ClinVar Miner

List of variants reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 2219
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HGVS dbSNP gnomAD frequency
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_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
UGT1A1*6 rs4148323 0.00891
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
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_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 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_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
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_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
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_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
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_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
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_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 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_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 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_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_019844.4(SLCO1B3):c.971-2A>G rs140033394 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 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_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 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_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000298.6(PKLR):c.994G>A (p.Gly332Ser) rs773626254 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 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_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_006446.5(SLCO1B1):c.757C>T (p.Arg253Ter) rs183501729 0.00006
NM_013296.5(GPSM2):c.1062+1G>T rs777695770 0.00006
NM_019844.4(SLCO1B3):c.1135+1G>A rs201833947 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 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_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 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_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 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_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs) rs777998984 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 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_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 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_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 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_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 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.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000133.4(F9):c.301C>G (p.Pro101Ala) rs137852232 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000181.4(GUSB):c.1A>C (p.Met1Leu) rs1382654122 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 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.4426C>T (p.Gln1476Ter) rs374705585 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_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val) rs104894025 0.00002
NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter) rs587777207 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter) rs796051896 0.00001
NM_000016.6(ACADM):c.216+2T>C rs398123073 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe) rs751829413 0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 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_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter) rs886038108 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.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 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.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1316G>T (p.Gly439Val) rs1362305882 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 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_000298.6(PKLR):c.101-1G>A rs1448381947 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000326.5(RLBP1):c.141+2T>C rs760650165 0.00001
NM_000342.4(SLC4A1):c.1431+1G>A rs2047401561 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp) rs80338908 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 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.1673T>C (p.Leu558Ser) rs193922504 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.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 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_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000552.5(VWF):c.1239dup (p.Leu414fs) rs770203987 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 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.2041C>T (p.Arg681Ter) rs768638173 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.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 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_001142864.4(PIEZO1):c.3796+1G>A rs869025599 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) rs780873164 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001364905.1(LRBA):c.2479C>T (p.Arg827Ter) rs779575307 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 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.188A>G (p.Tyr63Cys) rs121918459 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_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) rs755630903 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter) rs1394141324 0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 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.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 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.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) rs886038200 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 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_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 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.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022356.4(P3H1):c.664C>T (p.Gln222Ter) rs1214987088 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 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_181882.3(PRX):c.1390C>T (p.Arg464Ter) rs574861276 0.00001
