ClinVar Miner

List of variants reported as pathogenic by Ambry Genetics

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ClinVar version:
Total variants: 23638
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
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_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 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_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_001077415.3(CRELD1):c.959del (p.Gln320fs) rs759473511 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_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 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_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter) rs370032864 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NC_000011.10:g.5227159G>A rs33944208 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508 0.00019
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_145207.3(AFG2A):c.1714+1G>A rs149688478 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001134665.3(TRMT10A):c.79G>T (p.Glu27Ter) rs142895837 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) rs201866563 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_012079.6(DGAT1):c.751+2T>C rs148665132 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter) rs182144885 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_024027.5(COLEC11):c.240_241insGA (p.Arg81fs) rs762031914 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001029871.4(RSPO4):c.79+1G>A rs775644973 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) rs201278558 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter) rs80359112 0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 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_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 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_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_000051.4(ATM):c.1236-2A>T rs80159221 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 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_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_006907.4(PYCR1):c.633+1G>C rs144346996 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter) rs763001827 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 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_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 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_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) rs778127154 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) rs201079485 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.372C>T (p.Val124=) rs371891909 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) rs368928190 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter) rs376496894 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173689.7(CRB2):c.2445_2446del (p.Cys816fs) rs777114603 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000314.8(PTEN):c.802-2A>T rs587782455 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_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter) rs750528020 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) rs781767219 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006303.4(AIMP2):c.575-2A>G rs869312968 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_205850.3(SLC24A5):c.989G>A (p.Trp330Ter) rs753732275 0.00005
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 0.00004
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307 0.00004
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 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_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter) rs374133543 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003114.5(SPAG1):c.742C>T (p.Arg248Ter) rs770777381 0.00004
NM_003906.5(MCM3AP):c.3476_3477del (p.Gln1159fs) rs756431692 0.00004
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) rs898898802 0.00004
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter) rs778555849 0.00004
NM_005993.5(TBCD):c.988C>T (p.Gln330Ter) rs1419604407 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006767.4(LZTR1):c.1768C>T (p.Gln590Ter) rs754685052 0.00004
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) rs756363870 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) rs747166010 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020680.4(SCYL1):c.399del (p.Asn133fs) rs755131489 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_022336.4(EDAR):c.77C>T (p.Ala26Val) rs550414401 0.00004
NM_022436.3(ABCG5):c.-76C>T rs560839317 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198525.3(KIF7):c.328+2T>G rs781752990 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.468dup (p.Lys157Ter) rs1555280955 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs) rs1555288494 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_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_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001032386.2(SUOX):c.649C>T (p.Arg217Trp) rs765738385 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001080510.5(METTL23):c.150dup (p.Asp51fs) rs1462161137 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter) rs121908855 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val) rs587777189 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001364171.2(ODAD1):c.597+1G>A rs606231238 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_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_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_002768.5(CHMP1A):c.108C>T (p.Ala36=) rs764358419 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003865.3(HESX1):c.479G>A (p.Arg160His) rs766234350 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) rs786203485 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_016103.4(SAR1B):c.83_84del (p.Leu28fs) rs755928019 0.00003
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 0.00003
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile) rs777607274 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775 0.00003
NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter) rs775981553 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_182758.4(WDR72):c.708G>A (p.Trp236Ter) rs1266819147 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_201631.4(TGM5):c.104G>A (p.Arg35Gln) rs749224503 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) rs752397242 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000146.4(FTL):c.310G>T (p.Glu104Ter) rs199869995 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 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_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000211.5(ITGB2):c.2070del (p.Asp690fs) rs1466186480 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) rs761886494 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 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.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 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_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.49del (p.Ala17fs) rs587781704 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) rs756855585 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001160372.4(TRAPPC9):c.289G>T (p.Glu97Ter) rs781469639 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter) rs142209254 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00002
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs) rs764867655 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) rs1025967277 0.00002
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter) rs373774032 0.00002
NM_002354.3(EPCAM):c.491+1G>A rs606231203 0.00002
NM_002439.5(MSH3):c.2695_2696del (p.Met899fs) rs1204002507 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 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_002894.3(RBBP8):c.1072del (p.His358fs) rs754390284 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003793.4(CTSF):c.649C>T (p.Arg217Ter) rs375562245 0.00002
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter) rs782498857 0.00002
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048 0.00002
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter) rs142573911 0.00002
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005262.3(GFER):c.566C>G (p.Ser189Ter) rs373135339 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311 0.00002
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452 0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter) rs761837416 0.00002
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter) rs876658770 0.00002
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) rs766315644 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His) rs769001939 0.00002
NM_006907.4(PYCR1):c.138+1G>A rs755867227 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_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) rs200832994 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter) rs765112107 0.00002
NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter) rs1216182303 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_018668.5(VPS33B):c.832dup (p.Leu278fs) rs1442840881 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_019023.5(PRMT7):c.1402C>T (p.Gln468Ter) rs779212218 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln) rs536081800 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter) rs765086319 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024417.5(FDXR):c.925C>T (p.Arg309Ter) rs760030067 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 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_025137.4(SPG11):c.258-2A>C rs781665076 0.00002
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter) rs764186203 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 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_032578.4(MYPN):c.1129C>T (p.Arg377Ter) rs781261060 0.00002
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter) rs1242562412 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter) rs111033590 0.00002
NC_000011.10:g.47332110del rs727503166 0.00001
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NC_000011.10:g.47350083dup rs397516049 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.1333C>T (p.Gln445Ter) rs876658802 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.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter) rs786202195 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4909+1G>A rs756987454 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6629del (p.Gln2210fs) rs2085556498 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6839del (p.Gln2280fs) rs1407907917 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter) rs776002066 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter) rs80358464 0.00001
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter) rs397507279 0.00001
NM_000059.4(BRCA2):c.2092del (p.Leu698fs) rs80359322 0.00001
NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter) rs587782095 0.00001
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs) rs1555282969 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter) rs748508287 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter) rs41293477 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs) rs397507668 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer) rs730881620 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs) rs80359452 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter) rs886038108 0.00001
NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs) rs786204209 0.00001
NM_000059.4(BRCA2):c.4877dup (p.Asn1626fs) rs80359470 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs) rs120074205 0.00001
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter) rs80358754 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter) rs397507819 0.00001
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter) rs80358843 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs) rs754611265 0.00001
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter) rs200078639 0.00001
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter) rs80358943 0.00001
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter) rs80358998 0.00001
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter) rs397508009 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9118-2A>G rs81002862 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter) rs397508047 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) rs1347651454 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) rs863224010 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_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe) rs760307559 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 0.00001
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter) rs1396658541 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 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_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) rs35414700 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403 0.00001
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) rs786202724 0.00001
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 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.306G>A (p.Glu102=) rs63751665 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_000251.3(MSH2):c.2459-6_2459-2del rs1114167841 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) rs397515890 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) rs121913633 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter) rs1433428588 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) rs786204928 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.523G>A (p.Val175Met) rs1860417734 0.00001
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421 0.00001
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys) rs878855292 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter) rs142066904 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000455.5(STK11):c.290+1G>A rs1131690950 0.00001
NM_000460.4(THPO):c.112C>T (p.Arg38Cys) rs760797899 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.1315-2A>G rs1316885634 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.1512dup (p.Gly505fs) rs1553619249 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 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.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 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.234dup (p.Trp79fs) rs1189377616 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 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.3808del (p.Asp1270fs) rs763843966 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.581del (p.Ser194fs) rs2077276693 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000529.2(MC2R):c.437G>A (p.Arg146His) rs758709668 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter) rs63751228 0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577 0.00001
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter) rs878854037 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.2007-2A>C rs587782336 0.00001
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 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.251-2A>T rs587779340 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.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.593dup (p.Arg199fs) rs267608148 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.804-2A>G rs1307026290 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs) rs1248355799 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.376-1G>A rs868137297 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 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.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.716A>C (p.Asn239Thr) rs1057519999 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.783-1G>A rs1555525367 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.840A>T (p.Arg280Ser) rs1567547687 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) rs112431538 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs) rs749012928 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) rs943339467 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2850G>C (p.Gln950His) rs863224446 0.00001
NM_001042492.3(NF1):c.3709-2A>G rs1597722374 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr) rs201163858 0.00001
NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) rs1306473047 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter) rs376561094 0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) rs1064796630 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter) rs1338038953 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) rs587781338 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001080.3(ALDH5A1):c.610-2A>G rs1301821497 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter) rs768327292 0.00001
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) rs267606701 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs) rs755531536 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001198800.3(ASCC1):c.311-2A>G rs1281256224 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) rs387907152 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter) rs72657393 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter) rs757013900 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.8076_8077del (p.Met2693fs) rs1785931346 0.00001
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) rs138607170 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365276.2(TNXB):c.7826-1G>C rs200357005 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5114+1G>C rs878854457 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs) rs772620276 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_001370259.2(MEN1):c.491C>A (p.Ala164Asp) rs1565648547 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001371533.1(FUT8):c.715C>T (p.Arg239Ter) rs1460811017 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371904.1(APOA5):c.111del (p.Asp37fs) rs1365337213 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter) rs1392057115 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter) rs1158349299 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001759.4(CCND2):c.814G>T (p.Glu272Ter) rs1477693311 0.00001
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter) rs747896279 0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) rs773153659 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312 0.00001
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650 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.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.237+2T>C rs1480047980 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.2845C>T (p.Gln949Ter) rs758546167 0.00001
NM_002439.5(MSH3):c.697G>T (p.Glu233Ter) rs756632960 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.802C>T (p.Arg268Ter) rs201033017 0.00001
NM_002439.5(MSH3):c.978_984del (p.Phe326fs) rs1475633334 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter) rs1394437421 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 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_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002857.4(PEX19):c.775C>T (p.Gln259Ter) rs869312934 0.00001
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter) rs773906955 0.00001
NM_002878.4(RAD51D):c.461_462insTT (p.Gln155fs) rs1555568296 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_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003001.5(SDHC):c.215G>A (p.Arg72His) rs778582853 0.00001
NM_003001.5(SDHC):c.374T>G (p.Met125Arg) rs1060501387 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003002.4(SDHD):c.1A>T (p.Met1Leu) rs104894307 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile) rs1403165900 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) rs1216811263 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003721.4(RFXANK):c.438+1G>T rs869312922 0.00001
NM_003977.4(AIP):c.218G>A (p.Trp73Ter) rs1591042753 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 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_004168.4(SDHA):c.1340A>G (p.His447Arg) rs779151375 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256 0.00001
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) rs771328239 0.00001
NM_004268.5(MED17):c.1444C>T (p.Gln482Ter) rs372622191 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 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_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004656.4(BAP1):c.438-2A>G rs587776879 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005094.4(SLC27A4):c.556+2T>G rs368207076 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter) rs767889331 0.00001
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter) rs372411821 0.00001
NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter) rs1376550081 0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540 0.00001
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter) rs1440482403 0.00001
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter) rs951805101 0.00001
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter) rs1215450873 0.00001
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) rs137852759 0.00001
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) rs1783602877 0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593 0.00001
NM_005732.4(RAD50):c.1201A>T (p.Arg401Ter) rs199867309 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.1271_1272del (p.Leu424fs) rs769047012 0.00001
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) rs587781904 0.00001
NM_005732.4(RAD50):c.2033_2034dup (p.Cys680fs) rs771855778 0.00001
NM_005732.4(RAD50):c.2083C>T (p.Gln695Ter) rs777678214 0.00001
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs) rs587781454 0.00001
NM_005732.4(RAD50):c.2263C>T (p.Gln755Ter) rs765975825 0.00001
NM_005732.4(RAD50):c.2517dup (p.Asp840fs) rs786201897 0.00001
NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter) rs1554099320 0.00001
NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter) rs397507177 0.00001
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs) rs768522804 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_005732.4(RAD50):c.3372T>G (p.Tyr1124Ter) rs775069541 0.00001
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter) rs745797941 0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter) rs750586158 0.00001
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) rs377429225 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006059.4(LAMC3):c.1033_1039del (p.Ser345fs) rs1426926688 0.00001
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter) rs1048918488 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006767.4(LZTR1):c.1149+3A>G rs542715642 0.00001
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter) rs762434811 0.00001
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.1568del (p.Val523fs) rs990151749 0.00001
NM_006767.4(LZTR1):c.1587C>A (p.Tyr529Ter) rs371015800 0.00001
NM_006767.4(LZTR1):c.1729C>T (p.Gln577Ter) rs1390034681 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.401-2A>G rs1222197005 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.482del (p.Gln161fs) rs1924462309 0.00001
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter) rs1458120855 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.529del (p.Ala177fs) rs558510095 0.00001
NM_006767.4(LZTR1):c.594-2A>G rs1374011263 0.00001
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter) rs749437251 0.00001
NM_006767.4(LZTR1):c.671dup (p.Ser227fs) rs1351226319 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.955C>T (p.Gln319Ter) rs1924617179 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 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.1260-8A>G rs863224747 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_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 0.00001
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter) rs80357472 0.00001
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) rs80356880 0.00001
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1623dup (p.Asn542fs) rs397508891 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter) rs80357118 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.302-2del rs273899695 0.00001
NM_007294.4(BRCA1):c.3286del (p.Gln1096fs) rs80357533 0.00001
NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter) rs886040126 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.3675C>A (p.Cys1225Ter) rs879254023 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_007294.4(BRCA1):c.5278-1G>C rs80358099 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5467+2T>C rs80358009 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 0.00001
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs) rs80357707 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012233.3(RAB3GAP1):c.1471C>T (p.Arg491Ter) rs752667359 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) rs899735028 0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) rs747975445 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) rs749509661 0.00001
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter) rs760575768 0.00001
NM_014908.4(DOLK):c.374del (p.Ser125fs) rs1156844272 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015047.3(EMC1):c.797T>G (p.Leu266Ter) rs1277233450 0.00001
NM_015338.6(ASXL1):c.1117C>T (p.Gln373Ter) rs1427299519 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) rs1060501109 0.00001
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter) rs199675507 0.00001
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter) rs772562722 0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) rs763944898 0.00001
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) rs387907087 0.00001
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter) rs1555066709 0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) rs993687029 0.00001
NM_017613.4(DONSON):c.1324C>T (p.Arg442Ter) rs753648048 0.00001
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter) rs1348892740 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017849.4(TMEM127):c.3G>A (p.Met1Ile) rs121908814 0.00001
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_017934.7(PHIP):c.4447C>T (p.Arg1483Ter) rs1304822359 0.00001
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter) rs747233125 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018238.4(AGK):c.390+1G>T rs777096695 0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter) rs1199705359 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738 0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter) rs1553249737 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_020191.4(MRPS22):c.489T>G (p.Tyr163Ter) rs201337850 0.00001
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter) rs199728745 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_020632.3(ATP6V0A4):c.777del (p.Met259fs) rs1445362077 0.00001
NM_020745.4(AARS2):c.2146-2A>G rs368934219 0.00001
NM_020778.5(ALPK3):c.2131C>T (p.Gln711Ter) rs1295297874 0.00001
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter) rs370072439 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_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022552.5(DNMT3A):c.2536C>T (p.Gln846Ter) rs781139634 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_022773.4(LMF1):c.697C>T (p.Arg233Ter) rs199953320 0.00001
NM_023036.6(DNAI2):c.1697del (p.Asp566fs) rs764971993 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter) rs1953327287 0.00001
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter) rs763344375 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_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.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.2888del (p.Ser963fs) rs587776420 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 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_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter) rs753920931 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) rs377416834 0.00001
NM_030653.4(DDX11):c.223C>T (p.Arg75Ter) rs781413815 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 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.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_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) rs890871342 0.00001
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter) rs757674263 0.00001
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter) rs376152742 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter) rs1060502588 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_133443.4(GPT2):c.70C>T (p.Gln24Ter) rs1437184398 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683 0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.490del (p.Arg164fs) rs1414696397 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter) rs1233811324 0.00001
NM_152743.4(BRAT1):c.803+1G>C rs869312931 0.00001
NM_153006.3(NAGS):c.1025del (p.Arg342fs) rs730880266 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter) rs267604210 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_177438.3(DICER1):c.2062C>T (p.Arg688Ter) rs886037684 0.00001
NM_177438.3(DICER1):c.4517G>A (p.Trp1506Ter) rs886037716 0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) rs756173225 0.00001
NC_000011.10:g.47333203dup rs730880672
NC_000011.10:g.47333236del rs727503172
NC_000011.10:g.47333332dup rs397516007
NC_000011.10:g.47333668delinsTT rs730880666
NC_000011.10:g.47335898_47335908del rs730880657
NC_000011.10:g.47337436_47337437delinsAGA rs397515975
NC_000011.10:g.47339379del rs397515947
NC_000011.10:g.47339718_47339719delinsC rs727503192
NC_000011.10:g.47347065C>T rs864622197
NC_000011.10:g.47347670del rs727503212
NC_000011.10:g.5225256_5225875delinsTCTACTT rs1847513733
NC_000019.10:g.11089413C>T rs879254374
NC_000022.11:g.20988013del rs774779041
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000018.4(ACADVL):c.1244C>T (p.Ala415Val)
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000019.4(ACAT1):c.757G>A (p.Asp253Asn) rs869312946
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs) rs1555152440
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) rs2139074041
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) rs1226848374
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+1G>T
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.3(ACVRL1):c.1083C>A (p.Tyr361Ter)
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs) rs863223418
NM_000020.3(ACVRL1):c.1125C>A (p.Tyr375Ter)
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) rs1940834530
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) rs2139064475
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) rs1940836783
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) rs121909289
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.3(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) rs1940906429
NM_000020.3(ACVRL1):c.1271C>T (p.Pro424Leu)
NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs)
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) rs1940731395
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) rs2139064592
NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs)
NM_000020.3(ACVRL1):c.1329T>A (p.Cys443Ter)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs)
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) rs1940908396
NM_000020.3(ACVRL1):c.1365_1366delinsC (p.Ala456fs)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs)
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) rs1427299751
NM_000020.3(ACVRL1):c.193del (p.Glu65fs) rs2139065161
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) rs56080682
NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs)
NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter)
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) rs1592222308
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
NM_000020.3(ACVRL1):c.361del (p.Ala120_Leu121insTer)
NM_000020.3(ACVRL1):c.375del (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.400del (p.Ala134fs)
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.423G>A (p.Trp141Ter)
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.433del (p.Arg145fs)
NM_000020.3(ACVRL1):c.474del (p.Glu159fs)
NM_000020.3(ACVRL1):c.501del (p.Glu168fs)
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.625+1G>T rs1940767034
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.639T>A (p.Tyr213Ter)
NM_000020.3(ACVRL1):c.643G>T (p.Glu215Ter)
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.3(ACVRL1):c.65del (p.Asp22fs)
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) rs2139070482
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.71_93del (p.Val24fs)
NM_000020.3(ACVRL1):c.726del (p.Thr243fs)
NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter)
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
NM_000020.3(ACVRL1):c.766del (p.Ile256fs)
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) rs2139072772
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.3(ACVRL1):c.858_859insA (p.Asp287fs)
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) rs1057256890
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) rs1940805354
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.900del (p.Arg301fs)
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) rs1565594238
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.926G>A (p.Gly309Asp)
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.3(ACVRL1):c.971_972insGCGACAAG (p.Ala325fs)
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.988_994dup (p.Lys332fs)
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000033.4(ABCD1):c.1073C>G (p.Ser358Ter)
NM_000033.4(ABCD1):c.1171_1178del (p.Leu391fs)
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.583C>T (p.Gln195Ter)
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter) rs761063847
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
NM_000038.5(APC):c.1412dupG rs1580564136
NM_000038.5(APC):c.730_731delAG rs387906228
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.104del (p.Thr35fs) rs1114167593
NM_000038.6(APC):c.1051G>T (p.Gly351Ter)
NM_000038.6(APC):c.1078_1079del (p.Leu360fs)
NM_000038.6(APC):c.1095del (p.Asp366fs)
NM_000038.6(APC):c.1100_1101del (p.Ser367fs) rs387906237
NM_000038.6(APC):c.1101del (p.Val368fs) rs587782744
NM_000038.6(APC):c.1102_1103del (p.Val368fs) rs1554080016
NM_000038.6(APC):c.1109del (p.Leu370fs) rs2149781278
NM_000038.6(APC):c.1124del (p.Gly375fs) rs876658538
NM_000038.6(APC):c.1141del (p.Ala381fs) rs1554080036
NM_000038.6(APC):c.1178C>G (p.Ser393Ter) rs1114167545
NM_000038.6(APC):c.1180C>T (p.Gln394Ter) rs770507436
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) rs387906238
NM_000038.6(APC):c.1219del (p.Leu407fs) rs1114167558
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.1239dup (p.Arg414fs) rs879254088
NM_000038.6(APC):c.1246_1249del (p.Tyr416fs) rs1554080089
NM_000038.6(APC):c.1248C>A (p.Tyr416Ter)
NM_000038.6(APC):c.1251T>A (p.Cys417Ter) rs1114167607
NM_000038.6(APC):c.1255del (p.Thr419fs) rs2149783277
NM_000038.6(APC):c.1256delinsTCA (p.Thr419fs)
NM_000038.6(APC):c.1262G>A (p.Trp421Ter) rs559510809
NM_000038.6(APC):c.1268G>A (p.Trp423Ter) rs1762865724
NM_000038.6(APC):c.1269G>A (p.Trp423Ter)
NM_000038.6(APC):c.126_127del (p.Asn43fs)
NM_000038.6(APC):c.1283_1293del (p.Glu428fs) rs1580531483
NM_000038.6(APC):c.1286del (p.Pro429fs) rs1580531584
NM_000038.6(APC):c.1297C>T (p.Gln433Ter) rs863225309
NM_000038.6(APC):c.1307del (p.Asn436fs) rs1554080162
NM_000038.6(APC):c.1312+1G>A rs863225310
NM_000038.6(APC):c.1312+2T>C rs1114167579
NM_000038.6(APC):c.1312+3A>C rs863225311
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1312+3A>T
NM_000038.6(APC):c.1312+5G>A rs886039507
NM_000038.6(APC):c.1312+5G>C rs886039507
NM_000038.6(APC):c.1341T>A (p.Cys447Ter) rs1561545947
NM_000038.6(APC):c.1346del (p.Ala449fs) rs1580542168
NM_000038.6(APC):c.1348_1352delinsT (p.Val450fs)
NM_000038.6(APC):c.1352_1358del (p.Val450_Cys451insTer)
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.1358del (p.Leu453fs) rs1554080702
NM_000038.6(APC):c.1368_1369del (p.Ser457fs)
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.1380del (p.Glu461fs)
NM_000038.6(APC):c.1409-1G>A rs863225313
NM_000038.6(APC):c.1409-1G>T rs863225313
NM_000038.6(APC):c.1409-2A>C rs1064794163
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.1409-2_1409del rs1554081631
NM_000038.6(APC):c.1417C>T (p.Gln473Ter) rs876658868
NM_000038.6(APC):c.1427del (p.Ala476fs)
NM_000038.6(APC):c.1431del (p.Glu477fs) rs1554081640
NM_000038.6(APC):c.1433del (p.Leu478fs) rs1240024893
NM_000038.6(APC):c.145A>T (p.Lys49Ter) rs1581160030
NM_000038.6(APC):c.1464_1467del (p.Thr489fs) rs1114167602
NM_000038.6(APC):c.1469_1470dup (p.Asp491fs) rs2149809361
NM_000038.6(APC):c.1474_1487del (p.His492fs)
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.1485dup (p.Thr496fs) rs1131691137
NM_000038.6(APC):c.1486dup (p.Thr496fs)
NM_000038.6(APC):c.148_149insTT (p.Gln50fs)
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1498dup (p.Tyr500fs)
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.1525_1527delinsGAGATGTAGCCTTTGAGATGTTGGC (p.Thr509delinsGluMetTer) rs1580565841
NM_000038.6(APC):c.1529_1530del (p.Phe510fs) rs1554081749
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1531G>T (p.Gly511Ter) rs876658811
NM_000038.6(APC):c.1548+1G>A rs1114167599
NM_000038.6(APC):c.1548+1G>C rs1114167599
NM_000038.6(APC):c.1548+1G>T rs1114167599
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1548G>A (p.Lys516=) rs879254090
NM_000038.6(APC):c.1548G>C (p.Lys516Asn) rs879254090
NM_000038.6(APC):c.1549-1_1599dup
NM_000038.6(APC):c.154C>T (p.Gln52Ter) rs786202584
NM_000038.6(APC):c.1564dup (p.Met522fs) rs1554081884
NM_000038.6(APC):c.156del (p.Gly53fs) rs1581160123
NM_000038.6(APC):c.1579A>T (p.Arg527Ter)
NM_000038.6(APC):c.1606G>T (p.Glu536Ter) rs138098808
NM_000038.6(APC):c.1612G>T (p.Glu538Ter)
NM_000038.6(APC):c.1613A>T (p.Glu538Val) rs1561555761
NM_000038.6(APC):c.1617delinsTGT (p.Leu540fs) rs1114167613
NM_000038.6(APC):c.1620dup (p.Gln541fs) rs1131691555
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1624C>T (p.Gln542Ter) rs1580569680
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1627-1G>A rs1580573847
NM_000038.6(APC):c.1627-2A>T
NM_000038.6(APC):c.1627-3C>G
NM_000038.6(APC):c.163_164insG (p.Ile55fs) rs1554069524
NM_000038.6(APC):c.164_165dup (p.Glu56fs)
NM_000038.6(APC):c.1653del (p.Leu551fs)
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.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1734del (p.Val579fs)
NM_000038.6(APC):c.1738A>T (p.Lys580Ter)
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1743+1G>C
NM_000038.6(APC):c.1744-1G>A
NM_000038.6(APC):c.1744-22C>G
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.1744-3T>G rs760166803
NM_000038.6(APC):c.1744-4C>G rs772745309
NM_000038.6(APC):c.1759del (p.Ser587fs) rs1554083100
NM_000038.6(APC):c.1775T>G (p.Leu592Ter) rs1764700195
NM_000038.6(APC):c.1779G>A (p.Trp593Ter) rs1554083132
NM_000038.6(APC):c.1781_1782del (p.Asn594fs)
NM_000038.6(APC):c.1787C>G (p.Ser596Ter) rs1554083134
NM_000038.6(APC):c.1814_1818delinsTAGATGG (p.Asp605fs)
NM_000038.6(APC):c.1835dup (p.Leu613fs)
NM_000038.6(APC):c.1861dup (p.Thr621fs) rs1580604238
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.1873C>T (p.Gln625Ter) rs876659517
NM_000038.6(APC):c.1875_1878del (p.Asn627fs) rs878853420
NM_000038.6(APC):c.1879_1882del (p.Asn627fs) rs1060503360
NM_000038.6(APC):c.1880dup (p.Asn627fs)
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.1903G>T (p.Gly635Ter) rs1554083205
NM_000038.6(APC):c.1909G>A (p.Gly637Arg) rs1554083227
NM_000038.6(APC):c.1946del (p.Asn649fs) rs1580605254
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
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+1_1958+2dup rs1561569606
NM_000038.6(APC):c.1958+2T>A
NM_000038.6(APC):c.1958+3A>G rs879254032
NM_000038.6(APC):c.1958+3A>T rs879254032
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.6(APC):c.1958G>C (p.Arg653Thr)
NM_000038.6(APC):c.1958G>T (p.Arg653Met) rs1060503318
NM_000038.6(APC):c.1959-1G>A rs863225321
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.1979del (p.Asn660fs) rs1580617162
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.1994T>G (p.Leu665Ter) rs1765084859
NM_000038.6(APC):c.1997T>G (p.Leu666Ter)
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.1999C>T (p.Gln667Ter) rs876660130
NM_000038.6(APC):c.199_203del (p.Asp67fs)
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) rs587782303
NM_000038.6(APC):c.2010del (p.Lys670fs)
NM_000038.6(APC):c.2016_2017del (p.His672fs) rs2149858813
NM_000038.6(APC):c.2031_2034del (p.Ser678fs) rs878853422
NM_000038.6(APC):c.2036dup (p.Asn679fs) rs1131691140
NM_000038.6(APC):c.203del (p.Leu68fs) rs1756331894
NM_000038.6(APC):c.2051T>A (p.Leu684Ter)
NM_000038.6(APC):c.2062_2063del (p.Ala689fs)
NM_000038.6(APC):c.2068A>T (p.Arg690Ter)
NM_000038.6(APC):c.2089_2093delinsAATGCTGGTCCCATAATG (p.Ala697fs)
NM_000038.6(APC):c.2093T>G (p.Leu698Ter) rs137854582
NM_000038.6(APC):c.2094_2095dup (p.Trp699fs)
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.2116dup (p.Met706fs)
NM_000038.6(APC):c.2122_2123insTTCATTCATGCTCA (p.Lys708fs)
NM_000038.6(APC):c.2129del (p.Leu710fs) rs1114167584
NM_000038.6(APC):c.2136_2139del (p.His712fs)
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) rs137854570
NM_000038.6(APC):c.2161G>T (p.Gly721Ter)
NM_000038.6(APC):c.2164_2165insTCAAGCAA (p.Ser722fs)
NM_000038.6(APC):c.2185_2336del (p.Leu729fs) rs1554083990
NM_000038.6(APC):c.2186del (p.Leu729fs) rs2149862736
NM_000038.6(APC):c.219del (p.Glu74fs) rs1756336297
NM_000038.6(APC):c.220+1G>A rs1554069570
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.221-1G>C rs863225327
NM_000038.6(APC):c.221-2A>G rs786201291
NM_000038.6(APC):c.2212A>T (p.Lys738Ter)
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.2287G>T (p.Glu763Ter) rs1580620163
NM_000038.6(APC):c.2291dup (p.Leu764fs) rs2149865532
NM_000038.6(APC):c.2299C>T (p.Gln767Ter) rs1561575998
NM_000038.6(APC):c.2303_2304insT (p.Ser770fs) rs1580620326
NM_000038.6(APC):c.2304del (p.Leu769fs)
NM_000038.6(APC):c.2306_2307delinsC (p.Leu769fs) rs1765151559
NM_000038.6(APC):c.2307_2308insAA (p.Ser770fs)
NM_000038.6(APC):c.2307dup (p.Ser770fs)
NM_000038.6(APC):c.2309C>G (p.Ser770Ter) rs1060503310
NM_000038.6(APC):c.230T>A (p.Leu77Ter) rs2149787552
NM_000038.6(APC):c.2311G>T (p.Glu771Ter)
NM_000038.6(APC):c.2336dup (p.Leu779fs) rs1554084079
NM_000038.6(APC):c.233_236del (p.Asp78fs) rs1064793020
NM_000038.6(APC):c.233_264dup (p.Ser89delinsIleAlaValIleSerLeuGluTer)
NM_000038.6(APC):c.2342_2343delinsT (p.Pro781fs)
NM_000038.6(APC):c.2365C>T (p.Gln789Ter) rs398123117
NM_000038.6(APC):c.2373_2374del (p.His791fs)
NM_000038.6(APC):c.2380dup (p.Ser794fs) rs1114167564
NM_000038.6(APC):c.2395del (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2397T>A (p.Tyr799Ter)
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2426del (p.Asn809fs) rs1114167573
NM_000038.6(APC):c.2434_2437del (p.Asp812fs) rs1131691136
NM_000038.6(APC):c.2448dup (p.Gly817fs)
NM_000038.6(APC):c.2468C>G (p.Ser823Ter)
NM_000038.6(APC):c.2477_2500delinsCA (p.Leu826fs)
NM_000038.6(APC):c.2483del (p.Thr828fs) rs886042600
NM_000038.6(APC):c.2486_2487del (p.Thr829fs)
NM_000038.6(APC):c.2496_2502del (p.Ser833fs) rs1114167576
NM_000038.6(APC):c.2507C>A (p.Ser836Ter) rs1580623270
NM_000038.6(APC):c.2507_2510del (p.Ser835_Ser836insTer)
NM_000038.6(APC):c.2510C>G (p.Ser837Ter) rs79512956
NM_000038.6(APC):c.2527_2530del (p.Ser843fs) rs879254091
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2555T>A (p.Leu852Ter) rs1405022793
NM_000038.6(APC):c.2563_2564del (p.Glu855fs) rs794727160
NM_000038.6(APC):c.2570del (p.Gly857fs) rs876658472
NM_000038.6(APC):c.2588dup (p.Tyr863Ter)
NM_000038.6(APC):c.258dup (p.Leu87fs) rs1114167546
NM_000038.6(APC):c.2590_2597del (p.His864fs) rs2149873128
NM_000038.6(APC):c.2612del (p.Gly871fs) rs1554084299
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2635C>T (p.Gln879Ter) rs1060503287
NM_000038.6(APC):c.2652dup (p.Ala885fs) rs1561578684
NM_000038.6(APC):c.2656C>T (p.Gln886Ter) rs755806668
NM_000038.6(APC):c.2667del (p.Val890fs) 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.2680_2686dup (p.Ala896fs) rs587781910
NM_000038.6(APC):c.2681_2683delinsGTATG (p.Val894fs) rs1580625739
NM_000038.6(APC):c.268A>T (p.Lys90Ter)
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.2761dup (p.Ala921fs)
NM_000038.6(APC):c.2777_2778dup (p.Ala927fs)
NM_000038.6(APC):c.277del (p.Leu93fs) rs1580328099
NM_000038.6(APC):c.2790_2791delinsGTGT (p.His931fs) rs1554084454
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs) rs1131691143
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.2807del (p.Asn936fs)
NM_000038.6(APC):c.2815_2816del (p.Lys939fs) rs1580627539
NM_000038.6(APC):c.2821G>T (p.Glu941Ter)
NM_000038.6(APC):c.2828C>G (p.Ser943Ter) rs1554084512
NM_000038.6(APC):c.2843del (p.Ser948fs)
NM_000038.6(APC):c.2861T>G (p.Leu954Ter)
NM_000038.6(APC):c.2863del (p.Glu955fs) rs1554084553
NM_000038.6(APC):c.2865dup (p.Tyr956fs)
NM_000038.6(APC):c.2868C>A (p.Tyr956Ter)
NM_000038.6(APC):c.2879C>A (p.Ser960Ter)
NM_000038.6(APC):c.2879_2883del (p.Ser959_Ser960insTer) rs876660496
NM_000038.6(APC):c.287dup (p.Tyr96Ter)
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.2893_2896del (p.Asn965fs) rs2149879574
NM_000038.6(APC):c.2905_2906insC (p.Ser969fs) rs1131691139
NM_000038.6(APC):c.290del (p.Gly97fs)
NM_000038.6(APC):c.2926A>T (p.Arg976Ter)
NM_000038.6(APC):c.2928_2929del (p.Gly977fs) rs2149880355
NM_000038.6(APC):c.2932C>T (p.Gln978Ter)
NM_000038.6(APC):c.2944del (p.Ser982fs)
NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs)
NM_000038.6(APC):c.2971G>T (p.Glu991Ter) rs786202995
NM_000038.6(APC):c.2976dup (p.Lys993Ter)
NM_000038.6(APC):c.2991_2996del (p.Tyr997_Gln999delinsTer) rs1114167562
NM_000038.6(APC):c.3000C>A (p.Tyr1000Ter) rs1580629755
NM_000038.6(APC):c.3002del (p.Pro1001fs) rs1114167586
NM_000038.6(APC):c.3019A>T (p.Lys1007Ter)
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.3058G>T (p.Glu1020Ter) rs1580630407
NM_000038.6(APC):c.3060_3062delinsTAATTGG (p.Glu1020fs) rs1580630481
NM_000038.6(APC):c.3060del (p.Glu1020fs) rs1580630436
NM_000038.6(APC):c.3067dup (p.Thr1023fs) rs876658724
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn) rs1114167617
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.308_309insCT (p.Ser104fs)
NM_000038.6(APC):c.308dup (p.Ser104fs)
NM_000038.6(APC):c.3103C>T (p.Gln1035Ter) rs2149884384
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs) rs1554084698
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.3133C>T (p.Gln1045Ter) rs2149885099
NM_000038.6(APC):c.3139del (p.Glu1047fs)
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.314del (p.Ser105fs)
NM_000038.6(APC):c.3162_3163del (p.Ile1055fs)
NM_000038.6(APC):c.3163del (p.His1054_Ile1055insTer)
NM_000038.6(APC):c.3164_3168del (p.Ile1055fs) rs1554084772
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.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.3187dup (p.Ser1063fs)
NM_000038.6(APC):c.3189_3192del (p.Glu1064fs) rs1580632210
NM_000038.6(APC):c.3197dup (p.Gln1067fs)
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter) rs137854571
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.3211C>T (p.Gln1071Ter) rs876659539
NM_000038.6(APC):c.3241_3242del (p.Ser1081fs) rs1060503327
NM_000038.6(APC):c.3258_3259del (p.Leu1087fs)
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.3283C>T (p.Gln1095Ter) rs2149888710
NM_000038.6(APC):c.3283del (p.Gln1095fs)
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) rs587783029
NM_000038.6(APC):c.3295_3296del (p.Val1099fs) rs1064794228
NM_000038.6(APC):c.3300dup (p.Pro1101fs) rs1114167609
NM_000038.6(APC):c.3304del (p.Tyr1102fs)
NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter) rs879254092
NM_000038.6(APC):c.3326del (p.Gly1109fs)
NM_000038.6(APC):c.332del (p.Ser111fs)
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.3347del (p.Gly1116fs) rs1114167554
NM_000038.6(APC):c.3366_3369del (p.Asn1122fs) rs1580634573
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.3386T>A (p.Leu1129Ter)
NM_000038.6(APC):c.3386del (p.Leu1129fs) rs1114167616
NM_000038.6(APC):c.3391C>T (p.Gln1131Ter) rs878853438
NM_000038.6(APC):c.3391_5366del (p.Gln1131fs)
NM_000038.6(APC):c.3404_3405del (p.Asp1134_Tyr1135insTer) rs864622086
NM_000038.6(APC):c.341del (p.Pro114fs) rs1064793021
NM_000038.6(APC):c.3421dup (p.Thr1141fs)
NM_000038.6(APC):c.3440dup (p.Tyr1147Ter)
NM_000038.6(APC):c.3441C>A (p.Tyr1147Ter)
NM_000038.6(APC):c.3448G>T (p.Glu1150Ter)
NM_000038.6(APC):c.3453del (p.Glu1151fs)
NM_000038.6(APC):c.3455del (p.Gln1152fs)
NM_000038.6(APC):c.3458_3459dup (p.Glu1154fs)
NM_000038.6(APC):c.3460G>T (p.Glu1154Ter)
NM_000038.6(APC):c.3463_3467del (p.Glu1155fs) rs1114167589
NM_000038.6(APC):c.3464_3468del (p.Glu1155fs)
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs) rs1554085029
NM_000038.6(APC):c.3468_3472del (p.Glu1157fs)
NM_000038.6(APC):c.3470dup (p.Arg1158fs) rs2149892641
NM_000038.6(APC):c.3471_3474del (p.Glu1157fs) rs786203020
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.3486_3487del (p.Tyr1162_Ser1163delinsTer) rs786202348
NM_000038.6(APC):c.3493A>T (p.Lys1165Ter)
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.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.3527del (p.Pro1176fs) rs1554085084
NM_000038.6(APC):c.3532_3535del (p.Asp1178fs)
NM_000038.6(APC):c.3566C>A (p.Ser1189Ter)
NM_000038.6(APC):c.3571C>T (p.Gln1191Ter) rs1114167547
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.3581C>A (p.Ser1194Ter) rs2149894857
NM_000038.6(APC):c.3586dup (p.Ser1196fs)
NM_000038.6(APC):c.3588_3598delinsT (p.Phe1197fs)
NM_000038.6(APC):c.3595_3596del (p.Lys1199fs) rs864622106
NM_000038.6(APC):c.3596dup (p.Ser1200fs) rs864622106
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3602C>G (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) rs1057518472
NM_000038.6(APC):c.3625G>T (p.Glu1209Ter)
NM_000038.6(APC):c.3631_3632del (p.Met1211fs) rs1554085190
NM_000038.6(APC):c.3642del (p.Ser1214fs) rs2149896180
NM_000038.6(APC):c.3646dup (p.Glu1216fs)
NM_000038.6(APC):c.3665C>A (p.Ser1222Ter) rs1114167614
NM_000038.6(APC):c.3665dup (p.Ser1223fs)
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.3698del (p.Pro1233fs)
NM_000038.6(APC):c.3717_3726del (p.Arg1239fs)
NM_000038.6(APC):c.3720_3726del (p.Gly1241fs)
NM_000038.6(APC):c.3724_3725insTCTACTTCTCAAAAGGCTCAAA (p.Gln1242fs)
NM_000038.6(APC):c.3730C>T (p.Gln1244Ter) rs79122263
NM_000038.6(APC):c.3734del (p.Lys1245fs) rs1114167595
NM_000038.6(APC):c.3734dup (p.Ala1246fs) rs1114167595
NM_000038.6(APC):c.3746dup (p.Cys1249fs)
NM_000038.6(APC):c.3749_3750del (p.Lys1250fs) rs1114167583
NM_000038.6(APC):c.3757del (p.Ser1253fs) rs1114167571
NM_000038.6(APC):c.3768dup (p.Glu1257fs)
NM_000038.6(APC):c.3769G>T (p.Glu1257Ter) rs1580639836
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter) rs147411334
NM_000038.6(APC):c.3805dup (p.Ile1269fs) rs1580640350
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>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3822T>A (p.Cys1274Ter)
NM_000038.6(APC):c.3827C>A (p.Ser1276Ter) rs1060503299
NM_000038.6(APC):c.3827C>G (p.Ser1276Ter) rs1060503299
NM_000038.6(APC):c.3856G>T (p.Glu1286Ter)
NM_000038.6(APC):c.3861dup (p.Gly1288fs) rs1580640910
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.3869_3870del (p.Asn1290fs)
NM_000038.6(APC):c.386A>T (p.Glu129Val) rs759662717
NM_000038.6(APC):c.3878_3890del (p.Thr1293fs)
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.3892del (p.Ser1298fs)
NM_000038.6(APC):c.3892dup (p.Ser1298fs) rs1580641218
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) rs121913462
NM_000038.6(APC):c.3920_3921del (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.3925G>T (p.Glu1309Ter) rs1321583762
NM_000038.6(APC):c.3925_3926del (p.Glu1309fs)
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.3981dup (p.Gln1328fs)
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.398_399del (p.Tyr133fs)
NM_000038.6(APC):c.3994dup (p.Thr1332fs) rs1114167544
NM_000038.6(APC):c.4006A>T (p.Arg1336Ter) rs1580642648
NM_000038.6(APC):c.4025dup (p.Leu1342fs) rs863225351
NM_000038.6(APC):c.4028_4029del (p.Ser1343fs) rs1580643056
NM_000038.6(APC):c.4031C>G (p.Ser1344Ter) rs1114167578
NM_000038.6(APC):c.4037C>A (p.Ser1346Ter)
NM_000038.6(APC):c.4037del (p.Glu1345_Ser1346insTer)
NM_000038.6(APC):c.4054_4063dup (p.Ser1355delinsCysTer) rs1561589459
NM_000038.6(APC):c.4054del (p.Val1352fs) rs1114167566
NM_000038.6(APC):c.4057G>T (p.Glu1353Ter) rs1114167568
NM_000038.6(APC):c.4057del (p.Glu1353fs)
NM_000038.6(APC):c.4059_4071del (p.Phe1354fs)
NM_000038.6(APC):c.4067C>G (p.Ser1356Ter) rs1554085480
NM_000038.6(APC):c.4067_4068del (p.Ser1356fs)
NM_000038.6(APC):c.4069G>T (p.Gly1357Ter)
NM_000038.6(APC):c.4090dup (p.Ser1364fs)
NM_000038.6(APC):c.4122del (p.Glu1374fs)
NM_000038.6(APC):c.4126dup (p.Tyr1376fs)
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs) rs1554085533
NM_000038.6(APC):c.4128T>A (p.Tyr1376Ter)
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter) rs121913329
NM_000038.6(APC):c.4135del (p.Glu1379fs)
NM_000038.6(APC):c.4137del (p.Thr1380fs)
NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs) rs1554085560
NM_000038.6(APC):c.4142del (p.Pro1381fs) rs1580644533
NM_000038.6(APC):c.415_416insC (p.Lys139fs)
NM_000038.6(APC):c.4167dup (p.Val1390fs) rs1131691146
NM_000038.6(APC):c.4179dup (p.Asp1394Ter) rs1580644987
NM_000038.6(APC):c.4203del (p.Ile1401fs)
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.422+2T>G rs879254169
NM_000038.6(APC):c.423-11A>G rs1580358224
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.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-3_456del rs1580358296
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.423-9A>G rs1554071494
NM_000038.6(APC):c.4240del (p.Met1413_Val1414insTer) rs1580645606
NM_000038.6(APC):c.4241dup (p.Ser1415fs) rs1554085654
NM_000038.6(APC):c.425C>A (p.Ser142Ter)
NM_000038.6(APC):c.4260del (p.Ser1421fs) rs1554085679
NM_000038.6(APC):c.4263del (p.Ser1421fs)
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4300del (p.Ser1434fs)
NM_000038.6(APC):c.4319del (p.Pro1440fs) rs1131691145
NM_000038.6(APC):c.4333dup (p.Thr1445fs) rs2149911981
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4364_4368del (p.Asn1455fs)
NM_000038.6(APC):c.4375dup (p.Thr1459fs)
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) rs387906234
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4448del (p.Pro1483fs)
NM_000038.6(APC):c.4463del (p.Leu1488fs) rs1114167577
NM_000038.6(APC):c.4463dup (p.Leu1488fs) rs1114167577
NM_000038.6(APC):c.4474del (p.Ala1492fs) rs1131691144
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.6(APC):c.4508del (p.Ser1503fs) rs1580649018
NM_000038.6(APC):c.450_453del (p.Glu151fs) rs863225355
NM_000038.6(APC):c.4512_4513del (p.Ser1505fs)
NM_000038.6(APC):c.4535del (p.Asp1512fs)
NM_000038.6(APC):c.453del (p.Glu152fs) rs863224820
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter) rs1114167596
NM_000038.6(APC):c.4555_4556del (p.Asp1519fs)
NM_000038.6(APC):c.4568del (p.Arg1523fs)
NM_000038.6(APC):c.457A>T (p.Lys153Ter) rs1561477861
NM_000038.6(APC):c.4604dup (p.Asn1535fs) rs1580650175
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.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.4652_4655del (p.Lys1551fs) rs863225358
NM_000038.6(APC):c.465del (p.Asp156fs) rs1554071529
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.4682del (p.Lys1561fs) rs1114167552
NM_000038.6(APC):c.4682dup (p.Asp1562fs) rs1114167552
NM_000038.6(APC):c.4700C>G (p.Ser1567Ter) rs1765745643
NM_000038.6(APC):c.4706_4707del (p.Asp1569fs) rs876660454
NM_000038.6(APC):c.471G>A (p.Trp157Ter) rs1060503328
NM_000038.6(APC):c.4726G>T (p.Glu1576Ter) rs1554086134
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe) rs587781935
NM_000038.6(APC):c.4737del (p.Ile1580fs)
NM_000038.6(APC):c.4737dup (p.Ile1580fs) rs1114167587
NM_000038.6(APC):c.4738_4741del (p.Ile1580fs)
NM_000038.6(APC):c.474T>G (p.Tyr158Ter)
NM_000038.6(APC):c.4759del (p.Ser1587fs)
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer) rs2149615315
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4770del (p.Ala1591fs) rs1554086182
NM_000038.6(APC):c.4777_4778del (p.Lys1593fs)
NM_000038.6(APC):c.4778_4779insT (p.Lys1593fs) rs1064795475
NM_000038.6(APC):c.4778del (p.Lys1593fs) rs1554086185
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) rs863224281
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.4802del (p.Leu1601fs)
NM_000038.6(APC):c.481C>T (p.Gln161Ter) rs876658325
NM_000038.6(APC):c.4824_4827delinsTAC (p.Lys1608fs) rs786202276
NM_000038.6(APC):c.4838del (p.Pro1613fs)
NM_000038.6(APC):c.4848del (p.Lys1616fs)
NM_000038.6(APC):c.484del (p.Leu162fs)
NM_000038.6(APC):c.4861C>T (p.Gln1621Ter)
NM_000038.6(APC):c.4871del (p.Leu1624fs)
NM_000038.6(APC):c.4875del (p.Gln1625fs) rs587779794
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.4885_4895dup (p.Thr1633fs)
NM_000038.6(APC):c.4890del (p.Ser1631fs) rs1114167606
NM_000038.6(APC):c.4891_4894del (p.Ser1631fs) rs1580653770
NM_000038.6(APC):c.4897delinsTG (p.Thr1633fs) rs1765800063
NM_000038.6(APC):c.4901del (p.Pro1634fs) rs1057518901
NM_000038.6(APC):c.4928del (p.Cys1643fs)
NM_000038.6(APC):c.4950_4951dup (p.Phe1651fs) rs1554086324
NM_000038.6(APC):c.4970dup (p.Ser1658fs) rs1554086340
NM_000038.6(APC):c.497_499delinsTT (p.Thr166fs) rs1114167588
NM_000038.6(APC):c.498_502del (p.Lys167fs)
NM_000038.6(APC):c.5021dup (p.Val1675fs)
NM_000038.6(APC):c.502del (p.Arg168fs) rs1554071602
NM_000038.6(APC):c.5031del (p.Ala1679fs)
NM_000038.6(APC):c.503del (p.Arg168fs) rs2149615791
NM_000038.6(APC):c.506_510del (p.Ile169fs) rs1554071607
NM_000038.6(APC):c.5083_5099del (p.Arg1695fs)
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.509_516del (p.Asp170fs) rs1580359502
NM_000038.6(APC):c.5122_5123del (p.Val1708fs)
NM_000038.6(APC):c.5132del (p.Pro1711fs)
NM_000038.6(APC):c.5141del (p.Asp1714fs)
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.5152_5155dup (p.Glu1719fs)
NM_000038.6(APC):c.5158del (p.Glu1720fs) rs876659652
NM_000038.6(APC):c.517_520del (p.Leu172_Pro173insTer)
NM_000038.6(APC):c.5228_5241del (p.Val1743fs) rs1580657643
NM_000038.6(APC):c.524_531+4del rs863225364
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.531+6T>C rs1561478536
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.541C>T (p.Gln181Ter) rs863225366
NM_000038.6(APC):c.543_546del (p.Thr182fs) rs1554072562
NM_000038.6(APC):c.5442_5443del (p.Asn1815fs)
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) rs730881273
NM_000038.6(APC):c.5520del (p.Phe1840fs) rs1114167555
NM_000038.6(APC):c.5525C>G (p.Ser1842Ter)
NM_000038.6(APC):c.5536dup (p.Tyr1846fs)
NM_000038.6(APC):c.556A>T (p.Arg186Ter) rs1580379633
NM_000038.6(APC):c.556del (p.Arg186fs)
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.568_569dup (p.Tyr191fs) rs876658176
NM_000038.6(APC):c.5717C>G (p.Ser1906Ter)
NM_000038.6(APC):c.5727_5728insT (p.Thr1910fs)
NM_000038.6(APC):c.5757del (p.Arg1920fs) rs786201134
NM_000038.6(APC):c.5764C>T (p.Gln1922Ter) rs1064793024
NM_000038.6(APC):c.5781del (p.Gln1928fs) rs1766043404
NM_000038.6(APC):c.5803C>T (p.Gln1935Ter)
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.5822dup (p.Asp1942fs) rs1114167549
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5829_5830del (p.Ala1945fs)
NM_000038.6(APC):c.5834_5838dup (p.Thr1947fs)
NM_000038.6(APC):c.583C>T (p.Gln195Ter) rs749479682
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.5917del (p.Ser1973fs) rs878853458
NM_000038.6(APC):c.5920del (p.Asp1974fs) rs1554087070
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.5944A>T (p.Lys1982Ter) rs876660665
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.5973del (p.Glu1991fs) rs876659015
NM_000038.6(APC):c.597del (p.Met200fs)
NM_000038.6(APC):c.5989_5992del (p.Gly1997fs)
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.6011_6012insTT (p.Ser2005fs) rs1561604514
NM_000038.6(APC):c.6053del (p.Pro2018fs) rs1131691142
NM_000038.6(APC):c.6059_6062del (p.Cys2020fs) rs876660174
NM_000038.6(APC):c.607C>T (p.Gln203Ter) rs141576417
NM_000038.6(APC):c.607del (p.Gln203fs) rs1758253391
NM_000038.6(APC):c.6126_6141del (p.Ile2043fs) rs786203024
NM_000038.6(APC):c.613_614del (p.Gly205fs)
NM_000038.6(APC):c.6155dup (p.Pro2053fs)
NM_000038.6(APC):c.6189_6190del (p.His2063fs) rs2149959261
NM_000038.6(APC):c.622C>T (p.Gln208Ter) rs137854583
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs) rs2149960139
NM_000038.6(APC):c.626dup (p.Asp209fs)
NM_000038.6(APC):c.6337_6340del (p.Ser2113fs)
NM_000038.6(APC):c.6344T>G (p.Leu2115Ter) rs876659022
NM_000038.6(APC):c.6355del (p.Ala2119fs)
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.6373_6376del (p.Ser2125fs) rs587782505
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.6390_6391del (p.Asp2131fs) rs1554087390
NM_000038.6(APC):c.6395C>G (p.Ser2132Ter) rs1580670427
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.645+1G>C
NM_000038.6(APC):c.645+1G>T rs863225370
NM_000038.6(APC):c.6451del (p.Thr2151fs)
NM_000038.6(APC):c.6451dup (p.Thr2151fs)
NM_000038.6(APC):c.646-1G>A rs78847145
NM_000038.6(APC):c.646-2A>C
NM_000038.6(APC):c.646-2A>G rs777848503
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000038.6(APC):c.6555_6559del (p.Ser2185fs) rs1580671859
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter) rs752654519
NM_000038.6(APC):c.6623_6627del (p.Glu2208fs) rs1580672887
NM_000038.6(APC):c.6628del (p.Ser2210fs)
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) rs768922431
NM_000038.6(APC):c.670del (p.Ile224fs)
NM_000038.6(APC):c.673G>T (p.Glu225Ter)
NM_000038.6(APC):c.6742A>T (p.Lys2248Ter) rs1580674179
NM_000038.6(APC):c.6764del (p.Thr2255fs) rs2149972605
NM_000038.6(APC):c.6778del (p.Ser2260fs)
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.6878del (p.Gly2293fs)
NM_000038.6(APC):c.688del (p.Arg230fs)
NM_000038.6(APC):c.6905C>G (p.Ser2302Ter) rs767372014
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
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.697_698del (p.Gln233fs)
NM_000038.6(APC):c.7016_7076del (p.Pro2339fs) rs1766353088
NM_000038.6(APC):c.706C>T (p.Gln236Ter) rs1554074786
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.714del (p.Ala239fs)
NM_000038.6(APC):c.7151T>G (p.Leu2384Ter)
NM_000038.6(APC):c.723dup (p.Ala242fs) rs1114167565
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.7295C>G (p.Ser2432Ter) rs1580680919
NM_000038.6(APC):c.730-494C>G rs2149709778
NM_000038.6(APC):c.734C>A (p.Ser245Ter) rs1554076133
NM_000038.6(APC):c.7395_7398del (p.Ser2466fs) rs1580682001
NM_000038.6(APC):c.739C>T (p.Gln247Ter) rs1580454483
NM_000038.6(APC):c.7432del (p.Gln2478fs) rs1580682528
NM_000038.6(APC):c.7438C>T (p.Gln2480Ter) rs1554088359
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs) rs1554088383
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs) rs1554088391
NM_000038.6(APC):c.7488_7489insA (p.Ser2497fs)
NM_000038.6(APC):c.7489dup (p.Ser2497fs) rs1409414498
NM_000038.6(APC):c.74_75del (p.Gln25fs) rs1554067124
NM_000038.6(APC):c.750_751dup (p.Glu251fs) rs1580454619
NM_000038.6(APC):c.7512G>A (p.Trp2504Ter) rs1554088413
NM_000038.6(APC):c.754del (p.Thr252fs)
NM_000038.6(APC):c.7582_7583del (p.Ile2528fs) rs1580684327
NM_000038.6(APC):c.761C>G (p.Ser254Ter) rs1060503334
NM_000038.6(APC):c.762dup (p.His255fs) rs1114167608
NM_000038.6(APC):c.763dup (p.His255fs)
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter) rs1580685528
NM_000038.6(APC):c.767dup (p.Asp256fs)
NM_000038.6(APC):c.7709C>A (p.Ser2570Ter)
NM_000038.6(APC):c.7709C>G (p.Ser2570Ter) rs1561617778
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_000038.6(APC):c.7744del (p.Glu2582fs) rs1554088632
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.790C>T (p.Gln264Ter)
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs) rs1766600757
NM_000038.6(APC):c.7931_7937del (p.Ile2644fs) rs886039639
NM_000038.6(APC):c.7932_7935del (p.Tyr2645fs) rs1554088762
NM_000038.6(APC):c.7933_7934insTA (p.Tyr2645fs)
NM_000038.6(APC):c.7939del (p.Met2647fs)
NM_000038.6(APC):c.802G>T (p.Glu268Ter) rs1326410920
NM_000038.6(APC):c.8047del (p.Ile2683fs) rs1114167604
NM_000038.6(APC):c.8140_8141del (p.Arg2714fs) rs1561620875
NM_000038.6(APC):c.8155G>T (p.Glu2719Ter)
NM_000038.6(APC):c.824_825delinsA (p.Gly275fs)
NM_000038.6(APC):c.825del (p.Asn276fs) rs1554076216
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.8513dup (p.Tyr2838Ter) rs869312786
NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter) rs876660375
NM_000038.6(APC):c.8514C>G (p.Tyr2838Ter) rs876660375
NM_000038.6(APC):c.875T>A (p.Leu292Ter) rs876660439
NM_000038.6(APC):c.878del (p.Ser293fs) rs1580511939
NM_000038.6(APC):c.881del (p.Ser294fs) rs1580511959
NM_000038.6(APC):c.891_894del (p.His298fs) rs1114167567
NM_000038.6(APC):c.893del (p.His298fs)
NM_000038.6(APC):c.896_897del (p.Ser299fs) rs397515735
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.926del (p.Gly309fs)
NM_000038.6(APC):c.931_933+2delinsCA
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000038.6(APC):c.933+2T>C rs1057517559
NM_000038.6(APC):c.933+829A>G rs1580516055
NM_000038.6(APC):c.934-303_1312+190inv
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000038.6(APC):c.93del (p.Asn32fs) rs1114167561
NM_000038.6(APC):c.948T>A (p.Tyr316Ter)
NM_000038.6(APC):c.950C>G (p.Ser317Ter)
NM_000038.6(APC):c.960_961del (p.Met321fs)
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000043.6(FAS):c.717_720dup (p.Thr241fs) rs1554852244
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000049.4(ASPA):c.211C>A (p.Arg71Ser)
NM_000049.4(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.6007dup rs1555113505
NM_000051.3(ATM):c.8269del rs1555135341
NM_000051.3:c.919_920insALU
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs) rs2135268548
NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1056_1057del (p.Ile352fs) rs1591511511
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.118_125del (p.Ile40fs)
NM_000051.4(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1224dup (p.Leu409fs)
NM_000051.4(ATM):c.1228_1229insCGCCT (p.Val410fs)
NM_000051.4(ATM):c.1231_1235dup (p.Trp412fs) rs1591518293
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-3_1236-2del rs587782572
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter) rs2135316531
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs) rs1591523010
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1329del (p.Gln445fs) rs587782844
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.1348del (p.Glu450fs) rs758004668
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1358dup (p.Tyr454fs) rs1555070805
NM_000051.4(ATM):c.135dup (p.His46fs) rs1591447147
NM_000051.4(ATM):c.1362T>G (p.Tyr454Ter)
NM_000051.4(ATM):c.1368dup (p.Arg457fs) rs1565382593
NM_000051.4(ATM):c.1381G>T (p.Glu461Ter)
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1394_1395del (p.Cys465fs) rs876659866
NM_000051.4(ATM):c.1401dup (p.Lys468fs)
NM_000051.4(ATM):c.1406_1428del (p.Arg469fs)
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs) rs2080105212
NM_000051.4(ATM):c.1424C>G (p.Ser475Ter) rs786203550
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.4(ATM):c.1439T>G (p.Leu480Ter)
NM_000051.4(ATM):c.1439_1448del (p.Leu480fs) rs876658651
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1464del (p.Trp488fs) rs1555070994
NM_000051.4(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.4(ATM):c.1476dup (p.Arg493fs) rs1565383194
NM_000051.4(ATM):c.1479del (p.Gly494fs)
NM_000051.4(ATM):c.1490del (p.Ser497fs)
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.14_21del (p.Leu5fs)
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1512del (p.Phe505fs) rs1555071103
NM_000051.4(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.4(ATM):c.1537del (p.Gln513fs) rs1591524613
NM_000051.4(ATM):c.1547_1551del (p.Ser515_Leu516insTer)
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1595delinsTA (p.Cys532fs)
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1608-2A>G rs2135338498
NM_000051.4(ATM):c.1619_1620delinsAA (p.Cys540Ter)
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer) rs2080164484
NM_000051.4(ATM):c.1643_1656del (p.Thr548fs) rs1591527327
NM_000051.4(ATM):c.1644del (p.Ser549fs) rs1591527355
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1662_1667delinsTT (p.Thr554_Val555insTer)
NM_000051.4(ATM):c.1672G>T (p.Gly558Ter)
NM_000051.4(ATM):c.1681C>T (p.Gln561Ter)
NM_000051.4(ATM):c.1689del (p.Met563fs)
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1702del (p.Arg568fs)
NM_000051.4(ATM):c.171G>A (p.Trp57Ter)
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter) rs2135342200
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs) rs1131691151
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1768G>T (p.Glu590Ter) rs876659283
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
NM_000051.4(ATM):c.1811del (p.Pro604fs)
NM_000051.4(ATM):c.1838_1839del (p.Val613fs) rs1591530854
NM_000051.4(ATM):c.1838dup (p.Ser614fs) rs1555072492
NM_000051.4(ATM):c.1847dup (p.Met617fs) rs1591530991
NM_000051.4(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1899-2A>C
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
NM_000051.4(ATM):c.1906del (p.His636fs)
NM_000051.4(ATM):c.1909C>T (p.Gln637Ter)
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1937C>G (p.Ser646Ter) rs1591534005
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1948G>T (p.Glu650Ter)
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.4(ATM):c.1976del (p.Lys659fs)
NM_000051.4(ATM):c.1978dup (p.Met660fs) rs1555073243
NM_000051.4(ATM):c.1992dup (p.Ile665fs) rs2135368545
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2018dup (p.His674fs)
NM_000051.4(ATM):c.2025del (p.Gln675fs)
NM_000051.4(ATM):c.2029dup (p.Ser677fs)
NM_000051.4(ATM):c.202_203del (p.Ile68fs)
NM_000051.4(ATM):c.2050C>T (p.Gln684Ter) rs1060501691
NM_000051.4(ATM):c.205C>T (p.Gln69Ter) rs876660631
NM_000051.4(ATM):c.2064del (p.Glu688fs)
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter) rs1591534936
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
NM_000051.4(ATM):c.2129del (p.Thr710fs) rs786203807
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2139_2140del (p.Glu713fs)
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2166delinsTTT (p.Leu722fs)
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2191del (p.Tyr731fs)
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.4(ATM):c.2198_2199insC (p.Val734fs)
NM_000051.4(ATM):c.2200del (p.Gly733_Val734insTer)
NM_000051.4(ATM):c.2223T>A (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)
NM_000051.4(ATM):c.2239del (p.Gln747fs)
NM_000051.4(ATM):c.2254_2255del (p.Leu752fs)
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.4(ATM):c.2289del (p.Phe763fs)
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.229dup (p.Ile77fs) rs1565346867
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs) rs2080577927
NM_000051.4(ATM):c.2316_2317del (p.Arg772fs)
NM_000051.4(ATM):c.2345dup (p.Cys783fs) rs1591546645
NM_000051.4(ATM):c.2371del (p.Thr791fs)
NM_000051.4(ATM):c.2376+1G>T rs730881347
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2428A>T (p.Lys810Ter)
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
NM_000051.4(ATM):c.242dup (p.Asn81fs) rs1591451795
NM_000051.4(ATM):c.2462del (p.Ser821fs) rs2080701610
NM_000051.4(ATM):c.2464_2466+2del rs2135422352
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2475dup (p.Ile826fs) rs1591587103
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.248_249delinsT (p.Ser83fs)
NM_000051.4(ATM):c.2494dup (p.Arg832fs) rs1131691165
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2508dup (p.Ser837fs) rs770396940
NM_000051.4(ATM):c.2510C>A (p.Ser837Ter)
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2534del (p.Asn845fs) rs1591587673
NM_000051.4(ATM):c.2539_2543del (p.Met847fs)
NM_000051.4(ATM):c.2545del (p.Val849fs)
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter) rs587782280
NM_000051.4(ATM):c.2548del (p.Glu850fs)
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs) rs2135507893
NM_000051.4(ATM):c.2572_2574delinsA (p.Phe858fs)
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs) rs1131691148
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.259C>T (p.Gln87Ter)
NM_000051.4(ATM):c.2613dup (p.Pro872fs) rs1591588646
NM_000051.4(ATM):c.2624del (p.Ser875fs) rs1555082344
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2669_2672del (p.Leu890fs)
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter) rs770610463
NM_000051.4(ATM):c.2693del (p.Phe897_Leu898insTer)
NM_000051.4(ATM):c.2715T>A (p.Cys905Ter)
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.4(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
NM_000051.4(ATM):c.2783T>G (p.Leu928Ter)
NM_000051.4(ATM):c.2785_2791del (p.Met929fs)
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.4(ATM):c.2832delinsTT (p.His945fs)
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2867del (p.Gly956fs) rs2135547839
NM_000051.4(ATM):c.2869G>T (p.Glu957Ter)
NM_000051.4(ATM):c.286G>T (p.Glu96Ter) rs1591452100
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2882T>A (p.Leu961Ter)
NM_000051.4(ATM):c.2882del (p.Leu961fs) rs587781805
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter) rs1555084723
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)
NM_000051.4(ATM):c.2965del (p.Thr989fs) rs786203539
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs) rs1555085172
NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter) rs1064794039
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs) rs1591604513
NM_000051.4(ATM):c.3034dup (p.Arg1012fs) rs2135554107
NM_000051.4(ATM):c.3038dup (p.Asp1013fs) rs1131691163
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3058dup (p.Thr1020fs)
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter) rs1591608334
NM_000051.4(ATM):c.3111del (p.Ser1037_Val1038insTer)
NM_000051.4(ATM):c.311del (p.Phe104fs) rs1555055309
NM_000051.4(ATM):c.3125del (p.Leu1042fs)
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.3169A>T (p.Lys1057Ter)
NM_000051.4(ATM):c.3171del (p.Lys1057fs)
NM_000051.4(ATM):c.3171dup (p.Trp1058fs) rs2135570105
NM_000051.4(ATM):c.318del (p.Lys106fs) rs1591452378
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.321T>A (p.Cys107Ter)
NM_000051.4(ATM):c.3226C>T (p.Gln1076Ter)
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs) rs761486324
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3247_3260del (p.His1083fs)
NM_000051.4(ATM):c.3249_3250insAA (p.Gln1084fs)
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.4(ATM):c.3263del (p.Leu1088fs)
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs) rs879254281
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3285-2308_3994-1478dup
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter) rs773964990
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.3296_3318del (p.Asp1099fs)
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.3318del (p.Arg1106fs)
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3335dup (p.Leu1113fs) rs876660031
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter) rs1049900772
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3348del (p.Gln1116fs)
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer) rs1064796055
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.4(ATM):c.3370del (p.Tyr1124fs)
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3387del (p.Gly1130fs) rs1591632498
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.4(ATM):c.338del (p.Pro113fs)
NM_000051.4(ATM):c.3391del (p.Gly1130_Met1131insTer)
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer) rs1591636185
NM_000051.4(ATM):c.3406del (p.His1136fs)
NM_000051.4(ATM):c.3419del (p.Asn1140fs) rs1555091141
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
NM_000051.4(ATM):c.3430_3431del (p.Leu1144fs) rs1555091158
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter) rs1565441511
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.4(ATM):c.3451A>T (p.Lys1151Ter) rs1555091196
NM_000051.4(ATM):c.3453dup (p.Ser1152fs) rs2135666539
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
NM_000051.4(ATM):c.3518del (p.Leu1173fs) rs1591636817
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs) rs768356403
NM_000051.4(ATM):c.3560del (p.Pro1187fs)
NM_000051.4(ATM):c.3569del (p.Val1190fs)
NM_000051.4(ATM):c.3577-9_3583del rs1555092219
NM_000051.4(ATM):c.3586A>T (p.Lys1196Ter)
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.4(ATM):c.3610del (p.Arg1204fs)
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs) rs876660783
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.4(ATM):c.3646del (p.Tyr1216fs)
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter) rs1591641318
NM_000051.4(ATM):c.3656del (p.Leu1219fs)
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter) rs2135689111
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter) rs2082301397
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.3681_3687del (p.Glu1228fs) rs1591641462
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter) rs2082303743
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs) rs1555092477
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs) rs2135690451
NM_000051.4(ATM):c.3704del (p.Pro1235fs) rs876658455
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3716T>G (p.Leu1239Ter)
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
NM_000051.4(ATM):c.3747-1G>T
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3755dup (p.Tyr1252Ter) rs1591645340
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs) rs2135704536
NM_000051.4(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.376_382del (p.Met125_Asp126insTer) rs1591474736
NM_000051.4(ATM):c.3780dup (p.Ile1261fs) rs786202694
NM_000051.4(ATM):c.3788del (p.Ser1263fs)
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3813del (p.Ile1271fs)
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.387dup (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3895del (p.Ala1299fs) rs786203501
NM_000051.4(ATM):c.3907_3925del (p.Thr1303fs)
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
NM_000051.4(ATM):c.392C>A (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3961dup (p.Met1321fs) rs1591646429
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3983del (p.Leu1328fs)
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter) rs2082389962
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994del (p.Ile1332fs)
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.4(ATM):c.4038del (p.Glu1346fs)
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4056_4065del (p.His1352fs) rs1555095955
NM_000051.4(ATM):c.4057G>T (p.Glu1353Ter)
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs) rs886039488
NM_000051.4(ATM):c.4093del (p.Leu1365fs) rs2135737651
NM_000051.4(ATM):c.4095_4096dup (p.Cys1366fs) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.411C>G (p.Tyr137Ter)
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
NM_000051.4(ATM):c.4176T>A (p.Tyr1392Ter)
NM_000051.4(ATM):c.4189dup (p.His1397fs) rs2082644891
NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs) rs1591660745
NM_000051.4(ATM):c.4225del (p.Ser1409fs) rs2082647388
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter) rs1591662598
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606
NM_000051.4(ATM):c.4267del (p.Cys1423fs)
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4303_4304insTT (p.Lys1435fs) rs2082673829
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs) rs2135762355
NM_000051.4(ATM):c.4335dup (p.Val1446fs) rs1555097571
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs) rs1565456465
NM_000051.4(ATM):c.4348del (p.Leu1449_Leu1450insTer)
NM_000051.4(ATM):c.4353dup (p.Asp1452fs)
NM_000051.4(ATM):c.4357del (p.Asp1452_Ile1453insTer)
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4359_4363del (p.Ile1453fs) rs587782863
NM_000051.4(ATM):c.4363del (p.Ser1455fs) rs1591663478
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro) rs749770110
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.440_441del (p.Lys147fs)
NM_000051.4(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.4(ATM):c.4425dup (p.Ile1476fs)
NM_000051.4(ATM):c.4427_4428del (p.Ile1476fs)
NM_000051.4(ATM):c.442dup (p.Asp148fs) rs1555059380
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs) rs1565460896
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4453_4456del (p.Asp1485fs)
NM_000051.4(ATM):c.4460C>G (p.Ser1487Ter) rs1591673803
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter) rs1555099892
NM_000051.4(ATM):c.452_453del (p.Ser151fs)
NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer) rs1555059421
NM_000051.4(ATM):c.4563_4565delinsCA (p.Gly1522fs)
NM_000051.4(ATM):c.4571_4572insAT (p.Ile1525fs)
NM_000051.4(ATM):c.4572dup (p.Ile1525fs)
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs) rs1591674707
NM_000051.4(ATM):c.4584dup (p.Tyr1529fs)
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter) rs1555100037
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.462del (p.Lys154fs)
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4660_4661insTTTTTATT (p.Asn1554fs)
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter) rs766438805
NM_000051.4(ATM):c.4669del (p.Ile1557fs) rs1591677254
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
NM_000051.4(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.4(ATM):c.4708del (p.Val1570fs)
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.4(ATM):c.4776+1G>A
NM_000051.4(ATM):c.4776+1G>C
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4796C>G (p.Ser1599Ter) rs1591684337
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs) rs1060501659
NM_000051.4(ATM):c.4801dup (p.Ser1601fs)
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4820del (p.Pro1607fs) rs2135834949
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4885dup (p.Val1629fs) rs1555101915
NM_000051.4(ATM):c.4893del (p.Ile1631_Met1632insTer)
NM_000051.4(ATM):c.4897A>T (p.Arg1633Ter)
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs) rs1591685276
NM_000051.4(ATM):c.490_496del (p.Trp164fs)
NM_000051.4(ATM):c.4923del (p.Asp1641fs)
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.4995del (p.Glu1666fs)
NM_000051.4(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.4(ATM):c.504del (p.Ser169fs)
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.5070del (p.His1690fs) rs2083325659
NM_000051.4(ATM):c.5093dup (p.Ala1699fs)
NM_000051.4(ATM):c.5098del (p.Lys1701fs) rs1555104689
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs) rs1555104693
NM_000051.4(ATM):c.510_511del (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter) rs1591702911
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.516_517delinsG (p.Phe172fs)
NM_000051.4(ATM):c.5177+1G>A rs1131691159
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5185del (p.Val1729fs) rs1555105610
NM_000051.4(ATM):c.5192C>A (p.Ser1731Ter)
NM_000051.4(ATM):c.5210_5212delinsGT (p.Leu1737fs) rs1591708568
NM_000051.4(ATM):c.5231dup (p.Thr1745fs)
NM_000051.4(ATM):c.525T>A (p.Tyr175Ter)
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter) rs1363186839
NM_000051.4(ATM):c.5265_5274del (p.Met1755fs)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
NM_000051.4(ATM):c.5302A>T (p.Arg1768Ter)
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5318dup (p.Phe1774fs) rs876660289
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.531dup (p.Pro178fs)
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5324T>A (p.Leu1775Ter)
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer) rs2083496327
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5340del (p.Phe1780fs)
NM_000051.4(ATM):c.5346dup (p.Glu1783fs) rs2135927478
NM_000051.4(ATM):c.5347G>T (p.Glu1783Ter)
NM_000051.4(ATM):c.5347_5351del (p.Glu1783fs)
NM_000051.4(ATM):c.5365del (p.Leu1789fs)
NM_000051.4(ATM):c.5382del (p.Trp1795fs)
NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs) rs1474055596
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5402dup (p.Asn1801fs) rs1555106438
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.540del (p.Asp181fs) rs1565369355
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5418_5437del (p.Lys1807fs)
NM_000051.4(ATM):c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT (p.Cys1811delinsLeuSerLysSerTer)
NM_000051.4(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs) rs1591712726
NM_000051.4(ATM):c.5450dup (p.Gly1818fs)
NM_000051.4(ATM):c.546dup (p.His183fs)
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter) rs1555106553
NM_000051.4(ATM):c.5475dup (p.Leu1826fs)
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5503del (p.Thr1835fs) rs1591717467
NM_000051.4(ATM):c.5505del (p.Asp1836fs)
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5524dup (p.Leu1842fs)
NM_000051.4(ATM):c.5538dup (p.His1847fs) rs2135943275
NM_000051.4(ATM):c.5545_5564del (p.Asp1848_Ile1849insTer)
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5554del (p.Gln1852fs)
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.557dup (p.Leu186fs) rs1591500005
NM_000051.4(ATM):c.5594_5595del (p.His1865fs) rs1555107450
NM_000051.4(ATM):c.5609dup (p.Thr1871fs) rs2083601046
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs) rs1064793031
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5633C>A (p.Ser1878Ter)
NM_000051.4(ATM):c.564del (p.Arg189fs) rs876658754
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5679_5691del (p.Glu1894fs)
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) rs1060501580
NM_000051.4(ATM):c.5690del (p.Phe1897fs) rs1591731851
NM_000051.4(ATM):c.5690dup (p.Arg1898fs)
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5707A>T (p.Lys1903Ter)
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter) rs2135976898
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs) rs1555109102
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.4(ATM):c.5761A>T (p.Arg1921Ter)
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5763-2A>C rs876659489
NM_000051.4(ATM):c.5765del (p.Pro1922fs) rs786202814
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.4(ATM):c.5773G>T (p.Gly1925Ter)
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter) rs1131691254
NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs) rs1555110295
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs) rs1591745745
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
NM_000051.4(ATM):c.583_598del (p.Thr195fs)
NM_000051.4(ATM):c.583del (p.Thr195fs) rs1591500220
NM_000051.4(ATM):c.5842dup (p.Cys1948fs)
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs) rs1060501657
NM_000051.4(ATM):c.5871T>G (p.Tyr1957Ter)
NM_000051.4(ATM):c.5875G>T (p.Glu1959Ter)
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs) rs587781727
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs) rs2084040947
NM_000051.4(ATM):c.5932del (p.Glu1978fs)
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter) rs1555111763
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter) rs1555111775
NM_000051.4(ATM):c.5951del (p.Thr1984fs)
NM_000051.4(ATM):c.5959dup (p.Ser1987fs) rs1555111808
NM_000051.4(ATM):c.5966T>A (p.Leu1989Ter)
NM_000051.4(ATM):c.5966_5979delinsCGAGTA (p.Leu1989fs)
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs) rs2136061889
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter) rs1565493693
NM_000051.4(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter) rs1591758899
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs) rs2084254630
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter) rs1555111910
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
NM_000051.4(ATM):c.6029del (p.Arg2010fs)
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6047_6071dup (p.Gly2024_Lys2025insTer)
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs) rs1591776808
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6105_6114del (p.Tyr2036fs)
NM_000051.4(ATM):c.6128dup (p.Lys2044fs) rs1591778765
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6147del (p.Thr2048_Tyr2049insTer)
NM_000051.4(ATM):c.6153_6159delinsTC (p.Glu2052fs)
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs) rs2084621452
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
NM_000051.4(ATM):c.6177dup (p.Arg2060fs) rs1591779373
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter) rs1555113845
NM_000051.4(ATM):c.6184dup (p.Ala2062fs) rs2136131958
NM_000051.4(ATM):c.6197_6198dup (p.Ala2067fs)
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6198+1G>T
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter) rs1591789046
NM_000051.4(ATM):c.6219_6229del (p.Cys2074fs)
NM_000051.4(ATM):c.621del (p.Lys208fs) rs2079706212
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter) rs2136164699
NM_000051.4(ATM):c.6267dup (p.Asp2090fs)
NM_000051.4(ATM):c.6270delinsTT (p.Trp2091fs) rs1555114702
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter) rs1060501712
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter) rs2136166539
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter) rs1064794143
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
NM_000051.4(ATM):c.6323dup (p.Trp2109fs) rs2136169465
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6335del (p.Cys2112fs)
NM_000051.4(ATM):c.6335dup (p.Cys2112fs)
NM_000051.4(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.4(ATM):c.635_636insG (p.Phe212fs)
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs) rs1555116381
NM_000051.4(ATM):c.6369_6372del (p.Tyr2124fs)
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
NM_000051.4(ATM):c.6372C>A (p.Tyr2124Ter)
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.4(ATM):c.6399dup (p.Ser2134fs) rs1555116451
NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs) rs1555116468
NM_000051.4(ATM):c.6403del (p.Ser2134_Leu2135insTer)
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6411_6414del (p.Asp2137fs)
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs) rs786202264
NM_000051.4(ATM):c.6436dup (p.Ser2146fs) rs786202323
NM_000051.4(ATM):c.6450dup (p.Arg2151fs) rs2136222670
NM_000051.4(ATM):c.6460G>T (p.Glu2154Ter)
NM_000051.4(ATM):c.6463del (p.Val2155fs)
NM_000051.4(ATM):c.6466del (p.Glu2156fs)
NM_000051.4(ATM):c.6478A>T (p.Lys2160Ter)
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.4(ATM):c.6510T>A (p.Tyr2170Ter)
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs) rs2085199149
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs) rs2085200653
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter) rs2085204408
NM_000051.4(ATM):c.6573-9G>A rs1591128179
NM_000051.4(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6589C>T (p.Gln2197Ter)
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6606T>A (p.Tyr2202Ter) rs1367617850
NM_000051.4(ATM):c.6619A>T (p.Lys2207Ter)
NM_000051.4(ATM):c.6621dup (p.His2208fs)
NM_000051.4(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.4(ATM):c.6638del (p.Lys2213fs)
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.6650_6651del (p.Asp2216_Phe2217insTer)
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs) rs864622326
NM_000051.4(ATM):c.6657del (p.Gln2220fs) rs876658603
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
NM_000051.4(ATM):c.6666_6669dup (p.Met2224fs)
NM_000051.4(ATM):c.6673dup (p.Ala2225fs) rs587781872
NM_000051.4(ATM):c.6677_6683del (p.Leu2226fs)
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs) rs1565518539
NM_000051.4(ATM):c.6691_6692insCTTTT (p.Leu2231fs)
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
NM_000051.4(ATM):c.6706G>T (p.Glu2236Ter) rs1591129305
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6725del (p.Ser2242fs) rs876658394
NM_000051.4(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.4(ATM):c.6733G>T (p.Glu2245Ter)
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
NM_000051.4(ATM):c.6735dup (p.Cys2246fs) rs2136315218
NM_000051.4(ATM):c.6748dup (p.Ile2250fs) rs1555119247
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs) rs863224461
NM_000051.4(ATM):c.6757_6758insT (p.Lys2253fs)
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs) rs1131691156
NM_000051.4(ATM):c.6779dup (p.Leu2261fs)
NM_000051.4(ATM):c.6796A>T (p.Lys2266Ter)
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs) rs1555119364
NM_000051.4(ATM):c.680C>G (p.Ser227Ter) rs762998620
NM_000051.4(ATM):c.6812del (p.Pro2271fs)
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs) rs1565520117
NM_000051.4(ATM):c.681dup (p.Gly228fs) rs1591503359
NM_000051.4(ATM):c.6827_6828inv (p.Phe2276Ter)
NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)
NM_000051.4(ATM):c.6829del (p.Gln2277fs) rs2136332132
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs) rs2135237416
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
NM_000051.4(ATM):c.6888del (p.Gln2297fs)
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6910del (p.Glu2304fs) rs1555119940
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter) rs2136338211
NM_000051.4(ATM):c.6947dup (p.Lys2317fs)
NM_000051.4(ATM):c.695_699del (p.Ile232fs)
NM_000051.4(ATM):c.6986_7004del (p.Ser2329fs)
NM_000051.4(ATM):c.6996del (p.Thr2333fs)
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7002del (p.Thr2333_Tyr2334insTer)
NM_000051.4(ATM):c.7004_7005del (p.Thr2335fs)
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer) rs1555120985
NM_000051.4(ATM):c.7011T>A (p.Cys2337Ter)
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7021del (p.Cys2341fs)
NM_000051.4(ATM):c.7026dup (p.Asn2343fs) rs1555121020
NM_000051.4(ATM):c.7028del (p.Asn2343fs) rs1591142530
NM_000051.4(ATM):c.7044_7047del (p.Thr2348_Cys2349insTer) rs1555121066
NM_000051.4(ATM):c.704del (p.Ala235fs) rs1591503565
NM_000051.4(ATM):c.706dup (p.Leu236fs) rs2135238203
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs) rs2136379109
NM_000051.4(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000051.4(ATM):c.708del (p.Thr237fs) rs1555067034
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7150del (p.Lys2383_Met2384insTer)
NM_000051.4(ATM):c.7154del (p.Lys2385fs)
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.4(ATM):c.7181_7189delinsGTAT (p.Ser2394fs)
NM_000051.4(ATM):c.7185_7186del (p.Thr2396fs)
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter) rs747372355
NM_000051.4(ATM):c.71del (p.Lys24fs)
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.7201del (p.Ile2401fs)
NM_000051.4(ATM):c.7212C>A (p.Tyr2404Ter)
NM_000051.4(ATM):c.7212C>G (p.Tyr2404Ter)
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter) rs863224462
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
NM_000051.4(ATM):c.7254_7255del (p.Arg2419fs)
NM_000051.4(ATM):c.7262_7263del (p.Lys2421fs) rs1131691157
NM_000051.4(ATM):c.7277del (p.Leu2426fs)
NM_000051.4(ATM):c.728dup (p.Leu243fs) rs2135238938
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs) rs1060501525
NM_000051.4(ATM):c.729_741del (p.Leu243fs) rs2079760023
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter)
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer) rs1591159614
NM_000051.4(ATM):c.7312del (p.Thr2438fs)
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs) rs1591159614
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7333del (p.Leu2445fs) rs1591159924
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
NM_000051.4(ATM):c.7359del (p.Ala2454fs)
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
NM_000051.4(ATM):c.7369G>T (p.Glu2457Ter) rs1591160295
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs) rs1591160284
NM_000051.4(ATM):c.7388T>A (p.Leu2463Ter)
NM_000051.4(ATM):c.7393A>T (p.Lys2465Ter)
NM_000051.4(ATM):c.7395_7411del (p.Lys2465fs)
NM_000051.4(ATM):c.7406dup (p.Asn2469fs) rs2086123262
NM_000051.4(ATM):c.7410T>A (p.Tyr2470Ter)
NM_000051.4(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.4(ATM):c.7450del (p.Val2484fs)
NM_000051.4(ATM):c.7452dup (p.Phe2485fs)
NM_000051.4(ATM):c.7455_7462del (p.Phe2485fs)
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs) rs786203734
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7491_7492dup (p.Ser2498fs)
NM_000051.4(ATM):c.7492del (p.Ser2498fs) rs1591161470
NM_000051.4(ATM):c.7507del (p.Gly2502_Met2503insTer)
NM_000051.4(ATM):c.7515+1G>A rs1591161831
NM_000051.4(ATM):c.7515+1del rs2136465036
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.7526dup (p.Met2509fs)
NM_000051.4(ATM):c.7533del (p.Pro2512fs)
NM_000051.4(ATM):c.753del (p.Cys252fs) rs2135239839
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7557del (p.Met2520fs)
NM_000051.4(ATM):c.7557dup (p.Met2520fs) rs2136493530
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
NM_000051.4(ATM):c.7564del (p.Gln2522fs)
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7599_7600dup (p.Gly2534fs) rs1555124089
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-1G>C
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7646C>A (p.Ser2549Ter)
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer) rs1555124503
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs) rs1565533778
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7675_7676del (p.Ile2559fs)
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7705del (p.Asp2569fs) rs2136522117
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter) rs1555124587
NM_000051.4(ATM):c.7744A>T (p.Arg2582Ter) rs750224234
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7792del (p.Arg2598fs) rs1591178022
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
NM_000051.4(ATM):c.7810del (p.Arg2604fs)
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs) rs1591178362
NM_000051.4(ATM):c.7834del (p.Arg2612fs) rs2086411154
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7864dup (p.Ala2622fs)
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7914_7915insT (p.Lys2639Ter) rs1591179199
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter) rs2136572656
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7929delA (p.Gly2644fs) rs1064795550
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7957_7960dup (p.Thr2654fs)
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
NM_000051.4(ATM):c.7976T>A (p.Leu2659Ter)
NM_000051.4(ATM):c.7978G>T (p.Glu2660Ter)
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8008A>T (p.Lys2670Ter)
NM_000051.4(ATM):c.8010+2T>G
NM_000051.4(ATM):c.8026G>T (p.Glu2676Ter)
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8034_8037del (p.Asn2679fs)
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.8043dup (p.Thr2682fs) rs2086672570
NM_000051.4(ATM):c.8045del (p.Thr2682fs)
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.4(ATM):c.8051dup (p.Ser2685fs) rs1591191449
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8076dup (p.Ala2693fs) rs1555127151
NM_000051.4(ATM):c.8081del (p.Gly2694fs)
NM_000051.4(ATM):c.8093T>G (p.Leu2698Ter)
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8101dup (p.Ile2701fs) rs2086682689
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8123del (p.Asp2708fs)
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu) rs587781990
NM_000051.4(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.4(ATM):c.8131G>T (p.Glu2711Ter)
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs) rs2136663735
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
NM_000051.4(ATM):c.8168_8169del (p.Arg2723fs)
NM_000051.4(ATM):c.816_829dup (p.Glu277delinsValIleLeuTer)
NM_000051.4(ATM):c.8178del (p.Val2727fs)
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8202dup (p.Cys2735fs) rs2136695766
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs) rs1555128432
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs) rs587782525
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter) rs866402530
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs) rs1162534390
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer) rs1565543844
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs) rs786202120
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8267del (p.Lys2756fs)
NM_000051.4(ATM):c.8269-1G>A
NM_000051.4(ATM):c.8272del (p.Val2758fs)
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter) rs751574257
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.828del (p.Glu277fs)
NM_000051.4(ATM):c.828dup (p.Glu277fs)
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs) rs786202318
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs) rs1555135596
NM_000051.4(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.4(ATM):c.8328_8329del (p.Ile2776fs) rs1555135633
NM_000051.4(ATM):c.8350G>T (p.Glu2784Ter)
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs) rs786202418
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
NM_000051.4(ATM):c.8378del (p.Pro2793fs)
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter) rs1555135852
NM_000051.4(ATM):c.8408del (p.Lys2803fs) rs1591249359
NM_000051.4(ATM):c.8418+5G>A rs1305740166
NM_000051.4(ATM):c.8418+5G>T rs1305740166
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter) rs1131691158
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer) rs991405942
NM_000051.4(ATM):c.8438_8439insCT (p.Glu2814fs) rs1591264194
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.4(ATM):c.8481del (p.Gln2828fs) rs2088278756
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter) rs1555138125
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.8514dup (p.Phe2839fs) rs876659010
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
NM_000051.4(ATM):c.8533del (p.Trp2845fs) rs1591265186
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs) rs2088299549
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter) rs779394254
NM_000051.4(ATM):c.855del (p.Gln286fs) rs1555067251
NM_000051.4(ATM):c.856C>T (p.Gln286Ter) rs2135242925
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter) rs56025670
NM_000051.4(ATM):c.8603_8604insA (p.Gly2869fs)
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter) rs2088551822
NM_000051.4(ATM):c.8624del (p.Asn2875fs)
NM_000051.4(ATM):c.8624dup (p.Asn2875fs) rs876660411
NM_000051.4(ATM):c.8626_8627dup (p.Leu2877fs)
NM_000051.4(ATM):c.8635_8636del (p.Ile2878_Asn2879insTer)
NM_000051.4(ATM):c.8636del (p.Asn2879fs)
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter) rs1057520672
NM_000051.4(ATM):c.8645C>G (p.Ser2882Ter)
NM_000051.4(ATM):c.8652dup (p.Leu2885fs) rs2088559453
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
NM_000051.4(ATM):c.8687_8688del (p.Gln2896fs)
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8714dup (p.Val2906fs)
NM_000051.4(ATM):c.871del (p.His291fs)
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8731dup (p.Thr2911fs) rs2137291352
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8734del (p.Arg2912fs)
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8787-1G>C rs1591313869
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.8794G>T (p.Glu2932Ter)
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter) rs876658959
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter) rs1591314316
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
NM_000051.4(ATM):c.8852dup (p.Leu2952fs)
NM_000051.4(ATM):c.8863del (p.Asp2955fs)
NM_000051.4(ATM):c.8865del (p.Pro2956fs) rs1591384391
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer) rs864622669
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter) rs864622669
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.889del (p.Thr297fs)
NM_000051.4(ATM):c.8904_8905del (p.Tyr2969fs)
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer) rs1555151395
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs) rs2137881586
NM_000051.4(ATM):c.8942del (p.His2981fs) rs786203489
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8987+1G>C rs786203631
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.8991_8992insG (p.Ile2998fs)
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs) rs876660022
NM_000051.4(ATM):c.9005del (p.Phe3002fs) rs876659235
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1G>C rs748840480
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.9014dup (p.Ala3006fs) rs1591386748
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.901G>C (p.Gly301Arg) rs1064797160
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9057del (p.Val3020fs)
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs) rs1591387609
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs) rs2137919004
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9091del (p.Gln3031fs) rs2091250180
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
NM_000051.4(ATM):c.919A>T (p.Lys307Ter)
NM_000051.4(ATM):c.920_921del (p.Lys307fs) rs2135264840
NM_000051.4(ATM):c.923G>A (p.Trp308Ter) rs1591510553
NM_000051.4(ATM):c.929del (p.Ser310fs) rs1591510597
NM_000051.4(ATM):c.95del (p.Arg32fs)
NM_000051.4(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_000051.4(ATM):c.970dup (p.Ser324fs)
NM_000051.4(ATM):c.972_979del (p.Ser324fs) rs2135266573
NM_000051.4(ATM):c.975del (p.His325fs) rs2079883068
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
NM_000051.4(ATM):c.988G>T (p.Gly330Ter)
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4(ATM):c.992dup (p.Tyr332fs)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.31dup (p.Thr11fs) rs1569549376
NM_000052.7(ATP7A):c.3799C>T (p.Gln1267Ter)
NM_000052.7(ATP7A):c.3946dup (p.Ile1316fs)
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000057.4(BLM):c.1025dup (p.Leu342fs)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter) rs1895931425
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1176dup (p.Leu393fs) rs1358266880
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) rs758132052
NM_000057.4(BLM):c.1255dup (p.Ser419fs)
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1469_1470dup (p.Phe492fs)
NM_000057.4(BLM):c.1469del (p.Pro490fs)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1500del (p.Phe500fs) rs1555419889
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1633del (p.Arg545fs)
NM_000057.4(BLM):c.1700G>A (p.Trp567Ter)
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.1820_1823del (p.Cys607fs)
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1921del (p.His641fs)
NM_000057.4(BLM):c.1925del (p.Glu642fs)
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2164del (p.Asp722fs)
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2243del (p.Asn748fs)
NM_000057.4(BLM):c.2261C>G (p.Ser754Ter)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.230dup (p.Pro78fs)
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) rs1896235438
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.262del (p.Asp88fs)
NM_000057.4(BLM):c.2630_2633del (p.Asp877fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.267_271delinsTTTT (p.Asn92fs)
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) rs1456964727
NM_000057.4(BLM):c.2781del (p.Asp928fs)
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2839dup (p.Ile947fs)
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.3055_3058del (p.His1019fs) rs1596259860
NM_000057.4(BLM):c.3090T>A (p.Cys1030Ter)
NM_000057.4(BLM):c.3101del (p.Thr1034fs)
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3177del (p.Asp1060fs)
NM_000057.4(BLM):c.3199_3202dup (p.Lys1068delinsMetTer)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3220_3221insG (p.Thr1074fs)
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3445_3450delinsT (p.Leu1149fs)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3480del (p.Leu1159_Tyr1160insTer)
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3538_3539del (p.Val1180fs)
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3679A>T (p.Lys1227Ter) rs1596268270
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3859G>T (p.Glu1287Ter)
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
NM_000057.4(BLM):c.397del (p.Asp133fs)
NM_000057.4(BLM):c.447del (p.Ser149fs)
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.557C>G (p.Ser186Ter)
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.604_607del (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.627_628del (p.Pro210fs)
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.722del (p.Gly241fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.826G>T (p.Glu276Ter)
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.910del (p.Ser304fs)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.4228_4229insA (p.Thr1410Asnfs) rs879255450
NM_000059.3(BRCA2):c.8755_8765del11
NM_000059.3:c.425+409_4780dup
NM_000059.3:c.6842-671_8332-1572dup
NM_000059.3:c.7435+350_8331+3158dup
NM_000059.4(BRCA2):c.1002del (p.His334fs)
NM_000059.4(BRCA2):c.1003G>T (p.Glu335Ter)
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1023_1024del (p.Cys341_Glu342delinsTer) rs1593891760
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1029dup (p.Ser344fs) rs80359260
NM_000059.4(BRCA2):c.1037del (p.Asn346fs) rs2137467012
NM_000059.4(BRCA2):c.1039C>T (p.Gln347Ter) rs794726967
NM_000059.4(BRCA2):c.1041dup (p.Val348fs)
NM_000059.4(BRCA2):c.1048G>T (p.Glu350Ter) rs2072403231
NM_000059.4(BRCA2):c.1051A>T (p.Lys351Ter) rs1003779807
NM_000059.4(BRCA2):c.1053del (p.Lys351fs) rs886040342
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1057_1058del (p.Ser353fs) rs2072403503
NM_000059.4(BRCA2):c.1064dup (p.Ser356fs)
NM_000059.4(BRCA2):c.1065dup (p.Ser356fs)
NM_000059.4(BRCA2):c.1097T>A (p.Leu366Ter) rs886040345
NM_000059.4(BRCA2):c.1097dup (p.Leu366fs) rs397507570
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter) rs80358407
NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter) rs80358407
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter) rs397507572
NM_000059.4(BRCA2):c.111del (p.Glu38fs)
NM_000059.4(BRCA2):c.1128del (p.Phe376fs) rs80359263
NM_000059.4(BRCA2):c.1133del (p.Ser378fs)
NM_000059.4(BRCA2):c.1134del (p.Ser378fs) rs876658589
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.1147del (p.Ile383fs) rs80359265
NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter) rs80358411
NM_000059.4(BRCA2):c.1156G>T (p.Glu386Ter) rs1593892076
NM_000059.4(BRCA2):c.1156_1159del (p.Glu386fs) rs2137468157
NM_000059.4(BRCA2):c.115del (p.Ala39fs) rs397507573
