ClinVar Miner

List of variants reported as likely pathogenic by Ambry Genetics

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ClinVar version:
Total variants: 8449
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00343
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00188
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00078
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00071
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00066
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer) rs555387669 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00038
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00038
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00036
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00032
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00025
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00025
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) rs1420939606 0.00021
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00021
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00021
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00017
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00017
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00016
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_000373.4(UMPS):c.689G>A (p.Arg230His) rs772815894 0.00014
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys) rs137853202 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_052988.5(CDK10):c.870_871del (p.Trp291fs) rs766960979 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) rs121434407 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_032756.4(HPDL):c.859T>C (p.Tyr287His) rs777360560 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_015465.5(GEMIN5):c.2962A>T (p.Ile988Phe) rs760029026 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00008
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554 0.00008
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00008
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00007
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00007
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00007
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00007
NM_002662.5(PLD1):c.2531A>G (p.His844Arg) rs556433569 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459 0.00007
NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn) rs369726600 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) rs564427867 0.00007
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000251.3(MSH2):c.942G>T (p.Gln314His) rs587779197 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_001283.5(AP1S1):c.291+2T>A rs1310110289 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001365536.1(SCN9A):c.2517G>T (p.Leu839=) rs766730954 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_017721.5(CC2D1A):c.61-2A>G rs200450636 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_139284.3(LGI4):c.61A>T (p.Arg21Ter) rs140614229 0.00006
NM_152743.4(BRAT1):c.283-2A>T rs147005619 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00005
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00005
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00005
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter) rs377278120 0.00005
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) rs146343535 0.00005
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00005
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00005
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00005
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_003579.4(RAD54L):c.1624C>T (p.Arg542Cys) rs374567435 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys) rs145596167 0.00004
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) rs765305996 0.00004
NM_005548.3(KARS1):c.1A>G (p.Met1Val) rs146127444 0.00004
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382 0.00004
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) rs138682654 0.00004
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val) rs753757778 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_017909.4(RMND1):c.1002+3A>C rs974708373 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651 0.00004
NM_022773.4(LMF1):c.1323del (p.Phe441fs) rs760536168 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_138370.3(PKDCC):c.639+1G>T rs763243200 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_182760.4(SUMF1):c.1034G>A (p.Arg345His) rs139267495 0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His) rs397516178 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000369.5(TSHR):c.1342G>A (p.Val448Ile) rs201889708 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly) rs773162208 0.00003
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746 0.00003
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) rs746480833 0.00003
NM_001002294.3(FMO3):c.1499G>A (p.Arg500Gln) rs183949390 0.00003
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00003
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001277115.2(DNAH11):c.10166-1G>C rs1166330097 0.00003
NM_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00003
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00003
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001519.4(BRF1):c.776C>T (p.Thr259Met) rs373957300 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00003
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00003
NM_002439.5(MSH3):c.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2436-1G>A rs200639359 0.00003
NM_002454.3(MTRR):c.1953-6_1953-2del rs767124472 0.00003
NM_002485.5(NBN):c.1397+1_1397+9del rs2129716262 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_004153.4(ORC1):c.2013G>C (p.Leu671=) rs140536267 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_004608.4(TBX6):c.512G>A (p.Arg171His) rs768465241 0.00003
NM_005932.4(MIPEP):c.1053+1G>A rs368537909 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser) rs199894905 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_015160.3(PMPCA):c.1130C>T (p.Ala377Val) rs963172852 0.00003
NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser) rs142346005 0.00003
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg) rs147811057 0.00003
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017849.4(TMEM127):c.398A>G (p.His133Arg) rs587782203 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_018116.4(MSTO1):c.1A>C (p.Met1Leu) rs955399709 0.00003
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs) rs752022363 0.00003
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) rs776248931 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met) rs763632781 0.00003
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032856.5(WDR73):c.21G>A (p.Trp7Ter) rs763696297 0.00003
NM_000026.4(ADSL):c.-49T>C rs1272053459 0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000051.4(ATM):c.2466+1552G>C rs963653732 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995 0.00002
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00002
NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys) rs370803551 0.00002
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000540.3(RYR1):c.10347+1G>A rs111436401 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001098.3(ACO2):c.988C>T (p.Pro330Ser) rs150129663 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00002
NM_001267550.2(TTN):c.49346-1G>A rs869312070 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter) rs1294718974 0.00002
NM_001276270.2(MBD4):c.335+1G>A rs552296498 0.00002
NM_001276270.2(MBD4):c.335G>A (p.Ser112Asn) rs376818323 0.00002
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys) rs769557047 0.00002
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter) rs1403296082 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile) rs1173242313 0.00002
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080 0.00002
NM_005198.5(CHKB):c.224+5G>C rs765251030 0.00002
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys) rs755356387 0.00002
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met) rs774447299 0.00002
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005591.4(MRE11):c.545-1G>A rs1451215042 0.00002
NM_006757.4(TNNT3):c.481-1G>A rs769915398 0.00002
NM_006767.4(LZTR1):c.2326-2A>G rs1475060729 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) rs919111760 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter) rs778649204 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) rs926748713 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys) rs199553576 0.00002
NM_023036.6(DNAI2):c.610+1G>A rs758109864 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu) rs746953590 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_030630.3(HID1):c.1009-1G>T rs757488824 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00002
NC_000011.10:g.47335872C>T rs398123280 0.00001
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000038.6(APC):c.4747A>G (p.Met1583Val) rs753723223 0.00001
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro) rs372520221 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.3077+1G>T rs192810283 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905 0.00001
NM_000051.4(ATM):c.331+2800A>G rs2079044065 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) rs769142993 0.00001
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys) rs758843096 0.00001
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) rs730881384 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser) rs1175177178 0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 0.00001
NM_000051.4(ATM):c.8584+16A>G rs1322889530 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3359-2A>G rs1243923870 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.476-1G>T rs397507340 0.00001
NM_000059.4(BRCA2):c.517-2A>G rs81002858 0.00001
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 0.00001
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022 0.00001
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro) rs80359023 0.00001
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr) rs1555286874 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9501+1G>A rs397508058 0.00001
NM_000059.4(BRCA2):c.9649-1G>C rs1555289898 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002 0.00001
NM_000077.5(CDKN2A):c.241C>T (p.Pro81Ser) rs1334828764 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000093.5(COL5A1):c.1720-11T>A rs863223444 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000136.3(FANCC):c.1155-1G>C rs1554829575 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000153.4(GALC):c.236G>A (p.Arg79His) rs370117160 0.00001
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) rs758737171 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys) rs587782386 0.00001
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe) rs876660151 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3) rs2104583584 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000237.3(LPL):c.589C>T (p.Arg197Cys) rs768128481 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814 0.00001
NM_000249.4(MLH1):c.1874A>C (p.Tyr625Ser) rs748851107 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068 0.00001
NM_000256.3(MYBPC3):c.851+2T>C rs1194615408 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207 0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000277.3(PAH):c.1258A>G (p.Arg420Gly) rs1162831467 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 0.00001
NM_000302.4(PLOD1):c.467-2del rs1440249864 0.00001
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala) rs1274547742 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp) rs1247403237 0.00001
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp) rs143657539 0.00001
NM_000314.8(PTEN):c.313T>G (p.Cys105Gly) rs1303165645 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NM_000334.4(SCN4A):c.692C>T (p.Thr231Met) rs867587467 0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.4296+1G>A rs2061175467 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe) rs958191819 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000372.5(TYR):c.766C>T (p.His256Tyr) rs61754370 0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) rs769256610 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000434.4(NEU1):c.1021+4A>T rs764121323 0.00001
NM_000465.4(BARD1):c.1678-1G>T rs767208318 0.00001
NM_000465.4(BARD1):c.2001+2T>C rs567493750 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) rs199563828 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) rs1791967656 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.-152C>T rs879254367 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr) rs879254913 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys) rs779913921 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.67+1G>A rs762417023 0.00001
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.173T>C (p.Leu58Pro) rs1283674079 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.575G>A (p.Cys192Tyr) rs772404945 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 0.00001
NM_000535.7(PMS2):c.803+5G>A rs939641251 0.00001
NM_000535.7(PMS2):c.903+2T>C rs878854059 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser) rs1001637675 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.340+2T>C rs1407805768 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) rs369428934 0.00001
NM_000687.4(AHCY):c.473C>T (p.Thr158Met) rs769267513 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000791.4(DHFR):c.-476C>G rs1196929384 0.00001
NM_001001344.3(ATP2B3):c.3338C>T (p.Thr1113Met) rs368215361 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.2446-2A>C rs1060501188 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001008212.2(OPTN):c.626+1G>A rs756957223 0.00001
NM_001010874.5(TECRL):c.730+1G>A rs369606261 0.00001
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830 0.00001
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120 0.00001
NM_001040616.3(LINS1):c.2020dup (p.Ser674fs) rs1261920708 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042492.3(NF1):c.1261-1G>A rs2066618707 0.00001
NM_001042492.3(NF1):c.1721+1G>A rs1131691096 0.00001
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001042492.3(NF1):c.3974G>A (p.Arg1325Lys) rs863224447 0.00001
NM_001042492.3(NF1):c.6148-1G>T rs1555534661 0.00001
NM_001042492.3(NF1):c.6705-2A>G rs2069724442 0.00001
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) rs863224502 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro) rs761763725 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 0.00001
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter) rs1171802070 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter) rs1383324318 0.00001
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445 0.00001
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg) rs1380589911 0.00001
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys) rs373617498 0.00001
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu) rs200171469 0.00001
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys) rs968080956 0.00001
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp) rs781422468 0.00001
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val) rs1043865919 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001127511.3(APC):c.-192A>G rs879253784 0.00001
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro) rs1335804396 0.00001
NM_001128425.2(MUTYH):c.36+1G>A rs1553136984 0.00001
NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp) rs1291490743 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001160372.4(TRAPPC9):c.1982-1G>A rs1465738840 0.00001
NM_001163435.3(TBCK):c.720+1G>A rs925343986 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558 0.00001
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001232.4(CASQ2):c.420+1G>A rs368728701 0.00001
NM_001232.4(CASQ2):c.532+1G>A rs1202663155 0.00001
NM_001253852.3(AP4B1):c.470-2A>C rs777825865 0.00001
NM_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr) rs781923856 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter) rs967542291 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003 0.00001
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter) rs1202115268 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) rs1394131775 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter) rs372663057 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.48760+1G>T rs1474000709 0.00001
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter) rs775367836 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter) rs2052670569 0.00001
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer) rs2052216955 0.00001
NM_001267550.2(TTN):c.57262+1G>A rs1468372318 0.00001
NM_001267550.2(TTN):c.57849del (p.Val19284fs) rs776385412 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.6508+1G>T rs1373416532 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.81715C>T (p.Gln27239Ter) rs1408614204 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter) rs1416323929 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206 0.00001
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter) rs780653613 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001277115.2(DNAH11):c.3426-1G>A rs774855011 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154 0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472 0.00001
NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter) rs751948774 0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041 0.00001
NM_001367624.2(ZNF469):c.6297_6298del (p.Gly2100_Asp2101insTer) rs764745826 0.00001
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407 0.00001
NM_001369.3(DNAH5):c.11029-2A>T rs369312501 0.00001
NM_001369.3(DNAH5):c.13338+1G>C rs1219958424 0.00001
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001369.3(DNAH5):c.5883-1G>A rs1195745037 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371904.1(APOA5):c.427del (p.Arg143fs) rs777046568 0.00001
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter) rs758216033 0.00001
NM_001371904.1(APOA5):c.888del (p.Ile296fs) rs1477198098 0.00001
NM_001377303.1(L3MBTL1):c.2041G>T (p.Glu681Ter) rs2019606024 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001397406.1(FDX2):c.3G>T (p.Met1Ile) rs771690392 0.00001
NM_001458.5(FLNC):c.5199+1G>T rs1465588989 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) rs1359321518 0.00001
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu) rs606231416 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001605.3(AARS1):c.817-1G>A rs866662905 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser) rs782790983 0.00001
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614 0.00001
NM_001943.5(DSG2):c.523+1G>C rs553299589 0.00001
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) rs724159946 0.00001
NM_002047.4(GARS1):c.1031+1G>A rs1554338272 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673 0.00001
NM_002439.5(MSH3):c.1341-2A>G rs750876165 0.00001
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter) rs779180469 0.00001
NM_002439.5(MSH3):c.1764-2A>G rs773032453 0.00001
NM_002439.5(MSH3):c.238-2A>G rs1749285874 0.00001
NM_002439.5(MSH3):c.358+2T>G rs1450314617 0.00001
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter) rs770190473 0.00001
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn) rs757164724 0.00001
NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln) rs770907731 0.00001
NM_002485.5(NBN):c.2070+2T>G rs786203223 0.00001
NM_002485.5(NBN):c.2070+2del rs1057517075 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.584+3A>G rs587782407 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002485.5(NBN):c.994G>A (p.Gly332Arg) rs1437392838 0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg) rs1466750124 0.00001
NM_002528.7(NTHL1):c.116-1G>A rs1411394625 0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NM_002529.4(NTRK1):c.2206-11G>A rs1553263326 0.00001
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys) rs1324983370 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln) rs1466885233 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002878.4(RAD51D):c.739-1G>A rs1555567202 0.00001
NM_002878.4(RAD51D):c.904-2A>T rs1403784434 0.00001
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe) rs397516834 0.00001
NM_003000.3(SDHB):c.540G>A (p.Leu180=) rs528442805 0.00001
NM_003000.3(SDHB):c.635T>A (p.Leu212His) rs1307247907 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg) rs1187293049 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.78-1G>A rs786202200 0.00001
NM_003024.3(ITSN1):c.2227G>T (p.Val743Leu) rs755276554 0.00001
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_003193.5(TBCE):c.101G>C (p.Gly34Ala) rs1283368278 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477 0.00001
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His) rs751948498 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003383.5(VLDLR):c.820+1G>A rs1563758564 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met) rs765156550 0.00001
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909 0.00001
NM_003793.4(CTSF):c.1045+1G>T rs1456291681 0.00001
NM_003872.3(NRP2):c.2118del (p.Val707fs) rs779617179 0.00001
NM_003995.4(NPR2):c.1436+1G>T rs897171604 0.00001
NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter) rs1349668409 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004153.4(ORC1):c.2392-1G>T rs869312969 0.00001
NM_004153.4(ORC1):c.721+1G>C rs869312957 0.00001
NM_004168.4(SDHA):c.1220A>G (p.His407Arg) rs374087393 0.00001
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077 0.00001
NM_004168.4(SDHA):c.1352G>A (p.Arg451His) rs370690436 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.1795-3C>G rs544544409 0.00001
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) rs878854630 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg) rs2077379276 0.00001
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_004655.4(AXIN2):c.815+1G>A rs781384784 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly) rs1265090791 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) rs555710402 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065 0.00001
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005431.2(XRCC2):c.39+1G>A rs560785131 0.00001
NM_005431.2(XRCC2):c.39+2T>A rs758499439 0.00001
NM_005431.2(XRCC2):c.49C>T (p.Arg17Ter) rs750903875 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NM_005502.4(ABCA1):c.4175+1G>T rs375247413 0.00001
NM_005502.4(ABCA1):c.6238C>T (p.Arg2080Trp) rs780321144 0.00001
NM_005548.3(KARS1):c.22G>T (p.Glu8Ter) rs869312925 0.00001
NM_005591.4(MRE11):c.1326+2T>G rs1475506136 0.00001
NM_005591.4(MRE11):c.2070+2T>A rs786202801 0.00001
NM_005591.4(MRE11):c.21-1G>A rs1275867494 0.00001
NM_005591.4(MRE11):c.315-2A>G rs876659145 0.00001
NM_005591.4(MRE11):c.402+1G>A rs929767929 0.00001
NM_005732.4(RAD50):c.1052-2A>C rs876660957 0.00001
NM_005732.4(RAD50):c.1245+1G>A rs1561639636 0.00001
NM_005732.4(RAD50):c.129+1G>T rs1339714611 0.00001
NM_005732.4(RAD50):c.129+2T>A rs748086984 0.00001
NM_005732.4(RAD50):c.130-1G>T rs876658784 0.00001
NM_005732.4(RAD50):c.1636-2A>G rs1554098466 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.213+1G>T rs765484171 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.3475+2T>C rs761168506 0.00001
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746 0.00001
NM_006073.4(TRDN):c.22G>C (p.Gly8Arg) rs1350873943 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys) rs760048191 0.00001
NM_006767.4(LZTR1):c.1247T>G (p.Met416Arg) rs1307964821 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1449G>A (p.Gln483=) rs1203145822 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.1785+2T>A rs1448380294 0.00001
NM_006767.4(LZTR1):c.1942+343C>T rs1448197132 0.00001
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr) rs776005012 0.00001
NM_006767.4(LZTR1):c.2069+2T>G rs1274454493 0.00001
NM_006767.4(LZTR1):c.2406+1G>A rs770322736 0.00001
NM_006767.4(LZTR1):c.320+2T>G rs1924364964 0.00001
NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr) rs1301901369 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_006767.4(LZTR1):c.650A>T (p.Glu217Val) rs755984510 0.00001
NM_006767.4(LZTR1):c.651+1G>T rs1450044732 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.898G>A (p.Gly300Arg) rs1569156022 0.00001
NM_006767.4(LZTR1):c.993+2T>G rs1924619856 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1376-27C>G rs780707007 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.792_792+1del rs774831804 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00001
NM_007294.4(BRCA1):c.35A>C (p.Gln12Pro) rs1555601006 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4097-2A>G rs80358019 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.5407-9G>A rs551078372 0.00001
NM_007325.5(GRIA3):c.2T>C (p.Met1Thr) rs752728469 0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014822.4(SEC24D):c.1824+1G>T rs1365665482 0.00001
NM_014908.4(DOLK):c.857G>A (p.Trp286Ter) rs766645192 0.00001
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter) rs761604406 0.00001
NM_015015.3(KDM4B):c.432+1G>A rs1432451428 0.00001
NM_015039.4(NMNAT2):c.695G>A (p.Arg232Gln) rs768849266 0.00001
NM_015114.3(ANKLE2):c.941G>A (p.Arg314Gln) rs778886674 0.00001
NM_015450.3(POT1):c.1506-1G>A rs1418539002 0.00001
NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val) rs1019504966 0.00001
NM_015662.3(IFT172):c.2976-2A>T rs1666303205 0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) rs387906941 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_016030.6(TRAPPC12):c.1530+1G>A rs369187357 0.00001
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val) rs768950892 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_016035.5(COQ4):c.55C>T (p.Gln19Ter) rs1832230836 0.00001
NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu) rs202120684 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017802.4(DNAAF5):c.1615-2A>G rs371542660 0.00001
NM_017837.4(PIGV):c.1253C>A (p.Ala418Asp) rs1271144650 0.00001
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_017841.4(SDHAF2):c.37-2A>G rs1344681005 0.00001
NM_017841.4(SDHAF2):c.370G>A (p.Glu124Lys) rs1237175697 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_017950.4(CCDC40):c.2832+4A>T rs756602466 0.00001
NM_018052.5(VAC14):c.2005G>T (p.Val669Leu) rs1363536856 0.00001
NM_018082.6(POLR3B):c.1263+1G>A rs1565893138 0.00001
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00001
NM_018668.5(VPS33B):c.239+5G>A rs372769808 0.00001
NM_018706.5(DHTKD1):c.2143C>T rs200788729 0.00001
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter) rs139123547 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys) rs371960390 0.00001
NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) rs144242932 0.00001
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter) rs779332260 0.00001
NM_020751.3(COG6):c.1166+1G>A rs1453865021 0.00001
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022167.4(XYLT2):c.1687C>T (p.Arg563Cys) rs150417924 0.00001
NM_022773.4(LMF1):c.966del (p.Phe323fs) rs2544498725 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024417.5(FDXR):c.394-1G>C rs370799304 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys) rs780415750 0.00001
NM_024675.4(PALB2):c.2748+2dup rs1370694908 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3201+1G>T rs587776423 0.00001
NM_024675.4(PALB2):c.3350+4A>C rs180177136 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter) rs202213253 0.00001