NC_000023.11:g.154901441CT[1]
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.8993T>G rs199476133
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.6(ACADM):c.232dup (p.Ile78fs) rs2100363479
NM_000016.6(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.469-1G>A rs875989869
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly) rs875989867
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000016.6(ACADM):c.985A>C (p.Lys329Gln) rs77931234
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs) rs1567566228
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter) rs1597533847
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.623-1G>A rs1597526782
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs) rs1565595009
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
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.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.271del (p.Asp91fs) rs1555152526
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.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs) rs1940782251
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.870del (p.Arg291fs) rs1565594157
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) rs1565594238
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) rs2139073732
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs) rs1569541093
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) rs2150641057
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1702-3_1710del rs1826992833
NM_000037.4(ANK1):c.1800+1del
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) rs1825406258
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2102del (p.Gly701fs) rs2150612978
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2389-1G>A rs1822828039
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) rs1820512673
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)
NM_000037.4(ANK1):c.3275del (p.Gln1092fs) rs2150593275
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) rs1586145051
NM_000037.4(ANK1):c.3984+1G>T
NM_000037.4(ANK1):c.3984+2T>C rs1818974494
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) rs2150548107
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) rs2150651762
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1825del (p.Ala608_Val609insTer) rs2149842095
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.2162del (p.Gly721fs) rs2149862015
NM_000038.6(APC):c.2485del (p.Thr829fs) rs1561577476
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2589C>A (p.Tyr863Ter) rs1561578229
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter) rs876658667
NM_000038.6(APC):c.3196del (p.Arg1066fs) rs878853436
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter) rs147411334
NM_000038.6(APC):c.3817A>T (p.Arg1273Ter) rs2149899615
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer) rs2149615315
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs) rs1555092425
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4467del (p.Ser1490fs) rs2135798153
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter) rs1569549695
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter) rs756929892
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) rs1566461818
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs) rs755012990
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.1265del (p.Asn422fs) rs80359273
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.1654del (p.Ser552fs) rs80359297
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs) rs886040384
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs) rs80359324
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter) rs398122742
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4135del (p.Gln1379fs) rs1555283588
NM_000059.4(BRCA2):c.4171dup (p.Glu1391fs)
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer) rs786203340
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs) rs1566229958
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.47_48insATTTCAA (p.Thr17fs)
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.4947_4948del (p.Pro1651fs) rs80359474
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs) rs80359489
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs) rs80359523
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter) rs80358789
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6373_6374insT (p.Thr2125fs)
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter) rs397507859
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs) rs397507375
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs) rs80359623
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8487+1G>A rs81002798
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs) rs397507406
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter) rs398122608
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter) rs431825371
NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter) rs886040798
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs) rs1593936840
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9118-1G>A rs886040950
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.930_931del (p.Cys311fs) rs80359755
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter) rs80359211
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.4(BRCA2):c.9871del (p.Ser3291fs) rs886040854
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)
NM_000071.3(CBS):c.738del rs766453711
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg) rs67416837
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) rs68114505
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2128-1G>C rs67543897