NM_000059.4(BRCA2):c.1163_1166dup (p.Ser390fs) rs786202789
NM_000059.4(BRCA2):c.1164_1168del (p.Pro389fs) rs886038061
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter) rs786201237
NM_000059.4(BRCA2):c.1185G>A (p.Trp395Ter) rs886039315
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.11del (p.Gly4fs)
NM_000059.4(BRCA2):c.1202C>G (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.1205del (p.Gly402fs) rs397507265
NM_000059.4(BRCA2):c.1206del (p.Gly402_Leu403insTer) rs2137468776
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter) rs781079248
NM_000059.4(BRCA2):c.1219del (p.Gln407fs) rs80359267
NM_000059.4(BRCA2):c.1228A>T (p.Lys410Ter) rs2137468996
NM_000059.4(BRCA2):c.1231_1234del (p.Ile411fs)
NM_000059.4(BRCA2):c.1237del (p.Leu413fs) rs886040351
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter) rs397507266
NM_000059.4(BRCA2):c.1257del (p.Cys419fs) rs80359272
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter) rs80358419
NM_000059.4(BRCA2):c.1265del (p.Asn422fs) rs80359273
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter) rs886040353
NM_000059.4(BRCA2):c.1278del (p.Asp427fs) rs80359274
NM_000059.4(BRCA2):c.1288del (p.Asp430fs) rs1593892424
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1303_1307del (p.Arg435fs) rs1593892461
NM_000059.4(BRCA2):c.1303dup (p.Arg435fs)
NM_000059.4(BRCA2):c.1307del (p.Lys436fs) rs80359278
NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs) rs786201950
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1310_1313dup (p.Asp438fs)
NM_000059.4(BRCA2):c.1314_1317del (p.Phe439fs)
NM_000059.4(BRCA2):c.1316_1317dup (p.Leu440fs) rs886040359
NM_000059.4(BRCA2):c.1324del (p.Ser442fs) rs2137470202
NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter) rs80358421
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.1354dup (p.Leu452fs)
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter) rs2072410817
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter) rs778142232
NM_000059.4(BRCA2):c.1368_1369del (p.Lys457fs) rs397507583
NM_000059.4(BRCA2):c.1370del (p.Lys457fs) rs1593892663
NM_000059.4(BRCA2):c.1376del (p.Pro458_Leu459insTer) rs886040363
NM_000059.4(BRCA2):c.1379del (p.Asn460fs) rs1064793945
NM_000059.4(BRCA2):c.137del (p.Pro46fs) rs2072285588
NM_000059.4(BRCA2):c.1384G>T (p.Glu462Ter) rs1593892698
NM_000059.4(BRCA2):c.1387del (p.Thr463fs) rs1566223465
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1389del (p.Val464fs) rs397507584
NM_000059.4(BRCA2):c.1393del (p.Val464_Val465insTer) rs1555281890
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1399_1402del (p.Lys467fs) rs398122726
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer) rs397507586
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter) rs80358428
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter) rs397507587
NM_000059.4(BRCA2):c.1428_1431del (p.His477fs) rs587781804
NM_000059.4(BRCA2):c.1433_1434del (p.Thr478fs) rs886040365
NM_000059.4(BRCA2):c.1433del (p.Thr478fs) rs1593892854
NM_000059.4(BRCA2):c.1444del (p.Ala483fs) rs397507588
NM_000059.4(BRCA2):c.1447dup (p.Ala483fs) rs587782611
NM_000059.4(BRCA2):c.1449_1451delinsTTAC (p.Val484fs) rs397507589
NM_000059.4(BRCA2):c.1449del (p.Ala483_Val484insTer)
NM_000059.4(BRCA2):c.144del (p.Glu49fs) rs864622434
NM_000059.4(BRCA2):c.1454delinsTGTATT (p.Lys485fs) rs2072413505
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.1457del (p.Gln486fs) rs1593892928
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1464dup (p.Ser489fs)
NM_000059.4(BRCA2):c.1465del (p.Ser489fs) rs1593892953
NM_000059.4(BRCA2):c.1472del (p.Thr491fs)
NM_000059.4(BRCA2):c.1483dup (p.Ala495fs)
NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter) rs1064794018
NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs) rs80359285
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1504A>T (p.Lys502Ter)
NM_000059.4(BRCA2):c.1511_1512del (p.Ser504fs) rs80359286
NM_000059.4(BRCA2):c.151del (p.Glu51fs) rs80359287
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.1532C>A (p.Ser511Ter) rs1555281935
NM_000059.4(BRCA2):c.1536_1537dup (p.Lys513fs) rs1555281937
NM_000059.4(BRCA2):c.1537A>T (p.Lys513Ter) rs1555281938
NM_000059.4(BRCA2):c.1539del (p.Glu514fs) rs1593893158
NM_000059.4(BRCA2):c.1547del (p.Phe516fs) rs80359289
NM_000059.4(BRCA2):c.1552del (p.Ala518fs) rs786201986
NM_000059.4(BRCA2):c.1553dup (p.Ser519fs)
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.1562C>G (p.Ser521Ter)
NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA (p.Lys53delinsAlaGlyArgGlyArgSerArgLeuTer) rs1593882502
NM_000059.4(BRCA2):c.1570_1571del (p.Met524fs) rs863224824
NM_000059.4(BRCA2):c.1570_1571dup (p.Met524fs) rs863224824
NM_000059.4(BRCA2):c.1571del (p.Met524fs)
NM_000059.4(BRCA2):c.1573del (p.Thr525fs)
NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer) rs1017181748
NM_000059.4(BRCA2):c.1593del (p.Glu532fs) rs397507272
NM_000059.4(BRCA2):c.1593dup (p.Glu532fs) rs397507272
NM_000059.4(BRCA2):c.1595_1599del (p.Glu532fs) rs80359291
NM_000059.4(BRCA2):c.1597del (p.Thr533fs) rs80359292
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs) rs80359293
NM_000059.4(BRCA2):c.1599del (p.Glu534fs)
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1608_1609del (p.Glu537fs) rs1593893353
NM_000059.4(BRCA2):c.160_161del (p.Asn54fs) rs878853297
NM_000059.4(BRCA2):c.1612dup (p.Ser538fs)
NM_000059.4(BRCA2):c.161del (p.Asn54fs) rs878853297
NM_000059.4(BRCA2):c.1631_1632del (p.Thr544fs) rs80359295
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter) rs398122729
NM_000059.4(BRCA2):c.1648dup (p.Glu550fs) rs80359296
NM_000059.4(BRCA2):c.1653del (p.Ser552fs)
NM_000059.4(BRCA2):c.1654del (p.Ser552fs) rs80359297
NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter) rs876659627
NM_000059.4(BRCA2):c.1658del (p.Leu553fs)
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.4(BRCA2):c.1670_1674del (p.Asn556_Leu557insTer)
NM_000059.4(BRCA2):c.1671_1674del (p.Asp559fs) rs886040379
NM_000059.4(BRCA2):c.1673_1677del (p.Ile558fs) rs1555282011
NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter) rs80358455
NM_000059.4(BRCA2):c.1688G>A (p.Trp563Ter) rs1566224110
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1689del (p.Trp563fs) rs876659278
NM_000059.4(BRCA2):c.1696del (p.Thr566fs) rs1555282016
NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs) rs886040384
NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter) rs201523522
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter) rs201523522
NM_000059.4(BRCA2):c.171_187del (p.Tyr57_Lys63delinsTer) rs1593882540
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer) rs1555280367
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter) rs1131692274
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter) rs397507604
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter) rs1555282048
NM_000059.4(BRCA2):c.1754del (p.Lys585fs) rs80359301
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter) rs397507275
NM_000059.4(BRCA2):c.1759_1763del (p.Lys586_Thr587insTer)
NM_000059.4(BRCA2):c.1762_1763del (p.Thr587_Asn588insTer)
NM_000059.4(BRCA2):c.1762_1766del (p.Asn588fs) rs80359303
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.4(BRCA2):c.1763del (p.Asn588fs)
NM_000059.4(BRCA2):c.1765_1766del (p.Lys589fs) rs397507606
NM_000059.4(BRCA2):c.1766dup (p.Phe590fs) rs2137474660
NM_000059.4(BRCA2):c.1767_1770del (p.Ile591fs) rs1593893796
NM_000059.4(BRCA2):c.176del (p.Pro59fs) rs876660504
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1785_1803del (p.His595fs) rs1555282073
NM_000059.4(BRCA2):c.1787_1799del (p.Asp596fs) rs886040388
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1797_1801del (p.Tyr600fs) rs397507607
NM_000059.4(BRCA2):c.1798_1802del (p.Tyr600fs) rs886040390
NM_000059.4(BRCA2):c.17_18del (p.Lys6fs) rs80359298
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter) rs80358464
NM_000059.4(BRCA2):c.1805del (p.Gly602fs) rs397507608
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1814del (p.Ile605fs)
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter) rs80358471
NM_000059.4(BRCA2):c.1825C>T (p.Gln609Ter) rs80358472
NM_000059.4(BRCA2):c.1830dup (p.Ser611fs)
NM_000059.4(BRCA2):c.1831del (p.Ser611fs) rs80359311
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter) rs80359312
NM_000059.4(BRCA2):c.1844del (p.Asn615fs) rs1555282120
NM_000059.4(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter) rs397507278
NM_000059.4(BRCA2):c.1850_1851delinsAG (p.Ser617Ter) rs2137475631
NM_000059.4(BRCA2):c.1854delinsAA (p.Gln619fs) rs276174815
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter) rs80358476
NM_000059.4(BRCA2):c.1855del (p.Gln619fs) rs397507611
NM_000059.4(BRCA2):c.1860del (p.Phe620fs)
NM_000059.4(BRCA2):c.1861G>T (p.Glu621Ter)
NM_000059.4(BRCA2):c.1864_1865delinsTA (p.Ala622Ter) rs2072424360
NM_000059.4(BRCA2):c.1874_1875del (p.Ala624_Phe625insTer)
NM_000059.4(BRCA2):c.1887_1888insG (p.Thr630fs)
NM_000059.4(BRCA2):c.1888_1889delinsT (p.Thr630fs)
NM_000059.4(BRCA2):c.1888_1889insGA (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1893del (p.Phe631fs)
NM_000059.4(BRCA2):c.1899del (p.Asn633fs)
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
NM_000059.4(BRCA2):c.1928del (p.Val643fs)
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.1943C>A (p.Ser648Ter)
NM_000059.4(BRCA2):c.1943del (p.Ser648fs) rs876658660
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter) rs398122735
NM_000059.4(BRCA2):c.1957_1966del (p.Glu653fs) rs1593895866
NM_000059.4(BRCA2):c.1960G>T (p.Glu654Ter) rs786203845
NM_000059.4(BRCA2):c.1964del (p.Pro655fs) rs1555282375
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter) rs397507617
NM_000059.4(BRCA2):c.1978dup (p.Thr660fs)
NM_000059.4(BRCA2):c.1992del (p.Thr665fs) rs1555282390
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter) rs879255439
NM_000059.4(BRCA2):c.2025_2026del (p.Cys676fs) rs886040402
NM_000059.4(BRCA2):c.2036del (p.Asn679fs) rs80359318
NM_000059.4(BRCA2):c.2037_2038del (p.Thr680fs)
NM_000059.4(BRCA2):c.2047_2050del (p.Ser683fs) rs80359319
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter) rs80358485
NM_000059.4(BRCA2):c.206del (p.Pro69fs)
NM_000059.4(BRCA2):c.2077del (p.Cys693fs)
NM_000059.4(BRCA2):c.2078_2079del (p.Lys692_Cys693insTer)
NM_000059.4(BRCA2):c.2091_2094dup (p.Gln699fs)
NM_000059.4(BRCA2):c.2091dup (p.Leu698fs) rs431825292
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs) rs886040403
NM_000059.4(BRCA2):c.2096_2098dup (p.Leu700Ter)
NM_000059.4(BRCA2):c.2097del (p.Gln699fs)
NM_000059.4(BRCA2):c.2099del (p.Leu700fs)
NM_000059.4(BRCA2):c.20_23del (p.Glu7fs) rs397507623
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs) rs80359324
NM_000059.4(BRCA2):c.2105_2106del (p.Ile702fs) rs1555282454
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter) rs886040405
NM_000059.4(BRCA2):c.2134_2137dup (p.Gln713fs) rs2137483571
NM_000059.4(BRCA2):c.2139_2145del (p.Gln713fs)
NM_000059.4(BRCA2):c.2146C>T (p.Gln716Ter)
NM_000059.4(BRCA2):c.2147del (p.Gln716fs) rs1555282477
NM_000059.4(BRCA2):c.2147dup (p.Cys717fs) rs886040408
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2151T>A (p.Cys717Ter) rs876660512
NM_000059.4(BRCA2):c.2167del (p.Ser723fs) rs2072451752
NM_000059.4(BRCA2):c.2168del (p.Ser723fs)
NM_000059.4(BRCA2):c.216_217del (p.Asn72fs)
NM_000059.4(BRCA2):c.2170A>T (p.Lys724Ter)
NM_000059.4(BRCA2):c.2173A>T (p.Lys725Ter) rs431825294
NM_000059.4(BRCA2):c.2175del (p.Val726fs) rs276174819
NM_000059.4(BRCA2):c.2175dup (p.Val726fs) rs276174819
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter) rs398122741
NM_000059.4(BRCA2):c.217del (p.Gln73fs) rs1555280383
NM_000059.4(BRCA2):c.2204dup (p.Ala736fs) rs2137484206
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs) rs80359325
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter) rs398122742
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2225_2252dup (p.Thr751_Asp752insThrPheLysSerGlyIleGlnTer)
NM_000059.4(BRCA2):c.2231C>A (p.Ser744Ter) rs397507282
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter) rs397507282
NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter) rs878853561
NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter) rs1555282563
NM_000059.4(BRCA2):c.2244_2245del (p.Tyr748_Ser749delinsTer) rs879255442
NM_000059.4(BRCA2):c.2247dup (p.Asp750Ter)
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs) rs886040416
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.4(BRCA2):c.2253dup (p.Asp752Ter)
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.4(BRCA2):c.2256del (p.Gln754fs) rs876659318
NM_000059.4(BRCA2):c.2261_2264del (p.Gln754fs) rs1555282584
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter) rs1057518637
NM_000059.4(BRCA2):c.2269A>T (p.Lys757Ter) rs886040419
NM_000059.4(BRCA2):c.2271_2272del (p.Leu759fs) rs886040420
NM_000059.4(BRCA2):c.2272del (p.Ser758fs) rs886040420
NM_000059.4(BRCA2):c.2273del (p.Ser758fs) rs1064795934
NM_000059.4(BRCA2):c.2275del (p.Leu759fs) rs2137484897
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.227C>A (p.Ser76Ter)
NM_000059.4(BRCA2):c.2287del (p.His763fs) rs80359327
NM_000059.4(BRCA2):c.22_23del (p.Arg8fs) rs397507623
NM_000059.4(BRCA2):c.2307del (p.Ile770fs)
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs) rs1593896605
NM_000059.4(BRCA2):c.2327del (p.Lys776fs) rs1593896647
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.2339_2352del (p.Ser780fs) rs2137485485
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.4(BRCA2):c.2385_2386insAA (p.Asp796fs)
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs) rs1555282658
NM_000059.4(BRCA2):c.2399_2412del (p.Gly800fs)
NM_000059.4(BRCA2):c.2399del (p.Gly800fs) rs886040423
NM_000059.4(BRCA2):c.2400_2401del (p.Asn801fs) rs1566226658
NM_000059.4(BRCA2):c.2400dup (p.Asn801Ter)
NM_000059.4(BRCA2):c.2407dup (p.Tyr803fs) rs2072457050
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.4(BRCA2):c.240dup (p.Phe81fs) rs2138705179
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter) rs397507285
NM_000059.4(BRCA2):c.2426del (p.Glu808_Leu809insTer) rs1593896907
NM_000059.4(BRCA2):c.2435del (p.Asn812fs) rs80359329
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs) rs80359329
NM_000059.4(BRCA2):c.2437_2438del (p.Ile813fs)
NM_000059.4(BRCA2):c.2442del (p.Met815fs) rs397507627
NM_000059.4(BRCA2):c.2465del (p.Cys822fs)
NM_000059.4(BRCA2):c.2466T>A (p.Cys822Ter) rs2072458139
NM_000059.4(BRCA2):c.2466del (p.Cys822fs)
NM_000059.4(BRCA2):c.246del (p.Glu83fs) rs397507630
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter) rs397507631
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer) rs886040427
NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter) rs886040428
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs) rs397507286
NM_000059.4(BRCA2):c.2485A>T (p.Lys829Ter)
NM_000059.4(BRCA2):c.2494G>T (p.Glu832Ter) rs786202875
NM_000059.4(BRCA2):c.2501del (p.Leu834fs) rs876659862
NM_000059.4(BRCA2):c.2507del (p.Pro836fs)
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter) rs80358515
NM_000059.4(BRCA2):c.2516dup (p.Tyr839Ter) rs1593897122
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter) rs80358516
NM_000059.4(BRCA2):c.2517C>G (p.Tyr839Ter)
NM_000059.4(BRCA2):c.2517_2521del (p.Tyr839_Arg841delinsTer)
NM_000059.4(BRCA2):c.2526dup (p.Ala843fs) rs80359332
NM_000059.4(BRCA2):c.2534dup (p.Ser846fs)
NM_000059.4(BRCA2):c.2543del (p.Lys848fs) rs2072459783
NM_000059.4(BRCA2):c.2546del (p.Val849fs)
NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter) rs886038075
NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs) rs2137487619
NM_000059.4(BRCA2):c.2557C>T (p.Gln853Ter)
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs) rs80359334
NM_000059.4(BRCA2):c.2570dup (p.Arg858fs) rs587782361
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2589del (p.Gln864fs) rs397507632
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter) rs1060502414
NM_000059.4(BRCA2):c.2592del (p.Glu865fs) rs2137487979
NM_000059.4(BRCA2):c.2596G>T (p.Glu866Ter) rs864622476
NM_000059.4(BRCA2):c.2603del (p.Thr868fs) rs276174824
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) rs80358523
NM_000059.4(BRCA2):c.2611dup (p.Ser871fs) rs876658929
NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter) rs397507634
NM_000059.4(BRCA2):c.2612del (p.Ile870_Ser871insTer)
NM_000059.4(BRCA2):c.2617dup (p.Ile873fs) rs398122748
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs) rs398122749
NM_000059.4(BRCA2):c.2622del (p.Val875fs)
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs) rs876658928
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer) rs276174826
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter) rs876658648
NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter) rs777421358
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.4(BRCA2):c.2655del (p.Asp885fs)
NM_000059.4(BRCA2):c.2657del (p.Asn886fs) rs886040439
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.4(BRCA2):c.2670del (p.Phe890fs) rs1555282786
NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter) rs1555282790
NM_000059.4(BRCA2):c.2677del (p.Gln893fs) rs879254111
NM_000059.4(BRCA2):c.2681dup (p.Ala895fs)
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter) rs979372317
NM_000059.4(BRCA2):c.2692_2696del (p.Glu897_Arg898insTer) rs398122752
NM_000059.4(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.4(BRCA2):c.2701del (p.Ala902fs) rs397507637
NM_000059.4(BRCA2):c.270_273dup (p.Gln92fs) rs1555280423
NM_000059.4(BRCA2):c.2715_2716insTA (p.Thr906Ter)
NM_000059.4(BRCA2):c.2716dup (p.Thr906fs) rs876659767
NM_000059.4(BRCA2):c.271_272del (p.Tyr91fs) rs886040441
NM_000059.4(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.2746_2750dup (p.Asn918fs) rs2137489438
NM_000059.4(BRCA2):c.2748del (p.Cys916fs) rs886040443
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.4(BRCA2):c.2760del (p.Ile921fs) rs80359346
NM_000059.4(BRCA2):c.276dup (p.Ser93fs) rs80359345
NM_000059.4(BRCA2):c.2772_2775del (p.Asn924fs)
NM_000059.4(BRCA2):c.2775del (p.Thr926fs) rs1064793063
NM_000059.4(BRCA2):c.2776_2780del (p.Thr926fs) rs1593897737
NM_000059.4(BRCA2):c.2786dup (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2790T>G (p.Tyr930Ter)
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs) rs80359348
NM_000059.4(BRCA2):c.2808del (p.Lys936fs) rs398122753
NM_000059.4(BRCA2):c.2808dup (p.Gln937fs)
NM_000059.4(BRCA2):c.2809C>T (p.Gln937Ter) rs2137490179
NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs) rs80359354
NM_000059.4(BRCA2):c.2813del (p.Ala938fs)
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter) rs80358532
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs) rs80359355
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) rs80359356
NM_000059.4(BRCA2):c.2835del (p.Asp946fs) rs80359356
NM_000059.4(BRCA2):c.2835dup (p.Asp946fs) rs80359356
NM_000059.4(BRCA2):c.2836_2837del (p.Asp946fs) rs80359357
NM_000059.4(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.4(BRCA2):c.2840del (p.Leu947fs) rs431825300
NM_000059.4(BRCA2):c.2842dup (p.Val948fs) rs80359359
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter) rs886040449
NM_000059.4(BRCA2):c.2860del (p.Glu954fs) rs1593897978
NM_000059.4(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs)
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs) rs2072467220
NM_000059.4(BRCA2):c.2886dup (p.Ile963fs) rs2072467270
NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer) rs2137490962
NM_000059.4(BRCA2):c.2899_2900del (p.Leu967fs) rs80359361
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter) rs397507646
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter) rs886038080
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.2930_2940del (p.Ser976_Leu977insTer) rs80359364
NM_000059.4(BRCA2):c.2945del (p.Ile982fs) rs886040453
NM_000059.4(BRCA2):c.2957del (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.2960dup (p.Asn987fs) rs886040455
NM_000059.4(BRCA2):c.2967del (p.Asp988_Tyr989insTer)
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs) rs886040456
NM_000059.4(BRCA2):c.2976del (p.Lys992fs) rs1060502391
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter) rs80358543
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter) rs80358544
NM_000059.4(BRCA2):c.2988_2997del (p.Leu997fs)
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter) rs397507649
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter) rs1555283001
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs) rs397507300
NM_000059.4(BRCA2):c.3015dup (p.Gly1006fs)
NM_000059.4(BRCA2):c.3018del (p.Gly1007fs) rs397507651
NM_000059.4(BRCA2):c.3021_3022dup (p.Ser1008fs)
NM_000059.4(BRCA2):c.3032del (p.Thr1011fs) rs1064794550
NM_000059.4(BRCA2):c.3038C>G (p.Ser1013Ter) rs2137492443
NM_000059.4(BRCA2):c.3051del (p.Lys1018fs) rs80359367
NM_000059.4(BRCA2):c.3064_3070del (p.His1022fs)
NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter) rs886040458
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer) rs80359369
NM_000059.4(BRCA2):c.3068del (p.Asn1023fs) rs80359368
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs) rs876658555
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer) rs587779362
NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter) rs80358552
NM_000059.4(BRCA2):c.3080_3082delinsCC (p.Ser1027fs)
NM_000059.4(BRCA2):c.308T>G (p.Leu103Ter)
NM_000059.4(BRCA2):c.308del (p.Lys102_Leu103insTer) rs1057517572
NM_000059.4(BRCA2):c.3096_3110delinsT (p.Lys1032fs) rs397507655
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer) rs1555283051
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter) rs1060502449
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3125dup (p.Leu1042fs) rs2137493447
NM_000059.4(BRCA2):c.3133_3134del (p.Cys1044_Val1045insTer) rs1593898654
NM_000059.4(BRCA2):c.313_314del (p.Leu105fs) rs2138705929
NM_000059.4(BRCA2):c.3141dup (p.Val1048fs)
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.4(BRCA2):c.3150del (p.Leu1051fs) rs1593898689
NM_000059.4(BRCA2):c.3157_3163del (p.Leu1053fs) rs1593898717
NM_000059.4(BRCA2):c.316+2T>C rs81002805
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.316+5G>C rs81002840
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs) rs80359371
NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs) rs1566227892
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter) rs79728106
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.317-182_632-460dup
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter) rs730881521
NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs) rs1555283079
NM_000059.4(BRCA2):c.3176_3177del (p.Leu1059fs) rs587782022
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter) rs876657678
NM_000059.4(BRCA2):c.3187_3188insG (p.Gln1063fs) rs1555283086
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter) rs864622609
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs) rs80359375
NM_000059.4(BRCA2):c.3195del (p.Asn1066fs) rs397507657
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3201del (p.Val1068fs) rs864622672
NM_000059.4(BRCA2):c.3202del (p.Val1068fs) rs397507658
NM_000059.4(BRCA2):c.3215T>G (p.Leu1072Ter) rs2072475273
NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter) rs886040464
NM_000059.4(BRCA2):c.3226_3230del (p.Val1076fs) rs397507659
NM_000059.4(BRCA2):c.3230_3231insAGTAG (p.Ser1079fs)
NM_000059.4(BRCA2):c.323del (p.Asn108fs)
NM_000059.4(BRCA2):c.3257_3258del (p.Ile1086fs) rs876658618
NM_000059.4(BRCA2):c.3262_3263del (p.Pro1088fs) rs80359379
NM_000059.4(BRCA2):c.3262_3263dup (p.Gln1089fs)
NM_000059.4(BRCA2):c.3263dup (p.Gln1089fs) rs80359379
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.4(BRCA2):c.3291del (p.Phe1097fs)
NM_000059.4(BRCA2):c.3295del (p.Ser1099fs) rs80359383
NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter) rs397507663
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter) rs397507663
NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs) rs1555280102
NM_000059.4(BRCA2):c.3301del (p.His1101fs)
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter) rs397507305
NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter) rs80358578
NM_000059.4(BRCA2):c.3323del (p.Lys1108fs) rs869320782
NM_000059.4(BRCA2):c.3326del (p.Ala1109fs) rs398122762
NM_000059.4(BRCA2):c.3335del (p.Thr1112fs) rs886040470
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.4(BRCA2):c.3337G>T (p.Glu1113Ter)
NM_000059.4(BRCA2):c.3342_3348del (p.Ser1115fs)
NM_000059.4(BRCA2):c.3351del (p.Ile1117_Leu1118insTer) rs587781436
NM_000059.4(BRCA2):c.3353_3355del (p.Leu1118_Glu1119delinsTer) rs786203329
NM_000059.4(BRCA2):c.3358G>T (p.Glu1120Ter) rs587778124
NM_000059.4(BRCA2):c.3358del (p.Glu1120fs) rs587782672
NM_000059.4(BRCA2):c.3362C>A (p.Ser1121Ter) rs80358579
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter) rs80358579
NM_000059.4(BRCA2):c.3364_3370delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG (p.Gly1122_Gln1124delinsIleLeuLeuIleAsnTer) rs1555283197
NM_000059.4(BRCA2):c.3365del (p.Gly1122fs) rs786202160
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter) rs1555283206
NM_000059.4(BRCA2):c.337A>T (p.Arg113Ter) rs1593885872
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.4(BRCA2):c.3385_3386del (p.Gln1129fs)
NM_000059.4(BRCA2):c.3386dup (p.Phe1130fs) rs431825305
NM_000059.4(BRCA2):c.3395_3396delinsG (p.Lys1132fs)
NM_000059.4(BRCA2):c.3396del (p.Lys1132fs) rs876658427
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter) rs876659258
NM_000059.4(BRCA2):c.3411dup (p.Gln1138fs) rs587781850
NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter) rs587782613
NM_000059.4(BRCA2):c.3415_3420delinsG (p.Lys1139fs) rs1593899478
NM_000059.4(BRCA2):c.342_343del (p.His114fs) rs878853568
NM_000059.4(BRCA2):c.342dup (p.Lys115Ter) rs1555280845
NM_000059.4(BRCA2):c.3430del (p.Val1144fs) rs1593899526
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.4(BRCA2):c.3442C>T (p.Gln1148Ter) rs397507667
NM_000059.4(BRCA2):c.3447del (p.Met1149fs)
NM_000059.4(BRCA2):c.3454_3455dup (p.Leu1152fs) rs80359385
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3458del (p.Lys1153fs) rs80359386
NM_000059.4(BRCA2):c.3458dup (p.Thr1154fs) rs80359386
NM_000059.4(BRCA2):c.345_346del (p.Leu117fs)
NM_000059.4(BRCA2):c.3469G>T (p.Glu1157Ter) rs80358595
NM_000059.4(BRCA2):c.3476del (p.Cys1159fs)
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs) rs878853569
NM_000059.4(BRCA2):c.3493del (p.His1165fs)
NM_000059.4(BRCA2):c.3496_3499del (p.His1165_Val1166insTer) rs2137497218
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs) rs80359387
NM_000059.4(BRCA2):c.3502dup (p.Met1168fs) rs886040479
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter) rs886040480
NM_000059.4(BRCA2):c.3530_3533del (p.Asp1177fs) rs886040481
NM_000059.4(BRCA2):c.3538A>T (p.Lys1180Ter)
NM_000059.4(BRCA2):c.3541C>T (p.Gln1181Ter)
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3554_3555del (p.Thr1185fs) rs80359389
NM_000059.4(BRCA2):c.3556delinsTTACAA (p.Val1186fs) rs1593899885
NM_000059.4(BRCA2):c.3568_3569insA (p.Arg1190fs)
NM_000059.4(BRCA2):c.3568del (p.Arg1190fs)
NM_000059.4(BRCA2):c.3570del (p.Lys1191fs) rs80359390
NM_000059.4(BRCA2):c.357del (p.Thr119_Val120insTer)
NM_000059.4(BRCA2):c.3584del (p.Leu1195fs)
NM_000059.4(BRCA2):c.3593del (p.Asn1198fs) rs397507677
NM_000059.4(BRCA2):c.3593dup (p.Asn1198fs) rs397507677
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3600del (p.Asp1199_Cys1200insTer)
NM_000059.4(BRCA2):c.3600dup (p.Asn1201Ter) rs2137498229
NM_000059.4(BRCA2):c.3610del (p.Ala1204fs)
NM_000059.4(BRCA2):c.3620_3621dup (p.Leu1208fs) rs1555283311
NM_000059.4(BRCA2):c.3623del (p.Tyr1207_Leu1208insTer)
NM_000059.4(BRCA2):c.3628_3629del (p.Thr1209_Asp1210insTer) rs1555283318
NM_000059.4(BRCA2):c.3635del (p.Asn1212fs) rs1555283322
NM_000059.4(BRCA2):c.3636_3639del (p.Asn1212fs) rs876659656
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs) rs397507678
NM_000059.4(BRCA2):c.3645_3647delinsTA (p.Phe1216fs) rs1064793064
NM_000059.4(BRCA2):c.3648dup (p.Arg1217Ter) rs2072485514
NM_000059.4(BRCA2):c.3678dup (p.Leu1227fs) rs1555283351
NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs) rs1555283355
NM_000059.4(BRCA2):c.3682_3685del (p.Asn1228fs) rs80359396
NM_000059.4(BRCA2):c.3683del (p.Asn1228fs)
NM_000059.4(BRCA2):c.3684delinsAA (p.Asn1228fs)
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs) rs869312759
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.4(BRCA2):c.36del (p.Phe12fs) rs80359393
NM_000059.4(BRCA2):c.36dup (p.Glu13Ter) rs80359393
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.370del (p.Met124fs) rs397507681
NM_000059.4(BRCA2):c.3710del (p.Ala1237fs) rs1555283371
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs) rs80359401
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs) rs80359401
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer) rs1555283373
NM_000059.4(BRCA2):c.3720_3723del (p.Phe1241fs) rs886038093
NM_000059.4(BRCA2):c.3723del (p.Phe1241fs) rs886040491
NM_000059.4(BRCA2):c.3737del (p.Asn1246fs) rs80359402
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs) rs1555283381
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3767del (p.His1256fs) rs1555283393
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs) rs886038094
NM_000059.4(BRCA2):c.3775_3782dup (p.Ser1262fs) rs2137499896
NM_000059.4(BRCA2):c.3778_3779del (p.Leu1260fs) rs397507686
NM_000059.4(BRCA2):c.3779_3780insCT (p.Leu1260fs)
NM_000059.4(BRCA2):c.3779del (p.Leu1260fs) rs397507686
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter) rs80358620
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter) rs80358622
NM_000059.4(BRCA2):c.3803_3804del (p.Ser1268fs)
NM_000059.4(BRCA2):c.3811del (p.Ser1271fs) rs1555283405
NM_000059.4(BRCA2):c.381dup (p.Asp128fs)
NM_000059.4(BRCA2):c.3824_3825del (p.Ile1275fs) rs1555283411
NM_000059.4(BRCA2):c.3826G>T (p.Glu1276Ter)
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs) rs397507689
NM_000059.4(BRCA2):c.3836dup (p.Asn1279fs) rs397507690
NM_000059.4(BRCA2):c.3845_3847delinsA (p.Thr1282fs) rs1593900672
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3847del (p.Thr1282_Val1283insTer) rs397507691
NM_000059.4(BRCA2):c.3849_3852del (p.Ser1284fs) rs397507692
NM_000059.4(BRCA2):c.3853del (p.Glu1285fs)
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) rs80359406
NM_000059.4(BRCA2):c.3860_3863del (p.Asn1287fs) rs80359410
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3861_3864del (p.Asn1287fs) rs886040500
NM_000059.4(BRCA2):c.3861_3865del (p.Asn1287fs) rs1555283431
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter) rs1555283442
NM_000059.4(BRCA2):c.3867_3869delinsTAATT (p.Lys1289fs)
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs) rs398122772
NM_000059.4(BRCA2):c.3879_3880del (p.Leu1294fs) rs1593900808
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter) rs80358632
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.4(BRCA2):c.3895G>T (p.Glu1299Ter)
NM_000059.4(BRCA2):c.3895del (p.Glu1299fs) rs2137501022
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.3926_3927del (p.Ile1309fs)
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs) rs1555283478
NM_000059.4(BRCA2):c.3934_3935del (p.Asn1312fs)
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.4(BRCA2):c.3939C>A (p.Tyr1313Ter) rs80358641
NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter) rs80358641
NM_000059.4(BRCA2):c.3946_3947del (p.Asn1316fs)
NM_000059.4(BRCA2):c.3957_3960del (p.Asn1319fs) rs80359417
NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter) rs80358644
NM_000059.4(BRCA2):c.3971del (p.Tyr1324fs) rs1593901067
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.3del (p.Met1fs) rs80359418
NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs) rs398122775
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.4(BRCA2):c.4005dup (p.Phe1336fs) rs397507701
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.4(BRCA2):c.4013_4014del (p.Gly1338fs) rs1555283504
NM_000059.4(BRCA2):c.4021del (p.Ser1341fs) rs397507702
NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)
NM_000059.4(BRCA2):c.4022del (p.Asp1340_Ser1341insTer)
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs) rs886040509
NM_000059.4(BRCA2):c.4034del (p.Asp1345fs)
NM_000059.4(BRCA2):c.4035_4038dup (p.Val1347fs)
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4037_4043del (p.Thr1346fs)
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer) rs1566218217
NM_000059.4(BRCA2):c.4048_4051del (p.His1350fs) rs80359423
NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter) rs886040510
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.4076del (p.Thr1359fs) rs80359424
NM_000059.4(BRCA2):c.407del (p.Asn136fs) rs80359425
NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter)
NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs) rs80359426
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter) rs80358658
NM_000059.4(BRCA2):c.4099A>T (p.Lys1367Ter)
NM_000059.4(BRCA2):c.4102delinsGTC (p.Leu1368fs)
NM_000059.4(BRCA2):c.4103del (p.Leu1368fs) rs1555283552
NM_000059.4(BRCA2):c.4105_4141del (p.Ser1369fs)
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs) rs730881606
NM_000059.4(BRCA2):c.4115_4116insC (p.Met1373fs)
NM_000059.4(BRCA2):c.4116del (p.Phe1372fs)
NM_000059.4(BRCA2):c.4126G>T (p.Gly1376Ter) rs2137503142
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.4130del (p.Asn1377fs) rs80359428
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs) rs80359430
NM_000059.4(BRCA2):c.4135del (p.Gln1379fs) rs1555283588
NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs) rs80359431
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs) rs276174842
NM_000059.4(BRCA2):c.413_417del (p.Ser137_Cys138insTer) rs876658850
NM_000059.4(BRCA2):c.4144G>T (p.Glu1382Ter)
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter) rs1555280869
NM_000059.4(BRCA2):c.4151dup (p.Leu1384fs)
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter) rs886038101
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs) rs276174843
NM_000059.4(BRCA2):c.4169del (p.Leu1390fs) rs80359433
NM_000059.4(BRCA2):c.4169dup (p.Leu1390fs) rs80359433
NM_000059.4(BRCA2):c.4177dup (p.Ala1393fs) rs876659977
NM_000059.4(BRCA2):c.4185_4221del (p.Gln1396fs)
NM_000059.4(BRCA2):c.4188del (p.Glu1397fs) rs80359434
NM_000059.4(BRCA2):c.4197T>A (p.Cys1399Ter) rs1339703491
NM_000059.4(BRCA2):c.41_63del (p.Ile14fs)
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter) rs41293489
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer) rs786203340
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer) rs398122777
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter) rs80358663
NM_000059.4(BRCA2):c.4223del (p.Gln1408fs) rs397507712
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4245del (p.Glu1415fs) rs767234936
NM_000059.4(BRCA2):c.4246C>T (p.Gln1416Ter) rs786202421
NM_000059.4(BRCA2):c.4253del (p.Ile1418fs)
NM_000059.4(BRCA2):c.4256_4257del (p.Lys1419fs)
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs) rs1566229958
NM_000059.4(BRCA2):c.426-6_438del rs886040925
NM_000059.4(BRCA2):c.4260delinsAA (p.Asp1420fs) rs2137504553
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter) rs1555283664
NM_000059.4(BRCA2):c.4264G>T (p.Glu1422Ter)
NM_000059.4(BRCA2):c.4266_4267del (p.Glu1422fs) rs1555283667
NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs) rs80359438
NM_000059.4(BRCA2):c.4277del (p.Thr1426fs) rs730881608
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter) rs80358665
NM_000059.4(BRCA2):c.428del (p.Pro143fs) rs886040519
NM_000059.4(BRCA2):c.428dup (p.Val144fs) rs886040519
NM_000059.4(BRCA2):c.429del (p.Val144fs) rs587781945
NM_000059.4(BRCA2):c.4304del (p.Asn1435fs) rs886040520
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs) rs1064794168
NM_000059.4(BRCA2):c.4314del (p.Ala1439fs) rs80359441
NM_000059.4(BRCA2):c.4317_4327del (p.Ala1439_Lys1440insTer) rs2072501463
NM_000059.4(BRCA2):c.4319_4320del (p.Lys1440fs) rs397507328
NM_000059.4(BRCA2):c.4319_4326del (p.Lys1440fs)
NM_000059.4(BRCA2):c.4322_4323del (p.Glu1441fs) rs1593902043
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer) rs1555283735
NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter) rs431825319
NM_000059.4(BRCA2):c.4361del (p.Pro1454fs) rs1593902131
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter) rs876659847
NM_000059.4(BRCA2):c.4376del (p.Asn1459fs) rs1555283752
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs) rs397507715
NM_000059.4(BRCA2):c.4383_4384del (p.Leu1462fs) rs876660510
NM_000059.4(BRCA2):c.4393G>T (p.Glu1465Ter)
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter) rs397507717
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs) rs80359446
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs) rs397507718
NM_000059.4(BRCA2):c.4411A>T (p.Arg1471Ter) rs1555283772
NM_000059.4(BRCA2):c.4412del (p.Arg1471fs)
NM_000059.4(BRCA2):c.4414_4415del (p.Lys1472fs) rs397507332
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.4416_4417del (p.Asn1473fs)
NM_000059.4(BRCA2):c.4419del (p.Asn1473fs) rs1064794337
NM_000059.4(BRCA2):c.4424dup (p.Met1475fs) rs886040530
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter) rs397507719
NM_000059.4(BRCA2):c.4444G>T (p.Glu1482Ter) rs1002900129
NM_000059.4(BRCA2):c.4447del (p.Thr1483fs) rs876660755
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4450_4451del (p.Asp1484fs)
NM_000059.4(BRCA2):c.4454_4463del (p.Ile1485fs)
NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs) rs80359449
NM_000059.4(BRCA2):c.4458del (p.Lys1487fs) rs886040532
NM_000059.4(BRCA2):c.4459_4460insT (p.Lys1487fs)
NM_000059.4(BRCA2):c.4460_4461del (p.Lys1487fs) rs876660026
NM_000059.4(BRCA2):c.4462_4480del (p.His1488fs)
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4467_4474delinsTGTTTTT (p.Lys1489fs) rs886040533
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs) rs397507334
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) rs80359451
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter) rs1057517636
NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs) rs786203492
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.44_45dup (p.Lys16fs)
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs) rs863224827
NM_000059.4(BRCA2):c.4519del (p.Gln1507fs) rs431825321
NM_000059.4(BRCA2):c.451_452dup (p.Val151_Thr152insTer) rs876659317
NM_000059.4(BRCA2):c.451_454dup (p.Thr152fs)
NM_000059.4(BRCA2):c.4523del (p.Gly1508fs)
NM_000059.4(BRCA2):c.4523dup (p.Gln1509fs) rs1593902621
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.4530del (p.Glu1511fs) rs886040537
NM_000059.4(BRCA2):c.4531G>T (p.Glu1511Ter) rs376338226
NM_000059.4(BRCA2):c.4533del (p.Glu1511fs) rs886038106
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs) rs397507725
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs) rs2072507154
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs) rs80359457
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4556_4559del (p.Pro1519fs) rs2137507601
NM_000059.4(BRCA2):c.4556del (p.Pro1519fs) rs397507728
NM_000059.4(BRCA2):c.4563_4564del (p.Leu1522fs) rs483353115
NM_000059.4(BRCA2):c.4576dup (p.Thr1526fs) rs886040539
NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs) rs745456776
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.4(BRCA2):c.4592_4593del (p.Lys1531fs) rs397507731
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs) rs397507731
NM_000059.4(BRCA2):c.4594_4597del (p.Val1532fs) rs886038107
NM_000059.4(BRCA2):c.4609G>T (p.Glu1537Ter) rs753244927
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs) rs869320783
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs) rs869320793
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs) rs876658654
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.4641del (p.Asp1547fs) rs1593902988
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs) rs397507734
NM_000059.4(BRCA2):c.4649_4650del (p.Glu1550fs) rs1593903006
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter) rs876661062
NM_000059.4(BRCA2):c.466_467del (p.Arg155_Asp156insTer) rs886040542
NM_000059.4(BRCA2):c.4672del (p.Ser1558fs)
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs) rs1064794708
NM_000059.4(BRCA2):c.4681dup (p.His1561fs)
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs) rs1593903166
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter) rs878853585
NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter) rs878853585
NM_000059.4(BRCA2):c.4707_4708del (p.Tyr1569_Arg1570delinsTer) rs1555283911
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs) rs80359463
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs) rs80359464
NM_000059.4(BRCA2):c.4715_4718del (p.Ala1572fs)
NM_000059.4(BRCA2):c.471del (p.Lys157fs) rs1060502395
NM_000059.4(BRCA2):c.4721_4725del (p.Lys1574fs) rs1593903272
NM_000059.4(BRCA2):c.4723del (p.Asp1575fs) rs1566231025
NM_000059.4(BRCA2):c.4731_4736delinsG (p.Leu1578fs) rs276174846
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs) rs397507740
NM_000059.4(BRCA2):c.4736_4743dup (p.Thr1582fs)
NM_000059.4(BRCA2):c.473C>G (p.Ser158Ter) rs80358701
NM_000059.4(BRCA2):c.4741G>T (p.Glu1581Ter)
NM_000059.4(BRCA2):c.475+1G>A rs81002797
NM_000059.4(BRCA2):c.475+1G>T rs81002797
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.476-2A>G rs81002853
NM_000059.4(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.4(BRCA2):c.4780del (p.Met1594fs) rs397507742
NM_000059.4(BRCA2):c.4793del (p.Leu1598fs)
NM_000059.4(BRCA2):c.4794_4797del (p.Asn1599fs) rs747418290
NM_000059.4(BRCA2):c.4803_4811delinsGACTCAA (p.Asp1601fs)
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter) rs2072513173
NM_000059.4(BRCA2):c.4805_4812del (p.Lys1602fs)
NM_000059.4(BRCA2):c.4808del (p.Asn1603fs) rs80359466
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs) rs80359466
NM_000059.4(BRCA2):c.4810dup (p.Leu1604fs) rs1555283942
NM_000059.4(BRCA2):c.4817_4818del (p.Ser1606fs)
NM_000059.4(BRCA2):c.4817_4821del (p.Val1605_Ser1606insTer) rs1593903507
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs) rs587782854
NM_000059.4(BRCA2):c.4828dup (p.Val1610fs) rs397507744
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs) rs80359468
NM_000059.4(BRCA2):c.4844del (p.Leu1615fs)
NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter) rs398122786
NM_000059.4(BRCA2):c.4856del (p.Asn1619fs)
NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter) rs80358710
NM_000059.4(BRCA2):c.486del (p.Ser163fs) rs587780653
NM_000059.4(BRCA2):c.4872_4873del (p.Glu1625fs)
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.4884_4885del (p.Lys1628fs) rs1555283971
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.4(BRCA2):c.4894del (p.Ser1632fs) rs1555283980
NM_000059.4(BRCA2):c.4903_4904del (p.Leu1635fs) rs80359471
NM_000059.4(BRCA2):c.4904dup (p.Leu1635fs) rs80359471
NM_000059.4(BRCA2):c.4911del (p.Val1639fs)
NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter) rs886040553
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.491T>A (p.Leu164Ter) rs80358717
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.4(BRCA2):c.4930_4937del (p.Glu1644fs) rs886040554
NM_000059.4(BRCA2):c.4935_4936delinsT (p.Lys1645fs) rs1593903850
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs) rs397507751
NM_000059.4(BRCA2):c.4940_4946del (p.Thr1647fs)
NM_000059.4(BRCA2):c.4943del (p.Ala1648fs) rs2137511937
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs) rs80359474
NM_000059.4(BRCA2):c.4952del (p.Pro1651fs) rs397507752
NM_000059.4(BRCA2):c.4959_4963delinsG (p.Cys1654fs)
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter) rs398122789
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.4965del (p.Cys1654_Tyr1655insTer) rs80359475
NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter) rs886038114
NM_000059.4(BRCA2):c.4979_4980del (p.Pro1660fs)
NM_000059.4(BRCA2):c.4983T>A (p.Tyr1661Ter)
NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter) rs886040559
NM_000059.4(BRCA2):c.4985_4992del (p.Tyr1661_Ser1662insTer)
NM_000059.4(BRCA2):c.4998_5017dup (p.Thr1673delinsIleGlnProTer)
NM_000059.4(BRCA2):c.5006del (p.Ala1668_Leu1669insTer) rs1593904133
NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter) rs864622073
NM_000059.4(BRCA2):c.5017dup (p.Thr1673fs) rs1593904158
NM_000059.4(BRCA2):c.5025T>A (p.Cys1675Ter) rs370591460
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs) rs80359478
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter) rs1555284044
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs) rs1593904263
NM_000059.4(BRCA2):c.5049_5053del (p.Gln1683fs) rs2137513400
NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter) rs398122791
NM_000059.4(BRCA2):c.5062G>T (p.Glu1688Ter)
NM_000059.4(BRCA2):c.5065_5066delinsAAA (p.Ala1689fs) rs276174852
NM_000059.4(BRCA2):c.5066del (p.Ala1689fs) rs2137513666
NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter) rs886038116
NM_000059.4(BRCA2):c.5073del (p.Lys1691fs) rs80359479
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter) rs1555284058
NM_000059.4(BRCA2):c.5076del (p.Trp1692fs) rs876660524
NM_000059.4(BRCA2):c.507del (p.Lys169fs) rs2137450607
NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter) rs200265692
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter) rs938190132
NM_000059.4(BRCA2):c.5087_5090dup (p.Ile1697fs)
NM_000059.4(BRCA2):c.5090dup (p.Phe1698fs)
NM_000059.4(BRCA2):c.5091_5092insAAAA (p.Phe1698fs)
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) rs397507758
NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter) rs80358735
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter) rs1064795652
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs) rs886040567
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs) rs886039318
NM_000059.4(BRCA2):c.512dup (p.Lys172fs) rs398122793
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter) rs876661056
NM_000059.4(BRCA2):c.5141_5144del (p.Tyr1714fs) rs80359487
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5157_5161del (p.Asn1719fs) rs80359488
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs) rs80359489
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.4(BRCA2):c.516+1G>A rs397507762
NM_000059.4(BRCA2):c.516+1G>C rs397507762
NM_000059.4(BRCA2):c.516+2T>A rs397507764
NM_000059.4(BRCA2):c.5162del (p.Asn1721fs) rs1555284090
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs) rs397507765
NM_000059.4(BRCA2):c.517-1G>A rs81002849
NM_000059.4(BRCA2):c.5171_5172dup (p.Ala1725Ter) rs587782075
NM_000059.4(BRCA2):c.5184_5185del (p.Asp1728fs) rs1555284094
NM_000059.4(BRCA2):c.5189dup (p.Asn1730fs)
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) rs80359492
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs) rs876660228
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs) rs80359483
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000059.4(BRCA2):c.5205_5208del (p.Gln1736fs) rs886040575
NM_000059.4(BRCA2):c.5205dup (p.Gln1736fs) rs483353082
NM_000059.4(BRCA2):c.5207_5208del (p.Gln1736fs) rs397507773
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5216_5217insAAA (p.Tyr1739Ter) rs886040578
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter) rs886040578
NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter) rs80358746
NM_000059.4(BRCA2):c.5217T>G (p.Tyr1739Ter) rs80358746
NM_000059.4(BRCA2):c.5217_5218delinsC (p.Tyr1739_Leu1740insTer) rs886040579
NM_000059.4(BRCA2):c.5217_5219del (p.Tyr1739_Leu1740delinsTer)
NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer) rs80359494
NM_000059.4(BRCA2):c.5217_5221del (p.Tyr1739_Ser1741delinsTer) rs80359495
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5217_5224del rs80359497
NM_000059.4(BRCA2):c.5221_5225delinsC (p.Ser1741fs) rs786202798
NM_000059.4(BRCA2):c.5221del (p.Ser1741fs)
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs) rs80359498
NM_000059.4(BRCA2):c.522del (p.Gln175fs) rs1060502465
NM_000059.4(BRCA2):c.5236del (p.Ser1746fs) rs1593904901
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter) rs750385844
NM_000059.4(BRCA2):c.5241_5242insTA (p.Ser1748Ter) rs749980674
NM_000059.4(BRCA2):c.5241del (p.Asn1747fs) rs879255457
NM_000059.4(BRCA2):c.5254del (p.His1752fs) rs397507777
NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter) rs886040584
NM_000059.4(BRCA2):c.5266_5269del (p.Val1756fs) rs80359501
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter) rs1555284139
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter) rs80358751
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter) rs80358754
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter) rs397507778
NM_000059.4(BRCA2):c.5297dup (p.Asn1766fs) rs1555284157
NM_000059.4(BRCA2):c.5298del (p.Asn1766fs) rs886040586
NM_000059.4(BRCA2):c.5301del (p.Lys1767fs)
NM_000059.4(BRCA2):c.5308del (p.Ser1770fs) rs876659236
NM_000059.4(BRCA2):c.5317G>T (p.Glu1773Ter) rs1566232201
NM_000059.4(BRCA2):c.5327T>A (p.Leu1776Ter)
NM_000059.4(BRCA2):c.5334_5340del (p.Asn1778fs) rs876658888
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter) rs80358757
NM_000059.4(BRCA2):c.534del (p.Lys178fs) rs1191198388
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5350_5351delinsT (p.Asn1784fs) rs397507779
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5352dup (p.Thr1785fs) rs1555284188
NM_000059.4(BRCA2):c.5353del (p.Thr1785fs) rs786202385
NM_000059.4(BRCA2):c.5355_5356del (p.Ser1786fs) rs1555284191
NM_000059.4(BRCA2):c.5357del (p.Ser1786fs) rs876659482
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs) rs587779364
NM_000059.4(BRCA2):c.5373_5374del (p.Ser1792fs) rs1593905291
NM_000059.4(BRCA2):c.5374del (p.Ser1792fs)
NM_000059.4(BRCA2):c.5379del (p.Asn1793fs) rs1593905326
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs) rs587782598
NM_000059.4(BRCA2):c.5386_5393del (p.Asp1796fs)
NM_000059.4(BRCA2):c.5386del (p.Asp1796fs) rs587776467
NM_000059.4(BRCA2):c.538_539del (p.Ile180fs) rs80359510
NM_000059.4(BRCA2):c.538_539dup (p.Ser181fs) rs80359510
NM_000059.4(BRCA2):c.5390del (p.Ala1797fs) rs730882168
NM_000059.4(BRCA2):c.5403del (p.Gln1802fs)
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter) rs80358763
NM_000059.4(BRCA2):c.5404_5405del (p.Gln1802fs) rs1593905386
NM_000059.4(BRCA2):c.5409_5412del (p.Val1804fs) rs2137517259
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs) rs80359512
NM_000059.4(BRCA2):c.5422_5423del (p.Ile1808fs) rs587781585
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs) rs397507784
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter) rs80358767
NM_000059.4(BRCA2):c.5436del (p.Glu1812fs) rs397507351
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000059.4(BRCA2):c.5454del (p.Cys1820fs) rs80359513
NM_000059.4(BRCA2):c.5468_5475dup (p.Ala1826fs)
NM_000059.4(BRCA2):c.5470_5471del (p.Asn1824fs) rs80359515
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs) rs80359515
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) rs80359516
NM_000059.4(BRCA2):c.5490del (p.Ile1831fs)
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter) rs786203853
NM_000059.4(BRCA2):c.5500_5501del (p.Asn1833_Ser1834insTer)
NM_000059.4(BRCA2):c.5501_5504del (p.Ser1834fs)
NM_000059.4(BRCA2):c.5513del (p.Glu1838fs)
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.554del (p.Gly185fs) rs2137452259
NM_000059.4(BRCA2):c.5551del (p.Ile1851fs) rs886040594
NM_000059.4(BRCA2):c.5556_5557insC (p.Cys1853fs)
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs) rs397507787
NM_000059.4(BRCA2):c.5564C>G (p.Ser1855Ter)
NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter) rs80358778
NM_000059.4(BRCA2):c.5569_5573del (p.Glu1857fs) rs397507788
NM_000059.4(BRCA2):c.5569del (p.Glu1857fs)
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer) rs397507355
NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter) rs431825332
NM_000059.4(BRCA2):c.5580_5583del (p.Lys1860_Lys1861insTer) rs397507790
NM_000059.4(BRCA2):c.5580_5584del (p.Lys1860fs) rs397507789
NM_000059.4(BRCA2):c.5583del (p.Lys1861_Val1862insTer) rs397507790
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs) rs397507790
NM_000059.4(BRCA2):c.5584_5587del (p.Val1862fs) rs398122535
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs) rs80359523
NM_000059.4(BRCA2):c.5590_5593del (p.Asp1864fs) rs879255460
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs) rs80359524
NM_000059.4(BRCA2):c.5603_5606del (p.Asp1868fs) rs397507356
NM_000059.4(BRCA2):c.5604_5605del (p.Asp1868fs) rs773229361
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5617_5621del (p.Lys1872_Val1873insTer) rs1593905968
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.5626G>T (p.Glu1876Ter) rs397507793
NM_000059.4(BRCA2):c.5630del (p.Asn1877fs) rs876660636
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs) rs397507357
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter) rs55996097
NM_000059.4(BRCA2):c.5641_5644del (p.Lys1881fs) rs276174860
NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs) rs1555284326
NM_000059.4(BRCA2):c.5644_5648del (p.Ser1882fs)
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter) rs80358789
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter) rs80358790
NM_000059.4(BRCA2):c.5659del (p.Thr1887fs) rs2072535063
NM_000059.4(BRCA2):c.5665del (p.Ile1889fs) rs397507796
NM_000059.4(BRCA2):c.5667del (p.Met1890fs) rs1593906137
NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs) rs876660311
NM_000059.4(BRCA2):c.5675del (p.Gly1892fs) rs1593906164
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.568_575del (p.Pro190fs) rs886040605
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs) rs398122539
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter) rs397507797
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs) rs80359528
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer) rs80359530
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs) rs886040608
NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs) rs794727014
NM_000059.4(BRCA2):c.5727_5728insG (p.Asn1910fs) rs1593906350
NM_000059.4(BRCA2):c.5728_5729dup (p.Asn1910fs)
NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter) rs397507800
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5750C>G (p.Ser1917Ter) rs886040609
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs) rs397507803
NM_000059.4(BRCA2):c.5756del (p.Lys1919fs)
NM_000059.4(BRCA2):c.5763del (p.Phe1921fs) rs80359534
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs) rs80359534
NM_000059.4(BRCA2):c.5764del (p.Ala1922fs)
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs) rs80359535
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter) rs80358806
NM_000059.4(BRCA2):c.5776_5777del (p.Gln1925_Ser1926insTer)
NM_000059.4(BRCA2):c.5778_5779del (p.Ser1926fs) rs80359536
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter) rs56253082
NM_000059.4(BRCA2):c.5789T>A (p.Leu1930Ter) rs397507805
NM_000059.4(BRCA2):c.5789T>G (p.Leu1930Ter) rs397507805
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.5791_5806del (p.Gln1931fs)
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs) rs80359537
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs) rs1555284402
NM_000059.4(BRCA2):c.5807_5816delinsGTC (p.Met1936fs) rs1555284407
NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs) rs886040612
NM_000059.4(BRCA2):c.5812_5813delinsC (p.Gly1938fs)
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5822_5823del (p.Lys1941fs)
NM_000059.4(BRCA2):c.5823del (p.Val1942fs) rs80359540
NM_000059.4(BRCA2):c.5826_5827del (p.Val1942_Ser1943insTer) rs1555284412
NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter) rs80358810
NM_000059.4(BRCA2):c.5835dup (p.Ser1946fs) rs886040614
NM_000059.4(BRCA2):c.5842del (p.Cys1948fs) rs398122541
NM_000059.4(BRCA2):c.5845del (p.Asp1949fs)
NM_000059.4(BRCA2):c.5846del (p.Asp1949fs) rs1555284423
NM_000059.4(BRCA2):c.584C>A (p.Ser195Ter)
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter) rs886038053
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter) rs80359543
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.4(BRCA2):c.5857del (p.Glu1953fs) rs80359545
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.5863del (p.Ser1955fs) rs80359546
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) rs80358815
NM_000059.4(BRCA2):c.5871del (p.Cys1958fs) rs2137521888
NM_000059.4(BRCA2):c.5874T>A (p.Cys1958Ter)
NM_000059.4(BRCA2):c.5879_5883del (p.Cys1960fs)
NM_000059.4(BRCA2):c.5884_5887del (p.Ile1962fs)
NM_000059.4(BRCA2):c.5899A>T (p.Lys1967Ter) rs988285170
NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer) rs1593880798
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.5911del (p.Ser1971fs) rs1555284457
NM_000059.4(BRCA2):c.5912del (p.Ser1971fs) rs1555284458
NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter) rs80358825
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.4(BRCA2):c.5928del (p.Ile1977fs) rs1593906951
NM_000059.4(BRCA2):c.5934dup (p.Ser1979Ter) rs80359548
NM_000059.4(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer) rs786202156
NM_000059.4(BRCA2):c.5944dup (p.Ser1982fs) rs796460349
NM_000059.4(BRCA2):c.5947G>T (p.Gly1983Ter) rs1555284478
NM_000059.4(BRCA2):c.594del (p.Ala199fs)
NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs) rs397507814
NM_000059.4(BRCA2):c.5955_5959del (p.Val1986fs)
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter) rs80358828
NM_000059.4(BRCA2):c.5963dup (p.Ser1989fs) rs2072542766
NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter) rs886038134
NM_000059.4(BRCA2):c.5968_5969del (p.Asp1990fs) rs80359552
NM_000059.4(BRCA2):c.5969del (p.Asp1990fs) rs886038135
NM_000059.4(BRCA2):c.5984del (p.Asn1995fs) rs397507818
NM_000059.4(BRCA2):c.5984dup (p.Asn1995fs) rs397507818
NM_000059.4(BRCA2):c.5985del (p.Asn1995fs) rs2137522955
NM_000059.4(BRCA2):c.6010G>T (p.Glu2004Ter)
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs) rs2137523279
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter) rs80358838
NM_000059.4(BRCA2):c.6033_6034del (p.Ser2012fs) rs397507823
NM_000059.4(BRCA2):c.6036del (p.Val2014fs) rs1555284508
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter) rs587776468
NM_000059.4(BRCA2):c.6048del (p.Phe2016fs) rs886040629
NM_000059.4(BRCA2):c.6049A>T (p.Lys2017Ter) rs886040630
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.4(BRCA2):c.6068_6072del (p.Asp2023fs) rs80359555
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter) rs80358844
NM_000059.4(BRCA2):c.6070del (p.Gln2024fs)
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs) rs80359557
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs) rs397507826
NM_000059.4(BRCA2):c.6082G>T (p.Glu2028Ter) rs397507827
NM_000059.4(BRCA2):c.6082_6083del (p.Glu2028fs) rs886040634
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter) rs397507828
NM_000059.4(BRCA2):c.6085del (p.Glu2029fs) rs1555284533
NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs) rs587782717
NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs) rs397507829
NM_000059.4(BRCA2):c.610del (p.Ser205fs) rs80359560
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6121dup (p.Ser2041fs)
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter) rs80358851
NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs) rs80359561
NM_000059.4(BRCA2):c.612dup (p.Ser205Ter)
NM_000059.4(BRCA2):c.6136dup (p.Ser2046fs)
NM_000059.4(BRCA2):c.6137C>G (p.Ser2046Ter)
NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter) rs1466688245
NM_000059.4(BRCA2):c.6151_6152del (p.Asn2051fs) rs886038141
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter) rs786202461
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter) rs786202461
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.4(BRCA2):c.6187_6197del (p.Gly2063fs) rs1555284584
NM_000059.4(BRCA2):c.6201del (p.Ile2068fs) rs80359565
NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs) rs397507833
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter) rs80358859
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs) rs276174866
NM_000059.4(BRCA2):c.6211del (p.Ser2071fs) rs431825338
NM_000059.4(BRCA2):c.6216del (p.Leu2073fs) rs80359567
NM_000059.4(BRCA2):c.6223A>T (p.Lys2075Ter) rs1555284602
NM_000059.4(BRCA2):c.6223_6227del (p.His2074_Lys2075insTer)
NM_000059.4(BRCA2):c.6225dup (p.Val2076fs) rs886040641
NM_000059.4(BRCA2):c.6226_6229del (p.Val2076fs) rs587782799
NM_000059.4(BRCA2):c.6227_6231del (p.Val2076fs)
NM_000059.4(BRCA2):c.622_626dup (p.Ile210fs)
NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter) rs886040642
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs) rs2072549980
NM_000059.4(BRCA2):c.6254T>A (p.Leu2085Ter)
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs) rs1064794647
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs) rs276174868
NM_000059.4(BRCA2):c.6267_6274del (p.Glu2089fs) rs876658425
NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs) rs80359571
NM_000059.4(BRCA2):c.6273_6274insA (p.Leu2092fs) rs1064793860
NM_000059.4(BRCA2):c.6277del (p.His2093fs)
NM_000059.4(BRCA2):c.6284C>G (p.Ser2095Ter) rs1593908124
NM_000059.4(BRCA2):c.6291del (p.Ser2098fs) rs2137526091
NM_000059.4(BRCA2):c.6297_6303delinsTCC (p.Arg2099fs) rs1593908171
NM_000059.4(BRCA2):c.6304_6305del (p.Val2102fs) rs886040648
NM_000059.4(BRCA2):c.6305dup (p.Ser2103fs) rs1555284628
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs) rs886040649
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6320del (p.Pro2107fs) rs886040650
NM_000059.4(BRCA2):c.6327dup (p.Asp2110Ter) rs1555284637
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs) rs587781470
NM_000059.4(BRCA2):c.6332dup (p.Arg2112fs) rs876659617
NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs) rs397507369
NM_000059.4(BRCA2):c.6335_6336del (p.Arg2112fs) rs80359574
NM_000059.4(BRCA2):c.6336_6340delinsTTT (p.Arg2112fs) rs1555284643
NM_000059.4(BRCA2):c.6349dup (p.Cys2117fs) rs587781566
NM_000059.4(BRCA2):c.6351T>A (p.Cys2117Ter) rs876659368
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs) rs80359576
NM_000059.4(BRCA2):c.6355_6357delinsT (p.Asn2119fs) rs1555284649
NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter) rs397507845
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs) rs886038144
NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs) rs786203430
NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs) rs1555284655
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs) rs80359577
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs) rs80359577
NM_000059.4(BRCA2):c.6379del (p.Ser2127fs) rs1064795216
NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter) rs886040653
NM_000059.4(BRCA2):c.6387_6395delinsTTTA (p.Glu2129fs) rs1593908459
NM_000059.4(BRCA2):c.6387del (p.Glu2129fs) rs2137526963
NM_000059.4(BRCA2):c.638del (p.Asn213fs)
NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter) rs397507848
NM_000059.4(BRCA2):c.6392_6396del (p.Lys2131fs) rs398122555
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs) rs397507849
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.6395T>G (p.Leu2132Ter) rs1555284658
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs) rs431825342
NM_000059.4(BRCA2):c.6401_6404del (p.Asn2134fs) rs80359583
NM_000059.4(BRCA2):c.6405_6408del (p.Asn2135fs) rs398122556
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs) rs397507851
NM_000059.4(BRCA2):c.6410del (p.Asn2137fs) rs886038146
NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter) rs149330893
NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter) rs149330893
NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer) rs397507854
NM_000059.4(BRCA2):c.6434_6441del (p.Asn2145fs) rs397507371
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs) rs80359587
NM_000059.4(BRCA2):c.6443_6444del (p.Ser2148fs) rs80359589
NM_000059.4(BRCA2):c.6443_6447del (p.His2147_Ser2148insTer)
NM_000059.4(BRCA2):c.6444del (p.Ile2149fs) rs398122557
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs) rs80359590
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) rs80359592
NM_000059.4(BRCA2):c.6445_6446delinsTTAA (p.Ile2149fs)
NM_000059.4(BRCA2):c.6445_6446dup (p.Lys2150fs)
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs) rs876660421
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.4(BRCA2):c.6447del (p.Val2151fs) rs886040657
NM_000059.4(BRCA2):c.6449_6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6450del (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6458del (p.Pro2153fs) rs786203660
NM_000059.4(BRCA2):c.6461_6462del (p.Tyr2154fs)
NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter) rs80358883
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6468dup (p.Gln2157fs)
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter) rs397507859
NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs) rs1555284710
NM_000059.4(BRCA2):c.6475C>T (p.Gln2159Ter) rs398122558
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter) rs886040658
NM_000059.4(BRCA2):c.6480del (p.Asp2161fs) rs1064793471
NM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs) rs886039319
NM_000059.4(BRCA2):c.6484A>T (p.Lys2162Ter) rs1555284717
NM_000059.4(BRCA2):c.6485_6487delinsGACA (p.Lys2162fs)
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.4(BRCA2):c.6487dup (p.Gln2163fs) rs2137528047
NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter) rs397507860
NM_000059.4(BRCA2):c.6490del (p.Gln2164fs) rs80359599
NM_000059.4(BRCA2):c.6491del (p.Gln2164fs) rs1135401914
NM_000059.4(BRCA2):c.6494del (p.Leu2165fs) rs276174874
NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter) rs886040660
NM_000059.4(BRCA2):c.6513_6514del (p.Ser2172fs) rs1555284730
NM_000059.4(BRCA2):c.6514_6515del (p.Ser2172fs) rs886040662
NM_000059.4(BRCA2):c.6516del (p.Val2174fs) rs2072558268
NM_000059.4(BRCA2):c.6520_6525delinsTCCCA (p.Val2174fs)
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs) rs397507865
NM_000059.4(BRCA2):c.6531dup (p.His2178fs) rs886040664
NM_000059.4(BRCA2):c.6532dup (p.His2178fs) rs886037798
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000059.4(BRCA2):c.6541G>T (p.Gly2181Ter) rs371067421
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter) rs397507866
NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter) rs80358887
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter) rs397507867
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.6567_6573del (p.Asn2189fs) rs876660676
NM_000059.4(BRCA2):c.6574del (p.Met2192fs) rs1060502392
NM_000059.4(BRCA2):c.6574dup (p.Met2192fs)
NM_000059.4(BRCA2):c.6580dup (p.Ile2194fs) rs886040668
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6591del (p.Glu2198fs) rs80359606
NM_000059.4(BRCA2):c.6596del (p.Thr2199fs) rs876658294
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6601del (p.Ser2201fs) rs80359607
NM_000059.4(BRCA2):c.6611del (p.Pro2204fs) rs1135401915
NM_000059.4(BRCA2):c.6625dup (p.Ile2209fs) rs886040670
NM_000059.4(BRCA2):c.6626_6627del (p.Ile2209fs) rs80359610
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter) rs80359610
NM_000059.4(BRCA2):c.6627_6634del (p.Ile2209fs) rs397507870
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs) rs80359609
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs) rs397507871
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs) rs80359613
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter) rs80359615
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter) rs80358892
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter) rs1555284779
NM_000059.4(BRCA2):c.6655dup (p.Ser2219fs)
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6662del (p.Asn2221fs) rs1064794812
NM_000059.4(BRCA2):c.6663_6664insAAAG (p.Tyr2222fs) rs786202157
NM_000059.4(BRCA2):c.666del (p.His223fs)
NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs) rs80359619
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs) rs1555284790
NM_000059.4(BRCA2):c.6682dup (p.Val2228fs) rs80359621
NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter) rs730881548
NM_000059.4(BRCA2):c.668del (p.His223fs) rs876659261
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs) rs878853301
NM_000059.4(BRCA2):c.6699_6702dup (p.Met2235fs) rs587781516
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.67+1G>T rs81002796
NM_000059.4(BRCA2):c.67+1del rs886040931
NM_000059.4(BRCA2):c.6702del (p.Phe2234fs) rs587781516
NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs) rs587782667
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter) rs276174876
NM_000059.4(BRCA2):c.6723dup (p.Asp2242fs) rs1555284827
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs) rs397507375
NM_000059.4(BRCA2):c.6727_6728insAGT (p.Ser2243Ter)
NM_000059.4(BRCA2):c.6727del (p.Ser2243fs) rs886039320
NM_000059.4(BRCA2):c.6727dup (p.Ser2243fs)
NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter) rs886040675
NM_000059.4(BRCA2):c.6735delinsTT (p.Pro2246fs)
NM_000059.4(BRCA2):c.6739dup (p.Ser2247fs) rs2137530289
NM_000059.4(BRCA2):c.6752del (p.His2251fs)
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs) rs80359623
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs) rs786204279
NM_000059.4(BRCA2):c.6781G>T (p.Glu2261Ter) rs876660812
NM_000059.4(BRCA2):c.68-5A>G rs1555280326
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter) rs377698594
NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter) rs377698594
NM_000059.4(BRCA2):c.6809del (p.Gly2270fs) rs80359625
NM_000059.4(BRCA2):c.6810_6811insT (p.Lys2271Ter)
NM_000059.4(BRCA2):c.6814A>T (p.Arg2272Ter)
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs) rs397507885
NM_000059.4(BRCA2):c.6815del (p.Arg2272fs)
NM_000059.4(BRCA2):c.6816_6817del (p.Gly2274fs) rs397507886
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.682-1G>A
NM_000059.4(BRCA2):c.682-2A>C rs878853287
NM_000059.4(BRCA2):c.682-2A>G rs878853287
NM_000059.4(BRCA2):c.6828_6829insTAGAGCCC (p.Leu2277Ter)
NM_000059.4(BRCA2):c.6828_6831dup (p.Ile2278fs)
NM_000059.4(BRCA2):c.6832dup (p.Ile2278fs) rs1593909929
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs) rs80359626
NM_000059.4(BRCA2):c.6836_6837delinsCTTTGTGGTAAGTTT (p.Leu2279delinsSerLeuTrpTer) rs587781480
NM_000059.4(BRCA2):c.6842-587_7007+2347dup
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter) rs80358913
NM_000059.4(BRCA2):c.692dup (p.Ser231fs) rs2072384782
NM_000059.4(BRCA2):c.6937+90_7008-2768dup
NM_000059.4(BRCA2):c.6941dup (p.Ile2315fs) rs1593913171
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.6956del (p.Arg2319fs)
NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter) rs80358923
NM_000059.4(BRCA2):c.696_697delinsC (p.Ser234fs)
NM_000059.4(BRCA2):c.6975_6976del (p.Ser2326fs) rs886040679
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.6981_7005del (p.Leu2327fs) rs1555285350
NM_000059.4(BRCA2):c.6987_6989delinsTGTG (p.Ile2330fs) rs1555285358
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs) rs80359631
NM_000059.4(BRCA2):c.6990dup (p.Thr2331fs) rs876658789
NM_000059.4(BRCA2):c.6997_6998del (p.Val2333fs) rs1593913331
NM_000059.4(BRCA2):c.6997_6998dup (p.Pro2334fs) rs1593913331
NM_000059.4(BRCA2):c.7002del (p.Arg2336fs) rs869040376
NM_000059.4(BRCA2):c.7004_7007+2del rs397507890
NM_000059.4(BRCA2):c.7007+1G>C rs397507891
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7008-2A>G rs81002823
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.700del (p.Ser234fs) rs80359630
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs) rs80359634
NM_000059.4(BRCA2):c.7026del (p.Glu2343fs) rs786203546
NM_000059.4(BRCA2):c.7030del (p.Ile2344fs)
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.7036_7039del (p.Asn2346fs)
NM_000059.4(BRCA2):c.7047del (p.Phe2349fs) rs397507893
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7089T>G (p.Tyr2363Ter)
NM_000059.4(BRCA2):c.7090G>T (p.Glu2364Ter) rs80358940
NM_000059.4(BRCA2):c.7093del (p.His2365fs)
NM_000059.4(BRCA2):c.7097del (p.Leu2366fs)
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.4(BRCA2):c.7103del (p.Leu2368fs)
NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter) rs80358943
NM_000059.4(BRCA2):c.7117_7121del (p.Ser2373fs)
NM_000059.4(BRCA2):c.7121_7128del (p.Asn2374fs)
NM_000059.4(BRCA2):c.7126_7127del (p.Ala2376fs) rs2137556120
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) rs276174889
NM_000059.4(BRCA2):c.7142del (p.Pro2381fs) rs398122576
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs) rs276174890
NM_000059.4(BRCA2):c.715del (p.Ser239fs) rs431825350
NM_000059.4(BRCA2):c.7169del (p.Asn2390fs)
NM_000059.4(BRCA2):c.716del (p.Ser239fs)
NM_000059.4(BRCA2):c.7177dup (p.Met2393fs) rs397507899
NM_000059.4(BRCA2):c.7183del (p.His2395fs) rs397507900
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs) rs1555286031
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer) rs80359637
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer) rs397507903
NM_000059.4(BRCA2):c.71dup (p.Leu24fs)
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs) rs80359641
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs) rs876659770
NM_000059.4(BRCA2):c.7210A>T (p.Lys2404Ter) rs886040691
NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs) rs397507904
NM_000059.4(BRCA2):c.7211_7212del (p.Lys2404fs) rs80359642
NM_000059.4(BRCA2):c.7211_7212delinsGGTT (p.Lys2404fs)
NM_000059.4(BRCA2):c.7218dup (p.Val2407fs) rs876659345
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter) rs876659100
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs) rs1555286052
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7252A>T (p.Arg2418Ter) rs80358953
NM_000059.4(BRCA2):c.7254_7255del (p.Arg2418fs) rs80359644
NM_000059.4(BRCA2):c.7258G>T (p.Glu2420Ter) rs397507385
NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter) rs730882169
NM_000059.4(BRCA2):c.7279_7283del (p.Asn2427fs) rs1555286065
NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)
NM_000059.4(BRCA2):c.728_729del (p.Asn243fs) rs1593890204
NM_000059.4(BRCA2):c.728del (p.Asn243fs) rs886040697
NM_000059.4(BRCA2):c.728dup (p.Asn243fs) rs886040697
NM_000059.4(BRCA2):c.7295_7296del (p.Arg2432fs)
NM_000059.4(BRCA2):c.7295_7298del (p.Arg2432fs)
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs) rs80359645
NM_000059.4(BRCA2):c.729del (p.Asn243fs)
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs) rs786202441
NM_000059.4(BRCA2):c.7309del (p.Ile2437fs) rs886040699
NM_000059.4(BRCA2):c.732_733dup (p.Arg245fs)
NM_000059.4(BRCA2):c.7339_7340del (p.Lys2446_Asn2447insTer)
NM_000059.4(BRCA2):c.733del (p.Arg245fs) rs876658927
NM_000059.4(BRCA2):c.7341_7342del (p.Asn2447fs) rs876660563
NM_000059.4(BRCA2):c.7342_7343del (p.Lys2448fs) rs397507386
NM_000059.4(BRCA2):c.7356_7375delinsAACAGTTTAAC (p.Asn2452_Lys2459delinsLysThrValTer)
NM_000059.4(BRCA2):c.7360del (p.Ile2454fs) rs80359646
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter) rs397507913
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs) rs80359647
NM_000059.4(BRCA2):c.7379_7382del (p.Asn2460fs) rs80359648
NM_000059.4(BRCA2):c.738del (p.Phe246fs) rs1566221413
NM_000059.4(BRCA2):c.7390C>T (p.Gln2464Ter) rs572945276
NM_000059.4(BRCA2):c.7393del (p.Ala2465fs) rs1593918565
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs) rs397507915
NM_000059.4(BRCA2):c.7412_7421del (p.Thr2471fs) rs80359649
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.4(BRCA2):c.7417_7418insTC (p.Cys2473fs)
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter) rs1555286120
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer) rs80359651
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter) rs1566241336
NM_000059.4(BRCA2):c.7443del (p.Thr2482fs) rs80359652
NM_000059.4(BRCA2):c.7453C>T (p.Gln2485Ter) rs1593919442
NM_000059.4(BRCA2):c.7459_7484del (p.Asn2486_Ala2487insTer) rs1064795884
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter) rs80358971
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter) rs886038171
NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer) rs80359654
NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter) rs876660447
NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter) rs886040711
NM_000059.4(BRCA2):c.7507del (p.Val2503fs)
NM_000059.4(BRCA2):c.7510_7513dup (p.Pro2505fs) rs1566241990
NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter) rs876658631
NM_000059.4(BRCA2):c.7517del (p.Gln2506fs)
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7528_7531dup (p.Tyr2511fs)
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7530_7531del (p.Tyr2511fs) rs886040715
NM_000059.4(BRCA2):c.7538del (p.Ala2513fs) rs397507919
NM_000059.4(BRCA2):c.7540_7549del (p.Lys2514fs) rs1593919707
NM_000059.4(BRCA2):c.7543del (p.Thr2515fs) rs80359657
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs) rs80359657
NM_000059.4(BRCA2):c.754_755del (p.Asp252fs) rs886038056
NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs) rs80359660
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs) rs80359664
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs) rs1566242125
NM_000059.4(BRCA2):c.756_757del (p.Asp252fs) rs80359662
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter) rs1555286291
NM_000059.4(BRCA2):c.7575del (p.Ala2526fs) rs869320797
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs) rs1555286296
NM_000059.4(BRCA2):c.7595_7596insTT (p.Ala2534fs) rs80359666
NM_000059.4(BRCA2):c.7596del (p.Ser2533fs)
NM_000059.4(BRCA2):c.759del (p.Ser253fs)
NM_000059.4(BRCA2):c.7602del (p.Cys2535fs) rs876658470
NM_000059.4(BRCA2):c.7617+1G>A rs397507922
NM_000059.4(BRCA2):c.7617+1G>C rs397507922
NM_000059.4(BRCA2):c.7617+1G>T rs397507922
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7618-1G>A rs397507389
NM_000059.4(BRCA2):c.7618-2A>G rs886040940
NM_000059.4(BRCA2):c.7618-2_7643delinsGTGTTATTTTGTTTTATT
NM_000059.4(BRCA2):c.7626_7637delinsT (p.Thr2542_Tyr2543insTer) rs1555286388
NM_000059.4(BRCA2):c.7626del (p.Tyr2543fs)
NM_000059.4(BRCA2):c.7627dup (p.Tyr2543fs) rs80359668
NM_000059.4(BRCA2):c.7629T>A (p.Tyr2543Ter) rs1064794521
NM_000059.4(BRCA2):c.7631del (p.Gly2544fs) rs886040722
NM_000059.4(BRCA2):c.7641del (p.Lys2547fs) rs2137566280
NM_000059.4(BRCA2):c.7643_7644del (p.His2548fs) rs886040724
NM_000059.4(BRCA2):c.7654dup (p.Ile2552fs) rs879255463
NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs) rs80359669
NM_000059.4(BRCA2):c.7658del (p.Asn2553fs) rs2072708512
NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs) rs878853303
NM_000059.4(BRCA2):c.7671del (p.Glu2558fs) rs397507928
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs) rs80359672
NM_000059.4(BRCA2):c.7673del (p.Glu2558fs) rs878853605
NM_000059.4(BRCA2):c.7676_7677del (p.Ser2559fs) rs1593920773
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs) rs80359673
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs) rs80359670
NM_000059.4(BRCA2):c.7680dup (p.Gln2561fs) rs80359673
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7689del (p.His2563fs) rs80359674
NM_000059.4(BRCA2):c.7701T>A (p.Tyr2567Ter) rs1555286423
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter) rs1555286423
NM_000059.4(BRCA2):c.7704dup (p.Gly2569fs)
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs) rs2137567005
NM_000059.4(BRCA2):c.7718T>G (p.Leu2573Ter) rs786203680
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs) rs80359676
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter) rs80358997
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter) rs1060502433
NM_000059.4(BRCA2):c.7731del (p.Gly2578fs) rs2072710066
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter) rs1593920920
NM_000059.4(BRCA2):c.7734_7744del (p.Gly2578_Ile2579insTer)
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter) rs80358999
NM_000059.4(BRCA2):c.7739dup (p.Leu2581fs) rs1593920939
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) rs75096777
NM_000059.4(BRCA2):c.774_777del (p.Arg259fs) rs1555281477
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.4(BRCA2):c.775del (p.Arg259fs) rs75096777
NM_000059.4(BRCA2):c.7762_7764delinsCC (p.Ile2588fs)
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) rs483353072
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs) rs80359679
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter) rs587782028
NM_000059.4(BRCA2):c.7787G>T (p.Gly2596Val) rs1064795140
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs) rs80359677
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter) rs1135401919
NM_000059.4(BRCA2):c.7795G>T (p.Glu2599Ter) rs41293509
NM_000059.4(BRCA2):c.7805+1G>A rs81002809
NM_000059.4(BRCA2):c.7806-1G>A rs81002860
NM_000059.4(BRCA2):c.7806-1G>T rs81002860
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro) rs431825357
NM_000059.4(BRCA2):c.7815_7816del (p.Cys2605_Asp2606delinsTer) rs886040730
NM_000059.4(BRCA2):c.7816_7819dup (p.Thr2607fs) rs80359684
NM_000059.4(BRCA2):c.7833_7843delinsG (p.Asp2611fs) rs1555286828
NM_000059.4(BRCA2):c.7833_7847delinsGTTTA (p.Asp2611fs) rs2072744986
NM_000059.4(BRCA2):c.7835_7838dup (p.Lys2613fs)
NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs) rs886040867
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.4(BRCA2):c.7855T>G (p.Trp2619Gly)
NM_000059.4(BRCA2):c.7855dup (p.Trp2619fs) rs587781665
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.4(BRCA2):c.7865dup (p.Asn2622fs) rs886040732
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7875dup (p.Trp2626fs) rs1593924059
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter) rs587781506
NM_000059.4(BRCA2):c.7878G>T (p.Trp2626Cys)
NM_000059.4(BRCA2):c.7878del (p.Arg2625_Trp2626insTer) rs1555286842
NM_000059.4(BRCA2):c.7887G>A (p.Trp2629Ter) rs886040734
NM_000059.4(BRCA2):c.7891_7900dup (p.Met2634fs)
NM_000059.4(BRCA2):c.7895dup (p.Ala2633fs) rs2137577202
NM_000059.4(BRCA2):c.7900_7901insAT (p.Met2634fs)
NM_000059.4(BRCA2):c.7900del (p.Met2634fs) rs1566244864
NM_000059.4(BRCA2):c.7902_7903delinsTT (p.Met2634_Glu2635delinsIleTer) rs1593924144
NM_000059.4(BRCA2):c.7907del (p.Cys2636fs)
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs) rs80359688
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs) rs863224828
NM_000059.4(BRCA2):c.7954del (p.Val2652fs) rs80359689
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7964_7965del (p.Gln2655fs)
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.7976+1G>T rs81002873
NM_000059.4(BRCA2):c.7976+2C>G rs886040943
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7980T>G (p.Tyr2660Ter) rs397507949
NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs) rs1555286933
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) rs80359030
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.7992del (p.Ile2664fs)
NM_000059.4(BRCA2):c.7993del (p.Asp2665fs)
NM_000059.4(BRCA2):c.7999del (p.Ser2667fs) rs1064795578
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.4(BRCA2):c.7dup (p.Ile3fs) rs1555280093
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.4(BRCA2):c.8009C>A (p.Ser2670Ter) rs80359035
NM_000059.4(BRCA2):c.8009del (p.Ser2670fs) rs876659606
NM_000059.4(BRCA2):c.800del (p.Gly267fs)
NM_000059.4(BRCA2):c.8021del (p.Lys2674fs) rs397507952
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs) rs397507952
NM_000059.4(BRCA2):c.8029del (p.Glu2677fs) rs80359691
NM_000059.4(BRCA2):c.8032del (p.Arg2678fs) rs1555286962
NM_000059.4(BRCA2):c.8042_8043del (p.Thr2681fs) rs276174901
NM_000059.4(BRCA2):c.8042del (p.Thr2681fs)
NM_000059.4(BRCA2):c.8043del (p.Ala2682fs)
NM_000059.4(BRCA2):c.8047_8054dup (p.Leu2686fs) rs397507957
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs) rs397507958
NM_000059.4(BRCA2):c.8055_8056del (p.Leu2686fs) rs1593924968
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8057_8058del (p.Leu2686fs)
NM_000059.4(BRCA2):c.8058del (p.Val2687fs) rs80359692
NM_000059.4(BRCA2):c.805del (p.Thr269fs)
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8068_8069del (p.Val2690fs) rs80359694
NM_000059.4(BRCA2):c.8072_8073del (p.Val2690_Ser2691insTer) rs397507963
NM_000059.4(BRCA2):c.8084C>G (p.Ser2695Ter) rs80359048
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter) rs80359050
NM_000059.4(BRCA2):c.8087del (p.Ser2695_Leu2696insTer) rs80359695
NM_000059.4(BRCA2):c.809C>A (p.Ser270Ter)
NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter) rs276174902
NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer) rs1555287001
NM_000059.4(BRCA2):c.8111delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser2704Ter) rs1593925106
NM_000059.4(BRCA2):c.8117del (p.Asn2706fs)
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs) rs80359696
NM_000059.4(BRCA2):c.8130dup (p.Ala2711fs)
NM_000059.4(BRCA2):c.813del (p.Asn272fs) rs1555281599
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.4(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.4(BRCA2):c.8157del (p.Ile2719fs)
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs) rs2137581286
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys) rs80359062
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8172_8175dup (p.Tyr2726fs) rs397507964
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter) rs730881581
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) rs730881615
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter) rs397507965
NM_000059.4(BRCA2):c.8175del (p.Trp2725fs)
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter) rs80359068
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter) rs397507966
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer) rs398122599
NM_000059.4(BRCA2):c.8205_8206del (p.Leu2737fs) rs397507396
NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8208_8209insAG (p.Leu2737fs) rs483353122
NM_000059.4(BRCA2):c.8221A>T (p.Lys2741Ter)
NM_000059.4(BRCA2):c.8222dup (p.Asn2742fs)
NM_000059.4(BRCA2):c.8225_8226del (p.Asn2742fs)
NM_000059.4(BRCA2):c.8230dup (p.Arg2744fs)
NM_000059.4(BRCA2):c.8234_8237del (p.Leu2745fs) rs80359699
NM_000059.4(BRCA2):c.8234dup (p.Thr2746fs) rs276174903
NM_000059.4(BRCA2):c.8237_8238del (p.Thr2746fs) rs80359700
NM_000059.4(BRCA2):c.8245C>T (p.Gln2749Ter) rs1135401925
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs) rs80359701
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs) rs80359704
NM_000059.4(BRCA2):c.8265_8275del (p.Ala2756fs)
NM_000059.4(BRCA2):c.8268del (p.Glu2757fs) rs1593925596
NM_000059.4(BRCA2):c.826_829del (p.Val276fs)
NM_000059.4(BRCA2):c.8276_8279del (p.Val2759fs) rs886040753
NM_000059.4(BRCA2):c.8285del (p.Pro2762fs) rs397507972
NM_000059.4(BRCA2):c.8298_8299dup (p.Pro2767fs) rs397507973
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs) rs398122601
NM_000059.4(BRCA2):c.8312del rs879255469
NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter) rs397507975
NM_000059.4(BRCA2):c.831del (p.Asn277fs) rs1555281604
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs) rs80359706
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter) rs886037818
NM_000059.4(BRCA2):c.8330del (p.Lys2777fs) rs886040762
NM_000059.4(BRCA2):c.8332-1G>T rs397507979
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs)
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs) rs80359707
NM_000059.4(BRCA2):c.8342del (p.Asn2781fs)
NM_000059.4(BRCA2):c.834del (p.Cys279fs) rs876658861
NM_000059.4(BRCA2):c.8350del (p.Arg2784fs) rs1566248664
NM_000059.4(BRCA2):c.8356del (p.Ala2786fs) rs876660043
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter) rs80359080
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter) rs397507981
NM_000059.4(BRCA2):c.8374_8384delinsAGG (p.Leu2792fs) rs886040766
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val) rs80359083
NM_000059.4(BRCA2):c.8393_8396dup (p.Arg2799delinsSerTer) rs886040768
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs) rs276174907
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs) rs80359709
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs) rs483353077
NM_000059.4(BRCA2):c.8405del (p.Pro2802fs)
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs) rs397507402
NM_000059.4(BRCA2):c.8419_8428del (p.Ser2807fs) rs869312760
NM_000059.4(BRCA2):c.841_847del (p.Asp281fs) rs1593891249
NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter) rs55763607
NM_000059.4(BRCA2):c.8426del (p.Phe2809fs) rs1555287643
NM_000059.4(BRCA2):c.8433_8632+531dup
NM_000059.4(BRCA2):c.8434_8435insTT (p.Gly2812fs)
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs) rs397507988
NM_000059.4(BRCA2):c.846_847del (p.Ile283fs) rs886040776
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.8474_8487del (p.Ala2825fs) rs1566248946
NM_000059.4(BRCA2):c.8474del (p.Ala2825fs) rs80359711
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.4(BRCA2):c.8480del (p.Pro2827fs)
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter) rs80359099
NM_000059.4(BRCA2):c.8487+1G>A rs81002798
NM_000059.4(BRCA2):c.8487+1G>T rs81002798
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter) rs80359101
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter) rs587776351
NM_000059.4(BRCA2):c.8494G>T (p.Glu2832Ter) rs876658951
NM_000059.4(BRCA2):c.8497A>T (p.Lys2833Ter) rs1555287732
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter) rs80359102
NM_000059.4(BRCA2):c.8505del (p.Ser2836fs) rs80359713
NM_000059.4(BRCA2):c.8517C>A (p.Tyr2839Ter) rs863224315
NM_000059.4(BRCA2):c.8518del (p.Ile2840fs) rs886040780
NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs) rs397507990
NM_000059.4(BRCA2):c.8535_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8546del (p.Lys2849fs) rs397507991
NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter) rs80359110
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs) rs397507406
NM_000059.4(BRCA2):c.8560del (p.Tyr2854fs) rs80359717
NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter) rs786201333
NM_000059.4(BRCA2):c.8566_8567delinsC (p.Glu2856fs) rs869320798
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter) rs80359115
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter) rs1131692035
NM_000059.4(BRCA2):c.857_860dup (p.Met287fs) rs876660385
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter) rs398122608
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs) rs80359720
NM_000059.4(BRCA2):c.8587dup (p.Glu2863fs)
NM_000059.4(BRCA2):c.8589del (p.Ala2864fs)
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs) rs80359721
NM_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter) rs587782010
NM_000059.4(BRCA2):c.8614G>T (p.Glu2872Ter)
NM_000059.4(BRCA2):c.8622del (p.Glu2875fs)
NM_000059.4(BRCA2):c.8623del (p.Glu2875fs)
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter) rs80359121
NM_000059.4(BRCA2):c.862_868del (p.Pro288fs)
NM_000059.4(BRCA2):c.8636dup (p.Asn2879fs) rs80359723
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs) rs886038184
NM_000059.4(BRCA2):c.8639_8643del (p.Thr2880fs) rs2137612282
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter) rs397508000
NM_000059.4(BRCA2):c.8646del (p.Lys2882fs) rs886040785
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs) rs1135401927
NM_000059.4(BRCA2):c.8672del (p.Thr2891fs)
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8674A>T (p.Arg2892Ter)
NM_000059.4(BRCA2):c.8676del (p.Arg2892fs) rs80359725
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter) rs397508002
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs) rs397507410
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8696_8712del (p.Gln2899fs) rs2137612961
NM_000059.4(BRCA2):c.8697_8721del (p.Gln2899_Asp2900insTer)
NM_000059.4(BRCA2):c.8707G>T (p.Glu2903Ter) rs1555288166
NM_000059.4(BRCA2):c.8715T>G (p.Tyr2905Ter)
NM_000059.4(BRCA2):c.8724del (p.Lys2909fs) rs1555288172
NM_000059.4(BRCA2):c.8725_8731del (p.Lys2909fs)
NM_000059.4(BRCA2):c.8732del (p.Ala2911fs) rs2137613348
NM_000059.4(BRCA2):c.8745_8748dup (p.Glu2918fs) rs80359727
NM_000059.4(BRCA2):c.8754+1G>A rs397508006
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8755-1G>T rs81002812
NM_000059.4(BRCA2):c.8755-1_8776dup rs1593936490
NM_000059.4(BRCA2):c.8755-2A>T rs1566252482
NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer) rs1593936493
NM_000059.4(BRCA2):c.8760T>G (p.Tyr2920Ter) rs886040790
NM_000059.4(BRCA2):c.8761_8767del (p.Phe2921fs) rs1593936506
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter) rs80359133
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter) rs80359134
NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter) rs886040791
NM_000059.4(BRCA2):c.8777T>G (p.Leu2926Ter) rs886040791
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs) rs2072898210
NM_000059.4(BRCA2):c.8805_8806dup (p.Leu2936fs) rs1593936593
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.8818_8824del (p.Lys2940fs) rs1555288379
NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter) rs397508012
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter) rs431825371
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter) rs398122715
NM_000059.4(BRCA2):c.8848delinsCT (p.Lys2950fs) rs276174912
NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs) rs886040796
NM_000059.4(BRCA2):c.8855del (p.Met2952fs)
NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter) rs775261666
NM_000059.4(BRCA2):c.8857_8863del (p.Glu2953fs)
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter) rs276174913
NM_000059.4(BRCA2):c.8873del (p.Lys2958fs) rs1593936782
NM_000059.4(BRCA2):c.8873dup (p.Glu2959fs) rs1593936782
NM_000059.4(BRCA2):c.8875G>T (p.Glu2959Ter) rs786202920
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.887del (p.Tyr296fs)
NM_000059.4(BRCA2):c.888T>A (p.Tyr296Ter) rs876659359
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs) rs397508017
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs) rs1593936840
NM_000059.4(BRCA2):c.8900del (p.Thr2967fs) rs1566252738
NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs) rs864622735
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.8915del (p.Leu2972fs) rs397508019
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.4(BRCA2):c.8923_8950del (p.Val2975fs)
NM_000059.4(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.892del (p.Thr298fs)
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter) rs886040801
NM_000059.4(BRCA2):c.8940dup (p.Glu2981fs) rs80359732
NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter) rs139052578
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs) rs1593936980
NM_000059.4(BRCA2):c.8945_8946del (p.Lys2982fs) rs80359733
NM_000059.4(BRCA2):c.8946dup (p.Asp2983fs) rs80359733
NM_000059.4(BRCA2):c.8948_8953+5del rs276174915
NM_000059.4(BRCA2):c.8950del (p.Ser2984fs) rs397508022
NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter) rs80359146
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter) rs80359146
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.8953+2T>G rs886040947
NM_000059.4(BRCA2):c.8954-1_8955delinsAA rs276174916
NM_000059.4(BRCA2):c.8956_8960del (p.Ile2986fs)
NM_000059.4(BRCA2):c.8956_8962del (p.Ile2986fs)
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter) rs80359148
NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter) rs80359149
NM_000059.4(BRCA2):c.8970del (p.Trp2990fs)
NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter) rs397508025
NM_000059.4(BRCA2):c.8978_8991del (p.Ser2993fs) rs397508026
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs) rs1555288449
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter) rs864622200
NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs) rs397508027
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter) rs397508028
NM_000059.4(BRCA2):c.8996dup (p.Leu3000fs) rs786202353
NM_000059.4(BRCA2):c.8999T>G (p.Leu3000Ter) rs80359151
NM_000059.4(BRCA2):c.899dup (p.Asp301fs)
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9014_9015del (p.Arg3005fs) rs876661023
NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs) rs80359739
NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter) rs80359154
NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter) rs80359154
NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs) rs786203575
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter) rs864622568
NM_000059.4(BRCA2):c.9027del (p.His3010fs) rs80359742
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs) rs2137622994
NM_000059.4(BRCA2):c.9054_9055del (p.Ser3018fs) rs80359743
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=) rs1799956
NM_000059.4(BRCA2):c.9057del (p.Lys3019fs) rs80359744
NM_000059.4(BRCA2):c.9061G>T (p.Glu3021Ter)
NM_000059.4(BRCA2):c.9064del (p.Arg3022fs)
NM_000059.4(BRCA2):c.9069_9076del (p.Asn3024fs) rs80359746
NM_000059.4(BRCA2):c.906del (p.Ser303fs) rs397508033
NM_000059.4(BRCA2):c.906dup (p.Ser303fs)
NM_000059.4(BRCA2):c.9072dup (p.Ile3025fs)
NM_000059.4(BRCA2):c.9074_9077del (p.Ile3025fs) rs2137623320
NM_000059.4(BRCA2):c.9075dup (p.Gln3026fs) rs2072910192
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9092_9111del (p.Lys3031fs)
NM_000059.4(BRCA2):c.9093_9094delinsG (p.Thr3033fs) rs876660532
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) rs397507419
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter) rs80359163
NM_000059.4(BRCA2):c.9103dup (p.Tyr3035fs) rs1555288507
NM_000059.4(BRCA2):c.9105_9106delinsCAAAAAA (p.Gln3036fs)
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter) rs397508037
NM_000059.4(BRCA2):c.910G>T (p.Glu304Ter) rs1593891461
NM_000059.4(BRCA2):c.9117+1G>A rs81002802
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter) rs398122610
NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs) rs2072912874
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter) rs886040823
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9157del (p.Glu3053fs) rs80359750
NM_000059.4(BRCA2):c.9177del (p.Lys3059fs) rs80359751
NM_000059.4(BRCA2):c.917_920del (p.Asp306fs) rs1555281630
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter) rs80359175
NM_000059.4(BRCA2):c.9183dup (p.Asp3062fs) rs1555288544
NM_000059.4(BRCA2):c.9188del (p.Pro3063fs)
NM_000059.4(BRCA2):c.9194_9195del (p.Phe3065fs) rs587782378
NM_000059.4(BRCA2):c.9194_9195insA (p.Phe3065fs) rs1555288549
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer) rs876659047
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9207T>A (p.Cys3069Ter) rs80359183
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs) rs1555288557
NM_000059.4(BRCA2):c.9219_9228del (p.Ile3075fs) rs1555288559
NM_000059.4(BRCA2):c.9225dup (p.Gly3076fs) rs1555288564
NM_000059.4(BRCA2):c.9226G>T (p.Gly3076Ter)
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs) rs397508040
NM_000059.4(BRCA2):c.9233del (p.Val3078fs) rs876660599
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs) rs886038189
NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter) rs80359190
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs) rs1555288587
NM_000059.4(BRCA2):c.9256+1G>A rs81002883
NM_000059.4(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9257-2_9261dup rs886040953
NM_000059.4(BRCA2):c.9257-5_9278del rs587781648
NM_000059.4(BRCA2):c.925dup (p.Ser309fs) rs886038058
NM_000059.4(BRCA2):c.9262del (p.Ala3088fs) rs786203843
NM_000059.4(BRCA2):c.926dup (p.Leu310fs) rs1555281638
NM_000059.4(BRCA2):c.9270_9288del (p.Tyr3092fs)
NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs) rs397507424
NM_000059.4(BRCA2):c.9274dup (p.Tyr3092fs)
NM_000059.4(BRCA2):c.9275_9276del (p.Tyr3092fs) rs397508043
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter) rs80359197
NM_000059.4(BRCA2):c.9278del (p.Leu3093fs) rs876658643
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter) rs80359199
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs) rs778782209
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter) rs80359200
NM_000059.4(BRCA2):c.929T>A (p.Leu310Ter)
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.930_931del (p.Cys311fs) rs80359755
NM_000059.4(BRCA2):c.930del (p.Leu310fs)
NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter) rs1555289521
NM_000059.4(BRCA2):c.9310_9311del (p.Lys3104fs) rs80359756
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) rs771203198
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs) rs1405341259
NM_000059.4(BRCA2):c.9330dup (p.Glu3111Ter) rs1555289529
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs) rs886040831
NM_000059.4(BRCA2):c.9335del (p.Asp3112fs)
NM_000059.4(BRCA2):c.9335dup (p.Asp3112fs)
NM_000059.4(BRCA2):c.9350del (p.His3117fs) rs886040832
NM_000059.4(BRCA2):c.9351dup (p.Met3118fs) rs886040833
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9356T>A (p.Leu3119Ter) rs80359207
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter) rs80359207
NM_000059.4(BRCA2):c.9357_9360del (p.Ile3120fs) rs886040836
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter) rs80359210
NM_000059.4(BRCA2):c.9376del (p.Gln3126fs) rs398122612
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter) rs80359211
NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter) rs876661242
NM_000059.4(BRCA2):c.9393del (p.Lys3132fs) rs397508049
NM_000059.4(BRCA2):c.9395_9405delinsCTTTATTTG (p.Lys3132fs)
NM_000059.4(BRCA2):c.93del (p.Trp31fs)
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.9403del rs80359760
NM_000059.4(BRCA2):c.9409_9412del (p.Thr3137fs) rs876659211
NM_000059.4(BRCA2):c.940A>T (p.Lys314Ter) rs1593891539
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs) rs876659435
NM_000059.4(BRCA2):c.9423dup (p.Asp3142fs) rs1555289589
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.9444del (p.Ser3149fs) rs1593199940
NM_000059.4(BRCA2):c.9455_9456del (p.Glu3152fs) rs80359764
NM_000059.4(BRCA2):c.9458del (p.Gly3153fs) rs397508052
NM_000059.4(BRCA2):c.9463_9464insGAT (p.Phe3155Ter)
NM_000059.4(BRCA2):c.9473_9474dup (p.Phe3159fs)
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter) rs80359222
NM_000059.4(BRCA2):c.9493dup (p.Thr3165fs)
NM_000059.4(BRCA2):c.949del (p.Thr317fs) rs886040843
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs) rs80359769
NM_000059.4(BRCA2):c.9522_9523delinsAT (p.Asn3174_Glu3175delinsLysTer) rs786202945
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter) rs397507430
NM_000059.4(BRCA2):c.9534del (p.Asn3178fs) rs2073040366
NM_000059.4(BRCA2):c.9556_9567delinsAAGTGGTCCACCCCAACTA (p.Ala3186fs) rs1555289777
NM_000059.4(BRCA2):c.955_958dup (p.Leu320fs)
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter) rs398122617
NM_000059.4(BRCA2):c.9575_9576dup (p.Thr3193fs)
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs) rs80359771
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs) rs2073041280
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000059.4(BRCA2):c.959del (p.Leu320fs) rs1060502454
NM_000059.4(BRCA2):c.959dup (p.Gln321fs)
NM_000059.4(BRCA2):c.9603del (p.Pro3202fs)
NM_000059.4(BRCA2):c.9610_9611del (p.Thr3204fs) rs1555289791
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter) rs80359234
NM_000059.4(BRCA2):c.9633dup (p.Gly3212fs) rs1555289805
NM_000059.4(BRCA2):c.963_966del (p.Gln321_Lys322insTer) rs1566222463
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.4(BRCA2):c.966dup (p.Val323fs)
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs) rs80359774
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter) rs2073049381
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs) rs755175776
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter) rs1593201677
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter) rs746413844
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.96del (p.Phe32fs)
NM_000059.4(BRCA2):c.9712A>T (p.Lys3238Ter)
NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs) rs876660287
NM_000059.4(BRCA2):c.9728del (p.Pro3243fs) rs730881618
NM_000059.4(BRCA2):c.9730_9731del (p.Val3244fs)
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter) rs886040849
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs) rs886040850
NM_000059.4(BRCA2):c.9749C>A (p.Ser3250Ter)
NM_000059.4(BRCA2):c.9749dup (p.Ser3252fs)
NM_000059.4(BRCA2):c.9766_9769del (p.Glu3256fs)
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs) rs587781772
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs) rs1593201815
NM_000059.4(BRCA2):c.9779_9780del (p.Asp3260fs) rs1593201819
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs) rs886040851
NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs) rs1566261027
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs) rs398122622
NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs) rs1555289966
NM_000059.4(BRCA2):c.9871del (p.Ser3291fs) rs886040854
NM_000059.4(BRCA2):c.987delinsCA (p.Arg329fs)
NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter) rs1555290003
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049
NM_000059.4(BRCA2):c.994_995del (p.Ile332fs)
NM_000059.4(BRCA2):c.994del (p.Ile332fs) rs80359777
NM_000059.4(BRCA2):c.994dup (p.Ile332fs) rs80359777
NM_000059.4(BRCA2):c.998del (p.Phe333fs)
NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.51+3A>G
NM_000062.3(SERPING1):c.732_733dup (p.Ser245fs)
NM_000074.3(CD40LG):c.559del (p.Ala187fs) rs1556143529
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.106del (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.122_123delinsT (p.Pro41fs)
NM_000077.5(CDKN2A):c.126dup (p.Ser43Ter) rs2131112280
NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter) rs1554656253
NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer) rs1131691187
NM_000077.5(CDKN2A):c.135dup (p.Arg46fs)
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter) rs864622636
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.151-1G>C rs730881677
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.5(CDKN2A):c.172del (p.Arg58fs)
NM_000077.5(CDKN2A):c.175_212del (p.Val59fs) rs876658511
NM_000077.5(CDKN2A):c.185_196delinsA (p.Leu62fs)
NM_000077.5(CDKN2A):c.188T>C (p.Leu63Pro) rs2131096164
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.19_22dup (p.Ser8fs)
NM_000077.5(CDKN2A):c.212del (p.Asn71fs) rs876658220
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.228del (p.Thr77fs)
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) rs730881675
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.286del (p.Val96fs)
NM_000077.5(CDKN2A):c.299_303dup (p.Ala102fs)
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs) rs1554653976
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.358del (p.Glu120fs) rs1060501263
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter) rs141798398
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.38_68del (p.Ala13fs)
NM_000077.5(CDKN2A):c.41_43delinsCCGTGGCTGGCCACGGCCAC (p.Asp14fs)
NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter) rs876658556
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.45dup (p.Leu16fs) rs1131691188
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000077.5(CDKN2A):c.47_50del (p.Leu16fs) rs587782206
NM_000077.5(CDKN2A):c.47_51dup (p.Thr18fs)
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411
NM_000077.5(CDKN2A):c.95_112del (p.Leu32_Leu37del) rs1819949737
NM_000077.5(CDKN2A):c.97dup (p.Glu33fs)
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.2755_2773del (p.Ser919fs)
NM_000082.4(ERCC8):c.577del (p.Ser193fs)
NM_000083.3(CLCN1):c.122del (p.Gly41fs) rs1802291231
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.1496_1497del (p.Asp499fs) rs1555573789
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp) rs1554396271
NM_000089.4(COL1A2):c.1361G>T (p.Gly454Val) rs797044949
NM_000089.4(COL1A2):c.1557+3A>G rs72658127
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup) rs1554398396
NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)
NM_000089.4(COL1A2):c.432+1G>A rs1554395431
NM_000090.4(COL3A1):c.1056dup (p.Val353fs)
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val) rs1688274077
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.4(COL3A1):c.2097del (p.Pro701fs)
NM_000090.4(COL3A1):c.2114_2121+2del rs1688402212
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2199del (p.Gly735fs)
NM_000090.4(COL3A1):c.2221G>T (p.Gly741Cys) rs587779685
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2392-2A>C rs1553508957
NM_000090.4(COL3A1):c.2642del (p.Pro881fs) rs886038920
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg) rs2153503634
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) rs2153503975
NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu) rs886038925
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.4(COL3A1):c.3689del (p.Asn1230fs)
NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs) rs1553509869
NM_000090.4(COL3A1):c.3982_3986dup (p.Glu1330fs)
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.413dup (p.Gly139fs) rs587779707
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) rs2153501864
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val) rs587779518
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.4(COL3A1):c.997-1G>C rs587779687
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser) rs2072039168
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.3086dup (p.Gly1030fs)
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.502del (p.Glu168fs)
NM_000092.5(COL4A4):c.868A>T (p.Lys290Ter)
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.5(COL5A1):c.2798del (p.Lys933fs)
NM_000093.5(COL5A1):c.2987_2988dup (p.Gly997fs)
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.5(COL5A1):c.3983del (p.Pro1328fs) rs1554805638
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4201G>T (p.Glu1401Ter)
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) rs1131691996
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6724G>C (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.7984-2del rs2043665261
NM_000097.7(CPOX):c.525del (p.Ser177fs)
NM_000097.7(CPOX):c.824G>A (p.Trp275Ter)
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) rs1557191074
NM_000116.5(TAFAZZIN):c.489dup (p.Phe164fs)
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.217dup (p.Met73fs)
NM_000117.3(EMD):c.313del (p.Tyr105fs)
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000123.4(ERCC5):c.1358_1359del (p.Ser453fs) rs1468211891
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.488_494del (p.Thr163fs) rs1554794342
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1379dup (p.Tyr461fs)
NM_000127.3(EXT1):c.1587G>A (p.Trp529Ter) rs763608530
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter) rs2130044984
NM_000135.4(FANCA):c.462T>A (p.Tyr154Ter)
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1173dup (p.Glu392Ter)
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.1233dup (p.Leu412fs)
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter) rs2134548133
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.14C>G (p.Ser5Ter)