NM_030630.3(HID1):c.2002C>T (p.Arg668Ter) rs752532048 0.00001
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444 0.00001
NM_031263.4(HNRNPK):c.65G>A (p.Arg22His) rs1397068742 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs) rs777367075 0.00001
NM_032043.3(BRIP1):c.507G>C (p.Gln169His) rs876660937 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033409.4(SLC52A3):c.1313T>C (p.Leu438Pro) rs1167512470 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.385G>A (p.Val129Ile) rs1555593879 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.571+3142C>T rs1598467175 0.00001
NM_058216.3(RAD51C):c.572-2A>G rs145310733 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) rs1555410784 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_144997.7(FLCN):c.1433-2A>G rs398124528 0.00001
NM_144997.7(FLCN):c.249+5G>A rs1064793127 0.00001
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser) rs1468529365 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_152416.4(NDUFAF6):c.2T>C (p.Met1Thr) rs552141388 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter) rs753670589 0.00001
NM_152730.6(TBC1D32):c.2482-2A>G rs369794331 0.00001
NM_152743.4(BRAT1):c.1134+1G>C rs1407067985 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1608+5G>A rs267607539 0.00001
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_173659.5(RPUSD3):c.724C>T (p.His242Tyr) rs142932960 0.00001
NM_174916.3(UBR1):c.2260C>T (p.Arg754Cys) rs1388367359 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_181426.2(CCDC39):c.1999-2A>T rs1399517463 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181882.3(PRX):c.2853dup (p.Gly952fs) rs1568704829 0.00001
NM_182925.5(FLT4):c.3391G>A (p.Gly1131Ser) rs1554109707 0.00001
NM_183357.3(ADCY5):c.1646+1G>A rs746547282 0.00001
NM_194318.4(B3GLCT):c.459+1G>A rs767361165 0.00001
NM_198253.3(TERT):c.1700C>T (p.Thr567Met) rs886039438 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NC_000002.12:g.178552644_178552645del rs773840992
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000011.10:g.47332705G>C rs730880592
NC_000011.10:g.47338688G>C rs773882783
NC_000015.10:g.43600609_43600610delinsAG rs727503441
NC_000019.10:g.11089393C>T rs879254364
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe) rs2540164872
NM_000020.3(ACVRL1):c.1023C>G (p.Asn341Lys) rs2540164910
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser) rs1565594547
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1111G>A (p.Gly371Ser) rs2139076199
NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His) rs2139076336
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val) rs2540166475
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu) rs1940833669
NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala) rs2540166517
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1208T>C (p.Leu403Pro) rs2540166760
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile) rs2540170652
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu) rs191763644
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) rs771606504
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) rs2139084154
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) rs1940907616
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1378-78T>G rs1168929877
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs) rs2540174463
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) rs1940955941
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) rs863223408
NM_000020.3(ACVRL1):c.1456A>G (p.Lys486Glu) rs113700354
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro) rs1131691346
NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg) rs2540158883
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg) rs2540158927
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser) rs2540159181
NM_000020.3(ACVRL1):c.313+2T>C rs2540159380
NM_000020.3(ACVRL1):c.313_313+1del rs2540159366
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-1G>C rs1565593274
NM_000020.3(ACVRL1):c.526-6C>G rs1438077609
NM_000020.3(ACVRL1):c.526-7C>A rs772776468
NM_000020.3(ACVRL1):c.526-7C>G rs772776468
NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG rs2540158011
NM_000020.3(ACVRL1):c.625+1G>A rs1940767034
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val) rs2540162521
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly) rs2540162558
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.3(ACVRL1):c.794_799del (p.Thr265_Arg267delinsSer) rs2540164101
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro) rs2540164174
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr) rs2540164204
NM_000020.3(ACVRL1):c.839A>G (p.His280Arg) rs2540164236
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) rs1085307411
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.3(ACVRL1):c.926G>T (p.Gly309Val) rs2540164531
NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp) rs2540164646
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu) rs2540164690
NM_000020.3(ACVRL1):c.984C>G (p.His328Gln)
NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn) rs2540164775
NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp) rs2540164781
NM_000027.4(AGA):c.394+1G>A rs2476870839
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys) rs2091726692
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro) rs2522297188
NM_000033.4(ABCD1):c.1585G>A (p.Gly529Ser) rs2148397619
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys) rs398123104
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) rs2091772324
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp) rs1204814114
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.953A>T (p.Asn318Ile) rs1557053223
NM_000038.5:c.8082_8083insALU
NM_000038.5:c.8096_8097insALU
NM_000038.6(APC):c.1292T>G (p.Met431Arg) rs1034113927
NM_000038.6(APC):c.1312+1G>T rs863225310
NM_000038.6(APC):c.135+1G>A rs750508765
NM_000038.6(APC):c.135+1G>C rs750508765
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.136-2A>G rs886039625
NM_000038.6(APC):c.1409-2del rs2149808371
NM_000038.6(APC):c.1409-3T>G rs1554081629
NM_000038.6(APC):c.1409-5A>G rs768109346
NM_000038.6(APC):c.1549-2A>G rs2149813083
NM_000038.6(APC):c.1549-8A>G rs2149813062
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1627-3C>A rs1554082079
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.1743+2156G>C
NM_000038.6(APC):c.1743+2T>A rs2149818637
NM_000038.6(APC):c.1743+2T>C rs2149818637
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1743G>T (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1905A>G (p.Gly635=) rs1580604886
NM_000038.6(APC):c.1958+428G>A rs2533353179
NM_000038.6(APC):c.1959-2A>C rs876658214
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1959-7_1964del rs2149857426
NM_000038.6(APC):c.2033_2057dup (p.Asn686delinsLysTer) rs2533392380
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.221-5T>G rs1057524155
NM_000038.6(APC):c.2478_2500del (p.Leu826fs)
NM_000038.6(APC):c.2516_2528del (p.Gly839fs) rs2533428670
NM_000038.6(APC):c.2618_2620delinsTG (p.Ser873fs) rs2533436971
NM_000038.6(APC):c.2793_2796del (p.His931fs) rs1765265441
NM_000038.6(APC):c.2865del (p.Glu955fs)
NM_000038.6(APC):c.2877_2898del (p.Asn961fs) rs2533456207
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.3218_3224del (p.Thr1073fs)
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer) rs1765424969
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) rs587779790
NM_000038.6(APC):c.3488_3492del (p.Ser1163fs) rs1561585111
NM_000038.6(APC):c.3544_3548del (p.Lys1182fs) rs1765452304
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) rs876660713
NM_000038.6(APC):c.4166_4167dup (p.Val1390fs) rs2533553419
NM_000038.6(APC):c.4174del (p.Ser1392fs) rs1765620003
NM_000038.6(APC):c.422+2T>A rs879254169
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.423-12A>G rs2532409654
NM_000038.6(APC):c.423-3958C>T rs2532360512
NM_000038.6(APC):c.4251dup (p.Ile1418fs) rs2533560020
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs) rs2533570013
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg) rs138367627
NM_000038.6(APC):c.4778dup (p.Pro1594fs) rs1554086185
NM_000038.6(APC):c.4865del (p.Asn1622fs) rs2533604563
NM_000038.6(APC):c.4956del (p.Thr1653fs) rs2533610869
NM_000038.6(APC):c.5091del (p.Asp1698fs)
NM_000038.6(APC):c.5151del (p.Ala1718fs)
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter) rs2149933395
NM_000038.6(APC):c.5228_5229del (p.Val1743fs) rs2149935146
NM_000038.6(APC):c.532-16T>G rs2149638830
NM_000038.6(APC):c.532-934A>T rs1758130321
NM_000038.6(APC):c.5352_5356dup (p.Arg1786fs)
NM_000038.6(APC):c.5383_5384del (p.Ser1795fs) rs2533640475
NM_000038.6(APC):c.5387_5390del (p.Lys1796fs)
NM_000038.6(APC):c.5562C>G (p.Tyr1854Ter) rs2149943308
NM_000038.6(APC):c.5646_5649del (p.Lys1883fs) rs2533657639
NM_000038.6(APC):c.5656_5660del (p.Lys1885_Glu1886insTer)
NM_000038.6(APC):c.5669del (p.Glu1889_Ser1890insTer) rs2533659069
NM_000038.6(APC):c.5873del (p.Asn1958fs)
NM_000038.6(APC):c.6102del (p.Glu2035fs) rs2149957064
NM_000038.6(APC):c.6150_6153del (p.Lys2051fs) rs2533693991
NM_000038.6(APC):c.6230_6231insCA (p.Leu2078fs) rs2533699787
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000038.6(APC):c.6281del (p.Pro2094fs) rs876660816
NM_000038.6(APC):c.6383del (p.Ala2128fs) rs587779803
NM_000038.6(APC):c.645+2T>G rs786202351
NM_000038.6(APC):c.6559G>T (p.Gly2187Ter)
NM_000038.6(APC):c.6567del (p.Gly2190fs) rs2533724417
NM_000038.6(APC):c.6579del (p.Val2194fs) rs775076289
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter) rs2149972499
NM_000038.6(APC):c.6905C>A (p.Ser2302Ter)
NM_000038.6(APC):c.6919dup (p.Ser2307fs) rs2533753984
NM_000038.6(APC):c.7030C>T (p.Gln2344Ter) rs1580677644
NM_000038.6(APC):c.7393_7394del (p.Leu2465fs) rs1554088313
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter) rs143060722
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter) rs1766523945
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter) rs1554088582
NM_000038.6(APC):c.7692dup (p.Arg2565fs) rs1554088600
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs) rs1580686729
NM_000038.6(APC):c.7928dup (p.Ile2644fs) rs2533830101
NM_000038.6(APC):c.7930_7934del (p.Ile2644fs) rs1561619376
NM_000038.6(APC):c.7934dup (p.Tyr2645Ter)
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter) rs2149996574
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8027del (p.Thr2676fs) rs2533838873
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs) rs1580690024
NM_000038.6(APC):c.8152_8153del (p.Leu2718fs) rs2533847974
NM_000038.6(APC):c.8310_8311del (p.His2770fs) rs1561622234
NM_000038.6(APC):c.8332dup (p.Ala2778fs) rs2533860179
NM_000038.6(APC):c.834+3A>T rs1554076230
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.835-8A>G rs1064793022
NM_000038.6(APC):c.8425dup (p.Val2809fs) rs1580693467
NM_000038.6(APC):c.8430dup (p.Asn2811Ter) rs2533867343
NM_000038.6(APC):c.8435del (p.Asn2812fs) rs1766745307
NM_000038.6(APC):c.8436_8440del (p.Asn2812fs)
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter) rs781229935
NM_000038.6(APC):c.8488dup (p.Ser2830fs) rs2533871675
NM_000038.6(APC):c.8529_8531del (p.Ter2844del)
NM_000038.6(APC):c.8530T>C (p.Ter2844Gln)
NM_000038.6(APC):c.8530T>G (p.Ter2844Glu) rs1766772190
NM_000038.6(APC):c.933+2T>G rs1057517559
NM_000038.6(APC):c.933G>A (p.Lys311=) rs1762431806
NM_000038.6(APC):c.933G>C (p.Lys311Asn) rs1762431806
NM_000039.3(APOA1):c.532_533del (p.Ala178fs) rs781350389
NM_000046.5(ARSB):c.730C>A (p.Pro244Thr) rs1751681202
NM_000049.4(ASPA):c.433-2A>G rs63751297
NM_000049.4(ASPA):c.80G>T (p.Gly27Val) rs1457802163
NM_000051.3:c.2839-3insALU
NM_000051.3:c.3167_3168insALU
NM_000051.3:c.3862_3863insALU
NM_000051.3:c.435_436insALU
NM_000051.3:c.4479_4480insL1
NM_000051.3:c.497-18_497-17insALU
NM_000051.3:c.5770_5771insALU
NM_000051.3:c.5889_5890insALU
NM_000051.3:c.5902_5903insALU
NM_000051.3:c.6781_6782insALU
NM_000051.3:c.7374_7375insAlu
NM_000051.3:c.7696_7697insALU
NM_000051.4(ATM):c.1065+1G>C rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-2A>G rs1555069514
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1235+2_1235+10del
NM_000051.4(ATM):c.1236-1G>C rs1408719214
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1236-404C>T
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.4(ATM):c.1607+162A>G rs1591525629
NM_000051.4(ATM):c.1607+1del rs2497254389
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1803-1G>A rs2135352415
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1847_1849del (p.Thr616del) rs2497290700
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.186-1G>C rs1259911051
NM_000051.4(ATM):c.186-1G>T rs1259911051
NM_000051.4(ATM):c.186-1del rs2496918077
NM_000051.4(ATM):c.1898+1_1898+3delinsCTT
NM_000051.4(ATM):c.1899-1G>T rs1555073065
NM_000051.4(ATM):c.1899-20A>C rs774707302
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2124+1del rs2080318979
NM_000051.4(ATM):c.2125-1G>T rs1402299151
NM_000051.4(ATM):c.2125-2A>C rs1565394403
NM_000051.4(ATM):c.2125-2A>G rs1565394403
NM_000051.4(ATM):c.2125-910T>G rs2497337612
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-1G>C rs876659710
NM_000051.4(ATM):c.2251-2A>C rs2135405559
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+2dup rs2497389540
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+5G>A rs1064795969
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+1del rs1131691153
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2639-2A>C rs1591593566
NM_000051.4(ATM):c.2639-7_2639-2del rs2497629416
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2839-2A>G rs1060501703
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2922-2A>G
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser) rs1591604769
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3078-11C>G
NM_000051.4(ATM):c.3078-2A>G rs2135564916
NM_000051.4(ATM):c.3078-2A>T
NM_000051.4(ATM):c.3078-5T>C rs1565427457
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp) rs1555085799
NM_000051.4(ATM):c.3147_3153delinsTTGCATTTTTTTA (p.Leu1049_Glu1051delinsPheCysIlePheLeu)
NM_000051.4(ATM):c.3153+5G>C rs1591608756
NM_000051.4(ATM):c.3153+5G>T rs1591608756
NM_000051.4(ATM):c.3154-1G>T rs1555085973
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.331+2_331+7del rs2496924515
NM_000051.4(ATM):c.331+2dup rs2496924562
NM_000051.4(ATM):c.332-1G>C rs747855862
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+2T>C rs876659430
NM_000051.4(ATM):c.3402+2T>G
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg) rs2135669298
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3576_3576+7del rs2546871694
NM_000051.4(ATM):c.3577-1G>A rs1057517226
NM_000051.4(ATM):c.3577-1G>T rs1057517226
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT rs2546877438
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3746+2T>G rs2135691302
NM_000051.4(ATM):c.3746+3A>T rs2135691310
NM_000051.4(ATM):c.3747-1G>A rs730881364
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-210T>A
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser) rs2082382534
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter) rs2135707910
NM_000051.4(ATM):c.3993+2T>A rs2135710273
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-161G>A
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-2A>C rs587782276
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4110-1G>C rs1060501692
NM_000051.4(ATM):c.4110-2A>G rs2135750262
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4426_4436+14del rs2546910831
NM_000051.4(ATM):c.4435_4436+10del rs2546910992
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys) rs2135767002
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs) rs2546930075
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4905_4909+16del rs2546944337
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+286A>G rs2497030890
NM_000051.4(ATM):c.496+334A>G rs1227216618
NM_000051.4(ATM):c.496+338G>A
NM_000051.4(ATM):c.497-1142dup rs2497112920
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5177+2T>C rs2135893427
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-1G>T rs1555105579
NM_000051.4(ATM):c.5178-296A>G
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu) rs121434223
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5320-2A>T
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal) rs2546980231
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5496+645T>G rs536571390
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5674+1dup rs2546988633
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys) rs2547006471
NM_000051.4(ATM):c.5763-18_5772del rs2547025082
NM_000051.4(ATM):c.5763-2A>G rs876659489
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.4(ATM):c.5918+1G>A rs1591746871
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.6006+1G>A rs786202016
NM_000051.4(ATM):c.6006+1G>C rs786202016
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6007-2A>C rs2136117225
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6096-1G>C rs1591778339
NM_000051.4(ATM):c.6096-2A>G rs1057520704
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6348-1G>T
NM_000051.4(ATM):c.6348-2A>C rs864622367
NM_000051.4(ATM):c.6348-2A>G rs864622367
NM_000051.4(ATM):c.6348-986G>T
NM_000051.4(ATM):c.6348-989del rs1479854121
NM_000051.4(ATM):c.6434A>T (p.Glu2145Val)
NM_000051.4(ATM):c.6451A>C (p.Arg2151=) rs2547148186
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-1G>A rs1591128291
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6573-1G>T rs1591128291
NM_000051.4(ATM):c.661A>T (p.Arg221Ter) rs2135227474
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-3_663-2del rs2497146242
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.6807+1G>C rs2136319435
NM_000051.4(ATM):c.6807+1_6807+7del rs2547207638
NM_000051.4(ATM):c.6808-1G>C rs2085644916
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.4(ATM):c.6975+1G>A rs1565521129
NM_000051.4(ATM):c.6975+1G>T rs1565521129
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.6976-11_6976-8delinsATA rs2547231020
NM_000051.4(ATM):c.6976-1G>C
NM_000051.4(ATM):c.6976-1G>T rs1591141963
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.6976-2A>G rs587782403
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn) rs1310044429
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+1del rs2496890590
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.73-1G>A rs1555054043
NM_000051.4(ATM):c.73-3C>G rs1555054039
NM_000051.4(ATM):c.7306A>G (p.Arg2436Gly) rs1555122335
NM_000051.4(ATM):c.7307+2_7307+4delinsCC rs2547251348
NM_000051.4(ATM):c.7307+2dup rs2086004268
NM_000051.4(ATM):c.7307+3A>T rs1565527512
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7515+1G>C rs1591161831
NM_000051.4(ATM):c.7516-1G>A rs2136490774
NM_000051.4(ATM):c.7516-1G>C rs2136490774
NM_000051.4(ATM):c.7516-1G>T
NM_000051.4(ATM):c.7516-2A>G rs2136490630
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1G>T rs1565532703
NM_000051.4(ATM):c.7630-12_7630-11del rs2547280859
NM_000051.4(ATM):c.7630-1G>A rs2086285148
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7789-29_7789-16del rs2547296556
NM_000051.4(ATM):c.7789-3_7789-2delinsAT rs2547297621
NM_000051.4(ATM):c.7789-4A>G rs2086401774
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7927+1G>C rs1555125532
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.8010+1G>A
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn) rs1013244700
NM_000051.4(ATM):c.8011-1G>C rs1555127017
NM_000051.4(ATM):c.8011-21_8015del rs2547327467
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu) rs879254209
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr) rs587782719
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val) rs2086688080
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.4(ATM):c.8146_8148del (p.Val2716del) rs2547331780
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8151+1G>A rs1591192583
NM_000051.4(ATM):c.8151+1G>C rs1591192583
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8152-1G>C rs1398616877
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.4(ATM):c.8269-14A>G rs114320959
NM_000051.4(ATM):c.8269-2A>G rs2136939497
NM_000051.4(ATM):c.8293G>C (p.Gly2765Arg)
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val) rs1565557835
NM_000051.4(ATM):c.8416_8418+5del rs1591249480
NM_000051.4(ATM):c.8418+2T>C rs1060501713
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8419-1G>A rs1555137920
NM_000051.4(ATM):c.8419-1G>C rs1555137920
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8584+1G>A rs876658182
NM_000051.4(ATM):c.8584+1del rs2547446603
NM_000051.4(ATM):c.8585-1G>A rs876660066
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8585-2A>T
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000051.4(ATM):c.8671+1G>A rs1555139694
NM_000051.4(ATM):c.8671+1G>T rs1555139694
NM_000051.4(ATM):c.8671+1_8671+26del rs2547462926
NM_000051.4(ATM):c.8671+2T>G rs1057516229
NM_000051.4(ATM):c.8671+2del rs2547462972
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>T rs876660088
NM_000051.4(ATM):c.8672-5_8672-1delinsA rs2547514174
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del) rs2547516848
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8786_8786+3del rs1060501569
NM_000051.4(ATM):c.8842_8850+3824del
NM_000051.4(ATM):c.8850+1G>A rs1555143620
NM_000051.4(ATM):c.8850+1G>T rs1555143620
NM_000051.4(ATM):c.8850+1_8850+2dup
NM_000051.4(ATM):c.8850+2T>C rs1555143623
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-2A>T rs886039647
NM_000051.4(ATM):c.8941_8942insT (p.His2981fs) rs2547677239
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs) rs2091211325
NM_000051.4(ATM):c.8967del (p.Glu2990fs) rs2547677906
NM_000051.4(ATM):c.8987+1G>A rs786203631
NM_000051.4(ATM):c.8992_8993del (p.Asp2997_Ile2998insTer)
NM_000051.4(ATM):c.902-1G>A rs1064793518
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9054del (p.Gly3019fs) rs2547684184
NM_000051.4(ATM):c.9071del (p.Thr3024fs) rs2547684822
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878
NM_000051.4(ATM):c.9131del (p.Asn3044fs) rs1591388094
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser) rs2091262802
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) rs1014184765
NM_000053.4(ATP7B):c.3557-2A>G rs1593652717
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.857C>T (p.Pro286Leu) rs1557100917
NM_000057.2(BLM):c.-4-4929_82del
NM_000057.2:c.741_742insALU
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1G>T rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2407-2A>G rs2151166047
NM_000057.4(BLM):c.2555+1G>A rs1555420917
NM_000057.4(BLM):c.2555+1G>C rs1555420917
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly) rs746218707
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3191A>T (p.Asp1064Val) rs367543032
NM_000057.4(BLM):c.3210+1G>A rs2505525790
NM_000057.4(BLM):c.3358+1G>A rs1214154774
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.83C>A (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.90_98+4del rs2505385256
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.99-1G>A rs897262346
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000059.3:c.2484_2485insALU
NM_000059.3:c.2829_2830insALU
NM_000059.3:c.3390_3391insALU
NM_000059.3:c.3834_3835insALU
NM_000059.3:c.4833_4834insALU
NM_000059.3:c.4992_4993insALU
NM_000059.3:c.4993_4994insALU
NM_000059.3:c.5990_5991insL1
NM_000059.3:c.7649_7650insALU
NM_000059.3:c.8814_8815insALU
NM_000059.3:c.8933_8934insALU
NM_000059.3:c.9327_9328insALU
NM_000059.3:c.9451_9452insALU
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.-40+1G>A rs2072249096
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1909+2T>A rs876658577
NM_000059.4(BRCA2):c.1910-1_1914del rs1593895760
NM_000059.4(BRCA2):c.316+1G>T rs397507303
NM_000059.4(BRCA2):c.316+1del rs2548511601
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu) rs80358701
NM_000059.4(BRCA2):c.475+2T>C rs1555280966
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.516+1G>T rs397507762
NM_000059.4(BRCA2):c.516+4A>G rs2137450725
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn) rs80359790
NM_000059.4(BRCA2):c.517-1G>C rs81002849
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys) rs397507768
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) rs397507359
NM_000059.4(BRCA2):c.631+1G>C rs81002897
NM_000059.4(BRCA2):c.631+3A>G rs397507840
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.632-1G>A rs81002820
NM_000059.4(BRCA2):c.67+2T>G rs81002885
NM_000059.4(BRCA2):c.67+3A>C rs1593880835
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.682-1G>C rs81002831
NM_000059.4(BRCA2):c.682-3C>G rs1244178555
NM_000059.4(BRCA2):c.6841+1del rs397507887
NM_000059.4(BRCA2):c.6841+2T>A
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6859_6863del (p.Arg2287fs) rs398122568
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs) rs886040932
NM_000059.4(BRCA2):c.6896dup (p.Asn2299fs) rs886040933
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.6938-6_6938-3del rs1566237728
NM_000059.4(BRCA2):c.7007+2T>G rs886040937
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7435+2T>A rs1434072252
NM_000059.4(BRCA2):c.7435+2T>C rs1434072252
NM_000059.4(BRCA2):c.7436-1G>A rs886040939
NM_000059.4(BRCA2):c.7436-2_7437del rs876659229
NM_000059.4(BRCA2):c.7510_7617+184del rs2548541436
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7618-187G>T rs990732816
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro) rs55647716
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys) rs41293509
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly) rs780715340
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys) rs786202344
NM_000059.4(BRCA2):c.7804_7805+9del rs2548542808
NM_000059.4(BRCA2):c.7806-1G>C rs81002860
NM_000059.4(BRCA2):c.7806-2A>C rs81002836
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro) rs80359008
NM_000059.4(BRCA2):c.7819_7821delinsCCC (p.Thr2607Pro) rs2548545270
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe) rs1174303167
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg) rs1593923998
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr) rs1566244783
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu) rs80359012
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile) rs864622552
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.4(BRCA2):c.793+1G>C rs81002846
NM_000059.4(BRCA2):c.793+1G>T rs81002846
NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly) rs1555286868
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln) rs886037817
NM_000059.4(BRCA2):c.7976+5G>T rs786201180
NM_000059.4(BRCA2):c.7977-1G>A rs81002874
NM_000059.4(BRCA2):c.7977-1G>T rs81002874
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp) rs80359035
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del) rs1593924996
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) rs80359063
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val) rs80359071
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser) rs1555287065
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8331+1G>T rs81002837
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8331+2T>G rs398122602
NM_000059.4(BRCA2):c.8332-1357_8377del
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8332-2A>C rs587782774
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8332-3384A>T rs2072787542
NM_000059.4(BRCA2):c.8332-3C>G rs587782093
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu) rs80359076
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) rs587781689
NM_000059.4(BRCA2):c.8456A>G (p.Asp2819Gly) rs1555287655
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG rs2548550228