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs) rs2144550352
NM_000088.4(COL1A1):c.2829+1G>A rs72653156
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3925C>T (p.Gln1309Ter) rs2144534607
NM_000088.4(COL1A1):c.878G>A (p.Gly293Asp) rs1567761828
NM_000089.4(COL1A2):c.1658G>A (p.Gly553Asp) rs72658137
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser) rs72659312
NM_000089.4(COL1A2):c.3080G>A (p.Gly1027Glu) rs72659323
NM_000089.4(COL1A2):c.739-2A>T rs72656382
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.4(COL1A2):c.983G>T (p.Gly328Val) rs72656396
NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val) rs587779706
NM_000090.4(COL3A1):c.2102del (p.Pro701fs) rs1559058551
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs) rs1564191682
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000116.5(TAFAZZIN):c.483del (p.Met162fs) rs1557193815
NM_000117.3(EMD):c.187+1G>A rs794729010
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter) rs1557281954
NM_000132.4(F8):c.1352_1353del (p.Thr451fs) rs1603435220
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945del (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.379del (p.Ala127fs) rs1454692506
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.4042A>T (p.Lys1348Ter) rs1297584118
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4473C>G (p.Tyr1491Ter)
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4841del (p.Lys1614fs)
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.508C>T (p.Pro170Ser)
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5605G>A (p.Gly1869Ser) rs1417520379
NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)
NM_000132.4(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5954del (p.Arg1985fs) rs1215569190
NM_000132.4(F8):c.5960_5964del (p.Lys1987fs) rs1569559514
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.6429+5G>A
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.871G>A (p.Glu291Lys)
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1070G>A (p.Gly357Glu) rs137852275
NM_000133.4(F9):c.1106_1113del (p.Leu369fs) rs1603267391
NM_000133.4(F9):c.1113C>A (p.Tyr371Ter) rs1603267398
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.4(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.1173T>A (p.Tyr391Ter) rs1603267411
NM_000133.4(F9):c.1186T>A (p.Cys396Ser) rs1603267420
NM_000133.4(F9):c.1241C>T (p.Pro414Leu) rs1603267443
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.128G>T (p.Arg43Leu) rs1275708479
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.1361T>C (p.Ile454Thr) rs1603267486
NM_000133.4(F9):c.206G>A (p.Cys69Tyr) rs1927497998
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.4(F9):c.226G>A (p.Glu76Lys) rs1603264236
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.260T>G (p.Phe87Cys) rs1603264299
NM_000133.4(F9):c.277G>A (p.Asp93Asn) rs1286009187
NM_000133.4(F9):c.304T>C (p.Cys102Arg) rs1603264719
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.38del (p.Gly13fs) rs1603263376
NM_000133.4(F9):c.392-1G>C rs1603265480
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.422G>A (p.Cys141Tyr) rs1351675410
NM_000133.4(F9):c.427C>T (p.Gln143Ter) rs1603265487
NM_000133.4(F9):c.471T>A (p.Cys157Ter) rs1603265493
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.509G>A (p.Cys170Tyr) rs1603265500
NM_000133.4(F9):c.533G>T (p.Cys178Phe) rs1603265779
NM_000133.4(F9):c.545_546del (p.Ser182fs) rs1433656857
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
NM_000133.4(F9):c.723+1G>A rs1603265832
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.839-1G>A rs1439169192
NM_000133.4(F9):c.88+1G>T rs1603263397
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter) rs1555400374
NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys) rs1555400281
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
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.163G>T (p.Gly55Ter) rs1566944812
NM_000138.5(FBN1):c.1838-1G>T rs1555399840
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1957_1958del (p.Cys652_Val653insTer) rs886041350
NM_000138.5(FBN1):c.1961-2A>G rs1555399779
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3221G>A (p.Cys1074Tyr) rs1555398645
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer) rs1555398170
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) rs1566906389
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.768_769del (p.Cys257fs) rs2043995619
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) rs397515514
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.748C>A (p.Pro250Thr) rs111033759
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.437T>C (p.Leu146Pro)
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter) rs2074944986
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.3(MSH6):c.1392del (p.Ile464fs) rs2104340974
NM_000179.3(MSH6):c.1590del (p.Ser532fs) rs587779216
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) rs756043669
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs) rs1114167721
NM_000179.3(MSH6):c.2429del (p.Glu810fs) rs1572727176
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter) rs75095286
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.4001+2T>A rs267608131
NM_000179.3(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000184.2(HBG2):c.277C>T (p.His93Tyr) rs35103459
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.402del (p.Lys135fs) rs1060500670
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.4(MLH1):c.52del (p.Arg18fs) rs63749804
NM_000249.4(MLH1):c.949del (p.Leu317fs) rs1553648029
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1679del (p.Asn560fs) rs63750054
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2539_2542del (p.Lys847fs) rs1667496297
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.263_264del (p.Phe88fs) rs267607920
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter) rs1558457486
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter) rs1558464008
NM_000251.3(MSH2):c.873_876del (p.Thr292fs) rs587779191