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.212T>A (p.Leu71Ter)
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.279C>A (p.Cys93Ter)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.341_342del (p.Ile114fs)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.381del (p.Phe127fs) rs2135588524
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.517dup (p.Arg173fs)
NM_000136.3(FANCC):c.595del (p.Leu199fs) rs1057519366
NM_000136.3(FANCC):c.595dup (p.Leu199fs) rs1057519366
NM_000136.3(FANCC):c.596del (p.Leu199fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) rs1588134571
NM_000136.3(FANCC):c.760del (p.Met254fs)
NM_000136.3(FANCC):c.774del (p.Phe258fs)
NM_000136.3(FANCC):c.836C>A (p.Ser279Ter) rs1588134180
NM_000136.3(FANCC):c.843+1G>T rs587779909
NM_000136.3(FANCC):c.863del (p.Pro288fs) rs2134968283
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.94C>T (p.Gln32Ter)
NM_000136.3(FANCC):c.954del (p.Phe318fs)
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
NM_000138.4(FBN1):c.5067_5073del rs886038823
NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter) rs2043846274
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.111del (p.Arg38fs) rs1555407416
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter) rs794728325
NM_000138.5(FBN1):c.1187del (p.Pro396fs)
NM_000138.5(FBN1):c.1191dup (p.Arg398fs) rs886038972
NM_000138.5(FBN1):c.1211dup (p.Pro405fs) rs112289537
NM_000138.5(FBN1):c.1216del (p.Gly407fs) rs2141331057
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs) rs2043800325
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1328-1G>A
NM_000138.5(FBN1):c.1427dup (p.Cys476fs)
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1495del (p.Cys499fs)
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr) rs1156747241
NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter) rs1555400285
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter) rs531101773
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) rs113902534
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter) rs193922183
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter) rs886038963
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
NM_000138.5(FBN1):c.1839_1840delinsGAAGGT (p.Asp613fs) rs1555399839
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1852dup (p.Glu618fs) rs1555399835
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.5(FBN1):c.1878del (p.Arg627fs)
NM_000138.5(FBN1):c.1891del (p.Thr631fs)
NM_000138.5(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.2091del (p.Gln697fs)
NM_000138.5(FBN1):c.2113+1G>A rs1566913670
NM_000138.5(FBN1):c.2121T>A (p.Tyr707Ter)
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg) rs1555399481
NM_000138.5(FBN1):c.2150_2153delinsGTG (p.Met717fs)
NM_000138.5(FBN1):c.2168-2A>G rs1555399388
NM_000138.5(FBN1):c.2213dup (p.Cys739fs) rs1555399379
NM_000138.5(FBN1):c.2227del (p.Arg743fs) rs886038769
NM_000138.5(FBN1):c.2292del (p.Asp765fs) rs2141306307
NM_000138.5(FBN1):c.2293+1G>A rs1060501092
NM_000138.5(FBN1):c.2408_2412dup (p.Cys805fs)
NM_000138.5(FBN1):c.2416G>T (p.Glu806Ter)
NM_000138.5(FBN1):c.2428G>T (p.Glu810Ter)
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter) rs193921256
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe) rs397515775
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs) rs1555405534
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2665del (p.Leu889fs) rs1555399147
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2725del (p.Glu909fs) rs886038804
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2783del (p.Asn928fs)
NM_000138.5(FBN1):c.2814del (p.Ser939fs) rs1131691766
NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs) rs1555398828
NM_000138.5(FBN1):c.2906del (p.Leu969fs) rs886039154
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
NM_000138.5(FBN1):c.3082+1G>C rs886038996
NM_000138.5(FBN1):c.3159C>A (p.Cys1053Ter) rs886039054
NM_000138.5(FBN1):c.319del (p.Gln106_Ile107insTer)
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3333C>A (p.Cys1111Ter)
NM_000138.5(FBN1):c.3356_3359del (p.Arg1119fs)
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3400G>T (p.Gly1134Ter) rs372404949
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.3669T>A (p.Cys1223Ter) rs886039196
NM_000138.5(FBN1):c.3670C>T (p.Gln1224Ter)
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter) rs1555398283
NM_000138.5(FBN1):c.3815del (p.Ser1272fs) rs1555398272
NM_000138.5(FBN1):c.3821del (p.Asp1274fs)
NM_000138.5(FBN1):c.3838+2T>C
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947del (p.Gly1316fs) rs1555398143
NM_000138.5(FBN1):c.3975del (p.Glu1325fs)
NM_000138.5(FBN1):c.3G>T (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4122C>A (p.Cys1374Ter)
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter) rs886038937
NM_000138.5(FBN1):c.4135_4141del (p.Asp1379fs) rs886038970
NM_000138.5(FBN1):c.4188del (p.Gly1397fs) rs1555397652
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr) rs1555397646
NM_000138.5(FBN1):c.4211-1G>A rs1057523796
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4284_4288dup (p.Glu1430fs)
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.438dup (p.Gln147fs)
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4416_4422delinsGAACTG (p.Cys1472fs)
NM_000138.5(FBN1):c.4471T>A (p.Cys1491Ser)
NM_000138.5(FBN1):c.454del (p.Ser152fs)
NM_000138.5(FBN1):c.4562del (p.Pro1521fs) rs886039035
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4605T>G (p.Tyr1535Ter)
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4704dup (p.Ala1569fs) rs1555397154
NM_000138.5(FBN1):c.4721del (p.Cys1574fs) rs1555397148
NM_000138.5(FBN1):c.4733del (p.Pro1578fs)
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4817-1G>C
NM_000138.5(FBN1):c.4888del (p.Gln1630fs) rs1555397000
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4942+2T>G
NM_000138.5(FBN1):c.4956del (p.Cys1652fs) rs886038979
NM_000138.5(FBN1):c.5014T>C (p.Cys1672Arg)
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser) rs140627
NM_000138.5(FBN1):c.5065+2dup rs1555396835
NM_000138.5(FBN1):c.510C>A (p.Tyr170Ter)
NM_000138.5(FBN1):c.5129T>A (p.Leu1710Ter)
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter) rs886038766
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5288T>A (p.Leu1763Ter)
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5455C>T (p.Gln1819Ter)
NM_000138.5(FBN1):c.5536del (p.Gln1846fs) rs886039167
NM_000138.5(FBN1):c.558T>A (p.Cys186Ter) rs1555401699
NM_000138.5(FBN1):c.5657_5665delinsGC (p.Gln1886fs)
NM_000138.5(FBN1):c.5720del (p.Asn1907fs) rs886038959
NM_000138.5(FBN1):c.5789-2A>G rs886038790
NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser) rs794728241
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.595del (p.Leu199fs)
NM_000138.5(FBN1):c.5988C>A (p.Tyr1996Ter)
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.5(FBN1):c.6053del (p.Val2018fs)
NM_000138.5(FBN1):c.6113G>T (p.Cys2038Phe)
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
NM_000138.5(FBN1):c.6139del (p.Ser2047fs) rs2043116624
NM_000138.5(FBN1):c.6146_6150del (p.Ser2049fs) rs1555395461
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.6268G>T (p.Glu2090Ter) rs1304643689
NM_000138.5(FBN1):c.6304G>T (p.Glu2102Ter)
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter) rs794728247
NM_000138.5(FBN1):c.6331del (p.Cys2111fs)
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6410G>C (p.Cys2137Ser) rs1555395206
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6454G>T (p.Glu2152Ter)
NM_000138.5(FBN1):c.6492T>A (p.Cys2164Ter) rs886038957
NM_000138.5(FBN1):c.6497-2A>G
NM_000138.5(FBN1):c.650G>A (p.Trp217Ter) rs1555401686
NM_000138.5(FBN1):c.6590del (p.Glu2197fs)
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr) rs886039158
NM_000138.5(FBN1):c.6646_6650del (p.Leu2216fs) rs1555394927
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6675del (p.Thr2224_Tyr2225insTer)
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs) rs886044547
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.5(FBN1):c.6733T>C (p.Cys2245Arg)
NM_000138.5(FBN1):c.6740-1G>A rs1555394781
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter) rs1245476075
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter) rs1199524458
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs) rs886038955
NM_000138.5(FBN1):c.7104_7105delinsTT (p.Arg2369Ter)
NM_000138.5(FBN1):c.7120del (p.His2374fs) rs1555394566
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7161del (p.Lys2388fs)
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter) rs878853689
NM_000138.5(FBN1):c.7330+1G>A rs1555394433
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
NM_000138.5(FBN1):c.7412del (p.Pro2471fs) rs1555394396
NM_000138.5(FBN1):c.7472_7475del (p.Thr2491fs)
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7545dup (p.Thr2516fs)
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter) rs1566891808
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val) rs1566891654
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.7741T>A (p.Cys2581Ser)
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000138.5(FBN1):c.7780dup (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter) rs886038975
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter) rs1597512600
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) rs1566890005
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7864T>G (p.Cys2622Gly)
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter) rs2141214889
NM_000138.5(FBN1):c.7939C>T (p.Gln2647Ter) rs886038870
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8051_8051+1delinsT rs1555393823
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)
NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs) rs1555393647
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8405dup (p.Phe2803fs) rs1555393539
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs) rs886039034
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)
NM_000138.5(FBN1):c.88G>T (p.Glu30Ter)
NM_000138.5(FBN1):c.923_926del (p.Val308fs)
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) rs397515867
NM_000138.5(FBN1):c.963del (p.Ser322fs)
NM_000138.5(FBN1):c.969delinsCC (p.Asp324fs)
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) rs121918490
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp) rs387906678
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.3(FH):c.556_557delAG rs1131691235
NM_000143.4(FH):c.1000dup (p.Ser334fs) rs1659853029
NM_000143.4(FH):c.1015_1024delinsT (p.Ala339_Ile342delinsPhe)
NM_000143.4(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.4(FH):c.1052C>A (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.4(FH):c.1058_1108+19del
NM_000143.4(FH):c.1068del (p.Ile357fs)
NM_000143.4(FH):c.1082del (p.Asn361fs) rs1553341012
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1108G>C (p.Gly370Arg) rs1659848371
NM_000143.4(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer) rs781466938
NM_000143.4(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.4(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.1236+1G>C rs1131691249
NM_000143.4(FH):c.1236+2T>G
NM_000143.4(FH):c.1237-2A>G rs2147913407
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.1247del (p.Val416fs) rs2147913368
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1287del (p.Phe430fs) rs1659746788
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.4(FH):c.1298dup (p.Asn433fs) rs1573878071
NM_000143.4(FH):c.129_132+5delinsGAGC
NM_000143.4(FH):c.1327G>T (p.Glu443Ter) rs1553340687
NM_000143.4(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.4(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.4(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer) rs863223990
NM_000143.4(FH):c.134del (p.Ala45fs) rs1131691237
NM_000143.4(FH):c.1364T>A (p.Leu455Ter)
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1391-1G>T
NM_000143.4(FH):c.1391-269A>G rs2147911550
NM_000143.4(FH):c.1391-2A>G rs863224008
NM_000143.4(FH):c.1391-2A>T rs863224008
NM_000143.4(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.4(FH):c.1413dup (p.Ala472fs)
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1482del (p.Glu495fs)
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.4(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.4(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.4(FH):c.175G>T (p.Glu59Ter) rs1573888513
NM_000143.4(FH):c.201T>A (p.Tyr67Ter) rs1558402241
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.204T>G (p.Tyr68Ter)
NM_000143.4(FH):c.211C>T (p.Gln71Ter)
NM_000143.4(FH):c.220A>T (p.Arg74Ter)
NM_000143.4(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.243del (p.Ile81fs) rs1573888356
NM_000143.4(FH):c.267+1G>A rs878853691
NM_000143.4(FH):c.267+1G>C rs878853691
NM_000143.4(FH):c.273dup (p.Val92fs)
NM_000143.4(FH):c.295_301del (p.Leu99fs) rs863224017
NM_000143.4(FH):c.301_319del (p.Arg101fs) rs1558401094
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer) rs876658569
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.379-1G>A rs1553341623
NM_000143.4(FH):c.379-2A>G rs1131691240
NM_000143.4(FH):c.382dup (p.Ala128fs)
NM_000143.4(FH):c.385G>T (p.Glu129Ter)
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) rs863223995
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.423del (p.Trp141fs)
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.431G>C (p.Gly144Ala)
NM_000143.4(FH):c.434C>G (p.Ser145Ter) rs1573885482
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.4(FH):c.551del (p.Ser184fs)
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.555+1_555+9del
NM_000143.4(FH):c.563A>T (p.Asn188Ile) rs2147919711
NM_000143.4(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.4(FH):c.566dup (p.Asp189fs)
NM_000143.4(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.4(FH):c.624del (p.Leu208fs) rs2147919608
NM_000143.4(FH):c.634C>T (p.Gln212Ter) rs1553341353
NM_000143.4(FH):c.663dup (p.Ser222fs) rs1573883195
NM_000143.4(FH):c.683TCA[1] (p.Ile229del)
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.694G>T (p.Gly232Ter)
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.4(FH):c.704A>G (p.His235Arg) rs1659990191
NM_000143.4(FH):c.722_738+3del rs1064792900
NM_000143.4(FH):c.731_738+3delinsAAAT
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738G>A (p.Gln246=)
NM_000143.4(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.4(FH):c.757C>T (p.Gln253Ter) rs1131691239
NM_000143.4(FH):c.763_767del (p.Val255fs)
NM_000143.4(FH):c.771T>G (p.Tyr257Ter)
NM_000143.4(FH):c.780_781del (p.Arg261fs) rs1659924638
NM_000143.4(FH):c.782_783del (p.Arg261fs)
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.797dup (p.Met266fs) rs863223981
NM_000143.4(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.824_827dup (p.Thr277fs) rs1659922131
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.859dup (p.Ile287fs)
NM_000143.4(FH):c.875del (p.Lys292fs)
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.915del (p.Phe305fs)
NM_000143.4(FH):c.919del (p.Thr307fs) rs1553341049
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.999C>A (p.Cys333Ter) rs1553341031
NM_000147.5(FUCA1):c.1164T>G (p.Tyr388Ter)
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.442C>T (p.Gln148Ter)
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.236_237del (p.Arg78_Tyr79insTer)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
NM_000162.5(GCK):c.1077del (p.Ser360fs)
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1253+1G>C
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.445dup (p.Thr149fs)
NM_000162.5(GCK):c.483+1G>A
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.568A>T (p.Lys190Ter)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.579+1G>A
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.656del (p.Gln219fs)
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.814G>T (p.Glu272Ter)
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
NM_000162.5(GCK):c.905del (p.Val302fs)
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
NM_000165.5(GJA1):c.460A>G (p.Thr154Ala)
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.450del (p.Met150fs)
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.2709_2763del (p.Arg905fs) rs1787181000
NM_000168.6(GLI3):c.2773C>T (p.Gln925Ter) rs1787180396
NM_000169.3(GLA):c.1019G>A (p.Trp340Ter) rs730880440
NM_000169.3(GLA):c.1095T>G (p.Tyr365Ter)
NM_000169.3(GLA):c.1210dup (p.Arg404fs)
NM_000169.3(GLA):c.18del (p.Glu7fs) rs2147487830
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.295C>T (p.Gln99Ter) rs868937910
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.402T>A (p.Tyr134Ter)
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.950T>C (p.Ile317Thr) rs869312158
NM_000170.3(GLDC):c.1326T>A (p.Cys442Ter)
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.3(MSH6):c.-1_46del (p.Met1fs)
NM_000179.3(MSH6):c.-1_6delinsACCT (p.Met1_Ser2delinsPro)
NM_000179.3(MSH6):c.1010_1011dup (p.Arg338Ter) rs1572721251
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter) rs1114167804
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter) rs730881815
NM_000179.3(MSH6):c.1033_1034del (p.Asn345fs)
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.103_113del (p.Ala35fs) rs1572698011
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.3(MSH6):c.1045dup (p.Gln349fs)
NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs) rs786202336
NM_000179.3(MSH6):c.1059dup (p.Gly354fs) rs876658728
NM_000179.3(MSH6):c.1061del (p.Gly354fs)
NM_000179.3(MSH6):c.1071_1072insCA (p.Asp358fs)
NM_000179.3(MSH6):c.1081_1085del (p.Arg361fs)
NM_000179.3(MSH6):c.1085_1086del (p.Pro362fs)
NM_000179.3(MSH6):c.1093_1099dup (p.His367fs) rs1572721655
NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter) rs1272484865
NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)
NM_000179.3(MSH6):c.1106del (p.Thr369fs)
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs) rs786204252
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1109T>G (p.Leu370Ter)
NM_000179.3(MSH6):c.1113dup (p.Trp372fs)
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.1136del (p.Arg379fs)
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.3(MSH6):c.114del (p.Ala40fs) rs1558644995
NM_000179.3(MSH6):c.114dup (p.Gly39fs)
NM_000179.3(MSH6):c.1159del (p.Asp387fs) rs1669301838
NM_000179.3(MSH6):c.1162dup (p.His388fs)
NM_000179.3(MSH6):c.1167_1189dup (p.Tyr397fs)
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.1184_1190dup (p.Val398fs) rs1572722017
NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs) rs1572722039
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
NM_000179.3(MSH6):c.1188_1189insGA (p.Tyr397fs) rs1572722080
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs) rs1553412609
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1190_1191dup (p.Val398fs) rs63750439
NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)
NM_000179.3(MSH6):c.119delinsTT (p.Ala40fs)
NM_000179.3(MSH6):c.1200_1201insC (p.Asp401fs)
NM_000179.3(MSH6):c.1233del (p.Lys412fs)
NM_000179.3(MSH6):c.1233dup (p.Lys412fs) rs2104329942
NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)
NM_000179.3(MSH6):c.1235del (p.Lys412fs)
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.1241G>A (p.Trp414Ter) rs587779914
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.1248del (p.Lys417fs)
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter) rs778555956
NM_000179.3(MSH6):c.1249_1252dup (p.Ser418Ter)
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.1257_1258del (p.Asn420fs)
NM_000179.3(MSH6):c.1259del (p.Asn420fs)
NM_000179.3(MSH6):c.1260del (p.Phe421fs)
NM_000179.3(MSH6):c.1263dup (p.Asp422Ter)
NM_000179.3(MSH6):c.1264del (p.Asp422fs)
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
NM_000179.3(MSH6):c.1270dup (p.Val424fs)
NM_000179.3(MSH6):c.1275_1276del (p.Ile425fs) rs1114167774
NM_000179.3(MSH6):c.1276dup (p.Cys426fs)
NM_000179.3(MSH6):c.1279_1282del (p.Tyr427fs)
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter) rs1553412720
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu) rs761822293
NM_000179.3(MSH6):c.1286del (p.Val429fs)
NM_000179.3(MSH6):c.1290del (p.Lys431fs) rs587782809
NM_000179.3(MSH6):c.1291A>T (p.Lys431Ter)
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1298_1299del (p.Phe432_Tyr433insTer)
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.3(MSH6):c.1299del (p.Phe432_Tyr433insTer) rs1553412735
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter) rs761037236
NM_000179.3(MSH6):c.1309dup (p.His437fs) rs1558661308
NM_000179.3(MSH6):c.1315del (p.Asp439fs)
NM_000179.3(MSH6):c.1323_1324insCAAT (p.Ile442fs)
NM_000179.3(MSH6):c.1323dup (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.1336G>T (p.Glu446Ter) rs1669321230
NM_000179.3(MSH6):c.1339dup (p.Leu447fs) rs2104337509
NM_000179.3(MSH6):c.1344del (p.Leu449fs)
NM_000179.3(MSH6):c.1345del (p.Leu449fs)
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.1365_1366del (p.Asn455fs)
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.1369del (p.Ala457fs) rs1572722732
NM_000179.3(MSH6):c.1372dup (p.His458fs)
NM_000179.3(MSH6):c.1377dup (p.Gly460fs)
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.139del (p.Asp47fs)
NM_000179.3(MSH6):c.1406del (p.Tyr469fs)
NM_000179.3(MSH6):c.1406dup (p.Tyr469Ter)
NM_000179.3(MSH6):c.1407T>A (p.Tyr469Ter) rs587781408
NM_000179.3(MSH6):c.1414_1456dup (p.Thr486delinsIleProGlyAlaGluGlyLeuTer)
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.1427_1433del (p.Lys476fs)
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs) rs1114167746
NM_000179.3(MSH6):c.1437_1446del (p.Val480fs) rs2104343962
NM_000179.3(MSH6):c.1437del (p.Lys479_Val480insTer)
NM_000179.3(MSH6):c.1438_1443delinsCG (p.Val480fs) rs1553412851
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs) rs1114167715
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys) rs587782706
NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln) rs587782706
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter) rs587782706
NM_000179.3(MSH6):c.1450del (p.Glu484fs)
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs) rs1114167750
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.1493del (p.Lys498fs)
NM_000179.3(MSH6):c.1498del (p.Ala500fs)
NM_000179.3(MSH6):c.1502_2270del (p.His501fs)
NM_000179.3(MSH6):c.150G>A (p.Trp50Ter)
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.1526del (p.Val509fs)
NM_000179.3(MSH6):c.1528_1529dup (p.Arg511fs)
NM_000179.3(MSH6):c.1533_1534insT (p.Glu512Ter)
NM_000179.3(MSH6):c.1536dup (p.Ile513fs)
NM_000179.3(MSH6):c.1542dup (p.Arg515Ter)
NM_000179.3(MSH6):c.1545del (p.Ile516fs)
NM_000179.3(MSH6):c.1548_1549insT (p.Ile517fs)
NM_000179.3(MSH6):c.1549del (p.Ile517fs)
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter) rs1114167719
NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)
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_1578dup (p.Leu527fs)
NM_000179.3(MSH6):c.1582G>T (p.Glu528Ter)
NM_000179.3(MSH6):c.1582del (p.Glu528fs)
NM_000179.3(MSH6):c.1588dup (p.Asp530fs)
NM_000179.3(MSH6):c.1590del (p.Ser532fs) rs587779216
NM_000179.3(MSH6):c.1593del (p.Ser532fs)
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs) rs1064794388
NM_000179.3(MSH6):c.159_171del (p.Gly56fs)
NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)
NM_000179.3(MSH6):c.1607del (p.Ser536fs)
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter) rs1572723640
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1612del (p.Tyr538fs)
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs) rs1669352196
NM_000179.3(MSH6):c.1614T>G (p.Tyr538Ter) rs63750870
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
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.1630G>T (p.Glu544Ter)
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.1635del (p.Glu546fs)
NM_000179.3(MSH6):c.1636G>T (p.Glu546Ter)
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs) rs267608076
NM_000179.3(MSH6):c.1638_1639delinsA (p.Glu547fs)
NM_000179.3(MSH6):c.1639del (p.Glu547fs) rs1572723786
NM_000179.3(MSH6):c.1645del (p.Ser549fs) rs876661033
NM_000179.3(MSH6):c.1649_1671dup (p.Val558fs)
NM_000179.3(MSH6):c.1649del (p.Ser550fs)
NM_000179.3(MSH6):c.165_174del (p.Gly56fs)
NM_000179.3(MSH6):c.165_178delinsC (p.Gly56fs)
NM_000179.3(MSH6):c.1669_1670del (p.Gly557fs) rs1114167800
NM_000179.3(MSH6):c.166_178del (p.Gly56fs)
NM_000179.3(MSH6):c.1687dup (p.Thr563fs) rs1572724019
NM_000179.3(MSH6):c.168_169del (p.Pro57fs)
NM_000179.3(MSH6):c.1690del (p.Ser564fs)
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.1697del (p.Gly566fs)
NM_000179.3(MSH6):c.1699A>T (p.Lys567Ter)
NM_000179.3(MSH6):c.1699_1703delinsTAC (p.Lys567fs)
NM_000179.3(MSH6):c.1700del (p.Lys567fs)
NM_000179.3(MSH6):c.1700dup (p.Phe568fs) rs1553413074
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.1706dup (p.Ile570fs)
NM_000179.3(MSH6):c.1707del (p.Phe569fs) rs1669364351
NM_000179.3(MSH6):c.170_182del (p.Pro57fs) rs876658296
NM_000179.3(MSH6):c.1712del (p.Gly571fs)
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.171del (p.Arg58fs) rs1553408306
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter) rs1669365820
NM_000179.3(MSH6):c.1729del (p.Arg577fs) rs2104363773
NM_000179.3(MSH6):c.1754_1755delinsCT (p.Leu585Pro)
NM_000179.3(MSH6):c.1754del (p.Leu585fs)
NM_000179.3(MSH6):c.1757_2229dup (p.Glu744delinsTrpHisThrIleProGlnTyrLysPheTyrLeuLysLysGluIleSerGlnArgLysLeuLysGlnPheTer)
NM_000179.3(MSH6):c.1759del (p.Ala587fs)
NM_000179.3(MSH6):c.1766_1767del (p.Tyr589fs)
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.1784del (p.Leu595fs) rs267608050
NM_000179.3(MSH6):c.1788dup (p.Glu597Ter)
NM_000179.3(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) rs756043669
NM_000179.3(MSH6):c.179T>A (p.Leu60Ter)
NM_000179.3(MSH6):c.1802del (p.Leu601fs)
NM_000179.3(MSH6):c.1804_1805del (p.Ser602fs) rs1114167766
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.1808dup (p.Glu604fs) rs1553413200
NM_000179.3(MSH6):c.1809_1813del (p.Lys603fs)
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
NM_000179.3(MSH6):c.1812_1814delinsTAAAGAAT (p.Glu604fs)
NM_000179.3(MSH6):c.1813del (p.Thr605fs)
NM_000179.3(MSH6):c.1813dup (p.Thr605fs)
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.1815dup (p.Lys606Ter)
NM_000179.3(MSH6):c.1819_1822del (p.Thr607fs) rs1114167770
NM_000179.3(MSH6):c.1819del (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.1819dup (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.1820del (p.Thr607fs)
NM_000179.3(MSH6):c.1821_1899del (p.Thr607_Ile608insTer)
NM_000179.3(MSH6):c.1828A>T (p.Lys610Ter)
NM_000179.3(MSH6):c.1828_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.1845T>A (p.Cys615Ter)
NM_000179.3(MSH6):c.1849_1850dup (p.Gln618fs)
NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)
NM_000179.3(MSH6):c.185_186del (p.Arg62fs)
NM_000179.3(MSH6):c.1862dup (p.Ile622fs) rs1572724689
NM_000179.3(MSH6):c.1866_1869dup (p.Gly624fs) rs2104372607
NM_000179.3(MSH6):c.1869del (p.Gly624fs) rs71539659
NM_000179.3(MSH6):c.1871del (p.Gly624fs) rs777159874
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter) rs1553413253
NM_000179.3(MSH6):c.1882dup (p.Trp628fs)
NM_000179.3(MSH6):c.1897del (p.Thr633fs)
NM_000179.3(MSH6):c.1898del (p.Thr633fs) rs876658604
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.1901del (p.Thr633_Leu634insTer)
NM_000179.3(MSH6):c.1901dup (p.Leu634fs) rs587782638
NM_000179.3(MSH6):c.1907_1923dup (p.Tyr642fs)
NM_000179.3(MSH6):c.1912del (p.Glu639fs) rs1553413294
NM_000179.3(MSH6):c.1914del (p.Glu639fs)
NM_000179.3(MSH6):c.1918G>T (p.Glu640Ter) rs1669393906
NM_000179.3(MSH6):c.1920del (p.Glu641fs)
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter) rs1553413305
NM_000179.3(MSH6):c.1923del (p.Glu641fs) rs869040863
NM_000179.3(MSH6):c.1926T>A (p.Tyr642Ter)
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.1937del (p.Lys646fs) rs1114167747
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs) rs2104377567
NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)
NM_000179.3(MSH6):c.1957dup (p.Val653fs)
NM_000179.3(MSH6):c.1960_1961del (p.Met654fs)
NM_000179.3(MSH6):c.1962_1963dup (p.Leu655fs)
NM_000179.3(MSH6):c.1964T>A (p.Leu655Ter)
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.3(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.3(MSH6):c.1977dup (p.Lys660Ter)
NM_000179.3(MSH6):c.1979_1980delinsG (p.Lys660fs)
NM_000179.3(MSH6):c.1979_1982del (p.Lys660fs)
NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer) rs1553413348
NM_000179.3(MSH6):c.1990dup (p.Ser664fs)
NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter) rs1553413355
NM_000179.3(MSH6):c.1991C>G (p.Ser664Ter) rs1553413355
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.1997_1998del (p.Glu665_Ser666insTer) rs1572725235
NM_000179.3(MSH6):c.1A>G (p.Met1Val) rs2103930478
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer) rs1060502918
NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs) rs1558663954
NM_000179.3(MSH6):c.2023G>T (p.Glu675Ter)
NM_000179.3(MSH6):c.2023_2027del (p.Glu675fs)
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.3(MSH6):c.2028_2034del (p.Lys676fs)
NM_000179.3(MSH6):c.202A>T (p.Lys68Ter)
NM_000179.3(MSH6):c.2036_2042delinsGG (p.Leu679fs) rs876658864
NM_000179.3(MSH6):c.2041del (p.Leu681fs) rs1572725436
NM_000179.3(MSH6):c.2042del (p.Leu681fs) rs1572725461
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs) rs267608057
NM_000179.3(MSH6):c.2045_2046dup (p.Ala683fs)
NM_000179.3(MSH6):c.2045del (p.Ser682fs)
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.3(MSH6):c.2059dup (p.Cys687fs)
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.2064del (p.Phe689fs)
NM_000179.3(MSH6):c.2070C>A (p.Tyr690Ter) rs559125434
NM_000179.3(MSH6):c.2072_2073delinsATTA (p.Leu691fs) rs876660386
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000179.3(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.3(MSH6):c.2081del (p.Cys694fs)
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs) rs1114167733
NM_000179.3(MSH6):c.2089del (p.Asp697fs) rs863224475
NM_000179.3(MSH6):c.2092del (p.Gln698fs) rs1669419578
NM_000179.3(MSH6):c.2092dup (p.Gln698fs) rs1114167740
NM_000179.3(MSH6):c.2102dup (p.Leu701fs) rs2104388702
NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter)
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.3(MSH6):c.2119G>T (p.Glu707Ter)
NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter) rs1064795960
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.3(MSH6):c.2125dup (p.Tyr709fs) rs587781650
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.3(MSH6):c.2131_2135del (p.Pro711fs)
NM_000179.3(MSH6):c.2139_2140del (p.Asp713_Ser714insTer)
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.2161A>T (p.Arg721Ter) rs537604099
NM_000179.3(MSH6):c.2165_2169del (p.Ser722fs) rs1114167786
NM_000179.3(MSH6):c.2165dup (p.Gly723fs)
NM_000179.3(MSH6):c.2175_2188del (p.Phe726fs)
NM_000179.3(MSH6):c.2175dup (p.Phe726fs)
NM_000179.3(MSH6):c.2187del (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.2194del (p.Arg732fs)
NM_000179.3(MSH6):c.2197del (p.Met733fs)
NM_000179.3(MSH6):c.2204_2210del (p.Leu735fs) rs1572726178
NM_000179.3(MSH6):c.2212_2222del (p.Val738fs) rs876658848
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter) rs745483465
NM_000179.3(MSH6):c.2222_2252del (p.Asn741fs)
NM_000179.3(MSH6):c.2228_2229insAT (p.Glu744fs)
NM_000179.3(MSH6):c.2228dup (p.Leu743fs) rs1114167761
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.2269_2270del (p.Thr757fs) rs876661025
NM_000179.3(MSH6):c.2275del (p.Leu758_Leu759insTer)
NM_000179.3(MSH6):c.2278_2296del (p.Glu760fs)
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs) rs1114167721
NM_000179.3(MSH6):c.2284dup (p.Val762fs)
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
NM_000179.3(MSH6):c.2290_2291insAGTA (p.Thr764fs)
NM_000179.3(MSH6):c.2290dup (p.Thr764fs) rs1553413663
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter) rs63750985
NM_000179.3(MSH6):c.2296dup (p.His766fs) rs1114167712
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2302_2304del (p.Pro768del) rs63750647
NM_000179.3(MSH6):c.2304_2326del (p.Phe769fs)
NM_000179.3(MSH6):c.2307del (p.Phe769fs)
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs) rs864622585
NM_000179.3(MSH6):c.2313_2319del (p.Lys771fs)
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2324dup (p.Gln776fs)
NM_000179.3(MSH6):c.2327_2336del (p.Gln776fs)
NM_000179.3(MSH6):c.2328del (p.Gln776fs)
NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter) rs876660037
NM_000179.3(MSH6):c.2335dup (p.Cys779fs) rs2104401401
NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter) rs1553413707
NM_000179.3(MSH6):c.2342dup (p.Leu782fs)
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs) rs1553413717
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer) rs876661193
NM_000179.3(MSH6):c.2358T>A (p.Tyr786Ter)
NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)
NM_000179.3(MSH6):c.236_239del (p.Arg78_Ser79insTer)
NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter) rs1558665297
NM_000179.3(MSH6):c.2392dup (p.Leu798fs)
NM_000179.3(MSH6):c.2418del (p.Glu807fs)
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.2419dup (p.Glu807fs) rs1553413784
NM_000179.3(MSH6):c.2425_2449del (p.Val809fs)
NM_000179.3(MSH6):c.2429del (p.Glu810fs) rs1572727176
NM_000179.3(MSH6):c.2430_2440del (p.Leu811fs) rs1572727163
NM_000179.3(MSH6):c.2437A>T (p.Lys813Ter)
NM_000179.3(MSH6):c.2463dup (p.Leu822fs)
NM_000179.3(MSH6):c.246dup (p.Ala83fs) rs1668136752
NM_000179.3(MSH6):c.2473del (p.Ile825fs) rs1669467747
NM_000179.3(MSH6):c.2473dup (p.Ile825fs)
NM_000179.3(MSH6):c.2475_2478del (p.His826fs)
NM_000179.3(MSH6):c.2481del (p.Asn827fs)
NM_000179.3(MSH6):c.2494del (p.Pro831_Leu832insTer) rs1553413844
NM_000179.3(MSH6):c.2502_2524dup (p.Ala842fs)
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.3(MSH6):c.2510_2511del (p.His837fs)
NM_000179.3(MSH6):c.2521del (p.Arg841fs) rs1114167771
NM_000179.3(MSH6):c.2527dup (p.Ile843fs)
NM_000179.3(MSH6):c.2528_2529del (p.Ile843fs)
NM_000179.3(MSH6):c.2530_2534del (p.Ile843_Met844insTer)
NM_000179.3(MSH6):c.2535T>A (p.Tyr845Ter)
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2539G>T (p.Glu847Ter)
NM_000179.3(MSH6):c.2546_2547del (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.2550_2551del (p.Tyr850_Ser851delinsTer) rs1553413897
NM_000179.3(MSH6):c.255dup (p.Thr86fs) rs1064793183
NM_000179.3(MSH6):c.2565_2568del (p.Ile855fs)
NM_000179.3(MSH6):c.2565del (p.Ile856fs)
NM_000179.3(MSH6):c.2566del (p.Ile856fs)
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.3(MSH6):c.2569del (p.Asp857fs)
NM_000179.3(MSH6):c.2574del (p.Leu859fs) rs1669483230
NM_000179.3(MSH6):c.2574dup (p.Leu859fs) rs1669483230
NM_000179.3(MSH6):c.2580del (p.Ala861fs)
NM_000179.3(MSH6):c.2587del (p.Glu863fs)
NM_000179.3(MSH6):c.2590G>T (p.Gly864Ter)
NM_000179.3(MSH6):c.2598_2602del (p.Lys866fs)
NM_000179.3(MSH6):c.2600del (p.Val867fs)
NM_000179.3(MSH6):c.2602dup (p.Met868fs) rs1572727797
NM_000179.3(MSH6):c.2603_2609del (p.Met868fs)
NM_000179.3(MSH6):c.2603del (p.Met868fs) rs1669486855
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs) rs63750357
NM_000179.3(MSH6):c.2613del (p.Ile871_Ile872insTer)
NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs) rs1114167749
NM_000179.3(MSH6):c.2619del (p.Ile874fs)
NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)
NM_000179.3(MSH6):c.262_271del (p.Cys88fs)
NM_000179.3(MSH6):c.263dup (p.Cys88fs)
NM_000179.3(MSH6):c.2642del (p.Gly881fs)
NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer) rs876660630
NM_000179.3(MSH6):c.2646del (p.Phe882fs)
NM_000179.3(MSH6):c.264_265del (p.Cys88_Asp89delinsTer)
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.3(MSH6):c.2656_2668delinsTCTAAA (p.Ile886fs) rs1114167703
NM_000179.3(MSH6):c.2656del (p.Ile886fs)
NM_000179.3(MSH6):c.2662A>T (p.Lys888Ter) rs1572728039
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter) rs1558666177
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.2690del (p.Asn897fs)
NM_000179.3(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.3(MSH6):c.2697_2698insT (p.Gly900fs)
NM_000179.3(MSH6):c.2706del (p.Pro903fs)
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs) rs63750904
NM_000179.3(MSH6):c.2719del (p.Thr906_Val907insTer) rs1669502158
NM_000179.3(MSH6):c.2722G>T (p.Glu908Ter) rs886056144
NM_000179.3(MSH6):c.2731del (p.Arg911fs)
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_2742dup (p.Ala915fs)
NM_000179.3(MSH6):c.2739dup (p.Thr914fs)
NM_000179.3(MSH6):c.2745del (p.Phe916fs)
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.2768del (p.Lys923fs)
NM_000179.3(MSH6):c.2768dup (p.Thr924fs) rs267608063
NM_000179.3(MSH6):c.276del (p.Gly93fs)
NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs) rs1553414131
NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)
NM_000179.3(MSH6):c.2779del (p.Ile927fs)
NM_000179.3(MSH6):c.2780_2793del (p.Ile927fs)
NM_000179.3(MSH6):c.2781_2782dup (p.Thr928fs)
NM_000179.3(MSH6):c.2790dup (p.Ala931fs)
NM_000179.3(MSH6):c.2800dup (p.Asp934fs)
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.2805_2806insTT (p.Asp936fs) rs876659189
NM_000179.3(MSH6):c.2805_2807delinsCC (p.Asp936fs)
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter) rs876659189
NM_000179.3(MSH6):c.2806_2809del (p.Asp936fs)
NM_000179.3(MSH6):c.2811T>G (p.Tyr937Ter) rs1572728785
NM_000179.3(MSH6):c.2812_2814delinsTAA (p.Asp938Ter)
NM_000179.3(MSH6):c.2812del (p.Asp938fs) rs1114167757
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter) rs63750140
NM_000179.3(MSH6):c.2815del (p.Gln939fs)
NM_000179.3(MSH6):c.2829_2835dup (p.Glu946fs)
NM_000179.3(MSH6):c.2831_2832del (p.Ile944fs)
NM_000179.3(MSH6):c.2831_2835del (p.Ile944fs)
NM_000179.3(MSH6):c.2831del (p.Ile944fs)
NM_000179.3(MSH6):c.2831dup (p.Arg945fs)
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.2836G>T (p.Glu946Ter) rs1558666905
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs)
NM_000179.3(MSH6):c.2836del (p.Glu946fs)
NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter) rs1572728898
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.2857del (p.Glu953fs)
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.2873_2874del (p.Gln958fs) rs1553414239
NM_000179.3(MSH6):c.2877dup (p.Asn960fs)
NM_000179.3(MSH6):c.2879del (p.Asn960fs)
NM_000179.3(MSH6):c.2879dup (p.Asn960fs)
NM_000179.3(MSH6):c.2892dup (p.Arg965Ter)
NM_000179.3(MSH6):c.2902dup (p.Val968fs) rs1572729161
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.3(MSH6):c.2913del (p.Ile972fs) rs1054003194
NM_000179.3(MSH6):c.2916dup (p.Gly973fs)
NM_000179.3(MSH6):c.291G>A (p.Trp97Ter)
NM_000179.3(MSH6):c.2930_2936del (p.Tyr977fs)
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.2933del (p.Gln978fs)
NM_000179.3(MSH6):c.2940_2941dup (p.Ile981fs)
NM_000179.3(MSH6):c.2943del (p.Pro982fs)
NM_000179.3(MSH6):c.2943dup (p.Pro982fs) rs2104432135
NM_000179.3(MSH6):c.2945del (p.Pro982fs) rs587779250
NM_000179.3(MSH6):c.2964dup (p.Asn989fs) rs587781659
NM_000179.3(MSH6):c.2965_2966insG (p.Asn989fs)
NM_000179.3(MSH6):c.2969T>A (p.Leu990Ter) rs1669533825
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter) rs774755404
NM_000179.3(MSH6):c.2977G>T (p.Glu993Ter)
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.2989A>T (p.Lys997Ter) rs1064794943
NM_000179.3(MSH6):c.2991del (p.Lys997fs) rs1060502890
NM_000179.3(MSH6):c.2999del (p.Lys1000fs)
NM_000179.3(MSH6):c.3002del (p.Lys1001fs)
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.301del (p.Glu101fs)
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
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.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)
NM_000179.3(MSH6):c.3044del (p.Leu1015fs)
NM_000179.3(MSH6):c.3050del (p.Asn1017fs)
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs) rs63751407
NM_000179.3(MSH6):c.3056_3057del (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.3078dup (p.Val1027fs) rs1572730002
NM_000179.3(MSH6):c.3079dup (p.Val1027fs)
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs) rs1572730021
NM_000179.3(MSH6):c.3083C>A (p.Ser1028Ter) rs876660853
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.3089_3092del (p.Lys1030fs) rs1553414488
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.3114T>G (p.Tyr1038Ter)
NM_000179.3(MSH6):c.3114_3115del (p.Tyr1038_Asn1039delinsTer)
NM_000179.3(MSH6):c.3114_3115dup (p.Asn1039fs)
NM_000179.3(MSH6):c.3114del (p.Phe1037_Tyr1038insTer) rs1114167751
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3119_3133delinsAT (p.Phe1040fs) rs1114167781
NM_000179.3(MSH6):c.3124A>T (p.Lys1042Ter) rs1572730270
NM_000179.3(MSH6):c.3128del (p.Asn1043fs)
NM_000179.3(MSH6):c.3128delinsCC (p.Asn1043fs)
NM_000179.3(MSH6):c.3128dup (p.Asn1043fs)
NM_000179.3(MSH6):c.3129_3130insA (p.Tyr1044fs)
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter) rs1669552731
NM_000179.3(MSH6):c.3134del (p.Lys1045fs)
NM_000179.3(MSH6):c.3139del (p.Trp1047fs) rs1114167782
NM_000179.3(MSH6):c.313del (p.Trp105fs) rs1572708636
NM_000179.3(MSH6):c.3140G>A (p.Trp1047Ter) rs1064794302
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.3151_3152dup (p.Val1051_Glu1052insTer) rs1175196087
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs) rs2104443138
NM_000179.3(MSH6):c.3159_3160insCT (p.Ile1054fs)
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs) rs1553414578
NM_000179.3(MSH6):c.315G>A (p.Trp105Ter) rs1060502902
NM_000179.3(MSH6):c.315del (p.Trp105fs)
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.3(MSH6):c.3168_3172+2del
NM_000179.3(MSH6):c.3172+1G>A rs587779255
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3172+2del
NM_000179.3(MSH6):c.3173-14_3173-3del rs1553331228
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3173-1G>T
NM_000179.3(MSH6):c.3173-2A>G
NM_000179.3(MSH6):c.3177_3184del (p.Leu1060fs)
NM_000179.3(MSH6):c.3179del (p.Leu1060fs)
NM_000179.3(MSH6):c.3180dup (p.Leu1061fs)
NM_000179.3(MSH6):c.318G>A (p.Trp106Ter) rs1572708652
NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs) rs2104472237
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_3229dup (p.Pro1077fs)
NM_000179.3(MSH6):c.3208_3209dup (p.Asp1071fs) rs1315445200
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.3217_3241del (p.Pro1073fs)
NM_000179.3(MSH6):c.3218del (p.Pro1073fs)
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.3(MSH6):c.3224_3225del (p.Cys1075fs)
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3242del (p.Leu1081fs) rs1572735157
NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter) rs763844573
NM_000179.3(MSH6):c.3247_3248del (p.Glu1083fs)
NM_000179.3(MSH6):c.3252dup (p.Thr1085fs) rs1553331366
NM_000179.3(MSH6):c.3253_3254insT (p.Thr1085fs) rs1572735220
NM_000179.3(MSH6):c.3253del (p.Thr1085fs) rs1060502891
NM_000179.3(MSH6):c.3253delinsTC (p.Thr1085fs) rs1114167705
NM_000179.3(MSH6):c.3253dup (p.Thr1085fs) rs1114167705
NM_000179.3(MSH6):c.3254_3255delinsA (p.Thr1085fs) rs1553331378
NM_000179.3(MSH6):c.3254_3255delinsT (p.Thr1085fs) rs1553331378
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.3261_3305delinsTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACT (p.Phe1088_Thr1102delinsSerTer)
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.3263dup (p.Glu1090fs) rs267608091
NM_000179.3(MSH6):c.3264del (p.Phe1088_Leu1089insTer)
NM_000179.3(MSH6):c.3265_3306delinsCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGAC (p.Glu1090_Thr1102delinsLeuArgAlaTer)
NM_000179.3(MSH6):c.3267_3268insC (p.Glu1090fs) rs786203712
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.3(MSH6):c.3274_3277dup (p.Gly1093fs)
NM_000179.3(MSH6):c.3276_3281delinsGAAGCTCTAAGA (p.Gly1093_Ser1094delinsLysLeuTer)
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)
NM_000179.3(MSH6):c.3278del (p.Gly1093fs)
NM_000179.3(MSH6):c.3281C>A (p.Ser1094Ter)
NM_000179.3(MSH6):c.3282_3285dup (p.His1096fs)
NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)
NM_000179.3(MSH6):c.3297dup (p.Thr1100fs)
NM_000179.3(MSH6):c.3299_3300del (p.Thr1100fs)
NM_000179.3(MSH6):c.3302_3353dup (p.Glu1118_Glu1119insAspPhePheTrpArgTer)
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.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter) rs786202772
NM_000179.3(MSH6):c.333_334dup (p.Asn112fs)
NM_000179.3(MSH6):c.3352G>T (p.Glu1118Ter)
NM_000179.3(MSH6):c.3355del (p.Glu1119fs)
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.3364C>T (p.Gln1122Ter)
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
NM_000179.3(MSH6):c.336_337dup (p.His113fs)
NM_000179.3(MSH6):c.3377_3378del (p.Lys1126fs) rs1553331665
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3384T>G (p.Tyr1128Ter)
NM_000179.3(MSH6):c.3389_3390del (p.Val1130fs)
NM_000179.3(MSH6):c.3404_3410del (p.Pro1135fs)
NM_000179.3(MSH6):c.3410del (p.Met1137fs)
NM_000179.3(MSH6):c.3415_3416delinsT (p.Gly1139fs)
NM_000179.3(MSH6):c.3416del (p.Gly1139fs) rs587781544
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.3(MSH6):c.3417del (p.Lys1140fs) rs1572736122
NM_000179.3(MSH6):c.3419dup (p.Ser1141fs) rs1572736128
NM_000179.3(MSH6):c.342del (p.Phe115fs)
NM_000179.3(MSH6):c.3434_3435del (p.Arg1145fs)
NM_000179.3(MSH6):c.3435del (p.Arg1145fs) rs863224476
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.3(MSH6):c.3437A>C (p.Gln1146Pro) rs587779262
NM_000179.3(MSH6):c.3438+1G>A rs267608096
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.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs) rs2104504931
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.3(MSH6):c.3472_3479del (p.Cys1158fs)
NM_000179.3(MSH6):c.3473_3476delinsCT (p.Cys1158fs)
NM_000179.3(MSH6):c.3475del (p.Tyr1159fs) rs1572738533
NM_000179.3(MSH6):c.3475dup (p.Tyr1159fs)
NM_000179.3(MSH6):c.3476del (p.Tyr1159fs)
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.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3486dup (p.Glu1163Ter)
NM_000179.3(MSH6):c.3487_3488insT (p.Glu1163fs)
NM_000179.3(MSH6):c.3487del (p.Glu1163fs)
NM_000179.3(MSH6):c.3489del (p.Val1164fs)
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3495del (p.Val1164_Cys1165insTer)
NM_000179.3(MSH6):c.3496_3497dup (p.Leu1167fs)
NM_000179.3(MSH6):c.3499_3503dup (p.Pro1169fs)
NM_000179.3(MSH6):c.349G>T (p.Gly117Ter)
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.3511_3512del (p.Ile1170_Asp1171insTer) rs63751410
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3513_3514dup (p.Arg1172fs)
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer) rs1324100572
NM_000179.3(MSH6):c.3514_3540inv (p.Arg1172_Ser1180delinsTer)
NM_000179.3(MSH6):c.3515_3516insTGTTTACTAGACAG (p.Arg1172delinsSerValTyrTer)
NM_000179.3(MSH6):c.3515dup (p.Val1173fs)
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs) rs267608099
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.3525del (p.Arg1176fs)
NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter) rs786203968
NM_000179.3(MSH6):c.3526_3538del (p.Arg1176fs)
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3528_3535del (p.Arg1176fs)
NM_000179.3(MSH6):c.3531_3538del (p.Gly1178fs) rs2104509127
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter) rs766905993
NM_000179.3(MSH6):c.3540dup (p.Asp1181fs)
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs) rs1553332297
NM_000179.3(MSH6):c.3544A>T (p.Arg1182Ter)
NM_000179.3(MSH6):c.3545_3546del (p.Arg1182fs)
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter) rs1572739043
NM_000179.3(MSH6):c.3556+1G>A rs1060502926
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.3556+2T>G
NM_000179.3(MSH6):c.3557-1G>C rs1114167723
NM_000179.3(MSH6):c.3557-6_3567delinsAAGGTGAAAGTACAT
NM_000179.3(MSH6):c.3559del (p.Glu1187fs)
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.3562del (p.Ser1188fs) rs1553332622
NM_000179.3(MSH6):c.3562dup (p.Ser1188fs)
NM_000179.3(MSH6):c.3567dup (p.Phe1190fs)
NM_000179.3(MSH6):c.356dup (p.Ile120fs) rs1114167776
NM_000179.3(MSH6):c.3572_3573dup (p.Val1192fs)
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3574del (p.Val1192fs) rs1553332671
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.3581T>G (p.Leu1194Ter)
NM_000179.3(MSH6):c.3589del (p.Thr1197fs)
NM_000179.3(MSH6):c.3600_3601del (p.Leu1201fs)
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
NM_000179.3(MSH6):c.3611del (p.Ala1204fs) rs2104524766
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.3625_3626del (p.Leu1209fs)
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.3(MSH6):c.3637del (p.Asp1213fs)
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
NM_000179.3(MSH6):c.3642del (p.Glu1214fs)
NM_000179.3(MSH6):c.3646+1_3646+30delinsTCTC
NM_000179.3(MSH6):c.3646+2_3646+3insCT rs1269788253
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3647-1G>C rs587779279
NM_000179.3(MSH6):c.3647-6_3647-1del rs267608112
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs) rs1670039388
NM_000179.3(MSH6):c.3674_3690del (p.Thr1225fs)
NM_000179.3(MSH6):c.3683dup (p.Asn1229fs)
NM_000179.3(MSH6):c.3693_3694insTAA (p.Val1232Ter)
NM_000179.3(MSH6):c.3694_3695dup (p.Lys1233fs)
NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter) rs1553333017
NM_000179.3(MSH6):c.3697A>T (p.Lys1233Ter)
NM_000179.3(MSH6):c.3697_3698insGA (p.Lys1233fs)
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs) rs193922343
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.3699_3705dup (p.Ala1236fs) rs1553333031
NM_000179.3(MSH6):c.3699del (p.Glu1234fs) rs1558392033
NM_000179.3(MSH6):c.3699dup (p.Glu1234fs) rs1558392033
NM_000179.3(MSH6):c.3700G>T (p.Glu1234Ter) rs35717727
NM_000179.3(MSH6):c.3701_3704dup (p.Ala1236fs)
NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)
NM_000179.3(MSH6):c.3709G>T (p.Glu1237Ter)
NM_000179.3(MSH6):c.3709_3710insC (p.Glu1237fs)
NM_000179.3(MSH6):c.3711_3712del (p.Glu1237fs) rs2104540758
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3716dup (p.Cys1241fs) rs1114167706
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter) rs878853736
NM_000179.3(MSH6):c.3717_3733del (p.Lys1240fs)
NM_000179.3(MSH6):c.3718A>T (p.Lys1240Ter)
NM_000179.3(MSH6):c.3719_3720insT (p.Lys1240fs)
NM_000179.3(MSH6):c.3720del (p.Lys1240fs)
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs) rs2104541388
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs) rs587779288
NM_000179.3(MSH6):c.372del (p.Lys125fs)
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs) rs1670054668
NM_000179.3(MSH6):c.3737C>A (p.Ser1246Ter)
NM_000179.3(MSH6):c.3737C>G (p.Ser1246Ter)
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs) rs1558392265
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3745_3748del (p.Tyr1249fs)
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs) rs587779936
NM_000179.3(MSH6):c.3747C>G (p.Tyr1249Ter)
NM_000179.3(MSH6):c.3752_3755del (p.His1250_Ser1251insTer)
NM_000179.3(MSH6):c.3752_3758delinsTG (p.Ser1251fs)
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3759_3777del (p.Glu1254fs)
NM_000179.3(MSH6):c.3760_3761del (p.Glu1254fs)
NM_000179.3(MSH6):c.3761_3764dup (p.Asp1255fs) rs1572745084
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.3789_3790insTAGC (p.Leu1264Ter) rs1114167717
NM_000179.3(MSH6):c.3792del (p.Gly1265fs) rs1553333164
NM_000179.3(MSH6):c.3792dup (p.Gly1265fs)
NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter) rs754469538
NM_000179.3(MSH6):c.3794del (p.Gly1265fs)
NM_000179.3(MSH6):c.3794dup (p.His1266fs) rs1572745322
NM_000179.3(MSH6):c.3797del (p.His1266fs) rs1572745360
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3801+1_3801+5del rs1553333175
NM_000179.3(MSH6):c.3802-1G>C rs1572746025
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.3(MSH6):c.3806_3818del (p.Cys1269fs) rs1670089838
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.3(MSH6):c.3816_3819dup (p.Glu1274delinsLysTer)
NM_000179.3(MSH6):c.3816_3840dup (p.Glu1281delinsLysTer) rs1572746192
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter) rs587779294
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs) rs1553333346
NM_000179.3(MSH6):c.3824_3831del (p.Cys1275fs)
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.3834del (p.Ser1279fs)
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.3846_3849dup (p.Thr1284fs) rs1114167783
NM_000179.3(MSH6):c.3846dup (p.Ile1283fs) rs866771359
NM_000179.3(MSH6):c.3847_3848del (p.Ile1283fs)
NM_000179.3(MSH6):c.3847_3848dup (p.Thr1284fs)
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3847_3851delinsTA (p.Ile1283_Thr1284delinsTer) rs1572746634
NM_000179.3(MSH6):c.3849_3851delinsAA (p.Thr1284fs)
NM_000179.3(MSH6):c.3849_3851delinsAGGAACGTAA (p.Thr1284delinsGlyThrTer)
NM_000179.3(MSH6):c.3849del (p.Thr1284fs) rs1064793781
NM_000179.3(MSH6):c.3850_3853dup (p.Phe1285fs)
NM_000179.3(MSH6):c.3850_3857dup (p.Tyr1287fs) rs1553333432
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3851_3872dup (p.Lys1291delinsAsnValProLeuTer) rs1553333435
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter) rs1060504739
NM_000179.3(MSH6):c.3861_3862del (p.Tyr1287_Lys1288delinsTer)
NM_000179.3(MSH6):c.3862_3864delinsTACG (p.Lys1288fs)
NM_000179.3(MSH6):c.3864del (p.Lys1288fs)
NM_000179.3(MSH6):c.3866_3870dup (p.Lys1291fs)
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
NM_000179.3(MSH6):c.3881del (p.Cys1294fs)
NM_000179.3(MSH6):c.3881dup (p.Cys1294fs)
NM_000179.3(MSH6):c.3882del (p.Pro1295fs) rs876658817
NM_000179.3(MSH6):c.3891_3928dup (p.Glu1310fs) rs1572746998
NM_000179.3(MSH6):c.3893dup (p.Tyr1298Ter) rs1553333530
NM_000179.3(MSH6):c.3896_3917dup (p.Ala1306_Asn1307insLeuTer) rs1553333540
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.3902dup (p.Asn1301fs)
NM_000179.3(MSH6):c.3903_3909dup (p.Arg1304fs)
NM_000179.3(MSH6):c.3916_3973dup (p.Lys1325delinsSerTer) rs2104560664
NM_000179.3(MSH6):c.3920del (p.Asn1307fs) rs1114167760
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)
NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer) rs1553333615
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs) rs878853742
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)
NM_000179.3(MSH6):c.3931del (p.Glu1311fs) rs1558394093
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.3935_3954dup (p.Lys1319fs) rs1553333644
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.3946G>A (p.Gly1316Arg) rs773675555
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.394C>T (p.Gln132Ter) rs587782101
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.3952A>T (p.Arg1318Ter) rs1572747685
NM_000179.3(MSH6):c.3955_3980del (p.Lys1319fs) rs876660118
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3957del (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
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.3968_3969del (p.Glu1322_Phe1323insTer)
NM_000179.3(MSH6):c.3969_3982dup (p.Gln1328delinsLeuArgArgTer)
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.3983dup (p.Ser1329fs)
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.3999dup (p.Arg1334fs) rs863225418
NM_000179.3(MSH6):c.3G>C (p.Met1Ile) rs876660095
NM_000179.3(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.3(MSH6):c.3del (p.Met1fs) rs1553408068
NM_000179.3(MSH6):c.4001+1G>A rs1114167729
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.3(MSH6):c.402del (p.Phe134fs)
NM_000179.3(MSH6):c.402dup (p.Asp135Ter) rs1057524912
NM_000179.3(MSH6):c.404_405del (p.Asp135fs)
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.427dup (p.Val143fs) rs2104110751
NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)
NM_000179.3(MSH6):c.440_444delinsC (p.Leu147fs)
NM_000179.3(MSH6):c.442_443del (p.Leu148fs) rs1060502875
NM_000179.3(MSH6):c.443dup (p.Leu148fs) rs1060502875
NM_000179.3(MSH6):c.450_452delinsTTAT (p.Thr152fs)
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser) rs1060502885
NM_000179.3(MSH6):c.458-1G>A rs267608035
NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter) rs1553411391
NM_000179.3(MSH6):c.466del (p.Ser156fs)
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.472del (p.Glu158fs)
NM_000179.3(MSH6):c.472dup (p.Glu158fs)
NM_000179.3(MSH6):c.478C>T (p.Gln160Ter) rs1114167692
NM_000179.3(MSH6):c.484G>T (p.Gly162Ter)
NM_000179.3(MSH6):c.485del (p.Gly162fs) rs2104229850
NM_000179.3(MSH6):c.486_487del (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.510dup (p.Glu171Ter)
NM_000179.3(MSH6):c.518del (p.Leu173fs)
NM_000179.3(MSH6):c.522_523del (p.Arg174fs) rs267608037
NM_000179.3(MSH6):c.524del (p.Ala175fs) rs1669058948
NM_000179.3(MSH6):c.529C>T (p.Gln177Ter) rs2104233399
NM_000179.3(MSH6):c.538del (p.Asp180fs)
NM_000179.3(MSH6):c.541G>T (p.Glu181Ter)
NM_000179.3(MSH6):c.551_566del (p.Asn184fs)
NM_000179.3(MSH6):c.551del (p.Asn184fs)
NM_000179.3(MSH6):c.552_555del (p.Asn184fs) rs1023534466
NM_000179.3(MSH6):c.565A>T (p.Lys189Ter) rs786203597
NM_000179.3(MSH6):c.578_591del (p.Glu192_Leu193insTer)
NM_000179.3(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.3(MSH6):c.586del (p.Cys196fs) rs2104238107
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter) rs63751077
NM_000179.3(MSH6):c.599_600del (p.Pro199_Ser200insTer)
NM_000179.3(MSH6):c.601G>T (p.Glu201Ter)
NM_000179.3(MSH6):c.616G>T (p.Glu206Ter)
NM_000179.3(MSH6):c.626_627+15del rs587782172
NM_000179.3(MSH6):c.631_634del (p.Gly211fs) rs1553412041
NM_000179.3(MSH6):c.637del (p.Thr213fs)
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter) rs1800937
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.643del (p.Tyr214_Val215insTer) rs1553412064
NM_000179.3(MSH6):c.651_655del (p.Asp217fs) rs1669240720
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter) rs587779315
NM_000179.3(MSH6):c.657del (p.Ser219fs)
NM_000179.3(MSH6):c.661G>T (p.Glu221Ter)
NM_000179.3(MSH6):c.664_671dup (p.Glu226fs)
NM_000179.3(MSH6):c.670G>T (p.Glu224Ter)
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs) rs2104290462
NM_000179.3(MSH6):c.688del (p.Glu230fs) rs1669245178
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.700_701del (p.Lys234fs)
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter) rs63750996
NM_000179.3(MSH6):c.706_707del (p.Gln236fs) rs1553412129
NM_000179.3(MSH6):c.709G>T (p.Gly237Ter)
NM_000179.3(MSH6):c.710del (p.Gly237fs) rs587779319
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.719_726del (p.Arg240fs)
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.744_747del (p.Arg249fs)
NM_000179.3(MSH6):c.745del (p.Arg249fs)
NM_000179.3(MSH6):c.754del (p.Ser252fs)
NM_000179.3(MSH6):c.757_758del (p.Asp253fs) rs1669252923
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.770dup (p.Asp257fs) rs2104296608
NM_000179.3(MSH6):c.774del (p.Ile258fs)
NM_000179.3(MSH6):c.776dup (p.Gly260fs) rs1558659265
NM_000179.3(MSH6):c.790G>T (p.Glu264Ter)
NM_000179.3(MSH6):c.807dup (p.Lys270Ter)
NM_000179.3(MSH6):c.809del (p.Lys270fs) rs1114167696
NM_000179.3(MSH6):c.811_814del (p.Glu271fs)
NM_000179.3(MSH6):c.816_817insTTCC (p.Gly273fs)
NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)
NM_000179.3(MSH6):c.829del (p.Glu277fs)
NM_000179.3(MSH6):c.837delinsTAGTGG (p.Gly283fs)
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
NM_000179.3(MSH6):c.843_847dup (p.Gly283fs) rs1114167708
NM_000179.3(MSH6):c.845dup (p.Asp284fs) rs1553412283
NM_000179.3(MSH6):c.847_850dup (p.Asp284fs)
NM_000179.3(MSH6):c.847_862del (p.Gly283fs)
NM_000179.3(MSH6):c.850dup (p.Asp284fs) rs267608062
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter) rs1057520605
NM_000179.3(MSH6):c.859_860del (p.Glu286_Ser287insTer)
NM_000179.3(MSH6):c.860delinsTTCAC (p.Ser287fs)
NM_000179.3(MSH6):c.869dup (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.88_100del (p.Glu30fs)
NM_000179.3(MSH6):c.88_98del (p.Glu30fs)
NM_000179.3(MSH6):c.8_15del (p.Arg3fs) rs1572697714
NM_000179.3(MSH6):c.900_913del (p.Lys301fs)
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.904A>T (p.Arg302Ter)
NM_000179.3(MSH6):c.904del (p.Arg302fs)
NM_000179.3(MSH6):c.904dup (p.Arg302fs)
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.3(MSH6):c.90_105del (p.Gly31fs)
NM_000179.3(MSH6):c.91_101delinsA (p.Gly31fs)
NM_000179.3(MSH6):c.91_105delinsA (p.Gly31fs)
NM_000179.3(MSH6):c.928_929del (p.Ser309_Leu310insTer) rs2104306720
NM_000179.3(MSH6):c.928_931delinsT (p.Leu310_Lys311delinsTer)
NM_000179.3(MSH6):c.929_930del (p.Leu310fs)
NM_000179.3(MSH6):c.92_101del (p.Gly31fs)
NM_000179.3(MSH6):c.931_932insT (p.Lys311fs)
NM_000179.3(MSH6):c.940del (p.Ser314fs) rs2104307566
NM_000179.3(MSH6):c.943del (p.Ser315fs)
NM_000179.3(MSH6):c.952G>T (p.Glu318Ter) rs1114167763
NM_000179.3(MSH6):c.955dup (p.Thr319fs)
NM_000179.3(MSH6):c.962C>G (p.Ser321Ter) rs1472853525
NM_000179.3(MSH6):c.96_102del (p.Arg33fs)
NM_000179.3(MSH6):c.973C>T (p.Gln325Ter) rs1553412397
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs) rs2104310469
NM_000179.3(MSH6):c.97del (p.Arg33fs) rs1668118988
NM_000179.3(MSH6):c.981dup (p.Ser328Ter)
NM_000179.3(MSH6):c.988dup (p.Ser330fs) rs1553412409
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter) rs786202848
NM_000179.3(MSH6):c.992C>G (p.Ser331Ter)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000181.4(GUSB):c.1583G>A (p.Trp528Ter)
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000193.4(SHH):c.313A>T (p.Lys105Ter) rs104894045
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1426del (p.His476fs) rs2041597805
NM_000202.8(IDS):c.186_240+98del
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.632del (p.Lys211fs)
NM_000202.8(IDS):c.701_705delinsG (p.Arg233_Tyr234insTer)
NM_000202.8(IDS):c.987_988del (p.Ala330fs)
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) rs1600185499
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter) rs863223652
NM_000214.3(JAG1):c.1424dup (p.Cys475fs)
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs) rs2067324506
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter)
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
NM_000214.3(JAG1):c.2129dup (p.Asp710fs) rs2067300184
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter)
NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs) rs1555904596
NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val) rs797044929
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe) rs104894349
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.107dup (p.Ser37fs)
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) rs794728571
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter)
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1128+2T>A rs2133754863
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs)
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs) rs1848632145
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1514+1G>A rs397508093
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1660del (p.Val554fs) rs794728561
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) rs2133992401
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.221dup (p.Val75fs)
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.510del (p.Glu170fs) rs1554892895
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) rs763462603
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000218.3(KCNQ1):c.713_719del (p.Met238fs)
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs) rs1060500626
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter)
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.919del (p.Val307fs) rs2133733071
NM_000218.3(KCNQ1):c.931del (p.Thr311fs)
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg) rs120074184
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser) rs74462309
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) rs1057519710
NM_000229.2(LCAT):c.101dup (p.His35fs)
NM_000237.3(LPL):c.1019-2A>T rs767366957
NM_000237.3(LPL):c.1019-3C>A rs2128839190
NM_000237.3(LPL):c.1322+2T>G
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) rs118204065
NM_000237.3(LPL):c.440_443del (p.Asn147fs)
NM_000237.3(LPL):c.566_567del (p.Asn188_Phe189insTer) rs1416098529
NM_000237.3(LPL):c.58_71delinsCCTC (p.Ala20fs)
NM_000237.3(LPL):c.899_921dup (p.Asn308delinsGlySerAlaTer)
NM_000238.4(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) rs794728364
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1142del (p.Gly381fs) rs794728497
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_000238.4(KCNH2):c.1385dup (p.Met462fs)
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter) rs1584883377
NM_000238.4(KCNH2):c.1557+1G>A rs886039043
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_000238.4(KCNH2):c.1620del (p.Arg541fs) rs1554425955
NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter) rs1554430962
NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs)
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro) rs199472921
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter) rs199472926
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1742del (p.Ser581fs)
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly) rs199472940
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile) rs199472947
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1888del (p.Val630fs) rs1554425724
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) rs199472971
NM_000238.4(KCNH2):c.1946-2A>C rs794728488
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
NM_000238.4(KCNH2):c.205_271del (p.Leu69fs)
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2236del (p.Ala746fs) rs1554425277
NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs)
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.2470del (p.Ala824fs) rs1064793434
NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter) rs794728393
NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter)
NM_000238.4(KCNH2):c.2567dup (p.Glu857fs)
NM_000238.4(KCNH2):c.2647del (p.Arg883fs)
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs) rs1554424620
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter) rs1800975855
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs) rs794728502
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs) rs794728502
NM_000238.4(KCNH2):c.2734dup (p.Arg912fs)
NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs)
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) rs1584845263
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs) rs2116933379
NM_000238.4(KCNH2):c.2775del (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2857dup (p.Leu953fs)
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs)
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000238.4(KCNH2):c.2927del (p.Asp976fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter)
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.4(KCNH2):c.307_307+1delinsTT rs1554430850
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs) rs1554424070
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs) rs1554424083
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs)
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) rs1800937691
NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs) rs2116928626
NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs)
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) rs794728469
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter)
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs) rs1584841841
NM_000238.4(KCNH2):c.3330+1G>A rs1368439403
NM_000238.4(KCNH2):c.397del (p.Met133fs)
NM_000238.4(KCNH2):c.422dup (p.Ala142fs) rs2117011733
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
NM_000238.4(KCNH2):c.464_467del (p.Leu155fs)
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_000238.4(KCNH2):c.557dup (p.Gly187fs)
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) rs794728420
NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs) rs1085307620
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.4(KCNH2):c.735dup (p.Gly246fs)
NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter) rs794728360
NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs) rs1554427697
NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs) rs1554427692
NM_000238.4(KCNH2):c.892_904del (p.Pro298fs)
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs) rs1554427596
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000245.4(MET):c.3392T>C (p.Met1131Thr) rs121913668
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000249.3(MLH1):c.1897dupG
NM_000249.3(MLH1):c.1990-1_1991delGGT
NM_000249.3(MLH1):c.209_215del rs730881734
NM_000249.3(MLH1):c.2148_2168del21ins5
NM_000249.3:c.(1896+1_1897-1)_(2103+1_2104-1)dup
NM_000249.3:c.1667+678insALU
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.-7_1del (p.Met1fs) rs2125693198
NM_000249.4(MLH1):c.1003del (p.Leu335fs) rs2082990862
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1017del (p.Ser340fs) rs63750339
NM_000249.4(MLH1):c.1023del (p.Met342fs) rs63749837
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter) rs1553648220
NM_000249.4(MLH1):c.1029del (p.Phe344fs) rs876661059
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1036del (p.Gln346fs) rs876659073
NM_000249.4(MLH1):c.1038+1G>T
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1038G>C (p.Gln346His) rs63751715
NM_000249.4(MLH1):c.1038G>T (p.Gln346His) rs63751715
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1039-1G>C rs267607819
NM_000249.4(MLH1):c.1039-1G>T
NM_000249.4(MLH1):c.1042_1043del (p.Leu348fs) rs1060500703
NM_000249.4(MLH1):c.1043T>A (p.Leu348Ter)
NM_000249.4(MLH1):c.1046dup (p.Pro350fs) rs267607822
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.4(MLH1):c.1051G>T (p.Gly351Ter) rs1437454428
NM_000249.4(MLH1):c.1065_1086del (p.Ser356fs)
NM_000249.4(MLH1):c.1065del (p.Ser356fs)
NM_000249.4(MLH1):c.1068_1072del (p.Gly357fs)
NM_000249.4(MLH1):c.1072G>T (p.Glu358Ter)
NM_000249.4(MLH1):c.1072dup (p.Glu358fs)
NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs)
NM_000249.4(MLH1):c.1090del (p.Thr364fs) rs876659226
NM_000249.4(MLH1):c.1091_1092del (p.Thr364fs)
NM_000249.4(MLH1):c.1101del (p.Ser368fs) rs63750715
NM_000249.4(MLH1):c.1103C>A (p.Ser368Ter)
NM_000249.4(MLH1):c.1105dup (p.Ser369fs) rs1060500699
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.1114del (p.Ser372fs)
NM_000249.4(MLH1):c.1117G>T (p.Gly373Ter)
NM_000249.4(MLH1):c.1118del (p.Gly373fs)
NM_000249.4(MLH1):c.1120_1127del (p.Gly373_Ser374insTer)
NM_000249.4(MLH1):c.1122del (p.Ser374fs)
NM_000249.4(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr) rs63750580
NM_000249.4(MLH1):c.1130_1136del (p.Lys377fs)
NM_000249.4(MLH1):c.1130dup (p.Val378fs) rs1553650741
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.4(MLH1):c.1141del (p.His381fs)
NM_000249.4(MLH1):c.1144C>T (p.Gln382Ter)
NM_000249.4(MLH1):c.114del (p.Cys39fs)
NM_000249.4(MLH1):c.1152_1155dup (p.Thr386fs)
NM_000249.4(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.4(MLH1):c.116+2T>C
NM_000249.4(MLH1):c.116+2T>G
NM_000249.4(MLH1):c.116+5G>C rs267607710
NM_000249.4(MLH1):c.116+96C>T
NM_000249.4(MLH1):c.1168dup (p.Glu390fs) rs2083411159
NM_000249.4(MLH1):c.117-1390_171del
NM_000249.4(MLH1):c.117-1G>A rs587779950
NM_000249.4(MLH1):c.117-1G>T rs587779950
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs) rs2083412120
NM_000249.4(MLH1):c.1173del (p.Lys392fs)
NM_000249.4(MLH1):c.1181dup (p.Asp394fs)
NM_000249.4(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter) rs63750483
NM_000249.4(MLH1):c.1199dup (p.Ser401fs)
NM_000249.4(MLH1):c.119T>G (p.Leu40Ter)
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.1212_1213del (p.Ser405fs)
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.121del (p.Asp41fs)
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.4(MLH1):c.1226dup (p.Ala410fs)
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.4(MLH1):c.122A>T (p.Asp41Val) rs63751094
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer) rs1575536254
NM_000249.4(MLH1):c.1239dup (p.Glu414fs) rs2125883954
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.4(MLH1):c.1250_1251del (p.Thr417fs)
NM_000249.4(MLH1):c.1251dup (p.Asp418fs)
NM_000249.4(MLH1):c.1253_1262dup (p.Ser421delinsArgTyrPheTer)
NM_000249.4(MLH1):c.1257_1273del (p.Ile419fs) rs786203893
NM_000249.4(MLH1):c.1259_1260del (p.Ile419_Ser420insTer)
NM_000249.4(MLH1):c.125dup (p.Ser44fs)
NM_000249.4(MLH1):c.1261_1262delinsC (p.Ser421fs) rs1575536698
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.127A>T (p.Lys43Ter) rs2081161426
NM_000249.4(MLH1):c.1281_1300del (p.Gln427fs)
NM_000249.4(MLH1):c.1282del (p.Asp428fs)
NM_000249.4(MLH1):c.1285G>T (p.Glu429Ter)
NM_000249.4(MLH1):c.1287_1288insC (p.Glu430fs)
NM_000249.4(MLH1):c.1288G>T (p.Glu430Ter)
NM_000249.4(MLH1):c.128_137del (p.Lys43fs)
NM_000249.4(MLH1):c.1292dup (p.Met431fs)
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.129_133del (p.Lys43fs)
NM_000249.4(MLH1):c.129del (p.Lys43fs)
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.131C>T (p.Ser44Phe) rs63751109
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs) rs587778903
NM_000249.4(MLH1):c.132del (p.Thr45fs) rs2081162085
NM_000249.4(MLH1):c.1331del (p.Asn444fs)
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter) rs1575537843
NM_000249.4(MLH1):c.133del (p.Thr45fs)
NM_000249.4(MLH1):c.1340T>A (p.Leu447Ter)
NM_000249.4(MLH1):c.1342G>T (p.Glu448Ter) rs1575537933
NM_000249.4(MLH1):c.1343dup (p.Asp450fs)
NM_000249.4(MLH1):c.1345_1357del (p.Gly449fs)
NM_000249.4(MLH1):c.1347_1348del (p.Asp450fs)
NM_000249.4(MLH1):c.1348del (p.Asp450fs) rs587778906
NM_000249.4(MLH1):c.1348dup (p.Asp450fs) rs587778906
NM_000249.4(MLH1):c.1349del (p.Asp450fs) rs2083448445
NM_000249.4(MLH1):c.1358del (p.Lys453fs)
NM_000249.4(MLH1):c.1362del (p.Thr455fs) rs267607821
NM_000249.4(MLH1):c.1363_1373del (p.Thr455fs)
NM_000249.4(MLH1):c.1363del (p.Thr455fs)
NM_000249.4(MLH1):c.1364del (p.Thr455fs)
NM_000249.4(MLH1):c.1367C>A (p.Ser456Ter)
NM_000249.4(MLH1):c.1367C>G (p.Ser456Ter)
NM_000249.4(MLH1):c.1374_1378dup (p.Glu460fs)
NM_000249.4(MLH1):c.1376C>A (p.Ser459Ter) rs2083454135
NM_000249.4(MLH1):c.1376C>G (p.Ser459Ter) rs2083454135
NM_000249.4(MLH1):c.1377del (p.Glu460fs) rs587778908
NM_000249.4(MLH1):c.1377dup (p.Glu460fs) rs63750020
NM_000249.4(MLH1):c.1378_1381del (p.Glu460fs)
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.1401del (p.Ser467fs) rs587781892
NM_000249.4(MLH1):c.1403_1404delinsG (p.Asn468fs)
NM_000249.4(MLH1):c.1407del (p.Arg470fs)
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.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) rs63751592
NM_000249.4(MLH1):c.1412del (p.Lys471fs)
NM_000249.4(MLH1):c.1413_1416del (p.Lys471fs) rs281864936
NM_000249.4(MLH1):c.1414A>T (p.Arg472Ter)
NM_000249.4(MLH1):c.1415_1416del (p.Arg472fs) rs281864936
NM_000249.4(MLH1):c.1416dup (p.His473fs) rs1553652883
NM_000249.4(MLH1):c.1418_1419del (p.His473fs)
NM_000249.4(MLH1):c.1423del (p.Glu475fs) rs1575552157
NM_000249.4(MLH1):c.1429del (p.Ser477fs)
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.4(MLH1):c.1433del (p.Asp478fs)
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.4(MLH1):c.1441del (p.Met481fs) rs878853777
NM_000249.4(MLH1):c.1441dup (p.Met481fs)
NM_000249.4(MLH1):c.1444del (p.Val482fs)
NM_000249.4(MLH1):c.1449dup (p.Asp484fs)
NM_000249.4(MLH1):c.144del (p.Gln48_Val49insTer)
NM_000249.4(MLH1):c.1456dup (p.Ser486fs) rs878853778
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1459del (p.Arg487fs)
NM_000249.4(MLH1):c.1468del (p.Glu489_Met490insTer)
NM_000249.4(MLH1):c.1473del (p.Ala492fs)
NM_000249.4(MLH1):c.147_177dup (p.Gln60delinsAspCysTer)
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.1499del (p.Ile500fs) rs2125902731
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1505del (p.Asn502fs)
NM_000249.4(MLH1):c.1507del (p.Leu503fs) rs2125902896
NM_000249.4(MLH1):c.1513del (p.Ser505fs)
NM_000249.4(MLH1):c.1520T>A (p.Leu507Ter)
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.152_164del (p.Val51fs)
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter) rs63751472
NM_000249.4(MLH1):c.1537del (p.Ile513fs)
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter) rs1553653195
NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter) rs63751705
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
NM_000249.4(MLH1):c.1550dup (p.His518fs)
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.4(MLH1):c.1556_1558+1del
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1558+1G>T rs267607832
NM_000249.4(MLH1):c.1558+1dup rs1553653237
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.1559-2A>T rs267607836
NM_000249.4(MLH1):c.1559-59_1604del
NM_000249.4(MLH1):c.155_158del (p.Lys52fs) rs587778923
NM_000249.4(MLH1):c.1560_1570delinsG (p.Leu521fs)
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.156dup (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1570_1571insAA (p.Met524fs)
NM_000249.4(MLH1):c.1571_1585delinsCTCC (p.Met524fs)
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter) rs587778929
NM_000249.4(MLH1):c.1578_1579dup (p.Asn527fs) rs1553657971
NM_000249.4(MLH1):c.1578dup (p.Asn527Ter)
NM_000249.4(MLH1):c.1591del (p.Val531fs) rs1553658009
NM_000249.4(MLH1):c.1595del (p.Gly532fs) rs1575594377
NM_000249.4(MLH1):c.15del (p.Val7fs)
NM_000249.4(MLH1):c.1601del (p.Val534fs) rs1559575143
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.4(MLH1):c.1609del (p.Gln537fs)
NM_000249.4(MLH1):c.160_161insT (p.Gly54fs)
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.1619del (p.Leu540fs)
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.4(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.4(MLH1):c.1637_1641dup (p.Tyr548fs) rs1064794267
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter) rs63750300
NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter) rs63750300
NM_000249.4(MLH1):c.1641_1642insC (p.Tyr548fs)
NM_000249.4(MLH1):c.1641dup (p.Tyr548fs)
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
NM_000249.4(MLH1):c.1644C>A (p.Tyr548Ter)
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter) rs63751087
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.4(MLH1):c.1656del (p.Thr553fs) rs876660589
NM_000249.4(MLH1):c.1657_1658insAA (p.Thr553fs)
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1667+1G>T
NM_000249.4(MLH1):c.1667+2T>G
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-1G>C
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.1672G>T (p.Glu558Ter) rs63751081
NM_000249.4(MLH1):c.1673_1676dup (p.Phe560fs)
NM_000249.4(MLH1):c.1680del (p.Tyr561fs) rs1553659334
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.1686_1701dup (p.Phe568delinsAspThrHisLeuTer)
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.1688_1689insGGAT (p.Ile563fs)
NM_000249.4(MLH1):c.1689dup (p.Leu564fs) rs63750464
NM_000249.4(MLH1):c.1693dup (p.Ile565fs)
NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs) rs2125957613
NM_000249.4(MLH1):c.1696dup (p.Tyr566fs)
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.1713del (p.Phe571fs) rs2125957913
NM_000249.4(MLH1):c.1715del (p.Gly572fs)
NM_000249.4(MLH1):c.1718_1719del (p.Val573fs)
NM_000249.4(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.4(MLH1):c.1721_1722del (p.Leu574fs)
NM_000249.4(MLH1):c.1727T>A (p.Leu576Ter)
NM_000249.4(MLH1):c.1727T>G (p.Leu576Ter) rs2125958240
NM_000249.4(MLH1):c.1728_1731+40del
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+1del
NM_000249.4(MLH1):c.1731+4A>G rs1553659500
NM_000249.4(MLH1):c.1731+5G>A rs267607850
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-1G>A rs267607854
NM_000249.4(MLH1):c.1732-1G>T
NM_000249.4(MLH1):c.1732-2A>C rs267607852
NM_000249.4(MLH1):c.1732-2A>G rs267607852
NM_000249.4(MLH1):c.1736del (p.Pro579fs)
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) rs1553662622
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1745T>A (p.Leu582His)
NM_000249.4(MLH1):c.1746del (p.Phe583fs) rs876659068
NM_000249.4(MLH1):c.1747_1750dup (p.Asp584delinsValTer)
NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer) rs63750309
NM_000249.4(MLH1):c.1749del (p.Phe583fs) rs63750309
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.4(MLH1):c.1755_1757delinsG (p.Ala586fs)
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1765del (p.Ala589fs)
NM_000249.4(MLH1):c.1769T>A (p.Leu590Ter)
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.4(MLH1):c.1771del (p.Asp591fs)
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.177del (p.Gln60fs)
NM_000249.4(MLH1):c.1781dup (p.Ser595fs)
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.178C>T (p.Gln60Ter) rs2081170615
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.1801dup (p.Asp601fs)
NM_000249.4(MLH1):c.1813G>T (p.Glu605Ter)
NM_000249.4(MLH1):c.1819del (p.Ala608fs)
NM_000249.4(MLH1):c.1821dup (p.Ala608fs) rs587778947
NM_000249.4(MLH1):c.1827del (p.Glu609fs)
NM_000249.4(MLH1):c.1830C>A (p.Tyr610Ter)
NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter) rs2125985283
NM_000249.4(MLH1):c.1832_1838dup (p.Glu613delinsAspCysTer)
NM_000249.4(MLH1):c.1837G>T (p.Glu613Ter)
NM_000249.4(MLH1):c.1837del (p.Glu613fs)
NM_000249.4(MLH1):c.1840_1870dup (p.Asp624delinsValSerGluGluGluGlyTer) rs2085310643
NM_000249.4(MLH1):c.1843del (p.Phe614_Leu615insTer)
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.1853del (p.Lys618fs) rs1060500687
NM_000249.4(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1856_1862dup (p.Met621delinsIleTer)
NM_000249.4(MLH1):c.1858_1865dup (p.Ala623fs)
NM_000249.4(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.4(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.4(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.4(MLH1):c.1867dup (p.Ala623fs)
NM_000249.4(MLH1):c.1868del (p.Ala623fs) rs1575622163
NM_000249.4(MLH1):c.1874_1877del (p.Tyr625fs)
NM_000249.4(MLH1):c.1875T>A (p.Tyr625Ter)
NM_000249.4(MLH1):c.1877del (p.Phe626fs) rs63750152
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.187G>C (p.Asp63His) rs63750850
NM_000249.4(MLH1):c.1880_1881del (p.Ser627fs)
NM_000249.4(MLH1):c.1882_1883del (p.Leu628fs)
NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter) rs1553663159
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs) rs63751639
NM_000249.4(MLH1):c.1885del (p.Glu629fs)
NM_000249.4(MLH1):c.1888del (p.Ile630fs) rs2125986083
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter) rs786201990
NM_000249.4(MLH1):c.1894G>T (p.Glu632Ter)
NM_000249.4(MLH1):c.1896+1G>A rs267607867
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT
NM_000249.4(MLH1):c.1897G>T (p.Glu633Ter) rs1057520627
NM_000249.4(MLH1):c.190_191del (p.Asn64fs) rs63750469
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.4(MLH1):c.1916del (p.Leu639fs)
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
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.1924_1925del (p.Leu642fs)
NM_000249.4(MLH1):c.1924del (p.Leu641_Leu642insTer)
NM_000249.4(MLH1):c.1929del (p.Ile643fs) rs2085415927
NM_000249.4(MLH1):c.1934dup (p.Asn645fs)
NM_000249.4(MLH1):c.1937_1947del (p.Tyr646fs)
NM_000249.4(MLH1):c.1937delinsTTGGAGGGACTGCCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTT (p.Tyr646fs)
NM_000249.4(MLH1):c.1938T>G (p.Tyr646Ter)
NM_000249.4(MLH1):c.1939_1940insGCAAG (p.Val647fs)
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1944_1945delinsG (p.Pro649fs)
NM_000249.4(MLH1):c.1946_1953delinsA (p.Pro649fs)
NM_000249.4(MLH1):c.1946del (p.Pro649fs) rs281864938
NM_000249.4(MLH1):c.1946dup (p.Leu650fs)
NM_000249.4(MLH1):c.1954G>T (p.Gly652Ter)
NM_000249.4(MLH1):c.1955_1962del (p.Gly652fs)
NM_000249.4(MLH1):c.1955del (p.Gly652fs)
NM_000249.4(MLH1):c.1956dup (p.Leu653fs)
NM_000249.4(MLH1):c.1957del (p.Leu653fs)
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs) rs1553638868
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.1963dup (p.Ile655fs)
NM_000249.4(MLH1):c.1969del (p.Ile657fs)
NM_000249.4(MLH1):c.1969dup (p.Ile657fs) rs2085425585
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1975del (p.Arg659fs)
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.4(MLH1):c.197_207+20del
NM_000249.4(MLH1):c.1987G>T (p.Glu663Ter)
NM_000249.4(MLH1):c.1988A>G (p.Glu663Gly) rs63751682
NM_000249.4(MLH1):c.1989+1G>A rs267607879
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+5G>A rs267607878
NM_000249.4(MLH1):c.1989+5G>C rs267607878
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1990-1G>A rs267607884
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.1990-2A>G rs267607883
NM_000249.4(MLH1):c.1990_1994del (p.Val664fs)
NM_000249.4(MLH1):c.1994_1995insGT (p.Asn665fs)
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter) rs886039424
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter) rs63750639
NM_000249.4(MLH1):c.1999del (p.Asp667fs) rs2125992965
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.4(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.4(MLH1):c.1A>T (p.Met1Leu) rs587778967
NM_000249.4(MLH1):c.2002G>T (p.Glu668Ter)
NM_000249.4(MLH1):c.2002del (p.Glu668fs)
NM_000249.4(MLH1):c.2005G>T (p.Glu669Ter)
NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs) rs63750061
NM_000249.4(MLH1):c.2009del (p.Lys670fs) rs63750740
NM_000249.4(MLH1):c.2009dup (p.Glu671fs) rs63750740
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter) rs63750663
NM_000249.4(MLH1):c.2011del (p.Glu671fs)
NM_000249.4(MLH1):c.2013del (p.Glu671fs)
NM_000249.4(MLH1):c.2019dup (p.Glu674Ter)
NM_000249.4(MLH1):c.201del (p.Ile68fs) rs587778968
NM_000249.4(MLH1):c.201dup (p.Ile68fs) rs587778968
NM_000249.4(MLH1):c.2029del (p.Ser677fs)
NM_000249.4(MLH1):c.2031_2041del (p.Lys678fs)
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.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.2041_2042del (p.Ala681fs)
NM_000249.4(MLH1):c.2043dup (p.Met682fs) rs2125993690
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2052T>G (p.Tyr684Ter)
NM_000249.4(MLH1):c.2062A>T (p.Lys688Ter)
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.4(MLH1):c.207+1G>C
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.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.4(MLH1):c.2071_2072insG (p.Ile691fs) rs1575632112
NM_000249.4(MLH1):c.2072_2073insTT (p.Ser692fs)
NM_000249.4(MLH1):c.2072dup (p.Ser692fs)
NM_000249.4(MLH1):c.2073_2074del (p.Ile691_Ser692insTer)
NM_000249.4(MLH1):c.2077G>T (p.Glu693Ter)
NM_000249.4(MLH1):c.2077del (p.Glu693fs) rs1575632215
NM_000249.4(MLH1):c.207_207+1del
NM_000249.4(MLH1):c.208-1G>A rs267607717
NM_000249.4(MLH1):c.208-2A>C rs267607716
NM_000249.4(MLH1):c.208-2A>G rs267607716
NM_000249.4(MLH1):c.208-3C>A
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.208-5_262del rs1575413885
NM_000249.4(MLH1):c.2080dup (p.Glu694fs) rs1553664617
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.2089del (p.Leu697fs) rs1064793177
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.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.2103_2103+3del
NM_000249.4(MLH1):c.2104-2A>T rs267607889
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs)
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) rs63751642
NM_000249.4(MLH1):c.210_213del rs267607723
NM_000249.4(MLH1):c.210del (p.Glu71fs)
NM_000249.4(MLH1):c.210dup (p.Glu71fs)
NM_000249.4(MLH1):c.211G>T (p.Glu71Ter) rs63749829
NM_000249.4(MLH1):c.2133del (p.Trp712fs)
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.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.2144_2154del (p.Thr715fs)
NM_000249.4(MLH1):c.2148_2149del (p.Glu717fs) rs1575639851
NM_000249.4(MLH1):c.2149del (p.Glu717fs)
NM_000249.4(MLH1):c.2154_2155del (p.Ile719fs) rs63750971
NM_000249.4(MLH1):c.2164A>T (p.Lys722Ter)
NM_000249.4(MLH1):c.2171dup (p.Leu724fs)
NM_000249.4(MLH1):c.2173del (p.Arg725fs)
NM_000249.4(MLH1):c.2174_2181del (p.Arg725fs)
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.2181_2182del (p.Ile728fs) rs267607898
NM_000249.4(MLH1):c.2187_2190del (p.Pro730fs)
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.2192dup (p.Pro731_Lys732insTer)
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.4(MLH1):c.2194_2205delinsG (p.Lys732fs)
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2197_2198del (p.His733fs)
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter) rs876659608
NM_000249.4(MLH1):c.2218dup (p.Ile740fs) rs587778989
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.4(MLH1):c.2236dup (p.Leu746fs) rs1553665977
NM_000249.4(MLH1):c.223_229del (p.Ile75fs)
NM_000249.4(MLH1):c.2245del (p.Leu749fs)
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.2249dup (p.Tyr750Ter) rs878853787
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.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.4(MLH1):c.227del (p.Val76fs)
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.232del (p.Glu78fs) rs587778997
NM_000249.4(MLH1):c.235del (p.Arg79fs)
NM_000249.4(MLH1):c.235dup (p.Arg79fs)
NM_000249.4(MLH1):c.237_238delinsTGTTATA (p.Arg79fs)
NM_000249.4(MLH1):c.237del (p.Arg79fs) rs1575414387
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.250A>T (p.Lys84Ter)
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.264_265insC (p.Glu89fs)
NM_000249.4(MLH1):c.268del (p.Asp90fs) rs1060500688
NM_000249.4(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.4(MLH1):c.277_278dup (p.Ser93fs)
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.287_288del (p.Thr96fs)
NM_000249.4(MLH1):c.287_290del (p.Thr96fs)
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter) rs1575414904
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe) rs1553640314
NM_000249.4(MLH1):c.2T>A (p.Met1Lys) rs111052004
NM_000249.4(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.4(MLH1):c.2T>G (p.Met1Arg) rs111052004
NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)
NM_000249.4(MLH1):c.306+1G>A rs267607734
NM_000249.4(MLH1):c.306+2T>A
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.307-2A>G rs267607732
NM_000249.4(MLH1):c.313dup (p.Ala105fs)
NM_000249.4(MLH1):c.31del (p.Leu11fs) rs63749816
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg) rs63750507
NM_000249.4(MLH1):c.322dup (p.Ser108fs)
NM_000249.4(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.4(MLH1):c.332_353del (p.Ala111fs)
NM_000249.4(MLH1):c.339del (p.Thr114fs) rs1553641295
NM_000249.4(MLH1):c.340dup (p.Thr114fs)
NM_000249.4(MLH1):c.342_363del (p.Ile115fs)
NM_000249.4(MLH1):c.345del (p.Thr116fs)
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.4(MLH1):c.34_36delinsTAA (p.Asp12Ter)
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) rs2080891193
NM_000249.4(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.356_357insT (p.Ala120fs) rs1575428643
NM_000249.4(MLH1):c.362dup (p.Asp121fs)
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.36_38del (p.Asp12del)
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu) rs1553641362
NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter) rs63751606
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.4(MLH1):c.37del (p.Glu13fs) rs63750081
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+1G>T rs267607745
NM_000249.4(MLH1):c.380+2T>A rs267607742
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.386del (p.Ser129fs)
NM_000249.4(MLH1):c.388del (p.Tyr130fs) rs587779009
NM_000249.4(MLH1):c.389del (p.Tyr130fs) rs587779012
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.4(MLH1):c.38del (p.Glu13fs)
NM_000249.4(MLH1):c.38dup (p.Thr14fs) rs63750057
NM_000249.4(MLH1):c.390C>A (p.Tyr130Ter)
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter) rs1060500689
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.39_40del (p.Glu13fs)
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.402_409del (p.Lys134fs)
NM_000249.4(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.4(MLH1):c.406_408delinsT (p.Lys136fs)
NM_000249.4(MLH1):c.408del (p.Ala137fs)
NM_000249.4(MLH1):c.413del (p.Pro138fs)
NM_000249.4(MLH1):c.418_443del (p.Lys140fs)
NM_000249.4(MLH1):c.41_42insG (p.Val15fs)
NM_000249.4(MLH1):c.420del (p.Lys140fs) rs587779015
NM_000249.4(MLH1):c.423_430delinsTAAACCTAAACCTAAACCTAAA (p.Cys142fs)
NM_000249.4(MLH1):c.426_431delinsGGACC (p.Cys142fs)
NM_000249.4(MLH1):c.426del (p.Cys142fs)
NM_000249.4(MLH1):c.428_434delinsGG (p.Ala143fs)
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.4(MLH1):c.436_438delinsG (p.Gln146fs)
NM_000249.4(MLH1):c.438del (p.Thr148fs)
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter) rs63751302
NM_000249.4(MLH1):c.453+1_453+2del
NM_000249.4(MLH1):c.453+2_453+7delinsGATC rs1575441094
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.454-1G>T rs193922370
NM_000249.4(MLH1):c.454-2A>G rs267607753
NM_000249.4(MLH1):c.457G>T (p.Glu153Ter)
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.461_462insG (p.Asp154fs)
NM_000249.4(MLH1):c.461del (p.Asp154fs)
NM_000249.4(MLH1):c.462_466del (p.Phe156fs)
NM_000249.4(MLH1):c.463del (p.Leu155fs) rs2082049708
NM_000249.4(MLH1):c.469del (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.471C>A (p.Tyr157Ter) rs74396541
NM_000249.4(MLH1):c.473del (p.Asn158fs) rs2082051355
NM_000249.4(MLH1):c.476del (p.Ile159fs)
NM_000249.4(MLH1):c.478del (p.Ala160fs)
NM_000249.4(MLH1):c.47_53del (p.Val16fs) rs876658923
NM_000249.4(MLH1):c.487A>T (p.Arg163Ter)
NM_000249.4(MLH1):c.493del (p.Ala165fs) rs1553642707
NM_000249.4(MLH1):c.503del (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.504del (p.Pro169fs)
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter) rs1559524405
NM_000249.4(MLH1):c.518dup (p.Tyr173Ter)
NM_000249.4(MLH1):c.526_527insC (p.Ile176fs)
NM_000249.4(MLH1):c.526del (p.Ile176fs) rs1575449093
NM_000249.4(MLH1):c.52del (p.Arg18fs) rs63749804
NM_000249.4(MLH1):c.530del (p.Leu177fs)
NM_000249.4(MLH1):c.53_56del (p.Arg18fs)
NM_000249.4(MLH1):c.542del (p.Gly181fs) rs1553642777
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.4(MLH1):c.545+1G>A rs267607765
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.545+3A>G rs267607760
NM_000249.4(MLH1):c.546-2A>G rs267607759
NM_000249.4(MLH1):c.549T>G (p.Tyr183Ter)
NM_000249.4(MLH1):c.54del (p.Ile19fs) rs1575376414
NM_000249.4(MLH1):c.551C>G (p.Ser184Ter) rs1064796057
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.55_79del (p.Ile19fs)
NM_000249.4(MLH1):c.561del (p.Asn187fs)
NM_000249.4(MLH1):c.566del (p.Gly189fs)
NM_000249.4(MLH1):c.567_568del (p.Gly189_Ile190insTer)
NM_000249.4(MLH1):c.569_584del (p.Ile190fs)
NM_000249.4(MLH1):c.576del (p.Ser193fs)
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter) rs63751480
NM_000249.4(MLH1):c.579del (p.Val194fs)
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>G rs587779024
NM_000249.4(MLH1):c.588+5G>A 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>C
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.589del (p.Gln197fs)
NM_000249.4(MLH1):c.592G>T (p.Gly198Ter) rs2125808143
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter) rs587779029
NM_000249.4(MLH1):c.604_605delinsA (p.Ala202fs)
NM_000249.4(MLH1):c.606_607insTT (p.Asp203fs)
NM_000249.4(MLH1):c.615del (p.Thr206fs)
NM_000249.4(MLH1):c.632C>A (p.Ser211Ter)
NM_000249.4(MLH1):c.632C>G (p.Ser211Ter)
NM_000249.4(MLH1):c.648del (p.Arg217fs)
NM_000249.4(MLH1):c.64_65insC (p.Gly22fs)
NM_000249.4(MLH1):c.651delinsTTA (p.Ser218fs)
NM_000249.4(MLH1):c.654_655delinsG (p.Ile219fs)
NM_000249.4(MLH1):c.655dup (p.Ile219fs)
NM_000249.4(MLH1):c.659_677+25del
NM_000249.4(MLH1):c.665del (p.Asn222fs) rs63750385
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>C rs267607778
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.677+3A>G rs267607780
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.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.678-1G>C rs267607784
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.678-2del
NM_000249.4(MLH1):c.678-3T>A rs267607785
NM_000249.4(MLH1):c.679G>T (p.Glu227Ter)
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.687del (p.Ile229fs) rs2082522248
NM_000249.4(MLH1):c.688G>T (p.Glu230Ter) rs1466223609
NM_000249.4(MLH1):c.691del (p.Ile231fs) rs876658339
NM_000249.4(MLH1):c.691dup (p.Ile231fs)
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg) rs1553645131
NM_000249.4(MLH1):c.698_699delinsAG (p.Cys233Ter)
NM_000249.4(MLH1):c.69del (p.Val24fs)
NM_000249.4(MLH1):c.700G>T (p.Glu234Ter)
NM_000249.4(MLH1):c.706A>T (p.Lys236Ter)
NM_000249.4(MLH1):c.71_75del (p.Val24fs) rs1553637293
NM_000249.4(MLH1):c.724del (p.Lys241_Met242insTer)
NM_000249.4(MLH1):c.727_730del (p.Asn243fs) rs267607787
NM_000249.4(MLH1):c.728dup (p.Asn243fs)
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.735C>A (p.Tyr245Ter) rs1553645226
NM_000249.4(MLH1):c.742_743del (p.Asn248fs)
NM_000249.4(MLH1):c.749_754delinsC (p.Asn250fs)
NM_000249.4(MLH1):c.749del (p.Asn250fs)
NM_000249.4(MLH1):c.751del (p.Tyr251fs)
NM_000249.4(MLH1):c.753C>A (p.Tyr251Ter)
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter) rs63750310
NM_000249.4(MLH1):c.755C>A (p.Ser252Ter) rs63750198
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.763A>T (p.Lys255Ter)
NM_000249.4(MLH1):c.764_765insT (p.Lys255fs)
NM_000249.4(MLH1):c.766dup (p.Cys256fs)
NM_000249.4(MLH1):c.768C>A (p.Cys256Ter) rs1575481212
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.4(MLH1):c.771del (p.Phe258fs) rs1553645301
NM_000249.4(MLH1):c.776T>A (p.Leu259Ter)
NM_000249.4(MLH1):c.779_786del (p.Leu260fs)
NM_000249.4(MLH1):c.77del (p.Gln26fs) rs1575376830
NM_000249.4(MLH1):c.780_781del (p.Phe261fs)
NM_000249.4(MLH1):c.782del (p.Phe261fs)
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>T rs267607789
NM_000249.4(MLH1):c.790+1del rs267607798
NM_000249.4(MLH1):c.790+2T>A rs267607790
NM_000249.4(MLH1):c.790+2T>C rs267607790
NM_000249.4(MLH1):c.790+2T>G
NM_000249.4(MLH1):c.790+2dup rs267607791
NM_000249.4(MLH1):c.790dup (p.His264fs)
NM_000249.4(MLH1):c.791-2A>C
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.791-2A>T rs267607794
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly) rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000249.4(MLH1):c.794_800del (p.Arg265fs) rs876660458
NM_000249.4(MLH1):c.799_803del (p.Val267fs)
NM_000249.4(MLH1):c.802G>T (p.Glu268Ter)
NM_000249.4(MLH1):c.802del (p.Glu268fs)
NM_000249.4(MLH1):c.804del (p.Glu268fs)
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.813del (p.Ser271_Leu272insTer) rs2125837018
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.817A>T (p.Arg273Ter)
NM_000249.4(MLH1):c.822del (p.Ala275fs)
NM_000249.4(MLH1):c.822dup (p.Ala275fs)
NM_000249.4(MLH1):c.829G>T (p.Glu277Ter)
NM_000249.4(MLH1):c.829del (p.Glu277fs)
NM_000249.4(MLH1):c.833_834del (p.Thr278fs)
NM_000249.4(MLH1):c.834_835del (p.Tyr280fs)
NM_000249.4(MLH1):c.835_839dup (p.Tyr280Ter)
NM_000249.4(MLH1):c.836del (p.Val279fs)
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.4(MLH1):c.843del (p.Ala282fs)
NM_000249.4(MLH1):c.847dup (p.Tyr283fs)
NM_000249.4(MLH1):c.849T>G (p.Tyr283Ter)
NM_000249.4(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
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.869del (p.Pro290fs)
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
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.884+1del
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.884+4A>G rs267607777
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.4(MLH1):c.889G>T (p.Glu297Ter) rs63750736
NM_000249.4(MLH1):c.892_905del (p.Ile298fs)
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000249.4(MLH1):c.911del (p.Asp304fs) rs1553647969
NM_000249.4(MLH1):c.913del (p.Val305fs)
NM_000249.4(MLH1):c.917_918del (p.Asn306fs)
NM_000249.4(MLH1):c.918del (p.Asn306fs) rs876660214
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.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.958G>T (p.Glu320Ter) rs1553648040
NM_000249.4(MLH1):c.958del (p.Glu320fs)
NM_000249.4(MLH1):c.95dup (p.Lys33fs)
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.964del (p.Ile322fs)
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.979C>T (p.Gln327Ter) rs587782087
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter) rs587779058
NM_000249.4(MLH1):c.984_997del (p.His329fs) rs587782265
NM_000249.4(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000249.4(MLH1):c.98_99dup (p.Glu34fs)
NM_000249.4(MLH1):c.991G>T (p.Glu331Ter)
NM_000249.4(MLH1):c.993del (p.Ser332fs)
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs) rs1553648149
NM_000249.4(MLH1):c.9del (p.Phe3fs) rs63750745
NM_000251.1(MSH2):c.1387delG
NM_000251.1(MSH2):c.2006-1delG
NM_000251.1(MSH2):c.2459delG
NM_000251.1(MSH2):c.367dupG
NM_000251.1:c.1075_1076delAG
NM_000251.3(MSH2):c.-15_211+105del
NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter) rs587779063
NM_000251.3(MSH2):c.1003del (p.Thr335fs) rs1673074932
NM_000251.3(MSH2):c.1007del (p.Pro336fs) rs587779064
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.100del (p.Val34fs)
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu) rs587779065
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val) rs587779065
NM_000251.3(MSH2):c.1014dup (p.Gln339fs)
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000251.3(MSH2):c.1018del (p.Arg340fs)
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1024del (p.Val342fs)
NM_000251.3(MSH2):c.1026_1033del (p.Asn343fs)
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.1030del (p.Gln344fs)
NM_000251.3(MSH2):c.1031del (p.Gln344fs)
NM_000251.3(MSH2):c.1032del (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.1042C>T (p.Gln348Ter) rs979212552
NM_000251.3(MSH2):c.1042_1069dup (p.Glu357delinsAlaAlaSerHisGlyTer)
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1043_1044del (p.Gln348fs)
NM_000251.3(MSH2):c.1043del (p.Gln348fs) rs1114167809
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1049del (p.Leu350fs)
NM_000251.3(MSH2):c.104_105dup (p.Leu36fs)
NM_000251.3(MSH2):c.1057A>T (p.Lys353Ter)
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.3(MSH2):c.1068del (p.Ile356fs) rs1114167867
NM_000251.3(MSH2):c.1069G>T (p.Glu357Ter)
NM_000251.3(MSH2):c.106del (p.Leu36fs)
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
NM_000251.3(MSH2):c.1072dup (p.Glu358fs) rs1558466769
NM_000251.3(MSH2):c.1073dup (p.Arg359fs)
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1076+1G>T rs267607940
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1076_1077dup (p.Leu360fs) rs1114167858
NM_000251.3(MSH2):c.1077-1G>A
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.1077A>T (p.Arg359Ser) rs63751617
NM_000251.3(MSH2):c.1077_1087delinsTTA (p.Arg359fs)
NM_000251.3(MSH2):c.1082_1083insG (p.Asn361fs)
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter) rs1558478136
NM_000251.3(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.3(MSH2):c.1093del (p.Ala365fs)
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
NM_000251.3(MSH2):c.1099del (p.Phe366_Val367insTer) rs587779073
NM_000251.3(MSH2):c.1102G>T (p.Glu368Ter) rs1673931379
NM_000251.3(MSH2):c.1102_1162dup (p.Asn388delinsArgArgCysArgIleGluAlaAspPheThrArgArgPheThrSerSerIleProArgSerTer)
NM_000251.3(MSH2):c.1108dup (p.Ala370fs)
NM_000251.3(MSH2):c.110del (p.Phe37fs) rs63751056
NM_000251.3(MSH2):c.1111G>T (p.Glu371Ter) rs1060501994
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.1127T>A (p.Leu376Ter)
NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter) rs63750267
NM_000251.3(MSH2):c.1130_1136del (p.Gln377fs)
NM_000251.3(MSH2):c.1132_1133del (p.Glu378fs)
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.3(MSH2):c.1139del (p.Leu380fs) rs63750039
NM_000251.3(MSH2):c.1142_1152del (p.Leu381fs)
NM_000251.3(MSH2):c.1144_1148del (p.Arg382fs)
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1147dup (p.Arg383fs)
NM_000251.3(MSH2):c.1151del (p.Phe384fs)
NM_000251.3(MSH2):c.1162_1163del (p.Asn388fs)
NM_000251.3(MSH2):c.1163dup (p.Asn388fs) rs2104439295
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1170del (p.Ala391fs)
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.3(MSH2):c.1178dup (p.Phe394fs)
NM_000251.3(MSH2):c.117_121del (p.Gly40fs)
NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter) rs63750302
NM_000251.3(MSH2):c.1183_1184insCAGTTTC (p.Gln395fs)
NM_000251.3(MSH2):c.1183del (p.Gln395fs)
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter) rs63750611
NM_000251.3(MSH2):c.1189del (p.Gln397fs)
NM_000251.3(MSH2):c.1191_1195del (p.Gln397fs)
NM_000251.3(MSH2):c.1196del (p.Ala399fs)
NM_000251.3(MSH2):c.119del (p.Gly40fs) rs63750984
NM_000251.3(MSH2):c.11dup (p.Pro5fs) rs730881775
NM_000251.3(MSH2):c.1200_1213del (p.Asn400fs)
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.3(MSH2):c.1202T>G (p.Leu401Ter)
NM_000251.3(MSH2):c.1202_1255del (p.Leu401_Gln419delinsTer)
NM_000251.3(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter) rs63751412
NM_000251.3(MSH2):c.1204_1231del (p.Leu401_Gln402insTer)
NM_000251.3(MSH2):c.1204del (p.Gln402fs) rs63751413
NM_000251.3(MSH2):c.1208del (p.Asp403fs) rs1553356678
NM_000251.3(MSH2):c.120dup (p.Asp41fs)
NM_000251.3(MSH2):c.1210del (p.Cys404fs) rs587782777
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter) rs63751271
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.1216del (p.Arg406fs)
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs) rs587779076
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.3(MSH2):c.1223dup (p.Tyr408Ter)
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.1229del (p.Gly410fs) rs1553356700
NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1239del (p.Gln413fs)
NM_000251.3(MSH2):c.1244_1245del (p.Pro415fs)
NM_000251.3(MSH2):c.1245_1246dup (p.Asn416fs)
NM_000251.3(MSH2):c.1245del (p.Asn416fs)
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs) rs1553356720
NM_000251.3(MSH2):c.1247del (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.1252dup (p.Ile418fs) rs1114167830
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.3(MSH2):c.1260_1264del (p.Leu421fs)
NM_000251.3(MSH2):c.1261_1271delinsG (p.Leu421fs)
NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter) rs63751712
NM_000251.3(MSH2):c.1269del (p.Lys423fs)
NM_000251.3(MSH2):c.1269dup (p.His424fs) rs63751667
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter) rs1064795063
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1276+2T>G
NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1277-1G>T rs267607948
NM_000251.3(MSH2):c.1277-2A>C rs267607949
NM_000251.3(MSH2):c.1277-2A>G rs267607949
NM_000251.3(MSH2):c.1277-2A>T rs267607949
NM_000251.3(MSH2):c.1277-4_1277-2delinsCTG
NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)
NM_000251.3(MSH2):c.1281dup (p.His428fs)
NM_000251.3(MSH2):c.1282dup (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.1290del (p.Lys430fs)
NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter) rs63751315
NM_000251.3(MSH2):c.1298del (p.Leu433fs)
NM_000251.3(MSH2):c.1300del (p.Ala434fs)
NM_000251.3(MSH2):c.1300dup (p.Ala434fs)
NM_000251.3(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.3(MSH2):c.1308del (p.Phe436fs)
NM_000251.3(MSH2):c.1309del (p.Phe436_Val437insTer)
NM_000251.3(MSH2):c.1310del (p.Val437fs)
NM_000251.3(MSH2):c.1312del (p.Thr438fs)
NM_000251.3(MSH2):c.1316del (p.Pro439fs) rs1573519371
NM_000251.3(MSH2):c.1318_1319del (p.Leu440fs) rs587779083
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1320_1333del (p.Leu440_Thr441insTer)
NM_000251.3(MSH2):c.1321del (p.Thr441fs) rs1675069387
NM_000251.3(MSH2):c.1321dup (p.Thr441fs) rs63750807
NM_000251.3(MSH2):c.1324_1328dup (p.Arg444fs)
NM_000251.3(MSH2):c.132_136dup (p.His46fs)
NM_000251.3(MSH2):c.1337del (p.Asp446fs)
NM_000251.3(MSH2):c.1340dup (p.Ser448fs)
NM_000251.3(MSH2):c.1341_1343delinsTCAGGAAATGATAGAAA (p.Ser448fs)
NM_000251.3(MSH2):c.1344del (p.Lys449fs) rs876658918
NM_000251.3(MSH2):c.1344dup (p.Lys449fs)
NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter) rs63749920
NM_000251.3(MSH2):c.1346dup (p.Phe450fs)
NM_000251.3(MSH2):c.1350del (p.Gln451fs) rs1553361261
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.1356_1360del (p.Glu452fs)
NM_000251.3(MSH2):c.1357del (p.Glu452_Met453insTer)
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg) rs1060502025
NM_000251.3(MSH2):c.1361_1364del (p.Ile454fs)
NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)
NM_000251.3(MSH2):c.1368_1369del (p.Thr457fs)
NM_000251.3(MSH2):c.1370_1373del (p.Thr457fs)
NM_000251.3(MSH2):c.1370del (p.Thr457fs)
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.1381del (p.Asp461fs)
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1384dup (p.Gln462fs) rs2103760063
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter) rs876658223
NM_000251.3(MSH2):c.1394del (p.Asn465fs) rs863225390
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter) rs587779089
NM_000251.3(MSH2):c.1400_1410delinsT (p.Glu467fs)
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1401dup (p.Phe468fs) rs1553365711
NM_000251.3(MSH2):c.1402_1429del (p.Phe468fs)
NM_000251.3(MSH2):c.1403dup (p.Leu469fs)
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer) rs63750384
NM_000251.3(MSH2):c.1409_1410delinsG (p.Val470fs)
NM_000251.3(MSH2):c.1413del (p.Lys471fs) rs1553365719
NM_000251.3(MSH2):c.1413dup (p.Pro472fs)
NM_000251.3(MSH2):c.1415dup (p.Ser473fs) rs1573547745
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter) rs63751403
NM_000251.3(MSH2):c.141_154del (p.Glu48fs) rs863224481
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1431_1433delinsC (p.Leu478fs)
NM_000251.3(MSH2):c.1435_1436del (p.Leu478_Ser479insTer)
NM_000251.3(MSH2):c.1440del (p.Glu480fs)
NM_000251.3(MSH2):c.1440dup (p.Leu481fs) rs1666728055
NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter) rs786203036
NM_000251.3(MSH2):c.1444dup (p.Arg482fs) rs63750068
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
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.1458del (p.Asn486fs)
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs) rs876658834
NM_000251.3(MSH2):c.1463T>A (p.Leu488Ter)
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter) rs876658187
NM_000251.3(MSH2):c.1468_1469dup (p.Lys491fs)
NM_000251.3(MSH2):c.1471A>T (p.Lys491Ter) rs1666730991
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.3(MSH2):c.1478del (p.Gln493fs) rs1553365799
NM_000251.3(MSH2):c.1481C>A (p.Ser494Ter)
NM_000251.3(MSH2):c.1483del (p.Thr495fs)
NM_000251.3(MSH2):c.1485_1507del (p.Leu496fs)
NM_000251.3(MSH2):c.1486_1487dup (p.Leu496fs) rs1573548065
NM_000251.3(MSH2):c.1486_1492del (p.Leu496fs)
NM_000251.3(MSH2):c.1487T>G (p.Leu496Ter) rs587779093
NM_000251.3(MSH2):c.1487_1490del (p.Thr495_Leu496insTer)
NM_000251.3(MSH2):c.1487del (p.Thr495_Leu496insTer) rs1573548065
NM_000251.3(MSH2):c.1490dup (p.Ser498fs)
NM_000251.3(MSH2):c.1495del (p.Ala499fs)
NM_000251.3(MSH2):c.1498_1504dup (p.Asp502fs)
NM_000251.3(MSH2):c.1499_1502del (p.Ala500fs)
NM_000251.3(MSH2):c.1510+1G>T
NM_000251.3(MSH2):c.1510+2T>A
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1511del (p.Gly504Alafs) rs2104170912
NM_000251.3(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter) rs587779097