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8488-1_8496delinsCT rs1555287731
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8632+2T>C rs397507998
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8633-24_8634del rs886040945
NM_000059.4(BRCA2):c.8633-27_8633-9del rs2548553100
NM_000059.4(BRCA2):c.8633-2A>C rs81002886
NM_000059.4(BRCA2):c.8633-2A>G rs81002886
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT rs2548553097
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+1del rs1593935041
NM_000059.4(BRCA2):c.8754+2T>G rs397507412
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8754+5G>C rs81002813
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8755-2A>G rs1566252482
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG rs2548554885
NM_000059.4(BRCA2):c.8755-6_8755-2del rs2548554880
NM_000059.4(BRCA2):c.8755-9T>A rs397507413
NM_000059.4(BRCA2):c.8953+1G>A rs81002882
NM_000059.4(BRCA2):c.8953+1del rs730881617
NM_000059.4(BRCA2):c.8954-2_8959del rs1566252995
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly) rs1555288459
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly) rs431825373
NM_000059.4(BRCA2):c.9116_9117+4del rs2548555893
NM_000059.4(BRCA2):c.9117+1_9117+2delinsTC rs1566253399
NM_000059.4(BRCA2):c.9117+1del rs869320801
NM_000059.4(BRCA2):c.9117+3A>G rs1555288517
NM_000059.4(BRCA2):c.9117_9117+11del rs1593937758
NM_000059.4(BRCA2):c.9118-2A>T rs81002862
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu) rs80359171
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr) rs876658262
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.4(BRCA2):c.9256+1G>C rs81002883
NM_000059.4(BRCA2):c.9256+2T>A rs1555288591
NM_000059.4(BRCA2):c.9257-1G>A rs81002889
NM_000059.4(BRCA2):c.9257-1G>T rs81002889
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro) rs587782313
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe) rs1555289566
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.9502-1G>A rs1566260055
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA rs2548563596
NM_000059.4(BRCA2):c.9502-8_9504dup rs2548563592
NM_000059.4(BRCA2):c.9649-12T>G rs2137662441
NM_000059.4(BRCA2):c.9649-2A>G rs81002895
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter) rs1555289997
NM_000062.3(SERPING1):c.1187T>G (p.Leu396Arg) rs1945480228
NM_000062.3(SERPING1):c.1223A>G (p.Asp408Gly) rs2495452880
NM_000062.3(SERPING1):c.1493C>T (p.Pro498Leu) rs2495458739
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
NM_000077.5(CDKN2A):c.-21C>T rs762129503
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg) rs1563892591
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) rs763804037
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu) rs763804037
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.5(CDKN2A):c.150+2T>G rs1060501265
NM_000077.5(CDKN2A):c.150G>C (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.151-1G>T rs730881677
NM_000077.5(CDKN2A):c.151-2A>G rs1554654224
NM_000077.5(CDKN2A):c.154ATG[2] (p.Met54del) rs2131096613
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu) rs36204594
NM_000077.5(CDKN2A):c.183GCT[5] (p.Leu65dup) rs2131096063
NM_000077.5(CDKN2A):c.199G>A (p.Gly67Ser) rs758389471
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.202G>C (p.Ala68Pro) rs1819719137
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu) rs876658534
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys) rs2131095688
NM_000077.5(CDKN2A):c.243del (p.Val82fs)
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.5(CDKN2A):c.305C>A (p.Ala102Glu) rs137854598
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) rs1554653956
NM_000077.5(CDKN2A):c.341C>G (p.Pro114Arg) rs121913386
NM_000077.5(CDKN2A):c.353C>T (p.Ala118Val) rs1060501270
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000077.5(CDKN2A):c.457+1G>A rs1587330312
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.457G>A (p.Asp153Asn) rs45476696
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro) rs864622263
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup) rs1563892769
NM_000077.5(CDKN2A):c.58G>C (p.Ala20Pro) rs760065045
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.5(CDKN2A):c.67G>C (p.Gly23Arg) rs1131691186
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.3118G>C (p.Gly1040Arg)
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp) rs2509170044
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys) rs72656332
NM_000088.4(COL1A1):c.388G>T (p.Gly130Cys) rs1555575085
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser) rs72667037
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT rs1555574417
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala) rs68063264
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp) rs2484702812
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp) rs2469126009
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp) rs1688231067
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser) rs2469127914
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.4(COL3A1):c.1268G>C (p.Gly423Ala) rs587779586
NM_000090.4(COL3A1):c.1294-1G>A rs1060500204
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser) rs794728045
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp) rs1688258933
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.4(COL3A1):c.1339G>T (p.Gly447Cys)
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer) rs2153502437
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.4(COL3A1):c.1608+1G>A rs2469133091
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp) rs2153502685
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
NM_000090.4(COL3A1):c.1761+5G>A rs397509372
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu) rs2469138189
NM_000090.4(COL3A1):c.1862_1869+5del rs2469138288
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp) rs111929073
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg) rs121912925
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.4(COL3A1):c.2229+1G>A rs1576468385
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys) rs2153503061
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys) rs587779694
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2383G>C (p.Gly795Arg) rs2469148127
NM_000090.4(COL3A1):c.2401G>A (p.Gly801Ser)
NM_000090.4(COL3A1):c.2680G>T (p.Gly894Cys)
NM_000090.4(COL3A1):c.2690G>T (p.Gly897Val)
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp) rs2469153502
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala) rs587779542
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3122G>C (p.Gly1041Ala)
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.4(COL3A1):c.3275G>C (p.Gly1092Ala)
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp) rs2469162978
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.3526-1G>C rs2153504069
NM_000090.4(COL3A1):c.3823+1_3823+18delinsC
NM_000090.4(COL3A1):c.448-1G>T rs1688078187
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.528+5G>T rs794728038
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.582+2_582+16del rs2469113459
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser) rs587779705
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.4(COL3A1):c.898-2A>G rs1553507574
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000091.5(COL4A3):c.2656+1G>C
NM_000091.5(COL4A3):c.2656+1G>T rs2469770966
NM_000091.5(COL4A3):c.3760G>C (p.Gly1254Arg)
NM_000091.5(COL4A3):c.987+2T>G rs2469586114
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser) rs2472603497
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp) rs2132865321
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_000093.5(COL5A1):c.5370+3_5370+6del rs786200923
NM_000093.5(COL5A1):c.54del (p.Leu19fs) rs2491093863
NM_000093.5(COL5A1):c.655-1G>C rs1554787526
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000100.4(CSTB):c.246_247del (p.Leu82fs) rs763450239
NM_000113.3(TOR1A):c.961del (p.Thr321fs) rs774552108
NM_000117.3(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys) rs751292948
NM_000132.4(F8):c.7031G>A (p.Gly2344Asp) rs1557271042
NM_000133.4(F9):c.1115T>C (p.Leu372Pro) rs1556008584
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.166-2A>G rs587777945
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.457-2A>G rs1825653450
NM_000136.3(FANCC):c.521+1G>T rs145394391
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.997-1G>A rs1588070986
NM_000138.4:c.1783_1784insALU
NM_000138.5(FBN1):c.1074C>G (p.Cys358Trp) rs1555400605
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly) rs886039066
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1147_1147+9del rs2505628570
NM_000138.5(FBN1):c.1148-1G>C rs1555400431
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr) rs2043792070
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp) rs2505617492
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.1600T>C (p.Cys534Arg)
NM_000138.5(FBN1):c.164+1G>C rs794728213
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala) rs2140787387
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg) rs2043746138
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1883G>C (p.Cys628Ser) rs1555399825
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser) rs869025404
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.202T>A (p.Cys68Ser) rs113604459
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2200T>A (p.Cys734Ser) rs2141306513
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2294-1G>A rs1064793914
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe) rs886038984
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp) rs1555399205
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe) rs397515774
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2728+2T>C rs886038898
NM_000138.5(FBN1):c.2729-2A>G rs113813525
NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly) rs1555398994
NM_000138.5(FBN1):c.2855-1G>C rs112202622
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu) rs137854477
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp) rs1555398680
NM_000138.5(FBN1):c.3209-1G>A rs886038956
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg) rs2141293730
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr) rs886038802
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3676G>A (p.Gly1226Arg)
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3793T>G (p.Cys1265Gly)
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr) rs1555398279
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser) rs2505540643
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp) rs886039492
NM_000138.5(FBN1):c.3838+1del
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser) rs1597558920
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.408C>G (p.Cys136Trp) rs1555405039
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr) rs1352478541
NM_000138.5(FBN1):c.4204T>C (p.Cys1402Arg) rs2141279646
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp) rs2141279643
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.5(FBN1):c.4331G>T (p.Cys1444Phe) rs886038940
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4366T>G (p.Cys1456Gly) rs2141275799
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4459+1del rs2505508252
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly) rs112723282
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr) rs886039120
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser) rs112559031
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.47T>C (p.Leu16Pro) rs1555407424
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg) rs2505497067
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser) rs397515814
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg) rs886038838
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5371T>A (p.Cys1791Ser) rs1555396427
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5417G>C (p.Cys1806Ser)
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg) rs2505470826
NM_000138.5(FBN1):c.5542_5545+11del rs2505470327
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr) rs2505661631
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser) rs1555395840
NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp) rs794728236
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr) rs1555395827
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr) rs111239111
NM_000138.5(FBN1):c.5912G>T (p.Cys1971Phe) rs111239111
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037+1G>A rs1064796636
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6049T>G (p.Cys2017Gly) rs1555395486
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe) rs397515830
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg) rs2505438669
NM_000138.5(FBN1):c.6313+3A>T rs1555395256
NM_000138.5(FBN1):c.6314-1G>A rs2505437074
NM_000138.5(FBN1):c.641G>A (p.Gly214Asp) rs2505661388
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6466G>T (p.Gly2156Cys) rs2505435709
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.5(FBN1):c.6821G>C (p.Cys2274Ser) rs2505419990
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp) rs2505419982
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser) rs886038894
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr) rs864622754
NM_000138.5(FBN1):c.7330+1G>T rs1555394433
NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7453+1G>A rs397515851
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser) rs1555394196
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys) rs1566891436
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.785G>T (p.Cys262Phe) rs2505655477
NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr) rs1555393880
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys) rs2505383886
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp) rs1555393837
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.812G>A (p.Cys271Tyr) rs2505655382
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_000138.5(FBN1):c.8436dup (p.Ser2813fs)
NM_000138.5(FBN1):c.8607del (p.Leu2869fs) rs2505370199
NM_000141.5(FGFR2):c.1991G>A (p.Arg664Gln) rs1554907364
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000141.5(FGFR2):c.940-165_978del rs1554928978
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) rs1659852423
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) rs121913119
NM_000143.4(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.4(FH):c.1108+2T>A rs2527319050
NM_000143.4(FH):c.1112A>G (p.Lys371Arg) rs1553340891
NM_000143.4(FH):c.1117_1119del (p.Asn373del) rs1553340884
NM_000143.4(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.4(FH):c.1130G>A (p.Cys377Tyr) rs1553340880
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla) rs2527316690
NM_000143.4(FH):c.1165G>A (p.Gly389Arg) rs2527316660
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del) rs1659806431
NM_000143.4(FH):c.1180G>C (p.Val394Leu)
NM_000143.4(FH):c.1192G>A (p.Gly398Ser) rs2147914878
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.4(FH):c.1236+2T>C rs2527316491
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del) rs2527313025
NM_000143.4(FH):c.1300T>C (p.Cys434Arg) rs1659745968
NM_000143.4(FH):c.132+1G>A
NM_000143.4(FH):c.132+1G>C
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.132+5G>C
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1519_1521del (p.Leu507del) rs2527308315
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.152G>A (p.Arg51Gln) rs976734433
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.245G>A (p.Gly82Glu) rs1558402197
NM_000143.4(FH):c.275TTA[1] (p.Ile93del) rs1573886490
NM_000143.4(FH):c.284C>A (p.Ala95Asp) rs1660148115
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.377A>T (p.Glu126Val) rs1417243893
NM_000143.4(FH):c.378+2T>C rs1131691241
NM_000143.4(FH):c.378G>C (p.Glu126Asp) rs1573886367
NM_000143.4(FH):c.379-1G>C rs1553341623
NM_000143.4(FH):c.379-2A>T
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.4(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.466G>A (p.Val156Ile)
NM_000143.4(FH):c.470T>G (p.Ile157Ser) rs2147921876
NM_000143.4(FH):c.479G>C (p.Arg160Thr) rs2527332608
NM_000143.4(FH):c.482C>A (p.Ala161Glu) rs1307815197
NM_000143.4(FH):c.524T>G (p.Val175Gly) rs2527332504
NM_000143.4(FH):c.555+5G>A rs1553341582
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.559T>C (p.Ser187Pro) rs2527327592
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.562A>G (p.Asn188Asp) rs2527327584
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.653T>G (p.Leu218Arg) rs1553341345
NM_000143.4(FH):c.688A>G (p.Lys230Glu) rs863223967
NM_000143.4(FH):c.700A>C (p.Thr234Pro) rs372505976
NM_000143.4(FH):c.712G>C (p.Asp238His) rs1659989676
NM_000143.4(FH):c.738+1G>T rs1659988368
NM_000143.4(FH):c.738G>C (p.Gln246His) rs2147919372
NM_000143.4(FH):c.739-17_754delinsGAATTGCATAT
NM_000143.4(FH):c.739-1G>T
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.4(FH):c.824G>A (p.Gly275Glu)
NM_000143.4(FH):c.827G>T (p.Gly276Val) rs2147917609
NM_000143.4(FH):c.838G>A (p.Gly280Ser) rs1659921742
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.842C>G (p.Thr281Arg) rs1573881633
NM_000143.4(FH):c.902_904+4del
NM_000143.4(FH):c.905-1G>C rs797044973
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.4(FH):c.950C>T (p.Ala317Val) rs2147916281
NM_000143.4(FH):c.955G>T (p.Asp319Tyr) rs2527319648
NM_000143.4(FH):c.956A>G (p.Asp319Gly) rs1659855240
NM_000143.4(FH):c.956A>T (p.Asp319Val) rs1659855240
NM_000143.4(FH):c.965T>A (p.Val322Asp) rs863224003
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.971T>C (p.Leu324Pro)
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000144.5(FXN):c.11_12del (p.Leu4fs) rs143232208
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000155.4(GALT):c.406G>C (p.Asp136His) rs794727699
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu) rs80338734
NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter) rs1671660634
NM_000157.4(GBA1):c.364G>C (p.Gly122Arg) rs2524844959
NM_000157.4(GBA1):c.517A>G (p.Thr173Ala) rs1441909908
NM_000157.4(GBA1):c.845G>A (p.Gly282Glu) rs2524831565
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000161.3(GCH1):c.343G>A (p.Asp115Asn) rs1393095176
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs) rs2484496497
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn) rs2484493584
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.449_451del (p.Phe150del) rs2484529492
NM_000162.5(GCK):c.455T>C (p.Phe152Ser) rs2484529445
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.466C>G (p.His156Asp) rs1562718043
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.580-1G>C rs1554335421
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet) rs2484522606
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.731T>A (p.Val244Glu) rs2484514615
NM_000162.5(GCK):c.731T>G (p.Val244Gly) rs2484514615
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.753G>A (p.Met251Ile) rs2484514406
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.899A>G (p.Glu300Gly) rs2484507251
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000165.5(GJA1):c.113G>C (p.Gly38Ala) rs1554200990
NM_000165.5(GJA1):c.604C>T (p.Arg202Cys) rs765192739
NM_000165.5(GJA1):c.75G>C (p.Trp25Cys) rs1773898476
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.160A>C (p.Asn54His) rs2092542986
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.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000169.3(GLA):c.1077_1086del (p.Gly360fs) rs2520852645
NM_000169.3(GLA):c.1117G>C (p.Gly373Arg)
NM_000169.3(GLA):c.167G>T (p.Cys56Phe) rs869312258
NM_000169.3(GLA):c.1A>G (p.Met1Val) rs869312265
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.47T>C (p.Leu16Pro) rs869312310
NM_000169.3(GLA):c.512G>A (p.Gly171Asp) rs2520895216
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) rs869312382
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.712A>T (p.Ser238Cys)
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.802-2A>T rs797044499
NM_000169.3(GLA):c.811G>T (p.Gly271Cys)
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.3(GLA):c.962A>G (p.Gln321Arg) rs1928161905
NM_000179.2(MSH6):c.-127_196dup323 rs2530309710
NM_000179.2:c.1826_1827insALU
NM_000179.2:c.3311_3312insSVA rs2530767443
NM_000179.2:c.3510_3511insALU
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del) rs267608043
NM_000179.3(MSH6):c.1239G>C (p.Trp413Cys) rs1114167736
NM_000179.3(MSH6):c.1239G>T (p.Trp413Cys) rs1114167736
NM_000179.3(MSH6):c.1294T>C (p.Phe432Leu) rs2104334088
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1304_1306del (p.Leu435_Tyr436delinsHis)
NM_000179.3(MSH6):c.1316A>G (p.Asp439Gly) rs786202363
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.1723G>T (p.Asp575Tyr) rs863224619
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp) rs63750358
NM_000179.3(MSH6):c.2102T>C (p.Leu701Ser) rs1669420541
NM_000179.3(MSH6):c.2204T>C (p.Leu735Pro) rs1553413574
NM_000179.3(MSH6):c.2276T>C (p.Leu759Pro) rs1553413655
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp) rs63750985
NM_000179.3(MSH6):c.2321T>C (p.Leu774Pro) rs2530664812
NM_000179.3(MSH6):c.2333T>C (p.Leu778Pro) rs2104401359
NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr) rs587779235
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser) rs587779235
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro) rs587779236
NM_000179.3(MSH6):c.2392_2394del (p.Leu798del) rs2530669253
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro) rs2104404366
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn) rs765873566
NM_000179.3(MSH6):c.2559G>T (p.Lys853Asn) rs765873566
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu) rs587781306
NM_000179.3(MSH6):c.260+1G>C rs1553408467
NM_000179.3(MSH6):c.260+2T>G rs1553408469
NM_000179.3(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.3(MSH6):c.261-1G>A rs863225402
NM_000179.3(MSH6):c.261-1G>T
NM_000179.3(MSH6):c.261-2A>C
NM_000179.3(MSH6):c.261-2A>G rs2104098003
NM_000179.3(MSH6):c.261-2del rs2530431138
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg) rs876660185
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis) rs1572729044
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile) rs1558667779
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3172G>T (p.Asp1058Tyr) rs863225404
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-1G>A rs397515875
NM_000179.3(MSH6):c.3173-1del rs2530757487
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser) rs1669748364
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.3(MSH6):c.3400G>A (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser) rs63751063
NM_000179.3(MSH6):c.3415G>T (p.Gly1139Cys) rs63751063
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp) rs1316409501
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3438G>C (p.Gln1146His) rs1114167759
NM_000179.3(MSH6):c.3438G>T (p.Gln1146His) rs1114167759
NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp) rs786202842
NM_000179.3(MSH6):c.3464A>G (p.Gln1155Arg) rs1572738445
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3556+2T>C rs1669882321
NM_000179.3(MSH6):c.3556+3_3556+13del rs587779269
NM_000179.3(MSH6):c.3556+3_3556+6del rs1572739077
NM_000179.3(MSH6):c.3556+4_3556+8del rs1572739119
NM_000179.3(MSH6):c.3557-1G>A rs1114167723
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3557-2A>C rs1558390582
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3578A>T (p.Glu1193Val)
NM_000179.3(MSH6):c.3592G>C (p.Ala1198Pro) rs1669962346
NM_000179.3(MSH6):c.3608A>C (p.His1203Pro) rs1669964889
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro) rs1114167688
NM_000179.3(MSH6):c.3632T>G (p.Leu1211Arg) rs864622041
NM_000179.3(MSH6):c.3646+1G>A rs1553332772
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1del rs1553332768
NM_000179.3(MSH6):c.3646+1dup rs1553332768
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3646+2T>G rs1553332776
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del) rs2104538620
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.3695T>A (p.Val1232Asp) rs786202887
NM_000179.3(MSH6):c.36dup (p.Lys13fs) rs2103932294
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro) rs1553333039
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3791_3801+25del rs2530849276
NM_000179.3(MSH6):c.3798_3801+3delinsAAT
NM_000179.3(MSH6):c.3801+1G>A rs876660943
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000179.3(MSH6):c.3802-14_3809del rs2530853505
NM_000179.3(MSH6):c.3802-15_3802delinsAAGCTAATAGCA rs2530853615
NM_000179.3(MSH6):c.3802-18A>G rs1553333276
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del) rs1572746651
NM_000179.3(MSH6):c.3859_3872dup (p.Lys1291fs)
NM_000179.3(MSH6):c.3859delinsATTA (p.Tyr1287delinsIleAsn) rs1670107084
NM_000179.3(MSH6):c.3886_3917dup (p.Asn1307fs) rs2104558402
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs) rs2530865884
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs) rs1670120965
NM_000179.3(MSH6):c.3918_3948dup (p.His1317Ter)
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs) rs1553333605
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup) rs1670125444
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs) rs2530871089
NM_000179.3(MSH6):c.3936_3953del (p.Ile1313_Arg1318del)
NM_000179.3(MSH6):c.3939_3942delinsAAT (p.Gln1314fs)
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs) rs1553333633
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg) rs773675555
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu) rs876661174
NM_000179.3(MSH6):c.3948_3953delinsCC (p.His1317fs) rs2530873871
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.3(MSH6):c.3957_3958dup (p.Ala1320fs) rs2530875238
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3959dup (p.Arg1321fs) rs2530875536
NM_000179.3(MSH6):c.3961dup (p.Arg1321fs)
NM_000179.3(MSH6):c.3978_3981dup (p.Gln1328fs) rs2530877436
NM_000179.3(MSH6):c.3992_4001+4del rs2530878802
NM_000179.3(MSH6):c.3995T>A (p.Leu1332Ter) rs2104568015
NM_000179.3(MSH6):c.4000_4001+20del rs2530879532
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001+1G>T rs1114167729
NM_000179.3(MSH6):c.4001+1_4001+25del rs2530879705
NM_000179.3(MSH6):c.4001+2T>A rs267608131
NM_000179.3(MSH6):c.4001+3A>C rs1670156041
NM_000179.3(MSH6):c.4002-1G>A rs1302369946
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000179.3(MSH6):c.4002-24_4002-10del rs59056100
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs) rs1670208407
NM_000179.3(MSH6):c.457+1G>T rs2104112957
NM_000179.3(MSH6):c.457+2dup rs876661224
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg) rs1060502885
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys) rs1060502885
NM_000179.3(MSH6):c.458-2A>T rs2104227716
NM_000179.3(MSH6):c.619_627+320delinsAT rs2530524372
NM_000179.3(MSH6):c.627+1G>A rs1572716545
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000194.3(HPRT1):c.140A>T (p.Glu47Val) rs2520785056
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) rs1556026984
NM_000202.8(IDS):c.103G>T (p.Asp35Tyr)
NM_000202.8(IDS):c.1406C>G (p.Pro469Arg) rs2123994360
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.213C>A (p.Ser71Arg) rs2520900915
NM_000202.8(IDS):c.239A>G (p.Gln80Arg) rs2520900502
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000206.3(IL2RG):c.667G>T (p.Val223Phe) rs2092258151
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217del (p.Leu73fs) rs1445970498
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs) rs2500206807
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala) rs1947358808
NM_000217.3(KCNA1):c.745TTC[1] (p.Phe250del) rs113994120
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His) rs794728522