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro) rs1557247556
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) rs1578147448
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2523-1G>A rs1553928728
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.574_575del (p.Arg192fs) rs1578111741
NM_000297.4(PKD2):c.595+1G>C rs1578111778
NM_000297.4(PKD2):c.654_655del (p.Ser219fs) rs1578118330
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys) rs866472917
NM_000298.6(PKLR):c.169C>T (p.Gln57Ter) rs772567442
NM_000298.6(PKLR):c.376-1G>A rs2148208099
NM_000298.6(PKLR):c.507+1G>A rs1572057140
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.938del (p.Lys313fs) rs1554825571
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) rs2138345919
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter) rs1207394743
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.4(SLC4A1):c.1001del (p.Ser334fs)
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1059dup (p.Pro354fs) rs2144615066
NM_000342.4(SLC4A1):c.1117C>T (p.Gln373Ter) rs1472653057
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His) rs1598299485
NM_000342.4(SLC4A1):c.16-1G>A
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs) rs2047398183
NM_000342.4(SLC4A1):c.1790del (p.Phe597fs)
NM_000342.4(SLC4A1):c.1915A>T (p.Lys639Ter)
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2057+1G>A rs2047371081
NM_000342.4(SLC4A1):c.2057+1G>C rs2047371081
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.243G>A (p.Trp81Ter) rs1598302037
NM_000342.4(SLC4A1):c.2501A>C (p.His834Pro) rs2144596569
NM_000342.4(SLC4A1):c.407_408del (p.Leu136fs)
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000346.4(SOX9):c.1099_1100delinsG (p.Pro367fs) rs1555629374
NM_000346.4(SOX9):c.1312_1330del (p.Ser438fs) rs1598176962
NM_000346.4(SOX9):c.1351_1360del (p.Tyr451fs)
NM_000346.4(SOX9):c.344G>A (p.Trp115Ter) rs1567910274
NM_000346.4(SOX9):c.376C>T (p.Gln126Ter)
NM_000346.4(SOX9):c.393_394del (p.His131fs) rs1908102423
NM_000352.6(ABCC8):c.725del (p.Lys242fs) rs1957196622
NM_000368.5(TSC1):c.2074del (p.Arg692fs)
NM_000368.5(TSC1):c.2278_2291del (p.Arg760fs)
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+1G>A rs118203438
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
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.205A>C (p.Thr69Pro)
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.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.537+1G>T rs2103384749
NM_000397.4(CYBB):c.809G>A (p.Trp270Ter) rs1929431693
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.341-2A>T
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe) rs773539041
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000451.4(SHOX):c.582C>A (p.Cys194Ter)
NM_000455.5(STK11):c.772del (p.Asp258fs) rs1599927589
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys) rs80338909
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1210-11delinsGTG rs1584793368
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
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.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2989-2A>G rs193922515
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.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
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.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs) rs2116166806
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.394_398del (p.Ile132fs) rs1798854245
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.130T>G (p.Phe44Val)
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp) rs281864846
NM_000517.6(HBA2):c.1del (p.Met1fs) rs587776828
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.345del (p.Ala116fs) rs746988006
NM_000517.6(HBA2):c.358C>T (p.Pro120Ser) rs1262943621
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.45G>A (p.Trp15Ter) rs63750367
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr) rs41467944
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000517.6(HBA2):c.95+1G>C
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000517.6(HBA2):c.99G>A (p.Met33Ile) rs41515552
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-137C>T rs33941377
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) rs63750099
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.162del (p.Val55fs) rs1554917935
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.219_220del (p.Ser73fs) rs1564875145
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) rs35693898
NM_000518.5(HBB):c.279C>A (p.His93Gln) rs34083951
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000531.6(OTC):c.67C>T (p.Arg23Ter) rs72552300
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1139_1149del (p.Val380fs)
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.872del (p.Pro291fs) rs587776825
NM_000545.8(HNF1A):c.942del (p.Ser315fs)
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.416del (p.Lys139fs) rs1597371266
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) rs45509094
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2184C>A (p.Cys728Ter) rs1555506557
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter) rs45475594
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.4144_4145del (p.Leu1382fs)
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4883dup (p.Asp1629fs) rs2151585265
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.855C>G (p.Tyr285Ter) rs794726983
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
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.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.221-2A>T
NM_000552.5(VWF):c.3231del (p.Glu1078fs)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val) rs61750089
NM_000552.5(VWF):c.4413dup (p.Asp1472fs)
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) rs1591862022
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.1A>G (p.Met1Val)
NM_000558.5(HBA1):c.283_300+3dup rs1902161681
NM_000558.5(HBA1):c.300+1G>T rs758093235