NM_000251.3(MSH2):c.1532_1538del (p.Ile511fs)
NM_000251.3(MSH2):c.1533del (p.Lys512fs) rs1114167853
NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter) rs1573553178
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.153dup (p.Leu52fs) rs1553348842
NM_000251.3(MSH2):c.1543del (p.Ser515fs)
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.1557del (p.Phe519fs) rs1553366554
NM_000251.3(MSH2):c.1560del (p.Tyr521fs)
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.3(MSH2):c.1564del (p.Tyr522fs)
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs) rs1064793561
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1569del (p.Arg524fs)
NM_000251.3(MSH2):c.1569dup (p.Arg524fs)
NM_000251.3(MSH2):c.1570del (p.Arg524fs) rs1064795653
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1572del (p.Arg524_Val525insTer)
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.1579dup (p.Cys527fs) rs1553366583
NM_000251.3(MSH2):c.1585G>T (p.Glu529Ter)
NM_000251.3(MSH2):c.1587_1597delinsT (p.Glu529fs) rs1114167820
NM_000251.3(MSH2):c.1588G>T (p.Glu530Ter)
NM_000251.3(MSH2):c.1592_1593del (p.Lys531fs)
NM_000251.3(MSH2):c.1593del (p.Val532fs) rs1558511051
NM_000251.3(MSH2):c.1593dup (p.Val532fs)
NM_000251.3(MSH2):c.1597dup (p.Leu533fs)
NM_000251.3(MSH2):c.1600del (p.Arg534fs)
NM_000251.3(MSH2):c.1601del (p.Arg534fs)
NM_000251.3(MSH2):c.1602dup (p.Asn535Ter)
NM_000251.3(MSH2):c.1604del (p.Asn535fs)
NM_000251.3(MSH2):c.1605del (p.Asn535fs)
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.1627del (p.Asp543fs) rs63750675
NM_000251.3(MSH2):c.162_163del (p.Arg55fs)
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter) rs1666904987
NM_000251.3(MSH2):c.1637_1641del (p.Lys546fs)
NM_000251.3(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs) rs1114167835
NM_000251.3(MSH2):c.1650del (p.Lys550fs)
NM_000251.3(MSH2):c.1651_1654del (p.Phe551fs)
NM_000251.3(MSH2):c.1656del (p.Asn553fs) rs1114167817
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.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr) rs63750597
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1662-2A>T rs267607971
NM_000251.3(MSH2):c.1665del (p.Lys555fs) rs63751120
NM_000251.3(MSH2):c.1666_1672del (p.Leu556_Thr557insTer) rs1064794071
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.1673_1684del (p.Ser558_Glu562delinsTer)
NM_000251.3(MSH2):c.1673del (p.Ser558fs) rs1573560283
NM_000251.3(MSH2):c.1676_1681del (p.Leu559_Glu561delinsTer)
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer) rs63750633
NM_000251.3(MSH2):c.1679del (p.Asn560fs) rs63750054
NM_000251.3(MSH2):c.167_185del (p.Glu56fs)
NM_000251.3(MSH2):c.167del (p.Glu56fs)
NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter) rs63750328
NM_000251.3(MSH2):c.1681del (p.Glu561fs)
NM_000251.3(MSH2):c.1683dup (p.Glu562fs)
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter) rs1114167816
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs) rs587779103
NM_000251.3(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.3(MSH2):c.1697dup (p.Asn566fs)
NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter) rs63751149
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs) rs63750474
NM_000251.3(MSH2):c.1702dup (p.Thr568fs) rs587779105
NM_000251.3(MSH2):c.1705G>T (p.Glu569Ter)
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1706_1719delinsCATAA (p.Glu569_Ala573delinsAlaTer)
NM_000251.3(MSH2):c.1707del (p.Glu569fs)
NM_000251.3(MSH2):c.1710T>A (p.Tyr570Ter)
NM_000251.3(MSH2):c.1710T>G (p.Tyr570Ter)
NM_000251.3(MSH2):c.1711G>T (p.Glu571Ter)
NM_000251.3(MSH2):c.171_172del (p.Phe58fs)
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter) rs63751298
NM_000251.3(MSH2):c.1721del (p.Gln574fs)
NM_000251.3(MSH2):c.1724del (p.Asp575fs)
NM_000251.3(MSH2):c.1728_1746dup (p.Asn583delinsHisCysTer)
NM_000251.3(MSH2):c.1728del (p.Ile577fs)
NM_000251.3(MSH2):c.1728dup (p.Ile577fs) rs1573560572
NM_000251.3(MSH2):c.1737del (p.Glu580fs)
NM_000251.3(MSH2):c.1737dup (p.Glu580fs)
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.3(MSH2):c.1738_1741del (p.Glu580fs) rs1057524910
NM_000251.3(MSH2):c.173_211+2147del
NM_000251.3(MSH2):c.1741del (p.Ile581fs) rs63750141
NM_000251.3(MSH2):c.174dup (p.Lys59fs) rs1672250622
NM_000251.3(MSH2):c.1753del (p.Ser585fs) rs63751433
NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter) rs1114167854
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1759+2T>A rs267607976
NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg) rs63751140
NM_000251.3(MSH2):c.1759G>T (p.Gly587Cys) rs63751140
NM_000251.3(MSH2):c.175A>T (p.Lys59Ter) rs771255106
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1760-2_1783del rs1064795329
NM_000251.3(MSH2):c.1761_1765dup (p.Val589fs)
NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter) rs63750844
NM_000251.3(MSH2):c.1770del (p.Glu590fs) rs1573566217
NM_000251.3(MSH2):c.1771_1772insA (p.Pro591fs) rs267607977
NM_000251.3(MSH2):c.1774dup (p.Met592fs)
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.3(MSH2):c.1777_1789del (p.Gln593fs)
NM_000251.3(MSH2):c.1782dup (p.Leu595fs) rs876658940
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.3(MSH2):c.1784dup (p.Asn596fs) rs1553368518
NM_000251.3(MSH2):c.1785_1787del (p.Asn596del)
NM_000251.3(MSH2):c.1785_1788delinsATGCAGGCTATGTAGACAATGCA (p.Asn596fs)
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1787dup (p.Asn596fs) rs587779111
NM_000251.3(MSH2):c.1792_1796del (p.Val598fs) rs1573566411
NM_000251.3(MSH2):c.1793del (p.Val598fs) rs786202790
NM_000251.3(MSH2):c.1794_1803del (p.Val598_Leu599insTer) rs1553368540
NM_000251.3(MSH2):c.1796T>A (p.Leu599Ter)
NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)
NM_000251.3(MSH2):c.1798_1886del (p.Ala600fs)
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.1803dup (p.Leu602fs) rs786203704
NM_000251.3(MSH2):c.1804_1807dup (p.Asp603fs)
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1808del (p.Asp603fs)
NM_000251.3(MSH2):c.1809dup (p.Ala604fs) rs1114167876
NM_000251.3(MSH2):c.180_189delinsACCCCC (p.Gln61fs)
NM_000251.3(MSH2):c.1810_1811delinsACTGTTGTCAGCT (p.Ala604fs)
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del) rs1553368576
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.1821del (p.Phe608fs)
NM_000251.3(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.3(MSH2):c.1829_1867delinsGA (p.His610fs)
NM_000251.3(MSH2):c.1831_1838del (p.Val611fs)
NM_000251.3(MSH2):c.1832del (p.Val611fs)
NM_000251.3(MSH2):c.1832dup (p.Ser612fs)
NM_000251.3(MSH2):c.1834del (p.Ser612fs) rs1114167879
NM_000251.3(MSH2):c.1835C>A (p.Ser612Ter)
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.3(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.3(MSH2):c.1839_1845dup (p.Pro616fs)
NM_000251.3(MSH2):c.1839_1846dup (p.Pro616fs)
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter) rs1380847972
NM_000251.3(MSH2):c.1840_1841delinsA (p.Gly614fs)
NM_000251.3(MSH2):c.1843_1844del (p.Ala615fs) rs1114167856
NM_000251.3(MSH2):c.1847del (p.Pro616fs)
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs) rs1573566787
NM_000251.3(MSH2):c.1853del (p.Pro618fs) rs267607984
NM_000251.3(MSH2):c.1854_1857del (p.Val620fs) rs1573566819
NM_000251.3(MSH2):c.1856_1857insG (p.Tyr619Ter)
NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter) rs63750312
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.3(MSH2):c.1865del (p.Pro622fs)
NM_000251.3(MSH2):c.1869del (p.Ile624fs)
NM_000251.3(MSH2):c.186_187dup (p.Val63fs) rs63750160
NM_000251.3(MSH2):c.1874del (p.Leu625fs)
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter) rs1667240403
NM_000251.3(MSH2):c.1876dup (p.Glu626fs)
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.1888G>T (p.Gly630Ter) rs1114167866
NM_000251.3(MSH2):c.1889del (p.Gly630fs)
NM_000251.3(MSH2):c.1892_1902del (p.Arg631fs)
NM_000251.3(MSH2):c.1893_1899dup (p.Leu634fs)
NM_000251.3(MSH2):c.1894_1916del (p.Ile632fs)
NM_000251.3(MSH2):c.1897_1906del (p.Ile633fs)
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.1905del (p.Ala636fs)
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.1916_1919dup (p.Val642fs)
NM_000251.3(MSH2):c.1916_1927delinsT (p.His639fs)
NM_000251.3(MSH2):c.1921del (p.Cys641fs) rs1573567132
NM_000251.3(MSH2):c.1923_1927del (p.Cys641_Glu643delinsTer)
NM_000251.3(MSH2):c.1924_1928delinsTTTC (p.Val642fs) rs1114167882
NM_000251.3(MSH2):c.1927G>T (p.Glu643Ter)
NM_000251.3(MSH2):c.1928_1929del (p.Glu643fs)
NM_000251.3(MSH2):c.192del (p.Lys65fs)
NM_000251.3(MSH2):c.192dup (p.Lys65fs) rs1553348896
NM_000251.3(MSH2):c.1930del (p.Val644fs) rs1114167823
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter) rs267607982
NM_000251.3(MSH2):c.1934_1944del (p.Gln645fs)
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs) rs1553368675
NM_000251.3(MSH2):c.1950dup (p.Ile651fs) rs1114167844
NM_000251.3(MSH2):c.1953del (p.Pro652fs)
NM_000251.3(MSH2):c.1958del (p.Asn653fs)
NM_000251.3(MSH2):c.1960dup (p.Asp654fs)
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.1968_1969delinsAC (p.Tyr656_Phe657delinsTer) rs1573567451
NM_000251.3(MSH2):c.1968del (p.Phe657fs) rs1114167805
NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)
NM_000251.3(MSH2):c.1972_1982del (p.Glu658fs)
NM_000251.3(MSH2):c.1977del (p.Asp660fs)
NM_000251.3(MSH2):c.1977dup (p.Asp660fs)
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
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.1985dup (p.Met663fs) rs1573567537
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs) rs587779122
NM_000251.3(MSH2):c.1986del (p.Met663fs) rs63749929
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.1997_2005+4del
NM_000251.3(MSH2):c.1997del (p.Ile666fs)
NM_000251.3(MSH2):c.1998_1999dup (p.Ile667fs)
NM_000251.3(MSH2):c.19del (p.Glu7fs)
NM_000251.3(MSH2):c.2001dup (p.Thr668fs)
NM_000251.3(MSH2):c.2003del (p.Thr668fs) rs1573567630
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs) rs876659961
NM_000251.3(MSH2):c.2005+1G>A rs267607986
NM_000251.3(MSH2):c.2005+1G>C rs267607986
NM_000251.3(MSH2):c.2005+2T>C rs267607987
NM_000251.3(MSH2):c.2005+2T>G rs267607987
NM_000251.3(MSH2):c.2006-1G>A
NM_000251.3(MSH2):c.2006-1G>C rs267607988
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006-2A>C
NM_000251.3(MSH2):c.2006-2A>T rs267607991
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2010dup (p.Asn671fs) rs63751123
NM_000251.3(MSH2):c.2013del (p.Asn671fs) rs1553368988
NM_000251.3(MSH2):c.2017G>T (p.Gly673Ter)
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
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.2030C>G (p.Thr677Arg) rs876660711
NM_000251.3(MSH2):c.2034T>A (p.Tyr678Ter) rs1558519611
NM_000251.3(MSH2):c.2035_2036del (p.Ile679fs) rs587779129
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro) rs1203462814
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.2046_2047del (p.Val684fs) rs587779131
NM_000251.3(MSH2):c.2049_2050del (p.Val684fs)
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.2050del (p.Gly683_Val684insTer)
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg) rs1667303602
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp) rs1060502020
NM_000251.3(MSH2):c.2068C>T (p.Gln690Ter)
NM_000251.3(MSH2):c.206del (p.Pro69fs) rs1553348904
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.3(MSH2):c.2076dup (p.Cys693fs)
NM_000251.3(MSH2):c.2078del (p.Cys693fs)
NM_000251.3(MSH2):c.2079T>A (p.Cys693Ter) rs1553369089
NM_000251.3(MSH2):c.2080_2081delinsG (p.Phe694fs)
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser) rs1114167857
NM_000251.3(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.3(MSH2):c.2084_2085del (p.Val695fs)
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe) rs63750398
NM_000251.3(MSH2):c.2091_2092del (p.Cys697_Glu698delinsTer)
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu) rs876658251
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.210_211insAGGGGCCGGCA (p.Gly71fs)
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.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.211G>T (p.Gly71Ter)
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.212-1G>T rs267607914
NM_000251.3(MSH2):c.212-1_221delinsCAC rs876660533
NM_000251.3(MSH2):c.212-478T>G rs587779138
NM_000251.3(MSH2):c.2121_2125del (p.Ile708fs)
NM_000251.3(MSH2):c.2126T>G (p.Leu709Ter)
NM_000251.3(MSH2):c.2128del (p.Ala710fs) rs1114167864
NM_000251.3(MSH2):c.2141del (p.Ala714fs)
NM_000251.3(MSH2):c.2148_2149del (p.Asp716fs)
NM_000251.3(MSH2):c.2148_2149dup (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.2167_2168del (p.Ser723fs)
NM_000251.3(MSH2):c.2169_2188dup (p.Leu730fs)
NM_000251.3(MSH2):c.2175_2185delinsG (p.Phe725fs)
NM_000251.3(MSH2):c.2175del (p.Phe725fs)
NM_000251.3(MSH2):c.217A>T (p.Lys73Ter) rs770110491
NM_000251.3(MSH2):c.217_227del (p.Lys73fs) rs1114167863
NM_000251.3(MSH2):c.2185del (p.Met729fs)
NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter) rs63749802
NM_000251.3(MSH2):c.21_22insGT (p.Thr8fs)
NM_000251.3(MSH2):c.2203_2207dup (p.Arg737fs)
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2211-2A>G rs267608001
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.2224_2236del (p.Asp742fs)
NM_000251.3(MSH2):c.2227dup (p.Ser743fs)
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.2231T>G (p.Leu744Ter) rs63750403
NM_000251.3(MSH2):c.2231_2252del (p.Ser743_Leu744insTer)
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del) rs587779142
NM_000251.3(MSH2):c.2236dup (p.Ile746fs) rs863225392
NM_000251.3(MSH2):c.2237dup (p.Ile747fs)
NM_000251.3(MSH2):c.2238del (p.Ile746_Ile747insTer) rs1667387473
NM_000251.3(MSH2):c.223_224del (p.Leu75fs) rs63750712
NM_000251.3(MSH2):c.2240_2241del (p.Ile747fs) rs63751036
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
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.2251G>A (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2251G>T (p.Gly751Ter)
NM_000251.3(MSH2):c.2252del (p.Gly751fs)
NM_000251.3(MSH2):c.2253_2283del (p.Gly751_Arg752insTer)
NM_000251.3(MSH2):c.2258del (p.Gly753fs)
NM_000251.3(MSH2):c.2263_2269del (p.Ser755fs)
NM_000251.3(MSH2):c.2263del (p.Ser755fs)
NM_000251.3(MSH2):c.2264_2265del (p.Ser755fs)
NM_000251.3(MSH2):c.2264del (p.Ser755fs)
NM_000251.3(MSH2):c.2265_2271del (p.Thr756fs)
NM_000251.3(MSH2):c.2267_2268insGTAG (p.Thr756_Tyr757insTer) rs1558521605
NM_000251.3(MSH2):c.2268del (p.Tyr757fs)
NM_000251.3(MSH2):c.2269dup (p.Tyr757fs) rs1114167824
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.3(MSH2):c.2270dup (p.Tyr757Ter)
NM_000251.3(MSH2):c.2272_2274delinsAG (p.Asp758fs)
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter) rs63749854
NM_000251.3(MSH2):c.2280del (p.Phe760fs) rs2104401876
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)
NM_000251.3(MSH2):c.2285T>G (p.Leu762Ter)
NM_000251.3(MSH2):c.2288del (p.Ala763fs)
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter) rs587779143
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter) rs63751105
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.3(MSH2):c.2297del (p.Ile766fs) rs863225394
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.2306dup (p.Tyr769Ter)
NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)
NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter) rs1573574086
NM_000251.3(MSH2):c.2311del (p.Ala771fs)
NM_000251.3(MSH2):c.2314del (p.Thr772fs) rs1114167862
NM_000251.3(MSH2):c.2317_2333del (p.Lys773fs)
NM_000251.3(MSH2):c.2318_2340del (p.Lys773fs)
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2320del (p.Ile774fs)
NM_000251.3(MSH2):c.2325dup (p.Ala776fs)
NM_000251.3(MSH2):c.2332del (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2332dup (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2333_2334delinsT (p.Cys778fs) rs1114167872
NM_000251.3(MSH2):c.2333dup (p.Cys778fs)
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2339_2340dup (p.Ala781fs)
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
NM_000251.3(MSH2):c.2346_2353del (p.Thr782_His783insTer)
NM_000251.3(MSH2):c.2352del (p.His785fs) rs1667395869
NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter) rs2104405386
NM_000251.3(MSH2):c.2358del (p.Glu786fs)
NM_000251.3(MSH2):c.2361dup (p.Thr788fs) rs63750803
NM_000251.3(MSH2):c.2362dup (p.Thr788fs) rs63750463
NM_000251.3(MSH2):c.2367del (p.Leu790fs) rs1667397201
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter) rs730881769
NM_000251.3(MSH2):c.237del (p.Ser81fs)
NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs) rs1114167832
NM_000251.3(MSH2):c.2381dup (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.2392_2396delinsG (p.Asn798fs)
NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs) rs1114167826
NM_000251.3(MSH2):c.2393del (p.Asn798fs)
NM_000251.3(MSH2):c.2396_2397del (p.Asn799fs)
NM_000251.3(MSH2):c.2396dup (p.Asn799fs)
NM_000251.3(MSH2):c.2398del (p.Leu800fs)
NM_000251.3(MSH2):c.2399del (p.Leu800fs)
NM_000251.3(MSH2):c.2402del (p.His801fs)
NM_000251.3(MSH2):c.2407dup (p.Thr803fs)
NM_000251.3(MSH2):c.2413dup (p.Leu805fs) rs1114167837
NM_000251.3(MSH2):c.2416dup (p.Thr806fs)
NM_000251.3(MSH2):c.2420del (p.Thr807fs)
NM_000251.3(MSH2):c.2421_2422delinsCT (p.Glu808Ter) rs1553369812
NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter) rs34986638
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2427_2428del (p.Glu809fs)
NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer)
NM_000251.3(MSH2):c.2434del (p.Thr812fs)
NM_000251.3(MSH2):c.2437_2438dup (p.Met813fs)
NM_000251.3(MSH2):c.2443_2445delinsAA (p.Tyr815fs)
NM_000251.3(MSH2):c.2443del (p.Tyr815fs)
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.2455A>T (p.Lys819Ter)
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2458+1G>T rs267608010
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2459-2A>C
NM_000251.3(MSH2):c.2459-2A>G rs267608011
NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs) rs1114167828
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.246_247delinsC (p.Lys82fs)
NM_000251.3(MSH2):c.246_247delinsT (p.Lys82fs)
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.3(MSH2):c.2474del (p.Ser825fs) rs1573578423
NM_000251.3(MSH2):c.2478del (p.Phe826fs)
NM_000251.3(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.2488del (p.Val830fs)
NM_000251.3(MSH2):c.2490del (p.Ala831fs)
NM_000251.3(MSH2):c.2491del (p.Ala831fs)
NM_000251.3(MSH2):c.2492_2493dup (p.Glu832fs)
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.2507del (p.Phe836fs) rs63750008
NM_000251.3(MSH2):c.251del (p.Asn84fs) rs786202037
NM_000251.3(MSH2):c.2520_2521del (p.Ile841fs)
NM_000251.3(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer) rs587779147
NM_000251.3(MSH2):c.2522_2523del (p.Ile841fs)
NM_000251.3(MSH2):c.2523_2527dup (p.Cys843Ter)
NM_000251.3(MSH2):c.2523dup (p.Glu842fs) rs1553370366
NM_000251.3(MSH2):c.2524G>T (p.Glu842Ter)
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.2534_2537del (p.Lys845fs)
NM_000251.3(MSH2):c.2535del (p.Lys845fs)
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter) rs63750857
NM_000251.3(MSH2):c.2539_2542del (p.Lys847fs) rs1667496297
NM_000251.3(MSH2):c.2540_2541del (p.Lys847fs)
NM_000251.3(MSH2):c.2544_2551del (p.Ala848_Leu849insTer)
NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs) rs1553370381
NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)
NM_000251.3(MSH2):c.2557G>T (p.Glu853Ter) rs1553370397
NM_000251.3(MSH2):c.2557dup (p.Glu853fs)
NM_000251.3(MSH2):c.255del (p.Phe85fs) 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.2563del (p.Gln855fs)
NM_000251.3(MSH2):c.256G>T (p.Glu86Ter)
NM_000251.3(MSH2):c.256del (p.Glu86fs)
NM_000251.3(MSH2):c.2573del (p.Gly858fs)
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.3(MSH2):c.2577del (p.Glu859fs)
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.2584G>T (p.Gly862Ter) rs876660297
NM_000251.3(MSH2):c.2585dup (p.Tyr863fs) rs1553370431
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.3(MSH2):c.2589T>A (p.Tyr863Ter)
NM_000251.3(MSH2):c.2593_2594del (p.Ile865fs)
NM_000251.3(MSH2):c.2593dup (p.Ile865fs) rs1553370443
NM_000251.3(MSH2):c.2597dup (p.Met866fs)
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)
NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter) rs1573579206
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>C rs876660546
NM_000251.3(MSH2):c.2634+2T>G rs876660546
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2635-1G>A rs267608020
NM_000251.3(MSH2):c.2635-1G>C rs267608020
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.3(MSH2):c.2640_2656del (p.Glu881fs) rs1064792951
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.2662del (p.Leu888fs) rs63751007
NM_000251.3(MSH2):c.2664del (p.Ser889fs)
NM_000251.3(MSH2):c.2668A>T (p.Lys890Ter) rs1114167880
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.26_39del (p.Leu9fs)
NM_000251.3(MSH2):c.270del (p.Asp91fs)
NM_000251.3(MSH2):c.274del (p.Leu92fs)
NM_000251.3(MSH2):c.276_277insA (p.Leu93fs)
NM_000251.3(MSH2):c.280del (p.Leu94fs)
NM_000251.3(MSH2):c.285_300del (p.Arg96fs)
NM_000251.3(MSH2):c.285dup (p.Arg96fs)
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.289del (p.Gln97fs) rs1114167808
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
NM_000251.3(MSH2):c.294_295del (p.Tyr98_Arg99delinsTer) rs1553350167
NM_000251.3(MSH2):c.296_308del (p.Arg99fs)
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter) rs63750318
NM_000251.3(MSH2):c.301del (p.Glu101fs)
NM_000251.3(MSH2):c.307del (p.Tyr103fs)
NM_000251.3(MSH2):c.308del (p.Tyr103fs)
NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)
NM_000251.3(MSH2):c.309del (p.Val102_Tyr103insTer) rs1114167874
NM_000251.3(MSH2):c.319delinsAATAAGGCATC (p.Ala107fs)
NM_000251.3(MSH2):c.321del (p.Gly108fs) rs1573436948
NM_000251.3(MSH2):c.322G>T (p.Gly108Ter)
NM_000251.3(MSH2):c.329_338del (p.Lys110fs)
NM_000251.3(MSH2):c.331dup (p.Ala111fs)
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.34dup (p.Glu12fs) rs63750614
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_364del (p.Tyr121_Lys122delinsTer)
NM_000251.3(MSH2):c.363_364dup (p.Lys122fs)
NM_000251.3(MSH2):c.365delinsCGG (p.Lys122fs) rs1114167829
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.370del (p.Ser124fs)
NM_000251.3(MSH2):c.374del (p.Pro125fs)
NM_000251.3(MSH2):c.376_385delinsCA (p.Gly126fs)
NM_000251.3(MSH2):c.377del (p.Gly126fs) rs2104017390
NM_000251.3(MSH2):c.379_380del (p.Asn127fs)
NM_000251.3(MSH2):c.380del (p.Asn127fs)
NM_000251.3(MSH2):c.380dup (p.Asn127fs) rs1558458884
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.393_435dup (p.Gly146Ter)
NM_000251.3(MSH2):c.394G>T (p.Glu132Ter)
NM_000251.3(MSH2):c.394_395insTT (p.Glu132fs)
NM_000251.3(MSH2):c.400_401del (p.Ile134fs)
NM_000251.3(MSH2):c.408del (p.Phe136fs) rs63750408
NM_000251.3(MSH2):c.416del (p.Asn139fs) rs63750401
NM_000251.3(MSH2):c.420_421insTT (p.Met141fs)
NM_000251.3(MSH2):c.420dup (p.Met141fs) rs1114167810
NM_000251.3(MSH2):c.421_422del (p.Met141fs) rs1553350680
NM_000251.3(MSH2):c.422_425dup (p.Ala143fs)
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.425dup (p.Ala143fs)
NM_000251.3(MSH2):c.440_444dup (p.Gly149fs)
NM_000251.3(MSH2):c.441del (p.Val148fs)
NM_000251.3(MSH2):c.443del (p.Val148fs) rs1553350721
NM_000251.3(MSH2):c.446_470dup (p.Gly157_Gln158insCysTer)
NM_000251.3(MSH2):c.448_452del (p.Val150fs)
NM_000251.3(MSH2):c.454dup (p.Met152fs) rs63751449
NM_000251.3(MSH2):c.464_474del (p.Val155fs)
NM_000251.3(MSH2):c.465_466delinsA (p.Asp156fs) rs1114167884
NM_000251.3(MSH2):c.465dup (p.Asp156Ter)
NM_000251.3(MSH2):c.466del (p.Asp156fs) rs1573440880
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter) rs63751226
NM_000251.3(MSH2):c.474del (p.Arg159fs)
NM_000251.3(MSH2):c.475_481del (p.Arg159fs)
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.47_60del (p.Glu16fs)
NM_000251.3(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.3(MSH2):c.483del (p.Gly162fs)
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.484G>T (p.Gly162Ter)
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.490G>C (p.Gly164Arg)
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.3(MSH2):c.491delinsAT (p.Gly164fs)
NM_000251.3(MSH2):c.492del (p.Tyr165fs)
NM_000251.3(MSH2):c.494del (p.Tyr165fs)
NM_000251.3(MSH2):c.495T>A (p.Tyr165Ter)
NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter) rs63749949
NM_000251.3(MSH2):c.497dup (p.Asp167fs)
NM_000251.3(MSH2):c.501_502del (p.Ser168fs)
NM_000251.3(MSH2):c.502del (p.Ser168fs)
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.512_513insAT (p.Arg171_Lys172insTer)
NM_000251.3(MSH2):c.516del (p.Lys172fs)
NM_000251.3(MSH2):c.51_61del (p.Gly18fs)
NM_000251.3(MSH2):c.520G>T (p.Gly174Ter)
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
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.529G>T (p.Glu177Ter) rs63750382
NM_000251.3(MSH2):c.530_533delinsTTC (p.Glu177fs)
NM_000251.3(MSH2):c.534_547del (p.Phe178fs)
NM_000251.3(MSH2):c.535_536del (p.Phe178_Pro179insTer) rs1114167812
NM_000251.3(MSH2):c.536del (p.Pro179fs) rs1114167812
NM_000251.3(MSH2):c.540_541del (p.Asp180fs)
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter) rs63750037
NM_000251.3(MSH2):c.547del (p.Gln183fs)
NM_000251.3(MSH2):c.549_550del (p.Gln183fs)
NM_000251.3(MSH2):c.54_55insG (p.Phe19fs)
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg) rs63751444
NM_000251.3(MSH2):c.562G>T (p.Glu188Ter)
NM_000251.3(MSH2):c.563del (p.Glu188fs) rs1114167885
NM_000251.3(MSH2):c.565_566dup (p.Leu191fs) rs1114167855
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.3(MSH2):c.582dup (p.Gly195fs)
NM_000251.3(MSH2):c.583G>T (p.Gly195Ter)
NM_000251.3(MSH2):c.587del (p.Pro196fs) rs63750682
NM_000251.3(MSH2):c.590del (p.Lys197fs) rs2104035729
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.3(MSH2):c.592dup (p.Glu198fs) rs63750786
NM_000251.3(MSH2):c.595T>C (p.Cys199Arg) rs63751110
NM_000251.3(MSH2):c.598_599del (p.Val200fs)
NM_000251.3(MSH2):c.598_599dup (p.Leu201fs)
NM_000251.3(MSH2):c.599_600insAT (p.Leu201fs)
NM_000251.3(MSH2):c.602T>A (p.Leu201Ter) rs1114167839
NM_000251.3(MSH2):c.608_619GAG[2]AGACTGGGTGAGGAGAGACTG[1] (p.Ala207delinsGlyTer)
NM_000251.3(MSH2):c.608_620delinsAGGAA (p.Gly203fs)
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.3(MSH2):c.613G>T (p.Glu205Ter) rs63749984
NM_000251.3(MSH2):c.613del (p.Glu205fs)
NM_000251.3(MSH2):c.622G>T (p.Gly208Ter)
NM_000251.3(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.3(MSH2):c.629del (p.Met210fs)
NM_000251.3(MSH2):c.633del (p.Lys212fs) rs1114167821
NM_000251.3(MSH2):c.634A>T (p.Lys212Ter)
NM_000251.3(MSH2):c.636dup (p.Leu213fs) rs1573442039
NM_000251.3(MSH2):c.638_639del (p.Leu213fs) rs63751622
NM_000251.3(MSH2):c.638del (p.Leu213fs)
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.643del (p.Gln215fs) rs1558459882
NM_000251.3(MSH2):c.645+1G>A rs267607689
NM_000251.3(MSH2):c.645+1G>C rs267607689
NM_000251.3(MSH2):c.645+1G>T rs267607689
NM_000251.3(MSH2):c.645+2T>G rs876658996
NM_000251.3(MSH2):c.646-1G>A
NM_000251.3(MSH2):c.646-1G>C rs1114167888
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.646-4_655del rs1114167851
NM_000251.3(MSH2):c.647_648insTG (p.Ile217fs)
NM_000251.3(MSH2):c.647del (p.Ile216fs)
NM_000251.3(MSH2):c.647dup (p.Ile217fs)
NM_000251.3(MSH2):c.648_649dup (p.Ile217fs)
NM_000251.3(MSH2):c.650_654del (p.Ile217fs) rs63751602
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.3(MSH2):c.655A>T (p.Arg219Ter)
NM_000251.3(MSH2):c.655dup (p.Arg219fs) rs1558461615
NM_000251.3(MSH2):c.657_658del (p.Gly220fs)
NM_000251.3(MSH2):c.657del (p.Gly220fs)
NM_000251.3(MSH2):c.658G>T (p.Gly220Ter)
NM_000251.3(MSH2):c.676G>T (p.Glu226Ter)
NM_000251.3(MSH2):c.680_681del (p.Arg227fs) rs1558461683
NM_000251.3(MSH2):c.680_683del (p.Arg227fs) rs587782537
NM_000251.3(MSH2):c.680del (p.Arg227fs)
NM_000251.3(MSH2):c.681_682delinsC (p.Arg227fs)
NM_000251.3(MSH2):c.681_689delinsGAAAAAGG (p.Ala230fs)
NM_000251.3(MSH2):c.684_687del (p.Lys229fs)
NM_000251.3(MSH2):c.686_687del (p.Lys229fs) rs63749897
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs) rs63750364
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.689del (p.Ala230fs)
NM_000251.3(MSH2):c.68_69del (p.Phe23fs)
NM_000251.3(MSH2):c.696_697del (p.Ser233fs) rs63750426
NM_000251.3(MSH2):c.697del (p.Ser233fs) rs63750426
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.709del (p.Ile237fs)
NM_000251.3(MSH2):c.710_715delinsAAAGGTTCCACAAA (p.Ile237fs)
NM_000251.3(MSH2):c.710_716del (p.Ile237fs) rs1114167807
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.71_80dup (p.Glu28fs)
NM_000251.3(MSH2):c.721del (p.Leu241fs) rs1573446832
NM_000251.3(MSH2):c.723del (p.Asn242fs)
NM_000251.3(MSH2):c.727del (p.Arg243fs)
NM_000251.3(MSH2):c.729dup (p.Leu244fs) rs1553351651
NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)
NM_000251.3(MSH2):c.731del (p.Leu244fs) rs876660655
NM_000251.3(MSH2):c.742A>T (p.Lys248Ter)
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.749del (p.Gly250fs)
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter) rs63750347
NM_000251.3(MSH2):c.759del (p.Met253fs) rs63751160
NM_000251.3(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.3(MSH2):c.761dup (p.Asn254fs)
NM_000251.3(MSH2):c.763del (p.Ser255fs)
NM_000251.3(MSH2):c.764_776del (p.Ser255fs)
NM_000251.3(MSH2):c.764del (p.Ser255fs)
NM_000251.3(MSH2):c.765dup (p.Ala256fs)
NM_000251.3(MSH2):c.770_786del (p.Val257fs)
NM_000251.3(MSH2):c.778_780delinsTT (p.Glu260fs)
NM_000251.3(MSH2):c.782_783insA (p.Met261fs) rs786204144
NM_000251.3(MSH2):c.784G>T (p.Glu262Ter)
NM_000251.3(MSH2):c.789del (p.Gln264fs)
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.3(MSH2):c.790dup (p.Gln264fs) rs1114167814
NM_000251.3(MSH2):c.792+1G>A rs267607934
NM_000251.3(MSH2):c.792+1_792+2inv
NM_000251.3(MSH2):c.792+1del rs1064794155
NM_000251.3(MSH2):c.792+2T>G rs587782408
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-2A>T
NM_000251.3(MSH2):c.796_797del (p.Ala266fs)
NM_000251.3(MSH2):c.7del (p.Val3fs)
NM_000251.3(MSH2):c.802_839del (p.Ser268fs)
NM_000251.3(MSH2):c.802del (p.Ser268fs)
NM_000251.3(MSH2):c.802dup (p.Ser268fs)
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter) rs563410947
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.3(MSH2):c.806C>G (p.Ser269Ter)
NM_000251.3(MSH2):c.806_807insTGTACCGCAGATT (p.Leu270fs) rs1064793863
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro) rs1573451078
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.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.830del (p.Phe276_Leu277insTer) rs2104168299
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter) rs1558464008
NM_000251.3(MSH2):c.839T>A (p.Leu280Ter)
NM_000251.3(MSH2):c.839del (p.Leu280fs) rs63750091
NM_000251.3(MSH2):c.839dup (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.842_942+89del
NM_000251.3(MSH2):c.843_844insT (p.Asp282Ter)
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.850dup (p.Ser284fs) rs1114167860
NM_000251.3(MSH2):c.857_858del (p.Phe286fs)
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter) rs63750276
NM_000251.3(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs) rs1672951706
NM_000251.3(MSH2):c.867dup (p.Glu290Ter)
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000251.3(MSH2):c.868_869del (p.Glu290fs)
NM_000251.3(MSH2):c.870_874del (p.Glu290fs) rs1114167848
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.873del (p.Thr292fs)
NM_000251.3(MSH2):c.874_875del (p.Thr292fs) rs1573451595
NM_000251.3(MSH2):c.876dup (p.Thr293fs) rs1553352505
NM_000251.3(MSH2):c.879delinsGTA (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.887del (p.Phe296fs)
NM_000251.3(MSH2):c.888del (p.Phe296fs) rs587779192
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.901A>T (p.Lys301Ter) rs63749915
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.3(MSH2):c.908del (p.Asp303fs)
NM_000251.3(MSH2):c.913dup (p.Ala305fs) rs786203604
NM_000251.3(MSH2):c.917_918del (p.Ala306fs)
NM_000251.3(MSH2):c.924_925del (p.Arg308fs)
NM_000251.3(MSH2):c.924_925dup (p.Ala309fs)
NM_000251.3(MSH2):c.928_934del (p.Leu310fs)
NM_000251.3(MSH2):c.928del (p.Asn311fs) rs1064793179
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000251.3(MSH2):c.929_930insA (p.Leu310_Asn311insTer)
NM_000251.3(MSH2):c.92_93insTGGT (p.Thr32fs)
NM_000251.3(MSH2):c.930del (p.Asn311fs)
NM_000251.3(MSH2):c.932_933insGA (p.Asn311fs)
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.933_934insAA (p.Leu312fs)
NM_000251.3(MSH2):c.934_938dup (p.Gln314fs)
NM_000251.3(MSH2):c.939del (p.Gln314fs) rs796532309
NM_000251.3(MSH2):c.939dup (p.Gln314fs)
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
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+2_942+11del
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.944del (p.Gly315Valfs) rs1673064965
NM_000251.3(MSH2):c.946_961del (p.Ser316fs)
NM_000251.3(MSH2):c.946del (p.Ser316fs)
NM_000251.3(MSH2):c.948dup (p.Val317fs)
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
NM_000251.3(MSH2):c.955_958del (p.Asp319fs)
NM_000251.3(MSH2):c.957_958del (p.Thr320fs)
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.960del (p.Thr321fs)
NM_000251.3(MSH2):c.963del (p.Gly322fs)
NM_000251.3(MSH2):c.965del (p.Gly322fs) rs2104243932
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.970_977del (p.Gln324fs)
NM_000251.3(MSH2):c.971dup (p.Ser325fs)
NM_000251.3(MSH2):c.979_982del (p.Ala327fs)
NM_000251.3(MSH2):c.986T>A (p.Leu329Ter)
NM_000251.3(MSH2):c.989dup (p.Asn331fs) rs1114167813
NM_000251.3(MSH2):c.98del (p.Thr33fs) rs1573423412
NM_000251.3(MSH2):c.992del (p.Asn331fs)
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.3(MSH2):c.998_999del (p.Lys332_Cys333insTer) rs2104247018
NM_000251.3(MSH2):c.998del (p.Cys333fs)
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp) rs1553353167
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1021_1028del (p.Tyr340_Gly341insTer)
NM_000256.3(MYBPC3):c.1049del (p.Lys350fs)
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs)
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1091-2A>C
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs) rs1555122462
NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs) rs730880688
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_000256.3(MYBPC3):c.1235_1236delTT rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter) rs730880533
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs) rs2142861729
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1308C>A (p.Cys436Ter)
NM_000256.3(MYBPC3):c.1316del (p.Gly439fs) rs730880710
NM_000256.3(MYBPC3):c.1350del (p.Glu451fs)
NM_000256.3(MYBPC3):c.1351+1G>C rs727503204
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) rs786204338
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1404delG rs886037900
NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter) rs730880539
NM_000256.3(MYBPC3):c.1428_1431del (p.Glu476fs)
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter) rs730880541
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) rs730880542
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter) rs1057517920
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483del (p.Arg495fs) rs1555122196
NM_000256.3(MYBPC3):c.1531del (p.His511fs)
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) rs1555122156
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1595_1596delinsT (p.Gly532fs)
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1597C>T (p.Gln533Ter)
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1711G>T (p.Glu571Ter)
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1754_1755dup (p.Pro586fs)
NM_000256.3(MYBPC3):c.1755_1756del (p.Pro586fs)
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs) rs764743402
NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs) rs1555121907
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) rs730880555
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) rs1565627110
NM_000256.3(MYBPC3):c.1900del (p.Val634fs) rs2142859074
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter) rs1555121871
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
NM_000256.3(MYBPC3):c.1960_1971delinsT (p.Arg654fs)
NM_000256.3(MYBPC3):c.2015del (p.Pro672fs)
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2079_2085del (p.Pro694fs)
NM_000256.3(MYBPC3):c.2082_2086del (p.Arg696fs)
NM_000256.3(MYBPC3):c.2105dup (p.Glu703fs)
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2133G>A (p.Trp711Ter)
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter) rs886039028
NM_000256.3(MYBPC3):c.2214del (p.Glu739fs)
NM_000256.3(MYBPC3):c.2221del (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.230del (p.Gly77fs)
NM_000256.3(MYBPC3):c.2310del (p.Asp770fs) rs1555121331
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2359_2366del (p.Cys788fs)
NM_000256.3(MYBPC3):c.2364C>A (p.Cys788Ter)
NM_000256.3(MYBPC3):c.236dup (p.Tyr79Ter) rs1057517939
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2375G>A (p.Trp792Ter)
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2401C>T (p.Gln801Ter)
NM_000256.3(MYBPC3):c.2445_2446insGGTA (p.Tyr816fs)
NM_000256.3(MYBPC3):c.2451del (p.Trp818fs) rs1555121247
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
NM_000256.3(MYBPC3):c.2503del (p.Arg835fs)
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2519_2521delinsCA (p.Val840fs)
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs) rs1555120956
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs) rs863225104
NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs) rs1555120927
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2749del (p.Val917fs) rs2142853029
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2807del (p.Thr936fs)
NM_000256.3(MYBPC3):c.2825del (p.Phe942fs)
NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs) rs2142852888
NM_000256.3(MYBPC3):c.2869dup (p.Thr957fs) rs876661365
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2946del (p.Ile983fs)
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs)
NM_000256.3(MYBPC3):c.2990del (p.Phe997fs)
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) rs11570112
NM_000256.3(MYBPC3):c.29C>A (p.Ser10Ter)
NM_000256.3(MYBPC3):c.3066dup (p.Asn1023fs)
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3208C>T (p.Gln1070Ter)
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3240dup (p.Asn1081Ter)
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs) rs730880670
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) rs2142850736
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3369_3370insA (p.Cys1124fs)
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3448dup (p.Arg1150fs)
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs)
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3491-1G>A
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3607_3611dup (p.Arg1205fs)
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3658_3667del (p.Asp1220fs)
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) rs730880598
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer)
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs) rs2142849399
NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs) rs863225272
NM_000256.3(MYBPC3):c.3720dup (p.Arg1241Ter)
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3746dup (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3747dup (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.379dup (p.Leu127fs)
NM_000256.3(MYBPC3):c.385G>T (p.Glu129Ter)
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs) rs1555123597
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) rs730880703
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.505_505+7del rs1555123473
NM_000256.3(MYBPC3):c.528_532del (p.Arg177fs)
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.577A>T (p.Lys193Ter)
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC (p.Lys218delinsSerTrpTer)
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter) rs1555123138
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.775del (p.Ala259fs)
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter) rs373730381
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.862G>T (p.Glu288Ter)
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter) rs2142864321
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1955G>A (p.Arg652Lys)
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2150A>C (p.Asp717Ala)
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.1608_1609dup (p.Phe537fs)
NM_000263.4(NAGLU):c.886del (p.Leu296fs) rs752131463
NM_000264.3(PTCH1):c.3450delG rs1131691001
NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs) rs1554699612
NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter)
NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter) rs1131690970
NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer) rs1131691002
NM_000264.5(PTCH1):c.1136_1137del (p.Gly378_Tyr379insTer)
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter) rs1588605348
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter) rs1432645175
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)
NM_000264.5(PTCH1):c.1334del (p.Gly445fs) rs1131690978
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs) rs1588602354
NM_000264.5(PTCH1):c.1350del (p.Ala451fs) rs1588601051
NM_000264.5(PTCH1):c.1355del (p.Tyr452fs)
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter) rs1131690974
NM_000264.5(PTCH1):c.1504-2A>C rs1131690984
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp) rs1060502268
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.1603-2A>C rs1064793921
NM_000264.5(PTCH1):c.1694_1697del (p.Ile565fs)
NM_000264.5(PTCH1):c.1755dup (p.Ala586fs)
NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter) rs863224650
NM_000264.5(PTCH1):c.1842del (p.Phe614fs) rs1131690991
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly) rs1131690983
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.5(PTCH1):c.1925dup (p.Pro643fs)
NM_000264.5(PTCH1):c.2011del (p.His671fs)
NM_000264.5(PTCH1):c.202-2A>C rs878853849
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2028C>A (p.Tyr676Ter)
NM_000264.5(PTCH1):c.2056_2080dup (p.Gln694fs)
NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter) rs1554695039
NM_000264.5(PTCH1):c.2105_2106del (p.Pro702fs) rs1840290349
NM_000264.5(PTCH1):c.2140C>T (p.Gln714Ter)
NM_000264.5(PTCH1):c.2144dup (p.Ser716fs)
NM_000264.5(PTCH1):c.2178dup (p.Cys727fs) rs2118030407
NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter) rs1131690992
NM_000264.5(PTCH1):c.2197_2198del (p.Ser733fs) rs1060502292
NM_000264.5(PTCH1):c.2251-2A>G rs2117976305
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter) rs1554708787
NM_000264.5(PTCH1):c.2435_2438del (p.Asp811_Tyr812insTer) rs2117958655
NM_000264.5(PTCH1):c.2460C>A (p.Tyr820Ter) rs766227557
NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs) rs863225467
NM_000264.5(PTCH1):c.2560+1G>T
NM_000264.5(PTCH1):c.2566C>T (p.Gln856Ter)
NM_000264.5(PTCH1):c.2585dup (p.Asp862fs)
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2598del (p.Ile868fs) rs1131690975
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs) rs2118879343
NM_000264.5(PTCH1):c.2679dup (p.Asp894fs)
NM_000264.5(PTCH1):c.2680_2683delinsCC (p.Asp894fs)
NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs) rs1131690972
NM_000264.5(PTCH1):c.278_282del (p.Tyr93fs)
NM_000264.5(PTCH1):c.2794del (p.Val932fs) rs1131690997
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer) rs1554708753
NM_000264.5(PTCH1):c.2822del (p.Ile941fs)
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter) rs1587693508
NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs) rs863224485
NM_000264.5(PTCH1):c.2872del (p.Glu958fs)
NM_000264.5(PTCH1):c.2929del (p.Tyr977fs)
NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter) rs1131690968
NM_000264.5(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter) rs747234651
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter) rs1554691359
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer) rs1131690980
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs) rs1588539623
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter) rs1060502301
NM_000264.5(PTCH1):c.3250dup (p.Val1084fs) rs1588535611
NM_000264.5(PTCH1):c.3264_3273del (p.Ala1088_Ser1089insTer)
NM_000264.5(PTCH1):c.3298_3306+3del
NM_000264.5(PTCH1):c.331dup (p.Ala111fs)
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) rs1060502273
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.5(PTCH1):c.3459del (p.Phe1153fs) rs1131690976
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
NM_000264.5(PTCH1):c.371_387del (p.Asn124fs) rs1554708626
NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter) rs2118873472
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.401dup (p.Arg135fs)
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.445G>T (p.Glu149Ter)
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter) rs1344258746
NM_000264.5(PTCH1):c.454_455del (p.Met152fs) rs1060502280
NM_000264.5(PTCH1):c.456del (p.Met152fs)
NM_000264.5(PTCH1):c.482_491del (p.Thr161fs) rs1131690981
NM_000264.5(PTCH1):c.497del (p.Gly166fs)
NM_000264.5(PTCH1):c.585-15_586del
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
NM_000264.5(PTCH1):c.613A>T (p.Lys205Ter)
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.5(PTCH1):c.665_666del (p.Tyr222fs) rs1131690993
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter) rs1588614178
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.715dup (p.Ala239fs) rs1131690971
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter) rs1060502281
NM_000264.5(PTCH1):c.746+1G>C rs1131690994
NM_000264.5(PTCH1):c.805_806dup (p.Lys270fs)
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer) rs1131690969
NM_000264.5(PTCH1):c.877_887del (p.Asp293fs) rs1131690973
NM_000264.5(PTCH1):c.886del (p.Cys296fs) rs1131690987
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
NM_000264.5(PTCH1):c.945+1G>A rs863224444
NM_000264.5(PTCH1):c.945+2T>C rs1131690979
NM_000264.5(PTCH1):c.954dup (p.Met319fs)
NM_000267.3(NF1):c.1393_1394delAG rs1597698310
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.3199_3200delGA
NM_000267.3(NF1):c.4111delG
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
NM_000267.3:c.5845_5846insALU
NM_000267.3:c.6130_6131insALU
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1029_1050del (p.Lys343fs)
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000268.4(NF2):c.1282C>T (p.Gln428Ter)
NM_000268.4(NF2):c.1327G>T (p.Glu443Ter)
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1463del (p.Pro488fs)
NM_000268.4(NF2):c.1507del (p.Asp503fs)
NM_000268.4(NF2):c.1575-1G>C
NM_000268.4(NF2):c.1575-2A>G rs2067131272
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter) rs2147122581
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter) rs2147122623
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.1737+1G>T rs1556003799
NM_000268.4(NF2):c.200_201del (p.Thr67fs)
NM_000268.4(NF2):c.465dup (p.Ser156fs)
NM_000268.4(NF2):c.478dup (p.Arg160fs)
NM_000268.4(NF2):c.493del (p.Gln165fs)
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.531T>G (p.Tyr177Ter)
NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000268.4(NF2):c.610G>T (p.Glu204Ter)
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.663C>G (p.Tyr221Ter) rs2146990737
NM_000268.4(NF2):c.675+1G>T
NM_000268.4(NF2):c.745A>T (p.Arg249Ter)
NM_000268.4(NF2):c.756del (p.Lys253fs)
NM_000268.4(NF2):c.817del (p.Ile273fs)
NM_000268.4(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.4(NF2):c.970C>T (p.Gln324Ter)
NM_000268.4(NF2):c.979G>T (p.Glu327Ter)
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter) rs2145370569
NM_000273.3(GPR143):c.13C>T (p.Arg5Cys) rs62635289
NM_000273.3(GPR143):c.768-1G>A rs1555914303
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) rs774822330
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000278.5(PAX2):c.890C>G (p.Ser297Ter) rs1554865146
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.735A>C (p.Arg245Ser) rs1555934376
NM_000284.4(PDHA1):c.832-1G>A rs1555934843
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.948_964dup (p.Asp322fs) rs2063232730
NM_000284.4(PDHA1):c.966_970del (p.Arg323fs)
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000292.3(PHKA2):c.1459G>T (p.Gly487Ter)
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter) rs146396414
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) rs1726231891
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000302.4(PLOD1):c.1790del (p.Pro597fs)
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
NM_000308.4(CTSA):c.990del (p.Cys331fs)
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) rs11538758
NM_000311.5(PRNP):c.350C>T (p.Ala117Val) rs74315402
NM_000314.4:c.419_420insALU
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-1G>C rs1057517809
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1030A>T (p.Lys344Ter)
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg) rs786202517
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.110_111del (p.Phe37fs) rs1114167636
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs) rs1554826049
NM_000314.8(PTEN):c.1212A>C (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.127G>T (p.Glu43Ter) rs1554893808
NM_000314.8(PTEN):c.127dup (p.Glu43fs) rs1554893810
NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs) rs786202894
NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter) rs1114167672
NM_000314.8(PTEN):c.138C>G (p.Tyr46Ter)
NM_000314.8(PTEN):c.139A>G (p.Arg47Gly) rs786204855
NM_000314.8(PTEN):c.141del (p.Asn48fs) rs1114167670
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.161dup (p.Arg55fs)
NM_000314.8(PTEN):c.163del (p.Arg55fs)
NM_000314.8(PTEN):c.164+1G>A rs1554893835
NM_000314.8(PTEN):c.164+1G>C rs1554893835
NM_000314.8(PTEN):c.164+1G>T rs1554893835
NM_000314.8(PTEN):c.164+1_164+5del rs1859100502
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.165-2A>T
NM_000314.8(PTEN):c.165-3_165del rs1554897249
NM_000314.8(PTEN):c.166_167delinsA (p.Phe56fs) rs1114167681
NM_000314.8(PTEN):c.170del (p.Leu57fs)
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter) rs1554897262
NM_000314.8(PTEN):c.179del (p.Lys60fs) rs1114167671
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.18dup (p.Glu7fs) rs121913290
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.195del (p.His64_Tyr65insTer) rs1589640495
NM_000314.8(PTEN):c.199del (p.Ile67fs) rs1114167669
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.206del (p.Asn69fs)
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+1G>C
NM_000314.8(PTEN):c.209+1G>T rs1554897280
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.20_23dup (p.Val9fs)
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.218_221delinsTCA (p.Glu73fs)
NM_000314.8(PTEN):c.219_220dup (p.Arg74fs) rs1114167677
NM_000314.8(PTEN):c.219_253+46del
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.220A>T (p.Arg74Ter) rs1554897861
NM_000314.8(PTEN):c.226del (p.Tyr76fs) rs1564828960
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
NM_000314.8(PTEN):c.247del (p.Cys83fs)
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.253+1dup rs876660082
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.261del (p.Gln87fs) rs1114167637
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.8(PTEN):c.270del (p.Phe90fs) rs1114167678
NM_000314.8(PTEN):c.270dup (p.Glu91Ter) rs1114167678
NM_000314.8(PTEN):c.271del (p.Glu91fs) rs1114167668
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
NM_000314.8(PTEN):c.277del (p.His93fs)
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.285_286insAA (p.Pro96fs) rs1554898073
NM_000314.8(PTEN):c.296_297del (p.Glu99fs)
NM_000314.8(PTEN):c.301_311del (p.Ile101fs) rs1589646106
NM_000314.8(PTEN):c.301dup (p.Ile101fs) rs1554898084
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.315del (p.Cys105fs) rs1114167626
NM_000314.8(PTEN):c.315dup (p.Glu106Ter) rs1554898091
NM_000314.8(PTEN):c.31del (p.Arg11fs)
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.330_331insG (p.Trp111fs)
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.332_336delinsCTTCAC (p.Trp111fs)
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter) rs1554898097
NM_000314.8(PTEN):c.364dup (p.Ile122fs)
NM_000314.8(PTEN):c.36del (p.Asn12fs)
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370del (p.Cys124fs) rs1554898123
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.376_377del (p.Ala126fs) rs1114167659
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386G>T (p.Gly129Val) rs121909218
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.392del (p.Thr131fs)
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.39_40insT (p.Arg14Ter)
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.405dup (p.Cys136fs) rs398123323
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.407G>T (p.Cys136Phe)
NM_000314.8(PTEN):c.40del (p.Arg14fs)
NM_000314.8(PTEN):c.415_416del (p.Leu139fs)
NM_000314.8(PTEN):c.416del (p.Leu139fs) rs1554898163
NM_000314.8(PTEN):c.420dup (p.His141fs) rs1085308050
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.42del (p.Arg15fs) rs786202786
NM_000314.8(PTEN):c.432del (p.Lys144fs) rs1114167657
NM_000314.8(PTEN):c.432dup (p.Phe145fs)
NM_000314.8(PTEN):c.437T>A (p.Leu146Ter) rs786204933
NM_000314.8(PTEN):c.437T>G (p.Leu146Ter) rs786204933
NM_000314.8(PTEN):c.437del (p.Phe145_Leu146insTer) rs1114167627
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs) rs1114167641
NM_000314.8(PTEN):c.442dup (p.Ala148fs)
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.447dup (p.Glu150fs)
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) rs786204934
NM_000314.8(PTEN):c.44_45del (p.Arg15fs) rs1057524874
NM_000314.8(PTEN):c.44_56del (p.Arg15fs)
NM_000314.8(PTEN):c.451del (p.Ala151fs)
NM_000314.8(PTEN):c.458_461del (p.Asp153fs) rs876658304
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.461del (p.Phe154fs)
NM_000314.8(PTEN):c.463T>C (p.Tyr155His) rs398123325
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter) rs1554898206
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.8(PTEN):c.469del (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.469dup (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.46dup (p.Tyr16fs) rs786204883
NM_000314.8(PTEN):c.472delinsAT (p.Val158fs)
NM_000314.8(PTEN):c.483del (p.Asp162fs)
NM_000314.8(PTEN):c.485_487delinsCC (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.486del (p.Asp162fs)
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.48_49delinsAT (p.Tyr16_Gln17delinsTer)
NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.493-1G>C rs786204862
NM_000314.8(PTEN):c.493-1G>T rs786204862
NM_000314.8(PTEN):c.493-20_497del
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493-6_511del
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.497_501dup (p.Ile168Ter)
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.502_503del (p.Ile168fs) rs2132268956
NM_000314.8(PTEN):c.502del (p.Ile168fs) rs1114167631
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
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.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.512_515del (p.Gln171fs) rs1114167635
NM_000314.8(PTEN):c.512dup (p.Arg172fs) rs1114167632
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.8(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.522T>A (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter) rs878853012
NM_000314.8(PTEN):c.53del (p.Glu18fs) rs878853940
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter) rs786202733
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.545T>A (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.548del (p.Lys183fs) rs1554900593
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.549_550dup (p.Asn184fs) rs1554900599
NM_000314.8(PTEN):c.553dup (p.His185fs)
NM_000314.8(PTEN):c.556_557del (p.Leu186fs) rs1114167652
NM_000314.8(PTEN):c.564T>G (p.Tyr188Ter) rs606231170
NM_000314.8(PTEN):c.569_572dup (p.Ala192fs)
NM_000314.8(PTEN):c.569del (p.Pro190fs)
NM_000314.8(PTEN):c.569dup (p.Val191fs)
NM_000314.8(PTEN):c.585dup (p.His196fs) rs786204901
NM_000314.8(PTEN):c.586dup (p.His196fs)
NM_000314.8(PTEN):c.591_614delinsTA (p.Lys197fs)
NM_000314.8(PTEN):c.617del (p.Phe206fs)
NM_000314.8(PTEN):c.621_622insACTG (p.Gly208fs)
NM_000314.8(PTEN):c.632dup (p.Cys211fs) rs1114167663
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.634+1G>A rs1114167622
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.634+1G>T rs1114167622
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+2T>G rs727504114
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.634_634+1del
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.641dup (p.Phe215fs) rs2132276426
NM_000314.8(PTEN):c.646del (p.Val216fs) rs1554825160
NM_000314.8(PTEN):c.651del (p.Cys218fs)
NM_000314.8(PTEN):c.662del (p.Lys221fs)
NM_000314.8(PTEN):c.672_675del (p.Tyr225fs)
NM_000314.8(PTEN):c.672dup (p.Tyr225fs) rs2132276683
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter) rs1214965807
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter) rs1589596407
NM_000314.8(PTEN):c.693del (p.Thr232fs) rs1554825189
NM_000314.8(PTEN):c.696dup (p.Arg233fs)
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.706dup (p.Asp236fs) rs786202529
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.710dup (p.Phe238fs)
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.720del (p.Phe241fs) rs1589663374
NM_000314.8(PTEN):c.722_723del (p.Tyr240_Phe241insTer)
NM_000314.8(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.8(PTEN):c.727_730dup (p.Pro244fs)
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.738_739dup (p.Leu247fs) rs1589663442
NM_000314.8(PTEN):c.740T>A (p.Leu247Ter) rs1057519368
NM_000314.8(PTEN):c.740T>G (p.Leu247Ter) rs1057519368
NM_000314.8(PTEN):c.740del (p.Leu247fs) rs1114167662
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.74T>C (p.Leu25Ser) rs786204912
NM_000314.8(PTEN):c.74dup (p.Leu25fs) rs1114167653
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter) rs767623493
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.757dup (p.Ile253fs) rs1114167661
NM_000314.8(PTEN):c.758_765del (p.Ile253fs)
NM_000314.8(PTEN):c.760A>T (p.Lys254Ter)
NM_000314.8(PTEN):c.763_764dup (p.Val255_Glu256insTer)
NM_000314.8(PTEN):c.772_773del (p.Phe258fs) rs587781354
NM_000314.8(PTEN):c.780del (p.Lys260fs)
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.783_784del (p.Asn262fs) rs1554825249
NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)
NM_000314.8(PTEN):c.788del (p.Lys263fs)
NM_000314.8(PTEN):c.790dup (p.Met264fs)
NM_000314.8(PTEN):c.791_792dup (p.Leu265fs) rs1114167646
NM_000314.8(PTEN):c.795_801+1del rs1589663644
NM_000314.8(PTEN):c.796A>T (p.Lys266Ter) rs1554825260
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000314.8(PTEN):c.801+2T>A rs1114167665
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-1G>T rs1257124719
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.813del (p.His272fs) rs1114167634
NM_000314.8(PTEN):c.81_82insCT (p.Ile28fs) rs786203477
NM_000314.8(PTEN):c.821G>A (p.Trp274Ter) rs786204875
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.8(PTEN):c.829del (p.Thr277fs)
NM_000314.8(PTEN):c.829dup (p.Thr277fs) rs1589665640
NM_000314.8(PTEN):c.837dup (p.Ile280fs)
NM_000314.8(PTEN):c.839del (p.Ile280fs) rs1589665663
NM_000314.8(PTEN):c.849del (p.Glu284fs) rs1114167655
NM_000314.8(PTEN):c.850G>T (p.Glu284Ter) rs786202840
NM_000314.8(PTEN):c.860C>A (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter) rs562015640
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.870del (p.Glu291fs) rs886041332
NM_000314.8(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.878del (p.Gly293fs)
NM_000314.8(PTEN):c.881_885del (p.Ser294fs)
NM_000314.8(PTEN):c.883_886dup (p.Cys296fs)
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.885_888del (p.Cys296fs) rs1114167675
NM_000314.8(PTEN):c.886del (p.Cys296fs) rs1114167643
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter) rs1114167674
NM_000314.8(PTEN):c.899_903del (p.Ile300fs) rs1064796067
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.8(PTEN):c.914del (p.Ser305fs) rs1114167644
NM_000314.8(PTEN):c.917dup (p.Glu307fs) rs1554825560
NM_000314.8(PTEN):c.920_921insTA (p.Glu307fs)
NM_000314.8(PTEN):c.925dup (p.Ala309fs)
NM_000314.8(PTEN):c.92del (p.Asn31fs) rs1564814427
NM_000314.8(PTEN):c.930del (p.Asp310fs) rs1589665993
NM_000314.8(PTEN):c.938_939del (p.Lys313fs)
NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer) rs1114167628
NM_000314.8(PTEN):c.949del (p.Val317fs) rs876658837
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
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.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.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.968del (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.973del (p.Asp326fs) rs1554825602
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_000314.8(PTEN):c.975dup (p.Asp326Ter) rs1589666183
NM_000314.8(PTEN):c.97_98del (p.Ile33fs) rs876658171
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.993_994dup (p.Lys332fs) rs1114167638
NM_000314.8(PTEN):c.994A>T (p.Lys332Ter)
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) rs1131690845
NM_000321.2(RB1):c.382_383dupGT
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.3(RB1):c.1027del (p.Leu343fs) rs1131690873
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1064_1065del (p.Arg355fs) rs1131690861
NM_000321.3(RB1):c.106del (p.Asp36fs) rs1131690913
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs) rs1131690872
NM_000321.3(RB1):c.1105del (p.Ile369fs)
NM_000321.3(RB1):c.1128-2A>G rs1131690892
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.3(RB1):c.1158del (p.Met386fs)
NM_000321.3(RB1):c.118del (p.Glu40fs) rs1593412261
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+1G>C
NM_000321.3(RB1):c.1215+2T>G rs1060503074
NM_000321.3(RB1):c.1229del (p.Asn410fs) rs1131690897
NM_000321.3(RB1):c.1251_1252del (p.Arg418fs) rs1131690889
NM_000321.3(RB1):c.128dup (p.Leu44fs)
NM_000321.3(RB1):c.1321dup (p.Ile441fs) rs1131690875
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.137+1G>T rs1131690855
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.1389+1G>A
NM_000321.3(RB1):c.1389+5G>A rs1131690859
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
NM_000321.3(RB1):c.1421+1del rs1555286576
NM_000321.3(RB1):c.1422-1G>T
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter)
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1447del (p.His483fs) rs1131690910
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1450_1459del (p.Met484fs)
NM_000321.3(RB1):c.1498+2T>C
NM_000321.3(RB1):c.1502_1514del (p.Ser501fs) rs1131690856
NM_000321.3(RB1):c.1522dup (p.Ser508fs)
NM_000321.3(RB1):c.1531del (p.Asp511fs)
NM_000321.3(RB1):c.1535del (p.Leu512fs)
NM_000321.3(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter)
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
NM_000321.3(RB1):c.1605del (p.Phe535fs)
NM_000321.3(RB1):c.1616_1617dup (p.Gly540fs)
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) rs1593457065
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.164del (p.Pro55fs)
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1695+3A>C rs1131690870
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1726_1729del (p.Ser576fs)
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1811del (p.Asp604fs) rs1131690893
NM_000321.3(RB1):c.1814+1G>A
NM_000321.3(RB1):c.1814+2T>G rs1131690899
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
NM_000321.3(RB1):c.1822del (p.Ser608fs)
NM_000321.3(RB1):c.1853C>G (p.Ser618Ter)
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter) rs587778833
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
NM_000321.3(RB1):c.1946del (p.Leu649fs)
NM_000321.3(RB1):c.1960+5G>C rs587778871
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1993del (p.Leu665fs)
NM_000321.3(RB1):c.19del (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2011_2014del (p.Glu672fs) rs1131690885
NM_000321.3(RB1):c.2014G>T (p.Glu672Ter) rs1131690903
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2055del (p.Gln685fs) rs1131690844
NM_000321.3(RB1):c.2074_2087del (p.Tyr692fs)
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2104C>T (p.Gln702Ter) rs1131690865
NM_000321.3(RB1):c.2105A>G (p.Gln702Arg) rs1131690857
NM_000321.3(RB1):c.2124del (p.Met708fs)
NM_000321.3(RB1):c.2128_2132del (p.Gly710fs) rs1131690896
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.3(RB1):c.219_220del (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.2210dup (p.Thr738fs)
NM_000321.3(RB1):c.2211+1G>A rs1949420231
NM_000321.3(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.3(RB1):c.2266del (p.Tyr756fs)
NM_000321.3(RB1):c.2287A>T (p.Arg763Ter)
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) rs2138344925
NM_000321.3(RB1):c.2299_2302del (p.Asn767fs) rs1131690894
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2346dup (p.Pro783fs)
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs) rs1131690868
NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter) rs774744607
NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter) rs774744607
NM_000321.3(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.3(RB1):c.2468del (p.Thr823fs)
NM_000321.3(RB1):c.2472_2473del (p.Lys824fs)
NM_000321.3(RB1):c.2480dup (p.Arg828fs)
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2495T>G (p.Leu832Ter)
NM_000321.3(RB1):c.2496_2505del (p.Ser834fs)
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter) rs1131690908
NM_000321.3(RB1):c.2520+1G>A rs587778850
NM_000321.3(RB1):c.2520+1G>T rs587778850
NM_000321.3(RB1):c.2520+1del rs587776779
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2551dup (p.Met851fs)
NM_000321.3(RB1):c.25del (p.Thr9fs)
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.3(RB1):c.281dup (p.Lys95fs) rs1131690862
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.306T>A (p.Cys102Ter)
NM_000321.3(RB1):c.334G>T (p.Glu112Ter)
NM_000321.3(RB1):c.358_362dup (p.Gln121fs)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.377del (p.Ile126fs) rs2138084130
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.434del (p.Asp145fs) rs1131690912
NM_000321.3(RB1):c.443del (p.Met148fs) rs1131690867
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.3(RB1):c.453_454del (p.Leu152fs)
NM_000321.3(RB1):c.496G>T (p.Glu166Ter) rs1131690874
NM_000321.3(RB1):c.500+1G>T rs1131690880
NM_000321.3(RB1):c.506del (p.Cys169fs)
NM_000321.3(RB1):c.524del (p.Thr175fs)
NM_000321.3(RB1):c.526_527del (p.Gln176fs)
NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer) rs1131690871
NM_000321.3(RB1):c.549del (p.Glu184fs) rs1131690887
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.3(RB1):c.54_79dup (p.Pro27fs)
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
NM_000321.3(RB1):c.56_75dup (p.Pro26fs)
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.607+1G>C rs587776789
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.607+2dup rs1131690895
NM_000321.3(RB1):c.62del (p.Pro21fs)
NM_000321.3(RB1):c.635del (p.Leu212fs)
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.3(RB1):c.667del (p.Asp224fs)
NM_000321.3(RB1):c.681del (p.Lys228fs) rs1131690905
NM_000321.3(RB1):c.702del (p.Leu234fs) rs1131690878
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs) rs1131690890
NM_000321.3(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.814del (p.Arg272fs)
NM_000321.3(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.3(RB1):c.862-2A>C rs1131690914
NM_000321.3(RB1):c.863_864del (p.Val288fs)
NM_000321.3(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer) rs1952715820
NM_000321.3(RB1):c.964G>T (p.Glu322Ter) rs776534331
NM_000321.3(RB1):c.987del (p.Asp330fs)
NM_000321.3(RB1):c.995del (p.Asp332fs)
NM_000321.3(RB1):c.9_42dup (p.Ala15fs) rs1555279195
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000328.3(RPGR):c.1997_1998del (p.Val666fs)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000335.5(SCN5A):c.1024dup (p.Leu342fs)
NM_000335.5(SCN5A):c.1230del (p.Val411fs)
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs)
NM_000335.5(SCN5A):c.1576del (p.Arg526fs)
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter)
NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs)
NM_000335.5(SCN5A):c.1903dup (p.Glu635fs)
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter)
NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter) rs2125935394
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)
NM_000335.5(SCN5A):c.2274del (p.Ile759fs) rs2125881256
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2520del (p.Asn841fs)
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2533dup (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter)
NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs)
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter)
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_000335.5(SCN5A):c.3259del (p.Ala1087fs) rs1553699292
NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter)
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter)
NM_000335.5(SCN5A):c.3392del (p.Pro1131fs)
NM_000335.5(SCN5A):c.3458del (p.Ile1153fs)
NM_000335.5(SCN5A):c.3493del (p.Asp1165fs)
NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs) rs2125849694
NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter) rs1553696647
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.4085del (p.Cys1362fs) rs2125840793
NM_000335.5(SCN5A):c.40del (p.Arg14fs)
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter) rs863224532
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) rs1553694426
NM_000335.5(SCN5A):c.4420del (p.Gln1474fs) rs886039018
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.576del (p.Trp193fs) rs2062303387
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000346.4(SOX9):c.227C>A (p.Ala76Glu) rs137853128
NM_000346.4(SOX9):c.331G>A (p.Ala111Thr) rs1425166755
NM_000350.3(ABCA4):c.1302del (p.Gln437fs) rs1448468321
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.622G>T (p.Glu208Ter)
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000360.4(TH):c.672C>G (p.Tyr224Ter) rs1554923218
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) rs267607128
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.1195_1196delinsTG (p.Pro399Ter)
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) rs118203509
NM_000368.5(TSC1):c.140_146del (p.Asp47fs)
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1467del (p.Thr490fs)
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.1724del (p.Ser575fs) rs1554815889
NM_000368.5(TSC1):c.179dup (p.Leu61fs)
NM_000368.5(TSC1):c.1816del (p.His606fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.5(TSC1):c.2041+2T>C rs118203625
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser) rs118203624
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2080_2095del (p.Gln694fs)
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2276_2303del (p.Ala759fs)
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2369del (p.Tyr790fs)
NM_000368.5(TSC1):c.2374C>T (p.Gln792Ter)
NM_000368.5(TSC1):c.2501del (p.Lys834fs)
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2517dup (p.Ser840fs)
NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter) rs1114167619
NM_000368.5(TSC1):c.2546_2552del (p.Asn849fs)
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter) rs1588297391
NM_000368.5(TSC1):c.2551dup (p.Gln851fs)
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter) rs2131685383
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.5(TSC1):c.263_277delinsTA (p.Ser88fs)
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.2711_2712del (p.Thr904fs)
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
NM_000368.5(TSC1):c.2843dup (p.Tyr948Ter)
NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter) rs1554813331
NM_000368.5(TSC1):c.2877del (p.Glu959fs)
NM_000368.5(TSC1):c.363G>C (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs) rs1554819932
NM_000368.5(TSC1):c.401del (p.Leu134fs)
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter) rs1846671628
NM_000368.5(TSC1):c.526dup (p.Tyr176fs) rs2132161155
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter) rs118203407
NM_000368.5(TSC1):c.637dup (p.Leu213fs) rs1114167620
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.749_751delinsAA (p.Leu250_Glu251delinsTer)
NM_000368.5(TSC1):c.804del (p.Ala269fs)
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) rs118203451
NM_000368.5(TSC1):c.962del (p.Asn321fs)
NM_000368.5(TSC1):c.988_989del (p.Leu330fs) rs118203477
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000371.4(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.4(TTR):c.114T>A (p.Asp38Glu) rs779619795
NM_000371.4(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) rs1598844213
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.200G>A (p.Gly67Glu) rs121918090
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.4(TTR):c.200G>T (p.Gly67Val) rs121918090
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.214T>C (p.Ser72Pro) rs2144409444
NM_000371.4(TTR):c.220G>A (p.Glu74Lys) rs1555631393
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.290C>T (p.Ser97Phe)
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.323A>G (p.His108Arg) rs2073511411
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000380.4(XPA):c.288del (p.Val97fs)
NM_000381.4(MID1):c.1222G>T (p.Glu408Ter)
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1554_1555del (p.Thr518_Pro519insTer)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) rs1663118269
NM_000384.3(APOB):c.2173C>T (p.Gln725Ter)
NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter) rs1663384393
NM_000384.3(APOB):c.7558C>T (p.Arg2520Ter)
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1385_1388dup (p.His463fs)
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1714G>T (p.Glu572Ter)
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.186-1G>T rs797044441
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) rs104893701
NM_000388.4(CASR):c.384C>A (p.Phe128Leu) rs1553766262
NM_000388.4(CASR):c.384C>G (p.Phe128Leu) rs1553766262
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) rs201091657
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.976C>T (p.Gln326Ter)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000392.5(ABCC2):c.1891del (p.Cys631fs)
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs) rs762346634
NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser) rs74315439
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.3752dup (p.Lys1252fs) rs1554269855
NM_000426.4(LAMA2):c.8244+1G>T rs749522728
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer) rs1456336365
NM_000455.5(STK11):c.1004_1019dup (p.Leu341fs)
NM_000455.5(STK11):c.1010_1011del (p.Val337fs) rs2145430970
NM_000455.5(STK11):c.106del (p.Tyr36fs) rs1131690924
NM_000455.5(STK11):c.107dup (p.Tyr36Ter)
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter) rs137853079
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
NM_000455.5(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.5(STK11):c.116_117dup (p.Arg40fs)
NM_000455.5(STK11):c.156_157del (p.Asp53fs) rs1131690917
NM_000455.5(STK11):c.156_157dup (p.Asp53fs)
NM_000455.5(STK11):c.157del (p.Asp53fs)
NM_000455.5(STK11):c.157dup (p.Asp53fs) rs1131690917
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter) rs778376925
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter) rs778376925
NM_000455.5(STK11):c.195_198del (p.Glu65fs) rs1131690936
NM_000455.5(STK11):c.209dup (p.Thr71fs) rs1131690929
NM_000455.5(STK11):c.242del (p.Lys81fs) rs1599915235
NM_000455.5(STK11):c.246del (p.Lys83fs)
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.5(STK11):c.256del (p.Arg86fs)
NM_000455.5(STK11):c.267del (p.Asn90fs)
NM_000455.5(STK11):c.288_289dup (p.Lys97fs) rs2080673579
NM_000455.5(STK11):c.290+1G>T rs1131690950
NM_000455.5(STK11):c.291-1G>A rs112675807
NM_000455.5(STK11):c.291-2A>G rs876658584
NM_000455.5(STK11):c.305_306dup (p.Arg103Ter)
NM_000455.5(STK11):c.357del (p.Asn119fs) rs1555737444
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.363_367dup (p.Gln123fs) rs1131690933
NM_000455.5(STK11):c.367C>T (p.Gln123Ter) rs1131690925
NM_000455.5(STK11):c.373dup (p.Met125fs) rs1131690952
NM_000455.5(STK11):c.374+1A>G rs1131690951
NM_000455.5(STK11):c.388G>T (p.Glu130Ter) rs1599925303
NM_000455.5(STK11):c.396C>A (p.Cys132Ter) rs730881969
NM_000455.5(STK11):c.409C>T (p.Gln137Ter) rs730881970
NM_000455.5(STK11):c.418del (p.Leu140fs) rs397518440
NM_000455.5(STK11):c.446del (p.Pro149fs) rs1131690926
NM_000455.5(STK11):c.460dup (p.His154fs)
NM_000455.5(STK11):c.462dup (p.Gly155fs)
NM_000455.5(STK11):c.464+1G>T rs730881971
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)
NM_000455.5(STK11):c.479_489del (p.Leu160fs)
NM_000455.5(STK11):c.487_490del (p.Gly163fs)
NM_000455.5(STK11):c.488G>A (p.Gly163Asp) rs137853078
NM_000455.5(STK11):c.497_500dup (p.His168fs) rs1131690922
NM_000455.5(STK11):c.498C>G (p.Tyr166Ter) rs1555738205
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.526del (p.Asp176fs) rs1599926521
NM_000455.5(STK11):c.540del (p.Asn181fs) rs1131690939
NM_000455.5(STK11):c.540dup (p.Asn181fs) rs1131690939
NM_000455.5(STK11):c.541_542dup (p.Asn181fs)
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.5(STK11):c.574del (p.Ile192fs) rs587781856
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_000455.5(STK11):c.597+1G>A
NM_000455.5(STK11):c.598-1G>A rs1555738319
NM_000455.5(STK11):c.598-2A>G rs1131690934
NM_000455.5(STK11):c.608dup (p.Phe204fs) rs1131690946
NM_000455.5(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.5(STK11):c.640C>T (p.Gln214Ter) rs1131690923
NM_000455.5(STK11):c.645del (p.Ser216fs)
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.5(STK11):c.663_675del (p.Pro222fs)
NM_000455.5(STK11):c.677del (p.Asn226fs)
NM_000455.5(STK11):c.67del (p.Asp23fs) rs1555734904
NM_000455.5(STK11):c.719C>A (p.Ser240Ter) rs730881976
NM_000455.5(STK11):c.734+1G>A rs587782018
NM_000455.5(STK11):c.734+1G>C rs587782018
NM_000455.5(STK11):c.734+1G>T rs587782018
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.752del (p.Gly251fs) rs1131690948
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.5(STK11):c.792del (p.Phe264fs) rs1599927622
NM_000455.5(STK11):c.806del (p.Lys269fs) rs1599927645
NM_000455.5(STK11):c.816C>A (p.Tyr272Ter)
NM_000455.5(STK11):c.816C>G (p.Tyr272Ter) rs9282859
NM_000455.5(STK11):c.824del (p.Pro275fs)
NM_000455.5(STK11):c.827del (p.Gly276fs)
NM_000455.5(STK11):c.830_836dup (p.Pro280fs) rs1599927689
NM_000455.5(STK11):c.834_835del (p.Cys278fs) rs587776659
NM_000455.5(STK11):c.842del (p.Pro281fs) rs121913321
NM_000455.5(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.843dup (p.Leu282fs) rs1131690949
NM_000455.5(STK11):c.862+1G>T rs1131690921
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter) rs148928808
NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer) rs1131690947
NM_000455.5(STK11):c.877G>T (p.Glu293Ter) rs398123405
NM_000455.5(STK11):c.885del (p.Lys296fs)
NM_000455.5(STK11):c.899del (p.Ile300fs) rs786203624
NM_000455.5(STK11):c.901del (p.Arg301fs)
NM_000455.5(STK11):c.901dup (p.Arg301fs)
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.910del (p.Arg304fs) rs1064793427
NM_000455.5(STK11):c.911G>C (p.Arg304Pro) rs376280361
NM_000455.5(STK11):c.913C>T (p.Gln305Ter) rs1131690945
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000455.5(STK11):c.921-1G>C rs398123406
NM_000455.5(STK11):c.922_931delinsCC (p.Trp308fs) rs1599929258
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000455.5(STK11):c.924G>A (p.Trp308Ter)
NM_000455.5(STK11):c.933_936del (p.Lys311fs)
NM_000455.5(STK11):c.93dup (p.Thr32fs) rs1131690930
NM_000455.5(STK11):c.965del (p.Ile322fs)
NM_000458.4(HNF1B):c.1014del (p.Gln338fs)
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000465.2:c.(1903+1_1904-1)_(2001+1_2002-1)dup
NM_000465.4(BARD1):c.1002del (p.Arg335fs) rs1694972839
NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter) rs1694972567
NM_000465.4(BARD1):c.1004_1005del (p.Arg335fs)
NM_000465.4(BARD1):c.100dup (p.Trp34fs) rs1553628410
NM_000465.4(BARD1):c.1014del (p.Ser339fs) rs1064793682
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.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.107del (p.His36fs)
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
NM_000465.4(BARD1):c.1100del (p.Ser367fs)
NM_000465.4(BARD1):c.1133_1135delinsCC (p.Arg378fs)
NM_000465.4(BARD1):c.1185del (p.Pro396fs)
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs) rs1694949382
NM_000465.4(BARD1):c.1187_1197delinsTTG (p.Pro396fs) rs1574816645
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter) rs1172609046
NM_000465.4(BARD1):c.1198del (p.Ser400fs) rs786203891
NM_000465.4(BARD1):c.1205del (p.Ser401_Ser402insTer)
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter) rs1553622178
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.1233del (p.Ser412fs)
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer) rs1553622145
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) rs786203533
NM_000465.4(BARD1):c.1270del (p.Arg424fs) rs876660911
NM_000465.4(BARD1):c.1282G>T (p.Gly428Ter) rs1553622106
NM_000465.4(BARD1):c.1284del (p.Glu429fs) rs879253879
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
NM_000465.4(BARD1):c.1318_1321dup (p.Ile441fs)
NM_000465.4(BARD1):c.1325del (p.Pro442fs) rs1060501287
NM_000465.4(BARD1):c.1329del (p.Val444fs) rs767587416
NM_000465.4(BARD1):c.1335del (p.Glu445fs)
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter) rs761702998
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) rs1553619721
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs) rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.1371del (p.Asp458fs) rs1553619704
NM_000465.4(BARD1):c.1375del (p.His459fs)
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter) rs1553619349
NM_000465.4(BARD1):c.1465_1466del (p.Thr489fs)
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
NM_000465.4(BARD1):c.1480_1481del (p.Gln493_Asn494insTer) rs2106076720
NM_000465.4(BARD1):c.1482_1485delinsGGGTA (p.Asn494fs)
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter) rs1405646805
NM_000465.4(BARD1):c.1539_1542del (p.Leu513fs)
NM_000465.4(BARD1):c.1539dup (p.Leu514fs)
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
NM_000465.4(BARD1):c.1548T>G (p.Tyr516Ter)
NM_000465.4(BARD1):c.157del (p.Cys53fs) rs1696452439
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
NM_000465.4(BARD1):c.1620del (p.Lys540fs) rs1693504040
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) rs777937955
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter) rs876658429
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>G (p.Ser553Ter)
NM_000465.4(BARD1):c.1659del (p.Ala554fs)
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs) rs753537518
NM_000465.4(BARD1):c.1665_1666dup (p.His556fs)
NM_000465.4(BARD1):c.1714_1715insATAA (p.Leu572fs)
NM_000465.4(BARD1):c.1716dup (p.Ile573fs) rs1574739562
NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs) rs2106021114
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter) rs1553615135
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.1788dup (p.Tyr597fs)
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer) rs1553615092
NM_000465.4(BARD1):c.1818del (p.His606fs)
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.1853T>A (p.Leu618Ter)
NM_000465.4(BARD1):c.1857_1860dup (p.Met621fs)
NM_000465.4(BARD1):c.1865_1903+274del rs1693019491
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1875_1876del (p.Asn626fs)
NM_000465.4(BARD1):c.1886G>A (p.Trp629Ter) rs747446711
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter) rs878854003
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.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1970del (p.Pro657fs) rs786203739
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2015_2016dup (p.Asp673fs) rs1559372682
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) rs1559372578
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.225_228del (p.Ser76fs) rs1553624830
NM_000465.4(BARD1):c.226del (p.Ser76fs) rs1559437264
NM_000465.4(BARD1):c.252_264del (p.Val85fs)
NM_000465.4(BARD1):c.257_258del (p.Cys86fs)
NM_000465.4(BARD1):c.268_270delinsCT (p.Ala90fs)
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.277C>T (p.Gln93Ter) rs876658571
NM_000465.4(BARD1):c.292_295del (p.Asn98fs) rs1553624758
NM_000465.4(BARD1):c.293del (p.Asn98fs)
NM_000465.4(BARD1):c.295del (p.Arg99fs)
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter) rs786201912
NM_000465.4(BARD1):c.328A>T (p.Lys110Ter) rs1574839460
NM_000465.4(BARD1):c.395del (p.Leu132fs)
NM_000465.4(BARD1):c.395dup (p.Leu132fs)
NM_000465.4(BARD1):c.415_416del (p.Lys139fs) rs1420243208
NM_000465.4(BARD1):c.432_438del (p.Lys144fs)
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter) rs587781806
NM_000465.4(BARD1):c.441dup (p.Ser148Ter) rs1553622681
NM_000465.4(BARD1):c.457_460dup (p.Val154fs) rs772486760
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter) rs1553622669
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs) rs1553628445
NM_000465.4(BARD1):c.485C>A (p.Ser162Ter)
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) rs786202500
NM_000465.4(BARD1):c.4_23del (p.Pro2fs) rs876660077
NM_000465.4(BARD1):c.513del (p.Asp172fs)
NM_000465.4(BARD1):c.513dup (p.Asp172fs) rs746325928
NM_000465.4(BARD1):c.514_515del (p.Asp172fs)
NM_000465.4(BARD1):c.517dup (p.Ala173fs) rs1574821129
NM_000465.4(BARD1):c.518dup (p.Ser174fs) rs1574821103
NM_000465.4(BARD1):c.526C>T (p.Gln176Ter) rs776851287
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000465.4(BARD1):c.540_542del (p.Tyr180_Glu181delinsTer)
NM_000465.4(BARD1):c.559_577del (p.Pro187fs)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
NM_000465.4(BARD1):c.592del (p.Ala198fs) rs876660761
NM_000465.4(BARD1):c.606del (p.Gly203fs)
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.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.632T>A (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.632del (p.Thr210_Leu211insTer)
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.66del (p.Ala23fs)
NM_000465.4(BARD1):c.695_696delinsT (p.Lys232fs)
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.713del (p.Lys238fs)
NM_000465.4(BARD1):c.716del (p.Leu239fs) rs2106110871
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter) rs587781430
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
NM_000465.4(BARD1):c.740del (p.Ser247fs) rs2106110712
NM_000465.4(BARD1):c.746del (p.Ile249fs) rs1574819607
NM_000465.4(BARD1):c.755del (p.Pro252fs) rs1553622471
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter) rs587780037
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter) rs1060501288
NM_000465.4(BARD1):c.824T>A (p.Leu275Ter) rs765629130
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
NM_000465.4(BARD1):c.838_839del (p.Leu280fs) rs876659752
NM_000465.4(BARD1):c.858dup (p.Glu287fs) rs1553622397
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000465.4(BARD1):c.873dup (p.Lys292Ter) rs1553622378
NM_000465.4(BARD1):c.891_895del (p.Val298fs) rs1574818696
NM_000465.4(BARD1):c.899del (p.Pro300fs)
NM_000465.4(BARD1):c.920_921del (p.Tyr307fs) rs1553622342
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter) rs587781728
NM_000465.4(BARD1):c.947_949delinsAA (p.Leu316_Glu317delinsTer)
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
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_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000483.5(APOC2):c.196_197del (p.Ala66fs) rs751214954
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.6003G>A (p.Trp2001Ter) rs1557082399
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3:c.54_273del
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1097del (p.Gly366fs)
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter) rs397508175
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.1210-11delinsGTG rs1584793368
NM_000492.4(CFTR):c.1210-11delinsGTGTG
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1319_1323del (p.Val440fs)
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter) rs397508207
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter) rs397508209
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
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.156dup (p.Leu53fs)
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.4(CFTR):c.1573del (p.Gln525fs) rs774433839
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) rs397508279
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1807del (p.Val603fs)
NM_000492.4(CFTR):c.1891dup (p.Ser631fs)
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
NM_000492.4(CFTR):c.1973_1985delinsAGAAA rs121908780
NM_000492.4(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
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.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) rs387906359
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2555del (p.Tyr852fs)
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter) rs1584784895
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3161del (p.His1054fs) rs387906377
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter) rs397508549
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.4(CFTR):c.3639dup (p.Asp1214fs) rs2116129829
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3718-1G>A rs387906369
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
NM_000492.4(CFTR):c.3795del (p.Glu1266fs)
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs) rs397508612
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer) rs397508695
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter) rs397508811
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) rs1799022949
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.959del (p.Leu320fs) rs1584789267
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) rs2089386059
NM_000516.7(GNAS):c.140-1G>C
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.660-1G>A
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) rs756844068
NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1046dup (p.Arg350fs) rs1555804545
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1067del (p.Asp356fs) rs879254778
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter) rs879254784
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter) rs879254789
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser) rs879254801
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe) rs879254801
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) rs879254802
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1137T>A (p.Cys379Ter) rs2147241680
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) rs879254805
NM_000527.5(LDLR):c.1164del (p.His388fs)
NM_000527.5(LDLR):c.1169del (p.Lys390fs)
NM_000527.5(LDLR):c.1186+1G>T rs730880131
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs)
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) rs2077408827
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer) rs2077410686
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter) rs1555802287
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
NM_000527.5(LDLR):c.136_142del (p.Cys46fs)
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs) rs1600727715
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1587-1G>A rs879254948
NM_000527.5(LDLR):c.1587-1G>C
NM_000527.5(LDLR):c.1587-2A>G rs879254947
NM_000527.5(LDLR):c.1587-2A>T rs879254947
NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg)
NM_000527.5(LDLR):c.1613_1622del (p.Thr538fs)
NM_000527.5(LDLR):c.1617del (p.Ala540fs)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1764_1775delinsGTCAATGGGGGCAACC (p.Ile588fs)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1808dup (p.Arg604fs) rs1555806526
NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs)
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) rs879255046
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+1G>A rs879254428
NM_000527.5(LDLR):c.190+1G>T rs879254428
NM_000527.5(LDLR):c.190+2T>G rs879254430
NM_000527.5(LDLR):c.190+5G>C
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)
NM_000527.5(LDLR):c.1955dup (p.Met652fs)
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.1988-50_2007del
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2041_2042del (p.Cys681fs)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2054dup (p.Gln686fs)
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) rs2077532372
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2069_2085del (p.His690fs)
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) rs879255141
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2167del (p.Glu723fs) rs879255153
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) rs879255159
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs) rs1555808094
NM_000527.5(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2340del (p.Asn780fs)
NM_000527.5(LDLR):c.2344A>T (p.Lys782Ter) rs875989943
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.23T>A (p.Leu8Ter)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.5(LDLR):c.2502dup (p.Glu835Ter)
NM_000527.5(LDLR):c.2547+1G>T
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) rs777640882
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr) rs749038326
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala) rs771019366
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.320del (p.Lys107fs)
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.334_349dup (p.His117fs)
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.5(LDLR):c.338_343delinsT (p.Glu113fs)
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) rs879254514
NM_000527.5(LDLR):c.415_416del (p.Asp139fs)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.41dup (p.Leu14fs) rs879254388
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser) rs875989901
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly) rs879254540
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) rs777326720
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000527.5(LDLR):c.560_570del (p.Leu187fs) rs2077275747
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) rs1057519655
NM_000527.5(LDLR):c.610T>G (p.Cys204Gly) rs1057519655
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.631del (p.His211fs)
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) rs879254606
NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del)
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) rs2077280444
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter) rs2077282376
NM_000527.5(LDLR):c.678del (p.Asp227fs)
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.694+1G>T rs879254646
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.695-1G>C
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.705dup (p.Cys236fs) rs879254653
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.779_782del (p.Asp260fs) rs1600713742
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.825_826del (p.Cys276fs) rs879254691
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.933del (p.Glu312fs) rs879254723
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.966del (p.Asn322fs) rs2077361078
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.979del (p.His327fs) rs2077361581
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.181dup (p.Asp61fs)
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) rs797044941
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) rs1571818312
NM_000531.6(OTC):c.179C>G (p.Ser60Ter)
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000533.5(PLP1):c.2T>C (p.Met1Thr) rs864622194
NM_000533.5(PLP1):c.2T>G (p.Met1Arg) rs864622194
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000535.5:c.2448_2449insTCTCATTGTGTCTCACACTCATTGTGTCTCACACTCAGGTG
NM_000535.5:c.804-60_804-59insSVA
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.7(PMS2):c.1010del (p.Thr337fs)
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1021dup (p.Arg341fs)
NM_000535.7(PMS2):c.1024C>T (p.Gln342Ter)
NM_000535.7(PMS2):c.1024del (p.Gln342fs)
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1040del (p.Glu347fs)
NM_000535.7(PMS2):c.1046del (p.Lys349fs)
NM_000535.7(PMS2):c.1046dup (p.Leu350fs)
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_000535.7(PMS2):c.1064T>A (p.Leu355Ter)
NM_000535.7(PMS2):c.1064del (p.Val354_Leu355insTer)
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1068del (p.Thr357fs) rs1554298741
NM_000535.7(PMS2):c.1071del (p.Ser358fs) rs1783529876
NM_000535.7(PMS2):c.1076T>A (p.Leu359Ter)
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1079del (p.Ile360fs)
NM_000535.7(PMS2):c.1082_1094del (p.Gly361fs)
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.1144G>C (p.Gly382Arg) rs779512948
NM_000535.7(PMS2):c.1148del (p.Asn383fs)
NM_000535.7(PMS2):c.1150_1151del (p.Leu384fs) rs2128737358
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1156A>T (p.Lys386Ter)
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.1185del (p.Met396fs) rs786204104
NM_000535.7(PMS2):c.1192G>T (p.Glu398Ter)
NM_000535.7(PMS2):c.1196del (p.Lys399fs)
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter) rs876658862
NM_000535.7(PMS2):c.119_122dup (p.Leu42fs) rs1554306391
NM_000535.7(PMS2):c.1201del (p.Asp401fs)
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1217dup (p.Leu406fs)
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.122del (p.Glu41fs)
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
NM_000535.7(PMS2):c.1238_1239dup (p.Asp414fs)
NM_000535.7(PMS2):c.1239del (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1240del (p.Asp414fs)
NM_000535.7(PMS2):c.1245_1246del (p.Ser416fs)
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.125T>G (p.Leu42Ter)
NM_000535.7(PMS2):c.1264del (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.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.1321G>T (p.Glu441Ter)
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1334_1344del (p.Ser445fs)
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter) rs876661256
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1356dup (p.Met453fs) rs1583321194
NM_000535.7(PMS2):c.135_136del (p.Asn45fs) rs1583418616
NM_000535.7(PMS2):c.136_139del (p.Ser46fs)
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1376_1405del (p.Ser459_Arg469delinsTer)
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT (p.Pro470delinsValPheTer) rs1554297781
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
NM_000535.7(PMS2):c.1425_1434del (p.Ser476fs)
NM_000535.7(PMS2):c.1452_1457delinsAGTCACGGACC (p.Thr485fs)
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1515del (p.Phe506fs) rs1583319050
NM_000535.7(PMS2):c.1534_1547del (p.Gly512fs)
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.1553del (p.Glu518fs) rs1583318494
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter) rs6972869
NM_000535.7(PMS2):c.1571del (p.Pro524fs)
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1583del (p.Gly528fs) rs1783042060
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.1609G>T (p.Glu537Ter)
NM_000535.7(PMS2):c.1624del (p.Thr542fs)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1640C>G (p.Ser547Ter)
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1658C>G (p.Ser553Ter)
NM_000535.7(PMS2):c.1663C>T (p.Gln555Ter)
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1675_1705delinsAG (p.Gly559fs)
NM_000535.7(PMS2):c.1678del (p.Cys560fs)
NM_000535.7(PMS2):c.1679_1707del (p.Gly559_Cys560insTer)
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.1694del (p.Leu565fs)
NM_000535.7(PMS2):c.16_17dup (p.Ser6fs)
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
NM_000535.7(PMS2):c.1709dup (p.Asn570fs) rs1783004175
NM_000535.7(PMS2):c.1711del (p.Leu571fs)
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer) rs1785429855
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1743dup (p.Glu582fs)
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs) rs1782992250
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
NM_000535.7(PMS2):c.1771del (p.Cys591fs)
NM_000535.7(PMS2):c.1777A>T (p.Lys593Ter)
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1781T>A (p.Leu594Ter)
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter) rs1782978316
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000535.7(PMS2):c.1813del (p.Val605fs)
NM_000535.7(PMS2):c.1816del (p.Asp606fs)
NM_000535.7(PMS2):c.182del (p.Tyr61fs) rs63750793
NM_000535.7(PMS2):c.1831del (p.Ile611fs)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1833del (p.Asn612fs)
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1840_1843del (p.Lys614fs)
NM_000535.7(PMS2):c.1842del (p.Val615fs)
NM_000535.7(PMS2):c.1852del (p.Leu618fs)
NM_000535.7(PMS2):c.1853del (p.Leu618fs)
NM_000535.7(PMS2):c.1855del (p.Asp619fs) rs1782958183
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1861del (p.Ser621fs) rs2128722209
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.1865_1887del (p.Met622fs)
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1888A>T (p.Lys630Ter)
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
NM_000535.7(PMS2):c.1896dup (p.His633fs)
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1909del (p.Gln637fs)
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) rs764342199
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1915del (p.Ser639fs)
NM_000535.7(PMS2):c.1918G>T (p.Glu640Ter)
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
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.1957del (p.Cys653fs)
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1971_1974del (p.Asn657fs)
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.1999G>T (p.Glu667Ter)
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.2001del (p.Glu667_Ile668insTer)
NM_000535.7(PMS2):c.2005dup (p.Ser669fs)
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2026_2027del (p.Met676fs)
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter) rs1782465728
NM_000535.7(PMS2):c.2041del (p.Gln681fs)
NM_000535.7(PMS2):c.205del (p.Ser69fs) rs2128830113
NM_000535.7(PMS2):c.2068A>T (p.Lys690Ter)
NM_000535.7(PMS2):c.208_209del (p.Asp70fs)
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2106del (p.Thr703fs)
NM_000535.7(PMS2):c.2113G>T (p.Glu705Ter) rs267608161
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp) rs1562615196
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2119del (p.Tyr707fs)
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2121T>G (p.Tyr707Ter)
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.2128G>T (p.Glu710Ter)
NM_000535.7(PMS2):c.2135del (p.Leu712fs)
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.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2161C>T (p.Gln721Ter)
NM_000535.7(PMS2):c.2174+2T>G
NM_000535.7(PMS2):c.2177del (p.Pro726fs)
NM_000535.7(PMS2):c.2180dup (p.Thr728fs) rs1583286301
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.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2197del (p.Ala733fs)
NM_000535.7(PMS2):c.2206G>T (p.Glu736Ter)
NM_000535.7(PMS2):c.2208del (p.Ala737fs) rs2128683310
NM_000535.7(PMS2):c.2221G>T (p.Glu741Ter)
NM_000535.7(PMS2):c.2225dup (p.Asn742fs)
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.2259del (p.Phe753fs)
NM_000535.7(PMS2):c.2259dup (p.Val754fs)
NM_000535.7(PMS2):c.2262del (p.Ile755fs)
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter) rs1583285344
NM_000535.7(PMS2):c.2273del (p.Asn758fs)
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2281_2284del (p.Val761fs)
NM_000535.7(PMS2):c.2281del (p.Val761fs)
NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter) rs1554293991
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) rs1554293975
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
NM_000535.7(PMS2):c.232_235del (p.Glu78fs) rs1583410315
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter) rs587780054
NM_000535.7(PMS2):c.2341dup (p.Gln781fs) rs2128674468
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2353_2360del (p.Glu785fs)
NM_000535.7(PMS2):c.2357_2373del (p.Leu786fs)
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2385_2386dup (p.Val796fs)
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.240del (p.Phe80fs) rs1554304957
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.2434_2437del (p.Cys812fs)
NM_000535.7(PMS2):c.2439del (p.Lys814fs)
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) rs2128671557
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2446-1G>A rs774583397
NM_000535.7(PMS2):c.2449_2452del (p.Met817fs)
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs) rs2128658792
NM_000535.7(PMS2):c.2471del (p.Thr824fs) rs1583270185
NM_000535.7(PMS2):c.2476G>T (p.Glu826Ter)
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.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.2506dup (p.Glu836fs)
NM_000535.7(PMS2):c.251-1G>A
NM_000535.7(PMS2):c.251-1G>T rs764171734
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.2515_2517delinsAGTT (p.His839fs) rs2128657907
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2534del (p.His845fs)
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter) rs1583269216
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.28G>T (p.Glu10Ter)
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.304G>T (p.Glu102Ter)
NM_000535.7(PMS2):c.30del (p.Glu10fs)
NM_000535.7(PMS2):c.319del (p.Arg107fs)
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
NM_000535.7(PMS2):c.324_325del (p.Glu109fs)
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.327del (p.Ala110fs)
NM_000535.7(PMS2):c.338C>G (p.Ser113Ter)
NM_000535.7(PMS2):c.351del (p.Ser118fs)
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) rs116373169
NM_000535.7(PMS2):c.383del (p.Ser128fs)
NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.3_13dup (p.Glu5fs)
NM_000535.7(PMS2):c.423del (p.Ile143fs)
NM_000535.7(PMS2):c.429del (p.Ile144fs)
NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)
NM_000535.7(PMS2):c.439del (p.Thr147fs)
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.447C>A (p.Tyr149Ter) rs1224505288
NM_000535.7(PMS2):c.451del (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.451dup (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.452_457delinsCCCCG (p.Arg151fs) rs1583403114
NM_000535.7(PMS2):c.452delinsCA (p.Arg151fs)
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
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.495_496dup (p.Leu166fs)
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter) rs1554309080
NM_000535.7(PMS2):c.510del (p.His170fs) rs1064793365
NM_000535.7(PMS2):c.512del (p.Lys171fs)
NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.534del (p.Lys179fs)
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.546del (p.Met184fs)
NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)
NM_000535.7(PMS2):c.556del (p.Gln186fs)
NM_000535.7(PMS2):c.566_567del (p.His189fs)
NM_000535.7(PMS2):c.576del (p.Tyr191_Cys192insTer)
NM_000535.7(PMS2):c.595dup (p.Arg199fs)
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000535.7(PMS2):c.625G>T (p.Gly209Ter)
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
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.667del (p.Ser222_Ile223insTer)
NM_000535.7(PMS2):c.676_677del (p.Asn226fs)
NM_000535.7(PMS2):c.679_689dup (p.Phe231fs)
NM_000535.7(PMS2):c.686_687del (p.Ser229fs) rs746766787
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.700A>T (p.Lys234Ter)
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.707T>A (p.Leu236Ter)
NM_000535.7(PMS2):c.707_709del (p.Leu236_Gln237delinsTer)
NM_000535.7(PMS2):c.710_714del (p.Gln237fs) rs1784546407
NM_000535.7(PMS2):c.710_718delinsT (p.Gln237fs)
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.730del (p.Gln244fs) rs1583375062
NM_000535.7(PMS2):c.736_741delinsGTGTGTGTGAA (p.Pro246fs)
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter) rs1554306528
NM_000535.7(PMS2):c.740del (p.Pro247fs)
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
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.752_757delinsCGTGTGTT (p.Val251fs) rs1583374436
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.756_757dup (p.Glu253fs)
NM_000535.7(PMS2):c.758_759del (p.Glu253fs) rs1583374404
NM_000535.7(PMS2):c.760G>T (p.Glu254Ter)
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.778_780delinsCG (p.Ser260fs)
NM_000535.7(PMS2):c.778_781del (p.Ser260fs)
NM_000535.7(PMS2):c.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.799_800insAAAT (p.Phe267Ter)
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.801_802del (p.Phe267fs)
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+2T>A
NM_000535.7(PMS2):c.803+2T>G
NM_000535.7(PMS2):c.803_804insAAATA (p.Tyr268Ter)
NM_000535.7(PMS2):c.804-1G>T
NM_000535.7(PMS2):c.805_806dup (p.Gly271fs)
NM_000535.7(PMS2):c.809C>A (p.Ser270Ter)
NM_000535.7(PMS2):c.813_826del (p.Phe272fs)
NM_000535.7(PMS2):c.81C>A (p.Cys27Ter)
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.830_831insA (p.His278fs)
NM_000535.7(PMS2):c.831del (p.His278fs)
NM_000535.7(PMS2):c.84del (p.Gln30fs)
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.852_855del (p.Arg287fs)
NM_000535.7(PMS2):c.857_864del (p.Asp286fs) rs267608154
NM_000535.7(PMS2):c.859A>T (p.Arg287Ter)
NM_000535.7(PMS2):c.859dup (p.Arg287fs) rs1554300763
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.865_866insCTGT (p.Phe289fs)
NM_000535.7(PMS2):c.869del (p.Phe290fs) rs2128775109
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.892_893insT (p.Asp298fs)
NM_000535.7(PMS2):c.899dup (p.Val302fs)
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.911_912del (p.Arg304fs)
NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs) rs1554299430
NM_000535.7(PMS2):c.930C>A (p.Tyr310Ter)
NM_000535.7(PMS2):c.936_958del (p.Met312fs)
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.986C>G (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.988+1G>C rs757110564
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-296_1144+706del
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs) rs35328240
NM_000542.5(SFTPB):c.581del (p.Gln194fs)
NM_000542.5(SFTPB):c.754C>T (p.Arg252Cys)
NM_000542.5(SFTPB):c.883C>T (p.Arg295Ter)
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)
NM_000545.8(HNF1A):c.478del (p.Ala160fs)
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.526+1G>T
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.830del (p.Phe277fs)
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.5(TP53):c.766_770delACACTins16 (p.?)