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser) rs199472762
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1105C>G (p.Pro369Ala) rs794728525
NM_000218.3(KCNQ1):c.1111G>A (p.Ala371Thr) rs199473412
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.3(KCNQ1):c.1394-2A>G rs2133855926
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser) rs794728535
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1794+2T>C rs2494146135
NM_000218.3(KCNQ1):c.1795-2A>G rs867564993
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) rs199472679
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys) rs199473453
NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro) rs199472697
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys) rs199473398
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro) rs199473458
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) rs1589957756
NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.3(KCNQ1):c.773A>G (p.His258Arg) rs199472718
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys) rs199472722
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.921G>A (p.Val307=) rs397508131
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000222.3(KIT):c.1658A>C (p.Tyr553Ser)
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.3(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000223.4(KRT12):c.385A>G (p.Met129Val) rs267607387
NM_000226.4(KRT9):c.512T>G (p.Val171Gly) rs1597794572
NM_000237.3(LPL):c.1139+1G>A rs767260655
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.1322+1G>C rs2128839625
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000238.4(KCNH2):c.1128+1G>C rs1405113457
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile) rs199472906
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys) rs199472842
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln) rs199473515
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His) rs199472843
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu) rs199472844
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro) rs199473518
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg) rs121912507
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala) rs199473527
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile) rs199472964
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp) rs199472966
NM_000238.4(KCNH2):c.1945+1G>C rs794728487
NM_000238.4(KCNH2):c.2013_2145+77del rs2486029577
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2146-1G>C rs2116950992
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu) rs199473421
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg) rs1060500659
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp) rs121912515
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.76+1dup rs2117072537
NM_000238.4(KCNH2):c.832_916+11del rs2486087544
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu) rs199472830
NM_000238.4(KCNH2):c.917-1G>T rs2486083513
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.3749T>C (p.Met1250Thr) rs121913245
NM_000249.3(MLH1):c.1897-1delG rs63751643
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup
NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup
NM_000249.3:c.153_154insALU
NM_000249.3:c.2004_2005insALU
NM_000249.3:c.581_582insL1
NM_000249.3:c.723_724insL1
NM_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1038+2T>A rs2125855058
NM_000249.4(MLH1):c.1038+2T>C rs2125855058
NM_000249.4(MLH1):c.1039-2A>C rs267607815
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+1G>T rs267607709
NM_000249.4(MLH1):c.116+2T>A rs2125694907
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116_116+2del rs2470604622
NM_000249.4(MLH1):c.117-11T>A rs267607711
NM_000249.4(MLH1):c.117-1G>C rs587779950
NM_000249.4(MLH1):c.117-2A>C rs267607712
NM_000249.4(MLH1):c.117-3C>G rs770919400
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr) rs267607713
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1409+2T>C rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1558+1G>C rs267607832
NM_000249.4(MLH1):c.1558+1del rs1553653237
NM_000249.4(MLH1):c.1558+2T>A rs267607831
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558_1558+1delinsAA rs1575554246
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1615G>C (p.Ala539Pro) rs1559575256
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro) rs63750511
NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg) rs63750193
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.4(MLH1):c.1658_1667+3del rs2125945833
NM_000249.4(MLH1):c.1667+1del rs1553658246
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1668-2del rs2471344625
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg) rs2125957548
NM_000249.4(MLH1):c.170_181del (p.Lys57_Gln60del) rs1575395286
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.1731+1_1731+3delinsT rs2471349424
NM_000249.4(MLH1):c.1731+2T>C rs267607856
NM_000249.4(MLH1):c.1731+2dup rs2471349484
NM_000249.4(MLH1):c.1731+5G>C rs267607850
NM_000249.4(MLH1):c.1731G>C (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1731G>T (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-264A>T rs2085261656
NM_000249.4(MLH1):c.1732-9_1747delinsCC rs2471425024
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg) rs63751616
NM_000249.4(MLH1):c.1745_1746delinsGT (p.Leu582Arg)
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) rs267607865
NM_000249.4(MLH1):c.1754T>G (p.Leu585Arg) rs267607865
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1843_1845del (p.Leu615del) rs2471434953
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro) rs2081171469
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.4(MLH1):c.1865T>G (p.Leu622Arg) rs63750693
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp) rs63751632
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp) rs63751632
NM_000249.4(MLH1):c.1897-14_1897-1del rs2471455000
NM_000249.4(MLH1):c.1897-15_1901del rs2471454924
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu) rs587778955
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly) rs2471456258
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp) rs1553663884
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys) rs2081173076
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr) rs63750899
NM_000249.4(MLH1):c.1943C>A (p.Pro648His) rs63750610
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1958T>C (p.Leu653Pro) rs63751202
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+3dup rs2471462761
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.1989_1989+8del rs1575628928
NM_000249.4(MLH1):c.1990-11_1990-2delinsTT rs2471470978
NM_000249.4(MLH1):c.1990-2A>C rs267607883
NM_000249.4(MLH1):c.1990-2A>T rs267607883
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs) rs2471471840
NM_000249.4(MLH1):c.2019del (p.Phe673fs) rs2471473234
NM_000249.4(MLH1):c.2024del (p.Ser675fs) rs2471473667
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg) rs63750242
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs) rs2471474035
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del) rs2471474473
NM_000249.4(MLH1):c.2037del (p.Glu679fs) rs2471474687
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser) rs63750281
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.207+3A>C rs1184598875
NM_000249.4(MLH1):c.207+5G>A rs587781518
NM_000249.4(MLH1):c.207+5G>C rs587781518
NM_000249.4(MLH1):c.2072del (p.Ile691fs) rs2471477479
NM_000249.4(MLH1):c.208-12G>A
NM_000249.4(MLH1):c.208-1_208del rs587778973
NM_000249.4(MLH1):c.2096del (p.Gly699fs) rs2471479049
NM_000249.4(MLH1):c.2100_2103+13delinsCTG rs2471479367
NM_000249.4(MLH1):c.2103+2T>A rs2148512428
NM_000249.4(MLH1):c.2103+2T>C rs2148512428
NM_000249.4(MLH1):c.2103+2T>G rs2148512428
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C rs587778978
NM_000249.4(MLH1):c.2104-7_2147del rs2471500439
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs) rs2471502728
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs) rs2471503616
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs) rs2471503698
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.4(MLH1):c.2172del (p.Leu724fs) rs2471504437
NM_000249.4(MLH1):c.2178del (p.His727fs) rs2471504798
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro) rs397514684
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.2219del (p.Ile740fs) rs1575640960
NM_000249.4(MLH1):c.2221del (p.Leu741fs) rs2471506643
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs) rs2471507698
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs) rs2471507950
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs) rs786202326
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer) rs2471508293
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2255_2268delinsA (p.Val752fs) rs2471508751
NM_000249.4(MLH1):c.2258T>C (p.Phe753Ser) rs587778993
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs) rs1559597322
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln) rs587778995
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del) rs786202328
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.296T>C (p.Phe99Ser) rs2081475505
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg) rs267607726
NM_000249.4(MLH1):c.301G>T (p.Gly101Cys) rs267607726
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.302G>T (p.Gly101Val) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.305A>C (p.Glu102Ala) rs1553640334
NM_000249.4(MLH1):c.306+1222A>G rs2470778520
NM_000249.4(MLH1):c.306+2T>G rs1553640340
NM_000249.4(MLH1):c.307-1G>A rs267607736
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys) rs63750507
NM_000249.4(MLH1):c.332C>A (p.Ala111Asp) rs63750539
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys) rs63750781
NM_000249.4(MLH1):c.380+1del rs2470807543
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr) rs63751595
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.380_380+1insTAT rs2470807557
NM_000249.4(MLH1):c.389A>C (p.Tyr130Ser)
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg) rs267607747
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.453+1G>A rs267607750
NM_000249.4(MLH1):c.453+1G>C rs267607750
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.453+2T>A rs267607751
NM_000249.4(MLH1):c.453+2dup rs2470844128
NM_000249.4(MLH1):c.454-10_455delinsGAACA rs2470867588
NM_000249.4(MLH1):c.454-3_454delinsT rs2470867807
NM_000249.4(MLH1):c.454-7T>A rs2470867659
NM_000249.4(MLH1):c.455T>G (p.Val152Gly) rs1559523949
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del) rs2470869223
NM_000249.4(MLH1):c.514G>A (p.Glu172Lys) rs1559524405
NM_000249.4(MLH1):c.538_545+27delinsTG rs2470871442
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>C rs267607765
NM_000249.4(MLH1):c.545+1_545+6del rs2470871542
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys) rs587779021
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-1G>C rs587779022
NM_000249.4(MLH1):c.546-1G>T rs587779022
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1G>C rs267607772
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>C rs587779024
NM_000249.4(MLH1):c.588+3_588+6del rs267607769
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.588+5G>T rs267607768
NM_000249.4(MLH1):c.589-2A>T rs267607767
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.678-18_685del rs2470961086
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg) rs2082528605
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.4(MLH1):c.760A>T (p.Lys254Ter) rs1575481094
NM_000249.4(MLH1):c.770_790+82delinsA rs2470965363
NM_000249.4(MLH1):c.789_790+4del rs2470966392
NM_000249.4(MLH1):c.790+1_790+2delinsTA rs2470966628
NM_000249.4(MLH1):c.790+3A>C rs267607792
NM_000249.4(MLH1):c.790+3A>T rs267607792
NM_000249.4(MLH1):c.790+4A>C rs267607786
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.790+4del rs2470966746
NM_000249.4(MLH1):c.790+5G>A rs267607771
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.884+1G>T rs1553646764
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile) rs63750144
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.885-25_1014delinsCA rs2471047057
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.932A>G (p.Lys311Arg)
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del) rs2471052718
NM_000249.4(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000251.1(MSH2):c.-68-1376_95del1539
NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup
NM_000251.1:c.1442_1443insALU
NM_000251.1:c.212-15_212-14insALU
NM_000251.1:c.489_490insALU
NM_000251.3(MSH2):c.1003A>C (p.Thr335Pro) rs1573456437
NM_000251.3(MSH2):c.1013_1014delinsAT (p.Gly338Asp) rs2465817993
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) rs587782374
NM_000251.3(MSH2):c.1038_1049del (p.Lys347_Leu350del) rs1673079599
NM_000251.3(MSH2):c.1044_1045delinsCT (p.Gln348_Pro349delinsHisSer) rs2465819488
NM_000251.3(MSH2):c.1046C>A (p.Pro349His) rs587779067
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys) rs753075410
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly) rs587779070
NM_000251.3(MSH2):c.1076+1G>C rs267607940
NM_000251.3(MSH2):c.1076+2T>C rs2104254486
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.108_159del (p.Phe37fs) rs2465583767
NM_000251.3(MSH2):c.1103_1138del (p.Glu368_Leu380delinsVal) rs2465987043
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del) rs1573485191
NM_000251.3(MSH2):c.1241T>C (p.Leu414Pro) rs587779078
NM_000251.3(MSH2):c.1270_1276+7del rs2466000323
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg) rs587779084
NM_000251.3(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.3(MSH2):c.1361T>A (p.Ile454Lys) rs1060502025
NM_000251.3(MSH2):c.1380_1386+11del rs2528404439
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+2T>G rs1675076969
NM_000251.3(MSH2):c.1387-2012C>T rs2528640993
NM_000251.3(MSH2):c.1427_1510+38delinsATTTGATCCTAATC rs2528688225
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg) rs2104087118
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro) rs1666733944
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.1511-2A>C rs267607962
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser) rs587782587
NM_000251.3(MSH2):c.1659_1661+8del rs2528758264
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg) rs63751656
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly) rs63751656
NM_000251.3(MSH2):c.1660_1661+3del rs2528758651
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1661+2T>G rs1553366680
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1661G>T (p.Ser554Ile) rs63750597
NM_000251.3(MSH2):c.1662-1G>T rs267607970
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser) rs587779101
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro) rs1667078647
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1759+3A>G rs863224630
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.3(MSH2):c.1760-2A>G rs1573566175
NM_000251.3(MSH2):c.1799C>A (p.Ala600Asp) rs63751236
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val) rs63751236
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr) rs63750657
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala) rs267607985
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1812TGT[1] (p.Val606del) rs267607978
NM_000251.3(MSH2):c.1829A>C (p.His610Pro) rs1667236175
NM_000251.3(MSH2):c.182_211+1delinsC rs2465589106
NM_000251.3(MSH2):c.1862G>C (p.Arg621Pro) rs759263820
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln) rs28929483
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.3(MSH2):c.1890A>T (p.Gly630=) rs778523544
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.1998_2005+11del rs2528915290
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.2006-1_2012del rs2528938541
NM_000251.3(MSH2):c.2006-3T>G rs1553368975
NM_000251.3(MSH2):c.2006-7_2022del rs2104367794
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2006_2007delinsTT (p.Gly669Val) rs2528938694
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr) rs63751232
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile) rs1558519505
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.2019_2021del (p.Gly674del) rs2528939519
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2021G>T (p.Gly674Val) rs267607996
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu) rs1060501990
NM_000251.3(MSH2):c.2026T>C (p.Ser676Pro) rs63751089
NM_000251.3(MSH2):c.203_211+9delinsTGCCCGCG rs2465590916
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro) rs1667302018
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg) rs587779133
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) rs914610419
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr) rs1057524909
NM_000251.3(MSH2):c.2078_2080del (p.Cys693del) rs2528943887
NM_000251.3(MSH2):c.2079T>G (p.Cys693Trp) rs1553369089
NM_000251.3(MSH2):c.207_211+42del rs1553348901
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile) rs63751409
NM_000251.3(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.3(MSH2):c.2087C>A (p.Pro696Gln) rs267607994
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp) rs63750872
NM_000251.3(MSH2):c.211+1G>A rs1114167883
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn) rs63750108
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro) rs138465383
NM_000251.3(MSH2):c.2167_2169del (p.Ser723del) rs2528949304
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2210+1G>T rs267608002
NM_000251.3(MSH2):c.2210+2T>A rs2104379659
NM_000251.3(MSH2):c.2210_2210+1delinsTA rs1114167890
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2211-3_2211-2delinsG rs2528977079
NM_000251.3(MSH2):c.2232AAT[1] (p.Ile747del) rs267607690
NM_000251.3(MSH2):c.2242G>C (p.Asp748His) rs267608007
NM_000251.3(MSH2):c.2242G>T (p.Asp748Tyr) rs267608007
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2282G>A (p.Gly761Glu) rs876659937
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro) rs2104407685
NM_000251.3(MSH2):c.2402A>C (p.His801Pro) rs1114167875
NM_000251.3(MSH2):c.2458+1G>C rs267608010
NM_000251.3(MSH2):c.2458+976A>G rs2104420229
NM_000251.3(MSH2):c.2458+985A>G rs2529009203
NM_000251.3(MSH2):c.2459-11A>G rs1553370287
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2459-2A>T rs267608011
NM_000251.3(MSH2):c.2459-5_2460del rs2529029548
NM_000251.3(MSH2):c.2459-954A>G rs2104421991
NM_000251.3(MSH2):c.2520_2524delinsGCTAAAC (p.Ile841fs) rs2529034041
NM_000251.3(MSH2):c.2525_2526dup (p.Cys843fs) rs587779148
NM_000251.3(MSH2):c.2635-12C>G rs1436357692
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2635-2A>C rs1114167818
NM_000251.3(MSH2):c.2635-2A>T rs1114167818
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter) rs876660450
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.3(MSH2):c.2740del (p.Glu914fs) rs1573582750
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG rs2465669496
NM_000251.3(MSH2):c.366+1dup rs2465671168
NM_000251.3(MSH2):c.366+2T>C rs1558457533
NM_000251.3(MSH2):c.366+2T>G rs1558457533
NM_000251.3(MSH2):c.366+2_366+5delinsCA rs2465671277
NM_000251.3(MSH2):c.366G>C (p.Lys122Asn) rs2103985797
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.445G>C (p.Gly149Arg) rs929758799
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.560T>A (p.Leu187His) rs63751444
NM_000251.3(MSH2):c.569T>C (p.Leu190Pro) rs1114167878
NM_000251.3(MSH2):c.572T>G (p.Leu191Arg) rs2104034341
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.593A>C (p.Glu198Ala) rs63750327
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr) rs63751136
NM_000251.3(MSH2):c.597T>G (p.Cys199Trp) rs1573441776
NM_000251.3(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.645+2dup rs2465717090
NM_000251.3(MSH2):c.646-19_661del rs2465746449
NM_000251.3(MSH2):c.646-2A>C rs587779169
NM_000251.3(MSH2):c.646-2A>T rs587779169
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.646-6_727del rs2465746847
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000251.3(MSH2):c.792+2T>A rs587782408
NM_000251.3(MSH2):c.792+2T>C rs587782408
NM_000251.3(MSH2):c.793-1G>C rs863225397
NM_000251.3(MSH2):c.793-1G>T rs863225397
NM_000251.3(MSH2):c.793-2A>G rs267607933
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu) rs63750058
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.942+3_942+4delinsGT rs2465786910
NM_000251.3(MSH2):c.942_942+24del
NM_000251.3(MSH2):c.943-10_943-2del rs2465814223
NM_000251.3(MSH2):c.943-15T>G rs2104241530
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000256.3(MYBPC3):c.107del (p.Ala36fs) rs2495786486
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.111del (p.Gly37_Val38insTer)
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-39_1263del rs2495764295
NM_000256.3(MYBPC3):c.133G>T (p.Gly45Ter)
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1457+2T>G rs112999777
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly) rs375882485
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624+1G>T rs1252584025
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2291_2308+3del rs2095884867
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2413+2T>A rs2495750255
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.2738-2A>G rs1595842632
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
NM_000256.3(MYBPC3):c.3190+5G>C rs587782958
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3482_3490+3delinsTCATTCTT
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3593_3627+20del rs2495737667
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3787del (p.Arg1263fs) rs2495736043
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.710A>G (p.Tyr237Cys) rs397516070
NM_000256.3(MYBPC3):c.821+2dup rs2495775259
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1219G>T (p.Gly407Cys) rs1566535368
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu) rs397516101
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu) rs1060501443
NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp) rs1595085409
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val) rs863225101
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe) rs1222361739
NM_000257.4(MYH7):c.2459C>A (p.Ala820Asp) rs730880741
NM_000257.4(MYH7):c.2464A>G (p.Met822Val) rs730880742
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys) rs730880748
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro) rs1555337701
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) rs397516165
NM_000257.4(MYH7):c.2738T>C (p.Ile913Thr) rs1360649783
NM_000257.4(MYH7):c.2738T>G (p.Ile913Ser) rs1360649783
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs) rs886038901
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) rs1064792935
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.427C>G (p.Arg143Gly) rs727503278
NM_000257.4(MYH7):c.438G>C (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.596C>A (p.Ala199Glu)
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.652G>T (p.Asp218Tyr) rs1595089520
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu) rs727503276
NM_000257.4(MYH7):c.741C>A (p.Phe247Leu) rs1566537070
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu) rs3218713
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr) rs1555338578
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000258.3(MYL3):c.445A>G (p.Met149Val) rs104893748
NM_000264.3(PTCH1):c.586_591delCAGTGG rs2538247942
NM_000264.3:c.361_362insALU
NM_000264.5(PTCH1):c.1068-1G>T rs1085307752
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1347+1G>C rs1588602262
NM_000264.5(PTCH1):c.1348-1G>T rs1841170844
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.5(PTCH1):c.1503+2T>A rs2118302461
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu) rs1588598694
NM_000264.5(PTCH1):c.1847+3A>T
NM_000264.5(PTCH1):c.201+1G>A rs1131690967
NM_000264.5(PTCH1):c.2251-1G>C rs2538134281
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro) rs2117955781
NM_000264.5(PTCH1):c.2561-2057A>G
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg) rs2118879154
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs) rs2538079565
NM_000264.5(PTCH1):c.2887+2T>C rs1839273008
NM_000264.5(PTCH1):c.3168+3G>C rs2538066579
NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro) rs1588535542
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet) rs2538040664
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser) rs1131690990
NM_000264.5(PTCH1):c.3450-11T>A rs2538021784
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.3549+1G>A rs1838303542
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.394+4del rs2538381518
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000264.5(PTCH1):c.945+5G>A rs1588609575
NM_000267.3(NF1):c.2252delG rs1597713259
NM_000267.3:c.2964_2965insALU
NM_000267.3:c.7000-21_7000-20insALU
NM_000268.4(NF2):c.113A>C (p.Glu38Ala)
NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs) rs2518225830
NM_000268.4(NF2):c.1447-147_1447-8del rs2518709539
NM_000268.4(NF2):c.1447-1G>T rs2147107697
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1737+2T>C rs1556003801
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.363+2T>C rs2146873271
NM_000268.4(NF2):c.363+3A>T rs1060503669
NM_000268.4(NF2):c.448-1G>T rs2146966216
NM_000268.4(NF2):c.516+1G>T rs1601612044
NM_000268.4(NF2):c.599+1G>T rs1555993352
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.810+419G>A
NM_000268.4(NF2):c.94G>T (p.Glu32Ter)
NM_000271.5(NPC1):c.3754+1del rs1835896772
NM_000276.4(OCRL):c.1713+2T>G rs2124417909
NM_000278.5(PAX2):c.148C>G (p.Arg50Gly)
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.499G>A (p.Val167Met) rs2063174067
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln) rs1555934336
NM_000297.4(PKD2):c.427_595+78del rs2476358273
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000302.4(PLOD1):c.467-2A>G rs571824470
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
NM_000314.4:c.423_424insSVA rs2493718324
NM_000314.4:c.545_546insALU
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs) rs2493776990
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs) rs2493777058
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro) rs1589617199
NM_000314.8(PTEN):c.1026+1del rs398123313
NM_000314.8(PTEN):c.1027-1852A>G rs1194768011
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.1103del (p.Asp368fs) rs2493786247
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.8(PTEN):c.112C>A (p.Pro38Thr) rs587780004
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.113C>T (p.Pro38Leu) rs1064796886
NM_000314.8(PTEN):c.115G>A (p.Ala39Thr) rs2132187379
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser) rs2493787175
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del) rs1554893831
NM_000314.8(PTEN):c.165-17_165del rs1554897240
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-34A>G
NM_000314.8(PTEN):c.167T>C (p.Phe56Ser) rs748031178
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser) rs786202398
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.8(PTEN):c.182A>C (p.His61Pro) rs398123316
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.191A>C (p.His64Pro) rs1589640471
NM_000314.8(PTEN):c.193T>G (p.Tyr65Asp) rs587780005
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.209+1_209+2del rs1564826836
NM_000314.8(PTEN):c.209+2047A>G rs2493706806
NM_000314.8(PTEN):c.209+2T>G rs878853937
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.209T>G (p.Leu70Arg) rs121909226
NM_000314.8(PTEN):c.210-12C>G rs766570103
NM_000314.8(PTEN):c.210-1G>C rs1114167621
NM_000314.8(PTEN):c.210-1G>T rs1114167621
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.210-2_210-1delinsT rs2493711728
NM_000314.8(PTEN):c.213T>G (p.Cys71Trp) rs1554897858