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter) rs1596573335
NM_000558.5(HBA1):c.95+1G>A rs1201093320
NM_000558.5(HBA1):c.96-2A>G
NM_000558.5(HBA1):c.98T>A (p.Met33Lys) rs281864566
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs) rs1596503384
NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter) rs1567159623
NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs) rs1567159386
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) rs1555446105
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11538-2del rs1555445595
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs) rs1596480112
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.1199del (p.Arg400fs) rs2092665134
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter) rs1188292999
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs) rs1567215697
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1772del (p.Thr591fs) rs1567213901
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.2085del (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter) rs145263744
NM_001009944.3(PKD1):c.3932del (p.Ala1311fs) rs1567201999
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs) rs2092440406
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.7214G>A (p.Trp2405Ter) rs1555453244
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs) rs1567183784
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter) rs374629549
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter) rs1597682137
NM_001042492.3(NF1):c.1178del (p.His393fs) rs1555611037
NM_001042492.3(NF1):c.1185+2T>G rs1555611043
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter) rs1567841799
NM_001042492.3(NF1):c.1532del (p.Pro511fs) rs1597703352
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1672del (p.Ile558fs) rs1567845057
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.2077_2078del (p.Met693fs) rs1555613795
NM_001042492.3(NF1):c.2251+2T>C
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter) rs2230852
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs) rs2151429753
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter) rs1567849237
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs) rs1555615447
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_001042492.3(NF1):c.3850del (p.Lys1283_Ile1284insTer)
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer) rs1597735056
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4299dup (p.Arg1434Ter)
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4669del (p.Thr1557fs) rs1597748891
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter) rs1555533292
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs) rs1555533566
NM_001042492.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs) rs1555533880
NM_001042492.3(NF1):c.5780del (p.Leu1927fs) rs1135402880
NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter) rs1567615766
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.5938del (p.Thr1980fs) rs1567615852
NM_001042492.3(NF1):c.6246del (p.Arg2083fs) rs1597842843
NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs) rs1555534755
NM_001042492.3(NF1):c.6428-2A>G rs1060500312
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter) rs1567826110
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.7015G>T (p.Glu2339Ter) rs1060500359
NM_001042492.3(NF1):c.7040del (p.Ser2347fs) rs1597848220
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter) rs1555535417
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter) rs1555536035
NM_001042492.3(NF1):c.731-1G>A rs1555608928
NM_001042492.3(NF1):c.731-1_731del rs1555608925
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter) rs1555536340
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter) rs2070274228
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter) rs1555536687
NM_001042492.3(NF1):c.7964del (p.Pro2655fs) rs1567627268
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001081.4(CUBN):c.2496dup (p.Pro833fs) rs1554816715
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
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.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1145del (p.Cys382fs) rs1564453634
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_001114753.3(ENG):c.1272+2T>C rs1830431391
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1501G>T (p.Gly501Ter) rs372072854
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
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.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1686+1G>T rs1554809228
NM_001114753.3(ENG):c.1701del (p.Val568fs) rs1564452060
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-1G>A rs1554810936
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.41_51del (p.Leu14fs) rs1564466393
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.465dup (p.Ile156fs) rs2131890499
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.574_580del (p.Arg192fs) rs1564456347
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter) rs1554810234
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter) rs1564462827
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001142864.4(PIEZO1):c.5404-1G>C rs2142764905
NM_001142864.4(PIEZO1):c.5632_5633delinsG (p.Lys1878fs) rs1201505647
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter) rs556977377
NM_001204.7(BMPR2):c.1028del (p.Asn343fs) rs1688010642
NM_001204.7(BMPR2):c.1077_1078del (p.Gly360fs) rs1574493773
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1342del (p.Asp448fs) rs1559070248
NM_001204.7(BMPR2):c.1376_1377del (p.Arg459fs) rs1085307342
NM_001204.7(BMPR2):c.146del (p.Ser49fs) rs2105959713
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1506del (p.Glu503fs) rs1553512523
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2569del (p.Arg857fs) rs1688568929
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.369del (p.Leu122_Cys123insTer) rs2105962382
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.689_690del (p.Lys230fs) rs1085307251
NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter) rs1559062859
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) rs2139621075
NM_001355436.2(SPTB):c.1182_1182+9del rs2139613030
NM_001355436.2(SPTB):c.1189del (p.Glu397fs)
NM_001355436.2(SPTB):c.1530G>A (p.Trp510Ter) rs2139602480
NM_001355436.2(SPTB):c.1796-1G>C
NM_001355436.2(SPTB):c.1933G>T (p.Glu645Ter) rs2082718032
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_001355436.2(SPTB):c.2175G>A (p.Trp725Ter)
NM_001355436.2(SPTB):c.281dup (p.Leu95fs) rs2139642530
NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter) rs1594775390
NM_001355436.2(SPTB):c.3202C>T (p.Gln1068Ter)
NM_001355436.2(SPTB):c.3369_3370del (p.Lys1126fs)
NM_001355436.2(SPTB):c.3391C>T (p.Gln1131Ter) rs2082573854
NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter)
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.3984G>A (p.Trp1328Ter)
NM_001355436.2(SPTB):c.4058del (p.Lys1353fs) rs1594770057
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.4407_4410del (p.Lys1471fs) rs2139533094
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.4767C>G (p.Tyr1589Ter) rs746722532
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) rs2139511447
NM_001355436.2(SPTB):c.5197del (p.Arg1733fs)
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.5494G>T (p.Glu1832Ter) rs532526634
NM_001355436.2(SPTB):c.5528_5535del (p.Arg1843fs) rs2139502154
NM_001355436.2(SPTB):c.5941del (p.Arg1981fs) rs2139486055
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs) rs2139480757
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1376del (p.Arg459fs) rs2070346743
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) rs1603411177
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1269G>A (p.Trp423Ter) rs1114167533
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del) rs2136101303
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs) rs2136101131
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.1487del (p.Lys496fs) rs1565637724
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
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.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.496C>T (p.Gln166Ter) rs1565648511
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.655-2A>C rs1941831929
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) rs1565644366
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001374353.1(GLI2):c.2353del (p.Leu785fs) rs1683081860
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)
NM_001376013.1(EPB41):c.628A>G (p.Met210Val) rs1557948192
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001429.4(EP300):c.604C>T (p.Arg202Ter)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) rs1555167156
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3328G>T (p.Gly1110Cys) rs1938737050
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002485.5(NBN):c.1635_1636del (p.Arg546fs) rs1563526063
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) 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.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
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.226G>A (p.Glu76Lys) rs121918464
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.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
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>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002890.3(RASA1):c.1103-2A>C rs1484719321
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter) rs1561300506
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) rs1554048066
NM_002890.3(RASA1):c.1703G>A (p.Trp568Ter) rs1580375996
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter) rs1554049394
NM_002890.3(RASA1):c.2207del (p.His736fs) rs1761365087
NM_002890.3(RASA1):c.2216_2217del (p.Tyr739fs) rs2112492062
NM_002890.3(RASA1):c.2604-2A>C rs1554049882
NM_002890.3(RASA1):c.2925+1G>T rs1762099168
NM_002890.3(RASA1):c.2925+1del rs1762098966
NM_002890.3(RASA1):c.3018del (p.Asp1007fs) rs1561333568
NM_002890.3(RASA1):c.431_438del (p.Pro144fs) rs1580179449
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.934_938del (p.Glu312fs) rs1758098122
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.481del (p.Asp161fs) rs794728949
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003126.4(SPTA1):c.1350+1G>C
NM_003126.4(SPTA1):c.1778del (p.Asp593fs) rs2101908951
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.24+1G>A rs772644757
NM_003126.4(SPTA1):c.2506A>T (p.Arg836Ter)
NM_003126.4(SPTA1):c.2806-3_2806-1del rs1652849551
NM_003126.4(SPTA1):c.2818A>T (p.Lys940Ter) rs1652848700
NM_003126.4(SPTA1):c.2954del (p.Leu985fs)
NM_003126.4(SPTA1):c.3257del (p.Leu1086fs) rs1652531375
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.481C>T (p.Gln161Ter) rs1654812809
NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs)
NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter) rs763899069
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer) rs1396249069
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) rs104893626
NM_003482.4(KMT2D):c.8214del (p.Phe2739fs) rs1565790685
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer) rs886043676
NM_004006.3(DMD):c.1249G>T (p.Glu417Ter) rs1057515877
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter) rs886042499
NM_004006.3(DMD):c.1481del (p.Lys494fs) rs1556853022
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter) rs1569230293
NM_004006.3(DMD):c.1704+1G>A rs794727123
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter) rs886041344
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter) rs1603636537
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter) rs1556780711
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter) rs863224985
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter) rs398123883
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter) rs1557383761
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.336G>A (p.Trp112Ter) rs398123936