NM_000546.6(TP53):c.1005_1010del (p.Glu336_Arg337del)
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1010_1011del (p.Arg337fs) rs1131691040
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_000546.6(TP53):c.1018del (p.Met340fs) rs1131691005
NM_000546.6(TP53):c.1019_1028del (p.Met340fs) rs1597349257
NM_000546.6(TP53):c.101_102del (p.Pro34fs)
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1024del (p.Arg342fs) rs1131691022
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.6(TP53):c.1028del (p.Glu343fs) rs2150994907
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.1049_1050del (p.Leu350fs) rs1131691008
NM_000546.6(TP53):c.104del (p.Leu35fs)
NM_000546.6(TP53):c.105del (p.Leu35fs)
NM_000546.6(TP53):c.121_124dup (p.Asp42delinsGlyTer) rs1555526784
NM_000546.6(TP53):c.121del (p.Asp41fs)
NM_000546.6(TP53):c.128del (p.Asp42_Leu43insTer) rs2073485631
NM_000546.6(TP53):c.137delinsGT (p.Ser46fs) rs587782650
NM_000546.6(TP53):c.140del (p.Pro47fs) rs1567557016
NM_000546.6(TP53):c.140dup (p.Asp48fs)
NM_000546.6(TP53):c.155_157dup (p.Trp53Ter) rs587782609
NM_000546.6(TP53):c.155_164del (p.Gln52fs)
NM_000546.6(TP53):c.156_158dup (p.Trp53Ter)
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.168del (p.Asp57fs)
NM_000546.6(TP53):c.173del (p.Pro58fs) rs2151042416
NM_000546.6(TP53):c.200del (p.Pro67fs)
NM_000546.6(TP53):c.202G>T (p.Glu68Ter) rs869312782
NM_000546.6(TP53):c.214_215insG (p.Pro72fs) rs1131691014
NM_000546.6(TP53):c.216del (p.Val73fs) rs730882018
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.227_279del (p.Ala76fs) rs1555526610
NM_000546.6(TP53):c.248_249del (p.Ala83fs) rs1131691010
NM_000546.6(TP53):c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88fs)
NM_000546.6(TP53):c.261_270del (p.Ala88fs)
NM_000546.6(TP53):c.266_267del (p.Pro89fs)
NM_000546.6(TP53):c.267dup (p.Ser90fs) rs587783062
NM_000546.6(TP53):c.268_275dup (p.Leu93fs)
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.6(TP53):c.277_278del (p.Leu93fs) rs1597374098
NM_000546.6(TP53):c.279_280dup (p.Ser94fs)
NM_000546.6(TP53):c.281C>A (p.Ser94Ter)
NM_000546.6(TP53):c.282del (p.Ser95fs)
NM_000546.6(TP53):c.286del (p.Ser96fs)
NM_000546.6(TP53):c.294_297del (p.Ser99fs) rs730882015
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.298_310del (p.Gln100fs)
NM_000546.6(TP53):c.304del (p.Thr102fs)
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) rs1597373901
NM_000546.6(TP53):c.310_329del (p.Gln104fs) rs1555526565
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.324_328delinsAAAA (p.Phe109fs) rs1131691031
NM_000546.6(TP53):c.325T>G (p.Phe109Val) rs1057523496
NM_000546.6(TP53):c.325_328del (p.Phe109fs) rs1597373769
NM_000546.6(TP53):c.326delinsCCCAA (p.Phe109fs) rs1131691038
NM_000546.6(TP53):c.328del (p.Arg110fs) rs587780066
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.337T>G (p.Phe113Val) rs587781642
NM_000546.6(TP53):c.340_346dup (p.Ser116fs) rs1555526524
NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs)
NM_000546.6(TP53):c.346dup (p.Ser116fs)
NM_000546.6(TP53):c.354del (p.Ala119fs)
NM_000546.6(TP53):c.357del (p.Lys120fs) rs1597373517
NM_000546.6(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.366_369del (p.Thr123fs)
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.375+1dup rs1555526470
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.375G>T (p.Thr125=) rs55863639
NM_000546.6(TP53):c.376-1G>T rs868137297
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.379T>A (p.Ser127Thr) rs1597371694
NM_000546.6(TP53):c.379T>C (p.Ser127Pro) rs1597371694
NM_000546.6(TP53):c.380_416del (p.Tyr126_Ser127insTer)
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.6(TP53):c.389T>A (p.Leu130His) rs1131691013
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del) rs879254214
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.391A>T (p.Asn131Tyr) rs587782160
NM_000546.6(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.394_409del (p.Lys132fs) rs786203589
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.6(TP53):c.398dup (p.Met133fs) rs1597371512
NM_000546.6(TP53):c.400T>A (p.Phe134Ile) rs267605077
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.403_405delinsGG (p.Cys135fs) rs1131691036
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.406C>G (p.Gln136Glu) rs1555526268
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.6(TP53):c.416_420dup (p.Cys141fs) rs1555526250
NM_000546.6(TP53):c.418_427del (p.Thr140fs)
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.427del (p.Val143fs)
NM_000546.6(TP53):c.430C>T (p.Gln144Ter) rs757274881
NM_000546.6(TP53):c.430del (p.Gln144fs)
NM_000546.6(TP53):c.430dup (p.Gln144fs)
NM_000546.6(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.438G>A (p.Trp146Ter) rs1131691026
NM_000546.6(TP53):c.439del (p.Val147fs) rs1567553924
NM_000546.6(TP53):c.445del (p.Ser149fs) rs1064793929
NM_000546.6(TP53):c.447_459del (p.Thr150fs) rs137852790
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.454C>T (p.Pro152Ser) rs767328513
NM_000546.6(TP53):c.454_466del (p.Pro152fs) rs876659215
NM_000546.6(TP53):c.455_456insT (p.Pro153fs)
NM_000546.6(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.6(TP53):c.45del (p.Gln16fs) rs1555526997
NM_000546.6(TP53):c.461G>T (p.Gly154Val) rs762846821
NM_000546.6(TP53):c.461del (p.Gly154fs)
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.470T>G (p.Val157Gly) rs1131691023
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.473_477del (p.Arg158fs)
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.481_497dup (p.Gln167fs) rs1597370230
NM_000546.6(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.6(TP53):c.483_493del (p.Ile162fs)
NM_000546.6(TP53):c.484_487delinsGG (p.Ile162fs)
NM_000546.6(TP53):c.485_488dup (p.Lys164fs)
NM_000546.6(TP53):c.486_489delinsTGTAGACTGCTTGT (p.Tyr163fs) rs1597370312
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.501del (p.Gln167fs) rs1567553148
NM_000546.6(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.6(TP53):c.503A>T (p.His168Leu)
NM_000546.6(TP53):c.509_512del (p.Thr170fs) rs1555526082
NM_000546.6(TP53):c.511_515dup (p.Val173fs) rs786202514
NM_000546.6(TP53):c.512A>G (p.Glu171Gly)
NM_000546.6(TP53):c.514G>T (p.Val172Phe) rs1131691043
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>C (p.Val173Leu)
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>A (p.Cys176Ter)
NM_000546.6(TP53):c.52del (p.Thr18fs) rs876658627
NM_000546.6(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.533del (p.His178fs)
NM_000546.6(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) rs397514495
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.560-19_560-9del rs2073351094
NM_000546.6(TP53):c.560-1G>C rs1202793339
NM_000546.6(TP53):c.563del (p.Leu188fs) rs1597368970
NM_000546.6(TP53):c.569del (p.Pro190fs) rs1597368891
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.575del (p.Gln192fs)
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.58del (p.Ser20fs) rs1131691018
NM_000546.6(TP53):c.592del (p.Glu198fs) rs1131691035
NM_000546.6(TP53):c.599del (p.Asn200fs) rs1131691011
NM_000546.6(TP53):c.602dup (p.Leu201fs)
NM_000546.6(TP53):c.610G>T (p.Glu204Ter) rs2073336758
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.615T>A (p.Tyr205Ter) rs786202222
NM_000546.6(TP53):c.623A>T (p.Asp208Val) rs1464727668
NM_000546.6(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.6(TP53):c.629del (p.Asn210fs)
NM_000546.6(TP53):c.631A>C (p.Thr211Pro) rs1060501198
NM_000546.6(TP53):c.631_632del (p.Thr211fs)
NM_000546.6(TP53):c.635_636del (p.Phe212fs) rs864309495
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.642_643del (p.His214fs) rs1597368095
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.643_644dup (p.Ser215fs) rs1555525759
NM_000546.6(TP53):c.643del (p.Ser215fs)
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.647T>G (p.Val216Gly) rs1057520004
NM_000546.6(TP53):c.649del (p.Val217fs)
NM_000546.6(TP53):c.651_666del (p.Val218fs) rs786202315
NM_000546.6(TP53):c.655_670del (p.Pro219fs) rs1555525710
NM_000546.6(TP53):c.657del (p.Tyr220fs)
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.660T>A (p.Tyr220Ter) rs1567551150
NM_000546.6(TP53):c.662del (p.Glu221fs) rs878854071
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.673-1G>A rs878854073
NM_000546.6(TP53):c.673-2A>G rs1555525585
NM_000546.6(TP53):c.683_686del (p.Asp228fs)
NM_000546.6(TP53):c.695T>G (p.Ile232Ser) rs587781589
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.708del (p.Asn235_Tyr236insTer)
NM_000546.6(TP53):c.710_718del (p.Met237_Asn239del)
NM_000546.6(TP53):c.711G>C (p.Met237Ile)
NM_000546.6(TP53):c.712T>A (p.Cys238Ser) rs1057519981
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.713_714del (p.Met237_Cys238insTer) rs1555525539
NM_000546.6(TP53):c.714T>A (p.Cys238Ter)
NM_000546.6(TP53):c.714del (p.Met237_Cys238insTer) rs1555525537
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.715_722delinsT (p.Asn239fs)
NM_000546.6(TP53):c.718A>C (p.Ser240Arg) rs1567549584
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.723del (p.Cys242fs) rs2151021244
NM_000546.6(TP53):c.724T>C (p.Cys242Arg) rs1057519982
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del) rs1555525486
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.6(TP53):c.737T>G (p.Met246Arg) rs587780074
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.6(TP53):c.752T>C (p.Ile251Thr) rs730882027
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) rs730882027
NM_000546.6(TP53):c.752del (p.Ile251fs)
NM_000546.6(TP53):c.754del (p.Leu252fs) rs1555525470
NM_000546.6(TP53):c.757A>G (p.Thr253Ala) rs1597364185
NM_000546.6(TP53):c.757dup (p.Thr253fs)
NM_000546.6(TP53):c.761T>A (p.Ile254Asn) rs1330865474
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000546.6(TP53):c.761T>G (p.Ile254Ser) rs1330865474
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_000546.6(TP53):c.766_770delinsCAGGTCAGGACATCCA (p.Thr256fs) rs876659098
NM_000546.6(TP53):c.769del (p.Leu257fs)
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.772G>T (p.Glu258Ter) rs121912652
NM_000546.6(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.783-2A>C rs1060501207
NM_000546.6(TP53):c.783-2A>G rs1060501207
NM_000546.6(TP53):c.785del (p.Gly262fs) rs879253905
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
NM_000546.6(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.6(TP53):c.801dup (p.Asn268fs) rs1597362206
NM_000546.6(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_000546.6(TP53):c.808_817del (p.Phe270fs) rs587781987
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.80del (p.Pro27fs) rs1192416464
NM_000546.6(TP53):c.810T>A (p.Phe270Leu) rs1057519987
NM_000546.6(TP53):c.810dup (p.Glu271Ter) rs1567548114
NM_000546.6(TP53):c.811G>T (p.Glu271Ter) rs1060501191
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>C (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.819dup (p.Val274fs)
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>G (p.Cys275Gly) rs1057519983
NM_000546.6(TP53):c.823dup (p.Cys275fs)
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.6(TP53):c.827C>G (p.Ala276Gly) rs786202082
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.837_846del (p.Arg280fs)
NM_000546.6(TP53):c.837del (p.Arg280fs)
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.840A>C (p.Arg280Ser) rs1567547687
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842_843insG (p.Asp281fs) rs1555525226
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.843_862del (p.Asp281fs)
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.844del (p.Arg282fs) rs1131691027
NM_000546.6(TP53):c.848_849del (p.Arg283fs) rs2073188904
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.861_862dup (p.Asn288fs) rs1555525158
NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs) rs1555525156
NM_000546.6(TP53):c.86_96+4del rs1555526916
NM_000546.6(TP53):c.872_890dup (p.His297fs) rs2151014403
NM_000546.6(TP53):c.880G>T (p.Glu294Ter) rs1057520607
NM_000546.6(TP53):c.880del (p.Glu294fs)
NM_000546.6(TP53):c.890del (p.His297fs)
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000546.6(TP53):c.89del (p.Asn30fs)
NM_000546.6(TP53):c.902del (p.Pro301fs) rs876660726
NM_000546.6(TP53):c.906del (p.Ser303fs) rs786202055
NM_000546.6(TP53):c.909_916dup (p.Arg306fs) rs1597360326
NM_000546.6(TP53):c.90del (p.Asn30fs)
NM_000546.6(TP53):c.913A>T (p.Lys305Ter) rs1597360340
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.919+2T>G rs1131691016
NM_000546.6(TP53):c.91dup (p.Val31fs)
NM_000546.6(TP53):c.920-1G>A rs587781702
NM_000546.6(TP53):c.920-1G>T rs587781702
NM_000546.6(TP53):c.932dup (p.Asn311fs)
NM_000546.6(TP53):c.93del (p.Leu32fs) rs2151045484
NM_000546.6(TP53):c.945_946del (p.Gln317fs) rs2151011929
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000546.6(TP53):c.950del (p.Gln317fs) rs1555524976
NM_000546.6(TP53):c.951_954del (p.Pro318fs) rs1597359403
NM_000546.6(TP53):c.951_966del (p.Gln317fs)
NM_000546.6(TP53):c.958A>T (p.Lys320Ter) rs2151011624
NM_000546.6(TP53):c.95del (p.Leu32fs)
NM_000546.6(TP53):c.96+1G>C rs1131691003
NM_000546.6(TP53):c.965del (p.Pro322fs)
NM_000546.6(TP53):c.97-1G>A rs1597375294
NM_000546.6(TP53):c.97-4_104del
NM_000546.6(TP53):c.973G>T (p.Gly325Ter) rs863224500
NM_000546.6(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_000546.6(TP53):c.976_977dup (p.Tyr327fs) rs1597359235
NM_000546.6(TP53):c.97dup (p.Ser33fs) rs1131691041
NM_000546.6(TP53):c.988del (p.Leu330fs) rs2073149039
NM_000546.6(TP53):c.991C>T (p.Gln331Ter) rs1597359130
NM_000546.6(TP53):c.993+1del rs1131691033
NM_000546.6(TP53):c.994-1G>A rs587782272
NM_000546.6(TP53):c.994-1G>C rs587782272
NM_000546.6(TP53):c.994-2A>G rs867389695
NM_000546.6(TP53):c.997del (p.Arg333fs)
NM_000548.5(TSC2):c.1061_1068dup (p.Ala357fs)
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter) rs1229561585
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter) rs1596298721
NM_000548.5(TSC2):c.1126_1135del (p.Asp376fs)
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter) rs1114167462
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1358_1359delinsAA (p.Phe453Ter) rs2151165414
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1437_1438delinsG (p.Phe479fs)
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+2T>C rs45517183
NM_000548.5(TSC2):c.1600-2A>G rs1114167466
NM_000548.5(TSC2):c.160_161delinsG (p.Leu54fs)
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1717-12CT[2] rs769094940
NM_000548.5(TSC2):c.1741_1839+182del
NM_000548.5(TSC2):c.1753_1754del (p.Arg585fs)
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter) rs1596336374
NM_000548.5(TSC2):c.1764_1765del (p.Glu588fs) rs1555505103
NM_000548.5(TSC2):c.1791del (p.Tyr598fs)
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1852del (p.Leu618fs)
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1867del (p.Ala623fs)
NM_000548.5(TSC2):c.1910_1931dup (p.Val645fs)
NM_000548.5(TSC2):c.1947-2A>G rs45517207
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer) rs1555506395
NM_000548.5(TSC2):c.2180dup (p.Cys728fs)
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs) rs137854247
NM_000548.5(TSC2):c.220G>T (p.Glu74Ter)
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.226_228delinsTAA (p.His76Ter)
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs) rs1114167463
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.2633_2639+1del
NM_000548.5(TSC2):c.2637dup (p.Lys880fs)
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs) rs137854232
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2702dup (p.Leu902fs)
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2732del (p.Phe911fs)
NM_000548.5(TSC2):c.2743-1G>A rs45517263
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter) rs45438592
NM_000548.5(TSC2):c.3059_3060insCCAT (p.Glu1021fs)
NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs) rs1114167461
NM_000548.5(TSC2):c.3104del (p.Phe1035fs)
NM_000548.5(TSC2):c.3132-2A>G
NM_000548.5(TSC2):c.3164_3171dup (p.Lys1058fs)
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) rs1064796511
NM_000548.5(TSC2):c.3298del (p.Val1100fs) rs137854162
NM_000548.5(TSC2):c.337-1G>T rs45517105
NM_000548.5(TSC2):c.3398-1G>A rs45517293
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.360_361del (p.Arg120fs) rs876658878
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs) rs137854393
NM_000548.5(TSC2):c.3759del (p.Ser1254fs) rs1555512497
NM_000548.5(TSC2):c.3777del (p.Ser1259fs) rs1114167459
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.4079del (p.Glu1360fs)
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4263dup (p.Thr1422fs)
NM_000548.5(TSC2):c.4275_4294del (p.Glu1426fs)
NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter) rs45469392
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs) rs137854307
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg) rs45497997
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4522_4523insAA (p.Pro1508fs)
NM_000548.5(TSC2):c.4537del (p.Glu1513fs) rs137854028
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4566del (p.Asn1522fs)
NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter)
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4663-2A>G
NM_000548.5(TSC2):c.4827_4835delinsG (p.Cys1609fs)
NM_000548.5(TSC2):c.4849+1G>A rs45517375
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp) rs137854343
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5043C>A (p.Asn1681Lys)
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) rs45476793
NM_000548.5(TSC2):c.5111_5112dup (p.Asp1705fs)
NM_000548.5(TSC2):c.5115_5116dup (p.Arg1706fs)
NM_000548.5(TSC2):c.5161-2A>G rs1114167468
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.536_537del (p.Val179fs)
NM_000548.5(TSC2):c.690C>A (p.Cys230Ter)
NM_000548.5(TSC2):c.706dup (p.Leu236fs)
NM_000548.5(TSC2):c.751G>T (p.Glu251Ter) rs1114167465
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) rs397515097
NM_000548.5(TSC2):c.975+2T>C rs2151110209
NM_000551.3(VHL):c.464_480del17
NM_000551.4(VHL):c.163del (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.180_193del (p.Pro61fs)
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.191dup (p.Ser65fs)
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.204dup (p.Arg69fs)
NM_000551.4(VHL):c.207_208dup (p.Glu70fs)
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.4(VHL):c.212_213dup (p.Ser72fs)
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.4(VHL):c.246dup (p.Val83fs)
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250del (p.Val84fs)
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.261_262dup (p.Trp88fs)
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.264G>A (p.Trp88Ter) rs869025622
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.278del (p.Gly93fs) rs1131690964
NM_000551.4(VHL):c.286C>T (p.Gln96Ter) rs1131690959
NM_000551.4(VHL):c.304_305dup (p.Pro103fs) rs1559426145
NM_000551.4(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340G>A (p.Gly114Ser) rs869025636
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.343C>T (p.His115Tyr)
NM_000551.4(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.4(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.4(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.4(VHL):c.353T>G (p.Leu118Arg) rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.358del (p.Arg120fs) rs1131690956
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.364dup (p.Ala122fs)
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.388del (p.Val130fs) rs1553619957
NM_000551.4(VHL):c.390del (p.Asn131fs)
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.418_419insA (p.Leu140fs) rs1131690955
NM_000551.4(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.4(VHL):c.426del (p.Asp143fs)
NM_000551.4(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.4(VHL):c.461C>T (p.Pro154Leu) rs1399097617
NM_000551.4(VHL):c.463+1G>A rs869025657
NM_000551.4(VHL):c.463+1G>T rs869025657
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000551.4(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.478G>T (p.Glu160Ter)
NM_000551.4(VHL):c.481C>G (p.Arg161Gly) rs5030818
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.482G>C (p.Arg161Pro)
NM_000551.4(VHL):c.483del (p.Cys162fs) rs1696355438
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.4(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.4(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.517G>T (p.Glu173Ter) rs1575932228
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.524_527del (p.Asn174_Tyr175insTer)
NM_000551.4(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.4(VHL):c.533T>G (p.Leu178Arg) rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.543dup (p.Arg182fs) rs1131690958
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.4(VHL):c.592_607del (p.Leu198fs)
NM_000552.5(VWF):c.1147G>T (p.Glu383Ter) rs1227349336
NM_000552.5(VWF):c.1533+1G>T rs1555198839
NM_000552.5(VWF):c.3231dup (p.Glu1078fs)
NM_000612.6(IGF2):c.100G>C (p.Gly34Arg)
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000660.7(TGFB1):c.653G>A (p.Arg218His) rs104894720
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1453A>T (p.Lys485Ter) rs2101989829
NM_000702.4(ATP1A2):c.1778G>A (p.Arg593Gln) rs1553245178
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met) rs1553244746
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.568C>T (p.Gln190Ter)
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs)
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs)
NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs)
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter)
NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs)
NM_000719.7(CACNA1C):c.5716C>T (p.Arg1906Ter) rs78593627
NM_000743.5(CHRNA3):c.1103del (p.Lys368fs)
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.871G>T (p.Glu291Ter)
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000787.4(DBH):c.382C>T (p.Gln128Ter)
NM_000808.4(GABRA3):c.1421A>G (p.Tyr474Cys) rs1936960785
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe) rs1949427787
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val) rs797044930
NM_000834.5(GRIN2B):c.2011-32_2014del rs1948714266
NM_000834.5(GRIN2B):c.2249_2250dup (p.Ile751fs)
NM_000834.5(GRIN2B):c.2458G>A (p.Gly820Arg) rs1555103150
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2607C>A (p.Tyr869Ter)
NM_000834.5(GRIN2B):c.99del (p.Ser34fs)
NM_000875.5(IGF1R):c.1030del (p.Val344fs)
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys) rs1555460702
NM_000875.5(IGF1R):c.2904del (p.Asn969fs) rs1555463008
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) rs1322503729
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr) rs794726866
NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7fs) rs746815510
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) rs1553925558
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
NM_000969.5(RPL5):c.222dup (p.Val75fs)
NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.26del (p.Asn9fs)
NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)
NM_000969.5(RPL5):c.3G>A (p.Met1Ile)
NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)
NM_000969.5(RPL5):c.41del (p.Lys14fs) rs1686991727
NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)
NM_000969.5(RPL5):c.60del (p.Phe20fs)
NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)
NM_000969.5(RPL5):c.83del (p.Thr28fs)
NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)
NM_000975.5(RPL11):c.102dup (p.Arg35fs)
NM_000975.5(RPL11):c.158-1G>C
NM_000975.5(RPL11):c.158-2A>C
NM_000975.5(RPL11):c.298_299del (p.Ser100fs)
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)
NM_000975.5(RPL11):c.33del (p.Met12fs)
NM_000975.5(RPL11):c.6+2T>C
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser) rs797044891
NM_001002295.2(GATA3):c.587del (p.Leu196fs) rs1554794844
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) rs1057519510
NM_001003694.2(BRPF1):c.1414del (p.Glu472fs) rs2077000019
NM_001003694.2(BRPF1):c.1745G>A (p.Trp582Ter)
NM_001003694.2(BRPF1):c.2072dup (p.Tyr691Ter)
NM_001003694.2(BRPF1):c.2308_2309del (p.Asp770fs) rs1553696275
NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)
NM_001003694.2(BRPF1):c.2770C>T (p.Gln924Ter)
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs) rs1553693712
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)
NM_001003694.2(BRPF1):c.917del (p.Gly306fs) rs2076991221
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1170+1G>C
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1378+2T>A rs762103704
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1746T>G (p.Tyr582Ter)
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1993del (p.Leu665fs)
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2291dup (p.Asn765fs) rs1956120566
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.257dup (p.Tyr86Ter) rs1555148271
NM_001005242.3(PKP2):c.270_273delinsTGGTTGTAGATGATT (p.His91delinsGlyCysArgTer)
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.451del (p.Ser151fs)
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_001005242.3(PKP2):c.795_811dup (p.Val271fs) rs1555148090
NM_001005242.3(PKP2):c.832C>T (p.Gln278Ter)
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.964_977del (p.Gly322fs)
NM_001005242.3(PKP2):c.971_972insT (p.Ala325fs)
NM_001005273.3(CHD3):c.1618dup (p.Arg540fs)
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp) rs1064795892
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.4494del (p.Lys1500fs)
NM_001005273.3(CHD3):c.5662C>T (p.Arg1888Ter)
NM_001005373.4(LRSAM1):c.1267G>T (p.Glu423Ter)
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.831del (p.Gln278fs)
NM_001005388.3(NFASC):c.2579_2580del (p.Leu860fs)
NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter) rs2080115006
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1477_1480del (p.Leu493fs)
NM_001008537.3(NEXMIF):c.1518_1522del (p.Arg507fs) rs1556016642
NM_001008537.3(NEXMIF):c.1567dup (p.Trp523fs) rs1569335666
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2518del (p.Gln840fs)
NM_001008537.3(NEXMIF):c.2737del (p.Ser913fs)
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3493C>T (p.Gln1165Ter) rs1569335056
NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs) rs2080098372
NM_001008537.3(NEXMIF):c.4305del (p.Ser1435fs)
NM_001008537.3(NEXMIF):c.826del (p.Cys276fs)
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs)
NM_001009944.3(PKD1):c.11526G>A (p.Trp3842Ter)
NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs)
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs)
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12365G>A (p.Trp4122Ter) rs2091438383
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs)
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.235del (p.Leu79fs)
NM_001009944.3(PKD1):c.2414del (p.Gly805fs)
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.3514C>T (p.Gln1172Ter)
NM_001009944.3(PKD1):c.3706C>T (p.Gln1236Ter)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6312_6318dup (p.Glu2107delinsHisArgTer)
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.670_691del (p.Leu224fs)
NM_001009944.3(PKD1):c.6919dup (p.Glu2307fs)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter)
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs)
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter) rs779516086
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
NM_001009944.3(PKD1):c.9195_9196del (p.Phe3066fs)
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
NM_001010874.5(TECRL):c.137dup (p.Arg47fs)
NM_001010874.5(TECRL):c.202C>T (p.Gln68Ter)
NM_001010874.5(TECRL):c.206del (p.Thr69fs)
NM_001010874.5(TECRL):c.272del (p.Lys91fs)
NM_001010874.5(TECRL):c.438del (p.Leu148fs)
NM_001010874.5(TECRL):c.515_516del (p.Lys172fs)
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
NM_001010874.5(TECRL):c.616A>T (p.Lys206Ter)
NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter)
NM_001010874.5(TECRL):c.736G>T (p.Gly246Ter)
NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001011.4(RPS7):c.65_75+2delinsCTGG
NM_001011658.4(TRAPPC2):c.93+5G>A rs587776752
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802
NM_001014.5(RPS10):c.268_275del (p.Val90fs)
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001015877.2(PHF6):c.241-5_255del
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.915_916delinsAA (p.Cys305_Gly306delinsTer) rs797044908
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017980.4(VMA21):c.163+4A>G rs797044909
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018115.3(FANCD2):c.1449del (p.Ser483fs) rs2087129514
NM_001018115.3(FANCD2):c.2465T>A (p.Leu822Ter)
NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)
NM_001020658.2(PUM1):c.962_965dup (p.Ala323fs)
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001021.6(RPS17):c.60del (p.Tyr21fs)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)
NM_001022.4(RPS19):c.21del (p.Asp8fs)
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.288dup (p.Lys97fs)
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) rs144337183
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs) rs1582232661
NM_001024630.4(RUNX2):c.823del (p.Ser275fs)
NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.88del (p.Val30fs)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785
NM_001029896.2(WDR45):c.139C>T (p.Gln47Ter) rs2065046104
NM_001029896.2(WDR45):c.139dup (p.Gln47fs) rs2065046125
NM_001029896.2(WDR45):c.14del (p.Pro5fs)
NM_001029896.2(WDR45):c.180del (p.Asn61fs) rs2065045769
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001029896.2(WDR45):c.235+2T>C rs1602540211
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.408dup (p.Glu137Ter) rs1557084239
NM_001029896.2(WDR45):c.46C>T (p.Gln16Ter) rs1557084549
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) rs1557084120
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
NM_001031689.3(PLAA):c.802C>T (p.Arg268Ter)
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer) rs1784160131
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=) rs1554778227
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1304del (p.Glu435fs)
NM_001032221.6(STXBP1):c.1359+2T>C rs1554778509
NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter) rs767199598
NM_001032221.6(STXBP1):c.1631del (p.Gly544fs) rs1554778941
NM_001032221.6(STXBP1):c.298del (p.Arg100fs) rs1554776842
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.639dup (p.Ala214fs) rs1554777375
NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter) rs1841291684
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu) rs796053361
NM_001032221.6(STXBP1):c.956del (p.Gly319fs) rs1554777919
NM_001032221.6(STXBP1):c.989dup (p.Met330fs) rs1841564743
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032386.2(SUOX):c.423del (p.Val142fs)
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs) rs748900391
NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.3(RETREG1):c.44_71del (p.Pro15fs) rs2126388556
NM_001034852.3(SMOC1):c.809G>A (p.Trp270Ter)
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035256.2(POMC):c.20_21ins25
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001039570.3(KREMEN1):c.357del (p.Gly120fs)
NM_001039591.3(USP9X):c.1763+1G>A rs1555922391
NM_001039591.3(USP9X):c.1957G>T (p.Glu653Ter)
NM_001039591.3(USP9X):c.2877+1G>A
NM_001039591.3(USP9X):c.5634dup (p.His1879fs) rs2063210388
NM_001039591.3(USP9X):c.6611del (p.Thr2204fs) rs2063281419
NM_001039591.3(USP9X):c.82dup (p.Leu28fs) rs758083405
NM_001039591.3(USP9X):c.982_983del (p.Thr327_Val328insTer) rs2062419468
NM_001039672.3(YIF1B):c.186dup (p.Ala63fs) rs1969221767
NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) rs1697702086
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.1890_1891del (p.Ala631fs) rs1698169832
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.2388+1dup
NM_001040142.2(SCN2A):c.2504T>G (p.Leu835Ter) rs1699364897
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.3067_3068del (p.Glu1023fs) rs1553583712
NM_001040142.2(SCN2A):c.3190_3230dup (p.Ile1078fs)
NM_001040142.2(SCN2A):c.3225dup (p.Ser1076Ter)
NM_001040142.2(SCN2A):c.3254_3255del (p.Tyr1085fs)
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4407del (p.Ile1469fs)
NM_001040142.2(SCN2A):c.4648del (p.Val1550fs)
NM_001040142.2(SCN2A):c.4752del (p.Leu1585fs)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4967C>T (p.Ser1656Phe) rs1553463464
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs) rs1558885691
NM_001040142.2(SCN2A):c.5308A>T (p.Met1770Leu) rs1553463594
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter) rs1719469952
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.954dup (p.Tyr319fs)
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) rs2046109345
NM_001042492.3(NF1):c.-2_3del (p.Met1fs)
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs) rs2066509100
NM_001042492.3(NF1):c.1023_1024insGACA (p.Ile342fs) rs2143874147
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1063-13G>A rs1131691066
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.1074del (p.Phe358fs)
NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs) rs1597681960
NM_001042492.3(NF1):c.1110del (p.Ala371fs) rs2066519817
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs) rs1597682030
NM_001042492.3(NF1):c.1128dup (p.Ile377fs)
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
NM_001042492.3(NF1):c.1179del (p.Phe394fs) rs2143880536
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1185+2T>A
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.118A>T (p.Lys40Ter)
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_001042492.3(NF1):c.1224T>A (p.Tyr408Ter) rs1555611089
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1255del (p.Thr419fs) rs1555611105
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1261-2A>G rs2066618684
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_001042492.3(NF1):c.1282A>T (p.Lys428Ter)
NM_001042492.3(NF1):c.1299T>A (p.Tyr433Ter) rs876660099
NM_001042492.3(NF1):c.1302T>A (p.Cys434Ter) rs1555611570
NM_001042492.3(NF1):c.1307_1316del (p.Ser436fs) rs1597688786
NM_001042492.3(NF1):c.1327_1330del (p.Phe443fs)
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer) rs2143915068
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+2del rs1597689068
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter) rs1597698330
NM_001042492.3(NF1):c.1423del (p.Lys476fs)
NM_001042492.3(NF1):c.1428del (p.Lys476fs)
NM_001042492.3(NF1):c.1431_1433delinsAT (p.Phe477fs)
NM_001042492.3(NF1):c.1435_1438del (p.Glu479fs)
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter) rs2143959211
NM_001042492.3(NF1):c.1440_1441delinsG (p.Pro481fs)
NM_001042492.3(NF1):c.1450del (p.Leu484fs) rs2143959373
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
NM_001042492.3(NF1):c.146dup (p.Tyr49Ter)
NM_001042492.3(NF1):c.1502del (p.His501fs)
NM_001042492.3(NF1):c.1522del (p.Leu508fs) rs1952238027
NM_001042492.3(NF1):c.1527+1G>T rs1060500331
NM_001042492.3(NF1):c.1527+1del rs2143960866
NM_001042492.3(NF1):c.1527+2T>G rs1064796700
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.154_158del (p.Ser52fs)
NM_001042492.3(NF1):c.154del (p.Ser52fs) rs1131691109
NM_001042492.3(NF1):c.1551_1564del (p.Glu517fs) rs1131691068
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_001042492.3(NF1):c.1584del (p.Leu529fs) rs876658693
NM_001042492.3(NF1):c.1587del (p.Val530fs)
NM_001042492.3(NF1):c.1630del (p.Glu544fs)
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter) rs2066877587
NM_001042492.3(NF1):c.1642-3C>G rs1597706610
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1661_1663dup (p.Leu555Ter)
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_001042492.3(NF1):c.166del (p.Ser56fs)
NM_001042492.3(NF1):c.1711del (p.Trp571fs) rs1597706737
NM_001042492.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_001042492.3(NF1):c.1721+1G>T rs1131691096
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg) rs2144015494
NM_001042492.3(NF1):c.1724C>G (p.Ser575Ter) rs915463951
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_001042492.3(NF1):c.1729del (p.Met577fs)
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1759dup (p.Ser587fs)
NM_001042492.3(NF1):c.1761_1762del (p.Ser587fs)
NM_001042492.3(NF1):c.176del (p.Thr59fs)
NM_001042492.3(NF1):c.1788del (p.Leu597fs)
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_001042492.3(NF1):c.1811T>A (p.Leu604Ter) rs1555613427
NM_001042492.3(NF1):c.1818C>A (p.Cys606Ter) rs1567845937
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.1845+1G>T
NM_001042492.3(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.1846-569A>C
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_001042492.3(NF1):c.1884_1885delinsTAA (p.Gly629fs)
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1902_1959dup (p.Pro654delinsSerPheTer)
NM_001042492.3(NF1):c.1907dup (p.Ser636_Ser637insTer)
NM_001042492.3(NF1):c.1917dup (p.Thr640fs)
NM_001042492.3(NF1):c.191del (p.Asn64fs) rs1555604941
NM_001042492.3(NF1):c.1929_1932del (p.Met643fs)
NM_001042492.3(NF1):c.1934dup (p.Met645fs)
NM_001042492.3(NF1):c.1954del (p.Arg652fs) rs1597710675
NM_001042492.3(NF1):c.1955del (p.Arg652fs) rs1597710690
NM_001042492.3(NF1):c.1961del (p.Pro654fs) rs1131691108
NM_001042492.3(NF1):c.1985_1986del (p.Lys662fs) rs2066993468
NM_001042492.3(NF1):c.1995del (p.Ser666fs) rs2066993840
NM_001042492.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_001042492.3(NF1):c.1A>T (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.2007_2010dup (p.Ala671fs)
NM_001042492.3(NF1):c.2016_2031del (p.Cys673fs)
NM_001042492.3(NF1):c.2023G>T (p.Gly675Ter)
NM_001042492.3(NF1):c.2033_2034delinsA (p.Pro678fs) rs2151425601
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2034del (p.Ile679fs) rs1567847384
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_001042492.3(NF1):c.2036_2043dup (p.Gln682fs) rs2151425597
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2047_2057dup (p.Leu687fs) rs1597712403
NM_001042492.3(NF1):c.205-2A>C rs1597629679
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter) rs1131691099
NM_001042492.3(NF1):c.2098del (p.Thr700fs)
NM_001042492.3(NF1):c.2109_2122del (p.Val705fs)
NM_001042492.3(NF1):c.2132_2136dup (p.Leu713fs)
NM_001042492.3(NF1):c.2136_2142del (p.His712fs) rs1555613811
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter) rs141382637
NM_001042492.3(NF1):c.2158del (p.Arg720fs) rs1597712619
NM_001042492.3(NF1):c.2160dup (p.Cys721fs)
NM_001042492.3(NF1):c.2166_2170del (p.Gly722_Val723insTer)
NM_001042492.3(NF1):c.2178del (p.Ser727fs) rs786202954
NM_001042492.3(NF1):c.2189dup (p.Asn730fs)
NM_001042492.3(NF1):c.2229dup (p.Val744fs) rs2067020544
NM_001042492.3(NF1):c.2237del (p.Asn746fs) rs1555613838
NM_001042492.3(NF1):c.2251+1G>A rs1555613843
NM_001042492.3(NF1):c.2251+2T>G rs864622142
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2274_2275del (p.Arg758fs) rs2151426874
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2294_2295del (p.Arg765fs) rs2067031470
NM_001042492.3(NF1):c.2294del (p.Arg765fs) rs2151426934
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-2A>G rs1555613975
NM_001042492.3(NF1):c.2326-2A>T
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2330G>A (p.Trp777Ter) rs199474745
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.2388del (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2388dup (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2395del (p.Met799fs)
NM_001042492.3(NF1):c.2398G>T (p.Glu800Ter) rs2151427599
NM_001042492.3(NF1):c.239_240del (p.Tyr80fs)
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2409+1G>T rs1555614022
NM_001042492.3(NF1):c.2409+2T>G rs876660826
NM_001042492.3(NF1):c.240T>G (p.Tyr80Ter)
NM_001042492.3(NF1):c.2410-1G>A rs1057518792
NM_001042492.3(NF1):c.2429_2493del (p.Lys810fs) rs1597715102
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.246_247del (p.Gln83fs) rs771115661
NM_001042492.3(NF1):c.2483del (p.Leu828fs) rs1131691069
NM_001042492.3(NF1):c.2491del (p.Thr831fs)
NM_001042492.3(NF1):c.2494del (p.Asp832fs)
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg) rs199474747
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2589T>G (p.Tyr863Ter) rs587782814
NM_001042492.3(NF1):c.2589_2592del (p.Ser864fs) rs876658207
NM_001042492.3(NF1):c.2610_2613dup (p.Glu872delinsGlnTer)
NM_001042492.3(NF1):c.2621_2634dup (p.Ser879delinsArgValLeuTer) rs1597715490
NM_001042492.3(NF1):c.2622_2623insA (p.Gly875fs) rs587781933
NM_001042492.3(NF1):c.2648C>G (p.Ser883Ter)
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2666del (p.Thr889fs)
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.2679del (p.Lys893fs) rs2067071059
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2728_2729del (p.Gly910fs) rs1555614313
NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter) rs1597715673
NM_001042492.3(NF1):c.2753del (p.Lys918fs) rs1131691078
NM_001042492.3(NF1):c.276del (p.Lys92fs)
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2810del (p.Lys936_Leu937insTer) rs2067074098
NM_001042492.3(NF1):c.2820_2826del (p.Ile941fs) rs1597715824
NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_001042492.3(NF1):c.2829dup (p.Phe944fs)
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter) rs1567849208
NM_001042492.3(NF1):c.284del (p.Ala95fs) rs1597629895
NM_001042492.3(NF1):c.2850+1G>T rs1131691122
NM_001042492.3(NF1):c.2850G>A (p.Gln950=) rs863224446
NM_001042492.3(NF1):c.2851-1G>T rs1597716274
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2855del (p.Leu952fs)
NM_001042492.3(NF1):c.2870del (p.Asn957fs) rs1555614423
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter) rs2151430537
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.288+1del rs1057519370
NM_001042492.3(NF1):c.288+2025T>G
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter) rs1597635615
NM_001042492.3(NF1):c.28_34del (p.Val10fs)
NM_001042492.3(NF1):c.28dup (p.Val10fs)
NM_001042492.3(NF1):c.2906del (p.Lys969fs)
NM_001042492.3(NF1):c.2918del (p.Asp973fs)
NM_001042492.3(NF1):c.2934del (p.Ser979fs) rs1555614448
NM_001042492.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2978T>A (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro) rs753082620
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.2T>C (p.Met1Thr) rs886041346
NM_001042492.3(NF1):c.2T>G (p.Met1Arg) rs886041346
NM_001042492.3(NF1):c.3000dup (p.Val1001fs)
NM_001042492.3(NF1):c.3010_3017dup (p.His1007fs)
NM_001042492.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_001042492.3(NF1):c.3046dup (p.Cys1016fs) rs2151431612
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter) rs2067091604
NM_001042492.3(NF1):c.3074_3096dup (p.Gln1033fs) rs1555614527
NM_001042492.3(NF1):c.3079_3106del (p.Asp1027fs)
NM_001042492.3(NF1):c.3082_3088del (p.Asp1028fs)
NM_001042492.3(NF1):c.3089C>G (p.Ser1030Ter) rs1567849864
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_001042492.3(NF1):c.3102_3103del (p.Glu1034fs)
NM_001042492.3(NF1):c.3108del (p.Lys1036fs)
NM_001042492.3(NF1):c.3111del (p.Phe1037fs) rs1131691127
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3113+5G>A rs1555614549
NM_001042492.3(NF1):c.3158C>A (p.Ser1053Ter) rs1597717610
NM_001042492.3(NF1):c.3158C>G (p.Ser1053Ter) rs1597717610
NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_001042492.3(NF1):c.3183_3189del (p.Lys1062fs)
NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.319del (p.Thr107fs) rs1131691116
NM_001042492.3(NF1):c.31C>T (p.Gln11Ter) rs876658658
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter) rs786202023
NM_001042492.3(NF1):c.3227dup (p.Val1077fs) rs1597718765
NM_001042492.3(NF1):c.3251del (p.Pro1084fs)
NM_001042492.3(NF1):c.3253_3254del (p.Leu1085fs)
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter) rs2067123355
NM_001042492.3(NF1):c.325del (p.Leu109fs)
NM_001042492.3(NF1):c.3262G>T (p.Glu1088Ter) rs2151433803
NM_001042492.3(NF1):c.3271_3272dup (p.Asp1091fs)
NM_001042492.3(NF1):c.3284T>A (p.Leu1095Ter)
NM_001042492.3(NF1):c.3301C>T (p.Gln1101Ter) rs2151433888
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3306del (p.Leu1102fs)
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3315-10_3335del rs2151434411
NM_001042492.3(NF1):c.3315-2A>C rs1555614914
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3323del (p.Thr1108fs) rs2151434456
NM_001042492.3(NF1):c.3324dup (p.Leu1109fs) rs2151434460
NM_001042492.3(NF1):c.3330_3333del (p.Phe1110fs)
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer) rs2067134394
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.3352_3353del (p.Cys1117_Ser1118insTer)
NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter) rs1555614940
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_001042492.3(NF1):c.3380del (p.Thr1127fs) rs1597719498
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3392_3393del (p.Lys1131fs)
NM_001042492.3(NF1):c.3419C>A (p.Ser1140Ter)
NM_001042492.3(NF1):c.3422_3423del (p.Leu1141fs)
NM_001042492.3(NF1):c.3426del (p.Arg1142fs)
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3488_3491delinsTGACATGCT (p.His1163fs)
NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser) rs1597719704
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg)
NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_001042492.3(NF1):c.3514del (p.Asp1172fs) rs876660580
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_001042492.3(NF1):c.3604_3616del (p.Ala1202fs)
NM_001042492.3(NF1):c.3604del (p.Ala1202fs) rs1597720036
NM_001042492.3(NF1):c.3607_3614del (p.Ala1202_Asp1203insTer)
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3623del (p.Leu1208fs)
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3662del (p.Leu1221fs)
NM_001042492.3(NF1):c.366del (p.His122fs)
NM_001042492.3(NF1):c.367_368del (p.Thr123fs) rs1597635793
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3720_3721del (p.Arg1241fs)
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.372T>A (p.Cys124Ter)
NM_001042492.3(NF1):c.372del (p.Arg125fs)
NM_001042492.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3762C>A (p.Tyr1254Ter)
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_001042492.3(NF1):c.3765dup (p.Leu1256fs)
NM_001042492.3(NF1):c.3778_3782del (p.Met1260fs) rs1555615462
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs) rs786203614
NM_001042492.3(NF1):c.3822_3823dup (p.Phe1275fs)
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter) rs2143672195
NM_001042492.3(NF1):c.3866_3867insACCC (p.Phe1289fs)
NM_001042492.3(NF1):c.3866del (p.Phe1289fs)
NM_001042492.3(NF1):c.3870+1G>A rs1131691075
NM_001042492.3(NF1):c.3871-1G>A rs1567852753
NM_001042492.3(NF1):c.3871-2A>G rs1131691077
NM_001042492.3(NF1):c.3876T>A (p.Tyr1292Ter)
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3897del (p.Lys1299fs) rs878853890
NM_001042492.3(NF1):c.3898del (p.Leu1300fs)
NM_001042492.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs) rs786203500
NM_001042492.3(NF1):c.3903delinsTTATTACGAATTGT (p.Asp1302fs)
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3921del (p.Ile1307fs)
NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter) rs876658235
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter) rs2067194816
NM_001042492.3(NF1):c.3943C>T (p.Gln1315Ter) rs2067194846
NM_001042492.3(NF1):c.3948dup (p.Val1317fs) rs1555615559
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3974+2T>G
NM_001042492.3(NF1):c.3975-1G>A rs1060500370
NM_001042492.3(NF1):c.3975-2A>G rs864622431
NM_001042492.3(NF1):c.3975-2A>T rs864622431
NM_001042492.3(NF1):c.3991_3992del (p.Ser1331fs)
NM_001042492.3(NF1):c.3991del (p.Ser1331fs) rs2151451319
NM_001042492.3(NF1):c.3G>A (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.3G>C (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.4004del (p.Asn1335fs)
NM_001042492.3(NF1):c.4006_4007del (p.Gln1336fs)
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_001042492.3(NF1):c.407del (p.Asn136fs)
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.40_52del (p.Val14fs)
NM_001042492.3(NF1):c.4102_4103del (p.Leu1368fs)
NM_001042492.3(NF1):c.4103T>A (p.Leu1368Ter)
NM_001042492.3(NF1):c.4108C>T (p.Gln1370Ter) rs868573462
NM_001042492.3(NF1):c.4109del (p.Gln1370fs) rs2151451681
NM_001042492.3(NF1):c.4110+1G>A rs1555617383
NM_001042492.3(NF1):c.4110+945A>G rs2067468999
NM_001042492.3(NF1):c.4174-2A>G rs1555618489
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4192_4193dup (p.Gln1399fs)
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4195del (p.Gln1399fs)
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
NM_001042492.3(NF1):c.421del (p.Val141fs) rs1131691119
NM_001042492.3(NF1):c.4231del (p.Leu1411fs)
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4259C>G (p.Ser1420Ter)
NM_001042492.3(NF1):c.4263del (p.Tyr1422fs) rs1555618542
NM_001042492.3(NF1):c.4266T>G (p.Tyr1422Ter) rs2151462060
NM_001042492.3(NF1):c.4266dup (p.Glu1423Ter) rs876659964
NM_001042492.3(NF1):c.4280del (p.Ile1426_Leu1427insTer)
NM_001042492.3(NF1):c.4300A>T (p.Arg1434Ter) rs2067623934
NM_001042492.3(NF1):c.4313del (p.Gly1438fs) rs2151462156
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4331A>C (p.Lys1444Thr)
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4333del (p.Ile1445fs) rs1597745559
NM_001042492.3(NF1):c.4339C>A (p.Gln1447Lys) rs1135402857
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu) rs1135402857
NM_001042492.3(NF1):c.4364_4380del (p.Phe1455fs)
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter) rs1567862353
NM_001042492.3(NF1):c.4431-1G>A rs1597746891
NM_001042492.3(NF1):c.4435_4436del (p.Phe1479fs)
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs) rs1555618803
NM_001042492.3(NF1):c.443del (p.Asn148fs)
NM_001042492.3(NF1):c.4457_4458delinsAA (p.Cys1486Ter)
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4477_4502del (p.Asn1493fs)
NM_001042492.3(NF1):c.4483_4484insC (p.Ser1495fs)
NM_001042492.3(NF1):c.449dup (p.Asn151fs)
NM_001042492.3(NF1):c.4506dup (p.Asn1503fs)
NM_001042492.3(NF1):c.4525del (p.Arg1509fs)
NM_001042492.3(NF1):c.4526_4533del (p.Arg1509fs)
NM_001042492.3(NF1):c.453del (p.Asn151fs)
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter) rs1060500242
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4577+357T>G
NM_001042492.3(NF1):c.4584_4585insTT (p.Lys1529fs)
NM_001042492.3(NF1):c.4587dup (p.Ala1530fs)
NM_001042492.3(NF1):c.4599del (p.Arg1533fs)
NM_001042492.3(NF1):c.4608del (p.Phe1536fs) rs2151466252
NM_001042492.3(NF1):c.4608dup (p.Asp1537Ter)
NM_001042492.3(NF1):c.4627del (p.Ala1544fs) rs1131691088
NM_001042492.3(NF1):c.4629del (p.Ala1544fs)
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.4658del (p.Pro1553fs) rs1555619029
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4684del (p.Asn1563fs) rs1555619041
NM_001042492.3(NF1):c.4686_4687dup (p.Asn1563fs)
NM_001042492.3(NF1):c.4692dup (p.Thr1565fs)
NM_001042492.3(NF1):c.4693_4694insAA (p.Thr1565fs)
NM_001042492.3(NF1):c.4693dup (p.Thr1565fs)
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4707del (p.Phe1569fs)
NM_001042492.3(NF1):c.4725-2A>C rs1295045178
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter) rs797044942
NM_001042492.3(NF1):c.4751del (p.Phe1584fs) rs2151470069
NM_001042492.3(NF1):c.4765_4777del (p.Thr1589fs)
NM_001042492.3(NF1):c.4765del (p.Thr1589fs) rs1131691098
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.479+2T>G
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.480-1G>A rs2065902916
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs) rs876658492
NM_001042492.3(NF1):c.4821T>G (p.Tyr1607Ter) rs1555619416
NM_001042492.3(NF1):c.4824T>G (p.Tyr1608Ter) rs1567865089
NM_001042492.3(NF1):c.482T>G (p.Leu161Ter)
NM_001042492.3(NF1):c.4836-2A>C rs1555533265
NM_001042492.3(NF1):c.4849C>T (p.Gln1617Ter)
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4854del (p.Asn1619fs)
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs) rs1555533284
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
NM_001042492.3(NF1):c.4904_4905insAAT (p.Tyr1635Ter) rs587781780
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
NM_001042492.3(NF1):c.4928del (p.Val1643fs) rs2151537791
NM_001042492.3(NF1):c.492_495del (p.Thr165fs)
NM_001042492.3(NF1):c.4947del (p.Pro1650fs) rs2151537841
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.4977dup (p.Ser1660fs) rs1597829782
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) rs1567611375
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.4998dup (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5006_5007dup (p.Ala1670fs)
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.5023_5024del (p.Ser1675fs) rs876660286
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
NM_001042492.3(NF1):c.5046del (p.Asn1681_Cys1682insTer)
NM_001042492.3(NF1):c.5061_5064dup (p.Tyr1689fs)
NM_001042492.3(NF1):c.5062del (p.Glu1688fs)
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter) rs756708811
NM_001042492.3(NF1):c.5076T>A (p.Tyr1692Ter) rs1597829961
NM_001042492.3(NF1):c.5080G>T (p.Glu1694Ter)
NM_001042492.3(NF1):c.5087del (p.Leu1696fs) rs1555533368
NM_001042492.3(NF1):c.5115dup (p.Leu1706fs)
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.517del (p.Asp173fs) rs1597643815
NM_001042492.3(NF1):c.5186_5187insG (p.Thr1730fs)
NM_001042492.3(NF1):c.520del (p.Val174fs)
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs) rs1555533409
NM_001042492.3(NF1):c.5254A>T (p.Lys1752Ter)
NM_001042492.3(NF1):c.5265_5268del (p.Ile1755fs)
NM_001042492.3(NF1):c.5265del (p.Val1757fs)
NM_001042492.3(NF1):c.5269-1G>A rs876660141
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5313del (p.Val1772fs) rs2151540910
NM_001042492.3(NF1):c.5318_5319del (p.Leu1773fs)
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter) rs2069376973
NM_001042492.3(NF1):c.5327del (p.Gln1775_Ser1776insTer) rs1131691128
NM_001042492.3(NF1):c.5329del (p.Val1777fs) rs2069377259
NM_001042492.3(NF1):c.5352T>G (p.Tyr1784Ter)
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
NM_001042492.3(NF1):c.5364del (p.Ile1788fs) rs1597831986
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter) rs1597832002
NM_001042492.3(NF1):c.539del (p.Leu180fs)
NM_001042492.3(NF1):c.5400del (p.Thr1800_Leu1801insTer)
NM_001042492.3(NF1):c.5416dup (p.Gln1806fs)
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5464C>T (p.Gln1822Ter) rs2069381323
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5488del (p.Arg1830fs)
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter) rs2069382585
NM_001042492.3(NF1):c.5494G>T (p.Glu1832Ter) rs2069382639
NM_001042492.3(NF1):c.5496del (p.Glu1832fs) rs2151541558
NM_001042492.3(NF1):c.5514_5517del (p.Ile1839fs) rs1555533621
NM_001042492.3(NF1):c.5516dup (p.Gln1841fs)
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5527_5528del (p.Thr1843fs)
NM_001042492.3(NF1):c.5535del (p.Arg1846fs) rs1567612647
NM_001042492.3(NF1):c.5544del (p.Asp1849fs)
NM_001042492.3(NF1):c.5552del (p.Pro1851fs)
NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg) rs878853903
NM_001042492.3(NF1):c.5567del (p.Asn1856fs)
NM_001042492.3(NF1):c.5581_5586delinsG (p.Asn1861fs)
NM_001042492.3(NF1):c.5585T>A (p.Leu1862Ter) rs2151541881
NM_001042492.3(NF1):c.5594_5595del (p.Ser1864_Ser1865insTer) rs1555533650
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.3(NF1):c.5609+1G>A rs1131691117
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_001042492.3(NF1):c.5610-1G>C rs1567613569
NM_001042492.3(NF1):c.5610-1G>T
NM_001042492.3(NF1):c.5610-2A>G rs1135402876
NM_001042492.3(NF1):c.5612C>G (p.Ser1871Ter)
NM_001042492.3(NF1):c.5617del (p.Ala1873fs)
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5619dup (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs) rs1131691081
NM_001042492.3(NF1):c.5686dup (p.Ser1896fs)
NM_001042492.3(NF1):c.5687C>A (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.5708del (p.Asn1903fs)
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs) rs876660212
NM_001042492.3(NF1):c.5737A>T (p.Lys1913Ter) rs1597834842
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5746dup (p.Ala1916fs)
NM_001042492.3(NF1):c.5768_5769insA (p.Leu1924fs)
NM_001042492.3(NF1):c.576dup (p.Leu193fs)
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter)
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5786del (p.Glu1929fs) rs1555533883
NM_001042492.3(NF1):c.5792_5812+7del
NM_001042492.3(NF1):c.5812+1G>A rs876658854
NM_001042492.3(NF1):c.5813-184_5813-178dup
NM_001042492.3(NF1):c.5818G>T (p.Glu1940Ter) rs1376900184
NM_001042492.3(NF1):c.5821_5825del (p.Leu1941fs) rs2151550241
NM_001042492.3(NF1):c.5829_5830insTG (p.Leu1944fs) rs1597840008
NM_001042492.3(NF1):c.5835T>A (p.Cys1945Ter) rs1555534380
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter) rs587782088
NM_001042492.3(NF1):c.5853_5855delinsC (p.Trp1952fs)
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter) rs1555534393
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.586+1G>T rs1555607126
NM_001042492.3(NF1):c.586+2T>A
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter) rs2069602711
NM_001042492.3(NF1):c.5866del (p.Asn1955_Leu1956insTer)
NM_001042492.3(NF1):c.5894_5895del (p.Asp1965fs)
NM_001042492.3(NF1):c.5898del (p.Lys1967fs)
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.5925del (p.Asp1976fs) rs1060500349
NM_001042492.3(NF1):c.5943_5965dup (p.Tyr1989Ter)
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter) rs876659070
NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs) rs1597840273
NM_001042492.3(NF1):c.5977C>T (p.Gln1993Ter)
NM_001042492.3(NF1):c.5989del (p.Trp1997fs)
NM_001042492.3(NF1):c.5990G>A (p.Trp1997Ter)
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.60+1del
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter) rs1567615941
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6007-1G>C rs1555534596
NM_001042492.3(NF1):c.6007-2A>C
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6009del (p.Thr2004fs) rs1179712488
NM_001042492.3(NF1):c.6013del (p.Asp2005fs) rs1597842221
NM_001042492.3(NF1):c.6049_6050del (p.Thr2017fs)
NM_001042492.3(NF1):c.6088_6092delinsCAC (p.Val2030fs)
NM_001042492.3(NF1):c.61-2A>G rs1131691100
NM_001042492.3(NF1):c.61-2A>T rs1131691100
NM_001042492.3(NF1):c.6132del (p.Lys2044fs)
NM_001042492.3(NF1):c.6136dup (p.Val2046fs) rs1555534618
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.6147+1G>T rs1060500296
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6149_6150delinsGGC (p.Val2050fs) rs1597842710
NM_001042492.3(NF1):c.6202_6257dup (p.Leu2086_Met2087insLeuTer)
NM_001042492.3(NF1):c.6220dup (p.Met2074fs) rs1555534673
NM_001042492.3(NF1):c.6224G>A (p.Trp2075Ter) rs2151554507
NM_001042492.3(NF1):c.6253del (p.Met2085fs)
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_001042492.3(NF1):c.6267_6273del (p.Phe2090fs)
NM_001042492.3(NF1):c.6277del (p.Ser2093fs)
NM_001042492.3(NF1):c.629T>G (p.Leu210Ter) rs876658570
NM_001042492.3(NF1):c.6303_6315dup (p.Val2106fs)
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs) rs1597842936
NM_001042492.3(NF1):c.6306_6307insT (p.Leu2103fs) rs876659471
NM_001042492.3(NF1):c.6307del (p.Leu2103fs) rs1131691125
NM_001042492.3(NF1):c.6314dup (p.His2105fs)
NM_001042492.3(NF1):c.6325_6326delinsA (p.Phe2109fs)
NM_001042492.3(NF1):c.6334del (p.Ala2112fs) rs1555534735
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
NM_001042492.3(NF1):c.6358_6359insTTTAA (p.Ala2120delinsValTer) rs1131691133
NM_001042492.3(NF1):c.6374_6377delinsAC (p.Leu2125fs)
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs) rs1567617129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6410C>G (p.Ser2137Ter) rs2069691055
NM_001042492.3(NF1):c.6412C>T (p.Gln2138Ter) rs2069691114
NM_001042492.3(NF1):c.641dup (p.Asn214fs)
NM_001042492.3(NF1):c.6427+1G>A rs2151555200
NM_001042492.3(NF1):c.643del (p.Ser215fs) rs1597658192
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.6484del (p.Tyr2162fs) rs2151556124
NM_001042492.3(NF1):c.6486C>G (p.Tyr2162Ter) rs2069704625
NM_001042492.3(NF1):c.6488del (p.Leu2163fs) rs2151556143
NM_001042492.3(NF1):c.6499_6502delinsTG (p.Ile2167fs)
NM_001042492.3(NF1):c.6502del (p.Ser2168fs)
NM_001042492.3(NF1):c.6503del (p.Ser2168fs) rs1597843782
NM_001042492.3(NF1):c.6513_6514delinsTGA (p.Lys2171fs)
NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs) rs786203806
NM_001042492.3(NF1):c.6523_6524del (p.Val2175fs)
NM_001042492.3(NF1):c.6525_6537del (p.Ile2176fs) rs1131691071
NM_001042492.3(NF1):c.653dup (p.Ala219fs) rs1131691094
NM_001042492.3(NF1):c.654+2T>A rs2143774762
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.655-1G>A rs2143777263
NM_001042492.3(NF1):c.6557C>A (p.Ser2186Ter)
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter) rs1131691091
NM_001042492.3(NF1):c.6569_6570del (p.Gly2190fs) rs1131691076
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6587_6588delinsG (p.Thr2196fs)
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs) rs2069707755
NM_001042492.3(NF1):c.6616_6619delinsCA (p.Thr2206fs)
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.663G>A (p.Trp221Ter) rs1555608737
NM_001042492.3(NF1):c.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.6668del (p.Cys2223fs)
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.6686G>A (p.Trp2229Ter) rs2151557496
NM_001042492.3(NF1):c.6686_6697delinsCA (p.Trp2229fs)
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter) rs1597844653
NM_001042492.3(NF1):c.6697del (p.Ala2233fs)
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_001042492.3(NF1):c.6700C>T (p.Gln2234Ter) rs1567617727
NM_001042492.3(NF1):c.6704+1G>A rs1060500376
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter) rs1131691093
NM_001042492.3(NF1):c.6751_6754dup (p.Phe2252fs)
NM_001042492.3(NF1):c.6756del (p.Phe2252fs)
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6789del (p.Gln2263_Ile2264insTer)
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_001042492.3(NF1):c.6819+3A>C
NM_001042492.3(NF1):c.6820-2A>C rs2151559073
NM_001042492.3(NF1):c.6820G>T (p.Ala2274Ser) rs1555535023
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6858_6859del (p.Asn2286fs) rs1555535044
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6906del (p.Gln2302fs) rs1597846091
NM_001042492.3(NF1):c.6914_6915insATTAT (p.Asn2306fs)
NM_001042492.3(NF1):c.6915_6916dup (p.Asn2306fs) rs1555535052
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6921+2del
NM_001042492.3(NF1):c.6921+4A>G rs752841251
NM_001042492.3(NF1):c.6922-1G>C rs1131691115
NM_001042492.3(NF1):c.6936_6954del (p.His2312fs)
NM_001042492.3(NF1):c.6963dup (p.Val2322fs)
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.6972del (p.Gln2324fs)
NM_001042492.3(NF1):c.6993_7008del (p.Ser2332fs) rs1555535177
NM_001042492.3(NF1):c.699del (p.Lys233fs)
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter) rs1060500359
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.7028_7031del (p.His2343fs) rs1131691083
NM_001042492.3(NF1):c.702_711delinsATA (p.Gln236fs)
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs) rs1597848201
NM_001042492.3(NF1):c.7038del (p.Asp2346fs)
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter) rs769048538
NM_001042492.3(NF1):c.7062+1G>A rs863224492
NM_001042492.3(NF1):c.7063-1G>T rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
NM_001042492.3(NF1):c.706dup (p.Gln236fs) rs1597658661
NM_001042492.3(NF1):c.7081del (p.Met2361fs)
NM_001042492.3(NF1):c.7102del (p.Glu2368fs) rs1131691082
NM_001042492.3(NF1):c.7107G>A (p.Trp2369Ter) rs1060500286
NM_001042492.3(NF1):c.7110_7111del (p.His2370fs) rs1555535416
NM_001042492.3(NF1):c.7114A>T (p.Lys2372Ter) rs776506332
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7160del (p.Asn2387fs)
NM_001042492.3(NF1):c.7163_7164del (p.Phe2388fs)
NM_001042492.3(NF1):c.7171del (p.Val2391fs) rs2151565274
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs) rs777872719
NM_001042492.3(NF1):c.7188dup (p.Gly2397fs)
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001042492.3(NF1):c.7195del (p.Arg2399fs) rs1131691102
NM_001042492.3(NF1):c.7209del (p.Ala2404fs) rs2070074227
NM_001042492.3(NF1):c.7229_7232del (p.Val2410fs)
NM_001042492.3(NF1):c.7234del (p.Ile2412fs) rs876658245
NM_001042492.3(NF1):c.7249_7258dup (p.Val2420fs)
NM_001042492.3(NF1):c.7249del (p.Leu2416_Leu2417insTer) rs1597858445
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7287del (p.Phe2429fs) rs1135402902
NM_001042492.3(NF1):c.730+1G>A rs1060500274
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.7307dup (p.Ala2437fs)
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7322del (p.Ala2441fs) rs1131691113
NM_001042492.3(NF1):c.7325T>A (p.Leu2442Ter)
NM_001042492.3(NF1):c.732dup (p.Cys245fs)
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
NM_001042492.3(NF1):c.7389del (p.Thr2464fs)
NM_001042492.3(NF1):c.7391_7407del (p.Thr2464fs)
NM_001042492.3(NF1):c.7392del (p.Asp2465fs) rs786202180
NM_001042492.3(NF1):c.739G>T (p.Glu247Ter) rs2143784954
NM_001042492.3(NF1):c.7422dup (p.Thr2475fs) rs1131691107
NM_001042492.3(NF1):c.7442del (p.Gly2481fs) rs2151574635
NM_001042492.3(NF1):c.7450_7453del (p.Ser2484fs)
NM_001042492.3(NF1):c.7455_7456dup (p.Arg2486fs) rs2151574678
NM_001042492.3(NF1):c.745del (p.Leu249fs)
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter) rs1555536340
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter) rs863224493
NM_001042492.3(NF1):c.7496del (p.Gly2499fs) rs1555536352
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter) rs1555536359
NM_001042492.3(NF1):c.7527_7528insTA (p.Thr2510Ter)
NM_001042492.3(NF1):c.7528dup (p.Thr2510fs)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.755del (p.Leu252fs)
NM_001042492.3(NF1):c.7561delinsCC (p.Ser2521fs)
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter) rs1555536372
NM_001042492.3(NF1):c.7596dup (p.Asn2533fs)
NM_001042492.3(NF1):c.7606_7615+1del rs1131691120
NM_001042492.3(NF1):c.7614del (p.Gly2539fs) rs2070173038
NM_001042492.3(NF1):c.7615G>T (p.Gly2539Ter)
NM_001042492.3(NF1):c.7644dup (p.Ser2549fs) rs2151581069
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
NM_001042492.3(NF1):c.7647del (p.Asp2550fs) rs1597865773
NM_001042492.3(NF1):c.7662_7664delinsAG (p.Lys2555fs) rs1567626632
NM_001042492.3(NF1):c.7663A>T (p.Lys2555Ter)
NM_001042492.3(NF1):c.768del (p.Phe256fs) rs1597659830
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer) rs1060500295
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7749del (p.Ile2584fs) rs2151582195
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter) rs1131691090
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter) rs1555536687
NM_001042492.3(NF1):c.7765C>T (p.Gln2589Ter) rs1555536689
NM_001042492.3(NF1):c.7783A>T (p.Lys2595Ter)
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs) rs1597866414
NM_001042492.3(NF1):c.7805del (p.Asn2602fs)
NM_001042492.3(NF1):c.7811del (p.Leu2604fs) rs1555536701
NM_001042492.3(NF1):c.7838del (p.Pro2613fs) rs1131691129
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs) rs1131691129
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter) rs1555536713
NM_001042492.3(NF1):c.7869+1G>A rs1329683225
NM_001042492.3(NF1):c.7880dup (p.Tyr2629fs)
NM_001042492.3(NF1):c.7898_7899dup (p.Phe2634fs)
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter) rs567988442
NM_001042492.3(NF1):c.7908del (p.Gln2636fs) rs1597866872
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7912del (p.Ile2638fs)
NM_001042492.3(NF1):c.7918dup (p.Tyr2640fs)
NM_001042492.3(NF1):c.7928_7929insGT (p.Leu2643_Ala2644insTer)
NM_001042492.3(NF1):c.793dup (p.Ala265fs)
NM_001042492.3(NF1):c.7962del (p.Pro2655fs)
NM_001042492.3(NF1):c.7971-2A>G rs779079091
NM_001042492.3(NF1):c.7979del (p.Leu2660fs) rs2151584799
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter) rs1567627709
NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter) rs1555536882
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter) rs1131691074
NM_001042492.3(NF1):c.8010del (p.Leu2671fs)
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.8044del (p.His2682fs)
NM_001042492.3(NF1):c.8056C>T (p.Gln2686Ter) rs2151585015
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8067del (p.Tyr2690fs)
NM_001042492.3(NF1):c.8074G>T (p.Glu2692Ter) rs2070327932
NM_001042492.3(NF1):c.8087del (p.Pro2696fs)
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter) rs786203443
NM_001042492.3(NF1):c.8099_8100insTA (p.Ser2701fs)
NM_001042492.3(NF1):c.8110C>T (p.Gln2704Ter)
NM_001042492.3(NF1):c.8113+93A>T
NM_001042492.3(NF1):c.8129del (p.Gly2710fs)
NM_001042492.3(NF1):c.818del (p.Leu273fs) rs2143786053
NM_001042492.3(NF1):c.823_827del (p.Ile275fs) rs2143786096
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter) rs771764281
NM_001042492.3(NF1):c.875del (p.Asn292fs) rs1597660090
NM_001042492.3(NF1):c.888+1G>A rs1135402799
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.935del (p.Gly312fs)
NM_001042492.3(NF1):c.937_938dup (p.Ser313fs)
NM_001042492.3(NF1):c.93dup (p.Thr32fs) rs1597625887
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.950_951insTT (p.Thr317_Glu318insTer)
NM_001042492.3(NF1):c.952G>T (p.Glu318Ter)
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_001042492.3(NF1):c.953_956del (p.Glu318fs)
NM_001042492.3(NF1):c.955del (p.Ser319fs) rs876660931
NM_001042492.3(NF1):c.955dup (p.Ser319fs) rs876660931
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.987_991del (p.Ala330fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter) rs2066508538
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer) rs2143873634
NM_001042492.3(NF1):c.99del (p.Val34fs) rs1060500320
NM_001042646.3(TRAK1):c.1412_1413del (p.Glu471fs) rs1553608726
NM_001042681.2(RERE):c.1920del (p.Ser641fs) rs1553155778
NM_001042681.2(RERE):c.2752dup (p.Leu918fs)
NM_001042681.2(RERE):c.3586C>T (p.Arg1196Ter) rs1641481122
NM_001042681.2(RERE):c.705_708del (p.Tyr236fs)
NM_001042750.2(STAG2):c.2924+2_2924+11del rs2058961860
NM_001046.3(SLC12A2):c.3312del (p.Phe1104fs)
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.1041T>A (p.Cys347Ter) rs1114167685
NM_001048174.2(MUTYH):c.1043_1055delinsGCCCT (p.Val348fs)
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter) rs745910470
NM_001048174.2(MUTYH):c.1057_1064del (p.Gly353fs)
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1072C>T (p.Gln358Ter)
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) rs863224501
NM_001048174.2(MUTYH):c.1142G>A (p.Trp381Ter)
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1177dup (p.Leu393fs)
NM_001048174.2(MUTYH):c.1178dup (p.Gln394fs)
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) rs1060501321
NM_001048174.2(MUTYH):c.1183del (p.Glu395fs) rs1570373385
NM_001048174.2(MUTYH):c.1185del (p.Glu395fs) rs2149119265
NM_001048174.2(MUTYH):c.1189C>T (p.Gln397Ter)
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) rs1060501325
NM_001048174.2(MUTYH):c.119_122dup (p.Arg42fs)
NM_001048174.2(MUTYH):c.1203del (p.Leu403fs)
NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) rs1553125622
NM_001048174.2(MUTYH):c.1239+1G>A
NM_001048174.2(MUTYH):c.126del (p.Arg42fs)
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) rs1553125243
NM_001048174.2(MUTYH):c.1284T>G (p.Tyr428Ter)
NM_001048174.2(MUTYH):c.1287del (p.Leu430fs) rs1570366181
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) rs1553125075
NM_001048174.2(MUTYH):c.1329del (p.Gly444fs)
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1359del (p.His454fs)
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.168_171delinsG (p.Tyr56_His57delinsTer)
NM_001048174.2(MUTYH):c.181_182del (p.Asp61fs)
NM_001048174.2(MUTYH):c.190G>T (p.Glu64Ter)
NM_001048174.2(MUTYH):c.192dup (p.Val65fs) rs1570443585
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter) rs1553130185
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.255G>A (p.Trp85Ter)
NM_001048174.2(MUTYH):c.256_260delinsC (p.Arg86fs)
NM_001048174.2(MUTYH):c.274del (p.Glu92fs) rs786203213
NM_001048174.2(MUTYH):c.292_293del (p.Arg98fs)
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter) rs774798236
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.310del (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter) rs876659625
NM_001048174.2(MUTYH):c.360C>G (p.Tyr120Ter) rs1570433022
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter) rs1645261795
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter) rs2149161607
NM_001048174.2(MUTYH):c.387_389delinsAA (p.Thr130fs) rs1570428456
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.430C>T (p.Gln144Ter)
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter) rs1570423722
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.47del (p.Ala16fs)
NM_001048174.2(MUTYH):c.507del (p.Gly171fs) rs2149152823
NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter) rs2149151527
NM_001048174.2(MUTYH):c.554del (p.Pro185fs)
NM_001048174.2(MUTYH):c.60del (p.Arg22fs) rs1060501336
NM_001048174.2(MUTYH):c.619del (p.Val207fs)
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs) rs1064793197
NM_001048174.2(MUTYH):c.663del (p.Ile221fs)
NM_001048174.2(MUTYH):c.665del (p.Gly222fs)
NM_001048174.2(MUTYH):c.66del (p.Arg22fs)
NM_001048174.2(MUTYH):c.678dup (p.Ser227fs)
NM_001048174.2(MUTYH):c.725delinsAG (p.Val242fs) rs1553127825
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.77del (p.Ala26fs)
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter) rs1553127659
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.879del (p.Ser294fs) rs776362892
NM_001048174.2(MUTYH):c.887dup (p.Ser298fs)
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs) rs1645561773
NM_001048174.2(MUTYH):c.957_958del (p.Glu319fs)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001077350.3(NPRL3):c.1149del (p.Ala384fs) rs2141907691
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter) rs1898844513
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)
NM_001077653.2(TBX20):c.390dup (p.Pro131fs)
NM_001079668.3(NKX2-1):c.170_182del (p.Val57fs) rs1881225977
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001079668.3(NKX2-1):c.818_825del (p.Gly273fs) rs1555349184
NM_001079668.3(NKX2-1):c.921_930del (p.Gly308fs) rs1555349160
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1167del (p.Lys389fs) rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.180dup (p.Phe61fs) rs2132704748
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.786C>A (p.Tyr262Ter)
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer) rs1553597538
NM_001079872.2(CUL4B):c.1165G>T (p.Glu389Ter) rs1556213001
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter) rs1556220623
NM_001080.3(ALDH5A1):c.781C>T (p.Arg261Ter)
NM_001080442.3(SLC38A8):c.1002del (p.Ser336fs) rs587777255
NM_001080453.3(INTS1):c.2197del (p.Leu733fs)
NM_001080453.3(INTS1):c.789dup (p.Arg264fs)
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.178del (p.Glu60fs) rs1382444181
NM_001080517.3(SETD5):c.1538del (p.Arg513fs)
NM_001080517.3(SETD5):c.1783-2A>T rs797044953
NM_001080517.3(SETD5):c.1801del (p.Lys600_Leu601insTer) rs2042181751
NM_001080517.3(SETD5):c.1915C>T (p.Gln639Ter) rs2042191502
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) rs864321657
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001080517.3(SETD5):c.2474dup (p.Asp826fs)
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3257del (p.Gly1086fs)
NM_001080517.3(SETD5):c.3301C>T (p.Gln1101Ter) rs1304648449
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.4(CUBN):c.5573del (p.Gly1858fs) rs1842591499
NM_001082971.2(DDC):c.128del (p.Pro43fs)
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter) rs138828136
NM_001083116.3(PRF1):c.1432del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083961.2(WDR62):c.2575C>T (p.Gln859Ter) rs1006898944
NM_001083961.2(WDR62):c.3124G>T (p.Gly1042Ter)
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs)
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs) rs1555764170
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter) rs1555763998
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs)
NM_001083962.2(TCF4):c.1551dup (p.Glu518fs)
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) rs1057521070
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.469del (p.Arg157fs) rs1569138023
NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter)
NM_001083962.2(TCF4):c.624del (p.Ser209fs) rs2062118353
NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs)
NM_001083962.2(TCF4):c.673del (p.Asp225fs) rs1555797248
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter) rs1555797231
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter) rs1555778204
NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr)
NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter)
NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter)
NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter)
NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter)
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs) rs1052598974
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.3057dup (p.Asn1020Ter)
NM_001089.3(ABCA3):c.3348_3360del (p.Ile1117fs)
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter)
NM_001089.3(ABCA3):c.3902dup (p.Val1303fs)
NM_001089.3(ABCA3):c.3997_3998del (p.Arg1333fs) rs2093657764
NM_001089.3(ABCA3):c.4141_4142del (p.Leu1381fs) rs2093654880
NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met)
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter) rs2093650935
NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) rs775903641
NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs) rs1555890974
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs)
NM_001099857.5(IKBKG):c.187+1G>A
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.259C>G (p.His87Asp) rs1554329552
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.987_990dup (p.Ala331fs) rs1784799235
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp) rs1557179659
NM_001110556.2(FLNA):c.524G>A (p.Trp175Ter)
NM_001110556.2(FLNA):c.5395delinsTTG (p.Ile1799fs)
NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter)
NM_001110556.2(FLNA):c.7205_7208dup (p.Asp2403_Val2404insTer)
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
NM_001110556.2(FLNA):c.885_892del (p.Asn296fs) rs886038987
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer)
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs)
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs)
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1188_1243del (p.Pro396_Pro397insTer)
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs)
NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs)
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs)
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.648dup (p.Glu217fs) rs1557136758
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.908dup (p.Ser304fs)
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) rs61754425
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001111.5(ADAR):c.2885+2T>C rs1696919284
NM_001111.5(ADAR):c.3255_3256del (p.Asp1087fs)
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer) rs797044889
NM_001111125.3(IQSEC2):c.2078del (p.Gly693fs)
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr) rs797044932
NM_001111125.3(IQSEC2):c.321_322del (p.Phe107fs)
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.880C>T (p.Gln294Ter)
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter)
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs)
NM_001114753.3(ENG):c.1047_1048dup (p.Cys350fs)
NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs)
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
NM_001114753.3(ENG):c.1088dup (p.Cys363fs)
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer)
NM_001114753.3(ENG):c.1104del (p.Met368fs)
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs)
NM_001114753.3(ENG):c.1139dup (p.Leu380fs)
NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter)
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
NM_001114753.3(ENG):c.1181dup (p.Cys394fs)
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1205_1208dup (p.Phe403fs)
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs) rs1830432717
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_001114753.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1297dup (p.Ser433fs)
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
NM_001114753.3(ENG):c.1311+1G>C
NM_001114753.3(ENG):c.1311+2T>A
NM_001114753.3(ENG):c.1311+2T>G
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) rs965119099
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1440_1449del (p.Val483fs)
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1465_1466del (p.Gln489fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1488_1498delinsATTGGGCCTT (p.Asp496fs)
NM_001114753.3(ENG):c.1494del (p.Pro499fs)
NM_001114753.3(ENG):c.1509_1510insCCAC (p.Val504fs)
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.1613_1614del (p.Thr538fs)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) rs1830377451
NM_001114753.3(ENG):c.1639_1645dup (p.Cys549fs)
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.1682_1686+15del
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) rs2131873923
NM_001114753.3(ENG):c.1689del (p.Val564fs)
NM_001114753.3(ENG):c.1698del (p.Thr567fs) rs1830345215
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.205del (p.Leu69fs)
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.258del (p.Lys86fs)
NM_001114753.3(ENG):c.263del (p.Asn88fs)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_001114753.3(ENG):c.313_314del (p.Val105fs)
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2dup
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.361-2A>G
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.391_392dup (p.Gly132fs)
NM_001114753.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_001114753.3(ENG):c.3G>T (p.Met1Ile)
NM_001114753.3(ENG):c.439_440insAAGC (p.Leu147fs)
NM_001114753.3(ENG):c.445dup (p.Trp149fs)
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.451_470delinsTCTGCTG (p.Ala151fs)
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.457_458dup (p.Pro155fs)
NM_001114753.3(ENG):c.457dup (p.Arg153fs)
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro)
NM_001114753.3(ENG):c.524-1G>T
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.581_582del (p.Leu194fs)
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs)
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.619del (p.Cys207fs)
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
NM_001114753.3(ENG):c.63del (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.647del (p.Lys216fs)
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.674dup (p.His227fs)
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.690-1G>A rs1554810272
NM_001114753.3(ENG):c.700dup (p.Val234fs)
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter)
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.740del (p.Leu247fs)
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.766_767delinsA (p.Pro256fs)
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.822del (p.Gly275fs)
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.841del (p.Ile281fs)
NM_001114753.3(ENG):c.878del (p.Pro293fs)
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.910del (p.Arg304fs)
NM_001114753.3(ENG):c.916del (p.Leu306fs)
NM_001114753.3(ENG):c.917_918del (p.Leu306fs)
NM_001114753.3(ENG):c.919_920del (p.Asn307fs)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1G>C
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) rs1555918056
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001123385.2(BCOR):c.4087_4088del (p.Cys1363fs)
NM_001123385.2(BCOR):c.472del (p.Ser158fs)
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001127178.3(PIGG):c.1087C>T (p.Gln363Ter)
NM_001127221.2(CACNA1A):c.5588_5589del (p.Leu1863fs) rs1431092862
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter) rs1568523843
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter) rs1555758842
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs) rs1568518139
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs) rs1555756091
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter) rs1318353774
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs) rs1131691712
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3979_3983delinsCCACTTCACTTA (p.Phe1327fs)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4065del (p.Ile1356fs)
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.506G>A (p.Trp169Ter)
NM_001127222.2(CACNA1A):c.5736_5737dup (p.Ala1913fs)
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs)
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs) rs1555730902
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127392.3(MYRF):c.1207C>T (p.Gln403Ter)
NM_001127392.3(MYRF):c.2041del (p.Ala681fs) rs2066476444
NM_001127392.3(MYRF):c.2358_2359del (p.Tyr787fs) rs2066505057
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001127511.3(APC):c.-195A>C rs879253782
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala) rs1755063375
NM_001127898.4(CLCN5):c.1374del (p.Phe459fs) rs1557194018
NM_001127898.4(CLCN5):c.328del (p.Ser110fs) rs1933254254
NM_001128.6(AP1G1):c.1135C>T (p.Arg379Ter)
NM_001128.6(AP1G1):c.2080C>T (p.Gln694Ter)
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter) rs568176223
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) rs767402084
NM_001128840.3(CACNA1D):c.3964C>T (p.Arg1322Ter)
NM_001128849.1(SMARCA4):c.3874delG
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130438.3(SPTAN1):c.6460C>T (p.Gln2154Ter)
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134407.3(GRIN2A):c.1509del (p.Gln503fs)
NM_001134407.3(GRIN2A):c.1532C>A (p.Ser511Ter)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.2143del (p.Asp715fs) rs2042301516
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538
NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg) rs587777744
NM_001134673.4(NFIA):c.1076-1G>A rs1553182933
NM_001134673.4(NFIA):c.1145_1148del (p.Tyr382fs) rs1553182964
NM_001134673.4(NFIA):c.307dup (p.Cys103fs) rs1553149206
NM_001134673.4(NFIA):c.343C>T (p.Arg115Ter)
NM_001134673.4(NFIA):c.374_375del (p.Lys125fs) rs1646260006
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter)
NM_001136035.4(TRMT1):c.1110dup (p.Lys371fs)
NM_001136035.4(TRMT1):c.619C>T (p.Gln207Ter)
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001145308.5(LRTOMT):c.614_617dup (p.Ser207fs) rs797044907
NM_001145358.2(SIN3A):c.1363del (p.Ala455fs)
NM_001145358.2(SIN3A):c.1576del (p.Glu526fs) rs2073399686
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001145358.2(SIN3A):c.2478_2479del (p.Gln827fs) rs1555443682
NM_001145358.2(SIN3A):c.2925_2928dup (p.Ser977fs) rs2073161466
NM_001145358.2(SIN3A):c.2937T>A (p.Tyr979Ter)
NM_001145358.2(SIN3A):c.3314dup (p.Tyr1105Ter)
NM_001145358.2(SIN3A):c.346C>T (p.Gln116Ter) rs2073858956
NM_001145358.2(SIN3A):c.3481_3482delinsT (p.Ser1161fs)
NM_001145860.2(POP1):c.1195dup (p.Ile399fs)
NM_001148.6(ANK2):c.10924C>T (p.Arg3642Ter) rs757033443
NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter)
NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter)
NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs)
NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter)
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter) rs2092061253
NM_001148.6(ANK2):c.3281dup (p.Val1095fs)
NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs)
NM_001148.6(ANK2):c.7531C>T (p.Arg2511Ter) rs2154024936
NM_001148.6(ANK2):c.9115del (p.Asp3039fs)
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) rs886041081
NM_001159699.2(FHL1):c.288del (p.Phe96fs) rs2148373432
NM_001159699.2(FHL1):c.298_301dup (p.Asn101fs)
NM_001159699.2(FHL1):c.344_345del (p.Pro115fs)
NM_001159699.2(FHL1):c.516dup (p.Lys173fs)
NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs) rs1837435094
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001162501.2(TNRC6B):c.1813C>T (p.Gln605Ter)
NM_001162501.2(TNRC6B):c.2137C>T (p.Arg713Ter) rs1191287768
NM_001162501.2(TNRC6B):c.2247G>A (p.Trp749Ter) rs200598254
NM_001162501.2(TNRC6B):c.2991G>A (p.Trp997Ter) rs763492540
NM_001162501.2(TNRC6B):c.3811C>T (p.Gln1271Ter) rs2071009325
NM_001162501.2(TNRC6B):c.4120+1G>T
NM_001163435.3(TBCK):c.1731C>G (p.Tyr577Ter)
NM_001163435.3(TBCK):c.2091dup (p.Ile698fs) rs1750971659
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.8470dup (p.Ala2824fs)
NM_001165963.4(SCN1A):c.1027G>C (p.Gly343Arg)
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1118T>A (p.Leu373Ter) rs1553547448
NM_001165963.4(SCN1A):c.1134_1147dup (p.Phe383Ter) rs1698001843
NM_001165963.4(SCN1A):c.1200_1202del (p.Met400del)
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2580_2584del (p.Phe861fs)
NM_001165963.4(SCN1A):c.2872dup (p.Asp958fs)
NM_001165963.4(SCN1A):c.3217dup (p.Leu1073fs)
NM_001165963.4(SCN1A):c.3292del (p.Asp1098fs) rs1553540213
NM_001165963.4(SCN1A):c.3358G>T (p.Gly1120Ter)
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3706-1G>A
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3813G>A (p.Trp1271Ter)
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4013A>C (p.Asn1338Thr) rs797044952
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4301G>A (p.Trp1434Ter) rs1559122263
NM_001165963.4(SCN1A):c.4338+1G>C rs1553523138
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His) rs1559119345
NM_001165963.4(SCN1A):c.4450_4453del (p.Asp1484fs) rs1559118996
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.474-2A>G
NM_001165963.4(SCN1A):c.4852+1G>A rs1573962555
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter) rs1553520105
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.655dup (p.Arg219fs)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.812del (p.Gly271fs) rs1553549717
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter) rs2105888495
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) rs765307463
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001170535.3(ATAD3A):c.511C>T (p.Arg171Ter)
NM_001170629.1(CHD8):c.5053delG
NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter) rs1888700404
NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs) rs797044853
NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs) rs1157888951
NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter) rs1555314895
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter) rs991738444
NM_001170629.2(CHD8):c.463_466del (p.Ser155fs) rs1555318633
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter) rs1555313048
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1174-1G>A rs1688108762
NM_001172509.2(SATB2):c.1196del (p.Arg399fs) rs1553547906
NM_001172509.2(SATB2):c.1311_1314dup (p.Arg439fs) rs1559164234
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter) rs1687959307
NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)
NM_001172509.2(SATB2):c.1728del (p.Glu577fs) rs1687511235
NM_001172509.2(SATB2):c.1795G>T (p.Glu599Ter)
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.1825_1826dup (p.Asp609fs)
NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu) rs746319722
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs) rs1553551705
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter) rs1057518496
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) rs121909490
NM_001174150.2(ARL13B):c.274dup (p.Val92fs)
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001184.4(ATR):c.5851C>T (p.Arg1951Ter) rs758234545
NM_001184.4(ATR):c.6430C>T (p.Gln2144Ter)
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs) rs1555985372
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr) rs1555985368
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2675+1G>A
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) rs1569315950
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.582del (p.Ser195fs)
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) rs1569315508
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001190274.2(FBXO11):c.592C>T (p.Arg198Ter)
NM_001190737.2(NFIB):c.373_376del (p.Asp125fs) rs2132702633
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195553.2(DCX):c.-22-345_326del
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter) rs587783519
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001195553.2(DCX):c.871C>T (p.Gln291Ter)
NM_001197104.2(KMT2A):c.10754+1G>A
NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer) rs1555052879
NM_001197104.2(KMT2A):c.11530dup (p.Arg3844fs) rs1555053483
NM_001197104.2(KMT2A):c.134del (p.Pro45fs) rs1555138529
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter) rs781978013
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs) rs1949187852
NM_001197104.2(KMT2A):c.173del (p.Pro58fs) rs1555138552
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs) rs797044937
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs) rs1555036394
NM_001197104.2(KMT2A):c.2262del (p.Ser754_Met755insTer) rs1555036436
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2903del (p.Asn968fs)
NM_001197104.2(KMT2A):c.308del (p.Pro103fs) rs1949193924
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs) rs1950069134
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3570-2A>G rs1950106219
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs) rs1555039242
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter) rs1950137753
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter)
NM_001197104.2(KMT2A):c.3896_3908del (p.Ser1299fs)
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs) rs1555039606
NM_001197104.2(KMT2A):c.433-2A>C
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs) rs1555040480
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs) rs1950408951
NM_001197104.2(KMT2A):c.5665-2A>G
NM_001197104.2(KMT2A):c.6348del (p.Ala2117fs)
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs)
NM_001197104.2(KMT2A):c.6850delinsAA (p.Asp2284fs)
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter) rs1555046404
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs) rs1555046428
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) rs1555046615
NM_001197104.2(KMT2A):c.766del (p.Ile256fs) rs1565278132
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs) rs1949950865
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter)
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs) rs1555047506
NM_001198800.3(ASCC1):c.251dup (p.Glu85fs) rs1856787943
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.352del (p.Leu118fs)
NM_001199107.2(TBC1D24):c.404del (p.Pro135fs)
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter) rs761061399
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) rs387906597
NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)
NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)
NM_001211.6(BUB1B):c.2328dup (p.Asp777fs) rs767768253
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1310del (p.Asn437fs) rs2088008490
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.3155+5G>A
NM_001242896.3(DEPDC5):c.3684del (p.Ile1228fs)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4287C>G (p.Tyr1429Ter) rs1569232705
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.903del (p.Ala302fs)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) rs767946490
NM_001244008.2(KIF1A):c.350G>T (p.Gly117Val) rs1200817308
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001256012.3(MYH10):c.2815G>T (p.Glu939Ter) rs797044880
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
NM_001256627.2(BRSK2):c.1301_1307dup (p.Arg437fs)
NM_001256627.2(BRSK2):c.1535C>A (p.Ser512Ter)
NM_001256627.2(BRSK2):c.696_697del (p.Phe233fs)
NM_001256627.2(BRSK2):c.978-1G>C
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer) rs2147297973
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter) rs2085819579
NM_001257180.2(SLC20A2):c.411G>A (p.Trp137Ter)
NM_001257180.2(SLC20A2):c.51_54dup (p.Ile19fs) rs1554561128
NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp) rs1770718566
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1165G>T (p.Glu389Ter)
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs) rs2088191243
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105486del (p.Trp35162fs) rs1553485330
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs) rs2082227467
NM_001267550.2(TTN):c.13838_13839del (p.Val4613fs) rs2154317516
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.49648+1G>T
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs) rs747513278
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs) rs2055292474
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs) rs1553650442
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter) rs2154186640
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59436del (p.Val19813fs)
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62733G>A (p.Trp20911Ter)
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.66632dup (p.Asn22211fs)
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81988C>T (p.Gln27330Ter)
NM_001267550.2(TTN):c.82164C>G (p.Tyr27388Ter)
NM_001267550.2(TTN):c.82598del (p.Gly27533fs)
NM_001267550.2(TTN):c.83340_83341delinsTTT (p.Lys27780fs)
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) rs794729299
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.97417del (p.Arg32473fs)
NM_001267550.2(TTN):c.98319T>G (p.Tyr32773Ter)
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001270508.2(TNFAIP3):c.682A>T (p.Lys228Ter)
NM_001271.4(CHD2):c.1417C>T (p.Gln473Ter)
NM_001271.4(CHD2):c.1685del (p.Val562fs)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2221del (p.Ala741fs)
NM_001271.4(CHD2):c.2410C>T (p.Arg804Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.4182_4186del (p.Lys1395fs)
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4601G>A (p.Trp1534Ter) rs1567163701
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4841dup (p.Gln1615fs) rs2054437773
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.522dup (p.Val175fs)
NM_001271.4(CHD2):c.592C>T (p.Gln198Ter)
NM_001271.4(CHD2):c.613C>T (p.Gln205Ter) rs2053325154
NM_001271838.2(RSRC1):c.194+1G>A rs746219497
NM_001271838.2(RSRC1):c.495-2A>G rs1727334508
NM_001271893.4(TWIST2):c.223G>A (p.Glu75Lys) rs1553565140
NM_001272071.2(AP1S2):c.68C>G (p.Ser23Ter)
NM_001273.5(CHD4):c.3203G>A (p.Arg1068His) rs886039915
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys) rs2136209158
NM_001276270.2(MBD4):c.249dup (p.Lys84Ter)
NM_001276270.2(MBD4):c.587C>G (p.Ser196Ter)
NM_001276270.2(MBD4):c.962C>G (p.Ser321Ter)
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) rs886042735
NM_001277115.2(DNAH11):c.10680del (p.Gly3563fs)
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter)
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs) rs759332741
NM_001277115.2(DNAH11):c.2931dup (p.Cys978fs)
NM_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter)
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)
NM_001277115.2(DNAH11):c.3898_3906delinsG (p.Gln1300fs)
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs) rs761764078
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)
NM_001277115.2(DNAH11):c.5163_5164insCAGCC (p.Ile1722fs)
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter) rs372143147
NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter)
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs) rs878854445
NM_001277115.2(DNAH11):c.9228del (p.Glu3076fs)
NM_001277115.2(DNAH11):c.9243del (p.Phe3081fs)
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter)
NM_001277115.2(DNAH11):c.9560_9561insAGTT (p.Ala3189fs)
NM_001277115.2(DNAH11):c.966dup (p.Leu323fs)
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278716.2(FBXL4):c.397C>T (p.Gln133Ter)
NM_001278716.2(FBXL4):c.827del (p.Asn276fs) rs1240941970
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.1620_1630dup (p.Thr544fs) rs1980973531
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2287dup (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2322T>G (p.Tyr774Ter)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2498_2499del (p.Lys833fs) rs1555809836
NM_001282531.3(ADNP):c.2499del (p.Val834fs) rs1555809836
NM_001282531.3(ADNP):c.331del (p.Tyr111fs) rs1981170986
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001287.6(CLCN7):c.889G>A (p.Val297Met) rs769080435
NM_001287491.2(TET3):c.2234_2235del (p.Pro745fs) rs1687748823
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001288705.3(CSF1R):c.554del (p.Lys185fs)
NM_001291415.2(KDM6A):c.1015C>T (p.Gln339Ter) rs1556308480
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.2231_2232del (p.Gln744fs) rs1556328723
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) rs1556038028
NM_001291867.2(NHS):c.3245del (p.Pro1082fs) rs1556039406
NM_001292034.3(TAB2):c.253_254del (p.Gln85fs) rs1781468348
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001303052.2(MYT1L):c.2670_2671del (p.Ser891fs)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001317778.2(SFTPC):c.329T>C (p.Leu110Pro)
NM_001317778.2(SFTPC):c.413_430delinsAGGTGATC (p.Thr138fs)
NM_001317778.2(SFTPC):c.480dup (p.Arg161fs)
NM_001318852.2(MAPK8IP3):c.2919G>A (p.Trp973Ter) rs755287045
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro) rs2151185393
NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter)
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter) rs1801960712
NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)
NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs)
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs) rs2151188957
NM_001320.7(CSNK2B):c.72+1G>A rs1801761541
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001321075.3(DLG4):c.1240del (p.Ser414fs)
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) rs778104648
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) rs2142888007
NM_001321075.3(DLG4):c.335+1G>A
NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)
NM_001323289.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer) rs1555951954
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) rs1569219346
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs) rs1555951981
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1994_1995del (p.Lys665fs)
NM_001323289.2(CDKL5):c.205C>T (p.Gln69Ter)
NM_001323289.2(CDKL5):c.2152+1G>A rs1555952732
NM_001323289.2(CDKL5):c.2216del (p.Leu739fs)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.666del (p.Ile223fs) rs1569215645
NM_001329943.3(KIAA0586):c.4133_4138delinsAA (p.Pro1378fs)
NM_001330078.2(NRXN1):c.1286_1296del (p.Pro429fs)
NM_001330078.2(NRXN1):c.2792del (p.Phe931fs) rs1388095672
NM_001330078.2(NRXN1):c.3778C>T (p.Arg1260Ter)
NM_001330260.2(SCN8A):c.1402del (p.Glu468fs)
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_001330260.2(SCN8A):c.2169G>A (p.Trp723Ter)
NM_001330260.2(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2936C>T (p.Ser979Phe) rs1555226081
NM_001330260.2(SCN8A):c.3448C>T (p.Gln1150Ter) rs1555226280
NM_001330260.2(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4412del (p.Lys1471fs) rs1938179478
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys) rs2138942373
NM_001330311.2(DVL1):c.1579del (p.His527fs) rs1553173425
NM_001330574.2(ZNF711):c.1199_1203del (p.Gln400fs)
NM_001330574.2(ZNF711):c.531_532dup (p.Gly178fs)
NM_001346249.2(RALGAPA1):c.5455C>T (p.Gln1819Ter)
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001347721.2(DYRK1A):c.1003dup (p.Met335fs) rs1555985620
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)
NM_001347721.2(DYRK1A):c.1239del (p.Lys413fs) rs1555990751
NM_001347721.2(DYRK1A):c.1275dup (p.Gly426fs) rs1555990816
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
NM_001347721.2(DYRK1A):c.262del (p.Ser88fs)
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.489+2T>C rs2052613493
NM_001347721.2(DYRK1A):c.531_532dup (p.Ile178fs) rs1555982591
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.775C>T (p.Gln259Ter)
NM_001347721.2(DYRK1A):c.803del (p.Ala268fs) rs1555984304
NM_001347721.2(DYRK1A):c.972dup (p.Leu325fs)
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3984_3985del (p.Gly1329fs) rs1553610329
NM_001348323.3(TRIP12):c.4415+5G>A rs2041634150
NM_001348323.3(TRIP12):c.486del (p.Gln162fs) rs1553704696
NM_001348323.3(TRIP12):c.5191_5194del (p.Thr1731fs) rs1553591922
NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)
NM_001348716.2(KDM6B):c.1984_1990dup (p.Pro664fs)
NM_001348716.2(KDM6B):c.4388G>A (p.Trp1463Ter)
NM_001348716.2(KDM6B):c.654_655del (p.Glu220fs)
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001348800.3(ZBTB20):c.1256dup (p.Gly420fs) rs1553794464
NM_001348800.3(ZBTB20):c.1412dup (p.Ser472fs)
NM_001348800.3(ZBTB20):c.1869G>C (p.Lys623Asn) rs1553789275
NM_001348800.3(ZBTB20):c.329dup (p.His111fs) rs2080691379
NM_001349338.3(FOXP1):c.1146+1G>A rs1559650552
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1255C>T (p.Gln419Ter)
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu) rs1057524152
NM_001349338.3(FOXP1):c.1507del (p.Arg503fs) rs1553667322
NM_001349338.3(FOXP1):c.1531-9_1534dup rs2036514016
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1547_1552del (p.Asn516_Leu517del)
NM_001349338.3(FOXP1):c.1549C>T (p.Leu517Phe)
NM_001349338.3(FOXP1):c.1569del (p.Phe523fs) rs2036507371
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.1652+5G>C rs794727216
NM_001349338.3(FOXP1):c.529C>T (p.Gln177Ter) rs1559807265
NM_001349338.3(FOXP1):c.598C>T (p.Gln200Ter) rs1553709919
NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs) rs1555902810
NM_001352027.3(PHF21A):c.1032_1035del (p.Thr345fs) rs2092369866
NM_001352027.3(PHF21A):c.1171C>T (p.Arg391Ter) rs1554988946
NM_001352027.3(PHF21A):c.1230dup (p.Lys411Ter)
NM_001352027.3(PHF21A):c.602_603del (p.Thr201fs)
NM_001352514.2(HLCS):c.2140A>T (p.Lys714Ter)
NM_001353108.3(CEP63):c.448del (p.Arg150fs) rs1266747910
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
NM_001353345.2(SETD1B):c.3367del (p.Asp1123fs)
NM_001353345.2(SETD1B):c.4005_4010delinsAT (p.Ser1335fs)
NM_001353345.2(SETD1B):c.773del (p.Tyr258fs)
NM_001353921.2(ARHGEF9):c.415C>T (p.Gln139Ter)
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
NM_001353921.2(ARHGEF9):c.875del (p.Asn292fs) rs2050117690
NM_001354629.2(MLH1):c.208-3445_208-3433del rs1057517543
NM_001356.5(DDX3X):c.1047dup (p.Asp350Ter)
NM_001356.5(DDX3X):c.1071_1170+24del rs2063908023
NM_001356.5(DDX3X):c.1187del (p.Phe396fs)
NM_001356.5(DDX3X):c.1190_1196del (p.Leu397fs) rs2063910538
NM_001356.5(DDX3X):c.1228_1247del (p.Ser410fs)
NM_001356.5(DDX3X):c.1276_1279del (p.Asp426fs) rs1555953882
NM_001356.5(DDX3X):c.1298_1299dup (p.Leu434fs) rs2063911610
NM_001356.5(DDX3X):c.1423C>G (p.Arg475Gly) rs1064794574
NM_001356.5(DDX3X):c.1429C>T (p.Gln477Ter) rs1555954105
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001356.5(DDX3X):c.1498-2A>G rs1131691608
NM_001356.5(DDX3X):c.151+1G>A rs2147343930
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1601dup (p.Val535fs) rs1555954287
NM_001356.5(DDX3X):c.1696_1697del (p.Glu566fs)
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.1769+1G>A rs1555954414
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter) rs2063939905
NM_001356.5(DDX3X):c.233C>G (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.275dup (p.Arg93fs)
NM_001356.5(DDX3X):c.284+1G>C rs1555952710
NM_001356.5(DDX3X):c.380G>A (p.Trp127Ter) rs2063866727
NM_001356.5(DDX3X):c.3G>C (p.Met1Ile) rs1555950665
NM_001356.5(DDX3X):c.404_407del (p.Asp135fs)
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.616G>A (p.Val206Met) rs1555953166
NM_001356.5(DDX3X):c.641T>C (p.Ile214Thr)
NM_001356.5(DDX3X):c.721C>T (p.Gln241Ter)
NM_001356.5(DDX3X):c.865-1G>C rs1255183431
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001357.5(DHX9):c.1704C>A (p.Tyr568Ter)
NM_001357.5(DHX9):c.2290C>T (p.Arg764Ter)
NM_001357.5(DHX9):c.3154C>T (p.Arg1052Ter)
NM_001357.5(DHX9):c.3384dup (p.Glu1129Ter)
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.422del (p.Asn141fs)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) rs1557229736
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001364171.2(ODAD1):c.170+1G>A
NM_001364171.2(ODAD1):c.424del (p.Leu142fs)
NM_001364171.2(ODAD1):c.451del (p.Arg151fs)
NM_001365088.1(SLC12A6):c.620G>A (p.Arg207His) rs1555381416
NM_001365276.2(TNXB):c.10004dup (p.Asn3335fs) rs779059111
NM_001365276.2(TNXB):c.1878del (p.His626fs) rs1554334255
NM_001365276.2(TNXB):c.1894G>T (p.Glu632Ter)
NM_001365276.2(TNXB):c.2929del (p.Leu977fs)
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer) rs1779660599
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) rs2127254498
NM_001365276.2(TNXB):c.4461dup (p.Asn1488fs)
NM_001365276.2(TNXB):c.4573C>T (p.Arg1525Ter)
NM_001365276.2(TNXB):c.4778_4779del (p.Val1593fs)
NM_001365276.2(TNXB):c.5810_5811del (p.Ser1937fs)
NM_001365276.2(TNXB):c.8516_8517del (p.Pro2839fs)
NM_001365276.2(TNXB):c.8613del (p.Phe2871fs) rs1777434181
NM_001365536.1(SCN9A):c.1124_1126delinsCC (p.Gly375fs)
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) rs769971743
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) rs1553479216
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) rs121908916
NM_001365902.3(NFIX):c.1180del (p.His394fs) rs1555707363
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter) rs1555696499