NM_000314.8(PTEN):c.226_228del (p.Tyr76del) rs1554897864
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5_253+13del rs2493712327
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>C (p.His93Pro) rs121909238
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala) rs1114167630
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn) rs1339631701
NM_000314.8(PTEN):c.30_32del (p.Ser10del) rs1114167649
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) rs786204858
NM_000314.8(PTEN):c.322C>T (p.Leu108Phe) rs2132242585
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln) rs121909230
NM_000314.8(PTEN):c.353A>C (p.His118Pro) rs1554898107
NM_000314.8(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.8(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.8(PTEN):c.356T>G (p.Val119Gly) rs1554898113
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser) rs876660535
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu) rs1554898138
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.405A>G (p.Ile135Met) rs2132243411
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.425G>C (p.Arg142Pro) rs753630034
NM_000314.8(PTEN):c.455T>C (p.Leu152Pro) rs1554898197
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn) rs398123325
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>T rs587781784
NM_000314.8(PTEN):c.493-2_503del
NM_000314.8(PTEN):c.493-9349A>G rs1589652681
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu) rs786204864
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.513G>T (p.Gln171His)
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del) rs587780711
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.8(PTEN):c.584T>C (p.Phe195Ser) rs2132269646
NM_000314.8(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.8(PTEN):c.634+2_634+3insC rs1554900673
NM_000314.8(PTEN):c.634+3A>C rs2132270104
NM_000314.8(PTEN):c.634+3_634+6del rs1589659775
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.65A>G (p.Asp22Gly) rs1554890398
NM_000314.8(PTEN):c.65A>T (p.Asp22Val) rs1554890398
NM_000314.8(PTEN):c.69_74del (p.22DL[1]) rs2493592471
NM_000314.8(PTEN):c.709_726del (p.Lys237_Glu242del)
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn) rs2493766755
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del) rs1114167666
NM_000314.8(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val) rs1114167664
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.758T>A (p.Ile253Asn) rs1554825235
NM_000314.8(PTEN):c.758T>G (p.Ile253Ser) rs1554825235
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000314.8(PTEN):c.77C>A (p.Thr26Asn) rs786204853
NM_000314.8(PTEN):c.79T>A (p.Tyr27Asn) rs746128825
NM_000314.8(PTEN):c.80-12_88dup rs2493648077
NM_000314.8(PTEN):c.80-2A>C rs2132187034
NM_000314.8(PTEN):c.80-5_82del rs1589617114
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr) rs1355570425
NM_000314.8(PTEN):c.85_99del (p.Tyr29_Ile33del)
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667
NM_000314.8(PTEN):c.974T>C (p.Leu325Pro) rs1114167654
NM_000314.8(PTEN):c.991del (p.Asp331fs) rs2493776899
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1128-106_1128del rs2542194514
NM_000321.3(RB1):c.1215+1G>T rs587776783
NM_000321.3(RB1):c.1332+3A>T rs1952832685
NM_000321.3(RB1):c.1389+4A>C rs1131690879
NM_000321.3(RB1):c.1421+18_1421+38del
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.3(RB1):c.1498+1G>A rs1131690909
NM_000321.3(RB1):c.1498+2T>G rs1948523741
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.1A>G (p.Met1Val)
NM_000321.3(RB1):c.2107-1G>A rs587778860
NM_000321.3(RB1):c.2107-2A>G rs1593538130
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter) rs2542373622
NM_000321.3(RB1):c.2211+2T>C rs2138342748
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2326-2A>G rs1949432057
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys) rs2138346300
NM_000321.3(RB1):c.2490-28T>G rs2138354487
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000321.3(RB1):c.719-3C>G rs2138112047
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.861+2T>C rs2542182475
NM_000325.6(PITX2):c.344G>A (p.Arg115His) rs104893862
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000335.5(SCN5A):c.2023+1G>A rs1553703211
NM_000335.5(SCN5A):c.2437-1G>C rs2471678625
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.2788-2del rs2471660795
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys) rs199473204
NM_000335.5(SCN5A):c.3822C>A (p.Asp1274Glu)
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4242+1G>T rs794728879
NM_000335.5(SCN5A):c.4243-2del rs794728943
NM_000335.5(SCN5A):c.4296+1G>T rs2061175467
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro) rs199473342
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.482+1G>C rs2471848000
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu) rs199473286
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) rs1559720870
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter) rs2062567690
NM_000335.5(SCN5A):c.998+1G>T rs1167495153
NM_000335.5(SCN5A):c.999-1G>A rs2125906068
NM_000346.4(SOX9):c.247G>C (p.Gly83Arg) rs1908097162
NM_000346.4(SOX9):c.494A>G (p.His165Arg) rs1908142392
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.595A>T (p.Ser199Cys) rs2085696801
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1263+37C>T rs2538827659
NM_000368.5(TSC1):c.1997+2T>G rs2131806725
NM_000368.5(TSC1):c.210+1G>C rs118203348
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2810C>T (p.Ala937Val) rs2131630360
NM_000368.5(TSC1):c.2813+1G>C rs1845135625
NM_000368.5(TSC1):c.35_69del (p.Ala12fs) rs2539143887
NM_000368.5(TSC1):c.363+668G>T rs2132219029
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser) rs2132185994
NM_000368.5(TSC1):c.659T>A (p.Val220Asp) rs2132149285
NM_000368.5(TSC1):c.737+1G>T rs118203438
NM_000368.5(TSC1):c.737+2T>C rs1564497308
NM_000368.5(TSC1):c.913+2T>C rs2538885807
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000371.4(TTR):c.116C>A (p.Ala39Asp) rs11541795
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.4(TTR):c.133G>T (p.Ala45Ser) rs104894664
NM_000371.4(TTR):c.155T>C (p.Val52Ala) rs2073493951
NM_000371.4(TTR):c.172G>C (p.Asp58His) rs2073494217
NM_000371.4(TTR):c.179C>A (p.Thr60Asn) rs113625622
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu) rs730881168
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
NM_000371.4(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.4(TTR):c.242A>C (p.Glu81Ala) rs1567946170
NM_000371.4(TTR):c.242A>G (p.Glu81Gly) rs1567946170
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.311T>C (p.Ile104Thr) rs121918072
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.381T>G (p.Ile127Met) rs751430411
NM_000371.4(TTR):c.391C>A (p.Leu131Met) rs121918073
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000381.4(MID1):c.1342T>C (p.Tyr448His) rs1569270016
NM_000384.3(APOB):c.237+1G>A
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1608+1G>A rs2473258614
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) rs104893698
NM_000388.4(CASR):c.197G>A (p.Arg66His) rs1276839362
NM_000388.4(CASR):c.1A>C (p.Met1Leu) rs2107624704
NM_000388.4(CASR):c.2011G>T (p.Glu671Ter)
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys) rs2074935748
NM_000388.4(CASR):c.2504C>A (p.Ala835Asp)
NM_000388.4(CASR):c.2531C>T (p.Ala844Val) rs2074940195
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000391.4(TPP1):c.17+2T>A rs2493803105
NM_000396.4(CTSK):c.931G>C (p.Ala311Pro) rs1245231987
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000426.4(LAMA2):c.6268+2T>C rs1554297727
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000435.3(NOTCH3):c.3009G>T (p.Trp1003Cys) rs1241704923
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del) rs1131690916
NM_000455.5(STK11):c.155_157del (p.Gly52del) rs1131690917
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del) rs1131690953
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.290+2T>A rs112235354
NM_000455.5(STK11):c.290+2_290+4del rs1568690546
NM_000455.5(STK11):c.375-7_375-6del rs2080765043
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.5(STK11):c.407T>G (p.Met136Arg)
NM_000455.5(STK11):c.460C>G (p.His154Asp) rs878853988
NM_000455.5(STK11):c.464+1G>C rs730881971
NM_000455.5(STK11):c.465-1G>A rs587776658
NM_000455.5(STK11):c.465-21_465del rs2512942351
NM_000455.5(STK11):c.465-2A>C rs1131690931
NM_000455.5(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.5(STK11):c.536C>A (p.Pro179Gln) rs786202466
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu) rs1568707668
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.5(STK11):c.586G>C (p.Gly196Arg) rs2145424658
NM_000455.5(STK11):c.597+1G>T rs886039554
NM_000455.5(STK11):c.597+2T>C
NM_000455.5(STK11):c.598-1G>T
NM_000455.5(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.5(STK11):c.711C>A (p.Asp237Glu) rs1057520379
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.5(STK11):c.734+2T>C rs1131690941
NM_000455.5(STK11):c.734_734+2dup rs2512943858
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del) rs2145426726
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000455.5(STK11):c.862+2T>C
NM_000455.5(STK11):c.863-2A>G rs1131690944
NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del) rs1131690935
NM_000455.5(STK11):c.914A>C (p.Gln305Pro) rs2080788003
NM_000455.5(STK11):c.920+2_920+31del rs2512946804
NM_000458.4(HNF1B):c.544+3_544+6del rs2033925649
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys) rs2511801729
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu) rs750453538
NM_000465.2:c.1764_1765insALU
NM_000465.2:c.1776_1777insL1
NM_000465.2:c.924_925insALU
NM_000465.4(BARD1):c.1306_1314+7del rs1694934695
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1314+1G>T rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter) rs1553628365
NM_000465.4(BARD1):c.1395+1dup rs1553619688
NM_000465.4(BARD1):c.1396-14A>G rs2469445078
NM_000465.4(BARD1):c.1396-1G>A rs2106077292
NM_000465.4(BARD1):c.1396-5A>G rs1559410251
NM_000465.4(BARD1):c.1568+1G>T rs2106076135
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.1568+2del
NM_000465.4(BARD1):c.1568+2dup rs761579543
NM_000465.4(BARD1):c.1569-1G>A rs1574756672
NM_000465.4(BARD1):c.1569-2A>G rs1693509336
NM_000465.4(BARD1):c.158+1G>C rs1553628351
NM_000465.4(BARD1):c.158+2_158+10del rs2469637148
NM_000465.4(BARD1):c.159-1G>A rs879254139
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1676_1677+2del rs2469377349
NM_000465.4(BARD1):c.1677+1G>A rs1060501310
NM_000465.4(BARD1):c.1677+2T>A rs2469377325
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
NM_000465.4(BARD1):c.1678-2A>C
NM_000465.4(BARD1):c.1678-2A>G rs1693089850
NM_000465.4(BARD1):c.1678-3C>G rs1693089932
NM_000465.4(BARD1):c.1810+1G>A rs876659894
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1903+2T>A rs1574737047
NM_000465.4(BARD1):c.1904-1G>A rs2469277929
NM_000465.4(BARD1):c.1934_2001+52del rs1574706516
NM_000465.4(BARD1):c.1961del (p.Pro654fs) rs2469277145
NM_000465.4(BARD1):c.1978del (p.Ser660fs)
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2002-15_2003del rs2469271486
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2065dup (p.Asp689fs) rs2469270823
NM_000465.4(BARD1):c.2074_2084del (p.Ile692fs) rs2469270655
NM_000465.4(BARD1):c.2099dup (p.Gln701fs) rs1553612184
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) rs587782348
NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter) rs149262370
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.215+1G>A rs2106145519
NM_000465.4(BARD1):c.215+2T>C rs1559441760
NM_000465.4(BARD1):c.215+5_215+8del rs876658777
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter) rs2105987094
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter) rs1559372004
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs) rs2469268815
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs) rs1574702099
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) rs1358155595
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) rs786202118
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs) rs2469267341
NM_000465.4(BARD1):c.2295_2296del (p.Asp765fs) rs2469267297
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs) rs2469267150
NM_000465.4(BARD1):c.364+1G>A rs2106134408
NM_000465.4(BARD1):c.365-1G>T rs1559426428
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000489.6(ATRX):c.4957-3A>G rs2148338719
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn) rs2064896365
NM_000489.6(ATRX):c.736C>G (p.Arg246Gly)
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000492.3(CFTR):c.2909_2924dupGTGGGATTCTTAATAG
NM_000492.3:c.2440_2441insALU
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) rs75053309
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1210-3C>G rs1324592887
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>A rs121908800
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del) rs2485128924
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3140-1G>A rs397508506
NM_000492.4(CFTR):c.329A>T (p.Asp110Val) rs2485009084
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.3963+1G>C rs672601314
NM_000492.4(CFTR):c.3963+1G>T rs672601314
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer) rs1554397772
NM_000492.4(CFTR):c.4345_*486delinsTTG (p.Phe1450_Ter1481del) rs2485185751
NM_000492.4(CFTR):c.434T>A (p.Leu145His) rs397508712
NM_000492.4(CFTR):c.490-1G>C rs397508734
NM_000492.4(CFTR):c.53+2T>C rs2484929014
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.869+1G>C rs1330431481
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000496.3(CRYBB2):c.229G>A (p.Gly77Ser) rs1935449238
NM_000501.4(ELN):c.1357+1G>T rs1554680190
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000516.7(GNAS):c.163A>G (p.Thr55Ala) rs797044895
NM_000516.7(GNAS):c.742G>A (p.Val248Met) rs1555891562
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) rs1555891595
NM_000520.6(HEXA):c.1559G>A (p.Gly520Asp) rs2542505621
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) rs28928892
NM_000527.4:c.2462_2463insALU
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro) rs879254756
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala) rs755449669
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly) rs879254783
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly) rs879254787
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1108A>T (p.Asn370Tyr)
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser) rs879254814
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu) rs1060499921
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser) rs2516003230
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1299_1304del (p.Asp433_Thr434del) rs2516004003
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla) rs2516004084
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
NM_000527.5(LDLR):c.1322T>G (p.Ile441Ser) rs879254862
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp) rs144614838
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) rs879254915
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-3C>G rs2512412601
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg) rs1344561983
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val) rs137929307
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) rs875989934
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1988-2A>G rs879255101
NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe) rs28942083
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg) rs28942084
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser) rs1555807435
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly) rs1555807435
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe) rs879255134
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2312-2A>C rs2077660035
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2412G>A (p.Leu804=) rs2077686564
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp) rs875989891
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del) rs2512461322
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala) rs2077233012
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly) rs2077233012
NM_000527.5(LDLR):c.313+4_313+16del rs1555802822
NM_000527.5(LDLR):c.313+5G>A rs879254467
NM_000527.5(LDLR):c.313+6T>G rs879254468
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.5(LDLR):c.479G>C (p.Cys160Ser) rs879254541
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe) rs879254541
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala) rs879254555
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) rs879254555
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) rs879254557
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp) rs121908026
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer) rs2515968704
NM_000527.5(LDLR):c.670G>C (p.Asp224His) rs387906303
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe) rs879254636
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) rs1372739823
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr) rs879254694
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) rs879254694
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp) rs879254708
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-2A>C rs112366278
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser) rs879254746
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) rs879254746
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.448+1G>A rs1407955132
NM_000530.8(MPZ):c.600dup (p.Lys201fs) rs1553259529
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.699_702del (p.Ser233fs) rs1571817103
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000532.5(PCCB):c.1499-1G>C rs1935478339
NM_000533.5(PLP1):c.696+1G>A rs113897548
NM_000535.5:c.1274_1275insALU
NM_000535.5:c.804-64_804-63insSVA
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1144+1G>T rs373885654
NM_000535.7(PMS2):c.1144+1del rs2128746842
NM_000535.7(PMS2):c.1144+2T>G rs267608158
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del) rs1064794820
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.163+2T>A rs587779329
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+2dup rs2536579397
NM_000535.7(PMS2):c.164-10A>G rs2128830974
NM_000535.7(PMS2):c.164-2A>C rs587779324
NM_000535.7(PMS2):c.164-9_178delinsGATCC rs1583410952
NM_000535.7(PMS2):c.19_23+26delinsCC rs2536703309
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-1G>C rs267608170
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG rs2535556776
NM_000535.7(PMS2):c.209A>T (p.Asp70Val) rs1554305000
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2102A>C (p.His701Pro) rs1583298873
NM_000535.7(PMS2):c.2102A>G (p.His701Arg) rs1583298873
NM_000535.7(PMS2):c.2114A>G (p.Glu705Gly)
NM_000535.7(PMS2):c.2174+1G>T rs267608172
NM_000535.7(PMS2):c.2174+2del rs2535526578
NM_000535.7(PMS2):c.2175-1G>A rs1562605623
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2175-2A>G rs2128684295
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.23+1G>C rs587782074
NM_000535.7(PMS2):c.23+2T>A rs2128865814
NM_000535.7(PMS2):c.23+2_23+10del
NM_000535.7(PMS2):c.24-2A>G rs1583419860
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs) rs2535307156
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2446-1G>T rs774583397
NM_000535.7(PMS2):c.2446-2A>G rs886039709
NM_000535.7(PMS2):c.2446-2del
NM_000535.7(PMS2):c.250+1G>C rs1785410333
NM_000535.7(PMS2):c.250+2T>G rs766865355
NM_000535.7(PMS2):c.251-11CT[2] rs1453148905
NM_000535.7(PMS2):c.251-1G>C rs764171734
NM_000535.7(PMS2):c.251-3C>G rs1785386998
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr) rs267608174
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2555del (p.His852fs) rs2535179997
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs) rs2535179412
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter) rs63749862
NM_000535.7(PMS2):c.505C>G (p.Arg169Gly) rs730881916
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1G>C rs863224450
NM_000535.7(PMS2):c.538-1G>A rs988423880
NM_000535.7(PMS2):c.705+1G>C rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+1del rs2536301962
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.706-1G>A rs1202370194
NM_000535.7(PMS2):c.706-1G>C rs1202370194
NM_000535.7(PMS2):c.706-1G>T rs1202370194
NM_000535.7(PMS2):c.706-2A>C rs745487791
NM_000535.7(PMS2):c.790_803+5del rs2536215101
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT rs2536214222
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-1G>C rs1562664845
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg) rs1583364895
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp) rs1583364867
NM_000535.7(PMS2):c.812G>T (p.Gly271Val) rs1583364867
NM_000535.7(PMS2):c.815del (p.Phe272fs) rs2536155997
NM_000535.7(PMS2):c.899_903+5delinsTAACAC rs2536138966
NM_000535.7(PMS2):c.902dup (p.Val302fs) rs1784291698
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+2T>A rs878854059
NM_000535.7(PMS2):c.904-1G>T rs779064342
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.988+1del rs876660075
NM_000535.7(PMS2):c.988+2T>C rs2128754913
NM_000540.3(RYR1):c.12536G>A (p.Arg4179His)
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup) rs1555801872
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly) rs2104400347
NM_000545.8(HNF1A):c.108C>A (p.Tyr36Ter)
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.527-1G>C rs1555211904
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro) rs2135839880
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183
NM_000545.8(HNF1A):c.955+2T>C rs2135842812
NM_000546.6(TP53):c.-29+1G>C rs2151082372
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.6(TP53):c.1021_1022delinsAG (p.Phe341Ser) rs2543473385
NM_000546.6(TP53):c.1031T>G (p.Leu344Arg) rs121912662
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_000546.6(TP53):c.1045G>T (p.Glu349Ter) rs1567541975
NM_000546.6(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.283_375+21del rs1555526462
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del) rs587782490
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del) rs764486868
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.375+1G>A rs1567555445
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.375+2T>A rs1555526469
NM_000546.6(TP53):c.375+2T>G rs1555526469
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.376-2A>T rs786202799
NM_000546.6(TP53):c.376-2_377dup rs1222592143
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.6(TP53):c.436_456del (p.Trp146_Pro152del)
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe) rs1597370899
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.463A>C (p.Thr155Pro) rs772683278
NM_000546.6(TP53):c.464C>T (p.Thr155Ile) rs786202752
NM_000546.6(TP53):c.466C>G (p.Arg156Gly) rs563378859
NM_000546.6(TP53):c.467G>C (p.Arg156Pro) rs371524413
NM_000546.6(TP53):c.472_489del (p.Arg158_Tyr163del)
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.6(TP53):c.484A>T (p.Ile162Phe) rs2073377305
NM_000546.6(TP53):c.485T>A (p.Ile162Asn) rs587780069
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.503A>C (p.His168Pro)
NM_000546.6(TP53):c.509_520del (p.Thr170_Val173del) rs2151030744
NM_000546.6(TP53):c.515T>A (p.Val172Asp) rs1131691021
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del) rs2073361326
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.6(TP53):c.534C>A (p.His178Gln) rs1555526001
NM_000546.6(TP53):c.534C>G (p.His178Gln) rs1555526001
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.541_559+1del rs2543592586
NM_000546.6(TP53):c.559+2_559+3delinsGT rs1597369390
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) rs776167460
NM_000546.6(TP53):c.559_559+6del
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) rs876660825
NM_000546.6(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del) rs1555525902
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.579T>A (p.His193Gln) rs1597368777
NM_000546.6(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.632C>T (p.Thr211Ile) rs2073331490
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.637_639delinsTGG (p.Arg213Trp)
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646GTG[2] (p.Val218del) rs1597367938
NM_000546.6(TP53):c.653T>A (p.Val218Glu) rs1555525743
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del) rs876658144
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.673-1G>C rs878854073
NM_000546.6(TP53):c.673-2A>T rs1555525585
NM_000546.6(TP53):c.694A>T (p.Ile232Phe) rs1555525562
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.700_702del (p.Tyr234del) rs2543564954
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.703A>G (p.Asn235Asp) rs786204145
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del) rs876659260
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.736A>C (p.Met246Leu) rs483352695
NM_000546.6(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.6(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.6(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.738G>C (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.738G>T (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del) rs2073243450
NM_000546.6(TP53):c.757A>C (p.Thr253Pro) rs1597364185
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.6(TP53):c.781_782+8del rs2543556588
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.782+2T>A rs876659076
NM_000546.6(TP53):c.782+2T>G rs876659076
NM_000546.6(TP53):c.782+2_782+8del rs2543556575
NM_000546.6(TP53):c.783-1G>T rs1555525367
NM_000546.6(TP53):c.783-2A>T rs1060501207
NM_000546.6(TP53):c.783-4_792del rs2543547129
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) rs879253942
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.801_818del (p.Asn268_Arg273del) rs2543544577
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_000546.6(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del) rs1555525215
NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis) rs587781564
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.848G>C (p.Arg283Pro) rs371409680
NM_000546.6(TP53):c.850A>C (p.Thr284Pro) rs1204379654
NM_000546.6(TP53):c.917_919+10del rs1555525040
NM_000546.6(TP53):c.919+1G>C rs1131691039
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.920-2A>T rs397516439
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.96+2T>G rs2073505429
NM_000546.6(TP53):c.96+2dup rs1131691015
NM_000546.6(TP53):c.97-1_102dup
NM_000546.6(TP53):c.987_993+2delinsTA rs2543524584
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993+1G>C rs11575997
NM_000546.6(TP53):c.993+2T>G rs1597359053
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.995T>A (p.Ile332Asn) rs2150995433
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu) rs1414372155
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1717-1G>C rs45517192
NM_000548.5(TSC2):c.1717-3C>A rs2151277529
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg) rs1567456901
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala) rs2151296839
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1945_1946+4del rs2151299256
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2097+1G>T rs2543709038
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.3096A>G (p.Arg1032=) rs2089803859
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3814+2T>G rs2544164322
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del) rs2544401818
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro) rs2091055727
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5069-3_5069-2del rs1114167460
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5420_5423dup (p.Ter1808CysextTer?)