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter) rs868836192
NM_004006.3(DMD):c.3856G>T (p.Glu1286Ter) rs1569562570
NM_004006.3(DMD):c.4060del (p.Leu1354fs) rs1557357445
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter) rs398123948
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs) rs1064793479
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter) rs1557320194
NM_004006.3(DMD):c.4845+2T>G rs1557315881
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter) rs777864641
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter) rs1057520764
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6276C>G (p.Tyr2092Ter) rs1569555987
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.3(DMD):c.631A>T (p.Lys211Ter) rs2148750714
NM_004006.3(DMD):c.6614+2T>C rs1060502641
NM_004006.3(DMD):c.6868A>T (p.Lys2290Ter) rs2094827879
NM_004006.3(DMD):c.686T>G (p.Leu229Ter) rs1556930769
NM_004006.3(DMD):c.6874G>T (p.Glu2292Ter) rs1569515486
NM_004006.3(DMD):c.6911del (p.Lys2304fs) rs2149988984
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter) rs1556790316
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter) rs1556764743
NM_004006.3(DMD):c.8391-2A>G rs1556665303
NM_004006.3(DMD):c.8524C>T (p.Gln2842Ter) rs1569547229
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter) rs1556656298
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.9180del (p.Trp3061fs) rs1569526156
NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly) rs1556280638
NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter) rs1569463953
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter) rs398124104
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.2037_2061dup (p.Cys688delinsHisLeuArgGlyGlnArgValTer) rs2152139420
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004444.5(EPHB4):c.1180C>T (p.Arg394Ter) rs994651018
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.605_606del (p.Val202fs) rs1813260006
NM_004444.5(EPHB4):c.805C>T (p.Arg269Ter) rs1049858988
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys) rs137853021
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.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
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.797C>A (p.Thr266Lys) rs137852812
NM_005902.4(SMAD3):c.539del (p.Pro180fs) rs1555412294
NM_005909.5(MAP1B):c.6449_6452del (p.Val2150fs)
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006363.6(SEC23B):c.1561C>T (p.Gln521Ter) rs2060303115
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs) rs886039925
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1110del (p.Pro371fs) rs1555592474
NM_007294.4(BRCA1):c.1121del (p.Thr374fs) rs80357612
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1824_1825del (p.Lys608_Asn609insTer) rs2154419366
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter) rs397508929
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
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.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs) rs786202684
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) rs397509002
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer) rs1555588016
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs) rs80357564
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs) rs770256450
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.493C>T (p.His165Tyr) rs119103262
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs) rs1589247025
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs) rs1811203974
NM_017780.4(CHD7):c.1938del (p.Arg646fs) rs1811214899
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) rs1563560149
NM_017780.4(CHD7):c.559C>T (p.Gln187Ter) rs1586248834
NM_017780.4(CHD7):c.6627del (p.Glu2210fs) rs1805560892
NM_017780.4(CHD7):c.6989del (p.Gly2330fs) rs1563664199
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.775del (p.His259fs) rs1809069833
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs) rs78627909
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_020705.2(TBC1D24):c.[338C>A];[476T>C]
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.1831T>G (p.Cys611Gly) rs377767391
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
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>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) rs79781594
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.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_031443.4(CCM2):c.305dup (p.His104fs) rs2128747608
NM_031443.4(CCM2):c.71del (p.Gly24fs) rs1562881854
NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_053274.3(GLMN):c.586_589del (p.Glu196fs) rs925708240
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1188del (p.Val397fs) rs1567809782
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter) rs879255682
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.507G>A (p.Trp169Ter) rs1555610290
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.89del (p.Pro30fs)
NM_147127.5(EVC2):c.1110del (p.Glu371fs) rs1553846613
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_153717.3(EVC):c.1416del (p.Phe473fs) rs768485560
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_172107.4(KCNQ2):c.1089C>A (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_182641.4(BPTF):c.6562_6563del (p.Val2188fs) rs2147907396
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter) rs1584881660
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter) rs2131454006
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1775del (p.Ser592fs) rs1563242833
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer) rs2131308944
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter) rs1554503009
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs) rs1554502927
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744
m.10158T>C rs199476117
m.10197G>A rs267606891
m.3271T>C rs199474658
m.3394T>C rs41460449
m.8344A>G rs118192098

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