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.559+1G>A rs1057518152
NM_001365999.1(SZT2):c.2435_2436del (p.Leu812fs) rs1652887200
NM_001365999.1(SZT2):c.2621dup (p.His875fs)
NM_001365999.1(SZT2):c.4249_4250del (p.Leu1417fs)
NM_001365999.1(SZT2):c.5113del (p.Met1705fs)
NM_001365999.1(SZT2):c.8062C>T (p.Arg2688Ter) rs1394131270
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001367624.2(ZNF469):c.1171_1175del (p.Leu391fs)
NM_001367624.2(ZNF469):c.1963dup (p.His655fs) rs1259194902
NM_001367624.2(ZNF469):c.2193del (p.Thr732fs)
NM_001367624.2(ZNF469):c.449del (p.Val150fs)
NM_001367624.2(ZNF469):c.4882_4883del (p.Thr1628fs)
NM_001367624.2(ZNF469):c.526G>T (p.Glu176Ter)
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001367624.2(ZNF469):c.6445C>T (p.Gln2149Ter)
NM_001367624.2(ZNF469):c.6676_6679del (p.Ser2226fs)
NM_001367721.1(CASK):c.1015+1G>C rs1569350501
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter) rs1555977248
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter) rs1556004104
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367873.1(SOX6):c.1038del (p.Phe346fs)
NM_001367873.1(SOX6):c.1083C>G (p.Tyr361Ter)
NM_001367873.1(SOX6):c.170del (p.Pro57fs)
NM_001367873.1(SOX6):c.706C>T (p.Gln236Ter) rs1851490729
NM_001367943.1(TCF7L2):c.1180G>T (p.Glu394Ter)
NM_001367943.1(TCF7L2):c.755_762del (p.Gln252fs)
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368894.2(PAX6):c.1225+1G>T rs1554982537
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) rs1554985028
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter) rs758739748
NM_001369.3(DNAH5):c.11047_11050del (p.Lys3682_Glu3683insTer) rs1750178563
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs)
NM_001369.3(DNAH5):c.11840del (p.Val3947fs)
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs)
NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer)
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter)
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs) rs768881056
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs)
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter)
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter) rs1344601147
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs) rs2151905765
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter)
NM_001369.3(DNAH5):c.5326del (p.Asp1776fs)
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter)
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter)
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) rs1474945018
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs) rs2151835119
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter)
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs) rs2127015093
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs) rs1391084505
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter)
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs) rs1755969817
NM_001369.3(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter) rs764948792
NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter)
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs)
NM_001369268.1(ACAN):c.1227del (p.Ser410fs) rs1555454560
NM_001369268.1(ACAN):c.2743del (p.Glu915fs)
NM_001369268.1(ACAN):c.361C>T (p.Gln121Ter)
NM_001369268.1(ACAN):c.4817T>A (p.Leu1606Ter)
NM_001369268.1(ACAN):c.5337del (p.Phe1780fs) rs1897097454
NM_001369268.1(ACAN):c.5491_5500del (p.Phe1831fs) rs1897102163
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter) rs1554792556
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)
NM_001370100.5(ZMYND11):c.740dup (p.Asp247fs) rs1950618250
NM_001370100.5(ZMYND11):c.858_883dup (p.Pro295delinsLeuLysTer)
NM_001370259.2(MEN1):c.1001_1005dup (p.Glu336fs) rs1114167483
NM_001370259.2(MEN1):c.1004delinsTT (p.Arg335fs) rs1114167506
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs) rs2136119153
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp) rs2136118998
NM_001370259.2(MEN1):c.1013del (p.Leu338fs) rs2136118927
NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter) rs1592643178
NM_001370259.2(MEN1):c.1016del (p.Gln339fs)
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) rs1114167482
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1049+1G>C rs1114167489
NM_001370259.2(MEN1):c.1049+2T>G
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter) rs767078097
NM_001370259.2(MEN1):c.1059C>G (p.Tyr353Ter)
NM_001370259.2(MEN1):c.1074_1078del (p.Glu358fs)
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)
NM_001370259.2(MEN1):c.1099del (p.Glu366_Val367insTer)
NM_001370259.2(MEN1):c.1100_1131del (p.Val367fs) rs1592640213
NM_001370259.2(MEN1):c.1110del (p.Asp370fs) rs794728658
NM_001370259.2(MEN1):c.1132G>T (p.Glu378Ter)
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1142_1143del (p.Ser381fs)
NM_001370259.2(MEN1):c.1154_1155dup (p.Gly386fs) rs1592640081
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter) rs772588551
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter) rs1060499984
NM_001370259.2(MEN1):c.1180del (p.Ser394fs)
NM_001370259.2(MEN1):c.1192C>T (p.Gln398Ter) rs886039418
NM_001370259.2(MEN1):c.1202del (p.Gly401fs) rs1941625647
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs) rs1114167513
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs) rs1592637440
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs) rs1114167524
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1252G>T (p.Asp418Tyr) rs104894264
NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
NM_001370259.2(MEN1):c.1269G>A (p.Trp423Ter) rs1114167533
NM_001370259.2(MEN1):c.1270G>T (p.Glu424Ter) rs1114167477
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) rs794728654
NM_001370259.2(MEN1):c.1330del (p.Ser443_Leu444insTer) rs1114167520
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_001370259.2(MEN1):c.1348C>T (p.Gln450Ter) rs1114167509
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) rs1592660101
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_001370259.2(MEN1):c.1350+1_1350+11del rs764570645
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs) rs2136092832
NM_001370259.2(MEN1):c.1380_1383del (p.Glu461fs)
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs) rs1114167531
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
NM_001370259.2(MEN1):c.1390delinsCCT (p.Ala464fs) rs1114167500
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) rs1592633463
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs) rs1114167536
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter) rs1941556077
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.1429del (p.Glu477fs)
NM_001370259.2(MEN1):c.1445del (p.Gly482fs)
NM_001370259.2(MEN1):c.1461dup (p.Lys488fs)
NM_001370259.2(MEN1):c.1464del (p.Lys488fs) rs886039420
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
NM_001370259.2(MEN1):c.1504_1507dup (p.Gly503fs) rs1114167476
NM_001370259.2(MEN1):c.1529_1530del (p.Ala510fs) rs1114167522
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs) rs794728659
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) rs794728630
NM_001370259.2(MEN1):c.1574del (p.Thr525fs) rs1114167514
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs) rs794728660
NM_001370259.2(MEN1):c.1609del (p.Val537fs) rs2136083128
NM_001370259.2(MEN1):c.1614dup (p.Ala539fs)
NM_001370259.2(MEN1):c.1638_1639dup (p.Glu547fs) rs1114167496
NM_001370259.2(MEN1):c.1643_1721delinsTG (p.Gly548fs) rs1555163136
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001370259.2(MEN1):c.1666G>T (p.Glu556Ter) rs1114167501
NM_001370259.2(MEN1):c.1675A>T (p.Lys559Ter)
NM_001370259.2(MEN1):c.1694dup (p.Val566fs)
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs) rs1114167523
NM_001370259.2(MEN1):c.190_196delinsAAGCCCAGCCCC (p.Gln64fs)
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) rs730882136
NM_001370259.2(MEN1):c.223del (p.Leu75fs) rs1114167485
NM_001370259.2(MEN1):c.231C>A (p.Tyr77Ter)
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.234dup (p.Pro79fs) rs2136188431
NM_001370259.2(MEN1):c.237del (p.Val80fs) rs1114167486
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.255_261del (p.Ile85fs)
NM_001370259.2(MEN1):c.262del (p.Ala88fs)
NM_001370259.2(MEN1):c.265del (p.Leu89fs) rs1114167490
NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter) rs1114167527
NM_001370259.2(MEN1):c.273_276del (p.Arg92fs) rs1114167516
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter) rs886039413
NM_001370259.2(MEN1):c.292del (p.Arg98fs)
NM_001370259.2(MEN1):c.298_299del (p.Ala100fs)
NM_001370259.2(MEN1):c.2T>C (p.Met1Thr)
NM_001370259.2(MEN1):c.2T>G (p.Met1Arg)
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_001370259.2(MEN1):c.327del (p.Gly111fs)
NM_001370259.2(MEN1):c.32del (p.Phe11fs) rs1592661082
NM_001370259.2(MEN1):c.336del (p.Ser113fs) rs1114167478
NM_001370259.2(MEN1):c.340dup (p.Ser114fs) rs886041213
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_001370259.2(MEN1):c.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.378del (p.Ile125_Trp126insTer) rs1114167492
NM_001370259.2(MEN1):c.386del (p.Leu129fs) rs1565651223
NM_001370259.2(MEN1):c.399C>A (p.Tyr133Ter)
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_001370259.2(MEN1):c.416A>G (p.His139Arg) rs1114167515
NM_001370259.2(MEN1):c.417del (p.His139fs) rs1114167540
NM_001370259.2(MEN1):c.41_42dup (p.Ser15fs) rs1592660983
NM_001370259.2(MEN1):c.429_432delinsATT (p.Phe144fs) rs1114167481
NM_001370259.2(MEN1):c.42del (p.Ser15fs)
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.431_432delinsAA (p.Phe144Ter) rs1114167511
NM_001370259.2(MEN1):c.435delinsTT (p.Ile147fs)
NM_001370259.2(MEN1):c.442del (p.Thr148fs) rs1941975256
NM_001370259.2(MEN1):c.446-1G>A rs1064793672
NM_001370259.2(MEN1):c.446-2A>G rs886042035
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp) rs794728648
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) rs1565648656
NM_001370259.2(MEN1):c.490_506dup (p.Leu170fs)
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.526del (p.Ala176fs)
NM_001370259.2(MEN1):c.529_530del (p.Leu177fs) rs1114167470
NM_001370259.2(MEN1):c.530del (p.Leu177fs) rs1114167503
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) rs794728650
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs) rs1555165756
NM_001370259.2(MEN1):c.577del (p.Thr193fs) rs1592650986
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
NM_001370259.2(MEN1):c.625del (p.Gln209fs) rs1114167538
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.654+1G>A rs794728622
NM_001370259.2(MEN1):c.654+1G>T rs794728622
NM_001370259.2(MEN1):c.655-1G>C rs1592649615
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter) rs886039414
NM_001370259.2(MEN1):c.666C>A (p.Tyr222Ter) rs1555165597
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs) rs1114167519
NM_001370259.2(MEN1):c.688dup (p.Cys230fs)
NM_001370259.2(MEN1):c.690T>A (p.Cys230Ter)
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter) rs1114167499
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer) rs2136197117
NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys) rs1114167488
NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs) rs1114167534
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs) rs1592649069
NM_001370259.2(MEN1):c.727_734del (p.Ile243fs) rs1114167532
NM_001370259.2(MEN1):c.742del (p.Asp248fs)
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter) rs1057520733
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.783+1G>T rs794728652
NM_001370259.2(MEN1):c.784-2A>G rs1114167472
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter) rs2136134076
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
NM_001370259.2(MEN1):c.824+1G>A rs1060499976
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys) rs1187634059
NM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTT rs1592646831
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_001370259.2(MEN1):c.89_90del (p.Glu30fs)
NM_001370259.2(MEN1):c.911del (p.Lys304fs) rs1592646226
NM_001370259.2(MEN1):c.912+1G>A rs398124437
NM_001370259.2(MEN1):c.912+1G>C rs398124437
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) rs1565644366
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370259.2(MEN1):c.961del (p.Tyr321fs)
NM_001370259.2(MEN1):c.967del (p.Tyr323fs) rs1114167541
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp) rs1259383083
NM_001370298.3(FGD4):c.2104del (p.Cys702fs)
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr) rs1681107508
NM_001371279.1(REEP1):c.327del (p.Ala110fs)
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371623.1(TCOF1):c.2624C>G (p.Ser875Ter)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)
NM_001371904.1(APOA5):c.42dup (p.Leu15fs)
NM_001371928.1(AHDC1):c.1433del (p.Met478fs) rs2019490062
NM_001371928.1(AHDC1):c.1551del (p.Thr518fs) rs2019482037
NM_001371928.1(AHDC1):c.1910dup (p.Cys637fs) rs2019459021
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) rs2019433712
NM_001371928.1(AHDC1):c.3032C>A (p.Ser1011Ter) rs2019363981
NM_001371928.1(AHDC1):c.3474dup (p.Val1159fs)
NM_001371928.1(AHDC1):c.4547del (p.Lys1516fs) rs2019237217
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs) rs2083233502
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs) rs2083233723
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs) rs1555910182
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter) rs1064795759
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372044.2(SHANK3):c.871_881del (p.Gly291fs)
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) rs151344525
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_001372066.1(TFAP2A):c.769A>T (p.Arg257Trp) rs121909574
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_001372076.1(PAX9):c.464_465dup (p.Tyr156fs) rs1555316743
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.1597dup (p.Arg533fs) rs1553477189
NM_001374353.1(GLI2):c.1718del (p.Gly573fs)
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.562del (p.Ala188fs) rs869312965
NM_001374736.1(DST):c.12067C>T (p.Gln4023Ter)
NM_001374736.1(DST):c.12295G>T (p.Glu4099Ter)
NM_001374736.1(DST):c.12924_12927delinsTA (p.Ser4309fs)
NM_001374736.1(DST):c.13478del (p.Phe4492_Leu4493insTer)
NM_001374736.1(DST):c.15158_15159del (p.Gln5053fs)
NM_001374736.1(DST):c.15529del (p.Thr5177fs)
NM_001374736.1(DST):c.16565_16566del (p.Gly5522fs)
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter) rs2152403168
NM_001374736.1(DST):c.2989C>T (p.Gln997Ter)
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1293_1314del (p.Gly434fs) rs1778945620
NM_001374828.1(ARID1B):c.1625_1632dup (p.Ala545fs)
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) rs1554256703
NM_001374828.1(ARID1B):c.1923T>G (p.Tyr641Ter) rs1782980450
NM_001374828.1(ARID1B):c.2581+2T>C rs1786833331
NM_001374828.1(ARID1B):c.2886del (p.Ala963fs) rs1789979659
NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs) rs1554226131
NM_001374828.1(ARID1B):c.3053dup (p.Val1019fs)
NM_001374828.1(ARID1B):c.3345+1G>A rs1791922830
NM_001374828.1(ARID1B):c.3552C>G (p.Tyr1184Ter) rs758570139
NM_001374828.1(ARID1B):c.3581_3585delinsCAGA (p.Leu1194fs) rs1562328476
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3746del (p.Ala1249fs) rs1554231814
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.3926C>A (p.Ser1309Ter) rs1321954955
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.3973_3974del (p.Ser1325fs)
NM_001374828.1(ARID1B):c.4050del (p.Gly1351fs) rs1793228690
NM_001374828.1(ARID1B):c.4058+1G>A
NM_001374828.1(ARID1B):c.4146dup (p.Tyr1383fs) rs1793251352
NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter) rs1554234424
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4441dup (p.Tyr1481fs)
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4540_4541del (p.Met1514fs) rs797044859
NM_001374828.1(ARID1B):c.4550del (p.Met1517fs)
NM_001374828.1(ARID1B):c.4689del (p.His1564fs)
NM_001374828.1(ARID1B):c.4839C>G (p.Tyr1613Ter) rs1554235792
NM_001374828.1(ARID1B):c.4940C>A (p.Ser1647Ter) rs867707366
NM_001374828.1(ARID1B):c.5028del (p.Ser1678fs)
NM_001374828.1(ARID1B):c.5044_5047del (p.Phe1682fs)
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5257dup (p.Asp1753fs) rs1554236054
NM_001374828.1(ARID1B):c.5315del (p.Ala1772fs) rs1794278792
NM_001374828.1(ARID1B):c.5469del (p.Glu1823fs) rs1554237050
NM_001374828.1(ARID1B):c.5663dup (p.Thr1889fs)
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter) rs1554237335
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.5955dup (p.Gly1986fs) rs1562352435
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6181C>T (p.Gln2061Ter) rs1554237689
NM_001374828.1(ARID1B):c.6193del (p.Ala2065fs) rs1794509686
NM_001374828.1(ARID1B):c.6408G>A (p.Trp2136Ter) rs1554237848
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter) rs1554238035
NM_001374828.1(ARID1B):c.6713T>G (p.Leu2238Ter)
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.6823C>T (p.Gln2275Ter) rs1554238093
NM_001374828.1(ARID1B):c.6916C>T (p.Gln2306Ter) rs1308155037
NM_001374828.1(ARID1B):c.966_979delinsG (p.Ala323fs) rs1554247637
NM_001375380.1(EBF3):c.1081C>T (p.Gln361Ter) rs1850628942
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs) rs1064794961
NM_001375380.1(EBF3):c.289_291+1del rs1859684230
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.537_544del (p.Pro180fs)
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001375380.1(EBF3):c.634C>T (p.Gln212Ter) rs1852896440
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609
NM_001375765.1(GIGYF1):c.944_945del (p.Leu315fs)
NM_001376.5(DYNC1H1):c.10033G>A (p.Glu3345Lys) rs797044928
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918
NM_001376571.1(MADD):c.4392_4395del (p.Cys1464fs)
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001377304.1(GFI1B):c.784G>A (p.Asp262Asn) rs1554724691
NM_001378120.1(MBD5):c.4819G>T (p.Glu1607Ter)
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) rs1293936199
NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)
NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter) rs1553517456
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.3780del (p.Cys1260fs) rs1555639568
NM_001378183.1(PIEZO2):c.4453del (p.Ile1484_Val1485insTer) rs2037335667
NM_001378183.1(PIEZO2):c.7911del (p.Asn2638fs) rs745895175
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter) rs1555926209
NM_001378418.1(TCF20):c.2685del (p.Arg896fs) rs1555925903
NM_001378418.1(TCF20):c.2786_2787del (p.Lys929fs) rs1921088321
NM_001378418.1(TCF20):c.4368del (p.Gly1457fs) rs1555924435
NM_001378418.1(TCF20):c.5069dup (p.Pro1692fs) rs1555923822
NM_001378418.1(TCF20):c.5719del (p.Arg1907fs) rs1936673622
NM_001378418.1(TCF20):c.919C>T (p.Gln307Ter)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del) rs878853175
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs) rs2104104189
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs) rs2104104427
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter) rs747747269
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11688del (p.Asn3896fs)
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs) rs1553421886
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs) rs2104058704
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2214_2215dup (p.Thr739fs)
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2663C>A (p.Ser888Ter)
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2929_2930dup (p.Ser978fs)
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter) rs780622565
NM_001378454.1(ALMS1):c.3525_3526del (p.Gly1176fs)
NM_001378454.1(ALMS1):c.4143C>A (p.Tyr1381Ter)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001378454.1(ALMS1):c.6165del (p.Asn2055fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7574_7587del (p.Cys2525fs)
NM_001378454.1(ALMS1):c.8151_8152del (p.Ser2718fs)
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8650del (p.Gln2884fs)
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs) rs2103961819
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378778.1(MPDZ):c.1345C>T (p.Arg449Ter)
NM_001378778.1(MPDZ):c.3860C>A (p.Ser1287Ter)
NM_001378778.1(MPDZ):c.3897dup (p.Pro1300fs)
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001379110.1(SLC9A6):c.465del (p.Ser158fs) rs2089536867
NM_001379200.1(TBX1):c.936-2A>G rs1555896474
NM_001379210.1(SLC25A26):c.424C>T (p.Arg142Ter)
NM_001379291.1(BRD4):c.1393_1420delinsCAA (p.Val465fs)
NM_001379403.1(WDR26):c.1193del (p.Pro398fs)
NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter)
NM_001379403.1(WDR26):c.1849del (p.Thr618fs)
NM_001379403.1(WDR26):c.1925_1934del (p.Ala641_Leu642insTer) rs1553353206
NM_001379403.1(WDR26):c.2094G>A (p.Trp698Ter) rs1673192650
NM_001379403.1(WDR26):c.509dup (p.Asn170fs) rs1674500220
NM_001379500.1(COL18A1):c.2825_2835delinsA (p.Gly942fs)
NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)
NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)
NM_001379659.1(ZNF142):c.3311C>G (p.Ser1104Ter)
NM_001379659.1(ZNF142):c.3904del (p.Ala1302fs)
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.5408dup (p.Asn1803fs)
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)
NM_001385012.1(NBEA):c.3895C>T (p.Arg1299Ter) rs2069582817
NM_001385012.1(NBEA):c.4477_4478del (p.Arg1493fs) rs2070635297
NM_001386125.1(OBSCN):c.21291-7_21294del rs869312933
NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr) rs1131692272
NM_001386140.1(MTTP):c.942C>G (p.Tyr314Ter)
NM_001386298.1(CIC):c.3179+1G>T rs2147185256
NM_001386298.1(CIC):c.3704C>G (p.Ser1235Ter)
NM_001386298.1(CIC):c.7046dup (p.Asp2349fs) rs1555773554
NM_001389.5(DSCAM):c.3276del (p.Glu1093fs) rs1375541923
NM_001389.5(DSCAM):c.5260C>T (p.Arg1754Ter) rs1369501286
NM_001393769.1(MED12L):c.3733C>T (p.Arg1245Ter) rs1756333400
NM_001394372.1(BICRA):c.1522C>T (p.Gln508Ter)
NM_001394998.1(TANC2):c.2949del (p.Asn984fs)
NM_001394998.1(TANC2):c.3238-1G>A
NM_001395002.1(MAP4K4):c.375del (p.Glu127fs)
NM_001395002.1(MAP4K4):c.518G>A (p.Gly173Asp)
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter) rs1555907278
NM_001429.4(EP300):c.1091del (p.Cys364fs)
NM_001429.4(EP300):c.1372C>T (p.Gln458Ter)
NM_001429.4(EP300):c.1447C>T (p.Gln483Ter)
NM_001429.4(EP300):c.1508dup (p.Met503fs) rs1555907749
NM_001429.4(EP300):c.1879_1889delinsTTGAAGTGGTAGTATTC (p.Ala627_Tyr630delinsLeuLysTrpTer)
NM_001429.4(EP300):c.272del (p.Pro91fs) rs1555905780
NM_001429.4(EP300):c.2855C>G (p.Ser952Ter) rs2059047548
NM_001429.4(EP300):c.2874dup (p.Ser959Ter)
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4575dup (p.Glu1526fs) rs2059177123
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs) rs1555911580
NM_001429.4(EP300):c.580_587del (p.Gly194fs)
NM_001429.4(EP300):c.6792_6793insT (p.Leu2265fs)
NM_001456.3(FLNA):c.3806delG
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001458.4(FLNC):c.2813delG
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) rs2128934390
NM_001458.5(FLNC):c.1274del (p.Glu425fs)
NM_001458.5(FLNC):c.1497del (p.Phe500fs)
NM_001458.5(FLNC):c.1509_1521del (p.Ala504fs)
NM_001458.5(FLNC):c.1556del (p.Thr519fs)
NM_001458.5(FLNC):c.1749del (p.Gly584fs)
NM_001458.5(FLNC):c.1756del (p.Val586fs)
NM_001458.5(FLNC):c.1837C>T (p.Gln613Ter)
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1994_1995delinsAA (p.Cys665Ter)
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter) rs1808336992
NM_001458.5(FLNC):c.2278G>T (p.Glu760Ter)
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) rs1389742580
NM_001458.5(FLNC):c.2809C>T (p.Gln937Ter)
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3014C>A (p.Ser1005Ter)
NM_001458.5(FLNC):c.302_306delinsTGT (p.Ser101fs)
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
NM_001458.5(FLNC):c.3123_3126del (p.Tyr1042fs)
NM_001458.5(FLNC):c.3202dup (p.Tyr1068fs)
NM_001458.5(FLNC):c.3351T>A (p.Cys1117Ter)
NM_001458.5(FLNC):c.338del (p.Lys113fs)
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) rs2128936511
NM_001458.5(FLNC):c.3855del (p.Asn1286fs)
NM_001458.5(FLNC):c.3901_3904del (p.Asp1301fs)
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001458.5(FLNC):c.4136del (p.Gly1379fs)
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
NM_001458.5(FLNC):c.4219_4220delinsA (p.Val1407fs)
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.4702del (p.Asp1568fs)
NM_001458.5(FLNC):c.488_491dup (p.Leu165fs)
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4946del (p.Gly1649fs) rs1282619643
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.5049dup (p.Thr1684fs)
NM_001458.5(FLNC):c.5118del (p.Tyr1705_Tyr1706insTer)
NM_001458.5(FLNC):c.531del (p.Ile178fs) rs2128933676
NM_001458.5(FLNC):c.5417C>A (p.Ser1806Ter)
NM_001458.5(FLNC):c.5559T>G (p.Tyr1853Ter)
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) rs2128933685
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
NM_001458.5(FLNC):c.5926C>T (p.Gln1976Ter)
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
NM_001458.5(FLNC):c.600dup (p.Gly201fs)
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6279del (p.Asp2093fs)
NM_001458.5(FLNC):c.6337_6338del (p.Lys2113fs)
NM_001458.5(FLNC):c.6822C>G (p.Tyr2274Ter)
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
NM_001458.5(FLNC):c.711del (p.Glu238fs)
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
NM_001458.5(FLNC):c.7327del (p.Arg2443fs)
NM_001458.5(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.5(FLNC):c.7374del (p.Glu2458fs)
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs) rs1554401837
NM_001458.5(FLNC):c.778del (p.Ala260fs)
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.5(FLNC):c.880C>T (p.Gln294Ter)
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001478.5(B4GALNT1):c.863_870dup (p.Arg291fs)
NM_001510.4(GRID2):c.1960G>A (p.Ala654Thr)
NM_001510.4(GRID2):c.1961C>G (p.Ala654Gly) rs1726914026
NM_001519.4(BRF1):c.1649del (p.Gly550fs)
NM_001519.4(BRF1):c.794_795insTTTA (p.Glu266fs)
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001555.5(IGSF1):c.1814_1836dup (p.Arg613delinsGlyArgThrTer)
NM_001605.3(AARS1):c.1699C>T (p.Gln567Ter)
NM_001605.3(AARS1):c.661C>T (p.Gln221Ter)
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) rs886038978
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) rs587777384
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) rs797044959
NM_001625.4(AK2):c.330+5G>A rs1569646997
NM_001655.5(ARCN1):c.76C>T (p.Arg26Ter)
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001719.3(BMP7):c.457del (p.His153fs) rs1555815731
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001759.4(CCND2):c.841C>G (p.Pro281Ala) rs587777621
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) rs797044870
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) rs1940161368
NM_001844.5(COL2A1):c.1388_1996-108del
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys) rs1555167157
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.2302-2A>G rs1939127867
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg) rs1555165183
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter) rs1555164672
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg) rs1555302942
NM_001845.6(COL4A1):c.3505+1G>A rs1555302735
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser) rs113994114
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp) rs1555872965
NM_001849.4(COL6A2):c.955-2A>G rs1555873084
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001873.4(CPE):c.1150C>T (p.Gln384Ter)
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
NM_001904.4(CTNNB1):c.1081+1G>A rs2078201673
NM_001904.4(CTNNB1):c.1135C>T (p.Gln379Ter)
NM_001904.4(CTNNB1):c.1158del (p.Asn387fs) rs1553631783
NM_001904.4(CTNNB1):c.1574_1575insT (p.Pro526fs) rs2078377820
NM_001904.4(CTNNB1):c.1683G>C (p.Val561=) rs1553632001
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1782_1783del (p.Thr595fs)
NM_001904.4(CTNNB1):c.1848_1858del (p.Val617fs)
NM_001904.4(CTNNB1):c.1870dup (p.Asp624fs) rs2078435846
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.788T>G (p.Leu263Ter) rs2078159952
NM_001904.4(CTNNB1):c.796C>T (p.Gln266Ter) rs1553630472
NM_001904.4(CTNNB1):c.804del (p.Ala269fs) rs2078160204
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1164del (p.Phe388fs)
NM_001943.5(DSG2):c.1211C>G (p.Ser404Ter)
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)
NM_001943.5(DSG2):c.449_450del (p.Leu150fs)
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)
NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs) rs794728100
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.289G>A (p.Asp97Asn) rs2145945425
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.424A>G (p.Thr142Ala) rs1568997118
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001967.4(EIF4A2):c.1084G>A (p.Gly362Ser)
NM_001987.4(ETV6):c.1153-5_1153-1del
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_002016.2(FLG):c.1830del (p.Arg612fs) rs1570913142
NM_002024.6(FMR1):c.104+3_104+6del rs2043190584
NM_002025.4(AFF2):c.3618_3619insA (p.Gly1207fs)
NM_002025.4(AFF2):c.76A>T (p.Lys26Ter) rs1557256416
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1462G>T (p.Glu488Ter)
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys) rs797044855
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002069.6(GNAI1):c.809A>G (p.Lys270Arg) rs2115712676
NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn) rs1553191393
NM_002074.5(GNB1):c.188G>A (p.Trp63Ter)
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly) rs1553194162
NM_002074.5(GNB1):c.640C>T (p.Arg214Ter) rs1002519501
NM_002087.4(GRN):c.1153G>T (p.Glu385Ter)
NM_002087.4(GRN):c.967_976del (p.Pro323fs)
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) rs1189538200
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.3(LAMP2):c.109G>T (p.Glu37Ter)
NM_002294.3(LAMP2):c.371_375del (p.Thr124fs)
NM_002294.3(LAMP2):c.64+4delinsGT rs1556123906
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.911_914del (p.Tyr304fs)
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.974del (p.Leu325fs) rs730880498
NM_002317.7(LOX):c.210_226dup (p.Val76fs)
NM_002317.7(LOX):c.558C>G (p.Tyr186Ter)
NM_002317.7(LOX):c.732_735del (p.Cys244fs) rs779512296
NM_002317.7(LOX):c.841C>T (p.Arg281Ter)
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) rs1244761864
NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) rs765402802
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002335.4(LRP5):c.500G>C (p.Trp167Ser) rs770383372
NM_002336.3(LRP6):c.1003C>T (p.Arg335Ter) rs1565611848
NM_002340.6(LSS):c.494del (p.Gly165fs)
NM_002351.5(SH2D1A):c.150C>A (p.Tyr50Ter) rs1556620698
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002382.5(MAX):c.124dup (p.Ser42fs)
NM_002382.5(MAX):c.13del (p.Asp5fs)
NM_002382.5(MAX):c.169A>T (p.Lys57Ter)
NM_002382.5(MAX):c.172-2A>G
NM_002382.5(MAX):c.173del (p.Ala58fs)
NM_002382.5(MAX):c.179_182dup (p.Gln62fs)
NM_002382.5(MAX):c.200C>A (p.Ala67Asp) rs786202340
NM_002382.5(MAX):c.210T>G (p.Tyr70Ter)
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.22G>T (p.Glu8Ter) rs752477890
NM_002382.5(MAX):c.233dup (p.Asn78fs) rs587781931
NM_002382.5(MAX):c.244C>T (p.Gln82Ter)
NM_002382.5(MAX):c.271C>T (p.Gln91Ter)
NM_002382.5(MAX):c.295+1G>A rs786203385
NM_002382.5(MAX):c.295+1G>T rs786203385
NM_002382.5(MAX):c.320C>A (p.Ser107Ter) rs876660073
NM_002382.5(MAX):c.64-2A>G
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_002382.5(MAX):c.98dup (p.Arg35fs) rs1555343169
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro) rs397514655
NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer) rs1554139771
NM_002397.5(MEF2C):c.204_208del (p.Lys68fs)
NM_002397.5(MEF2C):c.214del (p.Tyr72fs) rs1554139723
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002397.5(MEF2C):c.64_77del (p.Thr22fs)
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002430.3(MN1):c.1627C>T (p.Gln543Ter)
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.922C>T (p.Gln308Ter)
NM_002439.3(MSH3):c.1765delG
NM_002439.3(MSH3):c.2814delG
NM_002439.5(MSH3):c.1000del (p.Tyr334fs)
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.1097_1100dup (p.Tyr367Ter)
NM_002439.5(MSH3):c.1116del (p.Glu373fs) rs2112816043
NM_002439.5(MSH3):c.1126G>T (p.Glu376Ter)
NM_002439.5(MSH3):c.1130_1132delinsTT (p.Asn377fs)
NM_002439.5(MSH3):c.1131_1134del (p.Asn377fs)
NM_002439.5(MSH3):c.1148_1149del (p.Lys383fs)
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.1148dup (p.Asn385fs) rs587776701
NM_002439.5(MSH3):c.1161del (p.Phe387fs)
NM_002439.5(MSH3):c.1180C>T (p.Gln394Ter)
NM_002439.5(MSH3):c.1216C>T (p.Gln406Ter)
NM_002439.5(MSH3):c.122del (p.Thr41fs)
NM_002439.5(MSH3):c.1235C>G (p.Ser412Ter)
NM_002439.5(MSH3):c.1246_1265del (p.Thr416fs)
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.1296del (p.Leu432fs) rs1749906415
NM_002439.5(MSH3):c.1305_1308del (p.Thr436fs)
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs) rs757194485
NM_002439.5(MSH3):c.131_138del (p.Ala44fs) rs2112797412
NM_002439.5(MSH3):c.1324del (p.Arg442fs)
NM_002439.5(MSH3):c.1339del (p.Ser447fs)
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter) rs963234468
NM_002439.5(MSH3):c.1371del (p.Met458fs)
NM_002439.5(MSH3):c.1376del (p.Asp459fs)
NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)
NM_002439.5(MSH3):c.139_178del (p.Val47fs)
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs) rs778610412
NM_002439.5(MSH3):c.146del (p.Pro49fs) rs1580538168
NM_002439.5(MSH3):c.147_154dup (p.Ala52fs)
NM_002439.5(MSH3):c.1484T>A (p.Leu495Ter)
NM_002439.5(MSH3):c.1489A>T (p.Lys497Ter)
NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs) rs1743353294
NM_002439.5(MSH3):c.1508del (p.Leu503fs)
NM_002439.5(MSH3):c.1524del (p.Lys508fs) rs1580589397
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter) rs1379605717
NM_002439.5(MSH3):c.1536del (p.Glu512fs)
NM_002439.5(MSH3):c.1554_1558delinsCCTA (p.Met518fs) rs1743355453
NM_002439.5(MSH3):c.1579C>T (p.Gln527Ter) rs1204734473
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1636G>T (p.Glu546Ter)
NM_002439.5(MSH3):c.1644del (p.Gln549fs) rs2112866857
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs) rs1580597397
NM_002439.5(MSH3):c.1660_1661del (p.Met554fs)
NM_002439.5(MSH3):c.1679del (p.Leu560fs)
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter) rs1395288001
NM_002439.5(MSH3):c.1700_1702delinsTT (p.Thr567fs)
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.1749del (p.Leu584fs)
NM_002439.5(MSH3):c.1758_1762del (p.Leu587fs) rs776738086
NM_002439.5(MSH3):c.1772del (p.Asn591fs) rs1580027407
NM_002439.5(MSH3):c.1836_1845del (p.Glu612fs)
NM_002439.5(MSH3):c.1871del (p.Gly624fs)
NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer) rs1260807695
NM_002439.5(MSH3):c.1900del (p.Ser634fs)
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs) rs1580033751
NM_002439.5(MSH3):c.2018del (p.Ile672_Leu673insTer)
NM_002439.5(MSH3):c.2057T>G (p.Leu686Ter) rs1744154635
NM_002439.5(MSH3):c.205_224del (p.Pro69fs)
NM_002439.5(MSH3):c.2061_2062del (p.Lys687fs)
NM_002439.5(MSH3):c.2082del (p.Val696fs)
NM_002439.5(MSH3):c.2103_2106del (p.Glu701fs)
NM_002439.5(MSH3):c.2105del (p.Leu702fs)
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs) rs1455445683
NM_002439.5(MSH3):c.211_218dup (p.Gln74fs)
NM_002439.5(MSH3):c.211_230dup (p.His78fs) rs1749219575
NM_002439.5(MSH3):c.2141dup (p.Arg715fs) rs751236312
NM_002439.5(MSH3):c.2149del (p.Asp717fs)
NM_002439.5(MSH3):c.215del (p.Pro72fs)
NM_002439.5(MSH3):c.2194G>T (p.Glu732Ter)
NM_002439.5(MSH3):c.2207_2208del (p.Ile736fs) rs2112885246
NM_002439.5(MSH3):c.220C>T (p.Gln74Ter)
NM_002439.5(MSH3):c.2216del (p.Asn739fs) rs1580035033
NM_002439.5(MSH3):c.2227C>T (p.Gln743Ter) rs1350652736
NM_002439.5(MSH3):c.2240dup (p.Ser748fs)
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs) rs1416092389
NM_002439.5(MSH3):c.2282del (p.Val761fs)
NM_002439.5(MSH3):c.2300_2303del (p.Asp767fs) rs1462955256
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.2328_2334del (p.Val777fs)
NM_002439.5(MSH3):c.2344_2347del (p.Ser782fs)
NM_002439.5(MSH3):c.2380C>T (p.Gln794Ter)
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter) rs748016039
NM_002439.5(MSH3):c.2420G>A (p.Trp807Ter) rs2112007993
NM_002439.5(MSH3):c.242del (p.Thr81fs) rs752795642
NM_002439.5(MSH3):c.2454T>A (p.Tyr818Ter) rs1744531551
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter) rs1749286503
NM_002439.5(MSH3):c.2575del (p.Val858_Ile859insTer)
NM_002439.5(MSH3):c.2582dup (p.Asn861fs)
NM_002439.5(MSH3):c.2609T>A (p.Leu870Ter)
NM_002439.5(MSH3):c.260_263del (p.Lys87fs) rs756190979
NM_002439.5(MSH3):c.2621del (p.Gln874fs)
NM_002439.5(MSH3):c.263_267del (p.Lys88fs) rs777843647
NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer) rs1561486632
NM_002439.5(MSH3):c.2670_2671del (p.Arg890fs) rs1561486632
NM_002439.5(MSH3):c.2674dup (p.Met892fs) rs2112054145
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
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.2791delinsTC (p.Ile931fs)
NM_002439.5(MSH3):c.2807del (p.Phe936fs) rs1580066605
NM_002439.5(MSH3):c.2816_2828del (p.Met939fs)
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.2877del (p.Ala960fs)
NM_002439.5(MSH3):c.2884dup (p.Ile962fs)
NM_002439.5(MSH3):c.2887del (p.Ile963fs) rs1745878088
NM_002439.5(MSH3):c.2905C>T (p.Gln969Ter)
NM_002439.5(MSH3):c.2905_2906delinsT (p.Gln969fs)
NM_002439.5(MSH3):c.292A>T (p.Lys98Ter) rs1749288232
NM_002439.5(MSH3):c.2967dup (p.Ala990fs) rs2112106614
NM_002439.5(MSH3):c.296dup (p.Lys100fs) rs1580540688
NM_002439.5(MSH3):c.2988T>G (p.Tyr996Ter)
NM_002439.5(MSH3):c.2990del (p.Phe997fs)
NM_002439.5(MSH3):c.302_306del (p.Val101fs) rs1749288569
NM_002439.5(MSH3):c.3046G>T (p.Glu1016Ter)
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)
NM_002439.5(MSH3):c.3068_3069del (p.His1023fs)
NM_002439.5(MSH3):c.307_310del (p.Lys103fs) rs1259647122
NM_002439.5(MSH3):c.313C>T (p.Gln105Ter)
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.3171C>G (p.Tyr1057Ter)
NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)
NM_002439.5(MSH3):c.322G>T (p.Glu108Ter)
NM_002439.5(MSH3):c.335_336del (p.Asp112fs)
NM_002439.5(MSH3):c.344dup (p.Met115fs)
NM_002439.5(MSH3):c.347_348del (p.Ser116fs)
NM_002439.5(MSH3):c.392C>G (p.Ser131Ter) rs2112808726
NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)
NM_002439.5(MSH3):c.444_448del (p.Arg150fs)
NM_002439.5(MSH3):c.460_461del (p.Glu154fs) rs1580546655
NM_002439.5(MSH3):c.513del (p.Asp171fs) rs1749544783
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.594del (p.Phe198fs) rs2112812135
NM_002439.5(MSH3):c.604_607del (p.Gln202fs)
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
NM_002439.5(MSH3):c.640C>T (p.Gln214Ter) rs952650934
NM_002439.5(MSH3):c.667A>T (p.Lys223Ter) rs2112812231
NM_002439.5(MSH3):c.702dup (p.Gln235fs)
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter) rs371356175
NM_002439.5(MSH3):c.704_705del (p.Gln235fs) rs1749674216
NM_002439.5(MSH3):c.739del (p.Val247fs)
NM_002439.5(MSH3):c.747T>A (p.Cys249Ter) rs1272356369
NM_002439.5(MSH3):c.762T>A (p.Tyr254Ter) rs1749675730
NM_002439.5(MSH3):c.781del (p.Glu261fs)
NM_002439.5(MSH3):c.790G>T (p.Glu264Ter) rs766997264
NM_002439.5(MSH3):c.819T>G (p.Tyr273Ter)
NM_002439.5(MSH3):c.827del (p.His275_Leu276insTer) rs2112813769
NM_002439.5(MSH3):c.873_876del (p.Val292fs) rs763478027
NM_002439.5(MSH3):c.928del (p.Thr310fs) rs1749751715
NM_002439.5(MSH3):c.951del (p.Ile318fs)
NM_002453.3(MTIF2):c.573C>G (p.His191Gln) rs745980045
NM_002453.3(MTIF2):c.899_909del (p.Val300fs) rs1281877795
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002470.4(MYH3):c.3751C>T (p.Arg1251Ter)
NM_002470.4(MYH3):c.5605_5659-47del rs1555524879
NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs) rs1555334047
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro) rs201831933
NM_002480.3(PPP1R12A):c.1333del (p.Ser445fs)
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter) rs1810856747
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs) rs1554560432
NM_002485.5(NBN):c.1040C>G (p.Ser347Ter) rs876660290
NM_002485.5(NBN):c.1048G>T (p.Glu350Ter) rs1586065938
NM_002485.5(NBN):c.1053dup (p.Leu352fs)
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1089del (p.Thr362_Tyr363insTer)
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1146del (p.Glu383fs) rs1586059584
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
NM_002485.5(NBN):c.1157del (p.Val386fs)
NM_002485.5(NBN):c.1162A>T (p.Lys388Ter)
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter) rs2129721628
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.5(NBN):c.1225dup (p.Thr409fs)
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) rs2129720196
NM_002485.5(NBN):c.1245_1248dup (p.Val417fs)
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter) rs1554559212
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1259del (p.Thr420fs) rs1586058892
NM_002485.5(NBN):c.1273A>T (p.Arg425Ter)
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1288C>T (p.Gln430Ter)
NM_002485.5(NBN):c.1332dup (p.Arg445Ter) rs1586058444
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1387dup (p.Thr463fs)
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter) rs755805461
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1424del (p.Met475fs)
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs) rs1586054483
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs) rs1586054483
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter) rs876658535
NM_002485.5(NBN):c.1518del (p.Gln506fs)
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
NM_002485.5(NBN):c.1546dup (p.Thr516fs)
NM_002485.5(NBN):c.1550dup (p.Asn517fs) rs587782344
NM_002485.5(NBN):c.1554dup (p.Asp519fs) rs1554558423
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1583del (p.Asp527_Leu528insTer) rs1554558406
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.1612_1696del (p.Lys538fs) rs1554558319
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640C>G (p.Ser547Ter)
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) rs1810540992
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1651del (p.Arg551fs)
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.5(NBN):c.1689_1693del (p.Glu564fs)
NM_002485.5(NBN):c.1690del (p.Glu564fs)
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs) rs1279184426
NM_002485.5(NBN):c.1718_1727dup (p.Asp577fs)
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.5(NBN):c.176_177insTA (p.Gln59fs)
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) rs1586052851
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter) rs1554558199
NM_002485.5(NBN):c.183del (p.Asp61fs) rs587782147
NM_002485.5(NBN):c.1846C>T (p.Gln616Ter)
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.5(NBN):c.1869dup (p.Arg624fs)
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter) rs1810267412
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter) rs2129659855
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.1940del (p.Ser647fs) rs1554556587
NM_002485.5(NBN):c.1958_1959delinsC (p.Lys653fs)
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter) rs1810183784
NM_002485.5(NBN):c.1986_1999del (p.Val663fs) rs587782653
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter) rs1554556485
NM_002485.5(NBN):c.2051del (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter) rs786203920
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2126_2127insTA (p.Ala710fs)
NM_002485.5(NBN):c.2141del (p.Arg714fs)
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.228_231dup (p.Val78fs) rs2129915522
NM_002485.5(NBN):c.250C>T (p.Gln84Ter) rs1586108714
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.298G>T (p.Gly100Ter) rs2129914287
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.320G>A (p.Arg107Lys) rs1345924774
NM_002485.5(NBN):c.328del (p.Tyr110fs) rs1554568029
NM_002485.5(NBN):c.353del (p.Ser118fs)
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) rs1563579387
NM_002485.5(NBN):c.383T>G (p.Leu128Ter) rs1060503463
NM_002485.5(NBN):c.393_400del (p.Ile132fs) rs2129909528
NM_002485.5(NBN):c.409_430del (p.Gly137fs)
NM_002485.5(NBN):c.414del (p.Phe138fs)
NM_002485.5(NBN):c.436G>T (p.Glu146Ter) rs1812023357
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.468del (p.Val157fs) rs1563578596
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.492dup (p.Leu165fs) rs1586101609
NM_002485.5(NBN):c.523G>T (p.Glu175Ter)
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.552_568dup (p.Pro190fs) rs1586101198
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.563dup (p.Gln189fs) rs1586101226
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.672del (p.Thr226fs) rs1586088503
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
NM_002485.5(NBN):c.794dup (p.Pro266fs)
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.827del (p.Thr276fs) rs1586086621
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.844dup (p.Ile282fs) rs1554563861
NM_002485.5(NBN):c.848del (p.Pro283fs) rs2129827996
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.880_886del (p.Met294fs) rs1586086338
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002491.3(NDUFB3):c.200del (p.Phe67fs) rs1553535063
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_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.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.259C>T (p.Gln87Ter) rs201671098
NM_002528.7(NTHL1):c.265dup (p.Val89fs) rs2150945928
NM_002528.7(NTHL1):c.307dup (p.Asp103fs) rs2150945390
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.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.417_436dup (p.Leu146fs)
NM_002528.7(NTHL1):c.418dup (p.Ala140fs) rs2150942398
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
NM_002528.7(NTHL1):c.444_450del (p.Ala148_Arg149insTer)
NM_002528.7(NTHL1):c.445_446del (p.Arg149fs)
NM_002528.7(NTHL1):c.445dup (p.Arg149fs) rs1596220365
NM_002528.7(NTHL1):c.460del (p.Asp154fs) rs1596220332
NM_002528.7(NTHL1):c.510del (p.Val171fs) rs1567369975
NM_002528.7(NTHL1):c.575dup (p.Tyr192Ter)
NM_002528.7(NTHL1):c.611_637delinsG (p.Val204fs)
NM_002528.7(NTHL1):c.633dup (p.Lys212fs)
NM_002528.7(NTHL1):c.668del (p.Gly223fs)
NM_002528.7(NTHL1):c.675_676del (p.Ser226fs) rs1567369247
NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter) rs1184801355
NM_002528.7(NTHL1):c.778G>T (p.Glu260Ter)
NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs) rs2084517687
NM_002528.7(NTHL1):c.84del (p.Pro30fs) rs2150957715
NM_002529.4(NTRK1):c.2088del (p.Glu697fs)
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) rs1571689751
NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter) rs2077499942
NM_002547.3(OPHN1):c.2110_2111del (p.Phe704fs)
NM_002578.5(PAK3):c.535G>T (p.Glu179Ter)
NM_002585.4(PBX1):c.518del (p.Asn173fs)
NM_002585.4(PBX1):c.685C>T (p.Arg229Ter) rs1668981132
NM_002591.4(PCK1):c.1234C>T (p.Gln412Ter)
NM_002599.5(PDE2A):c.574_592dup (p.Gly198fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) rs398122386
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) rs886037954
NM_002734.3(PRKAR1A):c.349delG
NM_002734.5(PRKAR1A):c.287_290dup (p.Gly98fs)
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) rs281864790
NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs)
NM_002734.5(PRKAR1A):c.853C>T (p.Gln285Ter)
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002764.4(PRPS1):c.307-2A>G rs1556299881
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002816.5(PSMD12):c.1071_1072del (p.Arg357fs) rs2041946364
NM_002816.5(PSMD12):c.415G>T (p.Glu139Ter)
NM_002830.4(PTPN4):c.745C>T (p.Arg249Ter)
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002860.4(ALDH18A1):c.1804A>T (p.Arg602Ter)
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
NM_002860.4(ALDH18A1):c.301C>T (p.Gln101Ter) rs1566039159
NM_002861.5(PCYT2):c.524_527del (p.Asp175fs)
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002878.4(RAD51D):c.-82_82+91del
NM_002878.4(RAD51D):c.131_144+24del rs1064795716
NM_002878.4(RAD51D):c.140_141insAA (p.Tyr47Ter) rs587782736
NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter) rs1555570285
NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter) rs374357106
NM_002878.4(RAD51D):c.185_200del (p.Ser62fs) rs786202179
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer) rs1555570266
NM_002878.4(RAD51D):c.213_214del (p.Tyr72fs)
NM_002878.4(RAD51D):c.216C>A (p.Tyr72Ter) rs148690585
NM_002878.4(RAD51D):c.216C>G (p.Tyr72Ter)
NM_002878.4(RAD51D):c.223del (p.Glu74_Leu75insTer)
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.273del (p.Lys91fs)
NM_002878.4(RAD51D):c.277_280del (p.Leu93fs)
NM_002878.4(RAD51D):c.287dup (p.Leu97fs) rs1597863362
NM_002878.4(RAD51D):c.293delinsCC (p.Tyr98fs)
NM_002878.4(RAD51D):c.2T>G (p.Met1Arg) rs1064794619
NM_002878.4(RAD51D):c.2dup (p.Met1fs) rs772306012
NM_002878.4(RAD51D):c.301G>T (p.Glu101Ter)
NM_002878.4(RAD51D):c.309del (p.Glu104fs)
NM_002878.4(RAD51D):c.315del (p.Ile105fs)
NM_002878.4(RAD51D):c.317_320del (p.Val106fs)
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter) rs1555568473
NM_002878.4(RAD51D):c.350_351del (p.Cys117fs) rs2142434009
NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter) rs1555568382
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs) rs876658297
NM_002878.4(RAD51D):c.382del (p.Leu128fs)
NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter) rs1597862732
NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)
NM_002878.4(RAD51D):c.433del (p.Arg145fs)
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter) rs1555568293
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter) rs1057521922
NM_002878.4(RAD51D):c.482dup (p.Glu162fs) rs2142429748
NM_002878.4(RAD51D):c.483del (p.Glu162fs) rs1597861892
NM_002878.4(RAD51D):c.486del (p.Ala163fs) rs2142429702
NM_002878.4(RAD51D):c.506del (p.Val169fs) rs2091604825
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.564_568delinsA (p.Val189fs)
NM_002878.4(RAD51D):c.564del (p.Val189fs) rs786202750
NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter) rs2091602962
NM_002878.4(RAD51D):c.57dup (p.Leu20fs)
NM_002878.4(RAD51D):c.590C>G (p.Ser197Ter)
NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer) rs587781527
NM_002878.4(RAD51D):c.668-4_670delinsCC
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter) rs1567726305
NM_002878.4(RAD51D):c.693_694delinsTT (p.Arg232Ter)
NM_002878.4(RAD51D):c.693_726del (p.Arg232fs) rs1597858243
NM_002878.4(RAD51D):c.694_715delinsTGAGAGCTGAAGACCCTGGCCT (p.Arg232_Arg239delinsTer)
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter) rs1555567197
NM_002878.4(RAD51D):c.746del (p.Asn249fs) rs2091536198
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
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_002880.4(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002887.4(RARS1):c.1443_1446del (p.Arg482fs) rs1057518618
NM_002887.4(RARS1):c.2T>C (p.Met1Thr) rs769713780
NM_002890.3(RASA1):c.1926dup (p.Val643fs) rs2112485022
NM_002890.3(RASA1):c.1963_1967del (p.Glu655fs)
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2184+1G>T rs1761341362
NM_002890.3(RASA1):c.2291dup (p.Leu765fs)
NM_002890.3(RASA1):c.2552dup (p.Leu852fs)
NM_002890.3(RASA1):c.2598dup (p.Pro867fs)
NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)
NM_002971.6(SATB1):c.1237dup (p.Glu413fs)
NM_002971.6(SATB1):c.804_806delinsGGGA (p.Asn268fs)
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs) rs398123690
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter) rs1060503762
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs) rs1570958038
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.17_42dup (p.Ala15delinsProSerProTer) rs1553179337
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter) rs760169139
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
NM_003000.3(SDHB):c.18_22delinsACCG (p.Leu7fs)
NM_003000.3(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.3(SDHB):c.201-2A>C rs878854574
NM_003000.3(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.3(SDHB):c.21del (p.Ser8fs) rs1553179359
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter) rs786203800
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.286+2T>A rs587781270
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.3(SDHB):c.330_333dup (p.Ala112fs) rs794728948
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter) rs786203506
NM_003000.3(SDHB):c.379dup (p.Ile127fs) rs1553177741
NM_003000.3(SDHB):c.384C>A (p.Tyr128Ter)
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.412del (p.Asp138fs) rs2101522958
NM_003000.3(SDHB):c.424-1G>A rs1131691060
NM_003000.3(SDHB):c.442del (p.Ala148fs) rs876659491
NM_003000.3(SDHB):c.444_445delinsTCTATGG (p.Gln149fs)
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer) rs2077999823
NM_003000.3(SDHB):c.481del (p.Asp161fs) rs794728949
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter) rs1553177677
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
NM_003000.3(SDHB):c.523del (p.Glu175fs)
NM_003000.3(SDHB):c.526G>T (p.Glu176Ter) rs794728946
NM_003000.3(SDHB):c.537dup (p.Leu180fs) rs1553177669
NM_003000.3(SDHB):c.541-1G>T rs1570945961
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter) rs1045881797
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.595_604delinsGG (p.Tyr199fs) rs1131691059
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter) rs1060503759
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs) rs1131691050
NM_003000.3(SDHB):c.605dup (p.Asn202fs) rs1131691053
NM_003000.3(SDHB):c.607_616del (p.Gly203fs) rs587782617
NM_003000.3(SDHB):c.636dup (p.Met213fs)
NM_003000.3(SDHB):c.639del (p.Met213fs) rs1131691047
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.642+1G>C rs1131691052
NM_003000.3(SDHB):c.642_642+6del rs876660368
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter) rs916516745
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
NM_003000.3(SDHB):c.680del (p.Thr227fs)
NM_003000.3(SDHB):c.683_684del (p.Glu228fs) rs762812025
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
NM_003000.3(SDHB):c.687dup (p.Arg230fs)
NM_003000.3(SDHB):c.688dup (p.Arg230fs) rs1570944890
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.3(SDHB):c.68del (p.Leu23fs)
NM_003000.3(SDHB):c.713del (p.Phe238fs) rs876660642
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003000.3(SDHB):c.717dup (p.Leu240fs) rs1060503764
NM_003000.3(SDHB):c.718_721del (p.Leu240fs) rs794728950
NM_003000.3(SDHB):c.71dup (p.Ala25fs) rs1131691057
NM_003000.3(SDHB):c.72+1G>A rs587782703
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.727T>C (p.Cys243Arg)
NM_003000.3(SDHB):c.757_760dup (p.Pro254fs)
NM_003000.3(SDHB):c.88del (p.Gln30fs) rs747198089
NM_003001.5(SDHC):c.118del (p.Arg40fs)
NM_003001.5(SDHC):c.183G>A (p.Trp61Ter)
NM_003001.5(SDHC):c.1A>T (p.Met1Leu) rs755235380
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
NM_003001.5(SDHC):c.215G>T (p.Arg72Leu) rs778582853
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.233dup (p.Leu78fs) rs1571869304
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.250_253del (p.Phe85fs) rs1571889991
NM_003001.5(SDHC):c.354dup (p.Ala119fs)
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.376dup (p.Tyr126fs) rs876658301
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.379C>T (p.His127Tyr) rs1485675090
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) rs981049067
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.448C>T (p.Gln150Ter)
NM_003001.5(SDHC):c.6del (p.Ala3fs) rs786205146
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.77+1G>C
NM_003001.5(SDHC):c.77+2dup rs766486676
NM_003001.5(SDHC):c.97_98dup (p.Ala34fs)
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.124G>T (p.Glu42Ter)
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.135_160del (p.Val46fs) rs1592778958
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) rs587782210
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.173del (p.Gly58fs) rs878854590
NM_003002.4(SDHD):c.191_192del (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.25_36delinsAACC (p.Ala9fs)
NM_003002.4(SDHD):c.266_267dup (p.Ala90fs)
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003002.4(SDHD):c.286del (p.Ala96fs)
NM_003002.4(SDHD):c.289_302del (p.Ala97fs)
NM_003002.4(SDHD):c.298_301del (p.Thr100fs) rs786203067
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr) rs786202403
NM_003002.4(SDHD):c.305A>G (p.His102Arg) rs104894302
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.314+1G>C
NM_003002.4(SDHD):c.314+1G>T rs1555187083
NM_003002.4(SDHD):c.314+3A>C rs1555187084
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) rs1060503769
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) rs1060503770
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.340T>G (p.Tyr114Asp) rs876659276
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.352del (p.Asp118fs) rs1131691064
NM_003002.4(SDHD):c.364A>T (p.Lys122Ter)
NM_003002.4(SDHD):c.381del (p.Leu128fs) rs1555187601
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs) rs864321644
NM_003002.4(SDHD):c.388dup (p.Ala130fs) rs1131691063
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.3G>A (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.445_448dup (p.Cys150fs) rs2135277783
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter) rs1314133983
NM_003002.4(SDHD):c.52+1G>A rs1592777386
NM_003002.4(SDHD):c.52+1_52+2delinsAA
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.69del (p.Pro24fs)
NM_003002.4(SDHD):c.90_96del (p.His30fs)
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003011.4(SET):c.452del (p.Pro151fs)
NM_003011.4(SET):c.599del (p.Gly200fs)
NM_003024.3(ITSN1):c.1909C>T (p.Arg637Ter)
NM_003024.3(ITSN1):c.2895C>G (p.Tyr965Ter)
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>C (p.Gly34Arg)
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_003042.4(SLC6A1):c.1104C>G (p.Tyr368Ter)
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
NM_003042.4(SLC6A1):c.1595G>A (p.Trp532Ter) rs1559640454
NM_003042.4(SLC6A1):c.197del (p.Asn66fs) rs1697197599
NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.850-2A>G rs1553689664
NM_003054.4(SLC18A2):c.835_836delAG rs1431337923
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3593T>G (p.Val1198Gly) rs1554629007
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003072.5(SMARCA4):c.1183del (p.Asp395fs)
NM_003072.5(SMARCA4):c.1189C>T (p.Arg397Ter) rs1295192121
NM_003072.5(SMARCA4):c.1279del (p.Asp427fs)
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs) rs2145938835
NM_003072.5(SMARCA4):c.1489dup (p.Ile497fs) rs1600068013
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
NM_003072.5(SMARCA4):c.1645del (p.Arg549fs)
NM_003072.5(SMARCA4):c.1666C>T (p.Gln556Ter) rs1555763642
NM_003072.5(SMARCA4):c.1717del (p.Ala573fs)
NM_003072.5(SMARCA4):c.1823del (p.Glu608fs)
NM_003072.5(SMARCA4):c.1892dup (p.Asp632fs)
NM_003072.5(SMARCA4):c.1911dup (p.Gln638fs)
NM_003072.5(SMARCA4):c.1940dup (p.Tyr649fs)
NM_003072.5(SMARCA4):c.1996G>T (p.Glu666Ter)
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter) rs1555771571
NM_003072.5(SMARCA4):c.2078del (p.Pro693fs)
NM_003072.5(SMARCA4):c.2147_2154dup (p.Gly719fs)
NM_003072.5(SMARCA4):c.2221_2224del (p.Arg741fs)
NM_003072.5(SMARCA4):c.2236_2239del (p.Ser746fs)
NM_003072.5(SMARCA4):c.2348T>C (p.Leu783Pro) rs869312964
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2817del (p.Phe939fs)
NM_003072.5(SMARCA4):c.2832del (p.Asn944fs)
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs) rs2146423140
NM_003072.5(SMARCA4):c.2854_2855delinsC (p.Glu952fs)
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) rs769308802
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3000del (p.Met1000fs) rs1600300837
NM_003072.5(SMARCA4):c.300del (p.Gly102fs) rs1599941421
NM_003072.5(SMARCA4):c.3010C>T (p.Gln1004Ter)
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter) rs2146473376
NM_003072.5(SMARCA4):c.3150C>A (p.Tyr1050Ter)
NM_003072.5(SMARCA4):c.3168+2T>C rs1489795776
NM_003072.5(SMARCA4):c.3213del (p.Leu1073fs)
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003072.5(SMARCA4):c.3311_3318del (p.Gln1104fs)
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3496C>T (p.Gln1166Ter) rs1600365455
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter) rs1600389034
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter) rs2146678594
NM_003072.5(SMARCA4):c.4004del (p.Pro1335fs)
NM_003072.5(SMARCA4):c.4038G>A (p.Trp1346Ter)
NM_003072.5(SMARCA4):c.4126dup (p.Glu1376fs)
NM_003072.5(SMARCA4):c.4153del (p.Glu1385fs) rs1600407324
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter) rs878854224
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter) rs758517117
NM_003072.5(SMARCA4):c.4477G>T (p.Glu1493Ter)
NM_003072.5(SMARCA4):c.4494C>G (p.Tyr1498Ter)
NM_003072.5(SMARCA4):c.4579A>T (p.Lys1527Ter)
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs) rs797045987
NM_003072.5(SMARCA4):c.478del (p.Gln160fs)
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter) rs2145775805
NM_003072.5(SMARCA4):c.574del (p.Arg192fs) rs2145779070
NM_003072.5(SMARCA4):c.695del (p.Pro232fs)
NM_003072.5(SMARCA4):c.747C>A (p.Tyr249Ter)
NM_003072.5(SMARCA4):c.788del (p.Pro263fs)
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
NM_003072.5(SMARCA4):c.826_827del (p.Pro276fs)
NM_003072.5(SMARCA4):c.885del (p.Thr296fs)
NM_003072.5(SMARCA4):c.947del (p.Pro316fs)
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.1039del (p.Asp347fs)
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter) rs1928400256
NM_003073.5(SMARCB1):c.178_179del (p.Arg60fs) rs1555875915
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) rs2145978723
NM_003074.4(SMARCC1):c.430C>T (p.Arg144Ter)
NM_003079.5(SMARCE1):c.248_249del (p.Gln83fs)
NM_003079.5(SMARCE1):c.275dup (p.Leu93fs)
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter) rs2143997316
NM_003079.5(SMARCE1):c.370del (p.Lys123_Ile124insTer)
NM_003079.5(SMARCE1):c.411del (p.Ala138fs)
NM_003079.5(SMARCE1):c.417C>G (p.Tyr139Ter) rs1555605752
NM_003079.5(SMARCE1):c.439del (p.Ser147fs)
NM_003079.5(SMARCE1):c.439dup (p.Ser147fs)
NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter) rs1251821702
NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
NM_003079.5(SMARCE1):c.601del (p.Arg201fs)
NM_003079.5(SMARCE1):c.632_633dup (p.Val212fs)
NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003079.5(SMARCE1):c.748del (p.Glu250fs)
NM_003079.5(SMARCE1):c.781G>T (p.Glu261Ter)
NM_003079.5(SMARCE1):c.816+1G>T
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.70_86del (p.Asn24fs) rs1553862927
NM_003108.4(SOX11):c.1164_1176del (p.Asn389fs) rs1553328057
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter) rs1553327954
NM_003114.5(SPAG1):c.1285_1294del (p.Gly429fs)
NM_003118.4(SPARC):c.373_383del (p.Phe125fs)
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.347C>A (p.Ser116Ter) rs149474131
NM_003124.5(SPR):c.587A>G (p.Tyr196Cys) rs1670577739
NM_003128.3(SPTBN1):c.3523del (p.Leu1175fs)
NM_003128.3(SPTBN1):c.4341_4344del (p.Ser1447fs)
NM_003128.3(SPTBN1):c.5730_5731del (p.Asp1912fs)
NM_003128.3(SPTBN1):c.968_969insA (p.Ile324fs)
NM_003130.4(SRI):c.206-1G>A rs869312940
NM_003172.4(SURF1):c.240G>C (p.Gln80His) rs1554768709
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003185.4(TAF4):c.1519C>T (p.Gln507Ter)
NM_003185.4(TAF4):c.2719C>T (p.Gln907Ter)
NM_003193.5(TBCE):c.653G>A (p.Trp218Ter)
NM_003221.4(TFAP2B):c.219dup (p.Tyr74fs)
NM_003221.4(TFAP2B):c.601+1G>A
NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter) rs1553303357
NM_003238.6(TGFB2):c.194dup (p.Glu66fs) rs2102527595
NM_003238.6(TGFB2):c.229_245del (p.Leu77fs) rs1553292105
NM_003238.6(TGFB2):c.280del (p.Ser94fs) rs1553292123
NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)
NM_003238.6(TGFB2):c.375_378del (p.Tyr126fs)
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.41_42insTATCT (p.Val15fs)
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs) rs1064796256
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.337_344delinsTAAGAATTT (p.Gly113_Ala115delinsTer)
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.971_972delinsACATTGACTACAT (p.Phe324fs)
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val) rs886038847
NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) rs886039106
NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala) rs886038787
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) rs886038794
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003336.4(UBE2A):c.108G>A (p.Trp36Ter) rs2053404449
NM_003359.4(UGDH):c.1270del (p.Asp424fs)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003403.5(YY1):c.468_483del (p.Gly157fs) rs1890695996
NM_003470.3(USP7):c.845C>G (p.Ser282Ter)
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) rs104894204
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs) rs1336937886
NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs) rs1555188623
NM_003482.4(KMT2D):c.11722C>T (p.Gln3908Ter)
NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) rs2120437427
NM_003482.4(KMT2D):c.11938C>T (p.Gln3980Ter)
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.12414dup (p.Val4139fs) rs1942959186
NM_003482.4(KMT2D):c.12466del (p.Gln4156fs)
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs) rs1555187440
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs) rs1555186842
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15858_15859del (p.Tyr5287fs)
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16022C>G (p.Ser5341Ter)
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) rs2137706560
NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs) rs1555184787
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4941del (p.Asp1648fs) rs1555194443
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5775del (p.Leu1926fs) rs1943599403
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.778del (p.Ala259_Leu260insTer) rs1938214848
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs) rs1943282614
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.440T>C (p.Met147Thr) rs1057518605
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003560.4(PLA2G6):c.1019_1025del (p.Gly340fs) rs797044903
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.2166del (p.Phe722fs)
NM_003560.4(PLA2G6):c.533_536del (p.Gln178fs) rs2089023572
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer) rs1553521389
NM_003590.5(CUL3):c.1358del (p.Asn453fs)
NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter) rs1553602498
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs)
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.2076del (p.Phe692fs) rs1555907034
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_003611.3(OFD1):c.393del (p.Asp132fs)
NM_003611.3(OFD1):c.655-2A>G rs1569122408
NM_003611.3(OFD1):c.935+1G>T
NM_003620.4(PPM1D):c.1210C>T (p.Gln404Ter) rs768126695
NM_003620.4(PPM1D):c.1213G>T (p.Glu405Ter) rs2031447940
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1269_1270del (p.Glu424fs) rs2031551420
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.2521dup (p.Thr841fs)
NM_003640.5(ELP1):c.2624_2625del (p.Glu875fs)
NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)
NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.836del (p.Thr279fs)
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003673.4(TCAP):c.25G>T (p.Glu9Ter)
NM_003680.4(YARS1):c.112del (p.Ile38fs) rs771840678
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer) rs764028295
NM_003680.4(YARS1):c.159del (p.Phe53fs)
NM_003680.4(YARS1):c.835C>T (p.Arg279Ter) rs767579114
NM_003705.5(SLC25A12):c.249_255del (p.Cys85fs)
NM_003709.4(KLF7):c.410C>T (p.Thr137Met) rs1276619385
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.1228C>T (p.Arg410Ter)
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.1959del (p.Glu654fs)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003718.5(CDK13):c.527dup (p.Ser177fs)
NM_003718.5(CDK13):c.901del (p.Arg301fs)
NM_003719.5(PDE8B):c.328_329del (p.Thr110fs)
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter)
NM_003742.4(ABCB11):c.3213+1del rs1553546495
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003865.3(HESX1):c.254C>A (p.Ser85Ter)
NM_003906.5(MCM3AP):c.2936_2937del (p.Pro979fs)
NM_003906.5(MCM3AP):c.3228dup (p.Asp1077Ter)
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003922.4(HERC1):c.5164C>T (p.Gln1722Ter)
NM_003922.4(HERC1):c.681del (p.Gly231fs) rs2076073941
NM_003922.4(HERC1):c.7771C>T (p.Arg2591Ter)
NM_003924.4(PHOX2B):c.13G>T (p.Glu5Ter) rs2153113084
NM_003924.4(PHOX2B):c.153dup (p.Gly52fs)
NM_003924.4(PHOX2B):c.196del (p.Ser66fs)
NM_003924.4(PHOX2B):c.234C>A (p.Tyr78Ter)
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter) rs73810366
NM_003924.4(PHOX2B):c.242-1G>A
NM_003924.4(PHOX2B):c.249C>A (p.Tyr83Ter)
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter) rs1733947320
NM_003924.4(PHOX2B):c.391del (p.Leu131fs)
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln) rs1733941453
NM_003924.4(PHOX2B):c.428A>G (p.Gln143Arg)
NM_003924.4(PHOX2B):c.428dup (p.Val144fs)
NM_003924.4(PHOX2B):c.466C>T (p.Gln156Ter)
NM_003924.4(PHOX2B):c.547G>T (p.Glu183Ter)
NM_003924.4(PHOX2B):c.577del (p.Asp193fs)
NM_003924.4(PHOX2B):c.652_683del (p.Pro218fs)
NM_003924.4(PHOX2B):c.676del (p.Ala226fs)
NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs) rs2153112779
NM_003924.4(PHOX2B):c.702_714dup (p.Gly239fs)
NM_003924.4(PHOX2B):c.722_759dup (p.Ala254fs)
NM_003924.4(PHOX2B):c.726_743dup (p.Ala255_Ala260dup) rs1733881278
NM_003924.4(PHOX2B):c.726_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.729_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.732_746dup (p.Ala260_Gly261insAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.735_746dup (p.Ala260_Gly261insAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.735_767dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.738_767dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup) rs757020181
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup) rs775006915
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_003924.4(PHOX2B):c.741_761dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.747_773dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003924.4(PHOX2B):c.776_777insGGCGGCCGCGGCAGCGGCGGC (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla)
NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs)
NM_003924.4(PHOX2B):c.931_935del (p.Ser311fs)
NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp) rs1553897738
NM_003977.4(AIP):c.200dup (p.Phe68fs)
NM_003977.4(AIP):c.219G>A (p.Trp73Ter)
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.338_341dup (p.Leu115fs)
NM_003977.4(AIP):c.356_371del (p.Arg119fs)
NM_003977.4(AIP):c.361_362del (p.Cys121fs)
NM_003977.4(AIP):c.376C>T (p.Gln126Ter)
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.504G>A (p.Trp168Ter) rs2134254613
NM_003977.4(AIP):c.606C>G (p.Tyr202Ter)
NM_003977.4(AIP):c.643A>T (p.Lys215Ter) rs1591046113
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.756_762dup (p.Ser255fs)
NM_003977.4(AIP):c.783C>G (p.Tyr261Ter)
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter) rs1064793964
NM_004006.3(DMD):c.31+1G>C rs398123923
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.313A>T (p.Lys105Ter) rs2148850223
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter) rs1569563751
NM_004006.3(DMD):c.357+1G>T
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter) rs1057520764
NM_004006.3(DMD):c.6306del (p.Val2103fs)
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter) rs1557038061
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004006.3(DMD):c.7552del (p.Gln2518fs) rs398124049
NM_004006.3(DMD):c.777del (p.Lys259_Val260insTer)
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter) rs2147076500
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp) rs886041303
NM_004064.5(CDKN1B):c.106del (p.Val36fs)
NM_004064.5(CDKN1B):c.128delinsCA (p.Arg43fs)
NM_004064.5(CDKN1B):c.166_167del (p.Ser56fs)
NM_004064.5(CDKN1B):c.169C>T (p.Gln57Ter)
NM_004064.5(CDKN1B):c.178dup (p.Trp60fs) rs1592280877
NM_004064.5(CDKN1B):c.179G>A (p.Trp60Ter)
NM_004064.5(CDKN1B):c.180G>A (p.Trp60Ter)
NM_004064.5(CDKN1B):c.201_202del (p.His67fs)
NM_004064.5(CDKN1B):c.208del (p.Pro69_Leu70insTer)
NM_004064.5(CDKN1B):c.208dup (p.Leu70fs)
NM_004064.5(CDKN1B):c.211del (p.Glu71fs)
NM_004064.5(CDKN1B):c.215dup (p.Lys73fs) rs1555085549
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004064.5(CDKN1B):c.232del (p.Glu78fs)
NM_004064.5(CDKN1B):c.247_280del (p.Ser83fs)
NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs) rs1946493725
NM_004064.5(CDKN1B):c.285dup (p.Lys96fs) rs1555085575
NM_004064.5(CDKN1B):c.295_305dup (p.Gln104fs)
NM_004064.5(CDKN1B):c.310C>T (p.Gln104Ter) rs1592281087
NM_004064.5(CDKN1B):c.319C>T (p.Gln107Ter)
NM_004064.5(CDKN1B):c.320del (p.Gln107fs) rs755301027
NM_004064.5(CDKN1B):c.326del (p.Val109fs)
NM_004064.5(CDKN1B):c.333dup (p.Ser112fs)
NM_004064.5(CDKN1B):c.369dup (p.Asn124Ter)
NM_004064.5(CDKN1B):c.374_375del (p.Asn124_Ser125insTer) rs786201011
NM_004064.5(CDKN1B):c.388_392del (p.Leu130fs) rs2136356377
NM_004064.5(CDKN1B):c.389del (p.Leu130fs)
NM_004064.5(CDKN1B):c.410del (p.Pro137fs) rs1328655695
NM_004064.5(CDKN1B):c.421C>T (p.Gln141Ter) rs1946498768
NM_004064.5(CDKN1B):c.429del (p.Gly143_Leu144insTer)
NM_004064.5(CDKN1B):c.460C>T (p.Arg154Ter) rs1292160956
NM_004064.5(CDKN1B):c.487C>T (p.Gln163Ter) rs1202861028
NM_004064.5(CDKN1B):c.511G>T (p.Glu171Ter)
NM_004064.5(CDKN1B):c.514G>T (p.Glu172Ter)
NM_004064.5(CDKN1B):c.58C>T (p.Gln20Ter) rs1946487230
NM_004092.4(ECHS1):c.370dup (p.Thr124fs)
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004100.5(EYA4):c.279del (p.Met93fs)
NM_004100.5(EYA4):c.316del (p.Ser106fs) rs1554260888
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004168.4(SDHA):c.1054del (p.Arg352fs)
NM_004168.4(SDHA):c.10del (p.Val4fs)
NM_004168.4(SDHA):c.1111del (p.Leu371fs)
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) rs1735691933
NM_004168.4(SDHA):c.1192del (p.Glu398fs)
NM_004168.4(SDHA):c.1222_1225dup (p.Asn409delinsIleTer)
NM_004168.4(SDHA):c.1245dup (p.Asn416fs) rs2126585710
NM_004168.4(SDHA):c.1257del (p.Gln420fs)
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_004168.4(SDHA):c.1293del (p.Ile431fs)
NM_004168.4(SDHA):c.1344dup (p.Ala449fs)
NM_004168.4(SDHA):c.1357_1363del (p.Gly453fs)
NM_004168.4(SDHA):c.1388_1389del (p.Phe463fs)
NM_004168.4(SDHA):c.138del (p.Val47fs)
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) rs1064793567
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1589del (p.Ser530fs)
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) rs1554001843
NM_004168.4(SDHA):c.1629T>A (p.Tyr543Ter)
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1694_1695insTC (p.Leu566fs)
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter)
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1785delinsCTTCTGGCGCGCATGCCAGG (p.Glu595fs)
NM_004168.4(SDHA):c.1812C>G (p.Tyr604Ter)
NM_004168.4(SDHA):c.1831C>T (p.Gln611Ter)
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.186del (p.Phe62fs)
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.23C>A (p.Ser8Ter) rs878854631
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) rs2126542910
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter) rs1579381753
NM_004168.4(SDHA):c.29_50del (p.Leu10fs)
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.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) rs1423978863
NM_004168.4(SDHA):c.310_311del (p.Gln104fs)
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs) rs876658637
NM_004168.4(SDHA):c.343G>T (p.Glu115Ter)
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) rs1734957331
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
NM_004168.4(SDHA):c.3G>T (p.Met1Ile) rs2126522051
NM_004168.4(SDHA):c.403del (p.Asp135fs)
NM_004168.4(SDHA):c.424_443del (p.Met142fs)
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter) rs778737664
NM_004168.4(SDHA):c.457-2_457del rs878854632
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) rs1560980939
NM_004168.4(SDHA):c.470del (p.Gly157fs)
NM_004168.4(SDHA):c.484A>T (p.Arg162Ter) rs1579385526
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.526C>T (p.Gln176Ter) rs2126549741
NM_004168.4(SDHA):c.554dup (p.Ala186fs) rs1173940446
NM_004168.4(SDHA):c.558_567del (p.His187fs) rs1553997826
NM_004168.4(SDHA):c.5dup (p.Val4fs)
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) rs876658486
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) rs775143272
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter) rs1307665893
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004168.4(SDHA):c.66G>A (p.Trp22Ter)
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.691dup (p.Cys231fs) rs1579391225
NM_004168.4(SDHA):c.712_713del (p.Cys238fs)
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) rs1553998229
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.775del (p.Tyr259fs) rs1553998606
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.786del (p.Tyr263fs) rs1553998613
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter) rs1734829878
NM_004168.4(SDHA):c.827del (p.Gly276fs)
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter)
NM_004168.4(SDHA):c.868del (p.Asp289_Leu290insTer)
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
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_004168.4(SDHA):c.9_10dup (p.Val4fs)
NM_004187.5(KDM5C):c.147del (p.Ala50fs)
NM_004187.5(KDM5C):c.202C>T (p.Arg68Ter)
NM_004187.5(KDM5C):c.2275_2276dup (p.Met759fs)
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter) rs1556838661
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter) rs1556837420
NM_004187.5(KDM5C):c.2785C>T (p.Arg929Ter) rs782405999
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter) rs1556836399
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.3692del (p.Pro1231fs)
NM_004187.5(KDM5C):c.3835C>T (p.Gln1279Ter)
NM_004204.5(PIGQ):c.572G>A (p.Trp191Ter)
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs) rs1555565807
NM_004247.4(EFTUD2):c.1554del (p.Asp518fs) rs2050680680
NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs) rs1555564175
NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs) rs2050490408
NM_004247.4(EFTUD2):c.2562-1G>A rs1555564006
NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs) rs1555563998
NM_004260.4(RECQL4):c.792G>A (p.Trp264Ter) rs1554902811
NM_004268.5(MED17):c.98dup (p.Leu34fs) rs745733410
NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs) rs1554877731
NM_004281.4(BAG3):c.1131_1134del (p.Ser377fs)
NM_004281.4(BAG3):c.1181del (p.Glu394fs)
NM_004281.4(BAG3):c.1257del (p.Pro420fs)
NM_004281.4(BAG3):c.1259del (p.Pro420fs)
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) rs794728981
NM_004281.4(BAG3):c.1276del (p.Glu426fs)
NM_004281.4(BAG3):c.1292dup (p.Val432fs) rs886039182
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.138_159del (p.Thr47fs)
NM_004281.4(BAG3):c.223del (p.Arg75fs)
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) rs1564773559
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.29_35del (p.Met10fs)
NM_004281.4(BAG3):c.394C>T (p.Gln132Ter)
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) rs1847126002
NM_004281.4(BAG3):c.481C>T (p.Gln161Ter) rs886039044
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.764G>A (p.Trp255Ter)
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) rs1564774668
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.341_342del (p.Asp113_Ser114insTer)
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs) rs1131691184
NM_004329.3(BMPR1A):c.1061del (p.Gly354fs) rs1554891089
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs) rs2133592586
NM_004329.3(BMPR1A):c.1095del (p.Ser365fs) rs1589291774
NM_004329.3(BMPR1A):c.1101del (p.Asn367fs) rs1554891102
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1131_1132delinsACCTGGAG (p.Cys377_Ile378delinsTer)
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1245_1246dup (p.Ser416fs) rs1554891331
NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter) rs2133607319
NM_004329.3(BMPR1A):c.1267C>T (p.Gln423Ter)
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) rs2133395056
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1304del (p.Leu435fs)
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
NM_004329.3(BMPR1A):c.1346_1359delinsAGAATACCCT (p.Ile449fs)
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter) rs149787558
NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter) rs1131691175
NM_004329.3(BMPR1A):c.1461G>A (p.Trp487Ter) rs2133622305
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter) rs1392086533
NM_004329.3(BMPR1A):c.160del (p.Asp54fs) rs1131691183
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer) rs786201038
NM_004329.3(BMPR1A):c.199_203dup (p.Asp69fs) rs1554888134
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu) rs786203157
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter) rs786201501
NM_004329.3(BMPR1A):c.246C>A (p.Cys82Ter) rs759647230
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.3(BMPR1A):c.271C>T (p.Gln91Ter) rs878854667
NM_004329.3(BMPR1A):c.275dup (p.Glu93fs)
NM_004329.3(BMPR1A):c.300T>A (p.Cys100Ter)
NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter) rs876658891
NM_004329.3(BMPR1A):c.325del (p.Gln109fs) rs1554888329
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)
NM_004329.3(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.3(BMPR1A):c.364del (p.Thr121_Ile122insTer)
NM_004329.3(BMPR1A):c.367del (p.Glu123fs) rs1131691173
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr) rs587782388
NM_004329.3(BMPR1A):c.373T>G (p.Cys125Gly) rs1131691180
NM_004329.3(BMPR1A):c.388T>C (p.Cys130Arg) rs1131691168
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter) rs2133454296
NM_004329.3(BMPR1A):c.3G>A (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.3(BMPR1A):c.419_420del (p.Pro140fs)
NM_004329.3(BMPR1A):c.420del (p.Val141fs) rs786201715
NM_004329.3(BMPR1A):c.430+1G>A rs1843283551
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter) rs1131691178
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter) rs1131691176
NM_004329.3(BMPR1A):c.481del (p.Ala161fs) rs1131691172
NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)
NM_004329.3(BMPR1A):c.534_535insAAAT (p.Tyr179fs)
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter) rs1564721929
NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.3(BMPR1A):c.586_592del (p.Asp196fs)
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.3(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.3(BMPR1A):c.676-1G>A rs1554890734
NM_004329.3(BMPR1A):c.68-1G>A rs1131691174
NM_004329.3(BMPR1A):c.68-1G>C rs1131691174
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.3(BMPR1A):c.699_700del (p.Gln233fs)
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
NM_004329.3(BMPR1A):c.793dup (p.Thr265fs)
NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.3(BMPR1A):c.824_825del (p.Thr275fs) rs1589290779
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.874dup (p.Ile292fs) rs1554891016
NM_004329.3(BMPR1A):c.880del (p.Ala294fs)
NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer) rs876659988
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter) rs1589291548
NM_004329.3(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs) rs1060503409
NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer) rs1554891044
NM_004329.3(BMPR1A):c.964A>T (p.Lys322Ter) rs1131691167
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs) rs1554891056
NM_004329.3(BMPR1A):c.989_992dup (p.Leu332fs)
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004360.3:c.691_697delTTCTCTC
NM_004360.5(CDH1):c.1003dup (p.Arg335fs)
NM_004360.5(CDH1):c.1008+1G>A rs1960844889
NM_004360.5(CDH1):c.1008G>A (p.Glu336=) rs267606712
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) rs267606712
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter) rs878854676
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys) rs876661091
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer) rs1555515731
NM_004360.5(CDH1):c.1064dup (p.Leu355fs) rs1555515731
NM_004360.5(CDH1):c.1085del (p.Val362fs) rs1555515739
NM_004360.5(CDH1):c.1107del (p.Asn369fs) rs1567507138
NM_004360.5(CDH1):c.1131del (p.Thr378fs) rs1131690812
NM_004360.5(CDH1):c.1132_1133del (p.Thr378fs)
NM_004360.5(CDH1):c.1137+1del rs876659446
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
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.1214_1221del (p.Asn405fs)
NM_004360.5(CDH1):c.1237_1238dup (p.Ile415fs) rs1131690811
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs) rs876658865
NM_004360.5(CDH1):c.1261G>T (p.Gly421Ter)
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1309A>T (p.Lys437Ter)
NM_004360.5(CDH1):c.1341del (p.Lys447fs) rs1555516089
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1373del (p.Asn458fs) rs1960960044
NM_004360.5(CDH1):c.1380del (p.Pro461fs) rs1567508847
NM_004360.5(CDH1):c.1386dup (p.Glu463Ter)
NM_004360.5(CDH1):c.1390del (p.Val464fs) rs1555516111
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs) rs1597897893
NM_004360.5(CDH1):c.1401dup (p.Thr468fs)
NM_004360.5(CDH1):c.1408del (p.Thr470fs) rs1131690821
NM_004360.5(CDH1):c.140_155delinsCGA (p.Glu47fs)
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs) rs1567508939
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.1500_1501delinsA (p.Val501fs)
NM_004360.5(CDH1):c.1505del (p.Gly502fs) rs869312765
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter) rs1131690810
NM_004360.5(CDH1):c.1562del (p.Ile521fs)
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565+1G>C rs587780113
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.1565+2dup rs1555516200
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.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter) rs1596960368
NM_004360.5(CDH1):c.1600G>T (p.Glu534Ter)
NM_004360.5(CDH1):c.1605del (p.Asn536fs) rs1596960393
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val) rs863224726
NM_004360.5(CDH1):c.163+1G>A rs1962463097
NM_004360.5(CDH1):c.1636del (p.Ala546fs) rs1555516556
NM_004360.5(CDH1):c.1651G>T (p.Glu551Ter)
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs) rs1555516567
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1711+2_1711+7del rs786203089
NM_004360.5(CDH1):c.1711+5G>A rs1131690818
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
NM_004360.5(CDH1):c.1733dup (p.Gly579fs) rs1555516821
NM_004360.5(CDH1):c.1736_1737dup (p.Thr580fs)
NM_004360.5(CDH1):c.1746dup (p.Leu583fs) rs1131690817
NM_004360.5(CDH1):c.1779dup (p.Ile594fs) rs876661118
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.182_183delinsGTG (p.Thr61fs)
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs) rs2152138436
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter) rs587783047
NM_004360.5(CDH1):c.1893dup (p.His632fs) rs1596963827
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
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.1979dup (p.Gly661_Asp662insTer) rs730881653
NM_004360.5(CDH1):c.1982del (p.Gly661fs) rs1596965628
NM_004360.5(CDH1):c.1996_1999del (p.Asn666fs)
NM_004360.5(CDH1):c.1999del (p.Leu667fs) rs786202033
NM_004360.5(CDH1):c.1A>G (p.Met1Val) rs1555509622
NM_004360.5(CDH1):c.2029dup (p.Gln677fs) rs1555517100
NM_004360.5(CDH1):c.202del (p.Tyr68fs) rs786202151
NM_004360.5(CDH1):c.2045dup (p.Val683fs)
NM_004360.5(CDH1):c.2056_2059del (p.Cys686fs)
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2071dup (p.Ala691fs)
NM_004360.5(CDH1):c.2076_2094delinsCG (p.Gly693fs)
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter) rs149127230
NM_004360.5(CDH1):c.2155dup (p.Ala719fs)
NM_004360.5(CDH1):c.2165-1G>C rs1385720097
NM_004360.5(CDH1):c.217dup (p.Thr73fs) rs1597884637
NM_004360.5(CDH1):c.2186_2196del (p.Leu729fs) rs1596970676
NM_004360.5(CDH1):c.2188_2189delinsCTCCTCC (p.Phe730fs)
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.220del (p.Arg74fs)
NM_004360.5(CDH1):c.2262C>A (p.Tyr754Ter) rs1596970988
NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter) rs876658944
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
NM_004360.5(CDH1):c.2276del (p.Gly759fs) rs1555517680
NM_004360.5(CDH1):c.2284G>T (p.Glu762Ter)
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter) rs876658575
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2306T>A (p.Leu769Ter)
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter) rs1131690813
NM_004360.5(CDH1):c.2324del (p.Gly775fs) rs1060501248
NM_004360.5(CDH1):c.2329_2341del (p.Asp777fs)
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
NM_004360.5(CDH1):c.2386del (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2440-2A>G rs1555518210
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.25dup (p.Ser9fs)
NM_004360.5(CDH1):c.261del (p.Arg87fs) rs1555514429
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter) rs781409616
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.303C>A (p.Tyr101Ter)
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter) rs1555514464
NM_004360.5(CDH1):c.315del (p.Thr106fs) rs1064795703
NM_004360.5(CDH1):c.322del (p.Arg108fs)
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.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.454_457del (p.Gln152fs)
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.456del (p.Lys153fs)
NM_004360.5(CDH1):c.463_464del (p.Asp155fs)
NM_004360.5(CDH1):c.468G>A (p.Trp156Ter) rs876661107
NM_004360.5(CDH1):c.48+1G>A rs1440280370
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs) rs1555515217
NM_004360.5(CDH1):c.49-2A>C
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.498_502dup (p.Lys168fs)
NM_004360.5(CDH1):c.504del (p.Gly169fs) rs864622655
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.529C>T (p.Gln177Ter) rs1555515232
NM_004360.5(CDH1):c.531+1G>A rs1131690808
NM_004360.5(CDH1):c.552dup (p.Glu185fs) rs1597890963
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter) rs761753486
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
NM_004360.5(CDH1):c.576del (p.Thr193fs)
NM_004360.5(CDH1):c.594_595insT (p.Thr199fs) rs1555515264
NM_004360.5(CDH1):c.602del (p.Pro201fs)
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter) rs786203576
NM_004360.5(CDH1):c.617_623dup (p.Glu208delinsAspTyrTer)
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter) rs1962456814
NM_004360.5(CDH1):c.687+1G>A rs1567504977
NM_004360.5(CDH1):c.687+1G>C rs1567504977
NM_004360.5(CDH1):c.687+1_687+2del rs1555515296
NM_004360.5(CDH1):c.692del (p.Phe231fs)
NM_004360.5(CDH1):c.707C>G (p.Ser236Ter)
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) rs121964876
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819
NM_004360.5(CDH1):c.727G>T (p.Glu243Ter)
NM_004360.5(CDH1):c.757_832+3del
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter) rs786201058
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004360.5(CDH1):c.800_810del (p.Phe267fs) rs1960785108
NM_004360.5(CDH1):c.807del (p.Ser270fs)
NM_004360.5(CDH1):c.828dup (p.Pro277fs)
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.832+1G>T rs878854697
NM_004360.5(CDH1):c.833-1G>A rs1597893910
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
NM_004360.5(CDH1):c.883dup (p.Thr295fs)
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
NM_004360.5(CDH1):c.906C>A (p.Tyr302Ter)
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter) rs1131690820
NM_004360.5(CDH1):c.972dup (p.Val325fs) rs1597894239
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004380.3(CREBBP):c.1948T>C (p.Tyr650His)
NM_004380.3(CREBBP):c.3428del (p.Asp1143fs) rs1555478331
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3955C>T (p.Arg1319Ter) rs1555475250
NM_004380.3(CREBBP):c.3G>T (p.Met1Ile)
NM_004380.3(CREBBP):c.4348T>C (p.Tyr1450His) rs1555473499
NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg) rs797044860
NM_004380.3(CREBBP):c.4495C>G (p.Leu1499Val) rs2052070559
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.5129G>A (p.Cys1710Tyr) rs1555471813
NM_004380.3(CREBBP):c.5361C>A (p.Asn1787Lys) rs375462934
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)
NM_004380.3(CREBBP):c.6271A>T (p.Lys2091Ter)
NM_004380.3(CREBBP):c.90del (p.Phe30fs) rs1555496732
NM_004385.5(VCAN):c.4004-2A>G rs80356555
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) rs1554093461
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1190G>A (p.Gly397Asp) rs1554774708
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.713G>T (p.Ser238Ile) rs1554773487
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.2:c.6060_6061insALU
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1208_1226dup (p.Met409fs)
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
NM_004415.4(DSP):c.1232del (p.Leu411fs)
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
NM_004415.4(DSP):c.1590C>G (p.Tyr530Ter)
NM_004415.4(DSP):c.160del (p.Asp54fs)
NM_004415.4(DSP):c.1629del (p.Asn543fs)
NM_004415.4(DSP):c.1750G>T (p.Glu584Ter)
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1812del (p.Asp604fs)
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2421C>G (p.Tyr807Ter)
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter) rs1554107624
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.340del (p.Ala114fs)
NM_004415.4(DSP):c.3427C>T (p.Gln1143Ter)
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3612del (p.Ser1204fs)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
NM_004415.4(DSP):c.3710del (p.Asn1237fs)
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3905_3906dup (p.Ser1303fs)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.4184_4187del (p.Ile1395fs)
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs) rs1554108280
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs) rs886039009
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.5212_5213delinsTA (p.Arg1738Ter)
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
NM_004415.4(DSP):c.557_558del (p.His186fs)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs) rs1759527886
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6475dup (p.Tyr2159fs)
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7177_7178del (p.Lys2393fs)
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004429.5(EFNB1):c.142A>T (p.Lys48Ter) rs1556105875
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004444.5(EPHB4):c.1236_1237insGCCTCCTTAGCCACGGGGCA (p.Ser413fs)
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) rs1331371272
NM_004444.5(EPHB4):c.2397del (p.Ala800fs)
NM_004444.5(EPHB4):c.616C>T (p.Arg206Ter)
NM_004446.3(EPRS1):c.4150C>T (p.Arg1384Ter)
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004463.3(FGD1):c.1076del (p.Leu359fs)
NM_004463.3(FGD1):c.1636+1G>A rs1569541211
NM_004463.3(FGD1):c.26dup (p.Ala10fs) rs1557191602
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.710del (p.Gly237fs)
NM_004463.3(FGD1):c.997C>T (p.Gln333Ter) rs1557189592
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004523.4(KIF11):c.2697_2700del (p.Asn899fs) rs1554863044
NM_004525.3(LRP2):c.7401del (p.Ala2468fs)
NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs)
NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter) rs1555928716
NM_004586.3(RPS6KA3):c.1612del (p.Arg538fs) rs2067399344
NM_004586.3(RPS6KA3):c.1672C>T (p.Arg558Ter)
NM_004586.3(RPS6KA3):c.1699C>T (p.Gln567Ter) rs1555927554
NM_004586.3(RPS6KA3):c.1859del (p.Asn620fs)
NM_004586.3(RPS6KA3):c.1970C>G (p.Ser657Ter) rs2067184984
NM_004586.3(RPS6KA3):c.266del (p.Ile88_Ser89insTer)
NM_004586.3(RPS6KA3):c.486G>A (p.Glu162=) rs2068213764
NM_004586.3(RPS6KA3):c.712G>T (p.Glu238Ter) rs1555939377
NM_004586.3(RPS6KA3):c.731_739delinsT (p.Gly244fs)
NM_004586.3(RPS6KA3):c.774+1G>A rs1555939331
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004608.4(TBX6):c.699G>A (p.Trp233Ter)
NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs) rs886038954
NM_004612.4(TGFBR1):c.1395_1396dup (p.Val466fs)
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) rs1554698926
NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) rs1554700603
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) rs886038783
NM_004612.4(TGFBR1):c.947_952delinsC (p.Leu316fs)
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004618.5(TOP3A):c.1012C>T (p.Arg338Ter)
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs) rs1420623853
NM_004655.4(AXIN2):c.1032del (p.Asn344fs)
NM_004655.4(AXIN2):c.1159del (p.Ser387fs)
NM_004655.4(AXIN2):c.1195del (p.Arg399fs) rs2144475594
NM_004655.4(AXIN2):c.1274dup (p.Leu426fs)
NM_004655.4(AXIN2):c.1306C>T (p.Gln436Ter)
NM_004655.4(AXIN2):c.1380_1381dup (p.Ser461fs)
NM_004655.4(AXIN2):c.1431C>A (p.Tyr477Ter)
NM_004655.4(AXIN2):c.1466_1478del (p.Pro489fs)
NM_004655.4(AXIN2):c.1474_1492del (p.Ala492fs)
NM_004655.4(AXIN2):c.1565dup (p.His522fs)
NM_004655.4(AXIN2):c.1637del (p.Gly546fs) rs1555577625
NM_004655.4(AXIN2):c.1642G>T (p.Glu548Ter) rs367624903
NM_004655.4(AXIN2):c.1705C>T (p.Gln569Ter) rs2144455707
NM_004655.4(AXIN2):c.1722dup (p.Gly575fs)
NM_004655.4(AXIN2):c.1724dup (p.Ser576fs)
NM_004655.4(AXIN2):c.1740_1761dup (p.Pro588fs)
NM_004655.4(AXIN2):c.1819C>T (p.Gln607Ter)
NM_004655.4(AXIN2):c.1822del (p.Leu608fs) rs1567754914
NM_004655.4(AXIN2):c.1831G>T (p.Glu611Ter) rs2043933208
NM_004655.4(AXIN2):c.1838_1848dup (p.Gln617fs)
NM_004655.4(AXIN2):c.183_193del (p.Leu62fs)
NM_004655.4(AXIN2):c.1873G>T (p.Glu625Ter)
NM_004655.4(AXIN2):c.1879G>T (p.Glu627Ter)
NM_004655.4(AXIN2):c.1912C>T (p.Gln638Ter) rs1598097196
NM_004655.4(AXIN2):c.1925del (p.Lys642fs)
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter) rs121908568
NM_004655.4(AXIN2):c.1989G>A (p.Trp663Ter) rs730882193
NM_004655.4(AXIN2):c.1993_1994delinsT (p.Gly665fs)
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.1994dup (p.Asn666fs) rs267606674
NM_004655.4(AXIN2):c.2009_2016del (p.Pro670fs)
NM_004655.4(AXIN2):c.2018_2025dup (p.Ala676fs)
NM_004655.4(AXIN2):c.2023del (p.Arg675fs)
NM_004655.4(AXIN2):c.2023dup (p.Arg675fs) rs1555577121
NM_004655.4(AXIN2):c.2052del (p.Met685fs) rs2144440894
NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter) rs2043913790
NM_004655.4(AXIN2):c.2142-1_2144dup
NM_004655.4(AXIN2):c.2161_2171del (p.Gln721fs)
NM_004655.4(AXIN2):c.2202del (p.Thr735fs)
NM_004655.4(AXIN2):c.2231del (p.Pro744fs)
NM_004655.4(AXIN2):c.2327del (p.Pro776fs)
NM_004655.4(AXIN2):c.254del (p.Leu85fs)
NM_004655.4(AXIN2):c.284del (p.Phe95fs)
NM_004655.4(AXIN2):c.313del (p.Val105fs)
NM_004655.4(AXIN2):c.323dup (p.Leu108fs)
NM_004655.4(AXIN2):c.332G>A (p.Trp111Ter)
NM_004655.4(AXIN2):c.355C>T (p.Gln119Ter) rs1598119841
NM_004655.4(AXIN2):c.479del (p.Gly160fs)
NM_004655.4(AXIN2):c.490C>T (p.Gln164Ter)
NM_004655.4(AXIN2):c.611del (p.Gly204fs)
NM_004655.4(AXIN2):c.702G>A (p.Trp234Ter)
NM_004655.4(AXIN2):c.730del (p.Ser244fs)
NM_004655.4(AXIN2):c.74del (p.Pro25fs)
NM_004655.4(AXIN2):c.763_764del (p.Leu255fs) rs1598118962
NM_004655.4(AXIN2):c.801dup (p.Asp268Ter) rs2144581824
NM_004656.2:c.376_377delAG
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter) rs869312757
NM_004656.4(BAP1):c.1088del (p.Asn363fs)
NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter) rs1553645164
NM_004656.4(BAP1):c.1169dup (p.Pro391fs) rs1578222261
NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter) rs1553645146
NM_004656.4(BAP1):c.1177C>T (p.Gln393Ter)
NM_004656.4(BAP1):c.1182C>G (p.Tyr394Ter) rs1364087255
NM_004656.4(BAP1):c.1184C>G (p.Ser395Ter)
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1203dup (p.Glu402Ter) rs1553645126
NM_004656.4(BAP1):c.122+1G>A rs1578230334
NM_004656.4(BAP1):c.1228C>T (p.Gln410Ter)
NM_004656.4(BAP1):c.1269_1270del (p.Gly424fs)
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter) rs1559587104
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs) rs1351986946
NM_004656.4(BAP1):c.1359dup (p.Glu454fs)
NM_004656.4(BAP1):c.1379C>A (p.Ser460Ter) rs1553644949
NM_004656.4(BAP1):c.1437del (p.Thr480fs) rs869160449
NM_004656.4(BAP1):c.1442_1443del (p.His481fs)
NM_004656.4(BAP1):c.1452del (p.Ser485fs)
NM_004656.4(BAP1):c.1464del (p.Ser489fs) rs1553644922
NM_004656.4(BAP1):c.1474_1475del (p.Ser492fs) rs1559586782
NM_004656.4(BAP1):c.1483dup (p.Thr495fs)
NM_004656.4(BAP1):c.14G>A (p.Trp5Ter)
NM_004656.4(BAP1):c.1508dup (p.Asn504fs)
NM_004656.4(BAP1):c.1513_1514del (p.Ser505fs) rs1578220681
NM_004656.4(BAP1):c.1523del (p.Arg508fs)
NM_004656.4(BAP1):c.1526C>A (p.Ser509Ter)
NM_004656.4(BAP1):c.1587_1594delinsCACACCTCCCACA (p.Lys529fs) rs1578220452
NM_004656.4(BAP1):c.1596del (p.Phe532fs)
NM_004656.4(BAP1):c.1695dup (p.Glu566Ter) rs1553644815
NM_004656.4(BAP1):c.169del (p.Arg57fs)
NM_004656.4(BAP1):c.1709_1710insC (p.Ser571fs)
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.1729+1G>A rs1578220161
NM_004656.4(BAP1):c.1766_1767insTCAAT (p.Gly591fs)
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.1780_1781insT (p.Gly594fs)
NM_004656.4(BAP1):c.1786del (p.Ser596fs) rs2153226489
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.1801A>T (p.Lys601Ter)
NM_004656.4(BAP1):c.1835del (p.Lys612fs) rs1060503743
NM_004656.4(BAP1):c.185dup (p.Ser63fs)
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
NM_004656.4(BAP1):c.188_189del (p.Ser63fs)
NM_004656.4(BAP1):c.1916_1917del (p.Val639fs) rs2153226324
NM_004656.4(BAP1):c.1918G>T (p.Glu640Ter)
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter) rs1578219056
NM_004656.4(BAP1):c.1966_1967del (p.Lys656fs)
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.238_239del (p.Met80fs) rs1705235390
NM_004656.4(BAP1):c.258_262del (p.Ile87fs)
NM_004656.4(BAP1):c.261dup (p.Pro88fs) rs1578227605
NM_004656.4(BAP1):c.293del (p.Ser98fs)
NM_004656.4(BAP1):c.2T>C (p.Met1Thr) rs1467015377
NM_004656.4(BAP1):c.320del (p.Asp107fs) rs1578227520
NM_004656.4(BAP1):c.325G>T (p.Gly109Ter)
NM_004656.4(BAP1):c.334_335del (p.Leu112fs)
NM_004656.4(BAP1):c.359dup (p.Ser123fs)
NM_004656.4(BAP1):c.406G>T (p.Glu136Ter)
NM_004656.4(BAP1):c.422del (p.His141fs)
NM_004656.4(BAP1):c.436dup (p.Arg146fs) rs2153227933
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.458del (p.Pro153fs)
NM_004656.4(BAP1):c.463A>T (p.Lys155Ter) rs1705196773
NM_004656.4(BAP1):c.50_53del (p.Leu17fs)
NM_004656.4(BAP1):c.510dup (p.Val171fs) rs1553645809
NM_004656.4(BAP1):c.517dup (p.Tyr173fs) rs1553645806
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys)
NM_004656.4(BAP1):c.519_520insA (p.Val174fs) rs1578226444
NM_004656.4(BAP1):c.542_543del (p.Leu180_Phe181insTer)
NM_004656.4(BAP1):c.587G>A (p.Trp196Ter) rs1553645725
NM_004656.4(BAP1):c.588G>A (p.Trp196Ter)
NM_004656.4(BAP1):c.58_59insTG (p.Glu20fs)
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.619del (p.Arg207fs) rs1578225864
NM_004656.4(BAP1):c.625dup (p.Val209fs)
NM_004656.4(BAP1):c.639dup (p.Ile214fs) rs1578225793
NM_004656.4(BAP1):c.644del (p.Gly215fs) rs1060503727
NM_004656.4(BAP1):c.65del (p.Phe22fs) rs1060503735
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.723T>G (p.Tyr241Ter)
NM_004656.4(BAP1):c.754_758dup (p.Gln253fs)
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) rs776240891
NM_004656.4(BAP1):c.758dup (p.Thr254fs) rs1553645591
NM_004656.4(BAP1):c.771_772insTACTA (p.Ala258delinsTyrTer) rs1553645586
NM_004656.4(BAP1):c.778C>T (p.Gln260Ter) rs864622592
NM_004656.4(BAP1):c.794_795dup (p.Thr266Ter)
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter) rs387906849
NM_004656.4(BAP1):c.799_800del (p.Gln267fs) rs2153227280
NM_004656.4(BAP1):c.79del (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.79dup (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.824del (p.Lys275fs) rs1559589252
NM_004656.4(BAP1):c.831dup (p.Glu278fs) rs1553645497
NM_004656.4(BAP1):c.833_834del (p.Glu278fs)
NM_004656.4(BAP1):c.837dup (p.Gln280fs) rs1553645492
NM_004656.4(BAP1):c.88del (p.Glu30fs)
NM_004656.4(BAP1):c.898_899del (p.Arg300fs) rs1578224341
NM_004656.4(BAP1):c.91del (p.Glu31fs) rs1553646294
NM_004656.4(BAP1):c.956C>G (p.Ser319Ter) rs1553645329
NM_004700.4(KCNQ4):c.1630del (p.Val544fs)
NM_004713.6(NEMF):c.2020dup (p.Arg674fs)
NM_004713.6(NEMF):c.517del (p.Glu172_Ile173insTer)
NM_004722.4(AP4M1):c.727G>A (p.Gly243Ser) rs1554380093
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_004766.3(COPB2):c.660_661del (p.Val222fs)
NM_004780.3(TCEAL1):c.196G>T (p.Glu66Ter)
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs) rs770285398
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs) rs1341894581
NM_004830.4(MED23):c.815dup (p.Tyr272Ter)
NM_004859.4(CLTC):c.1843C>T (p.Gln615Ter) rs2032737194
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.4420G>T (p.Glu1474Ter) rs1555607504
NM_004859.4(CLTC):c.4485_4488del (p.Ala1496fs)
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004937.3(CTNS):c.841dup (p.Tyr281fs) rs1411094034
NM_004947.5(DOCK3):c.1766_1767del (p.Lys589fs)
NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) rs1553749681
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys) rs587777900
NM_004960.4(FUS):c.1504del (p.Asp502fs) rs1161032867
NM_004973.4(JARID2):c.1272del (p.Arg425fs)
NM_004973.4(JARID2):c.2533G>T (p.Glu845Ter)
NM_004973.4(JARID2):c.2699_2700del (p.Gly900fs)
NM_004973.4(JARID2):c.416del (p.Pro139fs)
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004990.4(MARS1):c.224G>A (p.Trp75Ter)
NM_004990.4(MARS1):c.561_562del (p.Glu187fs)
NM_004990.4(MARS1):c.659del (p.Pro220fs) rs777370844
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004999.4(MYO6):c.1975C>T (p.Arg659Ter) rs1777073184
NM_005002.5(NDUFA9):c.394C>T (p.Arg132Ter)
NM_005006.7(NDUFS1):c.503del (p.Leu168fs)
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.1026C>A (p.Cys342Ter) rs1554404013
NM_005094.4(SLC27A4):c.1774G>A (p.Gly592Arg) rs869312967
NM_005120.3(MED12):c.3873G>A (p.Trp1291Ter)
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter) rs1569482431
NM_005121.3(MED13):c.3826C>T (p.Gln1276Ter) rs2080121850
NM_005121.3(MED13):c.4057_4060del (p.Pro1353fs)
NM_005121.3(MED13):c.5002C>T (p.Arg1668Ter)
NM_005121.3(MED13):c.5969-1G>A rs2079910913
NM_005121.3(MED13):c.722_726del (p.Pro241fs) rs2080779329
NM_005149.3(TBX19):c.75_78del (p.Glu26fs) rs760520604
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg) rs1949905314
NM_005198.5(CHKB):c.683dup (p.Leu228fs)
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005215.4(DCC):c.2134_2135dup (p.Ala713fs) rs2057418362
NM_005215.4(DCC):c.2540del (p.Pro847fs)
NM_005215.4(DCC):c.3061C>T (p.Arg1021Ter)
NM_005215.4(DCC):c.3445C>T (p.Arg1149Ter)
NM_005215.4(DCC):c.643C>T (p.Arg215Ter) rs1180126622
NM_005235.3(ERBB4):c.1015_1034del (p.Thr339fs)
NM_005235.3(ERBB4):c.1776dup (p.Cys593fs)
NM_005245.4(FAT1):c.2839_2840del (p.Met947fs)
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.717C>G (p.Phe239Leu) rs1555321339
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.776C>G (p.Pro259Arg) rs869312961
NM_005249.5(FOXG1):c.859A>T (p.Lys287Ter) rs1555321367
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) rs387906818
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005324.5(H3-3B):c.23C>T (p.Ala8Val) rs1555585522
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) rs797044886
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.1019dup (p.Val341fs)
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) rs1599195400
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1087T>C (p.Cys363Arg) rs377767348
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) rs1555686506
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-1G>A rs1555686594
NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs)
NM_005359.6(SMAD4):c.1176dup (p.Gly393fs) rs2144451929
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) rs1060500734
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) rs1555686604
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) rs1555686608
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) rs1555686610
NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer)
NM_005359.6(SMAD4):c.1242dup (p.Asp415fs) rs786201200
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter)
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1311del (p.Phe438fs) rs1599204042
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) rs876660720
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs) rs377767363
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) rs1599204140
NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs)
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) rs1555687388
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs)
NM_005359.6(SMAD4):c.153del (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs) rs876660150
NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)
NM_005359.6(SMAD4):c.236_239del (p.Asp79fs)
NM_005359.6(SMAD4):c.240dup (p.Arg81fs)
NM_005359.6(SMAD4):c.250-1G>A rs1555685149
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs) rs1060500739
NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)
NM_005359.6(SMAD4):c.275_276del (p.His92fs) rs1555685156
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter) rs377767323
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) rs1909619442
NM_005359.6(SMAD4):c.320del (p.Asn107fs)
NM_005359.6(SMAD4):c.334_335del (p.His111_Val112insTer)
NM_005359.6(SMAD4):c.337_343del (p.Lys113fs)
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