NM_000548.5(TSC2):c.599+2T>C rs45484992
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro) rs1596278377
NM_000548.5(TSC2):c.775-2A>G rs2548472327
NM_000548.5(TSC2):c.839T>C (p.Met280Thr) rs2548474408
NM_000548.5(TSC2):c.848+2T>A rs1555499119
NM_000551.4(VHL):c.188T>G (p.Leu63Arg) rs104893827
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.4(VHL):c.226T>A (p.Phe76Ile) rs1559425911
NM_000551.4(VHL):c.226T>C (p.Phe76Leu) rs1559425911
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.4(VHL):c.236G>C (p.Arg79Pro) rs2125125087
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.240T>A (p.Ser80Arg) rs1553619424
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.251T>A (p.Val84Glu) rs1264207864
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg) rs1131690960
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.4(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del) rs1575922271
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.302T>A (p.Leu101Gln) rs1553619456
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.302T>G (p.Leu101Arg) rs1553619456
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.335_340+5del rs869025632
NM_000551.4(VHL):c.340+1del rs2470158799
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.357C>A (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.4(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.4(VHL):c.379_380insCAG (p.Asp126_Gly127insAla) rs1559428103
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del) rs2470165274
NM_000551.4(VHL):c.406T>G (p.Phe136Val) rs1696264108
NM_000551.4(VHL):c.429C>G (p.Asp143Glu) rs773556807
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.462A>T (p.Pro154=)
NM_000551.4(VHL):c.463+1G>C rs869025657
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.506del (p.Leu169fs) rs1205346910
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.588del (p.Asp197fs) rs864321640
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.607_608del (p.Gln203fs) rs2470171381
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000701.8(ATP1A1):c.2797G>A (p.Asp933Asn) rs2101066493
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser) rs1553245780
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del) rs2524865483
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met) rs1236883845
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) rs758786846
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln) rs2099740070
NM_000814.6(GABRB3):c.328A>G (p.Asn110Asp) rs767830097
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) rs1890229008
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000834.5(GRIN2B):c.1376G>A (p.Gly459Glu) rs2497599845
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.5(GRIN2B):c.1649T>C (p.Phe550Ser) rs1555112021
NM_000834.5(GRIN2B):c.2056G>A (p.Val686Met) rs2136415913
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter) rs1555102536
NM_000834.5(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs) rs2071382702
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile) rs2509921093
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000901.5(NR3C2):c.2799+1G>A rs2530538343
NM_000937.5(POLR2A):c.3367C>G (p.Arg1123Gly) rs779584016
NM_000937.5(POLR2A):c.3368G>A (p.Arg1123Gln) rs1597803120
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser) rs2070680579
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_000964.4(RARA):c.827G>A (p.Arg276Gln) rs2034543510
NM_000965.5(RARB):c.1220T>C (p.Leu407Pro) rs2529826385
NM_000969.5(RPL5):c.3+5G>C rs2524440290
NM_000969.5(RPL5):c.73+1G>A rs1553284965
NM_000975.5(RPL11):c.397-2A>G rs2124432051
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs) rs2523403053
NM_000975.5(RPL11):c.508-1G>A rs2523404237
NM_000975.5(RPL11):c.508-9_508-5del rs2523404169
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys) rs2530415049
NM_000996.4(RPL35A):c.165-16_166del rs2530430943
NM_001001331.4(ATP2B2):c.2121C>A (p.Asp707Glu)
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001002295.2(GATA3):c.895C>T (p.Arg299Trp) rs2131501111
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003800.2(BICD2):c.1589T>C (p.Phe530Ser) rs797044920
NM_001003800.2(BICD2):c.2080C>G (p.Arg694Gly) rs797045412
NM_001005242.3(PKP2):c.1034+1G>C rs869025496
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2167+1G>T rs794729116
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.2385del (p.Ala796fs) rs2541184876
NM_001005273.3(CHD3):c.2660G>C (p.Arg887Pro)
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.3032G>A (p.Gly1011Asp) rs2544958440
NM_001005273.3(CHD3):c.4073-1G>A rs1970772602
NM_001005273.3(CHD3):c.4073-1G>T rs1970772602
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln) rs2072157379
NM_001007553.3(CSDE1):c.598A>T (p.Ile200Phe)
NM_001009944.3(PKD1):c.2854-1G>T rs2544845417
NM_001009944.3(PKD1):c.3295+1G>C rs2092536130
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.7210-2A>C
NM_001009944.3(PKD1):c.7489+2T>C
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7703+1G>T
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001010874.5(TECRL):c.435+1_435+97del
NM_001010874.5(TECRL):c.436-2A>G rs2476098889
NM_001010874.5(TECRL):c.658-2A>G
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del) rs764174354
NM_001010874.5(TECRL):c.833-1G>C rs763631876
NM_001015877.2(PHF6):c.904C>T (p.His302Tyr) rs2520644535
NM_001015877.2(PHF6):c.965A>C (p.Tyr322Ser) rs2520644840
NM_001017420.3(ESCO2):c.861+1_861+6del rs2486629474
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.461T>C (p.Ile154Thr)
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu) rs2513667328
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln) rs2513667441
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu) rs2513667441
NM_001022.4(RPS19):c.169G>C (p.Ala57Pro) rs1555839190
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe) rs2513682836
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys) rs782627671
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.411+2_411+6del rs2513685131
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr) rs2540723571
NM_001029.5(RPS26):c.3+1G>T rs148622862
NM_001029.5(RPS26):c.312+1G>C rs2540723664
NM_001029.5(RPS26):c.313-2A>G rs2540724145
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys) rs2065045729
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.973+5_973+10del rs1569523436
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu) rs1840656743
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His) rs796053374
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.88-16_88-5del rs1840652151
NM_001032382.2(PQBP1):c.232C>T (p.Pro78Ser) rs1557041239
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001034850.3(RETREG1):c.321-2_321delinsTGT rs2477712772
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp) rs374306538
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) rs794728785
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg) rs2527781764
NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala) rs2527783445
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe) rs794728804
NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly) rs1663930286
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) rs794728722
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly) rs749930577
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu) rs397516539
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr) rs1372052481
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.2816T>C (p.Leu939Pro) rs2468008256
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp) rs1553583544
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile) rs1697221269
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) rs1060503102
NM_001040142.2(SCN2A):c.5265_5268del (p.Phe1755fs) rs1466129143
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg) rs1553463586
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter) rs1553463850
NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly) rs1697272149
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln) rs1559352517
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg) rs2467890178
NM_001040616.3(LINS1):c.1394+1G>T rs869312932
NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs) rs1834650809
NM_001042424.3(NSD2):c.2291G>T (p.Cys764Phe) rs2474622067
NM_001042432.2(CLN3):c.1056+1G>T rs1217725909
NM_001042492.3(NF1):c.1048_1062+8del
NM_001042492.3(NF1):c.1062+2T>C rs2066510391
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1063-13G>A rs1131691066
NM_001042492.3(NF1):c.1063-1G>A rs1555610955
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1186-1G>T rs876660782
NM_001042492.3(NF1):c.1186-2A>C rs1373365576
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261-1G>C rs2066618707
NM_001042492.3(NF1):c.1261-3_1261-2delinsAGC
NM_001042492.3(NF1):c.1261-5_1262del rs2544810711
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1393-1555C>G rs2544825667
NM_001042492.3(NF1):c.1393-1G>T rs1131691131
NM_001042492.3(NF1):c.139T>C (p.Ser47Pro) rs2143626487
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+4del
NM_001042492.3(NF1):c.1527+4dup rs2544830011
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.1527+675C>T rs2544831653
NM_001042492.3(NF1):c.1528-1G>A rs876660595
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1528-2A>G rs1368005133
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro) rs2143986529
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1657C>G (p.His553Asp) rs2144003901
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1721+542A>G rs2066942173
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1722-11T>A rs2066961306
NM_001042492.3(NF1):c.1722-14_1722-5del rs2144015153
NM_001042492.3(NF1):c.1722-1G>A rs1567845818
NM_001042492.3(NF1):c.1722-2A>G rs763983337
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg) rs1597626094
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del) rs2143627187
NM_001042492.3(NF1):c.1818C>T (p.Cys606=) rs1567845937
NM_001042492.3(NF1):c.1845+2T>G rs1555613430
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.205-1G>A rs1555605362
NM_001042492.3(NF1):c.205-31_205-28del rs1567816000
NM_001042492.3(NF1):c.205-3_205-2del rs2544690255
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2251+3A>C rs2067021249
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2252G>T (p.Gly751Val) rs2151426834
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2324_2325del (p.Glu775fs)
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2326-5T>A rs1131691086
NM_001042492.3(NF1):c.2326-5T>G rs1131691086
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro) rs1205746953
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2352G>T (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.2410-1G>C rs1057518792
NM_001042492.3(NF1):c.244T>C (p.Ser82Pro) rs1597629813
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly) rs199474739
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro) rs1555605393
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001042492.3(NF1):c.2850+2T>G rs1597715880
NM_001042492.3(NF1):c.2850_2850+2dup rs1597715874
NM_001042492.3(NF1):c.2851-1G>A rs1597716274
NM_001042492.3(NF1):c.2851-2A>C rs2151430455
NM_001042492.3(NF1):c.288+545A>G
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.288+5G>T rs1555605409
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.2990+5G>C rs1555614464
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3114-1G>T rs1555614611
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val) rs2151433685
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu) rs2151433872
NM_001042492.3(NF1):c.3315-1G>A rs1567850984
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp) rs1597719654
NM_001042492.3(NF1):c.3496+1G>A rs2067138719
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg) rs2151435424
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp) rs1060500374
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3709-9T>A
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=) rs1452005208
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.3974G>T (p.Arg1325Met) rs863224447
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4174-9T>A
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg) rs2067621676
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile) rs1555618516
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+1dup rs1567862095
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4333-1G>T rs1418965797
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp) rs1567862283
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg) rs1555618656
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4416_4430+8del rs2508414236
NM_001042492.3(NF1):c.4430+1G>T rs773151680
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys) rs2508421977
NM_001042492.3(NF1):c.4577+1del rs2508422206
NM_001042492.3(NF1):c.4724+2T>G rs1597748995
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4725-2A>G rs1295045178
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val) rs1567865010
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.479G>A (p.Arg160Lys) rs199474752
NM_001042492.3(NF1):c.480-2A>C
NM_001042492.3(NF1):c.4835+11561C>G
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr) rs1555619423
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro) rs2151537617
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr) rs1131691123
NM_001042492.3(NF1):c.5268+5_5268+6del rs2508698916
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5609+5G>A rs1597832498
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro) rs786202112
NM_001042492.3(NF1):c.5610-2A>C rs1135402876
NM_001042492.3(NF1):c.5630T>C (p.Leu1877Pro) rs2069448419
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.586+5G>C rs1060500284
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.587-1G>C rs2143773909
NM_001042492.3(NF1):c.587-3C>G rs375188075
NM_001042492.3(NF1):c.60+2T>C rs2143145948
NM_001042492.3(NF1):c.60+2del rs1131691101
NM_001042492.3(NF1):c.6003_6006+1dup rs2508737761
NM_001042492.3(NF1):c.6007-2_6007del rs1597842196
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn) rs2069669492
NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg) rs1555534600
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6148-18A>G rs544123874
NM_001042492.3(NF1):c.6148-2A>C
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr) rs1060500382
NM_001042492.3(NF1):c.6343C>A (p.Pro2115Thr) rs2151554894
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile) rs1555534770
NM_001042492.3(NF1):c.6427+1G>T rs2151555200
NM_001042492.3(NF1):c.6428-1del rs2508752816
NM_001042492.3(NF1):c.6428-2A>G rs1060500312
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.655-1G>C
NM_001042492.3(NF1):c.655-2A>G rs1555608734
NM_001042492.3(NF1):c.655-7_655-2del
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+31T>G rs2151556799
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6705-1G>C rs1060500356
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6705-3C>G rs1131691079
NM_001042492.3(NF1):c.6806_6819+5del rs2508759785
NM_001042492.3(NF1):c.6819+1G>C rs1555534964
NM_001042492.3(NF1):c.6819+1del rs2508759885
NM_001042492.3(NF1):c.6820-1G>C rs1060500266
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu) rs2069743547
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter) rs2151559233
NM_001042492.3(NF1):c.68dup (p.Thr25fs) rs2143625205
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del) rs587782819
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.7062+1_7062+5del rs1567619134
NM_001042492.3(NF1):c.7165G>C (p.Ala2389Pro)
NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp) rs1597851443
NM_001042492.3(NF1):c.7189+3A>C rs267606610
NM_001042492.3(NF1):c.7190-1G>A rs2070073417
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg) rs1597858362
NM_001042492.3(NF1):c.731-1G>A rs1555608928
NM_001042492.3(NF1):c.731-1G>T rs1555608928
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.7321+2dup
NM_001042492.3(NF1):c.7321G>A (p.Ala2441Thr)
NM_001042492.3(NF1):c.7366_7457+21del rs2508805418
NM_001042492.3(NF1):c.7458-1G>T rs1597862012
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.7869+1G>T
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.7968_7970+2delinsACAC rs1597867032
NM_001042492.3(NF1):c.7970+1dup
NM_001042492.3(NF1):c.7970+2T>C rs2151583480
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7970+5G>C rs1567627286
NM_001042492.3(NF1):c.7970+6T>C rs1555536775
NM_001042492.3(NF1):c.7971-1G>A rs1417908560
NM_001042492.3(NF1):c.7971-2A>C rs779079091
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro) rs1597659939
NM_001042492.3(NF1):c.8113+1G>T
NM_001042492.3(NF1):c.8113+2T>G rs1597868312
NM_001042492.3(NF1):c.8114-1G>C rs1597868727
NM_001042492.3(NF1):c.8160+1G>C
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042492.3(NF1):c.889-1G>C rs587781517
NM_001042492.3(NF1):c.889-1G>T rs587781517
NM_001042492.3(NF1):c.889-1del rs2544793215
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001042750.2(STAG2):c.2584A>G (p.Arg862Gly) rs1556553319
NM_001048174.2(MUTYH):c.-6-1G>A
NM_001048174.2(MUTYH):c.1102+1G>T rs587781337
NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser) rs1064795219
NM_001048174.2(MUTYH):c.1240-1G>T rs876660837
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) rs876659414
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) rs876660774
NM_001048174.2(MUTYH):c.1392_1392+6del rs864621967
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.1393-2A>G rs2523849246
NM_001048174.2(MUTYH):c.1393-2_1393-1del rs1570346782
NM_001048174.2(MUTYH):c.1430del (p.Cys477fs) rs2523841162
NM_001048174.2(MUTYH):c.1434+1G>A rs876659420
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.1434+2del rs2149102703
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.1434+4_1434+5del rs2149102589
NM_001048174.2(MUTYH):c.1450del (p.Gln484fs) rs1315680518
NM_001048174.2(MUTYH):c.1516del (p.Arg506fs) rs2523737120
NM_001048174.2(MUTYH):c.1537del (p.Ala513fs) rs1644350830
NM_001048174.2(MUTYH):c.1561del (p.Gln521fs) rs773720534
NM_001048174.2(MUTYH):c.179G>C (p.Arg60Thr) rs2524275031
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val) rs1570467133
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) rs1557485553
NM_001048174.2(MUTYH):c.264+1G>T rs1553130042
NM_001048174.2(MUTYH):c.264+5G>A rs2524258876
NM_001048174.2(MUTYH):c.265-2A>G rs2524250418
NM_001048174.2(MUTYH):c.304+2T>C rs2524243548
NM_001048174.2(MUTYH):c.305-2A>G rs863224452
NM_001048174.2(MUTYH):c.317A>G (p.Glu106Gly)
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val) rs864622450
NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr) rs770153763
NM_001048174.2(MUTYH):c.378+1del rs2524216149
NM_001048174.2(MUTYH):c.378+2T>G rs1553129521
NM_001048174.2(MUTYH):c.378G>A (p.Gln126=) rs1645260006
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.379-1G>T rs1057520660
NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter) rs2524361370
NM_001048174.2(MUTYH):c.420+5G>A rs1325104263
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=) rs876658641
NM_001048174.2(MUTYH):c.420G>C (p.Glu140Asp)
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro) rs143353451
NM_001048174.2(MUTYH):c.479_492+1del rs766553845
NM_001048174.2(MUTYH):c.492+1del rs1553128712
NM_001048174.2(MUTYH):c.493-2A>G rs1553128663
NM_001048174.2(MUTYH):c.493-3C>G rs2149153407
NM_001048174.2(MUTYH):c.54_57dup (p.Glu20fs) rs1645571595
NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg) rs1645128943
NM_001048174.2(MUTYH):c.606+1G>T rs878854193
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His) rs199989617
NM_001048174.2(MUTYH):c.613G>C (p.Gly205Arg) rs377639760
NM_001048174.2(MUTYH):c.622G>A (p.Asp208Asn) rs1570409700
NM_001048174.2(MUTYH):c.650G>T (p.Arg217Leu) rs140342925
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly) rs587782885
NM_001048174.2(MUTYH):c.704+1G>A
NM_001048174.2(MUTYH):c.704+1G>T
NM_001048174.2(MUTYH):c.740_745dup (p.Gly248_Asp249insAlaGly) rs2524086960
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.764T>C (p.Met255Thr) rs1060501327
NM_001048174.2(MUTYH):c.849+1G>A rs2149136521
NM_001048174.2(MUTYH):c.914-1G>A rs2149130255
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) rs104895225
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg) rs104895253
NM_001069.3(TUBB2A):c.515C>T (p.Ser172Leu)
NM_001070.5(TUBG1):c.41G>A (p.Gly14Asp)
NM_001077365.2(POMT1):c.141T>G (p.Tyr47Ter) rs752941420
NM_001077653.2(TBX20):c.130C>T (p.Gln44Ter) rs2546997554
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter) rs2546997545
NM_001077653.2(TBX20):c.205G>T (p.Gly69Ter) rs1790276091
NM_001077653.2(TBX20):c.418dup (p.Val140fs) rs1562567739
NM_001077653.2(TBX20):c.697dup (p.Ile233fs) rs2128714664
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) rs1881107186
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079872.2(CUL4B):c.1204C>G (p.Arg402Gly) rs1260356990
NM_001079872.2(CUL4B):c.1852+1G>A rs797044862
NM_001079872.2(CUL4B):c.1852+1del rs1556200443
NM_001080.3(ALDH5A1):c.1506_1521del (p.Glu501_Cys502insTer) rs1759979356
NM_001080449.3(DNA2):c.1983+1G>T rs1415432326
NM_001080453.3(INTS1):c.1711+1G>A rs1782841146
NM_001081550.2(THOC2):c.2818G>A (p.Glu940Lys) rs2521055640
NM_001083619.3(GRIA2):c.2420C>T (p.Ala807Val) rs2127004544
NM_001083962.2(TCF4):c.1486+2T>C rs1555721921
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp) rs2047119736
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro) rs1555710416
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del) rs1555710171
NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro) rs2047096127
NM_001083962.2(TCF4):c.991-1G>A rs2512251370
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp) rs2505613797
NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu) rs1297025959
NM_001098.3(ACO2):c.1181G>A (p.Gly394Glu) rs761368190
NM_001098.3(ACO2):c.1722G>C (p.Trp574Cys) rs869312927
NM_001099404.2(SCN5A):c.612-1G>C rs1553706324
NM_001100.4(ACTA1):c.218T>G (p.Ile73Ser) rs1553255501
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu) rs1554329281
NM_001101.5(ACTB):c.779C>A (p.Ala260Glu) rs1784808970
NM_001101.5(ACTB):c.888C>G (p.Asn296Lys) rs769182426
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001110219.3(GJB6):c.148G>C (p.Asp50His) rs1869351345
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110792.2(MECP2):c.348G>T (p.Trp116Cys) rs1557137745
NM_001110792.2(MECP2):c.397G>C (p.Asp133His) rs2522106457
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) rs28934904
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.787_889del (p.Pro263fs) rs2522068701
NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer) rs2522056473
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.3227T>C (p.Leu1076Pro) rs2519705025
NM_001111125.3(IQSEC2):c.3859C>T (p.Gln1287Ter) rs2519672613
NM_001111125.3(IQSEC2):c.4002T>A (p.Tyr1334Ter) rs2519670710
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser) rs2497800940
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro) rs1830547696
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu) rs2539070821
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1134+1G>T rs112809381
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp) rs2539064456
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro) rs989537576
NM_001114753.3(ENG):c.1312-2A>G rs2539061224
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-2del rs2539059977
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro) rs778594104
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg) rs2539107399
NM_001114753.3(ENG):c.1686+1G>C rs1554809228
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs) rs2539056673
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del) rs1830619692
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro) rs2539077645
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+5G>C rs2539077593
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr) rs1370852588
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro) rs751778614
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.816+5G>C rs2539073850
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro) rs2539073270
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro) rs2539072930
NM_001114753.3(ENG):c.95T>A (p.Leu32His) rs2539107650
NM_001122630.2(CDKN1C):c.788-1G>A rs1848884556
NM_001122659.3(EDNRB):c.87_88dup (p.Gly30fs) rs2501610771
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs) rs1555537637
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001127178.3(PIGG):c.760-1G>A rs2474641210
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) rs886037945
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val) rs2513503660
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5134-2A>C rs2512644126
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5941-2A>G rs1555731992
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs) rs886039575
NM_001127511.3(APC):c.-190G>A rs879253785
NM_001127511.3(APC):c.-191T>G rs879253783
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG rs1580995904
NM_001127644.2(GABRA1):c.166C>T (p.Arg56Cys)
NM_001127644.2(GABRA1):c.280C>T (p.Arg94Cys) rs1457242041
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr) rs755820725
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.36+2T>C rs2149248633
NM_001128425.2(MUTYH):c.933_933+1del rs1553127514
NM_001128840.3(CACNA1D):c.4362+1G>C rs1553676901
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) rs747559032
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln) rs1566606055
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134407.3(GRIN2A):c.1844A>G (p.Asn615Ser) rs2506111835
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1925T>G (p.Leu642Arg) rs2042448519
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001136157.2(OTUD5):c.1543C>T (p.Arg515Trp) rs2519708540
NM_001142864.4(PIEZO1):c.7477CTGGAG[1] (p.2493LE[1]) rs587776992
NM_001148.6(ANK2):c.10360del (p.Arg3454fs) rs2096016231
NM_001148.6(ANK2):c.2179-1G>A rs2065825161
NM_001159699.2(FHL1):c.146_155del (p.Asp49fs)
NM_001161352.2(KCNMA1):c.826G>C (p.Ala276Pro)
NM_001162501.2(TNRC6B):c.4583-2A>G rs2071205689
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_001165963.4(SCN1A):c.1029-2A>C rs2468190770
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro) rs2105982276
NM_001165963.4(SCN1A):c.2512_2514del (p.Phe838del) rs2105817065
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg) rs1559200901
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His) rs121917971