NM_005359.6(SMAD4):c.399C>G (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.413C>G (p.Ser138Ter) rs1599182571
NM_005359.6(SMAD4):c.415_416del (p.Pro139fs) rs1599182586
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.479dup (p.Asp160fs)
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) rs1555685645
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.6(SMAD4):c.620del (p.Asn207fs) rs2144419362
NM_005359.6(SMAD4):c.633dup (p.Ala212fs)
NM_005359.6(SMAD4):c.692del (p.Gly231fs)
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.794dup (p.Thr266fs)
NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)
NM_005359.6(SMAD4):c.881dup (p.Met294fs)
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) rs869312781
NM_005359.6(SMAD4):c.898_904+1dup rs1555685974
NM_005359.6(SMAD4):c.903del (p.Trp302fs) rs1555685978
NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter) rs1555686071
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.6(SMAD4):c.915del (p.His305fs)
NM_005359.6(SMAD4):c.917del (p.Asn306fs)
NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter) rs876658694
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) rs1568206602
NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter)
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005378.6(MYCN):c.1177C>T (p.Arg393Cys) rs104893647
NM_005378.6(MYCN):c.328del (p.Val110fs)
NM_005378.6(MYCN):c.442del (p.Gln148fs) rs886041801
NM_005378.6(MYCN):c.799del (p.Asp267fs) rs1662837763
NM_005378.6(MYCN):c.950_951dup (p.Leu318fs)
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter) rs768295360
NM_005430.4(WNT1):c.578del (p.Asp193fs)
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) rs387907356
NM_005431.2(XRCC2):c.190del (p.Arg64fs)
NM_005431.2(XRCC2):c.316_319del (p.Glu105_Glu106insTer)
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.96_99del (p.Phe32fs) rs1554411684
NM_005445.4(SMC3):c.2750A>C (p.His917Pro) rs797044861
NM_005450.6(NOG):c.358del (p.Ile120fs) rs2052470053
NM_005450.6(NOG):c.4G>T (p.Glu2Ter) rs2052465606
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005499.3(UBA2):c.816_817del (p.Trp273fs) rs1555729503
NM_005502.4(ABCA1):c.1768dup (p.Trp590fs)
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005518.4(HMGCS2):c.67dup (p.Leu23fs)
NM_005546.4(ITK):c.913del (p.Tyr305fs) rs1554102738
NM_005559.4(LAMA1):c.4120C>T (p.Gln1374Ter)
NM_005560.6(LAMA5):c.3364C>T (p.Gln1122Ter)
NM_005573.4(LMNB1):c.939+1G>A rs1751587092
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) rs1750497172
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1112_1127del (p.Gly371fs) rs1169667763
NM_005591.4(MRE11):c.1124del (p.Pro375fs)
NM_005591.4(MRE11):c.1135dup (p.Leu379fs) rs786202764
NM_005591.4(MRE11):c.1143del (p.Phe381fs) rs863224508
NM_005591.4(MRE11):c.1196del (p.Phe399fs)
NM_005591.4(MRE11):c.1207G>T (p.Glu403Ter)
NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter) rs1180352898
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005591.4(MRE11):c.1252dup (p.Ile418fs) rs1555009931
NM_005591.4(MRE11):c.1336del (p.Leu446fs) rs786203682
NM_005591.4(MRE11):c.1378G>T (p.Glu460Ter)
NM_005591.4(MRE11):c.1441dup (p.Thr481fs)
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs) rs1245161888
NM_005591.4(MRE11):c.1445_1446delinsTTAA (p.Gln482fs) rs786203314
NM_005591.4(MRE11):c.1485del (p.Asp495fs) rs1591672201
NM_005591.4(MRE11):c.1531_1532del (p.Asn511fs) rs757691558
NM_005591.4(MRE11):c.1532del (p.Asn511fs)
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
NM_005591.4(MRE11):c.1552G>T (p.Glu518Ter)
NM_005591.4(MRE11):c.157del (p.Asp53fs)
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186
NM_005591.4(MRE11):c.163_167del (p.Ile55fs)
NM_005591.4(MRE11):c.1720del (p.Arg574fs) rs767787348
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.1773_1774del (p.Gly593fs) rs1555005270
NM_005591.4(MRE11):c.1806_1809del (p.Thr603fs) rs1591652976
NM_005591.4(MRE11):c.1826dup (p.Thr610fs) rs876660269
NM_005591.4(MRE11):c.1869del (p.Phe624fs) rs1264516058
NM_005591.4(MRE11):c.1882A>T (p.Arg628Ter) rs1411087205
NM_005591.4(MRE11):c.1885C>T (p.Gln629Ter) rs1157436927
NM_005591.4(MRE11):c.1897del (p.Arg633fs) rs1555002419
NM_005591.4(MRE11):c.1957G>T (p.Glu653Ter)
NM_005591.4(MRE11):c.1997G>A (p.Trp666Ter)
NM_005591.4(MRE11):c.211del (p.Thr71fs) rs1555017238
NM_005591.4(MRE11):c.215_219dup (p.Thr74fs) rs1591719208
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005591.4(MRE11):c.295_298del (p.Val99fs) rs1555017184
NM_005591.4(MRE11):c.490_496dup (p.Pro166delinsHisTer)
NM_005591.4(MRE11):c.504_511del (p.Leu169fs) rs786202253
NM_005591.4(MRE11):c.508C>T (p.Gln170Ter) rs587782030
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005591.4(MRE11):c.592del (p.Lys197_Val198insTer) rs1359551200
NM_005591.4(MRE11):c.628del (p.Trp210fs)
NM_005591.4(MRE11):c.652C>T (p.Gln218Ter) rs1591703044
NM_005591.4(MRE11):c.739dup (p.His247fs) rs786203931
NM_005591.4(MRE11):c.775C>T (p.Gln259Ter) rs1060501788
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
NM_005591.4(MRE11):c.806C>G (p.Ser269Ter) rs776912688
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005591.4(MRE11):c.821_823delinsA (p.Leu274fs) rs786202032
NM_005591.4(MRE11):c.832G>T (p.Glu278Ter)
NM_005591.4(MRE11):c.842del (p.Lys281fs)
NM_005591.4(MRE11):c.895del (p.Ile299fs) rs1591692886
NM_005591.4(MRE11):c.916C>T (p.Gln306Ter)
NM_005591.4(MRE11):c.923dup (p.Met309fs) rs587781828
NM_005591.4(MRE11):c.939del (p.Val313_Leu314insTer)
NM_005591.4(MRE11):c.988C>T (p.Gln330Ter)
NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter) rs1583152162
NM_005618.4(DLL1):c.601del (p.His201fs) rs1783752911
NM_005618.4(DLL1):c.845del (p.Gly282fs)
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1347_1348del (p.Cys450fs)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005654.6(NR2F1):c.1075C>T (p.Gln359Ter)
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.547del (p.Cys183fs)
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)
NM_005660.3(SLC35A2):c.795del (p.Phe265fs) rs1557042808
NM_005670.4(EPM2A):c.788_791dup (p.His265fs)
NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC (p.Tyr263fs)
NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs) rs1131690789
NM_005676.5(RBM10):c.1473_1474del (p.Ser492fs) rs1556779417
NM_005732.4(RAD50):c.1002_1005del (p.Lys334fs) rs1554098203
NM_005732.4(RAD50):c.1017dup (p.Asn340fs) rs753905518
NM_005732.4(RAD50):c.1048C>T (p.Gln350Ter) rs2149840715
NM_005732.4(RAD50):c.1081C>T (p.Gln361Ter) rs1580992695
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1158_1159del (p.Pro387fs)
NM_005732.4(RAD50):c.1168_1169del (p.Glu390fs) rs876660160
NM_005732.4(RAD50):c.1174C>T (p.Gln392Ter) rs1554098251
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1174del (p.Gln392fs) rs876660039
NM_005732.4(RAD50):c.1194del (p.Lys398fs) rs780230934
NM_005732.4(RAD50):c.1206_1209del (p.Glu402fs) rs786203655
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1210C>T (p.Gln404Ter) rs1580992906
NM_005732.4(RAD50):c.1213G>T (p.Glu405Ter) rs1554098262
NM_005732.4(RAD50):c.1235del (p.Asn412fs) rs2149841198
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) rs1060501954
NM_005732.4(RAD50):c.1263del (p.Glu422fs) rs1178573189
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1284_1285del (p.Gln428fs)
NM_005732.4(RAD50):c.1287_1290del (p.Ile429fs) rs1580993390
NM_005732.4(RAD50):c.129+1del rs1580974562
NM_005732.4(RAD50):c.1291_1295del (p.Glu431fs) rs1580993404
NM_005732.4(RAD50):c.1300_1306del (p.Asp434fs) rs587780147
NM_005732.4(RAD50):c.1300_1306dup (p.Lys436delinsArgTer) rs587780147
NM_005732.4(RAD50):c.1310del (p.Thr437fs)
NM_005732.4(RAD50):c.1311_1312del (p.Gly438fs) rs1463759914
NM_005732.4(RAD50):c.1353_1356del (p.Ser451fs) rs1272811865
NM_005732.4(RAD50):c.1366G>T (p.Glu456Ter) rs876659132
NM_005732.4(RAD50):c.1376del (p.Asn459fs) rs1554098326
NM_005732.4(RAD50):c.1381A>T (p.Lys461Ter) rs1580993516
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) rs587780150
NM_005732.4(RAD50):c.139G>T (p.Glu47Ter) rs1750077980
NM_005732.4(RAD50):c.1407dup (p.Ser470fs)
NM_005732.4(RAD50):c.1544_1547del (p.Asp515fs) rs786203151
NM_005732.4(RAD50):c.154del (p.Ile52fs) rs876659837
NM_005732.4(RAD50):c.1609C>T (p.Gln537Ter)
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1633A>T (p.Lys545Ter) rs1253904315
NM_005732.4(RAD50):c.1688T>G (p.Leu563Ter)
NM_005732.4(RAD50):c.1704del (p.Tyr569fs) rs1580994859
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1736G>A (p.Trp579Ter) rs1554098484
NM_005732.4(RAD50):c.1737G>A (p.Trp579Ter) rs1580994917
NM_005732.4(RAD50):c.1774del (p.Asp592fs) rs757261714
NM_005732.4(RAD50):c.1777A>T (p.Arg593Ter)
NM_005732.4(RAD50):c.1813G>T (p.Glu605Ter) rs1580996388
NM_005732.4(RAD50):c.1826dup (p.Asn609fs) rs1554098584
NM_005732.4(RAD50):c.1851_1854del (p.Glu619fs) rs1554098588
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1953del (p.Lys651fs) rs1580996563
NM_005732.4(RAD50):c.1963C>T (p.Gln655Ter) rs1750765838
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.1970-1_1972dup rs1554098661
NM_005732.4(RAD50):c.1991del (p.Ala664fs)
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2032del (p.Gln678fs)
NM_005732.4(RAD50):c.2034_2037dup (p.Cys680fs) rs1580996988
NM_005732.4(RAD50):c.2054dup (p.Arg686fs) rs1554098683
NM_005732.4(RAD50):c.2058_2059del (p.Arg686fs) rs1580997021
NM_005732.4(RAD50):c.2069_2072del (p.Thr690fs) rs2149844090
NM_005732.4(RAD50):c.2086G>T (p.Glu696Ter) rs1388500583
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer) rs1750779319
NM_005732.4(RAD50):c.2105del (p.Gln702fs)
NM_005732.4(RAD50):c.210del (p.Lys71fs)
NM_005732.4(RAD50):c.2146G>T (p.Glu716Ter)
NM_005732.4(RAD50):c.2156dup (p.Glu723fs) rs1554098706
NM_005732.4(RAD50):c.2165del (p.Lys722fs) rs397507178
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2209C>T (p.Gln737Ter) rs549559726
NM_005732.4(RAD50):c.2227A>T (p.Lys743Ter) rs1554099081
NM_005732.4(RAD50):c.2284C>T (p.Gln762Ter) rs876660797
NM_005732.4(RAD50):c.2314del (p.Glu772fs) rs1554099106
NM_005732.4(RAD50):c.2361del (p.Cys788fs) rs1554099112
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2516T>A (p.Leu839Ter) rs776395588
NM_005732.4(RAD50):c.2534dup (p.Ile846fs) rs1281337925
NM_005732.4(RAD50):c.2569C>T (p.Gln857Ter) rs1060501973
NM_005732.4(RAD50):c.2605G>T (p.Glu869Ter) rs764449224
NM_005732.4(RAD50):c.2613del (p.Lys871fs)
NM_005732.4(RAD50):c.2685del (p.Thr896fs)
NM_005732.4(RAD50):c.2707del (p.Arg903fs) rs863224509
NM_005732.4(RAD50):c.2744dup (p.Leu915fs) rs876658976
NM_005732.4(RAD50):c.2762del (p.Lys921fs)
NM_005732.4(RAD50):c.2784del (p.Glu928fs)
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2792del (p.Asn931fs) rs1581004275
NM_005732.4(RAD50):c.2801del (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2801dup (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.282del (p.Ile94fs) rs1561634357
NM_005732.4(RAD50):c.2838_2841dup (p.Lys948delinsTyrTer)
NM_005732.4(RAD50):c.2876_2877del (p.Lys959fs) rs1581004664
NM_005732.4(RAD50):c.2899del (p.Asp967fs) rs1554099372
NM_005732.4(RAD50):c.289C>T (p.Gln97Ter) rs2149836428
NM_005732.4(RAD50):c.2928del (p.Glu977fs)
NM_005732.4(RAD50):c.2929_2932del (p.Glu977fs) rs587780153
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer) rs1060501942
NM_005732.4(RAD50):c.2940dup (p.Asn981Ter) rs2149849841
NM_005732.4(RAD50):c.2943_2946del (p.Asn981fs)
NM_005732.4(RAD50):c.2952del (p.Ile984fs) rs1581004875
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.2981_2982del (p.Lys994fs) rs1561647559
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) rs587780154
NM_005732.4(RAD50):c.2985_2989del (p.Glu995fs) rs1060501949
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3040C>T (p.Gln1014Ter) rs1581008368
NM_005732.4(RAD50):c.3055C>T (p.Gln1019Ter) rs1233081327
NM_005732.4(RAD50):c.3067_3070del (p.Leu1022_Thr1023insTer) rs1554099781
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer) rs753950483
NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter) rs1561650088
NM_005732.4(RAD50):c.3160A>T (p.Lys1054Ter)
NM_005732.4(RAD50):c.3175A>T (p.Lys1059Ter) rs1581009347
NM_005732.4(RAD50):c.3179T>A (p.Leu1060Ter) rs1554099864
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.326_327del (p.Thr109fs)
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3271_3272del (p.Glu1091fs) rs1581009466
NM_005732.4(RAD50):c.3365del (p.Asp1122fs)
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.3440_3441dup (p.Arg1148fs) rs1554100863
NM_005732.4(RAD50):c.3476del (p.Asp1159fs) rs1554100940
NM_005732.4(RAD50):c.3483del (p.Glu1161fs) rs1554100942
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3521C>G (p.Ser1174Ter)
NM_005732.4(RAD50):c.3525_3538del (p.Ser1176fs) rs1423570602
NM_005732.4(RAD50):c.354del (p.Thr119fs) rs587781721
NM_005732.4(RAD50):c.3649dup (p.Leu1217fs) rs2149865588
NM_005732.4(RAD50):c.3671del (p.Asn1224fs)
NM_005732.4(RAD50):c.3707dup (p.Asn1236fs) rs1554101189
NM_005732.4(RAD50):c.3710_3714del (p.Leu1237fs)
NM_005732.4(RAD50):c.3779del (p.Arg1260fs) rs786202259
NM_005732.4(RAD50):c.3780dup (p.Asn1261Ter) rs1581024951
NM_005732.4(RAD50):c.3781_3784dup (p.Phe1262Ter) rs1581024954
NM_005732.4(RAD50):c.3787C>T (p.Gln1263Ter) rs876659654
NM_005732.4(RAD50):c.393_394insTT (p.Lys132fs) rs1458900761
NM_005732.4(RAD50):c.393dup (p.Lys132Ter) rs1458900761
NM_005732.4(RAD50):c.399_400del (p.Ala134fs) rs587781355
NM_005732.4(RAD50):c.415G>T (p.Glu139Ter) rs876660467
NM_005732.4(RAD50):c.423del (p.Ser142fs) rs1580987185
NM_005732.4(RAD50):c.471T>A (p.Cys157Ter) rs113018012
NM_005732.4(RAD50):c.474_483delinsAA (p.His158fs) rs1064792948
NM_005732.4(RAD50):c.491G>A (p.Trp164Ter)
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) rs876659255
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.576del (p.Arg193fs) rs1580987596
NM_005732.4(RAD50):c.599del (p.Gly200fs)
NM_005732.4(RAD50):c.643C>T (p.Gln215Ter) rs587781576
NM_005732.4(RAD50):c.648del (p.Gln215_Tyr216insTer) rs1554097816
NM_005732.4(RAD50):c.689del (p.Lys230fs) rs1750477011
NM_005732.4(RAD50):c.715del (p.Glu239fs) rs1580987780
NM_005732.4(RAD50):c.72del (p.Ile25fs) rs1554096644
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer) rs1580987798
NM_005732.4(RAD50):c.788_789del (p.Leu262_Ser263insTer)
NM_005732.4(RAD50):c.815_819del (p.Ile272fs) rs1444604511
NM_005732.4(RAD50):c.833del (p.Arg278fs)
NM_005732.4(RAD50):c.897del (p.Thr300fs) rs1580992089
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090
NM_005732.4(RAD50):c.919_920del (p.Leu307fs) rs1750624491
NM_005732.4(RAD50):c.965del (p.Leu322fs) rs786203403
NM_005732.4(RAD50):c.999_1002del (p.Asn333fs) rs1580992265
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) rs1553827968
NM_005807.6(PRG4):c.3023_3024del (p.Lys1008fs) rs745371972
NM_005807.6(PRG4):c.3660del (p.Asn1221fs) rs1369814055
NM_005826.5(HNRNPR):c.1599_1600dup (p.Ala534fs)
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1163del (p.Pro388fs) rs2092569095
NM_005850.5(SF3B4):c.535A>T (p.Lys179Ter) rs2092591227
NM_005859.5(PURA):c.-20_142del (p.Met1_Gly48del)
NM_005859.5(PURA):c.101del (p.Gly34fs) rs1763036977
NM_005859.5(PURA):c.127_130del (p.Ser43fs) rs1763038687
NM_005859.5(PURA):c.153del (p.Leu54fs) rs1554129039
NM_005859.5(PURA):c.163C>T (p.Gln55Ter) rs1085307472
NM_005859.5(PURA):c.506G>C (p.Arg169Pro) rs1554129099
NM_005859.5(PURA):c.531del (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.533dup (p.Gly179fs) rs1763049893
NM_005859.5(PURA):c.583_602del (p.Leu195fs)
NM_005859.5(PURA):c.641_645dup (p.Ala216fs) rs1763052510
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter) rs1763053171
NM_005859.5(PURA):c.692T>C (p.Phe231Ser) rs1554129113
NM_005859.5(PURA):c.7_11del (p.Asp3fs) rs1554128999
NM_005859.5(PURA):c.927_940del (p.Thr310fs) rs797044944
NM_005862.3(STAG1):c.1010G>A (p.Trp337Ter)
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) rs1820936580
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_005886.3(KATNB1):c.131_147del (p.Arg44fs)
NM_005901.6(SMAD2):c.773dup (p.Asn258fs) rs1555646987
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) rs797044882
NM_005902.4(SMAD3):c.1008del (p.Gly337fs)
NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs) rs1555414236
NM_005902.4(SMAD3):c.109del (p.Ser37fs)
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) rs757106110
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.246dup (p.Leu83fs) rs1555412069
NM_005902.4(SMAD3):c.29dup (p.Ile11fs)
NM_005902.4(SMAD3):c.381C>A (p.Tyr127Ter)
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) rs863223760
NM_005902.4(SMAD3):c.546dup (p.Gly183fs)
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458
NM_005902.4(SMAD3):c.783del (p.Asp262fs)
NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter) rs753486471
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter) rs730880215
NM_005902.4(SMAD3):c.91dup (p.Cys31fs)
NM_005902.4(SMAD3):c.942del (p.Phe314fs) rs863223768
NM_005909.5(MAP1B):c.1988del (p.Lys663fs)
NM_005909.5(MAP1B):c.6068_6069del (p.Tyr2023fs)
NM_005909.5(MAP1B):c.6106dup (p.Asp2036fs) rs1747274021
NM_005918.4(MDH2):c.157dup (p.Leu53fs) rs782759642
NM_005918.4(MDH2):c.566del (p.Pro189fs)
NM_005984.5(SLC25A1):c.381_382del (p.Cys127fs)
NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter) rs1060505020
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter)
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) rs137853049
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys) rs1555162486
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)
NM_006015.6(ARID1A):c.3826C>T (p.Arg1276Ter)
NM_006015.6(ARID1A):c.5329G>T (p.Glu1777Ter)
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter) rs1555954069
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter) rs1217566598
NM_006035.4(CDC42BPB):c.1411del (p.Leu471fs)
NM_006059.4(LAMC3):c.1262C>A (p.Ser421Ter)
NM_006059.4(LAMC3):c.1648C>T (p.Gln550Ter)
NM_006059.4(LAMC3):c.3181del (p.Asp1061fs) rs1554789671
NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs)
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.305G>A (p.Trp102Ter)
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) rs752256846
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331
NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer)
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.523G>C (p.Val175Leu) rs1555625571
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006147.4(IRF6):c.1060+1G>A rs781506407
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006186.4(NR4A2):c.325dup (p.Gln109fs) rs774629025
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006236.3(POU3F3):c.1240_1243del (p.Ile413_Glu414insTer)
NM_006236.3(POU3F3):c.614_620dup (p.Ser208fs)
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln) rs397515330
NM_006265.3(RAD21):c.1222G>T (p.Gly408Ter) rs1411614521
NM_006268.5(DPF2):c.904+1G>A rs1854517568
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.458dup (p.Arg154fs) rs781249059
NM_006303.4(AIMP2):c.72_73del (p.Met24fs) rs1786357576
NM_006303.4(AIMP2):c.75C>A (p.Tyr25Ter) rs1786358808
NM_006306.4(SMC1A):c.1609del (p.Val537fs) rs1556889640
NM_006306.4(SMC1A):c.1990del (p.Arg664fs) rs1556889534
NM_006306.4(SMC1A):c.2329T>C (p.Phe777Leu) rs1556889236
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006346.4(PIBF1):c.1974_1977del (p.Asn658fs)
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006420.3(ARFGEF2):c.3758-2A>C rs2091501415
NM_006421.5(ARFGEF1):c.1420_1424del (p.Asn474fs)
NM_006421.5(ARFGEF1):c.3814C>T (p.Arg1272Ter)
NM_006421.5(ARFGEF1):c.5164C>T (p.Gln1722Ter)
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.697C>T (p.Arg233Ter) rs2036401878
NM_006494.4(ERF):c.785del (p.Pro262fs) rs1555750721
NM_006494.4(ERF):c.787C>T (p.Gln263Ter)
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006502.3(POLH):c.512del (p.Leu171fs) rs1554140189
NM_006516.4(SLC2A1):c.1119dup (p.Gly374fs)
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1236G>A (p.Trp412Ter) rs1557645002
NM_006516.4(SLC2A1):c.1263C>A (p.Cys421Ter) rs1643441134
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1399_1405dup (p.Gln469fs) rs1264369249
NM_006516.4(SLC2A1):c.1A>T (p.Met1Leu)
NM_006516.4(SLC2A1):c.257del (p.Phe86fs) rs1643484307
NM_006516.4(SLC2A1):c.309_313delinsT (p.Phe104fs)
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) rs2124449417
NM_006516.4(SLC2A1):c.679+1G>C rs1553156086
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) rs1553156053
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.1583del (p.Leu528fs) rs1555990320
NM_006517.5(SLC16A2):c.28G>T (p.Glu10Ter)
NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs) rs1555979596
NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro) rs1555979604
NM_006517.5(SLC16A2):c.644C>A (p.Pro215Gln) rs759410438
NM_006517.5(SLC16A2):c.781C>T (p.Gln261Ter) rs1930459512
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.279del (p.Lys94fs)
NM_006545.5(NPRL2):c.847C>T (p.Gln283Ter)
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1402_1415del (p.Lys467_Lys468insTer) rs2052290589
NM_006565.4(CTCF):c.1456C>T (p.Gln486Ter) rs1555535739
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.75C>A (p.Tyr25Ter) rs1555534067
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006593.4(TBR1):c.165del (p.Thr56fs)
NM_006593.4(TBR1):c.667G>C (p.Glu223Gln) rs1553510215
NM_006618.5(KDM5B):c.1538G>A (p.Trp513Ter)
NM_006618.5(KDM5B):c.1558dup (p.Tyr520fs)
NM_006618.5(KDM5B):c.2950C>T (p.Arg984Ter)
NM_006618.5(KDM5B):c.3328del (p.Glu1110fs) rs1655058321
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter) rs869312703
NM_006618.5(KDM5B):c.390dup (p.Phe131fs)
NM_006618.5(KDM5B):c.4276C>T (p.Arg1426Ter)
NM_006618.5(KDM5B):c.814_817dup (p.Met273fs)
NM_006618.5(KDM5B):c.906del (p.Ala303fs)
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter) rs979237677
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006662.3(SRCAP):c.1358dup (p.Ala454fs)
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7376del (p.Pro2459fs) rs1555465942
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) rs199469466
NM_006662.3(SRCAP):c.7727C>A (p.Ser2576Ter) rs1555465966
NM_006734.4(HIVEP2):c.3469C>T (p.Gln1157Ter)
NM_006734.4(HIVEP2):c.5835del (p.Leu1946fs) rs1775199259
NM_006734.4(HIVEP2):c.6655C>T (p.Gln2219Ter)
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) rs1554274371
NM_006736.6(DNAJB2):c.229+2T>A
NM_006765.4(TUSC3):c.529C>T (p.Gln177Ter)
NM_006766.5(KAT6A):c.1900A>T (p.Lys634Ter) rs1822469455
NM_006766.5(KAT6A):c.2127del (p.Lys709fs) rs1822257059
NM_006766.5(KAT6A):c.214A>T (p.Lys72Ter)
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter)
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3286dup (p.Cys1096fs) rs1821898026
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3395_3396del (p.Asp1132fs) rs1821770366
NM_006766.5(KAT6A):c.3692del (p.Ala1231fs) rs1821750171
NM_006766.5(KAT6A):c.3928C>T (p.Gln1310Ter) rs777592513
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.442C>T (p.Arg148Ter) rs759900272
NM_006766.5(KAT6A):c.5353del (p.Ser1785fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006767.3(LZTR1):c.264delG
NM_006767.3(LZTR1):c.404dupG
NM_006767.4(LZTR1):c.1019_1022del (p.Arg340fs) rs2147965393
NM_006767.4(LZTR1):c.1026T>A (p.Cys342Ter)
NM_006767.4(LZTR1):c.1032del (p.Glu345fs)
NM_006767.4(LZTR1):c.1037del (p.Glu346fs)
NM_006767.4(LZTR1):c.1048del (p.Thr349_Leu350insTer)
NM_006767.4(LZTR1):c.1056T>G (p.Tyr352Ter)
NM_006767.4(LZTR1):c.1076del (p.Lys359fs)
NM_006767.4(LZTR1):c.111_115del (p.Ser37fs)
NM_006767.4(LZTR1):c.1126C>T (p.Gln376Ter) rs772293748
NM_006767.4(LZTR1):c.1135C>T (p.Gln379Ter)
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1149+1G>C
NM_006767.4(LZTR1):c.1149+1G>T
NM_006767.4(LZTR1):c.1149+1dup
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
NM_006767.4(LZTR1):c.1164del (p.Arg388fs)
NM_006767.4(LZTR1):c.1171del (p.His391fs)
NM_006767.4(LZTR1):c.1190C>A (p.Ser397Ter) rs1241079044
NM_006767.4(LZTR1):c.120C>G (p.Tyr40Ter)
NM_006767.4(LZTR1):c.1214del (p.Gly405fs)
NM_006767.4(LZTR1):c.1219del (p.Val407fs)
NM_006767.4(LZTR1):c.1226del (p.Asn409fs)
NM_006767.4(LZTR1):c.1230_1231del (p.Ile411fs)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1243G>T (p.Glu415Ter)
NM_006767.4(LZTR1):c.1246del (p.Met416fs)
NM_006767.4(LZTR1):c.1251dup (p.Arg418fs) rs2147966059
NM_006767.4(LZTR1):c.1258C>T (p.Gln420Ter) rs2147966067
NM_006767.4(LZTR1):c.1266_1267del (p.Cys423fs)
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
NM_006767.4(LZTR1):c.1273_1279delinsTAAGG (p.Pro425_Cys427delinsTer)
NM_006767.4(LZTR1):c.1283del (p.Thr428fs)
NM_006767.4(LZTR1):c.1291G>T (p.Glu431Ter)
NM_006767.4(LZTR1):c.1310G>A (p.Trp437Ter) rs746949078
NM_006767.4(LZTR1):c.1312G>T (p.Glu438Ter)
NM_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)
NM_006767.4(LZTR1):c.1360_1361delinsTGC (p.Glu454fs)
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
NM_006767.4(LZTR1):c.1369C>T (p.Gln457Ter)
NM_006767.4(LZTR1):c.1391del (p.Thr464fs)
NM_006767.4(LZTR1):c.1406G>A (p.Trp469Ter)
NM_006767.4(LZTR1):c.1426C>T (p.Gln476Ter)
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter) rs752547717
NM_006767.4(LZTR1):c.1449+1G>A
NM_006767.4(LZTR1):c.1456_1468del (p.Glu486fs)
NM_006767.4(LZTR1):c.1459C>T (p.Gln487Ter)
NM_006767.4(LZTR1):c.145G>T (p.Glu49Ter)
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
NM_006767.4(LZTR1):c.1472dup (p.Val492fs)
NM_006767.4(LZTR1):c.1480del (p.Arg494fs)
NM_006767.4(LZTR1):c.1491del (p.Gly498fs)
NM_006767.4(LZTR1):c.1493del (p.Gly498fs)
NM_006767.4(LZTR1):c.1531del (p.Val511fs) rs771982640
NM_006767.4(LZTR1):c.1543G>T (p.Glu515Ter)
NM_006767.4(LZTR1):c.1549G>T (p.Glu517Ter)
NM_006767.4(LZTR1):c.1564dup (p.Glu522fs)
NM_006767.4(LZTR1):c.1575dup (p.Gln526fs)
NM_006767.4(LZTR1):c.1602del (p.Lys534fs) rs1268674934
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.1611del (p.Gly539fs)
NM_006767.4(LZTR1):c.1612A>T (p.Lys538Ter)
NM_006767.4(LZTR1):c.161G>A (p.Trp54Ter)
NM_006767.4(LZTR1):c.1634_1637dup (p.Ile547fs)
NM_006767.4(LZTR1):c.1653C>A (p.Tyr551Ter)
NM_006767.4(LZTR1):c.1653C>G (p.Tyr551Ter)
NM_006767.4(LZTR1):c.165_181dup (p.Asp61fs)
NM_006767.4(LZTR1):c.1672C>T (p.Gln558Ter)
NM_006767.4(LZTR1):c.1673_1693delinsGG (p.Gln558fs)
NM_006767.4(LZTR1):c.1681del (p.Arg561fs) rs2147967929
NM_006767.4(LZTR1):c.1687G>T (p.Glu563Ter)
NM_006767.4(LZTR1):c.1690C>T (p.Gln564Ter)
NM_006767.4(LZTR1):c.1698C>A (p.Cys566Ter)
NM_006767.4(LZTR1):c.1726del (p.Leu576fs)
NM_006767.4(LZTR1):c.1733del (p.Asn578fs)
NM_006767.4(LZTR1):c.1741del (p.Val581fs)
NM_006767.4(LZTR1):c.1749C>A (p.Cys583Ter)
NM_006767.4(LZTR1):c.1772_1773insTCGCCCGGCTGCAGCT (p.Ser592fs)
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
NM_006767.4(LZTR1):c.1807del (p.Val602_Val603insTer)
NM_006767.4(LZTR1):c.180C>A (p.Cys60Ter) rs766446110
NM_006767.4(LZTR1):c.1828C>T (p.Gln610Ter) rs2147968331
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
NM_006767.4(LZTR1):c.1846G>T (p.Glu616Ter)
NM_006767.4(LZTR1):c.1850_1851dup (p.Glu618fs)
NM_006767.4(LZTR1):c.1858dup (p.Leu620fs)
NM_006767.4(LZTR1):c.1863_1897del (p.Ser622fs)
NM_006767.4(LZTR1):c.1864_1868del (p.Ser622fs)
NM_006767.4(LZTR1):c.1874_1890del (p.Ile625fs)
NM_006767.4(LZTR1):c.1877_1880dup (p.Glu627fs)
NM_006767.4(LZTR1):c.1886del (p.Val629fs)
NM_006767.4(LZTR1):c.1896del (p.Lys632fs)
NM_006767.4(LZTR1):c.1897C>T (p.Gln633Ter)
NM_006767.4(LZTR1):c.1900C>T (p.Gln634Ter)
NM_006767.4(LZTR1):c.1909_1910del (p.Pro637fs)
NM_006767.4(LZTR1):c.1915_1916del (p.Thr639fs)
NM_006767.4(LZTR1):c.193_195delinsA (p.Gly65fs)
NM_006767.4(LZTR1):c.1941del (p.Ile647fs)
NM_006767.4(LZTR1):c.1950_1961delinsG (p.Leu651fs)
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter) rs760312637
NM_006767.4(LZTR1):c.1974C>A (p.Tyr658Ter)
NM_006767.4(LZTR1):c.1974C>G (p.Tyr658Ter) rs939793375
NM_006767.4(LZTR1):c.1978G>T (p.Glu660Ter)
NM_006767.4(LZTR1):c.199del (p.Arg67fs)
NM_006767.4(LZTR1):c.19_21delinsCC (p.Thr7fs)
NM_006767.4(LZTR1):c.19del (p.Thr7fs)
NM_006767.4(LZTR1):c.1A>G (p.Met1Val) rs1569152752
NM_006767.4(LZTR1):c.2001_2002del (p.Cys667_Asp668delinsTer)
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.2013_2014del (p.Leu672fs)
NM_006767.4(LZTR1):c.2025del (p.His676fs)
NM_006767.4(LZTR1):c.2059_2060insT (p.Ala687fs)
NM_006767.4(LZTR1):c.2073C>A (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2083_2084del (p.Met695fs)
NM_006767.4(LZTR1):c.2089del (p.Arg697fs) rs2147969560
NM_006767.4(LZTR1):c.209_216del (p.Lys70fs)
NM_006767.4(LZTR1):c.20_21delinsA (p.Thr7fs)
NM_006767.4(LZTR1):c.20del (p.Thr7fs)
NM_006767.4(LZTR1):c.2104G>T (p.Glu702Ter)
NM_006767.4(LZTR1):c.210_211del (p.Thr72fs)
NM_006767.4(LZTR1):c.2113C>T (p.Gln705Ter) rs778396468
NM_006767.4(LZTR1):c.2149del (p.Arg717fs)
NM_006767.4(LZTR1):c.214dup (p.Thr72fs)
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter) rs767482247
NM_006767.4(LZTR1):c.2159del (p.Phe720fs) rs1924832357
NM_006767.4(LZTR1):c.215_216del (p.Thr72fs)
NM_006767.4(LZTR1):c.2166del (p.Met723fs)
NM_006767.4(LZTR1):c.2174dup (p.Tyr726fs)
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2178C>G (p.Tyr726Ter)
NM_006767.4(LZTR1):c.2178_2179dup (p.Ile727fs)
NM_006767.4(LZTR1):c.2186dup (p.Tyr729Ter)
NM_006767.4(LZTR1):c.2193_2194delinsA (p.Val732fs)
NM_006767.4(LZTR1):c.2216C>A (p.Ser739Ter)
NM_006767.4(LZTR1):c.2223C>A (p.Tyr741Ter)
NM_006767.4(LZTR1):c.2229del (p.Phe743fs) rs1924863769
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2241C>A (p.Tyr747Ter)
NM_006767.4(LZTR1):c.2247C>A (p.Tyr749Ter) rs779077819
NM_006767.4(LZTR1):c.2256C>A (p.Tyr752Ter)
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328
NM_006767.4(LZTR1):c.2291_2301del (p.Leu764fs)
NM_006767.4(LZTR1):c.2302del (p.Asn767_Val768insTer) rs1924869044
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs) rs1231204217
NM_006767.4(LZTR1):c.2323C>T (p.Gln775Ter)
NM_006767.4(LZTR1):c.238dup (p.Ile80fs)
NM_006767.4(LZTR1):c.2406G>C (p.Lys802Asn) rs1284200353
NM_006767.4(LZTR1):c.25_26delinsA (p.Gly9fs)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.286del (p.Leu96fs)
NM_006767.4(LZTR1):c.301A>T (p.Lys101Ter)
NM_006767.4(LZTR1):c.314G>A (p.Trp105Ter)
NM_006767.4(LZTR1):c.315G>A (p.Trp105Ter)
NM_006767.4(LZTR1):c.321-2del
NM_006767.4(LZTR1):c.325_328del (p.Phe109fs)
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.356dup (p.Tyr119Ter)
NM_006767.4(LZTR1):c.357C>G (p.Tyr119Ter)
NM_006767.4(LZTR1):c.365C>A (p.Ser122Ter) rs587777177
NM_006767.4(LZTR1):c.37del (p.Ala13fs)
NM_006767.4(LZTR1):c.382dup (p.Ser128fs) rs2147961500
NM_006767.4(LZTR1):c.3G>A (p.Met1Ile)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
NM_006767.4(LZTR1):c.428del (p.Asn143fs)
NM_006767.4(LZTR1):c.42_44delinsCG (p.Leu16fs)
NM_006767.4(LZTR1):c.438del (p.Lys147fs) rs1555927613
NM_006767.4(LZTR1):c.439A>T (p.Lys147Ter)
NM_006767.4(LZTR1):c.454_458del (p.Asp151_Leu152insTer)
NM_006767.4(LZTR1):c.458_459del (p.Leu152_Phe153insTer) rs1924461126
NM_006767.4(LZTR1):c.466A>T (p.Lys156Ter)
NM_006767.4(LZTR1):c.466_469del (p.Lys156fs)
NM_006767.4(LZTR1):c.481C>T (p.Gln161Ter) rs2147962049
NM_006767.4(LZTR1):c.496A>T (p.Lys166Ter)
NM_006767.4(LZTR1):c.509+1G>A
NM_006767.4(LZTR1):c.519del (p.Ala174fs)
NM_006767.4(LZTR1):c.542_543del (p.Thr181fs)
NM_006767.4(LZTR1):c.549C>G (p.Tyr183Ter)
NM_006767.4(LZTR1):c.549_550del (p.Tyr183_Ser184delinsTer)
NM_006767.4(LZTR1):c.563G>A (p.Trp188Ter) rs1924497235
NM_006767.4(LZTR1):c.570del (p.Phe190fs)
NM_006767.4(LZTR1):c.578_579del (p.Gly192_Tyr193insTer)
NM_006767.4(LZTR1):c.594-1G>A
NM_006767.4(LZTR1):c.594-1G>C
NM_006767.4(LZTR1):c.5_11dup (p.Gly5fs)
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.606del (p.Met202fs)
NM_006767.4(LZTR1):c.607del (p.Trp203fs)
NM_006767.4(LZTR1):c.610del (p.Thr204fs)
NM_006767.4(LZTR1):c.622C>T (p.Gln208Ter)
NM_006767.4(LZTR1):c.628dup (p.Arg210fs) rs1457594219
NM_006767.4(LZTR1):c.636_638delinsT (p.Thr213fs)
NM_006767.4(LZTR1):c.645G>A (p.Trp215Ter)
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.650A>C (p.Glu217Ala)
NM_006767.4(LZTR1):c.671del (p.Ile224fs)
NM_006767.4(LZTR1):c.672_673delinsA (p.Pro226fs)
NM_006767.4(LZTR1):c.677del (p.Pro226fs)
NM_006767.4(LZTR1):c.677dup (p.Ser227fs) rs777054968
NM_006767.4(LZTR1):c.682del (p.Cys228fs)
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
NM_006767.4(LZTR1):c.696del (p.Val233fs)
NM_006767.4(LZTR1):c.696dup (p.Val233fs)
NM_006767.4(LZTR1):c.718del (p.Met240fs)
NM_006767.4(LZTR1):c.722_725del (p.Phe241fs)
NM_006767.4(LZTR1):c.735dup (p.Gln246fs)
NM_006767.4(LZTR1):c.741_742del (p.Ser247fs)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.748A>T (p.Lys250Ter)
NM_006767.4(LZTR1):c.751del (p.Lys250_Ile251insTer)
NM_006767.4(LZTR1):c.752_758dup (p.Leu255fs)
NM_006767.4(LZTR1):c.769C>T (p.Gln257Ter)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006767.4(LZTR1):c.775del (p.Glu259fs)
NM_006767.4(LZTR1):c.77del (p.Pro26fs)
NM_006767.4(LZTR1):c.787_788del (p.Lys263fs)
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
NM_006767.4(LZTR1):c.834_840dup (p.Pro281fs)
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
NM_006767.4(LZTR1):c.855C>G (p.Tyr285Ter)
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)
NM_006767.4(LZTR1):c.891T>G (p.Tyr297Ter)
NM_006767.4(LZTR1):c.897dup (p.Gly300fs)
NM_006767.4(LZTR1):c.902del (p.Gly301fs)
NM_006767.4(LZTR1):c.902dup (p.Ala302fs)
NM_006767.4(LZTR1):c.928_931del (p.Glu310fs)
NM_006767.4(LZTR1):c.933_940dup (p.Tyr314fs)
NM_006767.4(LZTR1):c.946del (p.Val316fs)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_006767.4(LZTR1):c.962_964del (p.Trp321_Glu322delinsTer)
NM_006767.4(LZTR1):c.963G>A (p.Trp321Ter)
NM_006767.4(LZTR1):c.964G>T (p.Glu322Ter)
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.985del (p.Asp329fs)
NM_006767.4(LZTR1):c.987_988dup (p.Ser330fs)
NM_006767.4(LZTR1):c.991G>T (p.Glu331Ter)
NM_006767.4(LZTR1):c.993+1G>T rs770368435
NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter)
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter) rs1561785045
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) rs2151170078
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs) rs1554121353
NM_006772.3(SYNGAP1):c.1564G>T (p.Glu522Ter)
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1676+1G>C
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter) rs1554121729
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs) rs1761050922
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) rs1064796547
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>A rs1554122402
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs) rs1554122710
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs) rs1761210688
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs) rs1554304258
NM_006772.3(SYNGAP1):c.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.510-2A>G rs1554120894
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs) rs1554120939
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs) rs1554120966
NM_006852.6(TLK2):c.1189-2A>G
NM_006852.6(TLK2):c.1397dup (p.Ala467fs)
NM_006852.6(TLK2):c.1746del (p.Ala583fs) rs1555661506
NM_006852.6(TLK2):c.713del (p.Leu238fs) rs2078645664
NM_006852.6(TLK2):c.859_860del (p.Arg286_Asp287insTer) rs2079640097
NM_006859.4(LIAS):c.692T>G (p.Leu231Ter)
NM_006885.4(ZFHX3):c.5497G>T (p.Glu1833Ter)
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006914.4(RORB):c.218T>C (p.Leu73Pro) rs869312971
NM_006914.4(RORB):c.640C>T (p.Arg214Ter) rs1824166369
NM_006922.4(SCN3A):c.1318C>T (p.Gln440Ter) rs797044933
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) rs895607185
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_006940.6(SOX5):c.747_748del (p.Arg250fs) rs1555301854
NM_006940.6(SOX5):c.931+1G>C rs998320959
NM_006941.4(SOX10):c.1051del (p.Asp351fs)
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter) rs769987150
NM_006946.4(SPTBN2):c.2250_2252del (p.Tyr750_Gln751delinsTer)
NM_006950.3(SYN1):c.1310del (p.Pro437fs) rs1569322834
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_007103.4(NDUFV1):c.153G>A (p.Trp51Ter)
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter) rs1554062588
NM_007118.4(TRIO):c.3119G>A (p.Trp1040Ter) rs1554064863
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met) rs1747351918
NM_007118.4(TRIO):c.5274_5283del (p.Gly1759fs) rs1753758481
NM_007118.4(TRIO):c.6092del (p.Phe2030_Leu2031insTer) rs752676391
NM_007118.4(TRIO):c.7353_7354insCCAAGCCCCGGGCC (p.Gly2452fs)
NM_007118.4(TRIO):c.8400_8409del (p.Glu2801fs)
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007129.5(ZIC2):c.85_86insGGGGGGGGGG (p.Ala29fs)
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007194.4(CHEK2):c.1004_1005del (p.Val335fs)
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter) rs2145841361
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.1025del (p.Gly342fs)
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) rs878854908
NM_007194.4(CHEK2):c.1046del (p.Lys349fs)
NM_007194.4(CHEK2):c.1059_1060insA (p.Leu354fs)
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter) rs2145816590
NM_007194.4(CHEK2):c.1066dup (p.Ser356fs)
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.1085_1088dup (p.Ile364fs)
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1100dup (p.Thr367_Asp368insTer)
NM_007194.4(CHEK2):c.1110del (p.His371fs)
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.1124del (p.Leu375fs)
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
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.1151T>A (p.Leu384Ter)
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.1172T>A (p.Leu391Ter)
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) rs587780169
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.1200del (p.Thr401fs)
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.1212T>A (p.Tyr404Ter) rs587781836
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) rs786203031
NM_007194.4(CHEK2):c.1229del (p.Cys410fs)
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) rs1064796572
NM_007194.4(CHEK2):c.1237_1238insG (p.Leu413fs)
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer) rs1555913645
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1254dup (p.Ile419fs)
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
NM_007194.4(CHEK2):c.1260_1261del (p.Cys420_Leu421insTer)
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1269del (p.Tyr424fs)
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1277del (p.Pro426fs)
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.1297C>T (p.Gln433Ter) rs1555913494
NM_007194.4(CHEK2):c.1305dup (p.Leu436fs)
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) rs2145794764
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) rs1555913464
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter) rs1214213337
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter) rs1601719469
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.1349_1350del (p.Glu450fs) rs1601719250
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.1357del (p.Ala453fs)
NM_007194.4(CHEK2):c.1360_1361insGC (p.Glu454fs)
NM_007194.4(CHEK2):c.1364del (p.Val455fs)
NM_007194.4(CHEK2):c.1368del (p.Glu457fs) rs1555913410
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs) rs2052513579
NM_007194.4(CHEK2):c.1377del (p.Leu460fs)
NM_007194.4(CHEK2):c.1397T>A (p.Leu466Ter) rs1601716482
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) rs1555913161
NM_007194.4(CHEK2):c.1400del (p.Leu467fs) rs2052472184
NM_007194.4(CHEK2):c.1425del (p.Phe475fs)
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) rs1555913106
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) rs1555913078
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) rs1601715865
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) rs1420382294
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
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.156_166del (p.Ser53fs)
NM_007194.4(CHEK2):c.159_160del (p.His54fs) rs2054324732
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.195_198del (p.Val66fs)
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.213_214insA (p.Tyr72fs)
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.225del (p.Glu76fs)
NM_007194.4(CHEK2):c.232del (p.Gln78fs) rs1555932344
NM_007194.4(CHEK2):c.233_239del (p.Gln78fs)
NM_007194.4(CHEK2):c.234del (p.Glu79fs)
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) rs1555932326
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.259del (p.Glu87fs)
NM_007194.4(CHEK2):c.269del (p.Pro90fs) rs1555932231
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) rs1555932231
NM_007194.4(CHEK2):c.272_278del (p.Ala91fs)
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.280del (p.Ala94fs)
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) rs2054312626
NM_007194.4(CHEK2):c.292del (p.Ala98fs) rs1555932116
NM_007194.4(CHEK2):c.295del (p.Leu99fs) rs1601851248
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) rs876659833
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
NM_007194.4(CHEK2):c.319+3A>C rs1569169765
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer) rs2053967484
NM_007194.4(CHEK2):c.326_341del (p.Val109fs)
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
NM_007194.4(CHEK2):c.360del (p.Cys121fs) rs1601825829
NM_007194.4(CHEK2):c.364del (p.Glu122fs) rs786203355
NM_007194.4(CHEK2):c.366del (p.Glu122fs) rs1555927302
NM_007194.4(CHEK2):c.368_369dup (p.Cys124fs)
NM_007194.4(CHEK2):c.369_442dup (p.Arg148delinsIleAlaLeuMetAsnHisCysTer)
NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter) rs1555927291
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) rs1275395933
NM_007194.4(CHEK2):c.403A>T (p.Lys135Ter)
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter) rs911826883
NM_007194.4(CHEK2):c.415_422del (p.Tyr139fs)
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs) rs1601824130
NM_007194.4(CHEK2):c.465_468dup (p.Ile157fs)
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) rs1555926996
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.480dup (p.Glu161fs)
NM_007194.4(CHEK2):c.482_486delinsTGG (p.Glu161fs)
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) rs1601823546
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer) rs2146058204
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
NM_007194.4(CHEK2):c.557del (p.Asn186fs) rs2146057730
NM_007194.4(CHEK2):c.568_569insACCTTTGAATAACAATTCTGAAATTG (p.Ala190delinsAspLeuTer) rs1601823036
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter) rs1555932877
NM_007194.4(CHEK2):c.570del (p.Leu191fs)
NM_007194.4(CHEK2):c.571_572del (p.Leu191fs)
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+1G>A rs1601822722
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) rs1555926708
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
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.623_626del (p.Asp208fs)
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
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.64del (p.His22fs) rs2054335480
NM_007194.4(CHEK2):c.651del (p.Asp218fs)
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.656_666del (p.Glu219fs)
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
NM_007194.4(CHEK2):c.670A>T (p.Lys224Ter)
NM_007194.4(CHEK2):c.673del (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.684-1582_846+1965dup
NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs) rs1555921327
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) rs753972711
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs) rs2146157133
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) rs1601783879
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.730A>T (p.Lys244Ter)
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter) rs1601783375
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer) rs2053412352
NM_007194.4(CHEK2):c.746del (p.Lys249fs)
NM_007194.4(CHEK2):c.762_765dup (p.Phe256fs)
NM_007194.4(CHEK2):c.762del (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.762dup (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.76delinsCT (p.Thr26fs)
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) rs2053407842
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) rs1060502710
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) rs2145948828
NM_007194.4(CHEK2):c.792del (p.Asp265fs)
NM_007194.4(CHEK2):c.792dup (p.Asp265fs)
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.797del (p.Pro266fs)
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) rs376736188
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.831dup (p.Lys278fs)
NM_007194.4(CHEK2):c.836del (p.Lys279fs) rs1555920142
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.4(CHEK2):c.856del (p.Ile286fs)
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.864del (p.Asn290fs)
NM_007194.4(CHEK2):c.866_869del (p.Lys289fs)
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.879del (p.Asp293fs) rs1555916968
NM_007194.4(CHEK2):c.883G>T (p.Glu295Ter)
NM_007194.4(CHEK2):c.892del (p.Tyr298fs) rs2145877300
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.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.935_936del (p.Lys312fs)
NM_007194.4(CHEK2):c.938del (p.Val313fs) rs2052766776
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.953_966del (p.Arg318fs)
NM_007194.4(CHEK2):c.953del (p.Arg318fs)
NM_007194.4(CHEK2):c.960dup (p.Glu321fs)
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.963del (p.Ala322fs) rs2052762437
NM_007194.4(CHEK2):c.966_972dup (p.Lys325fs) rs1601738571
NM_007194.4(CHEK2):c.974del (p.Lys325fs) rs1555915409
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs) rs1555915392
NM_007194.4(CHEK2):c.980delinsTG (p.Tyr327fs)
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) rs1569121048
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
NM_007194.4(CHEK2):c.992del (p.Met331fs)
NM_007198.4(PLPBP):c.35dup (p.Val13fs)
NM_007217.4(PDCD10):c.299del (p.Phe100fs) rs1720729752
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)
NM_007272.3(CTRC):c.190_193del (p.Ile64fs)
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)
NM_007272.3(CTRC):c.576_588del (p.Trp191_Trp192insTer)
NM_007272.3(CTRC):c.57dup (p.Pro20fs)
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007279.3(U2AF2):c.445C>T (p.Arg149Trp) rs1600073584
NM_007279.3(U2AF2):c.449G>A (p.Arg150His)
NM_007294.3(BRCA1):c.238_239delAGins22 (p.?)
NM_007294.3:c.-76154_4890del
NM_007294.3:c.134+2460_4357+2437dup
NM_007294.3:c.134+2513_4357+2438dup
NM_007294.3:c.5074+925_5277+2098dup
NM_007294.4(BRCA1):c.1002del (p.Ser335fs) rs876658404
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs) rs1555592671
NM_007294.4(BRCA1):c.1009dup (p.Glu337fs)
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter) rs397508826
NM_007294.4(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer) rs80357774
NM_007294.4(BRCA1):c.101del (p.Pro34fs) rs80357750
NM_007294.4(BRCA1):c.1041del (p.Cys348fs) rs1597878453
NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter) rs80357338
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs) rs886039925
NM_007294.4(BRCA1):c.1054del (p.Glu352fs) rs886039926
NM_007294.4(BRCA1):c.1058_1062del (p.Glu352_Trp353insTer) rs1555592576
NM_007294.4(BRCA1):c.105_134+1007delinsTCCTTGAT
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1066delinsGATGGAATAAGG (p.Gln356fs)
NM_007294.4(BRCA1):c.1067del (p.Gln356fs) rs80357796
NM_007294.4(BRCA1):c.1071del (p.Lys357fs)
NM_007294.4(BRCA1):c.1072del (p.Leu358fs) rs80357836
NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter) rs397508833
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs) rs80357897
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs) rs80359875
NM_007294.4(BRCA1):c.1088del (p.Asn363fs) rs80357954
NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter) rs398122627
NM_007294.4(BRCA1):c.1099del (p.Thr367fs) rs2154476235
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter) rs80357139
NM_007294.4(BRCA1):c.1105_1106insTC (p.Asp369fs) rs876659396
NM_007294.4(BRCA1):c.1105dup (p.Asp369fs) rs1555592498
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.1120del (p.Thr374fs)
NM_007294.4(BRCA1):c.1121del (p.Thr374fs) rs80357612
NM_007294.4(BRCA1):c.1124del (p.Leu375fs)
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1129del (p.Ser377fs) rs2053988613
NM_007294.4(BRCA1):c.1129dup (p.Ser377fs) rs80357776
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs) rs80357949
NM_007294.4(BRCA1):c.1133del (p.Ser378fs) rs1597877892
NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter) rs397508840
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter) rs80357385
NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs) rs431825384
NM_007294.4(BRCA1):c.1148del (p.Asn383fs) rs878854930
NM_007294.4(BRCA1):c.1154G>A (p.Trp385Ter) rs1555592354
NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter) rs876660558
NM_007294.4(BRCA1):c.1155del (p.Trp385fs) rs2154473109
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.115_134+1567del
NM_007294.4(BRCA1):c.1162A>T (p.Arg388Ter) rs111312760
NM_007294.4(BRCA1):c.1165del (p.Ser389fs) rs80357985
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter) rs562553169
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1179_1180dup (p.Gly394fs) rs1555592304
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.4(BRCA1):c.1188del (p.Asp396fs) rs397508845
NM_007294.4(BRCA1):c.1190del (p.Asp397fs) rs748714307
NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter) rs80357068
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter) rs273897655
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.1205dup (p.Ser403fs) rs1555592219
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1217del (p.Asn406fs) rs397508846
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.1232_1233del (p.Asp411fs) rs397508848
NM_007294.4(BRCA1):c.1232_1235delinsCA (p.Asp411fs) rs876659253
NM_007294.4(BRCA1):c.1240dup (p.Asp414fs) rs786204260
NM_007294.4(BRCA1):c.124del (p.Ile42fs) rs80357943
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter) rs80357083
NM_007294.4(BRCA1):c.1252del (p.Glu418fs) rs876660623
NM_007294.4(BRCA1):c.1252dup (p.Glu418fs) rs886039936
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer) rs80357535
NM_007294.4(BRCA1):c.1256dup (p.Asp420fs) rs786203103
NM_007294.4(BRCA1):c.1259del (p.Asp420fs)
NM_007294.4(BRCA1):c.1264dup (p.Tyr422fs)
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs) rs397508850
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter) rs80357417
NM_007294.4(BRCA1):c.1271del (p.Gly424fs)
NM_007294.4(BRCA1):c.1276del (p.Ser426fs) rs80357766
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs) rs80357576
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs) rs397508852
NM_007294.4(BRCA1):c.1297del (p.Ala433fs) rs80357794
NM_007294.4(BRCA1):c.1303_1309del (p.Asp435fs)
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.1312G>T (p.Glu438Ter)
NM_007294.4(BRCA1):c.1312_1322del (p.Glu438fs)
NM_007294.4(BRCA1):c.1315dup (p.Ala439fs) rs1555591956
NM_007294.4(BRCA1):c.1319T>G (p.Leu440Ter) rs273897656
NM_007294.4(BRCA1):c.1319del (p.Ala439_Leu440insTer) rs80357683
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer) rs1597911705
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs) rs80357570
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs) rs80357543
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter) rs397508854
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs) rs397508857
NM_007294.4(BRCA1):c.134+1G>A rs80358043
NM_007294.4(BRCA1):c.134+1G>C rs80358043
NM_007294.4(BRCA1):c.134+2T>A rs80358131
NM_007294.4(BRCA1):c.134+2T>C rs80358131
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.134+3A>T rs80358064
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.134+5G>C rs80358038
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs) rs80357597
NM_007294.4(BRCA1):c.135-1G>A rs80358158
NM_007294.4(BRCA1):c.135-1G>C rs80358158
NM_007294.4(BRCA1):c.135-2A>G rs80358065
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1361del (p.Ser454fs) rs398122632
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs) rs1555591850
NM_007294.4(BRCA1):c.1369G>T (p.Glu457Ter) rs2154451153
NM_007294.4(BRCA1):c.1374del (p.Asp458fs) rs397508862
NM_007294.4(BRCA1):c.1378dup (p.Ile460fs) rs398122633
NM_007294.4(BRCA1):c.137_141delinsAATTTATAGATTT (p.Phe46_Cys47delinsTer)
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs) rs273897659
NM_007294.4(BRCA1):c.1395T>G (p.Tyr465Ter) rs2154448397
NM_007294.4(BRCA1):c.1395del (p.Arg466fs)
NM_007294.4(BRCA1):c.139dup (p.Cys47fs) rs80357734
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter) rs80357490
NM_007294.4(BRCA1):c.1428_1437del (p.His476fs) rs886039953
NM_007294.4(BRCA1):c.1432_1441dup (p.Leu481delinsHisTer)
NM_007294.4(BRCA1):c.1434del (p.Glu479fs) rs431825386
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs) rs80357505
NM_007294.4(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) rs80357801
NM_007294.4(BRCA1):c.1444_1447dup (p.Ile483fs) rs80357801
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) rs80357304
NM_007294.4(BRCA1):c.1457_1461del (p.Phe486fs)
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs) rs80357599
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) rs62625303
NM_007294.4(BRCA1):c.1473_1474del (p.Gln491fs)
NM_007294.4(BRCA1):c.1475_1476del (p.Ile492fs)
NM_007294.4(BRCA1):c.1477del (p.Ile493fs) rs786203982
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter) rs2053932763
NM_007294.4(BRCA1):c.1488del (p.Leu498fs) rs587782251
NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs) rs886039955
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1505T>G (p.Leu502Ter) rs886039957
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs) rs876659139
NM_007294.4(BRCA1):c.1508del (p.Lys503fs) rs80357506
NM_007294.4(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1511dup (p.Arg504_Lys505insTer) rs80357817
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter) rs398122636
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter) rs397508877
NM_007294.4(BRCA1):c.1518del (p.Arg507fs) rs80357947
NM_007294.4(BRCA1):c.1523del (p.Pro508fs) rs80357782
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) rs80357427
NM_007294.4(BRCA1):c.1530del (p.Gly511fs) rs80357735
NM_007294.4(BRCA1):c.1531_1555del (p.Gly511fs)
NM_007294.4(BRCA1):c.1532del (p.Gly511fs)
NM_007294.4(BRCA1):c.1532dup (p.Leu512fs)
NM_007294.4(BRCA1):c.1534del (p.Leu512fs)
NM_007294.4(BRCA1):c.1542_1550delinsCG (p.Glu515fs) rs876659591
NM_007294.4(BRCA1):c.1551dup (p.Ile518fs)
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1568del (p.Leu523fs) rs1555591543
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) rs80356984
NM_007294.4(BRCA1):c.1576_1580delinsAAG (p.Gln526fs)
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs) rs431825387
NM_007294.4(BRCA1):c.1586del (p.Pro529fs)
NM_007294.4(BRCA1):c.1598del (p.Asn533fs)
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.4(BRCA1):c.1601_1602del (p.Gln534fs) rs878854933
NM_007294.4(BRCA1):c.1604del (p.Gly535fs) rs2154434302
NM_007294.4(BRCA1):c.1606del (p.Thr536fs)
NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter) rs80356864
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs) rs587776480
NM_007294.4(BRCA1):c.1618del (p.Glu540fs) rs1555591470
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter) rs80356952
NM_007294.4(BRCA1):c.1636_1654del (p.Met546fs) rs80359881
NM_007294.4(BRCA1):c.1644_1689dup (p.Asn564delinsTyrTer)
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1674dup (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1676del (p.Gly559fs) rs1555591383
NM_007294.4(BRCA1):c.1677_1678del (p.Asp560fs) rs2053901700
NM_007294.4(BRCA1):c.1691del (p.Asn564fs) rs2053899411
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs) rs273897664
NM_007294.4(BRCA1):c.1700_1701dup (p.Pro568fs)
NM_007294.4(BRCA1):c.1700dup (p.Asn567fs) rs80357784
NM_007294.4(BRCA1):c.1709del (p.Pro570fs) rs2154428779
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs) rs80357640
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.1716del (p.Glu572fs) rs397508900
NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter) rs397508902
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) rs397508903
NM_007294.4(BRCA1):c.1729_1730del (p.Glu577fs) rs80357834
NM_007294.4(BRCA1):c.1745del (p.Thr582fs) rs1597874447
NM_007294.4(BRCA1):c.1757del (p.Pro586fs) rs80357723
NM_007294.4(BRCA1):c.1758_1760delinsAA (p.Ile587fs)
NM_007294.4(BRCA1):c.1759_1762del (p.Ile587fs) rs879255479
NM_007294.4(BRCA1):c.1759del (p.Pro586_Ile587insTer) rs398122642
NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs) rs876659196
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter) rs55650082
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs) rs397508907
NM_007294.4(BRCA1):c.1791del (p.Glu597fs)
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter) rs80357118
NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs) rs886039968
NM_007294.4(BRCA1):c.1801dup (p.His601fs)
NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter) rs397508909
NM_007294.4(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.1823del (p.Lys608fs) rs397508911
NM_007294.4(BRCA1):c.1823dup (p.Asn609fs) rs397508911
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs) rs397508912
NM_007294.4(BRCA1):c.1831del (p.Arg610_Leu611insTer) rs397508913
NM_007294.4(BRCA1):c.1836dup (p.Arg613fs) rs876660523
NM_007294.4(BRCA1):c.1837dup (p.Arg613fs)
NM_007294.4(BRCA1):c.1860del (p.His621fs) rs730881459
NM_007294.4(BRCA1):c.1869_1902del (p.Glu624fs)
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter) rs80356950
NM_007294.4(BRCA1):c.1871_1874delinsTTC (p.Glu624fs)
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer) rs398122646
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1892dup (p.Ser632fs) rs80357932
NM_007294.4(BRCA1):c.1898del (p.Pro633fs) rs80357851
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1912del (p.Glu638fs) rs80357933
NM_007294.4(BRCA1):c.1915_1993del (p.Leu639fs)
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter) rs80357267
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs) rs397507194
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs) rs886039982
NM_007294.4(BRCA1):c.192T>A (p.Cys64Ter) rs587781632
NM_007294.4(BRCA1):c.1934del (p.Ser645fs)
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs) rs397508920
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs) rs80357753
NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs) rs80357522
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1962del (p.Lys654fs)
NM_007294.4(BRCA1):c.1964del (p.Tyr655fs) rs786203594
NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter) rs886039987
NM_007294.4(BRCA1):c.1965C>G (p.Tyr655Ter) rs886039987
NM_007294.4(BRCA1):c.196_204delinsGACATAAGGTATAT (p.Asn66fs)
NM_007294.4(BRCA1):c.1974del (p.Met658fs)
NM_007294.4(BRCA1):c.1978del (p.Val660fs) rs886039988
NM_007294.4(BRCA1):c.1987del (p.Ser663fs)
NM_007294.4(BRCA1):c.1998_2022del (p.Met669fs)
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.4(BRCA1):c.19_47del (p.Arg7fs) rs80359871
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs) rs80357521
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter) rs397508929
NM_007294.4(BRCA1):c.2016dup (p.Glu673fs) rs2154403814
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter) rs80357391
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.2029G>T (p.Gly677Ter) rs1597872603
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs) rs397508932
NM_007294.4(BRCA1):c.203_204del (p.Ile68fs) rs398122651
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.2046del (p.Asn682fs)
NM_007294.4(BRCA1):c.2055dup (p.Glu686Ter)
NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter) rs587782709
NM_007294.4(BRCA1):c.2056dup (p.Glu686fs)
NM_007294.4(BRCA1):c.2057_2060del (p.Glu686fs) rs1597872456
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.2061_2064del (p.Thr688fs) rs1597872420
NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs) rs886037994
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2074del (p.His692fs) rs80357554
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs) rs80357595
NM_007294.4(BRCA1):c.2077delinsATA (p.Asp693fs) rs886039991
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs) rs886039996
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter) rs876660282
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) rs80357814
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.4(BRCA1):c.2125_2126insAG (p.Phe709Ter)
NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter) rs1555590428
NM_007294.4(BRCA1):c.2126_2127del (p.Phe709fs) rs397508939
NM_007294.4(BRCA1):c.2127del (p.Phe709fs) rs397508939
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) rs80356913
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.213-1G>A rs80358146
NM_007294.4(BRCA1):c.213-2A>G rs397508940
NM_007294.4(BRCA1):c.213-5T>A rs886038196
NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs) rs1060502332
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs) rs398122653
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter) rs80357233
NM_007294.4(BRCA1):c.2143_2155delinsTCTTT (p.Thr715fs) rs1567796807
NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs) rs886040005
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) rs80356875
NM_007294.4(BRCA1):c.2158_2159del (p.Glu720fs) rs1567796780
NM_007294.4(BRCA1):c.2164del (p.Val722fs) rs1555590315
NM_007294.4(BRCA1):c.2174_2256dup (p.Ser753delinsAlaPheGlnGluLysLysLysLysArgAsnTer)
NM_007294.4(BRCA1):c.2176del (p.Leu726fs) rs80357668
NM_007294.4(BRCA1):c.2187del (p.Glu730fs)
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs) rs397508946
NM_007294.4(BRCA1):c.2193_2196del (p.Glu732fs) rs397508947
NM_007294.4(BRCA1):c.2193del (p.Glu732fs) rs886040009
NM_007294.4(BRCA1):c.2193dup (p.Glu732fs)
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter) rs80357426
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter) rs397508949
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.2202del (p.Lys734fs) rs80357982
NM_007294.4(BRCA1):c.2209del (p.Thr737fs) rs1060502333
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs) rs80357654
NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs) rs397508951
NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs) rs80357574
NM_007294.4(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) rs56329598
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.2244del (p.Asp749fs)
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs) rs80357697
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs) rs80357602
NM_007294.4(BRCA1):c.2260G>T (p.Gly754Ter) rs2053792392
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2263del (p.Glu755fs) rs80357960
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2273del (p.Leu758fs) rs80357681
NM_007294.4(BRCA1):c.2273dup (p.Leu758fs) rs80357681
NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter) rs80356999
NM_007294.4(BRCA1):c.2281G>T (p.Glu761Ter)
NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs) rs80357657
NM_007294.4(BRCA1):c.2289del (p.Ser763_Val764insTer) rs876658791
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.4(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer) rs80357780
NM_007294.4(BRCA1):c.2297_2298del (p.Ser766fs) rs1597870909
NM_007294.4(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_007294.4(BRCA1):c.2302del (p.Ser768fs) rs1555589953
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2314del (p.Val772fs) rs80357957
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs) rs80357725
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2340_2394dup (p.Asn799delinsGlyLysTyrLeuValThrGlySerTer) rs1597870272
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)
NM_007294.4(BRCA1):c.2342_2343insCT (p.Glu781fs)
NM_007294.4(BRCA1):c.2344dup (p.Ser782fs) rs2053777729
NM_007294.4(BRCA1):c.2345del (p.Ser782fs) rs1597870583
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2347_2348del (p.Ile783fs) rs1597870555
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter) rs55914168
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs) rs80357820
NM_007294.4(BRCA1):c.2359del (p.Glu787fs) rs80357739
NM_007294.4(BRCA1):c.2359dup (p.Glu787fs) rs80357739
NM_007294.4(BRCA1):c.2361del (p.Val788fs) rs886040028
NM_007294.4(BRCA1):c.2362del (p.Val788fs) rs876659136
NM_007294.4(BRCA1):c.237del (p.Phe79fs) rs886040030
NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer) rs876660305
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.4(BRCA1):c.2392_2393delinsA (p.Pro798fs) rs80357850
NM_007294.4(BRCA1):c.2393del (p.Pro798fs) rs80357850
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs) rs786202684
NM_007294.4(BRCA1):c.2402del (p.Cys801fs) rs876659447
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs) rs80357674
NM_007294.4(BRCA1):c.2407_2408del (p.Gln804fs) rs786202919
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2415T>A (p.Cys805Ter) rs1597870104
NM_007294.4(BRCA1):c.2415_2416del (p.Ala806fs)
NM_007294.4(BRCA1):c.2418del (p.Ala807fs) rs879255281
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2424del (p.Phe808fs) rs397507200
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2433dup (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter) rs80357186
NM_007294.4(BRCA1):c.2443del (p.Ile815fs) rs80357598
NM_007294.4(BRCA1):c.2450dup (p.Cys818fs)
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2474dup (p.Asp825fs) rs80357830
NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs) rs80357800
NM_007294.4(BRCA1):c.2477_2478insT (p.Glu827fs)
NM_007294.4(BRCA1):c.2481del (p.Gly828fs) rs886040042
NM_007294.4(BRCA1):c.2485_2486insAA (p.Phe829Ter)
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer) rs80357658
NM_007294.4(BRCA1):c.2487del (p.Phe829fs) rs80357658
NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter) rs1555589569
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs) rs483353078
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs) rs886040043
NM_007294.4(BRCA1):c.2500G>T (p.Gly834Ter) rs786202215
NM_007294.4(BRCA1):c.2504dup (p.His835fs) rs1555589513
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter) rs398122661
NM_007294.4(BRCA1):c.250_257dup (p.Leu87fs)
NM_007294.4(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs) rs397508974
NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter) rs876658552
NM_007294.4(BRCA1):c.2530del (p.Ser844fs)
NM_007294.4(BRCA1):c.2539del (p.Met847fs)
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter) rs80356951
NM_007294.4(BRCA1):c.2548del (p.Ser850fs) rs1555589434
NM_007294.4(BRCA1):c.2550_2551del (p.Ser850fs) rs1597869317
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs) rs80357968
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2567del (p.Tyr856fs) rs1597869157
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter) rs80356832
NM_007294.4(BRCA1):c.2579_2588del (p.Thr860fs)
NM_007294.4(BRCA1):c.2590del (p.Ser864fs)
NM_007294.4(BRCA1):c.2590dup (p.Ser864fs) rs1597868983
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) rs80357003
NM_007294.4(BRCA1):c.2593A>T (p.Lys865Ter) rs587782628
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2598_2601dup (p.Ser868fs)
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2599_2626del (p.Gln867fs)
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2606_2654del (p.Phe869fs)
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs) rs80357948
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs) rs397508986
NM_007294.4(BRCA1):c.2621del (p.Asn874fs) rs587781423
NM_007294.4(BRCA1):c.2630del (p.Asn877fs) rs886038002
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2637del (p.Glu880fs) rs886040056
NM_007294.4(BRCA1):c.2638G>T (p.Glu880Ter)
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter) rs397508988
NM_007294.4(BRCA1):c.2643del (p.Glu881fs) rs397508989
NM_007294.4(BRCA1):c.2649_2650del (p.Thr884fs) rs886040058
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs) rs886038003
NM_007294.4(BRCA1):c.2654del (p.Phe885fs) rs398122663
NM_007294.4(BRCA1):c.2654dup (p.Ser886fs) rs398122663
NM_007294.4(BRCA1):c.2657_2658del (p.Ser886fs) rs397508990
NM_007294.4(BRCA1):c.2666dup (p.Gly890fs) rs876660425
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2680A>T (p.Lys894Ter) rs876659457
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter) rs397508997
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs) rs80357636
NM_007294.4(BRCA1):c.2694del (p.Val899fs) rs80357549
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer) rs80357899
NM_007294.4(BRCA1):c.2704del (p.Glu902fs) rs886040064
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer) rs886040065
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) rs397509002
NM_007294.4(BRCA1):c.2717del (p.Lys906fs) rs876659072
NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter) rs876658593
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs) rs80357731
NM_007294.4(BRCA1):c.2719del (p.Glu907fs) rs879255481
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2726del (p.Asn909fs) rs80357614
NM_007294.4(BRCA1):c.2726dup (p.Asn909fs) rs80357614
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs) rs80357605
NM_007294.4(BRCA1):c.2728del (p.Gln910fs) rs397509005
NM_007294.4(BRCA1):c.273_274del (p.Ala92fs) rs587776485
NM_007294.4(BRCA1):c.273del (p.Cys91fs)
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter) rs80357419
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer) rs80357540
NM_007294.4(BRCA1):c.2745_2751dup (p.Lys918Ter)
NM_007294.4(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.4(BRCA1):c.2753_2755delinsCA (p.Lys918fs) rs886040069
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) rs80357377
NM_007294.4(BRCA1):c.2762del (p.Gln921fs) rs80357703
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs) rs80357822
NM_007294.4(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.4(BRCA1):c.2770_2792del (p.Asn924fs)
NM_007294.4(BRCA1):c.2771_2772insC (p.Ile925fs)
NM_007294.4(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930fs) rs886040073
NM_007294.4(BRCA1):c.2796del (p.Gly933fs) rs1555588942
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter) rs1555588915
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter) rs886037972
NM_007294.4(BRCA1):c.2814del (p.Val939fs) rs886040074
NM_007294.4(BRCA1):c.2817del (p.Asp940fs)
NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA (p.Asp940_Cys944delinsGluArgTer) rs1555588883
NM_007294.4(BRCA1):c.2831_2835del (p.Cys944fs)
NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter) rs80357458
NM_007294.4(BRCA1):c.2833del (p.Ser945fs)
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs) rs80357519
NM_007294.4(BRCA1):c.2837_2838delinsA (p.Ile946fs)
NM_007294.4(BRCA1):c.2839A>T (p.Lys947Ter) rs1597867344
NM_007294.4(BRCA1):c.283_286del (p.Leu95fs) rs1567811070
NM_007294.4(BRCA1):c.2845_2849del (p.Gly948_Gly949insTer)
NM_007294.4(BRCA1):c.2857del (p.Cys953fs) rs397509019
NM_007294.4(BRCA1):c.2861del (p.Leu954fs) rs1597867214
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter) rs80356973
NM_007294.4(BRCA1):c.2879del (p.Gly960fs)
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.287A>T (p.Asp96Val) rs864622444
NM_007294.4(BRCA1):c.2887del (p.Thr963fs) rs80357559
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs) rs80357890
NM_007294.4(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs) rs483353091
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.4(BRCA1):c.2907_2938delinsCATGGAC (p.Lys970fs)
NM_007294.4(BRCA1):c.2907del (p.Asn969fs) rs1597866816
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs) rs80357738
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs) rs878854940
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.2921del (p.Leu974fs) rs80357611
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter) rs80357497
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2934del (p.Arg979fs) rs80357741
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.2943del (p.Pro982fs)
NM_007294.4(BRCA1):c.2947del (p.Leu983fs) rs876659108
NM_007294.4(BRCA1):c.2951_2952del (p.Phe984fs) rs80357627
NM_007294.4(BRCA1):c.2952del (p.Ile986fs) rs80357627
NM_007294.4(BRCA1):c.2952dup (p.Pro985fs) rs80357627
NM_007294.4(BRCA1):c.2955del (p.Ile986fs) rs397509027
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs) rs1555588625
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs) rs886040088
NM_007294.4(BRCA1):c.2961del (p.Lys987fs)
NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter) rs397507206
NM_007294.4(BRCA1):c.2963C>G (p.Ser988Ter)
NM_007294.4(BRCA1):c.2970del (p.Thr992fs) rs886040089
NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs) rs397509030
NM_007294.4(BRCA1):c.297_300del (p.Leu99fs)
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer) rs397507207
NM_007294.4(BRCA1):c.2982T>A (p.Cys994Ter)
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) rs273899692
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs) rs80357991
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.3009dup (p.Glu1004Ter)
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs) rs80357937
NM_007294.4(BRCA1):c.3016del (p.His1006fs) rs2154347100
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter) rs80357168
NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter) rs273899696
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.4(BRCA1):c.3033_3034del (p.Glu1013fs) rs1567793163
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs) rs397507208
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter) rs80356936
NM_007294.4(BRCA1):c.3043G>T (p.Gly1015Ter)
NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs) rs80357746
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) rs80357004
NM_007294.4(BRCA1):c.3062del (p.Ser1021fs) rs1135401857
NM_007294.4(BRCA1):c.3064dup (p.Thr1022fs) rs1135401858
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer) rs786202906
NM_007294.4(BRCA1):c.3083del (p.Arg1028fs) rs1484076591
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.4(BRCA1):c.3091dup (p.Ile1031fs) rs1555588399
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.3103_3104del (p.Val1035fs) rs1555588392
NM_007294.4(BRCA1):c.3108del (p.Phe1036fs) rs80357841
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter) rs80357161
NM_007294.4(BRCA1):c.3113_3115delinsGA (p.Glu1038fs) rs1597865625
NM_007294.4(BRCA1):c.3136del (p.Glu1046fs)
NM_007294.4(BRCA1):c.3143del (p.Gly1048fs) rs886040100
NM_007294.4(BRCA1):c.3147_3279del (p.Ser1050fs)
NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter) rs786203587
NM_007294.4(BRCA1):c.3166del (p.Ser1056fs)
NM_007294.4(BRCA1):c.3176_3177del (p.Asn1059fs) rs2154338498
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.317del (p.Asn106fs) rs80357950
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer) rs80357702
NM_007294.4(BRCA1):c.3190del (p.Ser1064fs)
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter) rs1555588220
NM_007294.4(BRCA1):c.3203_3206del (p.Ile1068fs) rs886040102
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter) rs2053627043
NM_007294.4(BRCA1):c.3205del (p.Gln1069fs) rs886040103
NM_007294.4(BRCA1):c.3210del (p.Glu1071fs)
NM_007294.4(BRCA1):c.3214del (p.Glu1071_Leu1072insTer) rs80357923
NM_007294.4(BRCA1):c.321del (p.Phe107fs) rs80357544
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3231del (p.Pro1078fs)
NM_007294.4(BRCA1):c.3235A>T (p.Lys1079Ter)
NM_007294.4(BRCA1):c.323del (p.Ala108fs) rs1597897136
NM_007294.4(BRCA1):c.323delinsAA (p.Ala108fs)
NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs) rs80357517
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs) rs80357624
NM_007294.4(BRCA1):c.3255del (p.Arg1085fs) rs2053619372
NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3257_3258insTTGC (p.Leu1086fs) rs1555588074
NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer) rs80357858
NM_007294.4(BRCA1):c.3260_3261insCTA (p.Gly1087_Val1088insTer) rs1597864731
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter) rs80357402
NM_007294.4(BRCA1):c.3275_3276delinsT (p.Glu1092fs)
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter) rs886040111
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) rs80357485
NM_007294.4(BRCA1):c.3286_3289del (p.Gln1096fs) rs2154331547
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs) rs80357686
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs) rs80357686
NM_007294.4(BRCA1):c.328_329del (p.Lys110fs) rs80357604
NM_007294.4(BRCA1):c.3292_3293del (p.Leu1098fs) rs80357992
NM_007294.4(BRCA1):c.3294del (p.Pro1099fs) rs876658626
NM_007294.4(BRCA1):c.3296del (p.Pro1099fs) rs80357815
NM_007294.4(BRCA1):c.329_330del (p.Lys110fs) rs80357754
NM_007294.4(BRCA1):c.329del (p.Lys110fs) rs80357604
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.3301dup (p.Ser1101fs)
NM_007294.4(BRCA1):c.3302_3305del (p.Ser1101fs) rs1555587992
NM_007294.4(BRCA1):c.3304_3307del (p.Asn1102fs) rs1597864491
NM_007294.4(BRCA1):c.3317del (p.Pro1106fs) rs1555587972
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter) rs80357106
NM_007294.4(BRCA1):c.331G>T (p.Glu111Ter)
NM_007294.4(BRCA1):c.3323_3324del (p.Ile1108fs) rs786202791
NM_007294.4(BRCA1):c.3325_3329del (p.Lys1109fs) rs80357575
NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs) rs80357575
NM_007294.4(BRCA1):c.3327_3330del (p.Lys1109fs)
NM_007294.4(BRCA1):c.3329del (p.Lys1110fs) rs80357575
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs) rs80357575
NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter) rs80357089
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) rs80357966
NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs) rs1567792067
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter) rs397507215
NM_007294.4(BRCA1):c.3357del (p.Val1120fs) rs80357827
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs) rs80357843
NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer) rs2154323689
NM_007294.4(BRCA1):c.335_338del (p.Asn112fs) rs587782666
NM_007294.4(BRCA1):c.3362del (p.Asn1121fs) rs80357865
NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs) rs80357892
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs) rs80357828
NM_007294.4(BRCA1):c.3381T>A (p.Tyr1127Ter) rs781319410
NM_007294.4(BRCA1):c.3384_3391del (p.Leu1128_Ile1129insTer) rs886040122
NM_007294.4(BRCA1):c.3388del (p.Ser1130fs) rs886040123
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter) rs80357405
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs) rs80357577
NM_007294.4(BRCA1):c.3398T>A (p.Leu1133Ter) rs80356971
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) rs80357136
NM_007294.4(BRCA1):c.3424del (p.Ala1142fs) rs1555587718
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3440_3441del (p.Cys1146_Ser1147insTer) rs1597863644
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs) rs80357808
NM_007294.4(BRCA1):c.3455del (p.Asp1152fs) rs1597863566
NM_007294.4(BRCA1):c.3456_3475delinsTGTT (p.Leu1153fs)
NM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter) rs886040130
NM_007294.4(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) rs397509072
NM_007294.4(BRCA1):c.3475del (p.Glu1158_Ile1159insTer) rs1555587638
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.4(BRCA1):c.3478_3487del (p.Lys1160fs) rs786203694
NM_007294.4(BRCA1):c.3479dup (p.Glu1161fs) rs273899707
NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter) rs786203438
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3484del (p.Asp1162fs)
NM_007294.4(BRCA1):c.349dup (p.His117fs)
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter) rs730882164
NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter) rs397509079
NM_007294.4(BRCA1):c.3538del (p.Ser1180fs)
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter) rs80357296
NM_007294.4(BRCA1):c.3548_3552del (p.Lys1183fs) rs2154303812
NM_007294.4(BRCA1):c.3550G>T (p.Gly1184Ter)
NM_007294.4(BRCA1):c.3569del (p.Pro1190fs) rs1555587497
NM_007294.4(BRCA1):c.3578dup (p.Thr1194fs) rs397509083
NM_007294.4(BRCA1):c.3579_3580insT (p.Thr1194fs) rs587782824
NM_007294.4(BRCA1):c.3582_3589del (p.His1195fs) rs886040146
NM_007294.4(BRCA1):c.3590_3591dup (p.Leu1198fs)
NM_007294.4(BRCA1):c.3592_3593dup (p.Leu1198fs) rs80357562
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3599_3600del (p.Gln1200fs) rs398122674
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter) rs80357455
NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter) rs786203884
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer) rs80357571
NM_007294.4(BRCA1):c.3633del (p.Ser1212fs)
NM_007294.4(BRCA1):c.3637del (p.Glu1213fs) rs1555587365
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3640_3644del (p.Glu1214fs) rs1555587356
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs) rs80357805
NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter) rs397509091
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3658del (p.Asp1220fs) rs786202963
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.4(BRCA1):c.3665del (p.Glu1222fs) rs1567790674
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter) rs886040159
NM_007294.4(BRCA1):c.3679del (p.Gln1227fs) rs2154295200
NM_007294.4(BRCA1):c.367del (p.Ser123fs)
NM_007294.4(BRCA1):c.3683del (p.His1228fs) rs397507217
NM_007294.4(BRCA1):c.3689T>A (p.Leu1230Ter)
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.4(BRCA1):c.3706_3707del (p.Asn1236fs) rs80357666
NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs) rs80357552
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs) rs80357564
NM_007294.4(BRCA1):c.3711_3712del (p.Pro1238fs) rs1597861891
NM_007294.4(BRCA1):c.3713del (p.Pro1238fs)
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs) rs80359882
NM_007294.4(BRCA1):c.3734del (p.Ser1245fs) rs1597861739
NM_007294.4(BRCA1):c.3747dup (p.Glu1250fs) rs1555587185
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) rs80357687
NM_007294.4(BRCA1):c.3760A>T (p.Lys1254Ter)
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs) rs80357928
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs) rs80357848
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs) rs730881440
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs) rs397507218
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter) rs397509105
NM_007294.4(BRCA1):c.3779T>G (p.Leu1260Ter) rs886038025
NM_007294.4(BRCA1):c.3779del (p.Leu1260fs) rs80357798
NM_007294.4(BRCA1):c.3782T>A (p.Leu1261Ter) rs397507219
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs) rs80357545
NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter) rs80357269
NM_007294.4(BRCA1):c.3791del (p.Lys1264fs) rs1567790067
NM_007294.4(BRCA1):c.3792dup (p.Asn1265fs)
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs) rs80357530
NM_007294.4(BRCA1):c.3810C>A (p.Cys1270Ter) rs886040166
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3825del (p.Leu1276fs) rs1555586983
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs) rs1135401868
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer) rs273900717
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.3844G>T (p.Glu1282Ter)
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs) rs80357842
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter) rs80357254
NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs) rs80357918
NM_007294.4(BRCA1):c.3870_3877del (p.Lys1290fs) rs1555586879
NM_007294.4(BRCA1):c.3870del (p.Lys1290fs)
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs) rs587780802
NM_007294.4(BRCA1):c.3882del (p.Leu1295fs) rs2053505662
NM_007294.4(BRCA1):c.3888_3889del (p.Ser1297fs) rs886038027
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) rs1064793054
NM_007294.4(BRCA1):c.3900C>A (p.Cys1300Ter)
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer) rs80357646
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter) rs80357461
NM_007294.4(BRCA1):c.3908dup (p.Leu1303fs) rs80357634
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter) rs80356888
NM_007294.4(BRCA1):c.3910G>T (p.Glu1304Ter) rs886038028
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter) rs80357207
NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs) rs80357864
NM_007294.4(BRCA1):c.3931_3934dup (p.Thr1312fs) rs80357864
NM_007294.4(BRCA1):c.3935_3938del (p.Thr1312fs)
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.4(BRCA1):c.3954dup (p.Gly1319fs) rs1135401870
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.3967del (p.Gln1323fs) rs397509122
NM_007294.4(BRCA1):c.3968_3971del (p.Gln1323fs) rs886040181
NM_007294.4(BRCA1):c.3969_3970del (p.Gln1323fs) rs587782834
NM_007294.4(BRCA1):c.3973del (p.Arg1325fs) rs80357904
NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter) rs876659720
NM_007294.4(BRCA1):c.3979del (p.Gln1327fs)
NM_007294.4(BRCA1):c.3980del (p.Gln1327fs)
NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter) rs397507224
NM_007294.4(BRCA1):c.3995_4001del (p.Gly1332fs) rs886040185
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4002_4004delinsGC (p.Leu1335fs)
NM_007294.4(BRCA1):c.4008dup (p.Asp1337Ter) rs2053486046
NM_007294.4(BRCA1):c.4012A>T (p.Lys1338Ter)
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter) rs80357021
NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs) rs886040187
NM_007294.4(BRCA1):c.4019T>A (p.Leu1340Ter) rs2053483708
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4038_4041del (p.Arg1347fs) rs431825404
NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter) rs28897689
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter) rs879255485
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4052T>A (p.Leu1351Ter) rs397509132
NM_007294.4(BRCA1):c.4052_4053insA (p.Glu1352fs)
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4054del (p.Glu1352fs)
NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter) rs80357178
NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer) rs397509133
NM_007294.4(BRCA1):c.4061_4064del (p.Asn1354fs) rs1597859595
NM_007294.4(BRCA1):c.4061dup (p.Asn1354fs)
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter) rs886040193
NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter) rs886040195
NM_007294.4(BRCA1):c.406del (p.Arg136fs) rs80357709
NM_007294.4(BRCA1):c.406dup (p.Arg136fs) rs80357709
NM_007294.4(BRCA1):c.4071del (p.Glu1358fs) rs886040197
NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter) rs397509136
NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter) rs80357456
NM_007294.4(BRCA1):c.4075_4085dup (p.Ser1363fs)
NM_007294.4(BRCA1):c.4088C>A (p.Ser1363Ter) rs398122680
NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter) rs398122680
NM_007294.4(BRCA1):c.4099G>T (p.Glu1367Ter) rs786202998
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer) rs80357804
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs) rs398122682
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.4(BRCA1):c.4119del (p.Ser1374fs)
NM_007294.4(BRCA1):c.411dup (p.Leu138fs) rs886040205
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4122_4123del (p.Ser1374fs) rs80357691
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter) rs80357397
NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs) rs80357921
NM_007294.4(BRCA1):c.4132del (p.Val1378fs)
NM_007294.4(BRCA1):c.4136_4137del (p.Val1378_Ser1379insTer) rs397509141
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter) rs80357071
NM_007294.4(BRCA1):c.4152del (p.Leu1385fs)
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs) rs397509142
NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter) rs80357372
NM_007294.4(BRCA1):c.415_416del (p.Gln139fs)
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs) rs80357565
NM_007294.4(BRCA1):c.4161_4162dup (p.Gln1388fs) rs80357565
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter) rs876660601
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.416dup (p.Ser140fs) rs786203432
NM_007294.4(BRCA1):c.4175del (p.Ile1391_Leu1392insTer) rs886040211
NM_007294.4(BRCA1):c.4182_4183dup (p.Gln1395fs) rs80357742
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185+1G>A rs80358076
NM_007294.4(BRCA1):c.4185+1G>T rs80358076
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) rs80356857
NM_007294.4(BRCA1):c.4186-1676_4484+839dup
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter) rs80357011
NM_007294.4(BRCA1):c.4191_4213dup (p.Ile1405delinsArgIleProCysAsnIleThrTer)
NM_007294.4(BRCA1):c.4192del (p.Asp1398fs)
NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs) rs80357649
NM_007294.4(BRCA1):c.4195del (p.Thr1399fs) rs1567783654
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter) rs397509151
NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer) rs80357765
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter) rs886040218
NM_007294.4(BRCA1):c.4250del (p.Val1417fs) rs587782879
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs) rs80357977
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.4266del (p.Ser1423fs) rs397509158
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4282del (p.Ser1428fs) rs1555584125
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs) rs80357790
NM_007294.4(BRCA1):c.4308_4309del (p.Ser1437fs) rs2154149764
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs) rs80357748
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs) rs80357748
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs) rs397509164
NM_007294.4(BRCA1):c.4348dup (p.Ser1450fs) rs80357548
NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter) rs398122685
NM_007294.4(BRCA1):c.4357+1G>C rs80358027
NM_007294.4(BRCA1):c.4357+1G>T rs80358027
NM_007294.4(BRCA1):c.4357+1del rs397509165
NM_007294.4(BRCA1):c.4357+2T>G rs80358152
NM_007294.4(BRCA1):c.4358-1746_4986+736dup
NM_007294.4(BRCA1):c.4359del (p.Val1454fs)
NM_007294.4(BRCA1):c.4364del (p.Val1454_Leu1455insTer)
NM_007294.4(BRCA1):c.4365_4369del (p.Leu1455fs)
NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter) rs80357130
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.4(BRCA1):c.4379del (p.Ser1460fs) rs786203149
NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter) rs1567779838
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.4(BRCA1):c.4387del (p.Tyr1463fs) rs397507229
NM_007294.4(BRCA1):c.4387dup (p.Tyr1463fs)
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.4(BRCA1):c.4389C>G (p.Tyr1463Ter) rs80356997
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) rs1064793577
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4400_4418delinsTTT (p.Gln1467fs) rs876659310
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs) rs587781611
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter) rs886040230
NM_007294.4(BRCA1):c.441+1729_547+704dup
NM_007294.4(BRCA1):c.4410dup (p.Gly1471fs) rs1597839379
NM_007294.4(BRCA1):c.4416_4417delinsG (p.Ser1473fs) rs397509174
NM_007294.4(BRCA1):c.442-22_442-13del rs879254224
NM_007294.4(BRCA1):c.4432G>T (p.Glu1478Ter) rs876659878
NM_007294.4(BRCA1):c.4467dup (p.Glu1490fs)
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-1G>T rs80358189
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4486del (p.Ser1496fs) rs1555582082
NM_007294.4(BRCA1):c.4505del (p.Pro1502fs) rs1555582069
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4527C>G (p.Tyr1509Ter)
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs) rs80357534
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter) rs80356881
NM_007294.4(BRCA1):c.4562del (p.Asn1521fs)
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs) rs80357882
NM_007294.4(BRCA1):c.456del (p.Ser153fs) rs876659830
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4595_4596insCT (p.Asp1533fs) rs80357699
NM_007294.4(BRCA1):c.45del (p.Asn16fs) rs730881457
NM_007294.4(BRCA1):c.45dup (p.Asn16Ter) rs730881457
NM_007294.4(BRCA1):c.4608del (p.Glu1536fs)
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.4(BRCA1):c.4616dup (p.Glu1540fs) rs1555581874
NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter) rs80357277
NM_007294.4(BRCA1):c.4622_4623del (p.Glu1541fs) rs886040241
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter) rs80357180
NM_007294.4(BRCA1):c.463dup (p.Gln155fs)
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs) rs2153992821
NM_007294.4(BRCA1):c.4650del (p.Ser1551fs)
NM_007294.4(BRCA1):c.4654_4673del (p.Tyr1552fs) rs876659293
NM_007294.4(BRCA1):c.4654del (p.Tyr1552fs) rs2153991069
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4655dup (p.Tyr1552Ter) rs587782143
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter) rs80357151
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs) rs2052588740
NM_007294.4(BRCA1):c.465del (p.Gln155fs) rs1555594954
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter) rs1555581812
NM_007294.4(BRCA1):c.4672del (p.Asp1557_Leu1558insTer) rs1597835688
NM_007294.4(BRCA1):c.4674dup (p.Glu1559fs) rs2052585246
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4675+1G>T rs80358044
NM_007294.4(BRCA1):c.4675+2T>C rs879255293
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter) rs80357349
NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs) rs1555581104
NM_007294.4(BRCA1):c.4690del (p.Leu1564fs)
NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs) rs1597831850
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4710_4740dup (p.Glu1581delinsLeuLeuTer) rs2153881466
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.4715_4716del (p.Phe1571_Ser1572insTer) rs2153889881
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs) rs397509191
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs) rs80357907
NM_007294.4(BRCA1):c.474_493dup (p.Leu165delinsProLeuGluLeuTer)
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter) rs397509195
NM_007294.4(BRCA1):c.4775_4779delinsC (p.Asn1592fs) rs397507237
NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter) rs80357429
NM_007294.4(BRCA1):c.4799dup (p.Leu1600fs) rs587782392
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.4803del (p.Val1602fs) rs1555580912
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter) rs80357352
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs) rs1555580900
NM_007294.4(BRCA1):c.4825G>T (p.Glu1609Ter)
NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs) rs1555580854
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter) rs786202064
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs) rs1555580840
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.4(BRCA1):c.485_486del (p.Val162fs) rs80357708
NM_007294.4(BRCA1):c.485dup (p.Arg163fs) rs587781427
NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs) rs1555580773
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter) rs886040251
NM_007294.4(BRCA1):c.4875T>G (p.Tyr1625Ter)
NM_007294.4(BRCA1):c.4883_4890del (p.Met1628fs)
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter) rs1173155015
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs) rs1555580697
NM_007294.4(BRCA1):c.4903dup (p.Glu1635fs) rs1555580697
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs) rs397509204
NM_007294.4(BRCA1):c.4912G>T (p.Glu1638Ter) rs2052380758
NM_007294.4(BRCA1):c.4929del (p.Glu1644fs)
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter) rs397509205
NM_007294.4(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter) rs747694453
NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs) rs397509207
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.4(BRCA1):c.494dup (p.Arg166fs) rs80357762
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.496del (p.Arg166fs)
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter) rs80357401
NM_007294.4(BRCA1):c.4986+2T>A rs397509210
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>C rs80358087
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1352A>G rs2153749819
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.4987-1G>C rs730881495
NM_007294.4(BRCA1):c.4987-3C>G rs397509213
NM_007294.4(BRCA1):c.4992dup (p.Val1665fs)
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter) rs730882165
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter) rs80357204
NM_007294.4(BRCA1):c.49_50insT (p.Ala17fs)
NM_007294.4(BRCA1):c.500_503del (p.Thr167fs) rs1597887869
NM_007294.4(BRCA1):c.5027T>G (p.Leu1676Ter) rs786203754
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) rs80357623
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5044del (p.Glu1682fs)
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)
NM_007294.4(BRCA1):c.5052_5053dup (p.Thr1685fs) rs1597825743
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5059del (p.Val1687fs) rs1555579633
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter) rs397507239
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5074+1G>C rs80358053
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074+872_5193+2569dup
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-1G>C rs1800747
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.4(BRCA1):c.5080del (p.Glu1694fs) rs1555578650
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs) rs80357710
NM_007294.4(BRCA1):c.5091_5092dup (p.Glu1698fs)
NM_007294.4(BRCA1):c.5091del (p.Cys1697fs) rs1135401882
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala) rs397509227
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs) rs80357553
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5112del (p.Phe1704_Leu1705insTer) rs397509228
NM_007294.4(BRCA1):c.5113_5121delinsA (p.Leu1705fs)
NM_007294.4(BRCA1):c.5116G>T (p.Gly1706Ter) rs886040864
NM_007294.4(BRCA1):c.5117del (p.Gly1706fs)
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5126del (p.Gly1709fs) rs80357874
NM_007294.4(BRCA1):c.512dup (p.Gln172fs) rs587781487
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter) rs876658672
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5137dup (p.Val1713fs) rs80357997
NM_007294.4(BRCA1):c.5138T>G (p.Val1713Gly) rs80357132
NM_007294.4(BRCA1):c.5138_5139delinsGG (p.Val1713Gly)
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+1G>A rs80358094
NM_007294.4(BRCA1):c.5152+1G>C rs80358094
NM_007294.4(BRCA1):c.5152+1G>T rs80358094
NM_007294.4(BRCA1):c.5152+2T>C rs886040914
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5152+6T>G rs80358074
NM_007294.4(BRCA1):c.5153-19_5160del
NM_007294.4(BRCA1):c.5153-1G>A rs80358137
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter) rs41293461
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5155dup rs80357743
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) rs878854957
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5176del (p.Arg1726fs) rs876658478
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.4(BRCA1):c.5182del (p.Met1728fs) rs34570933
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter) rs397507244
NM_007294.4(BRCA1):c.5193+1G>A rs80358004
NM_007294.4(BRCA1):c.5193+1G>C rs80358004
NM_007294.4(BRCA1):c.5193+1G>T rs80358004
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5193+2del rs273901751
NM_007294.4(BRCA1):c.5193+2dup
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5194-1G>T rs80358173
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) rs80356957
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys) rs397509237
NM_007294.4(BRCA1):c.5202del (p.Phe1734fs) rs876659867
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5209_5248delinsTC (p.Arg1737fs) rs273901753
NM_007294.4(BRCA1):c.520del (p.Gln174fs) rs80357639
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5212G>C (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213_5278-2753delinsT
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5223del (p.Asn1742fs) rs1597810843
NM_007294.4(BRCA1):c.5230del (p.Arg1744fs) rs397509240
NM_007294.4(BRCA1):c.5234dup (p.Asn1745fs) rs886038042
NM_007294.4(BRCA1):c.5236del (p.His1746fs) rs876659483
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5249dup (p.Arg1751fs) rs879253993
NM_007294.4(BRCA1):c.5250del (p.Lys1750fs) rs1555576868
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.4(BRCA1):c.5255C>A (p.Ala1752Glu) rs80357028
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter) rs80357432
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5269_5273del (p.Asp1757fs) rs786202040
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5277+1G>T rs80358150
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5278-1G>A rs80358099
NM_007294.4(BRCA1):c.5278-1G>T rs80358099
NM_007294.4(BRCA1):c.5278-2A>G rs397509253
NM_007294.4(BRCA1):c.5289del (p.Gly1763_Leu1764insTer) rs80357886
NM_007294.4(BRCA1):c.5289dup (p.Leu1764fs) rs80357886
NM_007294.4(BRCA1):c.5290del (p.Gly1763_Leu1764insTer) rs2051210433
NM_007294.4(BRCA1):c.5296dup (p.Ile1766fs) rs1555575732
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs) rs886040289
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter) rs397509258
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs) rs80357581
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.4(BRCA1):c.5328del (p.Thr1777fs) rs80357751
NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs) rs80357751
NM_007294.4(BRCA1):c.5332+1G>A rs80358041
NM_007294.4(BRCA1):c.5332+1G>C rs80358041
NM_007294.4(BRCA1):c.5332+2T>C rs80358182
NM_007294.4(BRCA1):c.5333-1G>A rs80358126
NM_007294.4(BRCA1):c.5333-1G>C rs80358126
NM_007294.4(BRCA1):c.5333-1G>T rs80358126
NM_007294.4(BRCA1):c.5333-2A>G rs397509264
NM_007294.4(BRCA1):c.5333-2A>T rs397509264
NM_007294.4(BRCA1):c.5333-36_5406+400del rs1555574977
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter) rs397509267
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter) rs80357219
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5350del (p.Val1784fs) rs2051091746
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.4(BRCA1):c.5353_5354dup (p.Gln1785fs) rs886040293
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.4(BRCA1):c.5361_5362del (p.Cys1787fs) rs886040294
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter) rs879255492
NM_007294.4(BRCA1):c.5406+1G>A rs80358028
NM_007294.4(BRCA1):c.5406+2T>A rs2051071309
NM_007294.4(BRCA1):c.5406+4A>G rs397509279
NM_007294.4(BRCA1):c.5406+5G>C rs80358073
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) rs80357934
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5432_5439del (p.Gln1811fs)
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs) rs1057517637
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) rs397509284
NM_007294.4(BRCA1):c.5449G>T (p.Glu1817Ter) rs80356868
NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs) rs397509286
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5467+1_5467+16del rs2152760370
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.5467G>T (p.Ala1823Ser) rs80357212
NM_007294.4(BRCA1):c.5468-1G>A rs80358048
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_007294.4(BRCA1):c.5470_5477del rs80357973
NM_007294.4(BRCA1):c.5474_5481del (p.Gly1825fs) rs730881441
NM_007294.4(BRCA1):c.5476del (p.Gln1826fs) rs2152575457
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs) rs80357757
NM_007294.4(BRCA1):c.5490del (p.Pro1831fs) rs80357976
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs) rs80357582
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs) rs273902775
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) rs80357307
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) rs80356914
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5512del (p.Val1838fs) rs80357839
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs) rs1597796956
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs) rs80357721
NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs) rs397509294
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs) rs1060505048
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter) rs886040303
NM_007294.4(BRCA1):c.5549delinsCA (p.Leu1850fs)
NM_007294.4(BRCA1):c.5554_5558del (p.Thr1852fs) rs1597796682
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter) rs80357336
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.671-1G>A rs80358020
NM_007294.4(BRCA1):c.671-2A>C rs80358108
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter) rs879255319
NM_007294.4(BRCA1):c.67G>T (p.Glu23Ter) rs372047427
NM_007294.4(BRCA1):c.67del (p.Glu23fs)
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter) rs1555593310
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) rs886040308
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_007294.4(BRCA1):c.700del (p.Thr234fs)
NM_007294.4(BRCA1):c.706dup (p.Thr236fs) rs1555593279
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser) rs80357410
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly) rs80357410
NM_007294.4(BRCA1):c.715del (p.His239fs) rs879255294
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter) rs886040313
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr) rs80357198
NM_007294.4(BRCA1):c.726del (p.Ser242fs)
NM_007294.4(BRCA1):c.738dup (p.Asn247fs) rs1597880292
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.754del (p.Arg252fs) rs1555593195
NM_007294.4(BRCA1):c.75del (p.Ile26fs) rs80357633
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter) rs80357009
NM_007294.4(BRCA1):c.778A>T (p.Lys260Ter) rs786202263
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter) rs80357321
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter) rs886037979
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs) rs80357955
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.799dup (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.80+1G>C rs80358010
NM_007294.4(BRCA1):c.80+2T>G rs80358128
NM_007294.4(BRCA1):c.80+4A>T rs80358003
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.80+5G>T rs80358045
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter) rs80357392
NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)
NM_007294.4(BRCA1):c.81-1794_134+629dup
NM_007294.4(BRCA1):c.81-1G>A rs80358018
NM_007294.4(BRCA1):c.81-1G>C rs80358018
NM_007294.4(BRCA1):c.81-1G>T rs80358018
NM_007294.4(BRCA1):c.81-2A>G rs397509326
NM_007294.4(BRCA1):c.81-2del rs273902791
NM_007294.4(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter) rs886040321
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.824_833dup (p.Ala280fs)
NM_007294.4(BRCA1):c.825_828delinsAAT (p.Thr276fs) rs1555593020
NM_007294.4(BRCA1):c.832dup (p.Thr278fs) rs886040325
NM_007294.4(BRCA1):c.835del (p.His279fs) rs80357523
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs) rs80357728
NM_007294.4(BRCA1):c.83del (p.Leu28fs) rs1555599281
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007294.4(BRCA1):c.848delinsGGCAA (p.Leu283fs)
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) rs397509330
NM_007294.4(BRCA1):c.851_852del (p.Gln284fs) rs80357719
NM_007294.4(BRCA1):c.851dup (p.His285fs)
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter) rs730881468
NM_007294.4(BRCA1):c.870_871insAC (p.Leu291fs)
NM_007294.4(BRCA1):c.875del (p.Leu292fs) rs886037981
NM_007294.4(BRCA1):c.886del (p.Arg296fs) rs869320786
NM_007294.4(BRCA1):c.891_896delinsTC (p.Met297fs) rs1064793967
NM_007294.4(BRCA1):c.892_895dup (p.Val299fs) rs80357806
NM_007294.4(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter) rs397509331
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter) rs397509332
NM_007294.4(BRCA1):c.901_902del (p.Lys301fs)
NM_007294.4(BRCA1):c.904del (p.Ala302fs) rs273903793
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) rs397509335
NM_007294.4(BRCA1):c.923del (p.Ser308fs) rs80357953
NM_007294.4(BRCA1):c.924del (p.Ser308fs) rs397509336
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter) rs397509338
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.4(BRCA1):c.930del (p.Gln310fs) rs80357689
NM_007294.4(BRCA1):c.931_934dup (p.Gly312fs) rs1597879048
NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer) rs398122709
NM_007294.4(BRCA1):c.943del (p.Arg315fs)
NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter) rs80357211
NM_007294.4(BRCA1):c.951del (p.Gln317fs) rs1555592776
NM_007294.4(BRCA1):c.952_1015del (p.His318fs) rs80359872
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter) rs886040335
NM_007294.4(BRCA1):c.964del (p.Ala322fs) rs273903794
NM_007294.4(BRCA1):c.979del (p.Thr327fs) rs886040337
NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter) rs80357066
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs) rs80357775
NM_007294.4(BRCA1):c.998_1010del (p.Thr333fs) rs1555592676
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter) rs2147383715
NM_007325.5(GRIA3):c.1266del (p.Arg423fs)
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg) rs1554770046
NM_007327.4(GRIN1):c.1958C>G (p.Ala653Gly) rs1554770258
NM_007327.4(GRIN1):c.2414del (p.Pro805fs) rs766786160
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) rs797044925
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_007363.5(NONO):c.550C>T (p.Arg184Ter) rs1602387702
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012123.4(MTO1):c.1592T>G (p.Leu531Ter)
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.939-2A>G
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_012144.4(DNAI1):c.342del (p.Ser115fs)
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) rs2072680461
NM_012233.3(RAB3GAP1):c.1388_1389del (p.Cys463fs) rs1282248700
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012280.4(FTSJ1):c.133del (p.Ala45fs)
NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn) rs797044864
NM_012280.4(FTSJ1):c.352del (p.Ala118fs)
NM_012281.3(KCND2):c.1210G>A (p.Val404Met) rs587777631
NM_012330.4(KAT6B):c.2616del (p.Leu873fs)
NM_012330.4(KAT6B):c.3264dup (p.Glu1089fs) rs869312962
NM_012330.4(KAT6B):c.3373-2A>C
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.4102dup (p.Glu1368fs) rs1554845598
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4726_4729dup (p.Arg1577fs) rs1846150514
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
NM_012398.3(PIP5K1C):c.662A>G (p.Tyr221Cys) rs991616868
NM_012414.4(RAB3GAP2):c.2213-1G>A rs1553275644
NM_012434.5(SLC17A5):c.903C>A (p.Tyr301Ter)
NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)
NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter)
NM_012472.6(DNAAF11):c.630del (p.Trp210fs) rs760123202
NM_012472.6(DNAAF11):c.738_745dup (p.Phe249fs)
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs) rs1586586381
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_012479.4(YWHAG):c.170G>A (p.Arg57His) rs2115589045
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013275.6(ANKRD11):c.1355del (p.Asn452fs) rs1597465118
NM_013275.6(ANKRD11):c.1356_1359del (p.Asn452fs)
NM_013275.6(ANKRD11):c.1381_1382del (p.Glu461fs) rs1555529734
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1389del (p.Gly464fs) rs1555529726
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1623_1630del (p.His542fs) rs1555529572
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2090_2091del (p.Glu697fs)
NM_013275.6(ANKRD11):c.2130G>A (p.Trp710Ter) rs1555529297
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2494del (p.Ser832fs) rs1555529052
NM_013275.6(ANKRD11):c.2518del (p.Arg840fs) rs2034470669
NM_013275.6(ANKRD11):c.2611_2621del (p.Asp871fs)
NM_013275.6(ANKRD11):c.2750_2751del (p.Asn916_Ser917insTer)
NM_013275.6(ANKRD11):c.2751_2752del (p.Lys919fs)
NM_013275.6(ANKRD11):c.2982dup (p.Lys995fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3085A>T (p.Lys1029Ter)
NM_013275.6(ANKRD11):c.3138T>A (p.Cys1046Ter) rs1567574466
NM_013275.6(ANKRD11):c.3208_3209del (p.His1070fs) rs2034416782
NM_013275.6(ANKRD11):c.3244C>T (p.Gln1082Ter) rs2034413419
NM_013275.6(ANKRD11):c.3334dup (p.Ser1112fs) rs1555528558
NM_013275.6(ANKRD11):c.3594del (p.Glu1199fs)
NM_013275.6(ANKRD11):c.3702_3705del (p.Lys1235fs) rs1555528357
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3910_3911dup (p.Ser1305fs)
NM_013275.6(ANKRD11):c.4091_4092del (p.Glu1364fs) rs2034338452
NM_013275.6(ANKRD11):c.4114G>T (p.Glu1372Ter) rs146474985
NM_013275.6(ANKRD11):c.4140C>G (p.Tyr1380Ter) rs1555528040
NM_013275.6(ANKRD11):c.4189del (p.Leu1397fs)
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.4585A>T (p.Lys1529Ter)
NM_013275.6(ANKRD11):c.4619_4620del (p.Lys1540fs)
NM_013275.6(ANKRD11):c.4902del (p.Leu1635fs) rs1555527497
NM_013275.6(ANKRD11):c.5149G>T (p.Glu1717Ter)
NM_013275.6(ANKRD11):c.5537del (p.Leu1846fs) rs1555526796
NM_013275.6(ANKRD11):c.5739_5766del (p.Glu1915fs)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6911_6936del (p.Glu2304fs)
NM_013275.6(ANKRD11):c.7244_7247del (p.Leu2415fs)
NM_013275.6(ANKRD11):c.7303del (p.Ala2435fs) rs1555524870
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_013275.6(ANKRD11):c.7470+2dup
NM_013275.6(ANKRD11):c.7487_7490dup (p.Ala2498fs)
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900
NM_013296.5(GPSM2):c.485del (p.Pro162fs) rs766556930
NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer) rs1781476734
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013432.5(TONSL):c.1127del (p.Glu376fs)
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014112.5(TRPS1):c.1088T>G (p.Leu363Ter) rs1554596397
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.2725del (p.Cys909fs)
NM_014112.5(TRPS1):c.3203dup (p.Ser1069fs) rs1812870694
NM_014112.5(TRPS1):c.3527dup (p.Leu1177fs) rs1812861396
NM_014141.6(CNTNAP2):c.1315_1316del (p.Gln439fs)
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter) rs1159246607
NM_014141.6(CNTNAP2):c.3408C>A (p.Tyr1136Ter) rs144003099
NM_014141.6(CNTNAP2):c.3556dup (p.Gln1186fs) rs772883080
NM_014159.6(SETD2):c.4457_4460del rs1553699115
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) rs1575817869
NM_014159.7(SETD2):c.1828_1829del (p.Glu610fs) rs2043155739
NM_014159.7(SETD2):c.3199C>T (p.Gln1067Ter)
NM_014159.7(SETD2):c.3439C>T (p.Gln1147Ter)
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.7350+1G>A
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014252.4(SLC25A15):c.81del (p.Gln28fs)
NM_014319.5(LEMD3):c.460del (p.Ala154fs)
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014362.4(HIBCH):c.595G>T (p.Gly199Ter) rs755786597
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.3059dup (p.Ser1021fs) rs1869136727
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.6155C>G (p.Ser2052Ter)
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014384.3(ACAD8):c.1176G>T (p.Arg392Ser)
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014491.4(FOXP2):c.1031del (p.Gly344fs) rs1805777437
NM_014491.4(FOXP2):c.1127_1128insT (p.Ser377fs)
NM_014491.4(FOXP2):c.197T>G (p.Leu66Ter) rs1554412300
NM_014491.4(FOXP2):c.502C>T (p.Gln168Ter) rs1563045683
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
NM_014495.4(ANGPTL3):c.950dup (p.Glu318fs)
NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)
NM_014516.4(CNOT3):c.1032dup (p.Ala345fs) rs2074797352
NM_014516.4(CNOT3):c.1440dup (p.Gly481fs) rs1555806893
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896
NM_014516.4(CNOT3):c.76dup (p.Glu26fs)
NM_014633.5(CTR9):c.74C>G (p.Pro25Arg) rs2135353126
NM_014712.3(SETD1A):c.1381dup (p.Arg461fs)
NM_014712.3(SETD1A):c.154_155del (p.Ser52fs)
NM_014712.3(SETD1A):c.2002C>T (p.Arg668Ter)
NM_014712.3(SETD1A):c.214del (p.Arg72fs) rs1555488653
NM_014712.3(SETD1A):c.3171del (p.Ser1058fs)
NM_014727.3(KMT2B):c.1127_1130del (p.Lys376fs) rs1969141028
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.2425C>T (p.Gln809Ter) rs1555729045
NM_014727.3(KMT2B):c.3145dup (p.Ala1049fs) rs1969316263
NM_014727.3(KMT2B):c.3400C>T (p.Gln1134Ter) rs1555730069
NM_014727.3(KMT2B):c.4053_4063del (p.Glu1351fs)
NM_014727.3(KMT2B):c.5724_5751del (p.Pro1909fs) rs1555732564
NM_014727.3(KMT2B):c.6245_6266dup (p.Val2090fs) rs1555732987
NM_014727.3(KMT2B):c.6552dup (p.Lys2185fs)
NM_014727.3(KMT2B):c.7513_7514del (p.Asn2505fs)
NM_014727.3(KMT2B):c.7759C>T (p.Arg2587Ter) rs1555734923
NM_014738.6(TMEM94):c.2215C>T (p.Arg739Ter)
NM_014738.6(TMEM94):c.3433dup (p.His1145fs)
NM_014738.6(TMEM94):c.790C>T (p.Arg264Ter)
NM_014780.5(CUL7):c.2660+1G>C rs765870874
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter) rs1553961702
NM_014795.4(ZEB2):c.1537del (p.Leu513fs) rs1553961697
NM_014795.4(ZEB2):c.175G>T (p.Glu59Ter)
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.2102C>A (p.Ser701Ter) rs1703271038
NM_014795.4(ZEB2):c.2609C>A (p.Ser870Ter) rs1553961516
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.3147del (p.Ser1050fs) rs1703134890
NM_014795.4(ZEB2):c.362_363dup (p.Pro122fs)
NM_014795.4(ZEB2):c.637_640dup (p.Pro214fs)
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.909_910insTTTC (p.His304fs) rs1703305657
NM_014795.4(ZEB2):c.916+1G>A
NM_014804.3(KIAA0753):c.757C>T (p.Arg253Ter)
NM_014804.3(KIAA0753):c.799C>T (p.Arg267Ter)
NM_014844.5(TECPR2):c.524_527delinsACTGGATTATAGCCA (p.Ile175fs)
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter) rs1586390087
NM_014846.4(WASHC5):c.2439del (p.Val814fs)
NM_014865.4(NCAPD2):c.1384del (p.Ala462fs)
NM_014874.4(MFN2):c.1612C>T (p.Gln538Ter)
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter) rs2100856157
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.674_680del (p.Leu225fs) rs1060501915
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.4(DOLK):c.734_737del (p.Phe245fs)
NM_014918.5(CHSY1):c.1423C>T (p.Gln475Ter) rs1555492492
NM_014921.5(ADGRL1):c.2567C>A (p.Ser856Ter)
NM_014921.5(ADGRL1):c.3414_3415del (p.Gly1139fs)
NM_014921.5(ADGRL1):c.614_615insGTTG (p.Val206fs)
NM_014927.5(CNKSR2):c.2250_2256del (p.Gly751fs)
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter) rs1752233376
NM_014991.6(WDFY3):c.2883del (p.Lys961fs)
NM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter)
NM_014991.6(WDFY3):c.5593C>T (p.Arg1865Ter)
NM_014991.6(WDFY3):c.7949_7950del (p.Lys2650fs)
NM_014991.6(WDFY3):c.9597del (p.Asn3200fs)
NM_015001.3(SPEN):c.3721C>T (p.Arg1241Ter)
NM_015001.3(SPEN):c.373C>T (p.Arg125Ter)
NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter) rs2071205857
NM_015001.3(SPEN):c.3976del (p.Lys1325_Ile1326insTer) rs2071207771
NM_015001.3(SPEN):c.5021_5022del (p.Val1674fs)
NM_015001.3(SPEN):c.6061del (p.Gln2020_Ile2021insTer)
NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs) rs2071236139
NM_015001.3(SPEN):c.6641del (p.Glu2214fs)
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs) rs2071239657
NM_015001.3(SPEN):c.8732del (p.Lys2911fs)
NM_015021.3(ZNF292):c.2605dup (p.Arg869fs)
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) rs1775285095
NM_015021.3(ZNF292):c.3990del (p.Phe1330fs)
NM_015021.3(ZNF292):c.433del (p.Ser145fs) rs1772907934
NM_015021.3(ZNF292):c.4837C>T (p.Gln1613Ter)
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015021.3(ZNF292):c.5950_5956del (p.Ile1984fs)
NM_015021.3(ZNF292):c.6001C>T (p.Arg2001Ter)
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015030.2(FRYL):c.1987-1G>A
NM_015046.7(SETX):c.3399dup (p.Gly1134fs) rs1554820931
NM_015046.7(SETX):c.5820del (p.Ala1941fs)
NM_015046.7(SETX):c.6421_6422del (p.Gln2141fs)
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.900del (p.Gly301fs) rs1554822175
NM_015047.3(EMC1):c.2377-2A>G rs2093442517
NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) rs1779473650
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1807dup (p.Ser603fs)
NM_015100.4(POGZ):c.2020del (p.Arg674fs)
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)
NM_015100.4(POGZ):c.2712dup (p.Ala905fs) rs1553212978
NM_015100.4(POGZ):c.2729C>A (p.Ser910Ter) rs1313319892
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
NM_015100.4(POGZ):c.2883dup (p.Gly962fs) rs1553212626
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter) rs2102147153
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3356T>A (p.Leu1119Ter)
NM_015100.4(POGZ):c.343_344dup (p.Gly116fs)
NM_015107.3(PHF8):c.2225dup (p.Ser742fs) rs1557099144
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015202.5(KATNIP):c.4243del (p.Tyr1415fs)
NM_015214.3(DDHD2):c.1877C>G (p.Ser626Ter)
NM_015215.4(CAMTA1):c.420del (p.Lys141fs) rs1553288266
NM_015215.4(CAMTA1):c.501G>A (p.Trp167Ter)
NM_015215.4(CAMTA1):c.725_728dup (p.Val244fs)
NM_015215.4(CAMTA1):c.766C>T (p.Gln256Ter) rs1553238271
NM_015294.6(TRIM37):c.1167C>G (p.Tyr389Ter) rs2040987609
NM_015294.6(TRIM37):c.1225_1228del (p.Phe409fs) rs761979292
NM_015295.3(SMCHD1):c.3274_3276+1del rs2075161459
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.2239-2A>G rs1555247469
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer)
NM_015335.5(MED13L):c.293_294del (p.Ile98fs) rs1870200055
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs)
NM_015335.5(MED13L):c.4003C>T (p.Gln1335Ter)
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs) rs1877448690
NM_015335.5(MED13L):c.5365-1G>A rs1876893450
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.5(MED13L):c.6372C>A (p.Cys2124Ter)
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015338.6(ASXL1):c.1446dup (p.Val483fs) rs1555911515
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.2733del (p.Lys912fs)
NM_015338.6(ASXL1):c.2763_2770delinsCAA (p.Val922fs) rs1555912285
NM_015338.6(ASXL1):c.2791del (p.Glu931fs) rs1555912296
NM_015338.6(ASXL1):c.3111G>A (p.Trp1037Ter) rs1555912419
NM_015338.6(ASXL1):c.3595_3596dup (p.Pro1200fs)
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter) rs754129466
NM_015346.4(ZFYVE26):c.3935C>A (p.Ser1312Ter) rs752283089
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter) rs750383066
NM_015355.4(SUZ12):c.588_591del (p.Lys197fs)
NM_015378.4(VPS13D):c.9757C>T (p.Arg3253Ter) rs2101602721
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs) rs2046260021
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1269del (p.Glu424fs) rs1555574888
NM_015443.4(KANSL1):c.2020+1G>A
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015450.3(POT1):c.1021C>T (p.Gln341Ter)
NM_015450.3(POT1):c.1060_1063del (p.Gln354fs)
NM_015450.3(POT1):c.1065_1067delinsGG (p.Ala356fs)
NM_015450.3(POT1):c.1065dup (p.Ala356fs) rs1225878757
NM_015450.3(POT1):c.1107del (p.Ser368_Tyr369insTer)
NM_015450.3(POT1):c.1113del (p.Arg372fs)
NM_015450.3(POT1):c.1135A>T (p.Lys379Ter)
NM_015450.3(POT1):c.1168delinsTTC (p.Glu390fs)
NM_015450.3(POT1):c.1251del (p.Leu418fs)
NM_015450.3(POT1):c.1256_1257del (p.Leu418_Tyr419insTer)
NM_015450.3(POT1):c.1285C>T (p.Gln429Ter)
NM_015450.3(POT1):c.1294C>T (p.Arg432Ter) rs758341603
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer) rs1795015022
NM_015450.3(POT1):c.1305del (p.Val436fs) rs1584757180
NM_015450.3(POT1):c.1322dup (p.Asn441fs) rs1358966427
NM_015450.3(POT1):c.1332del (p.Leu445fs)
NM_015450.3(POT1):c.1394_1395del (p.Lys465fs)
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1502_1503del (p.Tyr501fs) rs2116443784
NM_015450.3(POT1):c.1516dup (p.Cys506fs) rs1584749232
NM_015450.3(POT1):c.1568C>A (p.Ser523Ter)
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter) rs1794703569
NM_015450.3(POT1):c.1579del (p.Ser527fs)
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter) rs2116415082
NM_015450.3(POT1):c.1672dup (p.Tyr558fs) rs2116414744
NM_015450.3(POT1):c.1682del (p.Asp561fs)
NM_015450.3(POT1):c.177C>A (p.Cys59Ter)
NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer) rs1584777802
NM_015450.3(POT1):c.212dup (p.Ile72fs) rs1795852638
NM_015450.3(POT1):c.254dup (p.Ile86fs)
NM_015450.3(POT1):c.279_280del (p.Gln94fs) rs2116542675
NM_015450.3(POT1):c.281_282del (p.Gln94fs) rs1397398300
NM_015450.3(POT1):c.318del (p.Phe106fs)
NM_015450.3(POT1):c.329dup (p.Leu110fs) rs2116542410
NM_015450.3(POT1):c.483T>G (p.Tyr161Ter)
NM_015450.3(POT1):c.499C>T (p.Gln167Ter)
NM_015450.3(POT1):c.552G>A (p.Trp184Ter) rs1202302799
NM_015450.3(POT1):c.631dup (p.His211fs) rs2116525878
NM_015450.3(POT1):c.691del (p.Arg231fs)
NM_015450.3(POT1):c.777_781del (p.Leu259fs) rs2116504894
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
NM_015450.3(POT1):c.854_855del (p.Val285fs)
NM_015450.3(POT1):c.887del (p.Asn296fs)
NM_015450.3(POT1):c.954_955dup (p.Gly319fs)
NM_015450.3(POT1):c.961del (p.Val321fs)
NM_015465.5(GEMIN5):c.119del (p.Arg40fs)
NM_015465.5(GEMIN5):c.3429del (p.Ser1144fs)
NM_015465.5(GEMIN5):c.3931dup (p.Ser1311fs)
NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer) rs1555706391
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015570.4(AUTS2):c.2075del (p.Gly692fs)
NM_015570.4(AUTS2):c.218del (p.Pro73fs)
NM_015570.4(AUTS2):c.856A>T (p.Lys286Ter) rs1554480487
NM_015570.4(AUTS2):c.976C>T (p.Gln326Ter) rs1789672491
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015627.3(LDLRAP1):c.24dup (p.Arg9fs)
NM_015627.3(LDLRAP1):c.344+1G>A rs545662810
NM_015627.3(LDLRAP1):c.604delinsCC (p.Ser202fs)
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
NM_015662.1(IFT172):c.299delG
NM_015681.6(B9D1):c.307dup (p.Tyr103fs)
NM_015836.4(WARS2):c.313_317delinsG (p.Asn105fs)
NM_015898.4(ZBTB7A):c.522del (p.Ala175fs)
NM_015910.7(WDPCP):c.74del (p.Gln25fs)
NM_015937.6(PIGT):c.608_609del (p.Val203fs) rs777937565
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs) rs1472577530
NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)
NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)
NM_016032.4(ZDHHC9):c.679del (p.Val226_Leu227insTer) rs1556004813
NM_016032.4(ZDHHC9):c.743dup (p.Leu249fs) rs1927671537
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.373_374del (p.Lys125fs) rs1793014648
NM_016038.4(SBDS):c.460-1G>A rs1792969582
NM_016038.4(SBDS):c.53_56dup (p.Met20fs)
NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)
NM_016103.4(SAR1B):c.336del (p.Glu113fs) rs1765180391
NM_016121.5(KCTD3):c.648G>A (p.Trp216Ter)
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter) rs1863365049
NM_016169.4(SUFU):c.1018del (p.Ala340fs) rs2135889203
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
NM_016169.4(SUFU):c.1123del (p.Gln375fs) rs2135930329
NM_016169.4(SUFU):c.1252del (p.Ala418fs)
NM_016169.4(SUFU):c.1272C>G (p.Tyr424Ter)
NM_016169.4(SUFU):c.1290G>A (p.Trp430Ter) rs1590084324
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016169.4(SUFU):c.37del (p.Thr13fs)
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs) rs1554852279
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter) rs1590065940
NM_016169.4(SUFU):c.846dup (p.Glu283fs) rs1477199832
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter) rs1590066162
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
NM_016169.4(SUFU):c.902_903del (p.Ser301fs)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.666G>A (p.Trp222Ter)
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1591C>G (p.Arg531Gly) rs121908990
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs) rs1190243291
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) rs1310479415
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) rs1245338270
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) rs770991317
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter) rs1555537955
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs) rs1555545225
NM_016284.5(CNOT1):c.2834del (p.Pro945fs)
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter) rs1597562609
NM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter)
NM_016312.3(WBP11):c.585del (p.Gly196fs)
NM_016327.3(UPB1):c.641del (p.Gly214fs)
NM_016333.4(SRRM2):c.5355_5362del (p.Arg1786_Arg1787insTer)
NM_016333.4(SRRM2):c.5506C>T (p.Arg1836Ter)
NM_016333.4(SRRM2):c.6097C>T (p.Arg2033Ter)
NM_016333.4(SRRM2):c.8064_8065del (p.Arg2689fs)
NM_016333.4(SRRM2):c.838C>T (p.Arg280Ter)
NM_016333.4(SRRM2):c.922dup (p.Ala308fs)
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016592.5(GNAS):c.263dup (p.His88fs) rs1555868362
NM_016614.3(TDP2):c.580_581del (p.Gln194fs)
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.305dup (p.His102fs)
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692
NM_016955.4(SEPSECS):c.612dup (p.Val205fs) rs1553881510
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017547.4(FOXRED1):c.530_534del (p.Val177fs)
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.916del (p.Leu306fs)
NM_017617.5(NOTCH1):c.1099+1G>T
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.2012_2013dup (p.Gly672fs)
NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs) rs1554728529
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
NM_017635.5(KMT5B):c.2192del (p.Asn731fs)
NM_017635.5(KMT5B):c.2373T>A (p.Tyr791Ter)
NM_017635.5(KMT5B):c.658C>T (p.Arg220Ter) rs1555028206
NM_017635.5(KMT5B):c.780_781del (p.Ala261fs) rs1565226076
NM_017646.6(TRIT1):c.418del (p.Gln140fs)
NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln) rs1064795431
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys) rs1554336981
NM_017662.5(TRPM6):c.143del (p.Asn48fs)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017755.6(NSUN2):c.1071G>A (p.Trp357Ter)
NM_017755.6(NSUN2):c.1346_1352del (p.Thr449fs)
NM_017755.6(NSUN2):c.191del (p.Gly64fs)
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter) rs387907190
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017780.4(CHD7):c.1808dup (p.Asn603fs) rs1554588675
NM_017780.4(CHD7):c.2413del (p.Ile805fs)
NM_017780.4(CHD7):c.2544_2546delinsTG (p.Lys848fs)
NM_017780.4(CHD7):c.2867del (p.Ser956fs) rs1804068191
NM_017780.4(CHD7):c.2942del (p.Phe981fs)
NM_017780.4(CHD7):c.3065_3066dup (p.Ala1023fs) rs1804096857
NM_017780.4(CHD7):c.3221_3222insA (p.Tyr1075fs) rs1804153046
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3414_3430del (p.Gln1138fs) rs1554599036
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3779-2A>G
NM_017780.4(CHD7):c.3839_3840del (p.Phe1280fs)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4702del (p.Ala1567_Val1568insTer)
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5114dup (p.Val1706fs) rs1554602564
NM_017780.4(CHD7):c.5167dup (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5251del (p.Glu1751fs)
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5426T>G (p.Met1809Arg) rs1554603550
NM_017780.4(CHD7):c.5534+1G>A rs1554603589
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.613C>T (p.Gln205Ter) rs1809058275
NM_017780.4(CHD7):c.6143_6144del (p.Glu2048fs) rs1554604059
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6426del (p.Ser2142_Leu2143insTer)
NM_017780.4(CHD7):c.6746del (p.Asp2249fs) rs1805570234
NM_017780.4(CHD7):c.7281dup (p.Arg2428fs) rs1554605030
NM_017780.4(CHD7):c.7764del (p.Asn2588fs) rs1805946988
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7971+1G>A rs1554606274
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.917_921del (p.Asn306fs) rs1563560966
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017791.3(FLVCR2):c.721_731del (p.Glu241fs)
NM_017802.4(DNAAF5):c.2152C>T (p.Arg718Ter)
NM_017841.4(SDHAF2):c.189dup (p.Glu64fs)
NM_017841.4(SDHAF2):c.199del (p.Arg67fs) rs949388785
NM_017841.4(SDHAF2):c.201_205dup (p.Arg69fs) rs1590764868
NM_017841.4(SDHAF2):c.211_242del (p.Leu71fs)
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.4(SDHAF2):c.233del (p.Gly78fs)
NM_017841.4(SDHAF2):c.267del (p.Phe89fs) rs766035180
NM_017841.4(SDHAF2):c.267dup (p.Ala90fs)
NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.313dup (p.Tyr105fs)
NM_017841.4(SDHAF2):c.331G>T (p.Glu111Ter)
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.362G>A (p.Trp121Ter) rs1862017197
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter) rs1060499901
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.120dup (p.Ile41fs)
NM_017849.4(TMEM127):c.147_159del (p.Glu50fs)
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.4(TMEM127):c.172G>T (p.Gly58Ter)
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
NM_017849.4(TMEM127):c.190C>T (p.Gln64Ter)
NM_017849.4(TMEM127):c.202dup (p.Val68fs) rs1684388744
NM_017849.4(TMEM127):c.224del (p.Val75fs)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.245-1G>A
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.262C>T (p.Gln88Ter)
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.267_268del (p.Val90fs)
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
NM_017849.4(TMEM127):c.319del (p.Ser107fs)
NM_017849.4(TMEM127):c.328dup (p.Ala110fs)
NM_017849.4(TMEM127):c.388_405delinsT (p.Ala130fs)
NM_017849.4(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_017849.4(TMEM127):c.415C>T (p.Gln139Ter)
NM_017849.4(TMEM127):c.472C>T (p.Gln158Ter)
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.4(TMEM127):c.73A>T (p.Lys25Ter) rs1573977924
NM_017849.4(TMEM127):c.74del (p.Lys25fs)
NM_017868.4(TTC12):c.283C>T (p.Arg95Ter)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017934.7(PHIP):c.1317dup (p.Ile440fs) rs1770802469
NM_017934.7(PHIP):c.2363del (p.Lys788fs)
NM_017934.7(PHIP):c.4677del (p.Ser1560fs)
NM_017934.7(PHIP):c.5054_5063delinsGGATT (p.Glu1685fs)
NM_017934.7(PHIP):c.923+1G>A rs1771354257
NM_017946.4(FKBP14):c.34dup (p.Leu12fs)
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017950.4(CCDC40):c.1233dup (p.Arg412fs)
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.2408del (p.Lys803fs)
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs) rs878855042
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
NM_017951.5(SMPD4):c.-67_-66del
NM_017988.6(SCYL2):c.298C>T (p.Arg100Ter)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018076.5(ODAD2):c.334del (p.Ile113fs)
NM_018076.5(ODAD2):c.395_396del (p.Pro132fs)
NM_018122.5(DARS2):c.127+1G>A rs869312918
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) rs766311956
NM_018131.5(CEP55):c.1191+2T>C rs1002854345
NM_018133.4(MSL2):c.521dup (p.Leu174fs)
NM_018133.4(MSL2):c.535G>T (p.Glu179Ter)
NM_018136.5(ASPM):c.1386C>G (p.Tyr462Ter) rs1553227742
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4117del (p.Tyr1373fs)
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.59_98del (p.Pro20fs)
NM_018136.5(ASPM):c.6152del (p.Gln2051fs) rs1189399471
NM_018136.5(ASPM):c.6841_6844del (p.Arg2281fs)
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) rs199422172
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer) rs765530357
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8988-1G>C rs1553326645
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter)
NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter) rs139416233
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018255.4(ELP2):c.1741_1742del (p.Leu581fs)
NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter)
NM_018297.4(NGLY1):c.1242del (p.Asn415fs) rs1575616394
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)
NM_018297.4(NGLY1):c.39del (p.Ser14fs) rs1553666033
NM_018426.3(TMEM63B):c.1979G>C (p.Arg660Thr)
NM_018451.5(CENPJ):c.2328dup (p.Val777fs)
NM_018486.2(HDAC8):c.911delG rs1555991965
NM_018486.3(HDAC8):c.193G>T (p.Glu65Ter)
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_018486.3(HDAC8):c.755_761del (p.Tyr252fs) rs1555993215
NM_018489.3(ASH1L):c.1651G>T (p.Gly551Ter)
NM_018489.3(ASH1L):c.1984_1985del (p.Ile662fs)
NM_018489.3(ASH1L):c.2021_2025del (p.Ser674fs) rs1665902242
NM_018489.3(ASH1L):c.3547_3550dup (p.Thr1184fs)
NM_018489.3(ASH1L):c.6366C>A (p.Cys2122Ter)
NM_018489.3(ASH1L):c.6436C>T (p.Arg2146Ter)
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_018489.3(ASH1L):c.8500C>T (p.Arg2834Ter)
NM_018669.6(WDR4):c.779_786del (p.Leu260fs)
NM_018684.4(ZC4H2):c.148C>T (p.Gln50Ter) rs797044863
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs) rs1929136990
NM_018684.4(ZC4H2):c.362del (p.Pro121fs)
NM_018684.4(ZC4H2):c.450dup (p.Ile151fs) rs1555933851
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_018699.4(PRDM5):c.1050C>A (p.Cys350Ter)
NM_018706.7(DHTKD1):c.2583G>A (p.Trp861Ter)
NM_018718.3(CEP41):c.33+1G>A
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln) rs1057521725
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_018941.4(CLN8):c.703del (p.Val236fs) rs761621368
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019023.5(PRMT7):c.471del (p.Ser158fs) rs770567326
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter) rs1247427997
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019042.5(PUS7):c.393_397del (p.Glu132fs)
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401
NM_019066.5(MAGEL2):c.1906C>T (p.Gln636Ter) rs765424967
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.1944del (p.Gln650fs) rs1890386731
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.3122del (p.Val1041fs) rs1555374117
NM_019098.5(CNGB3):c.339-4415_673del
NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020066.5(FMN2):c.4414G>T (p.Glu1472Ter)
NM_020117.11(LARS1):c.1237C>T (p.Arg413Ter)
NM_020117.11(LARS1):c.2500A>T (p.Lys834Ter) rs200351329
NM_020117.11(LARS1):c.727A>T (p.Lys243Ter)
NM_020191.4(MRPS22):c.373C>T (p.Arg125Ter)
NM_020312.4(COQ9):c.521+2T>C
NM_020320.5(RARS2):c.1163del (p.Gly388fs)
NM_020320.5(RARS2):c.500_503del (p.Arg167fs) rs1782401252
NM_020338.4(ZMIZ1):c.1372C>T (p.Gln458Ter) rs1853909290
NM_020338.4(ZMIZ1):c.2194G>T (p.Glu732Ter)
NM_020435.4(GJC2):c.80G>A (p.Trp27Ter) rs1553262429
NM_020442.6(VARS2):c.1219C>T (p.Arg407Ter)
NM_020442.6(VARS2):c.3004C>T (p.Arg1002Ter) rs908881657
NM_020461.4(TUBGCP6):c.2747del (p.Pro916fs)
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.641dup (p.Ser214fs)
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
NM_020680.4(SCYL1):c.1039C>T (p.Gln347Ter) rs1855366408
NM_020680.4(SCYL1):c.1346_1347del (p.Thr449fs) rs773812714
NM_020680.4(SCYL1):c.2066_2067del (p.Pro689fs) rs759830598
NM_020680.4(SCYL1):c.560del (p.Pro187fs)
NM_020699.4(GATAD2B):c.1091del (p.Leu364fs)
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1444C>T (p.Gln482Ter) rs946006593
NM_020699.4(GATAD2B):c.229G>T (p.Glu77Ter)
NM_020699.4(GATAD2B):c.271_274dup (p.Ala92fs) rs1674944862
NM_020699.4(GATAD2B):c.453dup (p.Glu152fs)
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.727C>T (p.Gln243Ter)
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_020706.2(SCAF4):c.1411C>T (p.Arg471Ter)
NM_020706.2(SCAF4):c.1648dup (p.Met550fs)
NM_020706.2(SCAF4):c.656_660dup (p.Asn221fs)
NM_020706.2(SCAF4):c.852del (p.Val285fs)
NM_020719.3(PRR12):c.2345_2348del (p.Leu782fs)
NM_020719.3(PRR12):c.2398del (p.Gln800fs)
NM_020719.3(PRR12):c.2946dup (p.Gly983fs)
NM_020719.3(PRR12):c.3241del (p.Leu1081fs) rs2080782573
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020778.5(ALPK3):c.1055dup (p.Pro352_Asp353insTer)
NM_020778.5(ALPK3):c.1072C>T (p.Gln358Ter)
NM_020778.5(ALPK3):c.1304del (p.Gln435fs)
NM_020778.5(ALPK3):c.1417del (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.1619T>A (p.Leu540Ter)
NM_020778.5(ALPK3):c.1936C>T (p.Gln646Ter)
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.2244dup (p.Ala749fs)
NM_020778.5(ALPK3):c.2419G>T (p.Glu807Ter)
NM_020778.5(ALPK3):c.2434C>T (p.Gln812Ter)
NM_020778.5(ALPK3):c.2455C>T (p.Arg819Ter)
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs) rs1963877824
NM_020778.5(ALPK3):c.3231_3232del (p.Asp1077fs) rs2141568790
NM_020778.5(ALPK3):c.3290_3292delinsTTT (p.Pro1097_Glu1098delinsLeuTer)
NM_020778.5(ALPK3):c.3535del (p.Glu1179fs) rs1567094168
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.3720del (p.Ser1241fs)
NM_020778.5(ALPK3):c.3772C>T (p.Gln1258Ter)
NM_020778.5(ALPK3):c.3885G>A (p.Trp1295Ter)
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953
NM_020778.5(ALPK3):c.4154del (p.Pro1385fs) rs568699617
NM_020778.5(ALPK3):c.417del (p.Tyr140fs)
NM_020778.5(ALPK3):c.423del rs1555434555
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs) rs2141574028
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter) rs1555436118
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
NM_020778.5(ALPK3):c.62del (p.Gly21fs) rs1250475254
NM_020778.5(ALPK3):c.634del (p.Thr212fs) rs2141556375
NM_020778.5(ALPK3):c.678_698delinsCTTG (p.Ser228fs)
NM_020791.4(TAOK1):c.1390dup (p.Met464fs)
NM_020791.4(TAOK1):c.1673_1674del (p.Glu558fs)
NM_020791.4(TAOK1):c.2083C>T (p.Arg695Ter) rs2031936282
NM_020791.4(TAOK1):c.2104C>T (p.Arg702Ter) rs1481295744
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.4480G>T (p.Glu1494Ter) rs568049240
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020843.4(SCAPER):c.2436del (p.Arg814fs)
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) rs797044934
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020964.3(EPG5):c.3949_3952del (p.Leu1317fs)
NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)
NM_020971.3(SPTBN4):c.1813C>T (p.Gln605Ter) rs2080330778
NM_020971.3(SPTBN4):c.2052_2071dup (p.Leu691fs) rs1555815437
NM_020971.3(SPTBN4):c.3829del (p.Gln1277fs) rs2080555011
NM_020975.6(RET):c.1010_1017del (p.Glu337fs)
NM_020975.6(RET):c.1425dup (p.Pro476fs) rs1554818540
NM_020975.6(RET):c.1471C>T (p.Gln491Ter) rs1397494237
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1825T>G (p.Cys609Gly) rs77558292
NM_020975.6(RET):c.1826G>C (p.Cys609Ser) rs77939446
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.1831T>A (p.Cys611Ser) rs377767391
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
NM_020975.6(RET):c.1832G>T (p.Cys611Phe) rs377767397
NM_020975.6(RET):c.1852T>A (p.Cys618Ser) rs76262710
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) rs79781594
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) rs77316810
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) rs79890926
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) rs377767405
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) rs377767406
NM_020975.6(RET):c.1899_1900delinsAA (p.Cys634Ser)
NM_020975.6(RET):c.1900T>A (p.Cys634Ser) rs75076352
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu) rs1588874068
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2041C>T (p.Gln681Ter)
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.3031A>T (p.Lys1011Ter)
NM_020975.6(RET):c.3100_3101del (p.Ser1034fs)
NM_020975.6(RET):c.45dup (p.Leu16fs)
NM_020975.6(RET):c.532dup (p.Glu178fs)
NM_020975.6(RET):c.652_653dup (p.Asp219fs)
NM_020987.5(ANK3):c.855dup (p.Leu286fs)
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) rs869312939
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_020988.3(GNAO1):c.723+1G>A rs1596872804
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_021005.4(NR2F2):c.1097G>C (p.Arg366Pro) rs1555447465
NM_021005.4(NR2F2):c.64C>T (p.Gln22Ter) rs1555446980
NM_021005.4(NR2F2):c.775C>T (p.Gln259Ter)
NM_021008.4(DEAF1):c.576C>A (p.Tyr192Ter) rs1554944527
NM_021074.5(NDUFV2):c.230_236del (p.Ala77fs)
NM_021074.5(NDUFV2):c.491_492insGT (p.Pro165fs)
NM_021083.4(XK):c.1015A>T (p.Lys339Ter) rs1556450491
NM_021120.4(DLG3):c.158del (p.Gly53fs)
NM_021120.4(DLG3):c.351T>A (p.Tyr117Ter) rs1241142887
NM_021120.4(DLG3):c.546_549del (p.Val183fs)
NM_021120.4(DLG3):c.631C>T (p.Arg211Ter) rs1213060424
NM_021222.3(PRUNE1):c.3_7dup (p.Asp3fs) rs1553251507
NM_021222.3(PRUNE1):c.661del (p.Ala221fs) rs1553253812
NM_021224.6(ZNF462):c.1992del (p.Leu665fs)
NM_021224.6(ZNF462):c.2022_2023insTTGTAA (p.Ala675delinsLeuTer)
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs)
NM_021224.6(ZNF462):c.3603del (p.Asn1202fs)
NM_021224.6(ZNF462):c.4609C>T (p.Arg1537Ter)
NM_021224.6(ZNF462):c.6146_6150dup (p.His2051fs)
NM_021224.6(ZNF462):c.6214_6215del (p.His2072fs) rs1830599035
NM_021619.3(PRDM12):c.514G>T (p.Glu172Ter)
NM_021620.4(PRDM13):c.639_655dup (p.Gln219fs)
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.2204T>G (p.Leu735Arg) rs1555205335
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021728.4(OTX2):c.226C>T (p.Arg76Ter) rs773157352
NM_021926.4(ALX4):c.793C>T (p.Arg265Ter) rs267606653
NM_021939.4(FKBP10):c.1343_1344del (p.Val448fs) rs797044852
NM_021942.6(TRAPPC11):c.1190G>A (p.Trp397Ter)
NM_021942.6(TRAPPC11):c.2567_2568del (p.Tyr856fs) rs1579207748
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_022041.4(GAN):c.1112_1124delinsGA (p.Glu371fs)
NM_022041.4(GAN):c.432C>G (p.Tyr144Ter) rs1555511101
NM_022072.5(NSUN3):c.150G>A (p.Trp50Ter)
NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter) rs373607247
NM_022089.4(ATP13A2):c.2487del (p.Phe830fs)
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022095.4(ZNF335):c.3332G>T (p.Arg1111Leu) rs397514642
NM_022095.4(ZNF335):c.3523_3524insGGCCCTG (p.Glu1175delinsGlyProTer)
NM_022095.4(ZNF335):c.757dup (p.Arg253fs) rs1555851216
NM_022114.4(PRDM16):c.2595dup (p.Ile866fs) rs1643715509
NM_022114.4(PRDM16):c.259C>T (p.Arg87Ter)
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022167.4(XYLT2):c.692dup (p.Val232fs) rs797044806
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_022436.3(ABCG5):c.136del (p.Ser46fs)
NM_022436.3(ABCG5):c.1762+1G>A
NM_022436.3(ABCG5):c.335dup (p.Val113fs)
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter)
NM_022436.3(ABCG5):c.904+1G>A
NM_022455.5(NSD1):c.1084dup (p.Arg362fs)
NM_022455.5(NSD1):c.1302del (p.Lys435fs)
NM_022455.5(NSD1):c.1611dup (p.Ile538fs)
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter) rs1554189042
NM_022455.5(NSD1):c.2209dup (p.Thr737fs) rs1763260541
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs) rs1763290288
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs) rs886043780
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs) rs1554190262
NM_022455.5(NSD1):c.3788del (p.Pro1263fs) rs1763397665
NM_022455.5(NSD1):c.3891del (p.Lys1297fs) rs1765403726
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs) rs1554199501
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) rs2149918110
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
NM_022455.5(NSD1):c.5622+1G>A
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6045T>G (p.Tyr2015Ter)
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs) rs755744291
NM_022552.5(DNMT3A):c.1405G>T (p.Glu469Ter)
NM_022552.5(DNMT3A):c.2037del (p.Lys680fs) rs1365479526
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.892G>T (p.Gly298Trp) rs797044904
NM_022773.4(LMF1):c.157del (p.Arg53fs)
NM_022786.3(ARV1):c.148del (p.His50fs)
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_022893.4(BCL11A):c.385+2T>C rs1553352926
NM_022893.4(BCL11A):c.56-1G>C rs1553353092
NM_022893.4(BCL11A):c.793dup (p.Leu265fs) rs761909641
NM_023036.6(DNAI2):c.1122del (p.Phe375fs)
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) rs1057516161
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs) rs1559425580
NM_024079.5(ALG8):c.309dup (p.Leu104fs)
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024298.5(MBOAT7):c.676_679dup (p.Leu227fs)
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1187dup (p.Ala397fs) rs772020161
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024339.5(THOC6):c.838del (p.Val280fs) rs2072826485
NM_024417.5(FDXR):c.778_779dup (p.Leu260fs)
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) rs1448467079
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)
NM_024422.6(DSC2):c.2432del (p.Gly811fs)
NM_024422.6(DSC2):c.271_272insCAAT (p.Lys91fs)
NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs)
NM_024422.6(DSC2):c.571_572dup (p.Asp191fs)
NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)
NM_024422.6(DSC2):c.686del (p.Leu229fs)
NM_024496.4(IRF2BPL):c.1040dup (p.Gln348fs)
NM_024496.4(IRF2BPL):c.2052delinsAA (p.Pro685fs)
NM_024496.4(IRF2BPL):c.2116_2117delinsT (p.Pro706fs)
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter)
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1052dup (p.Asn352fs)
NM_024529.5(CDC73):c.1063_1066del (p.Lys355fs)
NM_024529.5(CDC73):c.1171G>T (p.Glu391Ter)
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1226_1230del (p.Lys409fs)
NM_024529.5(CDC73):c.1370G>A (p.Trp457Ter)
NM_024529.5(CDC73):c.1394_1398del (p.Ser465fs)
NM_024529.5(CDC73):c.1480_1481dup (p.Val494_Thr495insTer)
NM_024529.5(CDC73):c.157_173del (p.Glu53fs)
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.2T>C (p.Met1Thr) rs1553277483
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.449_452del (p.Lys150fs)
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.897del (p.Gly300fs)
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.3115del (p.Glu1039fs)
NM_024580.6(EFL1):c.2005C>T (p.Arg669Ter) rs2141235535
NM_024656.4(COLGALT1):c.25_37del (p.Arg9fs)
NM_024675.3(PALB2):c.1686delG rs1597091518
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) rs1555460682
NM_024675.3:c.(1684+1_1685-1)_(2748+1_2749-1)dup
NM_024675.3:c.(3113+1_3114-1)_(3201+1_3202-1)dup
NM_024675.3:c.(3201+1_3202-1)_(3350+1_3351-1)dup
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter) rs1967002667
NM_024675.4(PALB2):c.1004dup (p.Asn335fs)
NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs) rs1555461502
NM_024675.4(PALB2):c.100del (p.Arg34fs) rs1597101822
NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter) rs45494092
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter) rs45494092
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter) rs2142428256
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1031del (p.Asn344fs) rs1485260432
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.1039_1042delinsAAAAAA (p.Glu347fs) rs1567221761
NM_024675.4(PALB2):c.103del (p.Leu35fs)
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.1051del (p.Thr351fs)
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
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.1064T>A (p.Leu355Ter)
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer) rs1555461472
NM_024675.4(PALB2):c.1064dup (p.Leu355fs)
NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs) rs2142426807
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs) rs1555461467
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.1103dup (p.Asn368fs) rs1555461451
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.110del (p.Arg37fs)
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.1129C>T (p.Gln377Ter) rs929474806
NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs)
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs) rs2142424706
NM_024675.4(PALB2):c.1152del (p.Ala385fs) rs1567221493
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.1161_1162del (p.Pro388fs)
NM_024675.4(PALB2):c.1163dup (p.Leu389fs) rs869312772
NM_024675.4(PALB2):c.1168dup (p.Ser390fs) rs1966988658
NM_024675.4(PALB2):c.1174G>T (p.Glu392Ter)
NM_024675.4(PALB2):c.1174_1189del (p.Glu392fs)
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.1189_1195del (p.Thr397fs)
NM_024675.4(PALB2):c.118del (p.Arg40fs) rs1597101532
NM_024675.4(PALB2):c.1190_1191del (p.Thr397fs) rs1555461408
NM_024675.4(PALB2):c.1191del (p.Val398fs)
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1206del (p.Leu403fs) rs876658431
NM_024675.4(PALB2):c.1216del (p.Ala406fs) rs876659741
NM_024675.4(PALB2):c.1224T>G (p.Tyr408Ter)
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.1234del (p.Thr412fs)
NM_024675.4(PALB2):c.1248del (p.Met416fs) rs1966981959
NM_024675.4(PALB2):c.1257C>A (p.Cys419Ter)
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) rs1555461366
NM_024675.4(PALB2):c.1285_1288delinsTGA (p.Ile429_Gln430delinsTer)
NM_024675.4(PALB2):c.1285dup (p.Ile429fs)
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.1289dup (p.Ser431fs)
NM_024675.4(PALB2):c.1291_1292del (p.His432fs) rs786203057
NM_024675.4(PALB2):c.12dup (p.Pro5fs) rs879254062
NM_024675.4(PALB2):c.1314_1315del (p.Gly439fs)
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1317dup (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter) rs1555461339
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
NM_024675.4(PALB2):c.1349del (p.Asn450fs) rs1597096338
NM_024675.4(PALB2):c.1352dup (p.Leu451fs) rs1597096326
NM_024675.4(PALB2):c.1369del (p.Glu457fs) rs2142418150
NM_024675.4(PALB2):c.136_148del (p.His46fs) rs2142457035
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) rs876658166
NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter)
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) rs1597096243
NM_024675.4(PALB2):c.1400del (p.Gly467fs)
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer) rs1555461295
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) rs876659341
NM_024675.4(PALB2):c.1426del (p.Arg476fs) rs1184981956
NM_024675.4(PALB2):c.1427dup (p.Thr477fs) rs2142416277
NM_024675.4(PALB2):c.1429del (p.Thr477fs) rs1555461287
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter) rs1060502761
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.1451T>G (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1454_1457del (p.Thr485fs)
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs) rs2142415370
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.1536C>A (p.Tyr512Ter) rs1567220802
NM_024675.4(PALB2):c.1538del (p.Thr513fs) rs879253892
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) rs2142412914
NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs) rs1567220758
NM_024675.4(PALB2):c.1551del (p.Lys517fs) rs1597095683
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.1565del (p.Pro522fs) rs1555461217
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) rs587776414
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1619dup (p.Asn540fs) rs1555461192
NM_024675.4(PALB2):c.1635del (p.Val546fs) rs1597095394
NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) rs1064793772
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.1647_1648del (p.His549fs) rs786201773
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter) rs1555461178
NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs) rs2142410052
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter) rs1555461176
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) rs118203997
NM_024675.4(PALB2):c.1653_1655del (p.Tyr551_Gln552delinsTer)
NM_024675.4(PALB2):c.1653del (p.Gln552fs) rs1555461174
NM_024675.4(PALB2):c.1655del (p.Gln552fs)
NM_024675.4(PALB2):c.1658_1660delinsCC (p.His553fs)
NM_024675.4(PALB2):c.1660G>T (p.Glu554Ter)
NM_024675.4(PALB2):c.1660_1666del (p.Glu554fs)
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1671del (p.Phe557fs)
NM_024675.4(PALB2):c.1675_1676delinsTG
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.1683del (p.Lys563fs)
NM_024675.4(PALB2):c.1692_1693del (p.Arg566fs)
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter) rs876659354
NM_024675.4(PALB2):c.1702del (p.Gln568fs)
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.1707del (p.Glu570fs)
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs) rs1597091425
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.1735_1736dup (p.Tyr580fs) rs2142390444
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.1758del (p.Asp586fs) rs2142389968
NM_024675.4(PALB2):c.1789del (p.Met597fs) rs1555460650
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) rs886039747
NM_024675.4(PALB2):c.1795del (p.Ser599fs) rs1555460648
NM_024675.4(PALB2):c.1802_1809dup (p.Leu604fs)
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) rs876660475
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs) rs1060499818
NM_024675.4(PALB2):c.1836dup (p.Gln613fs)
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.1857del (p.Phe619fs) rs1966864847
NM_024675.4(PALB2):c.185del (p.Asp62fs)
NM_024675.4(PALB2):c.1863del (p.Lys623fs)
NM_024675.4(PALB2):c.1873G>T (p.Glu625Ter)
NM_024675.4(PALB2):c.1873del (p.Glu625fs) rs1555460609
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs) rs1597090903
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter) rs1597090894
NM_024675.4(PALB2):c.1894G>T (p.Glu632Ter)
NM_024675.4(PALB2):c.1899del (p.Lys633fs)
NM_024675.4(PALB2):c.1914_1929del (p.Phe638fs) rs786203244
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.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter) rs786202439
NM_024675.4(PALB2):c.1939_1940insT (p.His647fs) rs1966863209
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter) rs1555460579
NM_024675.4(PALB2):c.1946_1949del (p.Lys649fs) rs1597090656
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
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.1969G>T (p.Glu657Ter)
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs) rs1966862408
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter) rs1555460542
NM_024675.4(PALB2):c.1972del (p.Glu658fs) rs1555460548
NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs) rs2142384476
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.2002del (p.Met668fs) rs1555460526
NM_024675.4(PALB2):c.2006del (p.Glu669fs) rs587778584
NM_024675.4(PALB2):c.2013del (p.Glu672fs)
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter) rs1966861886
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.2045C>A (p.Ser682Ter)
NM_024675.4(PALB2):c.2048del (p.His683fs) rs1597090324
NM_024675.4(PALB2):c.204del (p.Lys68fs) rs1555462031
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2060del (p.Pro687fs)
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) rs749602688
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2092del (p.Leu698fs) rs1060499819
NM_024675.4(PALB2):c.2099C>G (p.Ser700Ter) rs1597090146
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) rs1555460490
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter) rs1597090059
NM_024675.4(PALB2):c.2142_2143insTAA (p.Asp715Ter) rs876658855
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.2156del (p.Pro719fs) rs876660193
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs) rs1555460465
NM_024675.4(PALB2):c.2161del (p.Thr721fs) rs1597089904
NM_024675.4(PALB2):c.2173_2174dup (p.Pro726fs)
NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs) rs1555460463
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
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.2199_2203del (p.Thr734fs)
NM_024675.4(PALB2):c.2205del (p.Ala736fs) rs587782892
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.2220del (p.Gly741fs) rs1597089741
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.2241_2245del (p.Thr748fs)
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.2252del (p.Ala751fs)
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs) rs1555460423
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.2280del (p.Ala761fs) rs876659697
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.2293_2294dup (p.Asp765fs)
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) rs876658170
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs) rs1597089434
NM_024675.4(PALB2):c.2310del (p.Ser771fs)
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.232del (p.Val78fs) rs1555461868
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.2358dup (p.Thr787fs) rs1597089246
NM_024675.4(PALB2):c.235del (p.Tyr79fs)
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2373del (p.Ser792fs)
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.237T>G (p.Tyr79Ter)
NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter) rs1966856854
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) rs1060502768
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs) rs587780211
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.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
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.2479del (p.Thr827fs) rs1597088811
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs) rs876658358
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter) rs1966855759
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.249del (p.His83fs)
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.2512_2513del (p.Gln838fs)
NM_024675.4(PALB2):c.2517_2518del (p.Glu840fs) rs1597088245
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs) rs786203382
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.4(PALB2):c.2575del (p.Ser859fs) rs2142367858
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
NM_024675.4(PALB2):c.2582del (p.Glu860_Leu861insTer)
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter) rs746604683
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2607dup (p.Val870fs) rs767633741
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) rs876660678
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.2635del (p.Arg879fs) rs876660643
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) rs730881868
NM_024675.4(PALB2):c.264del (p.Asp89fs)
NM_024675.4(PALB2):c.2650del (p.Glu884fs)
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.26delinsCG (p.Leu9fs) rs587781662
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.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2719del (p.Glu907fs) rs1555459934
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) rs1555459925
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
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.2770_2773dup (p.Val925fs) rs1597082866
NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter) rs876660669
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs) rs587776418
NM_024675.4(PALB2):c.2797del (p.Cys933fs)
NM_024675.4(PALB2):c.280G>T (p.Glu94Ter)
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
NM_024675.4(PALB2):c.2824A>T (p.Arg942Ter) rs757055720
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) rs1224428422
NM_024675.4(PALB2):c.2829_2830del (p.Glu943fs)
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2837del (p.Ala946fs) rs1555459599
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs) rs1597081571
NM_024675.4(PALB2):c.283A>T (p.Lys95Ter)
NM_024675.4(PALB2):c.2850del (p.Ser951fs) rs1060499824
NM_024675.4(PALB2):c.2876dup (p.Leu960fs)
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2912_2913del (p.Gly971fs)
NM_024675.4(PALB2):c.2915del (p.Leu972fs) rs1555459553
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
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.2950del (p.Leu984fs) rs1966800194
NM_024675.4(PALB2):c.2953del (p.Ser985fs) rs1597081202
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.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) rs786203775
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs) rs1597079941
NM_024675.4(PALB2):c.3003del (p.Glu1002fs)
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs) rs1567213009
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.3026dup (p.Pro1009_Glu1010insTer)
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter) rs1966771907
NM_024675.4(PALB2):c.3037_3040delinsGTG (p.Ile1013fs)
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.304del (p.Val102fs)
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.3077dup (p.Leu1027fs)
NM_024675.4(PALB2):c.3113+1434_3201+1211dup
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) rs778345761
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.4(PALB2):c.3156del (p.Asp1052fs)
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs) rs1555458815
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.3170_3175delinsAATCA (p.Ala1057fs) rs1597073266
NM_024675.4(PALB2):c.3186del (p.Ala1063fs) rs869312774
NM_024675.4(PALB2):c.3193dup (p.Ser1065fs)
NM_024675.4(PALB2):c.31del (p.Cys11fs)
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs) rs786202008
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) rs886039634
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs) rs879254060
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.3246dup (p.Glu1083Ter) rs1555458211
NM_024675.4(PALB2):c.3254T>A (p.Leu1085Ter)
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs) rs587781890
NM_024675.4(PALB2):c.326del (p.Pro109fs) rs2142445986
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs) rs1567206813
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_024675.4(PALB2):c.3311del (p.Gly1104fs) rs1060499828
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3332del (p.Pro1111fs) rs1597066595
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) rs876658773
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.336_337delinsA (p.Pro113fs)
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) rs876660574
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter) rs1597062296
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs) rs876660492
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter) rs1555457878
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
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.3453_3459del (p.Pro1152fs)
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.3473_3476dup (p.Trp1159Ter) rs876658695
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.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.3497del (p.Gly1166fs) rs180177138
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) rs1555457841
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.35del (p.Glu12fs) rs876659063
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer) rs1567222943
NM_024675.4(PALB2):c.404dup (p.Pro135_Ser136insTer)
NM_024675.4(PALB2):c.419dup (p.Gln141fs) rs1597099331
NM_024675.4(PALB2):c.421del (p.Gln141fs)
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.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.445_449del (p.Lys149fs)
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.466_467del (p.Ile156fs) rs876659405
NM_024675.4(PALB2):c.472del (p.Gln158fs)
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.512T>A (p.Leu171Ter) rs876658979
NM_024675.4(PALB2):c.517_523delinsAAAGGACAG (p.Gly173fs)
NM_024675.4(PALB2):c.519del (p.Arg175fs)
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs) rs1597098996
NM_024675.4(PALB2):c.527_531del (p.Leu176fs) rs1597098971
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.544del (p.Ile182fs) rs886039614
NM_024675.4(PALB2):c.552del (p.Ser184fs) rs1060502738
NM_024675.4(PALB2):c.557dup (p.Asn186fs) rs1555461727
NM_024675.4(PALB2):c.580_584del (p.Glu194fs)
NM_024675.4(PALB2):c.595_596insA (p.Leu199fs)
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.606del (p.Lys203fs)
NM_024675.4(PALB2):c.60del (p.Lys20fs)
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.639del (p.Thr214fs) rs1555461695
NM_024675.4(PALB2):c.646del (p.Ile216fs) rs1597098679
NM_024675.4(PALB2):c.654del (p.Asp219fs) rs587781697
NM_024675.4(PALB2):c.655_656del (p.Asp219fs) rs1567222580
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) rs587782531
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.693dup (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.709del (p.Phe236_Leu237insTer)
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter) rs779278389
NM_024675.4(PALB2):c.71_73delinsGG (p.Leu24fs) rs1967112121
NM_024675.4(PALB2):c.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs) rs749731838
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) rs1248579792
NM_024675.4(PALB2):c.745_749del (p.Pro249fs) rs876659326
NM_024675.4(PALB2):c.753_754del (p.Gln251fs)
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.761del (p.Leu253_Ser254insTer) rs2142435242
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_024675.4(PALB2):c.786del (p.Glu263fs) rs730881870
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.810_828del (p.Ser270fs) rs1555461606
NM_024675.4(PALB2):c.814G>T (p.Glu272Ter) rs515726127
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.825del (p.His276fs) rs2142433522
NM_024675.4(PALB2):c.839del (p.Asn280fs) rs1555461597
NM_024675.4(PALB2):c.83del (p.Tyr28fs)
NM_024675.4(PALB2):c.840del (p.Asn280fs) rs1597098094
NM_024675.4(PALB2):c.844_847del (p.Arg282fs) rs1555461586
NM_024675.4(PALB2):c.850dup (p.Thr284fs) rs587782232
NM_024675.4(PALB2):c.854C>G (p.Ser285Ter) rs180177094
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
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.890_891del (p.Thr297fs)
NM_024675.4(PALB2):c.901_907del (p.Asp301fs) rs1555461551
NM_024675.4(PALB2):c.903del (p.Asp301fs)
NM_024675.4(PALB2):c.905del (p.Asn302fs) rs1555461553
NM_024675.4(PALB2):c.905dup (p.Asn302fs)
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter) rs1060499831
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) rs1060502772
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
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.976dup (p.Ser326fs) rs1555461517
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter) rs2142429230
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer) rs2105329247
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter) rs1949206105
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.2188dup (p.Glu730fs) rs1554879633
NM_024757.5(EHMT1):c.2193-1G>C rs137852720
NM_024757.5(EHMT1):c.2483_2488delinsGA (p.Ala828fs)
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3321_3324del (p.Cys1109fs) rs1954889657
NM_024757.5(EHMT1):c.3321_3326delinsTT (p.Ala1108fs) rs1554897852
NM_024757.5(EHMT1):c.3346C>T (p.Arg1116Ter) rs749848324
NM_024757.5(EHMT1):c.749_750delinsG (p.Leu250fs)
NM_024818.6(UBA5):c.129_130insGG (p.Ser44fs) rs766932828
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) rs1477101414
NM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)
NM_024989.4(PGAP1):c.668del (p.Asn223fs) rs1702538795
NM_025009.5(CEP135):c.1733T>G (p.Leu578Ter)
NM_025074.7(FRAS1):c.8098+2T>A rs786205570
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter) rs2040371663
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
NM_025137.4(SPG11):c.190C>T (p.Gln64Ter)
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs) rs767798272
NM_025137.4(SPG11):c.4291del (p.Leu1431fs)
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.6635dup (p.Gly2213fs)
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer) rs2082272406
NM_025137.4(SPG11):c.817_820dup (p.Val274fs) rs2084963365
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_025233.7(COASY):c.553_557del (p.Lys185fs)
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025265.4(TSEN2):c.215C>A (p.Ser72Ter)
NM_030632.3(ASXL3):c.1271del (p.Pro424fs)
NM_030632.3(ASXL3):c.1316C>G (p.Ser439Ter) rs2067592710
NM_030632.3(ASXL3):c.1354del (p.Glu452fs) rs1555742087
NM_030632.3(ASXL3):c.1389_1390del (p.Cys463_Glu464delinsTer) rs2067594520
NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs) rs2067597366
NM_030632.3(ASXL3):c.1612G>T (p.Glu538Ter) rs2067601254
NM_030632.3(ASXL3):c.1802dup (p.Leu602fs) rs2067607133
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3213dup (p.Ala1072fs)
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs) rs2067694467
NM_030632.3(ASXL3):c.3332_3333del (p.Phe1111fs) rs2067695073
NM_030665.4(RAI1):c.1490del (p.Leu497fs) rs2032151441
NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter) rs961308480
NM_030665.4(RAI1):c.1670_1671del (p.Ser557fs) rs1555565243
NM_030665.4(RAI1):c.2234_2237del (p.Ala745fs) rs1555565426
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3920_3924delinsATG (p.Arg1307fs)
NM_030665.4(RAI1):c.3937dup (p.Ala1313fs)
NM_030665.4(RAI1):c.4432del (p.Arg1478fs) rs2032300575
NM_030665.4(RAI1):c.4455del (p.Ala1487fs)
NM_030665.4(RAI1):c.5296C>T (p.Gln1766Ter)
NM_030777.4(SLC2A10):c.1057_1058del (p.Leu353fs)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030962.4(SBF2):c.229C>T (p.Arg77Ter)
NM_030962.4(SBF2):c.3706C>T (p.Gln1236Ter)
NM_030973.4(MED25):c.781_791del (p.Pro261fs)
NM_030973.4(MED25):c.924del (p.Leu309fs) rs2074049374
NM_031229.4(RBCK1):c.748dup (p.Tyr250fs)
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter) rs1554698878
NM_031263.4(HNRNPK):c.875del (p.Pro292fs) rs1956866167
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031844.3(HNRNPU):c.1085del (p.Gly362fs) rs1680764227
NM_031844.3(HNRNPU):c.1086del (p.Trp363fs) rs1680764134
NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs) rs1553282235
NM_031844.3(HNRNPU):c.2217_2218del (p.Gly740fs)
NM_031844.3(HNRNPU):c.310dup (p.Met104fs)
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_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.1015G>T (p.Glu339Ter)
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.3(BRIP1):c.1039del (p.Lys346_Leu347insTer)
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1043del (p.Lys348fs)
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs) rs1603343235
NM_032043.3(BRIP1):c.1056_1077del (p.Tyr353fs)
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter) rs769081927
NM_032043.3(BRIP1):c.1075del (p.Ile359fs)
NM_032043.3(BRIP1):c.1082del (p.Asp361fs) rs587781639
NM_032043.3(BRIP1):c.1098_1102del (p.Cys367fs) rs876660219
NM_032043.3(BRIP1):c.1113T>A (p.Tyr371Ter)
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.1129del (p.Gln376_Ile377insTer) rs1603343101
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.3(BRIP1):c.1158del (p.Glu387fs) rs2145309797
NM_032043.3(BRIP1):c.1196_1197dup (p.Asp400fs)
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs) rs730881647
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
NM_032043.3(BRIP1):c.1210G>T (p.Glu404Ter)
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs) rs1603342258
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
NM_032043.3(BRIP1):c.1230_1251del (p.Thr411fs) rs786202415
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs) rs2077949826
NM_032043.3(BRIP1):c.1254_1255del (p.Arg419fs)
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer) rs2077948208
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1292_1304del (p.Arg431fs)
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter) rs1555607070
NM_032043.3(BRIP1):c.1338del (p.Asn447fs)
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
NM_032043.3(BRIP1):c.1348G>T (p.Glu450Ter) rs2077857156
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.136_137del (p.Pro47fs)
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
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.1461del (p.Ile489fs) rs1555605866
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs) rs1603340281
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
NM_032043.3(BRIP1):c.147_151dup (p.Gly51fs)
NM_032043.3(BRIP1):c.1483del (p.Ser495fs)
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1524del (p.Ile507_Tyr508insTer)
NM_032043.3(BRIP1):c.1614del (p.Phe538fs) rs2077667669
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter) rs2078949879
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.1674G>A (p.Trp558Ter) rs2145095898
NM_032043.3(BRIP1):c.1679del (p.Asn560fs)
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs) rs2077610620
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.1707del (p.Leu570fs) rs2077609211
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs) rs587778131
NM_032043.3(BRIP1):c.1731_1747del (p.Lys578fs)
NM_032043.3(BRIP1):c.1736del (p.Arg579fs)
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter) rs1356014648
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
NM_032043.3(BRIP1):c.1758del (p.His587fs)
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.3(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.3(BRIP1):c.1853C>G (p.Ser618Ter)
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
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.189G>A (p.Trp63Ter) rs1603367647
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter) rs2145849937
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.1958C>G (p.Ser653Ter)
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1987dup (p.Thr663fs) rs1603328816
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.2017C>T (p.Gln673Ter)
NM_032043.3(BRIP1):c.2026dup (p.Val676fs) rs1603328667
NM_032043.3(BRIP1):c.2030del (p.Gly677fs) rs1555601064
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2039T>A (p.Leu680Ter)
NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs) rs2077534283
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs) rs1060501772
NM_032043.3(BRIP1):c.2088del (p.Ser697fs)
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter) rs1603328406
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter) rs876658270
NM_032043.3(BRIP1):c.2104G>T (p.Glu702Ter)
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
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.2138del (p.Leu713fs)
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2197del (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2218del (p.Gln740fs) rs1555591365
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.2253_2254del (p.Lys752fs) rs1555591308
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2264del (p.Ala755fs)
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.2330del (p.Arg777fs) rs1064794689
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
NM_032043.3(BRIP1):c.2358del (p.Pro787fs)
NM_032043.3(BRIP1):c.2365del (p.Asn788_Val789insTer)
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.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
NM_032043.3(BRIP1):c.2446_2447delinsGTCTTCTACCTGGCCT (p.Trp816fs)
NM_032043.3(BRIP1):c.2474dup (p.Leu825fs)
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs) rs2061478781
NM_032043.3(BRIP1):c.2518_2519del (p.Gly840fs) rs1555574796
NM_032043.3(BRIP1):c.2519del (p.Gly840fs)
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter) rs2145830278
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.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.3(BRIP1):c.2595del (p.Gln866fs) rs587781974
NM_032043.3(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
NM_032043.3(BRIP1):c.2737del (p.Ser913fs) rs1555573386
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.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2820del (p.Ile941fs)
NM_032043.3(BRIP1):c.2827_2828del (p.Val943fs) rs1260994999
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.2833del (p.Glu945fs) rs876659212
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.285dup (p.Thr96fs)
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2923G>T (p.Glu975Ter) rs1603275707
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.2962del (p.Ser988fs) rs2061324917
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.2997_2998del (p.Arg999fs) rs1603275616
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
NM_032043.3(BRIP1):c.308del (p.Gly103fs) rs1555617834
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter) rs1555617829
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs) rs1603366250
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter) rs786203890
NM_032043.3(BRIP1):c.356del (p.Asn119fs) rs2145826750
NM_032043.3(BRIP1):c.382_383del (p.Ser128fs) rs1603362725
NM_032043.3(BRIP1):c.386del (p.Pro129fs) 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.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.448G>T (p.Glu150Ter) rs762701532
NM_032043.3(BRIP1):c.462del (p.Gln155fs)
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
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.511A>T (p.Arg171Ter)
NM_032043.3(BRIP1):c.512dup (p.Arg173fs) rs1603361705
NM_032043.3(BRIP1):c.535G>T (p.Glu179Ter) rs1555615784
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.3(BRIP1):c.584_585del (p.Leu195fs) rs1555615743
NM_032043.3(BRIP1):c.598del (p.Glu200fs) rs1603361587
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
NM_032043.3(BRIP1):c.615_616del (p.Ser206fs) rs1603361558
NM_032043.3(BRIP1):c.616del (p.Ser206fs)
NM_032043.3(BRIP1):c.637del (p.His213fs)
NM_032043.3(BRIP1):c.646del (p.Arg216fs) rs1603347042
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter) rs1603346983
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.708dup (p.His237fs) rs1555609298
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
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.781dup (p.Arg261fs)
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs) rs1603368490
NM_032043.3(BRIP1):c.804T>G (p.Tyr268Ter) rs587782514
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.844dup (p.Thr282fs) rs2145414039
NM_032043.3(BRIP1):c.866del (p.Val289fs) rs864622166
NM_032043.3(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.3(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.3(BRIP1):c.942del (p.His314fs) rs2077993152
NM_032043.3(BRIP1):c.958del (p.Ser320fs) rs864622236
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs) rs2145339188
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032217.5(ANKRD17):c.1483G>T (p.Glu495Ter)
NM_032217.5(ANKRD17):c.6502dup (p.Gln2168fs)
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032436.4(CHAMP1):c.1170del (p.Ser389_Trp390insTer)
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) rs797044962
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) rs782397980
NM_032436.4(CHAMP1):c.1559_1560del (p.Ser520fs) rs2087233948
NM_032436.4(CHAMP1):c.1952C>G (p.Ser651Ter) rs1555379911
NM_032578.4(MYPN):c.1105dup (p.Asp369fs)
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.1407T>A (p.Tyr469Ter)
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
NM_032578.4(MYPN):c.1511del (p.Glu504fs)
NM_032578.4(MYPN):c.2445del (p.Pro816fs)
NM_032578.4(MYPN):c.2709C>G (p.Tyr903Ter)
NM_032578.4(MYPN):c.2779G>T (p.Glu927Ter)
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
NM_032588.4(TRIM63):c.481_482del (p.Ser161fs) rs540072010
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032590.5(KDM2B):c.1847G>T (p.Cys616Phe)
NM_032620.4(GTPBP3):c.12del (p.Leu5fs)
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032756.4(HPDL):c.163_164del (p.Leu55fs)
NM_032756.4(HPDL):c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC (p.Leu234fs)
NM_032756.4(HPDL):c.759dup (p.Pro254fs)
NM_032756.4(HPDL):c.789del (p.Pro264fs)
NM_032793.5(MFSD2A):c.456C>A (p.Cys152Ter)
NM_032861.4(SERAC1):c.966del (p.Ile322fs)
NM_032888.4(COL27A1):c.371del (p.Leu124fs) rs1554787366
NM_032888.4(COL27A1):c.5185C>T (p.Gln1729Ter) rs1554829390
NM_033022.4(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)
NM_033109.5(PNPT1):c.1390C>T (p.Arg464Ter) rs2627765
NM_033109.5(PNPT1):c.887_888del (p.Tyr296fs)
NM_033116.6(NEK9):c.2239C>T (p.Gln747Ter)
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1832del (p.Pro611fs)
NM_033380.3(COL4A5):c.2780del (p.Leu927fs)
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.4220del (p.Pro1407fs)
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
NM_033419.5(PGAP3):c.205A>T (p.Lys69Ter)
NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs) rs1555910140
NM_052867.4(NALCN):c.198_201del (p.Leu67fs)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.3823C>T (p.Arg1275Ter)
NM_052867.4(NALCN):c.4197+1G>A rs869312952
NM_052867.4(NALCN):c.4693dup (p.Glu1565fs)
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) rs780843272
NM_052988.5(CDK10):c.178del (p.Gln60fs) rs2060399733
NM_053025.4(MYLK):c.4091_4092del (p.Gln1364fs)
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs) rs1553996086
NM_057175.5(NAA15):c.1447C>T (p.Gln483Ter)
NM_057175.5(NAA15):c.1685_1686del (p.Ile562fs)
NM_057175.5(NAA15):c.168_169del (p.Asn57fs) rs1747217573
NM_057175.5(NAA15):c.2077C>T (p.Gln693Ter)
NM_057175.5(NAA15):c.2298_2299dup (p.Ser767fs)
NM_057175.5(NAA15):c.326G>A (p.Trp109Ter)
NM_058195.4(CDKN2A):c.193G>C (p.Gly65Arg) rs2131147969
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058216.1(RAD51C):c.407_420del14
NM_058216.3(RAD51C):c.122del (p.Val41fs)
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_058216.3(RAD51C):c.144del (p.Glu49fs)
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs) rs2047940629
NM_058216.3(RAD51C):c.158del (p.Ser53fs) rs587782533
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.200_203dup (p.Cys68Ter) rs1555593521
NM_058216.3(RAD51C):c.200_254del (p.Glu67fs)
NM_058216.3(RAD51C):c.213_216del (p.Lys72fs)
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs) rs786202563
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter) rs1555593553
NM_058216.3(RAD51C):c.225del (p.Arg74_Tyr75insTer) rs1064795774
NM_058216.3(RAD51C):c.230del (p.Gly77fs) rs1057519355
NM_058216.3(RAD51C):c.237dup (p.Glu80Ter)
NM_058216.3(RAD51C):c.241_245delinsG (p.Ser81fs)
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs) rs2143721294
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.262_263del (p.Leu88fs)
NM_058216.3(RAD51C):c.265G>T (p.Glu89Ter)
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_058216.3(RAD51C):c.293dup (p.Phe99fs)
NM_058216.3(RAD51C):c.301dup (p.Ile101fs)
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs) rs1567786509
NM_058216.3(RAD51C):c.368_369delinsA (p.Ile123fs)
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter) rs2048021234
NM_058216.3(RAD51C):c.427C>T (p.Gln143Ter)
NM_058216.3(RAD51C):c.432dup (p.Pro145fs) rs1555594590
NM_058216.3(RAD51C):c.434del (p.Pro145fs) rs1598460116
NM_058216.3(RAD51C):c.444dup (p.Gly149fs) rs1555594617
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.464dup (p.Val156fs)
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
NM_058216.3(RAD51C):c.498del (p.Asp167fs) rs746993675
NM_058216.3(RAD51C):c.498dup (p.Asp167Ter)
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) rs587782699
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.519dup (p.Thr174fs) rs1598460710
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.538del (p.Leu180fs)
NM_058216.3(RAD51C):c.551_554delinsAAG (p.Ala184fs)
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs) rs1555594912
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter) rs1330937621
NM_058216.3(RAD51C):c.615_616del (p.His207fs)
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs) rs876659497
NM_058216.3(RAD51C):c.625_628del (p.Tyr209fs) rs1555597132
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.667_671del (p.Val223fs)
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
NM_058216.3(RAD51C):c.795del (p.Ala266fs) rs2143853617
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
NM_058216.3(RAD51C):c.821del (p.Asn274fs) rs1466185247
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.851_854dup (p.Met286fs) rs1060502605
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.858_861dup (p.Thr288fs)
NM_058216.3(RAD51C):c.865_866del (p.Lys289fs)
NM_058216.3(RAD51C):c.878del (p.Asn293fs)
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter) rs2143961567
NM_058216.3(RAD51C):c.917del (p.Gly306fs) rs2143961536
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_078480.3(PUF60):c.376del (p.Ala126fs) rs1554643598
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.496del (p.Thr166fs) rs1554643463
NM_078480.3(PUF60):c.510+1G>T rs1816618311
NM_078480.3(PUF60):c.608dup (p.Arg204fs) rs1816568888
NM_078629.4(MSL3):c.1125_1141dup (p.Met381fs) rs2053175099
NM_078629.4(MSL3):c.1208del (p.Pro403fs) rs1555907215
NM_078629.4(MSL3):c.1360C>T (p.Gln454Ter) rs2053238794
NM_078629.4(MSL3):c.709_715dup (p.Asn239fs) rs2053146273
NM_078629.4(MSL3):c.909-1G>A
NM_080632.3(UPF3B):c.16G>T (p.Glu6Ter)
NM_080632.3(UPF3B):c.684_685del (p.Glu230fs) rs2147787295
NM_080916.3(DGUOK):c.487del (p.Asp163fs)
NM_130466.4(UBE3B):c.1956+1G>A rs1304422857
NM_130799.2(MEN1):c.1391_1392ins13 (p.?)
NM_130799.2:c.1430_1431insALU
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg) rs2123063830
NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro) rs80356529
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.2661+1G>A rs794727392
NM_130837.3(OPA1):c.2676G>A (p.Trp892Ter)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) rs587781192
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs) rs1555400067
NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs)
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer)
NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del) rs1555380820
NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer) rs1566825063
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) rs398124440
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.745dup (p.Ile249fs)
NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) rs1951433087
NM_130849.4(SLC39A4):c.1023_1475-7del
NM_130849.4(SLC39A4):c.1465_1474+4del rs782563835
NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter)
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.3937dup (p.Thr1313fs)
NM_133433.4(NIPBL):c.4560+2_4560+5del
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) rs1554024009
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.7400_7401insT (p.Phe2468fs) rs1754205019
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7861-1G>A
NM_134261.3(RORA):c.1268_1291delinsAT (p.Phe423fs)
NM_134261.3(RORA):c.184A>T (p.Lys62Ter)
NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter) rs761532715
NM_138459.5(NUS1):c.104G>A (p.Trp35Ter) rs1582461039
NM_138459.5(NUS1):c.443T>A (p.Leu148Ter) rs1773264138
NM_138576.4(BCL11B):c.1192_1196dup (p.Lys400fs) rs1555376295
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138576.4(BCL11B):c.238C>T (p.Gln80Ter) rs1555384301
NM_138576.4(BCL11B):c.721C>T (p.Gln241Ter) rs1314314373
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138694.4(PKHD1):c.4803_4804del (p.Asn1602fs)
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs) rs1064795772
NM_138773.4(SLC25A46):c.273del (p.Gln92fs) rs1022269942
NM_138927.4(SON):c.237_243del (p.Arg78_Tyr79insTer) rs2085617270
NM_138927.4(SON):c.2650C>T (p.Gln884Ter) rs2085802432
NM_138927.4(SON):c.27del (p.Phe9fs)
NM_138927.4(SON):c.3088_3094del (p.Glu1030fs)
NM_138927.4(SON):c.3287dup (p.Tyr1096Ter)
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.384del (p.Lys128fs) rs778418096
NM_138927.4(SON):c.384dup (p.Tyr129fs) rs778418096
NM_138927.4(SON):c.4774_4777del (p.Thr1592fs) rs1555899177
NM_138927.4(SON):c.4777_4778del (p.Leu1593fs) rs2085890040
NM_138927.4(SON):c.5038G>T (p.Glu1680Ter) rs1555899242
NM_138927.4(SON):c.5058dup (p.Glu1687fs) rs2085901333
NM_138927.4(SON):c.5495_5497del (p.Ser1832_Glu1833delinsTer) rs1555899379
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs) rs1382415023
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139058.3(ARX):c.922G>T (p.Glu308Ter) rs1556055108
NM_139125.4(MASP1):c.1039del (p.Ile347fs)
NM_139276.3(STAT3):c.995A>T (p.His332Leu)
NM_139315.3(TAF6):c.958C>T (p.Arg320Ter) rs1457450946
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_144508.5(KNL1):c.4693_4696del (p.Asn1565fs)
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter) rs760452079
NM_144596.4(TTC8):c.1228del (p.Gly409_Ile410insTer)
NM_144991.3(TSPEAR):c.1676_1677del (p.Tyr559fs) rs781890406
NM_144997.5:c.1301_1302del
NM_144997.7(FLCN):c.1014del (p.Trp338fs) rs1131690830
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter) rs2144894376
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1024_1026delinsGAGCTGGCAGCCCCGGAAT (p.Lys342fs)
NM_144997.7(FLCN):c.1029del (p.Pro344fs)
NM_144997.7(FLCN):c.1038dup (p.Lys347fs)
NM_144997.7(FLCN):c.1062+1G>A rs1131690832
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1063-2A>G rs2144871276
NM_144997.7(FLCN):c.1076del (p.Pro359fs)
NM_144997.7(FLCN):c.1098_1102dup (p.Val368fs) rs1131690831
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.113del (p.Ser38fs) rs878855212
NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter) rs2144869206
NM_144997.7(FLCN):c.1153del (p.Gln385fs) rs1555607960
NM_144997.7(FLCN):c.1177-2A>G rs1057520528
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1179del (p.Met394fs) rs398124525
NM_144997.7(FLCN):c.1188del (p.Val397fs) rs1567809782
NM_144997.7(FLCN):c.1203dup (p.Ile402fs) rs398124526
NM_144997.7(FLCN):c.1213dup (p.Tyr405fs) rs1131690837
NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter) rs786202541
NM_144997.7(FLCN):c.1219del (p.Ser407fs) rs878855213
NM_144997.7(FLCN):c.121C>T (p.Gln41Ter) rs1254608489
NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter) rs748148728
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1252dup (p.Leu418fs)
NM_144997.7(FLCN):c.1261dup (p.Ser421fs)
NM_144997.7(FLCN):c.1277_1279delinsAA (p.Ile426fs)
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs) rs1555607640
NM_144997.7(FLCN):c.1286dup (p.His429fs) rs879255675
NM_144997.7(FLCN):c.1293_1300+19del
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1300G>C (p.Glu434Gln)
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter) rs1266098984
NM_144997.7(FLCN):c.1302_1303dup (p.Phe435fs) rs1131690829
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.1309del (p.Val437fs)
NM_144997.7(FLCN):c.1312_1313dup (p.Val439fs)
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs) rs1085307771
NM_144997.7(FLCN):c.1352del (p.Pro451fs) rs1131690828
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
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.1392dup (p.Phe465fs)
NM_144997.7(FLCN):c.1395del (p.Phe465fs)
NM_144997.7(FLCN):c.1426dup (p.Asp476fs) rs1131690835
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1433-1G>T
NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter) rs786202475
NM_144997.7(FLCN):c.145G>T (p.Glu49Ter)
NM_144997.7(FLCN):c.1474_1475delinsG (p.Asn492fs) rs1597578868
NM_144997.7(FLCN):c.1477C>T (p.Gln493Ter) rs2144832772
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs) rs879255679
NM_144997.7(FLCN):c.1487_1495delinsGGACCAGTGGCAC (p.Ser496fs)
NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter) rs886042033
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del) rs879255681
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1539-2A>G rs878855214
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_144997.7(FLCN):c.158del (p.Gln53fs) rs1131690825
NM_144997.7(FLCN):c.1597_1598del (p.Gln533fs) rs876660810
NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs) rs1597574088
NM_144997.7(FLCN):c.1635del (p.Asp545fs)
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.17_21del (p.Ala6fs) rs1597618627
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.199del (p.Ala67fs) rs1555611438
NM_144997.7(FLCN):c.214del (p.Ser72fs) rs1131690824
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.237_240dup (p.Met81fs) rs1597617148
NM_144997.7(FLCN):c.249+1G>T rs1060502369
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.260C>A (p.Ser87Ter)
NM_144997.7(FLCN):c.285T>G (p.Tyr95Ter)
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.299_302del (p.Lys100fs)
NM_144997.7(FLCN):c.301G>T (p.Glu101Ter) rs1597613070
NM_144997.7(FLCN):c.312_316dup (p.Tyr106fs)
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) rs398124535
NM_144997.7(FLCN):c.328C>T (p.Gln110Ter)
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.347dup (p.Leu117fs) rs776896550
NM_144997.7(FLCN):c.381dup (p.Ser128fs) rs2145010299
NM_144997.7(FLCN):c.399_405del (p.Cys134fs)
NM_144997.7(FLCN):c.3del (p.Met1fs) rs1131690838
NM_144997.7(FLCN):c.412G>T (p.Glu138Ter) rs1597607423
NM_144997.7(FLCN):c.420dup (p.Ile141fs) rs2047181267
NM_144997.7(FLCN):c.430G>T (p.Gly144Ter)
NM_144997.7(FLCN):c.44dup (p.Arg17fs) rs1131690839
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs) rs1064792959
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) rs876658409
NM_144997.7(FLCN):c.573_574delinsT (p.Lys192fs)
NM_144997.7(FLCN):c.57_58del (p.Phe20fs) rs2145049426
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs) rs876658390
NM_144997.7(FLCN):c.603_607del (p.Lys203fs) rs1131690836
NM_144997.7(FLCN):c.617dup (p.Val207fs)
NM_144997.7(FLCN):c.618+1G>A
NM_144997.7(FLCN):c.619-1G>A rs1131690840
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter) rs558699420
NM_144997.7(FLCN):c.649C>T (p.Gln217Ter) rs1555609899
NM_144997.7(FLCN):c.658C>T (p.Gln220Ter)
NM_144997.7(FLCN):c.694C>T (p.Gln232Ter)
NM_144997.7(FLCN):c.708del (p.Asn236fs) rs886039369
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter) rs879255663
NM_144997.7(FLCN):c.754dup (p.Ala252fs)
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.7(FLCN):c.779+1G>C rs758175953
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) rs368778627
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.780G>A (p.Trp260Ter) rs1131690826
NM_144997.7(FLCN):c.802del (p.Arg268fs)
NM_144997.7(FLCN):c.838G>T (p.Glu280Ter) rs1060502367
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) rs879255667
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter) rs879255668
NM_144997.7(FLCN):c.887C>G (p.Ser296Ter) rs1490424623
NM_144997.7(FLCN):c.889_890del (p.Glu297fs) rs1597592246
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.897_898dup (p.Asp300fs)
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.938del (p.Leu313fs)
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter) rs587781952
NM_144997.7(FLCN):c.946_947del (p.Ser316fs) rs1597591875
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter) rs2144896021
NM_144997.7(FLCN):c.97dup (p.Asp33fs)
NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter) rs1555721837
NM_145207.3(AFG2A):c.2215dup (p.Ser739fs)
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs) rs1900074141
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.710del (p.Gly237fs)
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2425G>C (p.Ala809Pro)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro) rs1555859157
NM_152416.4(NDUFAF6):c.485dup (p.Asn162fs) rs762093523
NM_152416.4(NDUFAF6):c.561C>G (p.Tyr187Ter) rs1085307635
NM_152419.3(HGSNAT):c.1455dup (p.Gly486fs)
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) rs137852217
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) rs1212294259
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.1279G>T (p.Glu427Ter) rs1809981172
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
NM_152564.5(VPS13B):c.351del (p.Lys117fs)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.5387_5390dup (p.Arg1799fs) rs1554884733
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6748C>T (p.Gln2250Ter) rs1014496937
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg) rs1888490204
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.493dup (p.Ser165fs) rs1555392032
NM_152594.3(SPRED1):c.790delinsAA (p.Pro264fs)
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_152641.4(ARID2):c.1332del (p.Asp444fs) rs1943290352
NM_152641.4(ARID2):c.167_171del (p.Thr56fs)
NM_152641.4(ARID2):c.2168_2174del (p.Ile723fs)
NM_152641.4(ARID2):c.2814_2815del (p.Tyr939fs) rs1943537473
NM_152641.4(ARID2):c.3442_3445del (p.Leu1148fs) rs1555155263
NM_152732.5(RSPH9):c.131_144delinsG (p.Val44fs)
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs) rs727505362
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152783.5(D2HGDH):c.540T>G (p.Tyr180Ter) rs752626142
NM_152906.7(TANGO2):c.451+2T>A rs2047264129
NM_152906.7(TANGO2):c.605+1G>C rs372949028
NM_153006.3(NAGS):c.1097-1G>C rs2143989613
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter) rs2072535700
NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter)
NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter)
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_170606.3(KMT2C):c.11316_11317del (p.Gly3773fs)
NM_170606.3(KMT2C):c.14318del (p.Val4773fs)
NM_170606.3(KMT2C):c.3940C>T (p.Gln1314Ter)
NM_170606.3(KMT2C):c.3989T>G (p.Leu1330Ter)
NM_170606.3(KMT2C):c.4870_4871insTC (p.Gly1624fs) rs2093658427
NM_170606.3(KMT2C):c.7123C>T (p.Gln2375Ter)
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter) rs1555471981
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr) rs267607545
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter) rs267607561
NM_170707.4(LMNA):c.1238del (p.Gly413fs) rs2102890051
NM_170707.4(LMNA):c.1276_1277del (p.Ser426fs) rs1553265865
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1321del (p.Ala441fs) rs2102890974
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1409del (p.Lys470fs)
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) rs57730570
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter) rs2102895466
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter) rs794728595
NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter) rs149339264
NM_170707.4(LMNA):c.1576del (p.Leu526fs)
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.1A>G (p.Met1Val)
NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.2T>A (p.Met1Lys)
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.4(LMNA):c.333_334delinsAT (p.Glu112Ter)
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.496_497dup (p.Gln168fs)
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) rs1558115754
NM_170707.4(LMNA):c.561dup (p.Leu188fs)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)
NM_170707.4(LMNA):c.636_637dup (p.Glu213fs) rs2102879360
NM_170707.4(LMNA):c.679del (p.Val227fs)
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) rs1572359848
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.913C>T (p.Gln305Ter)
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.986dup (p.Arg329_Glu330insTer)
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_172107.4(KCNQ2):c.106del (p.Arg36fs) rs1600886270
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1823del (p.Pro608fs) rs2145497168
NM_172107.4(KCNQ2):c.2114del (p.Pro705fs) rs1555850868
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs) rs796052667
NM_172107.4(KCNQ2):c.267_268del (p.Gly90fs)
NM_172107.4(KCNQ2):c.401del (p.Ile134fs)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.710A>G (p.Tyr237Cys) rs797044935
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172232.4(ABCA5):c.4320+1G>C rs199753304
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_173495.3(PTCHD1):c.1835_1839delinsGAA (p.Met612fs) rs797044922
NM_173495.3(PTCHD1):c.590_603del (p.Val197fs) rs1555912049
NM_173582.6(PGM2L1):c.1303G>T (p.Glu435Ter)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.793dup (p.Cys265fs)
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)
NM_176787.5(PIGN):c.1675-1G>T rs772411133
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1940del (p.Lys647fs) rs1555682938
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter) rs1726067442
NM_176824.3(BBS7):c.174del (p.Phe58fs) rs1726987563
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176869.3(PPA2):c.540T>A (p.Cys180Ter)
NM_177438.2:c.(734+1_735-1)_(2256+1_2257-1)dup
NM_177438.3(DICER1):c.1006G>T (p.Glu336Ter)
NM_177438.3(DICER1):c.1024del (p.Arg342fs) rs1131691218
NM_177438.3(DICER1):c.1029dup (p.Phe344fs) rs1555374772
NM_177438.3(DICER1):c.1052dup (p.Leu352fs)
NM_177438.3(DICER1):c.1125dup (p.Lys376Ter)
NM_177438.3(DICER1):c.1130del (p.Val377fs)
NM_177438.3(DICER1):c.1144G>T (p.Glu382Ter) rs886037667
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_177438.3(DICER1):c.1185_1187delinsC (p.Glu396fs) rs886037668
NM_177438.3(DICER1):c.1227T>G (p.Tyr409Ter)
NM_177438.3(DICER1):c.1234del (p.Trp412fs) rs1555374679
NM_177438.3(DICER1):c.1246G>T (p.Glu416Ter) rs1131691220
NM_177438.3(DICER1):c.1325dup (p.Leu442fs) rs1131691190
NM_177438.3(DICER1):c.1329_1344del (p.Cys443fs) rs1595438051
NM_177438.3(DICER1):c.1341del (p.Phe447fs)
NM_177438.3(DICER1):c.1356C>G (p.Tyr452Ter) rs1131691219
NM_177438.3(DICER1):c.1400_1401del (p.Gln467fs) rs1131691203
NM_177438.3(DICER1):c.1408G>T (p.Glu470Ter) rs886037671
NM_177438.3(DICER1):c.1434_1435del (p.Ile479fs)
NM_177438.3(DICER1):c.1462dup (p.Gln488fs) rs1131691209
NM_177438.3(DICER1):c.1501C>T (p.Gln501Ter) rs1595414962
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1509+1G>A
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter) rs886037672
NM_177438.3(DICER1):c.1532_1533del (p.His511fs) rs1595411687
NM_177438.3(DICER1):c.1534G>T (p.Glu512Ter)
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.1642C>T (p.Gln548Ter) rs2140124358
NM_177438.3(DICER1):c.1684_1685del (p.Met562fs) rs886037674
NM_177438.3(DICER1):c.1686del (p.Met562fs) rs1595410942
NM_177438.3(DICER1):c.1726del (p.Thr578fs) rs1555372838
NM_177438.3(DICER1):c.1732dup (p.Thr578fs) rs1131691193
NM_177438.3(DICER1):c.1749_1753del (p.Glu583fs) rs1131691232
NM_177438.3(DICER1):c.1751del (p.Lys584fs)
NM_177438.3(DICER1):c.1783dup (p.Asp595fs)
NM_177438.3(DICER1):c.1787del (p.Thr596fs) rs886037678
NM_177438.3(DICER1):c.1827_1828insAG (p.Val610fs) rs886037679
NM_177438.3(DICER1):c.1839del (p.Tyr614fs) rs1131691207
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.3(DICER1):c.1880_1883del (p.Ile627fs) rs886037680
NM_177438.3(DICER1):c.1907+1G>A rs1131691217
NM_177438.3(DICER1):c.1910_1911insGA (p.Tyr637Ter) rs886037682
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.3(DICER1):c.2038dup (p.Val680fs)
NM_177438.3(DICER1):c.2040+1G>A rs886037683
NM_177438.3(DICER1):c.2155del (p.Thr719fs)
NM_177438.3(DICER1):c.2158_2159del (p.Thr719_Val720insTer) rs886037685
NM_177438.3(DICER1):c.2166T>G (p.Tyr722Ter) rs1595391320
NM_177438.3(DICER1):c.2181_2187dup (p.Asp730delinsPheAlaTer) rs1131691213
NM_177438.3(DICER1):c.2211del (p.Gly738fs)
NM_177438.3(DICER1):c.2233C>T (p.Arg745Ter) rs1060503584
NM_177438.3(DICER1):c.2243_2244delinsAA (p.Cys748Ter) rs886037687
NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter) rs886037689
NM_177438.3(DICER1):c.2256+1G>A rs1131691231
NM_177438.3(DICER1):c.2304T>A (p.Cys768Ter)
NM_177438.3(DICER1):c.2306dup (p.Tyr769Ter) rs2140033227
NM_177438.3(DICER1):c.2334_2338del (p.Thr779fs)
NM_177438.3(DICER1):c.2350G>T (p.Glu784Ter) rs1131691210
NM_177438.3(DICER1):c.2374del (p.Leu792fs)
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2399del (p.Arg800fs) rs1131691228
NM_177438.3(DICER1):c.2437-1G>A rs1891616173
NM_177438.3(DICER1):c.2488G>T (p.Glu830Ter)
NM_177438.3(DICER1):c.2504_2505dup (p.Phe836fs) rs2140025659
NM_177438.3(DICER1):c.250C>T (p.Gln84Ter)
NM_177438.3(DICER1):c.2529dup (p.Glu844Ter)
NM_177438.3(DICER1):c.256_257del (p.Arg86fs) rs1595466068
NM_177438.3(DICER1):c.256del (p.Arg86fs) rs1555376375
NM_177438.3(DICER1):c.2651-2A>G rs1060503596
NM_177438.3(DICER1):c.2724del (p.Ile909fs)
NM_177438.3(DICER1):c.2749G>T (p.Glu917Ter) rs886037692
NM_177438.3(DICER1):c.2759_2760del (p.Phe920fs)
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.2838T>G (p.Tyr946Ter) rs1185406502
NM_177438.3(DICER1):c.2867del (p.Pro956fs) rs1397948000
NM_177438.3(DICER1):c.287dup (p.Val97fs)
NM_177438.3(DICER1):c.2888_2889del (p.Pro963fs) rs886037695
NM_177438.3(DICER1):c.2988-1G>T rs1131691192
NM_177438.3(DICER1):c.2990_2991del (p.Leu997fs)
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.3(DICER1):c.3019C>T (p.Gln1007Ter) rs1131691189
NM_177438.3(DICER1):c.3038del (p.Pro1013fs)
NM_177438.3(DICER1):c.3045_3054del (p.Ser1015fs) rs1595372666
NM_177438.3(DICER1):c.3073G>T (p.Glu1025Ter) rs1131691225
NM_177438.3(DICER1):c.3082C>T (p.Gln1028Ter) rs2139994282
NM_177438.3(DICER1):c.3209dup (p.Arg1071fs)
NM_177438.3(DICER1):c.322C>T (p.Gln108Ter)
NM_177438.3(DICER1):c.325C>T (p.Gln109Ter)
NM_177438.3(DICER1):c.3268A>T (p.Arg1090Ter)
NM_177438.3(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer) rs886037699
NM_177438.3(DICER1):c.3278_3282del (p.Asn1093fs)
NM_177438.3(DICER1):c.3300del (p.Lys1100fs) rs886037700
NM_177438.3(DICER1):c.3300dup (p.Ser1101fs) rs886037700
NM_177438.3(DICER1):c.3304_3311delinsT (p.Ile1102fs) rs1891190597
NM_177438.3(DICER1):c.3345dup (p.Ala1116fs) rs1131691215
NM_177438.3(DICER1):c.3353dup (p.Asn1118fs)
NM_177438.3(DICER1):c.3359_3360insCCAGAACTAATAA (p.Asn1120_Tyr1121insGlnAsnTer)
NM_177438.3(DICER1):c.3361del (p.Tyr1121fs)
NM_177438.3(DICER1):c.3402del (p.Gln1135fs) rs1595367266
NM_177438.3(DICER1):c.3403C>T (p.Gln1135Ter) rs755711684
NM_177438.3(DICER1):c.343del (p.Thr115fs)
NM_177438.3(DICER1):c.3452_3453del (p.Val1151fs) rs1555369632
NM_177438.3(DICER1):c.3515_3525delinsA (p.Leu1172fs) rs886037701
NM_177438.3(DICER1):c.3516_3525delinsA (p.Thr1173_Ile1175del) rs1555369579
NM_177438.3(DICER1):c.3529_3531delinsTACAGCAG (p.Gly1177fs)
NM_177438.3(DICER1):c.3535_3538del (p.Ser1179fs) rs1131691191
NM_177438.3(DICER1):c.3538_3539del (p.Tyr1180fs) rs886037703
NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter) rs886037704
NM_177438.3(DICER1):c.3540C>G (p.Tyr1180Ter)
NM_177438.3(DICER1):c.3540del (p.Ser1179_Tyr1180insTer)
NM_177438.3(DICER1):c.3578del (p.Asn1193fs)
NM_177438.3(DICER1):c.3583_3584del (p.Asp1195fs) rs1595365941
NM_177438.3(DICER1):c.3589del (p.Cys1197fs) rs886037706
NM_177438.3(DICER1):c.3601C>T (p.Gln1201Ter)
NM_177438.3(DICER1):c.3630del (p.Val1211fs)
NM_177438.3(DICER1):c.3658C>T (p.Gln1220Ter) rs886037707
NM_177438.3(DICER1):c.3669_3670del (p.Tyr1223_Ser1224delinsTer) rs2139962772
NM_177438.3(DICER1):c.3675C>A (p.Tyr1225Ter) rs184830847
NM_177438.3(DICER1):c.3675C>G (p.Tyr1225Ter) rs184830847
NM_177438.3(DICER1):c.3676G>T (p.Glu1226Ter) rs748087536
NM_177438.3(DICER1):c.3688C>T (p.Gln1230Ter) rs1566767799
NM_177438.3(DICER1):c.3710_3711del (p.Leu1237fs)
NM_177438.3(DICER1):c.3726C>A (p.Tyr1242Ter) rs886037708
NM_177438.3(DICER1):c.3726C>G (p.Tyr1242Ter) rs886037708
NM_177438.3(DICER1):c.3802_3806delinsGAAT (p.Ile1268fs)
NM_177438.3(DICER1):c.3856dup (p.Ser1286fs)
NM_177438.3(DICER1):c.3888_3891del (p.Ile1297fs) rs1595364250
NM_177438.3(DICER1):c.3891del (p.Leu1298fs)
NM_177438.3(DICER1):c.3902T>A (p.Leu1301Ter)
NM_177438.3(DICER1):c.3968T>A (p.Leu1323Ter)
NM_177438.3(DICER1):c.397_400delinsGGG (p.Trp133fs)
NM_177438.3(DICER1):c.3989_3990del (p.Tyr1330fs) rs1131691214
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter) rs878855262
NM_177438.3(DICER1):c.4007del (p.Pro1336fs) rs1891071442
NM_177438.3(DICER1):c.4035_4039del (p.Tyr1345_Arg1347delinsTer) rs1891066038
NM_177438.3(DICER1):c.4044del (p.Ser1348fs) rs1131691224
NM_177438.3(DICER1):c.4071dup (p.Arg1358fs) rs1131691216
NM_177438.3(DICER1):c.4085del (p.Lys1362fs) rs1131691195
NM_177438.3(DICER1):c.4085dup (p.Lys1363fs) rs1131691195
NM_177438.3(DICER1):c.408_411del (p.Glu136fs)
NM_177438.3(DICER1):c.4130del (p.Pro1377fs) rs34678453
NM_177438.3(DICER1):c.4140G>A (p.Trp1380Ter) rs1131691205
NM_177438.3(DICER1):c.4175del (p.Ser1392fs)
NM_177438.3(DICER1):c.4190G>A (p.Trp1397Ter) rs886037711
NM_177438.3(DICER1):c.4206+1G>T rs765059994
NM_177438.3(DICER1):c.4264dup (p.Glu1422fs) rs1131691202
NM_177438.3(DICER1):c.4272_4273dup (p.Glu1425fs)
NM_177438.3(DICER1):c.4285del (p.Trp1429fs) rs1131691222
NM_177438.3(DICER1):c.4309_4312del (p.Asp1437fs) rs886037712
NM_177438.3(DICER1):c.4348_4349del (p.Ile1450fs) rs1595341965
NM_177438.3(DICER1):c.4407_4408del (p.Pro1471fs) rs886037713
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.3(DICER1):c.4469dup (p.Gly1490_Ser1491insTer)
NM_177438.3(DICER1):c.4533T>A (p.Tyr1511Ter) rs1131691206
NM_177438.3(DICER1):c.4555del (p.Glu1519fs) rs1131691194
NM_177438.3(DICER1):c.459dup (p.Val154fs) rs1555375978
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs) rs886037717
NM_177438.3(DICER1):c.4621A>T (p.Lys1541Ter) rs886037718
NM_177438.3(DICER1):c.4624del (p.Gln1542fs)
NM_177438.3(DICER1):c.4636_4638delinsGA (p.Tyr1546fs) rs1595340380
NM_177438.3(DICER1):c.4637dup (p.Tyr1546Ter) rs1131691221
NM_177438.3(DICER1):c.4638C>A (p.Tyr1546Ter) rs773822569
NM_177438.3(DICER1):c.4654C>T (p.Gln1552Ter) rs1131691208
NM_177438.3(DICER1):c.4657dup (p.Cys1553fs) rs1131691229
NM_177438.3(DICER1):c.4688_4689dup (p.Glu1564fs)
NM_177438.3(DICER1):c.4712T>G (p.Leu1571Ter)
NM_177438.3(DICER1):c.4796_4800delinsT (p.Arg1599fs)
NM_177438.3(DICER1):c.4798G>T (p.Glu1600Ter)
NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter) rs1131691201
NM_177438.3(DICER1):c.4843_4849dup (p.Leu1617fs)
NM_177438.3(DICER1):c.4853C>A (p.Ser1618Ter) rs377205344
NM_177438.3(DICER1):c.485_492del (p.Gly162fs)
NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer) rs1131691200
NM_177438.3(DICER1):c.4926del (p.Lys1643fs)
NM_177438.3(DICER1):c.4933_4942del (p.Pro1645fs)
NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs) rs886037720
NM_177438.3(DICER1):c.4972del (p.Thr1658fs)
NM_177438.3(DICER1):c.4984del (p.Ile1663fs) rs1131691196
NM_177438.3(DICER1):c.5013_5017del (p.Lys1671fs) rs1595337717
NM_177438.3(DICER1):c.5076C>G (p.Tyr1692Ter)
NM_177438.3(DICER1):c.5096-12G>A rs1566750865
NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter) rs875989780
NM_177438.3(DICER1):c.5104C>T (p.Gln1702Ter) rs886037723
NM_177438.3(DICER1):c.5113G>A (p.Glu1705Lys) rs1890101390
NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn) rs1595331264
NM_177438.3(DICER1):c.5163T>G (p.Tyr1721Ter)
NM_177438.3(DICER1):c.5164dup (p.Glu1722fs)
NM_177438.3(DICER1):c.5235del (p.Phe1745fs) rs1131691199
NM_177438.3(DICER1):c.5299del (p.His1767fs) rs886037727
NM_177438.3(DICER1):c.535del (p.Ala180fs) rs1555375946
NM_177438.3(DICER1):c.5397del (p.Glu1800fs)
NM_177438.3(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup) rs1131691223
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs) rs1566746106
NM_177438.3(DICER1):c.5527G>A (p.Glu1843Lys)
NM_177438.3(DICER1):c.556del (p.Tyr186fs) rs1595458724
NM_177438.3(DICER1):c.559C>T (p.Arg187Ter) rs763801533
NM_177438.3(DICER1):c.615_618del (p.Thr206fs)
NM_177438.3(DICER1):c.642_643del (p.Cys214_Asp215delinsTer)
NM_177438.3(DICER1):c.66_72del (p.Pro23fs)
NM_177438.3(DICER1):c.691A>T (p.Lys231Ter)
NM_177438.3(DICER1):c.711_717del (p.Thr238fs)
NM_177438.3(DICER1):c.731_734del (p.Asp244fs)
NM_177438.3(DICER1):c.787dup (p.Arg263fs)
NM_177438.3(DICER1):c.876_879del (p.Arg293fs) rs1893478668
NM_177438.3(DICER1):c.877del (p.Arg293fs) rs1131691198
NM_177438.3(DICER1):c.878_881del (p.Arg293fs) rs886037733
NM_177438.3(DICER1):c.890T>G (p.Leu297Ter)
NM_177438.3(DICER1):c.890dup (p.Leu297fs)
NM_177438.3(DICER1):c.937dup (p.Leu313fs) rs1131691212
NM_177438.3(DICER1):c.948G>A (p.Trp316Ter) rs2140208028
NM_177438.3(DICER1):c.948_961del (p.Trp316fs) rs1555374817
NM_177438.3(DICER1):c.959_963del (p.Lys320fs)
NM_177438.3(DICER1):c.996C>A (p.Tyr332Ter) rs757094384
NM_177559.3(CSNK2A1):c.383T>A (p.Leu128Ter) rs2018374647
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.783C>A (p.Tyr261Ter) rs1555761969
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_178012.5(TUBB2B):c.421G>A (p.Gly141Ser) rs1412515838
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_178014.4(TUBB):c.895A>G (p.Met299Val) rs587777355
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter) rs1060502829
NM_178452.6(DNAAF1):c.331dup (p.Thr111fs)
NM_181303.2(NLGN3):c.214dup (p.Val72fs) rs34927195
NM_181332.3(NLGN4X):c.1747C>T (p.Arg583Trp) rs1555913640
NM_181332.3(NLGN4X):c.334dup (p.Gln112fs)
NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs)
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701
NM_181426.2(CCDC39):c.1898_1901del (p.Ser633fs)
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs)
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs) rs771057685
NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter)
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs) rs758482424
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_181486.4(TBX5):c.446_465del (p.Met149fs)
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181552.4(CUX1):c.1297C>T (p.Gln433Ter)
NM_181552.4(CUX1):c.1558C>T (p.Gln520Ter) rs1794867368
NM_181552.4(CUX1):c.346C>T (p.Gln116Ter)
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_182641.4(BPTF):c.1447dup (p.Thr483fs) rs2059397603
NM_182641.4(BPTF):c.2060_2061delinsACCA (p.Leu687fs)
NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs) rs2061265539
NM_182641.4(BPTF):c.2366del (p.Asn789fs) rs1555639076
NM_182641.4(BPTF):c.255del (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_182641.4(BPTF):c.7037_7040dup (p.Gln2348fs)
NM_182916.3(TRNT1):c.542_545del (p.Val181fs) rs769317780
NM_182925.5(FLT4):c.488_489dup (p.Gly164fs)
NM_182931.3(KMT2E):c.1016del (p.Asn339fs) rs1797572218
NM_182931.3(KMT2E):c.2337C>A (p.Tyr779Ter) rs541493300
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter) rs1584803745
NM_182931.3(KMT2E):c.262G>T (p.Glu88Ter)
NM_182931.3(KMT2E):c.2632C>T (p.Gln878Ter)
NM_182931.3(KMT2E):c.2960_2964del (p.Asn986_Leu987insTer) rs1798957076
NM_182931.3(KMT2E):c.3198_3234del (p.Trp1067fs) rs1798970895
NM_182931.3(KMT2E):c.4234del (p.Ser1412fs)
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.871C>T (p.Gln291Ter)
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs) rs767024102
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1312dup (p.Arg438fs) rs1553732126
NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met) rs757156390
NM_183357.3(ADCY5):c.409_428del (p.Gly137fs) rs1553751262
NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs) rs1553751262
NM_194277.3(FRMD7):c.3G>A (p.Met1Ile) rs1929193313
NM_194279.4(ISCA2):c.139G>T (p.Glu47Ter)
NM_194292.3(SASS6):c.1186dup (p.Thr396fs) rs1193888919
NM_194318.4(B3GLCT):c.335del (p.Pro112fs) rs2137805318
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs) rs886041209
NM_197968.4(ZMYM2):c.1026_1027del (p.Gln342fs)
NM_197968.4(ZMYM2):c.1129A>T (p.Lys377Ter)
NM_197968.4(ZMYM2):c.1615del (p.Cys539fs)
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter) rs1952668177
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter) rs757669327
NM_197968.4(ZMYM2):c.2727dup (p.Val910fs)
NM_197968.4(ZMYM2):c.391C>T (p.Gln131Ter)
NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)
NM_198173.3(GRHL3):c.934C>T (p.Gln312Ter)
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198239.2(CCN6):c.879dup (p.Thr294fs) rs1554314738
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198525.3(KIF7):c.2530G>T (p.Glu844Ter)
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) rs1376687924
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs) rs2106903309
NM_198880.3(QRICH1):c.1345dup (p.Thr449fs)
NM_198880.3(QRICH1):c.1828G>T (p.Glu610Ter)
NM_198880.3(QRICH1):c.259C>T (p.Gln87Ter)
NM_198880.3(QRICH1):c.325C>T (p.Gln109Ter)
NM_198880.3(QRICH1):c.3G>A (p.Met1Ile)
NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)
NM_198904.4(GABRG2):c.212_215del (p.Asn71fs)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.892A>T (p.Lys298Ter)
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_199334.5(THRA):c.1137del (p.Cys380fs) rs746765465
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_203446.3(SYNJ1):c.1821del (p.Gln608fs) rs1057524879
NM_203446.3(SYNJ1):c.3248-2A>G rs1057524880
NM_203446.3(SYNJ1):c.3296_3297dup (p.Ala1100fs)
NM_203447.4(DOCK8):c.918_919insTTGAACT (p.Asp310fs) rs1064793335
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_203475.3(PORCN):c.566G>A (p.Trp189Ter) rs2147124229
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
NM_205768.3(ZBTB18):c.1035_1039del (p.Glu345fs) rs1553270522
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_206538.4(EMC10):c.289C>T (p.Arg97Ter) rs765552403
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207037.2(TCF12):c.1483del (p.Glu495fs)
NM_207037.2(TCF12):c.1540dup (p.Ser514fs)
NM_207037.2(TCF12):c.798T>G (p.Tyr266Ter) rs1417620080
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)
NM_207346.3(TSEN54):c.505C>T (p.Arg169Ter)
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_212482.4(FN1):c.3051G>T (p.Trp1017Cys) rs797044906
NM_213607.3(DNAAF19):c.115C>T (p.Gln39Ter) rs1060503433
NM_213655.5(WNK1):c.2228_2229dup (p.Thr744fs) rs1307515994
NM_213655.5(WNK1):c.2673_2674del (p.Ala891_Ser892insTer)
NM_213655.5(WNK1):c.2898_2899del (p.Gln966fs) rs1951859185
NM_213655.5(WNK1):c.3274C>T (p.Gln1092Ter)
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter) rs1951913764

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