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys) rs2468435708
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) rs121917974
NM_001165963.4(SCN1A):c.4327G>C (p.Asp1443His) rs1573991676
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr) rs2105447247
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.5174_5179del (p.Gly1725_Trp1726del) rs2468336207
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.4(SCN1A):c.5707T>G (p.Tyr1903Asp)
NM_001165963.4(SCN1A):c.841C>A (p.Pro281Thr) rs1553549660
NM_001170629.2(CHD8):c.2279C>T (p.Thr760Ile)
NM_001170629.2(CHD8):c.2730+1G>C rs2501923179
NM_001170629.2(CHD8):c.2907+1G>A
NM_001170629.2(CHD8):c.3308-1G>A rs1888129073
NM_001170629.2(CHD8):c.3683A>G (p.Asp1228Gly) rs2501900617
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg) rs1553547885
NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs) rs1553544102
NM_001172509.2(SATB2):c.302T>C (p.Leu101Pro) rs2469034035
NM_001173990.3(TMEM216):c.326dup (p.Gln110fs) rs2539896601
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1697C>A (p.Pro566Gln) rs1555985059
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro) rs772837341
NM_001190274.2(FBXO11):c.1429A>T (p.Asn477Tyr) rs2531101705
NM_001190274.2(FBXO11):c.1783G>T (p.Gly595Cys)
NM_001190274.2(FBXO11):c.2105A>T (p.Asn702Ile)
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs) rs2530936889
NM_001190737.2(NFIB):c.1061-1G>C rs2537830164
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001197104.2(KMT2A):c.3539G>A (p.Gly1180Asp) rs1555038115
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe) rs1950203796
NM_001197104.2(KMT2A):c.8570T>G (p.Leu2857Arg) rs1057520696
NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg) rs138340807
NM_001205019.2(GK):c.1144G>A (p.Ala382Thr) rs753857355
NM_001205019.2(GK):c.152+1G>C rs1933016162
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2105C>G (p.Ala702Gly)
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val) rs1654707104
NM_001205293.3(CACNA1E):c.4268T>C (p.Ile1423Thr) rs1658149520
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.319+2T>G rs2526031776
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.533-2A>G
NM_001232.4(CASQ2):c.606+1G>T
NM_001232.4(CASQ2):c.925del (p.Asp309fs) rs2464840483
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001242896.3(DEPDC5):c.194-1G>A rs2148102743
NM_001242896.3(DEPDC5):c.3805+1G>T rs2522513585
NM_001243133.2(NLRP3):c.1706G>T (p.Gly569Val)
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.469C>T (p.Leu157Phe) rs2054761091
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro) rs2054755647
NM_001244008.2(KIF1A):c.641G>A (p.Ser214Asn) rs1553638309
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro) rs672601371
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.824T>C (p.Leu275Pro) rs2054279545
NM_001256007.3(PNPLA8):c.2227C>T (p.Gln743Ter) rs868796441
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile) rs2079442813
NM_001256071.3(RNF213):c.12365A>C (p.Asp4122Ala) rs1555676146
NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln) rs1557047215
NM_001257180.2(SLC20A2):c.935-3C>G rs2131008814
NM_001258038.2(SPRY1):c.173_174insAG (p.Val59fs) rs1725164851
NM_001267550.1(TTN):c.106531+2T>A rs878854373
NM_001267550.2(TTN):c.100433G>A (p.Trp33478Ter)
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.100742dup (p.Thr33582fs) rs2468602856
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101056_101060delinsATGA (p.Val33686fs)
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter) rs2468576682
NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter) rs2531939450
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101884C>T (p.Gln33962Ter)
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) rs534613934
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs) rs1690631284
NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter) rs764821435
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.102096_102097del (p.Thr34033fs)
NM_001267550.2(TTN):c.10219del (p.Tyr3407fs) rs2531935860
NM_001267550.2(TTN):c.102234_102235del (p.Arg34079fs) rs2468533193
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs) rs754731686
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter) rs1690344942
NM_001267550.2(TTN):c.102766del (p.Arg34256fs) rs2468510942
NM_001267550.2(TTN):c.102842dup (p.Thr34282fs) rs2468507391
NM_001267550.2(TTN):c.102876_102877delinsAT (p.Tyr34292_Lys34293delinsTer) rs2468505868
NM_001267550.2(TTN):c.103117_103124del (p.Glu34373fs) rs2468495794
NM_001267550.2(TTN):c.103184_103185dup (p.Trp34396fs)
NM_001267550.2(TTN):c.103303del (p.Arg34435fs) rs2468488044
NM_001267550.2(TTN):c.103322_103323dup (p.Ala34442fs) rs2468486894
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.103730del (p.Gln34577fs) rs2468469410
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) rs1689777278
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter) rs2154134580
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs) rs2154134575
NM_001267550.2(TTN):c.104069del (p.Gly34690fs) rs2154134397
NM_001267550.2(TTN):c.104087del (p.Pro34696fs) rs1553489404
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs) rs2154134297
NM_001267550.2(TTN):c.104197dup (p.Ile34733fs) rs2468451119
NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter) rs756003817
NM_001267550.2(TTN):c.104393del (p.Lys34798fs) rs2468441688
NM_001267550.2(TTN):c.104418_104419del (p.Glu34808fs) rs1181631215
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104573del (p.Ile34858fs) rs1689352168
NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter) rs2468426201
NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter) rs1181086213
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter) rs2468418880
NM_001267550.2(TTN):c.105057_105059del (p.Tyr35019_Lys35020delinsTer)
NM_001267550.2(TTN):c.105161del (p.Pro35054fs) rs1689079381
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs) rs2154133153
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs) rs1688812000
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs) rs2468365185
NM_001267550.2(TTN):c.106368_106374+6delinsACAAA
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs) rs2468304792
NM_001267550.2(TTN):c.107589del (p.Phe35863fs)
NM_001267550.2(TTN):c.1076_1080del (p.Met359fs) rs2534089825
NM_001267550.2(TTN):c.1118_1121del (p.Glu373fs) rs2534087552
NM_001267550.2(TTN):c.1129G>T (p.Glu377Ter) rs1012350596
NM_001267550.2(TTN):c.11311+1G>T rs1553963537
NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter) rs2530723915
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter) rs2530718128
NM_001267550.2(TTN):c.12217del (p.Thr4073fs)
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter) rs1553940122
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter) rs794729308
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs) rs1553937967
NM_001267550.2(TTN):c.13168G>T (p.Glu4390Ter)
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter) rs2530637215
NM_001267550.2(TTN):c.13181_13182del (p.Asn4394fs) rs2530636896
NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter) rs868502763
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter) rs777547090
NM_001267550.2(TTN):c.13380del (p.Asp4461fs) rs2530626511
NM_001267550.2(TTN):c.133_137delinsC (p.Val45fs)
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.13697_13701del (p.Gln4566fs) rs2530609590
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter) rs755338726
NM_001267550.2(TTN):c.13880_13881del (p.Thr4627fs) rs2530600313
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter) rs2530597033
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs) rs767038068
NM_001267550.2(TTN):c.14050G>T (p.Gly4684Ter)
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter) rs1217230000
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter) rs1554023044
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.229C>T (p.Arg77Ter) rs1347415564
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs) rs1060500528
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.2670C>A (p.Tyr890Ter)
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs) rs1574771625
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter) rs2092857726
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.3939del (p.Met1314fs) rs2533093966
NM_001267550.2(TTN):c.3976A>T (p.Lys1326Ter)
NM_001267550.2(TTN):c.4008del (p.Arg1336fs) rs2533076634
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40516G>T (p.Glu13506Ter)
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs) rs2060470205
NM_001267550.2(TTN):c.41202del (p.Phe13734fs) rs2471632050
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs) rs1436937190
NM_001267550.2(TTN):c.41367dup (p.Val13790fs) rs2471619850
NM_001267550.2(TTN):c.41432del (p.Val13811fs) rs2060408539
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41578del (p.Leu13860fs)
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter) rs2154230108
NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter) rs1336274191
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.41986C>T (p.Gln13996Ter)
NM_001267550.2(TTN):c.42154del (p.Ile14052fs) rs2471553789
NM_001267550.2(TTN):c.42463G>T (p.Glu14155Ter)
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs) rs2471527080
NM_001267550.2(TTN):c.4257dup (p.Ala1420fs) rs2532976979
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs) rs2471523624
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs) rs2060106818
NM_001267550.2(TTN):c.42728dup (p.Glu14244fs) rs2471515346
NM_001267550.2(TTN):c.42786del (p.Trp14262fs) rs2471513686
NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs) rs2471512595
NM_001267550.2(TTN):c.42822del (p.Lys14274fs) rs2060064534
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer) rs1203006457
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter) rs754568652
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter) rs2532971329
NM_001267550.2(TTN):c.43538del (p.Ser14513fs) rs2471459148
NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter) rs2471418730
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44046_44047del (p.His14682fs) rs2471404660
NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs) rs2471403950
NM_001267550.2(TTN):c.44143del (p.Leu14715fs) rs2471401478
NM_001267550.2(TTN):c.44149del (p.Thr14717fs) rs2471401192
NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs) rs2471378577
NM_001267550.2(TTN):c.44204dup (p.Asn14735fs)
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44335dup (p.Glu14779fs) rs2059495906
NM_001267550.2(TTN):c.44378del (p.Pro14793fs) rs1064796121
NM_001267550.2(TTN):c.44831del (p.Phe14944fs) rs2471101614
NM_001267550.2(TTN):c.44840del (p.Pro14947fs) rs2471101226
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter) rs2058478213
NM_001267550.2(TTN):c.45009T>A (p.Cys15003Ter) rs2058350211
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs) rs2154212181
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter) rs1060500487
NM_001267550.2(TTN):c.45283G>T (p.Glu15095Ter) rs2154212024
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45433_45445delinsGG (p.Lys15145fs) rs2471039916
NM_001267550.2(TTN):c.45547_45551del (p.Leu15183fs) rs2471035397
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.45617-1G>C rs2471025366
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) rs1559873786
NM_001267550.2(TTN):c.45802_45803del (p.Asp15268fs) rs2471019114
NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs) rs2471017401
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.46337_46338del (p.Arg15446fs) rs2470985498
NM_001267550.2(TTN):c.46344dup (p.Ile15449fs) rs2470985275
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs) rs2154210696
NM_001267550.2(TTN):c.46421_46422del (p.Phe15474fs) rs2470982805
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter) rs765316175
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs) rs2470974058
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs) rs2470968919
NM_001267550.2(TTN):c.47125_47126del (p.Asp15709fs) rs2470897479
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.47187_47188del (p.Phe15730fs)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47486_47498del (p.Glu15828_Tyr15829insTer) rs2470875483
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer) rs1447249014
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter) rs2057501802
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter) rs2057499255
NM_001267550.2(TTN):c.47885dup (p.Met15963fs) rs2057454001
NM_001267550.2(TTN):c.48119del (p.Arg16040fs) rs2470818301
NM_001267550.2(TTN):c.48142del (p.Ile16048fs) rs2470817715
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs) rs2470805048
NM_001267550.2(TTN):c.48264del (p.Gly16089fs) rs2154208052
NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter) rs2470803770
NM_001267550.2(TTN):c.48334del (p.Asp16111_Leu16112insTer) rs2470763679
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter) rs1312425985
NM_001267550.2(TTN):c.48502del (p.Thr16168fs) rs2470739291
NM_001267550.2(TTN):c.48629del (p.Ala16210fs) rs2057135958
NM_001267550.2(TTN):c.48638+2T>G rs2470730854
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter) rs2470693959
NM_001267550.2(TTN):c.48813del (p.Ala16272fs) rs2470682520
NM_001267550.2(TTN):c.48889_48893del (p.Met16297fs)
NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter) rs2470642551
NM_001267550.2(TTN):c.49378dup (p.Ser16460fs) rs2470629154
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter) rs754776552
NM_001267550.2(TTN):c.49532+1G>T rs2470620124
NM_001267550.2(TTN):c.49560dup (p.Tyr16521fs) rs2470582888
NM_001267550.2(TTN):c.49586dup (p.Asn16529fs)
NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter) rs1576441321
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter) rs2056613965
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
NM_001267550.2(TTN):c.4995dup (p.Thr1666fs)
NM_001267550.2(TTN):c.50069del (p.Lys16690fs) rs1064796139
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs) rs794729321
NM_001267550.2(TTN):c.50162_50163del (p.Tyr16721fs) rs2470536986
NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter) rs2470522609
NM_001267550.2(TTN):c.50330del (p.Asn16777fs) rs2470522008
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter) rs72677249
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs) rs2470513891
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) rs1553696967
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter) rs1553696233
NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter) rs2470493165
NM_001267550.2(TTN):c.50859del (p.Asp16952_Cys16953insTer) rs2470483012
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter) rs794729268
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter) rs794729269
NM_001267550.2(TTN):c.51129dup (p.Val17044fs) rs2470469852
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr) rs2154198963
NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter) rs2470424243
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51501_51502delinsCTCCTTTGTAATATGAGGTACCTTTGTAATA (p.Trp17168delinsSerPheValIleTer)
NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter) rs2470411842
NM_001267550.2(TTN):c.51528del (p.Ser17177fs) rs2470410679
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs) rs1553691187
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs) rs2470384677
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter) rs2154198344
NM_001267550.2(TTN):c.52404del (p.Phe17468fs) rs2470347864
NM_001267550.2(TTN):c.52518del (p.Glu17507fs) rs753584634
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter) rs1559746821
NM_001267550.2(TTN):c.5268del (p.Glu1756fs) rs2532881744
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter) rs2055319182
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs) rs2470299695
NM_001267550.2(TTN):c.530del (p.Asn177fs)
NM_001267550.2(TTN):c.53288-1G>C rs1553685927
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53412del (p.Asp17805fs) rs2470278474
NM_001267550.2(TTN):c.53535del (p.Cys17845fs) rs2470272884
NM_001267550.2(TTN):c.53543del (p.Pro17848fs) rs2470272284
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53616del (p.Glu17873fs) rs2470202207
NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter) rs774663244
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs) rs1064796474
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs) rs2470175213
NM_001267550.2(TTN):c.5404dup (p.Glu1802fs) rs2532874523
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54259del (p.Asp18087fs) rs2470159760
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs) rs2054384043
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter) rs769624146
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs) rs2054222422
NM_001267550.2(TTN):c.54427del (p.Ala18143fs) rs2470124525
NM_001267550.2(TTN):c.5460_5466delinsAGT (p.Arg1821fs) rs1554007128
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.54812-2A>T rs2470055476
NM_001267550.2(TTN):c.54976_54979del (p.Asp18326fs) rs2470049545
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs) rs2470048518
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs) rs2154193431
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.55269+1G>A rs2470031684
NM_001267550.2(TTN):c.5534T>A (p.Leu1845Ter) rs794729576
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs) rs2470013243
NM_001267550.2(TTN):c.55425dup (p.Val18476fs) rs2470012385
NM_001267550.2(TTN):c.55492del (p.Leu18498fs) rs2470004236
NM_001267550.2(TTN):c.55522G>T (p.Gly18508Ter)
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs) rs2154192604
NM_001267550.2(TTN):c.55893G>A (p.Trp18631Ter) rs2154192598
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter) rs764985774
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter) rs1391010387
NM_001267550.2(TTN):c.56178del (p.Asp18727fs) rs2469906284
NM_001267550.2(TTN):c.56246T>A (p.Leu18749Ter)
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs) rs2469901335
NM_001267550.2(TTN):c.56440_56443del (p.Gly18814fs) rs2469888970
NM_001267550.2(TTN):c.56472_56473del (p.Glu18826fs)
NM_001267550.2(TTN):c.56473del (p.Arg18825fs) rs2469888162
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter) rs1576247054
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs) rs1294679653
NM_001267550.2(TTN):c.56598del (p.Ile18867fs) rs1553664644
NM_001267550.2(TTN):c.56641del (p.Leu18881fs) rs2469881916
NM_001267550.2(TTN):c.56720del (p.Glu18907fs) rs2469871880
NM_001267550.2(TTN):c.5674del (p.Asp1892fs) rs2154346038
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.56940_56957delinsT (p.Ala18981fs) rs2469861021
NM_001267550.2(TTN):c.56978dup (p.Phe18994fs) rs2469852440
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57277del (p.Gln19093fs) rs2469805839
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.57334del (p.Ile19112fs) rs2469802743
NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter) rs2469800384
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs) rs760967554
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.57865G>T (p.Glu19289Ter)
NM_001267550.2(TTN):c.58157dup (p.Thr19387fs) rs1559622431
NM_001267550.2(TTN):c.58290dup (p.Asp19431Ter) rs2469615248
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs) rs2469599218
NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter) rs2469594241
NM_001267550.2(TTN):c.58788_58795dup (p.Thr19599delinsAsnTer) rs2469577137
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.58925del (p.Pro19642fs) rs2469572128
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59277del (p.Val19760fs) rs2469551141
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter) rs794729276
NM_001267550.2(TTN):c.59394del (p.Val19800fs) rs2469538973
NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs) rs2469530748
NM_001267550.2(TTN):c.59605dup (p.Ser19869fs) rs2469530688
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter) rs2469513309
NM_001267550.2(TTN):c.59771G>A (p.Trp19924Ter)
NM_001267550.2(TTN):c.59836_59842del (p.Gln19946fs)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter) rs2469494483
NM_001267550.2(TTN):c.60138T>A (p.Tyr20046Ter)
NM_001267550.2(TTN):c.60153del (p.Ala20052fs)
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter) rs2092153679
NM_001267550.2(TTN):c.60716del (p.Gly20239fs) rs2469460047
NM_001267550.2(TTN):c.60837_60840delinsAA (p.Val20280fs) rs2469454918
NM_001267550.2(TTN):c.60902del (p.Ser20301fs) rs1553643140
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61197_61198insAT (p.Gly20400fs) rs2049985232
NM_001267550.2(TTN):c.61218T>G (p.Tyr20406Ter)
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs) rs1131691981
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61612del (p.Glu20538fs) rs2469421735
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs) rs886039084
NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter) rs2469415251
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs) rs2154184083
NM_001267550.2(TTN):c.61855del (p.Val20619fs) rs2469411858
NM_001267550.2(TTN):c.61890del (p.Asn20631fs) rs2469410613
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs) rs2469400184
NM_001267550.2(TTN):c.62173G>T (p.Glu20725Ter)
NM_001267550.2(TTN):c.62197_62198insC (p.Cys20733fs) rs2469397711
NM_001267550.2(TTN):c.62272del (p.Glu20758fs)
NM_001267550.2(TTN):c.62299C>T (p.Gln20767Ter) rs1553640642
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62506_62510del (p.Lys20835_Arg20836insTer)
NM_001267550.2(TTN):c.62610dup (p.Leu20871fs)
NM_001267550.2(TTN):c.62627del (p.Val20876fs) rs1553640190
NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter) rs2469376762
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter) rs1306891128
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs) rs2469363669
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63142_63143del (p.Glu21048fs) rs2469355092
NM_001267550.2(TTN):c.63234del (p.Lys21078fs) rs2469329299
NM_001267550.2(TTN):c.63467del (p.Pro21156fs) rs2469318845
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer) rs2154182600
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs) rs2154182483
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63615del (p.Val21206fs)
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter) rs2049307995
NM_001267550.2(TTN):c.63792del (p.Asp21265fs) rs2469297748
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter) rs2092121151
NM_001267550.2(TTN):c.63898_63899del (p.His21300fs) rs2469283584
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64198_64202dup (p.Tyr21401Ter)
NM_001267550.2(TTN):c.64243del (p.Trp21415fs) rs2469245062
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64287del (p.Gly21430fs) rs2049038862
NM_001267550.2(TTN):c.64397-1G>A rs876657668
NM_001267550.2(TTN):c.64397-2del rs2469181316
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64468del (p.Val21490fs) rs2469178279
NM_001267550.2(TTN):c.64495_64498dup (p.Trp21500Ter)
NM_001267550.2(TTN):c.64586_64587del (p.Val21529fs) rs2469173765
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter) rs767011515
NM_001267550.2(TTN):c.64849del (p.Thr21617fs) rs2469155018
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.6501del (p.Val2168fs)
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter) rs2469142626
NM_001267550.2(TTN):c.65156_65157dup (p.Pro21720fs) rs2469137282
NM_001267550.2(TTN):c.65324dup (p.Leu21776fs) rs2469106192
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65394del (p.Lys21798fs)
NM_001267550.2(TTN):c.65449del (p.Glu21817fs) rs2469101483
NM_001267550.2(TTN):c.65536del (p.Ser21846fs) rs2469098192
NM_001267550.2(TTN):c.65696_65706del (p.Lys21899fs) rs2469065314
NM_001267550.2(TTN):c.65704_65712delinsT (p.Gly21901_Thr21902insTer) rs2469065049
NM_001267550.2(TTN):c.65783_65805del (p.Arg21928fs)
NM_001267550.2(TTN):c.6583G>T (p.Glu2195Ter)
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66010del (p.Ala22004fs)
NM_001267550.2(TTN):c.66059_66060del (p.Leu22020fs) rs2469025786
NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter) rs760885240
NM_001267550.2(TTN):c.66176dup (p.Cys22059fs) rs2469016068
NM_001267550.2(TTN):c.66222dup (p.Ser22075fs)
NM_001267550.2(TTN):c.66401dup (p.Asn22134fs)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66593del (p.Ala22198fs) rs2468991750
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter) rs2468989119
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs) rs2154176484
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter) rs779240170
NM_001267550.2(TTN):c.669+1G>T rs1574982376
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs) rs2047417339
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.67374del (p.Lys22459_Val22460insTer) rs2468900294
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs) rs2468869425
NM_001267550.2(TTN):c.67932dup (p.Gly22645fs)
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter) rs1423648586
NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter) rs2468816812
NM_001267550.2(TTN):c.68427del (p.Glu22810fs) rs2468814033
NM_001267550.2(TTN):c.68442T>A (p.Tyr22814Ter) rs2468813508
NM_001267550.2(TTN):c.6857T>G (p.Leu2286Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68746_68749dup (p.Arg22917delinsAsnTer) rs2468794483
NM_001267550.2(TTN):c.68862dup (p.Gly22955fs) rs2468781847
NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter) rs2468776213
NM_001267550.2(TTN):c.69078del (p.Phe23026fs) rs2468772442
NM_001267550.2(TTN):c.69131del (p.Pro23044fs) rs2154173603
NM_001267550.2(TTN):c.69131dup (p.Gly23045fs) rs2154173603
NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs) rs886039741
NM_001267550.2(TTN):c.69244del (p.Thr23082fs) rs2468762969
NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter) rs2468761188
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.69422_69423delinsAAAAGGA (p.Gly23141fs) rs2468749792
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs) rs2046539116
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.69536_69543dup (p.Lys23182fs) rs2468743550
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) rs2046499843
NM_001267550.2(TTN):c.69999del (p.Glu23334fs) rs2468713552
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70131_70132dup (p.Trp23378fs)
NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer) rs2468706609
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs) rs2468696124
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs) rs1709775754
NM_001267550.2(TTN):c.70699dup (p.Tyr23567fs) rs2468678417
NM_001267550.2(TTN):c.70794del (p.Glu23599fs) rs1553612904
NM_001267550.2(TTN):c.70810C>T (p.Gln23604Ter) rs747651345
NM_001267550.2(TTN):c.7082del (p.Gly2361fs)
NM_001267550.2(TTN):c.70890_70891del (p.Pro23631fs) rs2468666500
NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639delinsArgAsnTer) rs2468665214
NM_001267550.2(TTN):c.71007del (p.Gly23670fs) rs2468661040
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs) rs1709577304
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.71176dup (p.Ile23726fs) rs2468654445
NM_001267550.2(TTN):c.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter) rs745999472
NM_001267550.2(TTN):c.71491_71492insT (p.Gly23831fs) rs1196000654
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71661del (p.Lys23887fs) rs2468631530
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter) rs1709195189
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs) rs2154171220
NM_001267550.2(TTN):c.72267_72270del (p.Asn24089fs)
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter) rs2154170941
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs) rs2468588490
NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter) rs2468588268
NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs) rs1553609137
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.72835_72838dup (p.Leu24280Ter) rs2468577902
NM_001267550.2(TTN):c.73114_73132del (p.Ile24372fs) rs2468564655
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter) rs1250752630
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs) rs2468554373
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73385_73386delinsC (p.Trp24462fs) rs2468551534
NM_001267550.2(TTN):c.73469dup (p.Asn24490fs) rs2468547967
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.73673del (p.Lys24558fs)
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter) rs753105114
NM_001267550.2(TTN):c.73767C>G (p.Tyr24589Ter)
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs) rs2468522858
NM_001267550.2(TTN):c.74246G>A (p.Trp24749Ter)
NM_001267550.2(TTN):c.74368_74372del (p.Lys24789_Leu24790insTer) rs2468507533
NM_001267550.2(TTN):c.74381_74382del (p.Ala24794fs) rs2468506986
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter) rs1708081683
NM_001267550.2(TTN):c.74901del (p.Lys24967fs) rs2468484409
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75468_75469delinsCT (p.Arg25157Ter) rs2468459965
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) rs1553603364
NM_001267550.2(TTN):c.75507_75508del (p.Ser25170fs) rs2468458306
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs) rs2468456267
NM_001267550.2(TTN):c.75568del (p.Ala25190fs) rs2468455749
NM_001267550.2(TTN):c.7557del (p.Gly2520fs) rs2532671828
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75669_75670del (p.Leu25224fs) rs2468451818
NM_001267550.2(TTN):c.75741del (p.Ser25248fs) rs2468449263
NM_001267550.2(TTN):c.75778C>T (p.Gln25260Ter)
NM_001267550.2(TTN):c.76023dup (p.Glu25342Ter)
NM_001267550.2(TTN):c.76238_76239del (p.Lys25413fs) rs2468425787
NM_001267550.2(TTN):c.76240dup (p.Val25414fs) rs1707514832
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter) rs763605078
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs) rs2154168044
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) rs869312078
NM_001267550.2(TTN):c.76401del (p.Glu25467_Val25468insTer) rs2468418251
NM_001267550.2(TTN):c.76403del (p.Val25468fs) rs2468417997
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs) rs1707425522
NM_001267550.2(TTN):c.76507del (p.Glu25503fs) rs2154167928
NM_001267550.2(TTN):c.76634del (p.Gly25545fs) rs2468408553
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76770del (p.Lys25590fs)
NM_001267550.2(TTN):c.76779del (p.Phe25593fs) rs2468402452
NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter) rs2468395152
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer) rs2468394423
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter) rs1707186504
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77113del (p.Lys25704_Ile25705insTer) rs2468387098
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs) rs2468386814
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer) rs1466647934
NM_001267550.2(TTN):c.77183del (p.Ser25728fs) rs2468384784
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter) rs2468382923
NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter) rs2468382669
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter) rs760625258
NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter) rs2468369853
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.7766del (p.Lys2588_Leu2589insTer) rs2532653345
NM_001267550.2(TTN):c.77884del (p.Gln25962fs) rs2468355094
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs) rs751230035
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78425del (p.Asn26142fs) rs2468333440
NM_001267550.2(TTN):c.78489dup (p.Ile26164fs) rs2468331033
NM_001267550.2(TTN):c.78563_78566dup (p.Glu26189delinsAspTer) rs2468328310
NM_001267550.2(TTN):c.78572dup (p.Arg26192fs)
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs) rs1706342425
NM_001267550.2(TTN):c.78697del (p.Glu26233fs) rs2468323213
NM_001267550.2(TTN):c.78728_78731del (p.Lys26243fs) rs2468321548
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.78961_78964del (p.His26321fs)
NM_001267550.2(TTN):c.78962_80999delinsTGCTTATT (p.His26321fs)
NM_001267550.2(TTN):c.79066G>T (p.Glu26356Ter)
NM_001267550.2(TTN):c.79275_79276del (p.Asp26427fs) rs2468301810
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs) rs886039211
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79618C>T (p.Gln26540Ter)
NM_001267550.2(TTN):c.79712T>G (p.Leu26571Ter) rs2468284394
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter) rs1705879851
NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter) rs2468282675
NM_001267550.2(TTN):c.79780del (p.Asp26595fs) rs2468281908
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer) rs2154165475
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs) rs1705700724
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer) rs2154165199
NM_001267550.2(TTN):c.80328del (p.Ala26777fs) rs2468261203
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs) rs1575674631
NM_001267550.2(TTN):c.80371dup (p.Asp26791fs) rs2468259366
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80401dup (p.Trp26801fs) rs2468257785
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter) rs2468248886
NM_001267550.2(TTN):c.80738G>A (p.Trp26913Ter) rs1705368893
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80855_80856dup (p.Thr26953Ter) rs2468240887
NM_001267550.2(TTN):c.80895_80896del (p.Ser26966fs)
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81009C>A (p.Cys27003Ter)
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter) rs2468227378
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs) rs749610641
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter) rs1384101598
NM_001267550.2(TTN):c.81522_81529del (p.Pro27174_Gly27175insTer) rs2468212825
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81746del (p.Asn27249fs) rs2468204803
NM_001267550.2(TTN):c.81747del (p.Asn27249fs) rs2468204757
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.81926G>A (p.Trp27309Ter)
NM_001267550.2(TTN):c.82173G>A (p.Trp27391Ter)
NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter) rs2468186675
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs) rs2468186571
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82310_82311del (p.Gly27437fs) rs2468182036
NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter) rs771006818
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter) rs2468175075
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs) rs1064795407
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.82659del (p.Glu27554fs) rs2468165346
NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter) rs2468154852
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter) rs2468154010
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) rs1559314812
NM_001267550.2(TTN):c.83284A>T (p.Arg27762Ter) rs781734969
NM_001267550.2(TTN):c.83360G>A (p.Trp27787Ter) rs2468134625
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs) rs2469725831
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs) rs1575633082
NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter) rs2469717681
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs) rs2154160413
NM_001267550.2(TTN):c.84286_84289del (p.Glu28096fs)
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.8442del (p.Phe2814fs) rs2532489689
NM_001267550.2(TTN):c.84476del (p.Gly28159fs) rs1553564694
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter) rs397517729
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) rs1553564589
NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter) rs2469696390
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter) rs2154159715
NM_001267550.2(TTN):c.84676_84679del (p.Glu28226fs)
NM_001267550.2(TTN):c.84819del (p.Trp28273fs) rs2154159514
NM_001267550.2(TTN):c.84933C>G (p.Tyr28311Ter) rs757013679
NM_001267550.2(TTN):c.84979del (p.Val28327fs)
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter) rs1553563519
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter) rs769664554
NM_001267550.2(TTN):c.85374dup (p.Glu28459Ter)
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs) rs2154159007
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter) rs1703274205
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs) rs762286447
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs) rs1219440385
NM_001267550.2(TTN):c.86105_86108del (p.Ile28702fs) rs2469642822
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs) rs2469637523
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86413_86417delinsATGG (p.Asp28805fs) rs2469629904
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86441del (p.Asn28814fs) rs2469628413
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter) rs765852996
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86992del (p.Thr28998fs) rs2469572245
NM_001267550.2(TTN):c.87143dup (p.Asn29048fs)
NM_001267550.2(TTN):c.87238del (p.Arg29080fs) rs757007819
NM_001267550.2(TTN):c.87256A>T (p.Lys29086Ter)
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs) rs2469555480
NM_001267550.2(TTN):c.87296dup (p.Asn29099fs) rs2469555432
NM_001267550.2(TTN):c.87381_87424dup (p.Thr29142delinsLysLeuSerLeuThrLeuLeuCysTer) rs2469550341
NM_001267550.2(TTN):c.87451del (p.Thr29151fs) rs2154156000
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs) rs2469547329
NM_001267550.2(TTN):c.87572dup (p.Val29192fs) rs2469544518
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs) rs1553553671
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter) rs1701973330
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs) rs756035074
NM_001267550.2(TTN):c.87835del (p.Arg29279fs) rs2154155616
NM_001267550.2(TTN):c.87841_87842del (p.Ser29281fs) rs2469527656
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.88000del (p.Asp29334fs) rs2469521534
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs) rs2154155280
NM_001267550.2(TTN):c.88184del (p.Phe29395fs) rs1553551651
NM_001267550.2(TTN):c.88311del (p.Pro29438fs) rs2469412099
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88636_88637del (p.Val29546fs) rs2469391309
NM_001267550.2(TTN):c.88696del (p.Ile29566fs) rs1064796323
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) rs794729360
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.8884_8898delinsTAAATG (p.Ala2962_Val2966delinsTer) rs2532456803
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs) rs2154152955
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter) rs2469353500
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter) rs2469351716
NM_001267550.2(TTN):c.89127T>A (p.Cys29709Ter)
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter) rs762411631
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs) rs2469338226
NM_001267550.2(TTN):c.89288del (p.Gly29763fs) rs1575534208
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.89985dup (p.Asp29996fs) rs2469307457
NM_001267550.2(TTN):c.90286_90292del (p.Gln30096fs) rs2469296980
NM_001267550.2(TTN):c.9047del (p.Met3016fs) rs2532400378
NM_001267550.2(TTN):c.90628del (p.Val30210fs) rs2154151163
NM_001267550.2(TTN):c.90657del (p.Ile30220fs) rs2469283054
NM_001267550.2(TTN):c.90721dup (p.Ser30241fs) rs2469280642
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90762del (p.Gly30255fs)
NM_001267550.2(TTN):c.90825del (p.Cys30276fs)
NM_001267550.2(TTN):c.90827dup (p.Cys30276fs) rs2469276710
NM_001267550.2(TTN):c.90900_90901del (p.Arg30300fs) rs2469274169
NM_001267550.2(TTN):c.90935del (p.Val30312fs) rs2469272983
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter) rs1553538469
NM_001267550.2(TTN):c.91192del (p.Arg30398fs) rs2469262451
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91352dup (p.Ser30452fs) rs2469239373
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs) rs1699247877
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.91550_91559del (p.Thr30517fs)
NM_001267550.2(TTN):c.91565-1G>A rs775248181
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter) rs1553536305
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.91784_91790delinsAC (p.Gly30595fs) rs2469186967
NM_001267550.2(TTN):c.91791del (p.Val30596_Tyr30597insTer)
NM_001267550.2(TTN):c.91859del (p.Pro30620fs) rs2469178597
NM_001267550.2(TTN):c.91875del (p.Pro30626fs) rs757451467
NM_001267550.2(TTN):c.91911_91913delinsAGTCATCT (p.Met30637fs) rs2469176505
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter) rs2154148429
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter) rs2469158014
NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter) rs2469154798
NM_001267550.2(TTN):c.92493del (p.Asp30832fs) rs2469152579
NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter) rs1296831661
NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter) rs2469149367
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs) rs1559175090
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter) rs1305222903
NM_001267550.2(TTN):c.92661del (p.Ala30888fs) rs2469148059
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter) rs2154147529
NM_001267550.2(TTN):c.9319A>T (p.Lys3107Ter)
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter) rs1454572839
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.93553del (p.Arg31185fs)
NM_001267550.2(TTN):c.93641del (p.Thr31214fs) rs2469112296
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer) rs2469109067
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter) rs1553528016
NM_001267550.2(TTN):c.93796del (p.Thr31266fs)
NM_001267550.2(TTN):c.93803_93804del (p.Lys31268fs)
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter) rs2469105624
NM_001267550.2(TTN):c.93875_93877delinsTT (p.Asn31292fs)
NM_001267550.2(TTN):c.9395del (p.Gly3132fs) rs2532340410
NM_001267550.2(TTN):c.94167del (p.Phe31389fs) rs747837187
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter) rs2469095187
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94298del (p.Tyr31433fs) rs2469083896
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter) rs763668385
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter) rs2469069452
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.94963G>T (p.Glu31655Ter)
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter) rs2154145831
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs) rs1697105934
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer) rs2154145523
NM_001267550.2(TTN):c.95343del (p.Arg31781_Val31782insTer) rs2469025705
NM_001267550.2(TTN):c.95443del (p.Glu31815fs)
NM_001267550.2(TTN):c.95452_95453delinsATATGCCAT (p.Gly31818fs) rs2469015635
NM_001267550.2(TTN):c.95526C>G (p.Tyr31842Ter)
NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter) rs768694953
NM_001267550.2(TTN):c.95723-2A>C rs2154144335
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs) rs2468967933
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter) rs2154144218
NM_001267550.2(TTN):c.95944del (p.Ser31982fs) rs2468964807
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) rs1553518529
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs) rs2154143867
NM_001267550.2(TTN):c.96477C>A (p.Cys32159Ter) rs2468932834
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs) rs2468927529
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer) rs2154143307
NM_001267550.2(TTN):c.96853del (p.Val32285fs)
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97212dup (p.Gly32405fs) rs2468893752
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) rs869312093
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.97405_97408del (p.Glu32469fs) rs2468887529
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs) rs1553515430
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.9751C>T (p.Gln3251Ter)
NM_001267550.2(TTN):c.97555_97558dup (p.Trp32520fs) rs1575386270
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer) rs2154141588
NM_001267550.2(TTN):c.97653del (p.Val32552fs) rs2468846150
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter) rs1301441435
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter) rs879097896
NM_001267550.2(TTN):c.98072del (p.Gly32691fs) rs2468791370
NM_001267550.2(TTN):c.98074del (p.Thr32692fs) rs2468791271
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.98245del (p.Ala32749fs) rs2468778141
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter) rs2532188334
NM_001267550.2(TTN):c.98628del (p.Phe32876fs) rs2468765145
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter) rs2468746262
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.99023_99026del (p.Leu33008fs) rs2468737336
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99041del (p.Ser33014fs) rs2154139357
NM_001267550.2(TTN):c.99081dup (p.Lys33028Ter) rs2468735181
NM_001267550.2(TTN):c.99425_99428del (p.Ile33142fs) rs2468684173
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001267550.2(TTN):c.9951del (p.Asp3316_Tyr3317insTer) rs2532184386
NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter) rs2468679007
NM_001267550.2(TTN):c.99613A>T (p.Lys33205Ter) rs2468677363
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.9979_9980del (p.Val3328fs) rs2532183675
NM_001267550.2(TTN):c.99859dup (p.Ile33287fs) rs2468668527
NM_001271.4(CHD2):c.1532T>C (p.Met511Thr) rs1555440555
NM_001271.4(CHD2):c.1622C>G (p.Pro541Arg) rs1555440561
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln) rs1567152270
NM_001271.4(CHD2):c.3413+1G>C rs2505562587
NM_001271.4(CHD2):c.4602G>T (p.Trp1534Cys) rs1555445563
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271696.3(ABCB7):c.2044G>A (p.Gly682Ser) rs797044558
NM_001273.5(CHD4):c.3659A>C (p.Lys1220Thr) rs1377989582
NM_001276270.2(MBD4):c.1544-1G>A
NM_001276270.2(MBD4):c.1647+1G>A
NM_001276270.2(MBD4):c.1A>G (p.Met1Val)
NM_001276270.2(MBD4):c.25_26del (p.Leu9fs) rs1198503871
NM_001276270.2(MBD4):c.3G>T (p.Met1Ile)
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) rs376923877
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>C rs111377893
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.2274+1del rs2534596587
NM_001277115.2(DNAH11):c.4817+1_4817+16del rs2534777695
NM_001277115.2(DNAH11):c.7812-2A>G rs1166463469
NM_001278116.2(L1CAM):c.1A>G (p.Met1Val) rs2521057345
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.524-2A>G rs2064763561
NM_001278716.2(FBXL4):c.1740_1742del (p.Leu581del) rs1770579596
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del) rs1205890585
NM_001282116.2(RFX3):c.764G>A (p.Arg255His)
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) rs1980777288
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001287491.2(TET3):c.2873G>A (p.Cys958Tyr)
NM_001287491.2(TET3):c.2980A>C (p.Lys994Gln) rs2467635159
NM_001287491.2(TET3):c.3071T>C (p.Leu1024Pro) rs2467651823
NM_001287491.2(TET3):c.3344T>C (p.Leu1115Pro)
NM_001288705.3(CSF1R):c.2442+5G>A rs281860275
NM_001289104.2(PRKCSH):c.684-1G>A
NM_001290223.2(DOCK1):c.2053dup (p.Glu685fs) rs767858333
NM_001291415.2(KDM6A):c.2989-2A>G rs2045232957
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly) rs138958917
NM_001303.4(COX10):c.851_855dup (p.Trp286fs)
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe) rs2131816806
NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro) rs372529179
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His) rs2538945227
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg) rs1554476282
NM_001317778.2(SFTPC):c.435G>A (p.Gln145=) rs2538945951
NM_001317778.2(SFTPC):c.476_477del (p.Glu159fs) rs2538948503
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_001320.7(CSNK2B):c.367+3_367+5delinsAAA
NM_001320.7(CSNK2B):c.73-2A>G rs1554169967
NM_001323289.2(CDKL5):c.538C>T (p.Pro180Ser) rs2518853590
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_001323289.2(CDKL5):c.689T>A (p.Leu230His) rs1925702601
NM_001323289.2(CDKL5):c.745-2A>G rs2518864113
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001330260.2(SCN8A):c.1228G>A (p.Val410Met) rs879255699
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2921C>G (p.Ala974Gly) rs1942877839
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4754G>A (p.Trp1585Ter) rs1555229543
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_001332.4(CTNND2):c.121del (p.Asp41fs) rs2477383479
NM_001332.4(CTNND2):c.1629-2A>G rs1554008611
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp) rs1064796406
NM_001347721.2(DYRK1A):c.821T>G (p.Ile274Ser) rs2518028387
NM_001348716.2(KDM6B):c.138-1G>A rs2078522740
NM_001348716.2(KDM6B):c.3737G>A (p.Arg1246His) rs760199993
NM_001348768.2(HECW2):c.3583G>C (p.Ala1195Pro) rs1553635778
NM_001348768.2(HECW2):c.3989G>A (p.Arg1330Gln) rs1553633403
NM_001348768.2(HECW2):c.4485G>T (p.Arg1495Ser) rs774316240
NM_001348768.2(HECW2):c.4514G>C (p.Ser1505Thr) rs1687461276
NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys) rs1553629086
NM_001348800.3(ZBTB20):c.1739G>T (p.Cys580Phe) rs2550499377
NM_001348800.3(ZBTB20):c.1768A>G (p.Lys590Glu)
NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val) rs1064795382
NM_001348800.3(ZBTB20):c.1885A>G (p.Thr629Ala) rs1553789264
NM_001349338.3(FOXP1):c.1538T>C (p.Val513Ala) rs1553663140
NM_001349798.2(FBXW7):c.1433C>T (p.Ser478Phe) rs2126497487
NM_001352027.3(PHF21A):c.1995del (p.Ser666fs) rs1554969688
NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys) rs1876922399
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) rs2050115619
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His) rs2519728924
NM_001354712.2(THRB):c.1345G>T (p.Glu449Ter) rs1553609157
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.962A>G (p.Tyr321Cys) rs1559401356
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1415A>C (p.His472Pro) rs2063923221
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg) rs2063923221
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001356.5(DDX3X):c.1538T>C (p.Val513Ala) rs1569240261
NM_001356.5(DDX3X):c.1839del (p.Phe613fs) rs2063940433
NM_001356.5(DDX3X):c.1859dup (p.Ser620fs) rs2063941013
NM_001356.5(DDX3X):c.1864del (p.Arg622fs)
NM_001356.5(DDX3X):c.536_543+5inv
NM_001356.5(DDX3X):c.878C>T (p.Ser293Phe) rs2519515024
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) rs137852329
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363118.2(SLC52A2):c.1201_1202delinsC (p.Gly401fs) rs2537251153
NM_001365902.3(NFIX):c.28-16G>A rs2013212122
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln) rs2145192570
NM_001367561.1(DOCK7):c.3936G>A (p.Thr1312=) rs1553163123
NM_001367624.2(ZNF469):c.9915del (p.Arg3306fs)
NM_001367943.1(TCF7L2):c.1161+1G>A
NM_001368809.2(AMPD2):c.1070A>G (p.Asn357Ser) rs869312928
NM_001368809.2(AMPD2):c.971G>C (p.Arg324Pro) rs746332433
NM_001369.3(DNAH5):c.57_57+1delinsAA rs1560984816
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7610-2A>G rs2546801557
NM_001369.3(DNAH5):c.8010+1G>A rs2546745461
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro) rs1182948401
NM_001369268.1(ACAN):c.6127G>T (p.Glu2043Ter) rs267604368
NM_001370100.5(ZMYND11):c.438+5G>C rs2539525839
NM_001370100.5(ZMYND11):c.697+2T>A
NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro) rs1114167480
NM_001370259.2(MEN1):c.1051T>A (p.Tyr351Asn) rs2497161656
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln) rs1114167474
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) rs1555166695
NM_001370259.2(MEN1):c.1102G>A (p.Ala368Thr) rs1114167473
NM_001370259.2(MEN1):c.1102G>C (p.Ala368Pro) rs1114167473
NM_001370259.2(MEN1):c.1127T>C (p.Leu376Pro) rs1114167471
NM_001370259.2(MEN1):c.112T>C (p.Ser38Pro) rs1341908127
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser) rs1942013583
NM_001370259.2(MEN1):c.124G>C (p.Gly42Arg) rs1942013583
NM_001370259.2(MEN1):c.1258A>T (p.Ile420Phe) rs1114167526
NM_001370259.2(MEN1):c.1259T>G (p.Ile420Ser) rs1114167539
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) rs1555164270
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg) rs1555164245
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1295T>C (p.Leu432Pro) rs2136100876
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.1355G>T (p.Arg452Leu) rs775922507
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro) rs1592660057
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) rs1592631908
NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu) rs1114167517
NM_001370259.2(MEN1):c.1682T>G (p.Met561Arg) rs1941501393
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del) rs1555163115
NM_001370259.2(MEN1):c.1710del (p.Asn571fs) rs2497104394
NM_001370259.2(MEN1):c.1725del (p.Lys576fs) rs1555163124
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) rs794728634
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del) rs2497271153
NM_001370259.2(MEN1):c.311C>A (p.Ser104Tyr) rs1114167512
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg) rs794728614
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg) rs1262285748
NM_001370259.2(MEN1):c.424T>C (p.Ser142Pro)
NM_001370259.2(MEN1):c.431T>G (p.Phe144Cys) rs2136178004
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) rs794728617
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_001370259.2(MEN1):c.515A>T (p.Asp172Val) rs794728618
NM_001370259.2(MEN1):c.530T>G (p.Leu177Arg) rs2136154828
NM_001370259.2(MEN1):c.541C>G (p.His181Asp) rs2136154163
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.586G>T (p.Val196Phe) rs2136151708
NM_001370259.2(MEN1):c.597C>A (p.His199Gln) rs150512958
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu) rs1114167518
NM_001370259.2(MEN1):c.654G>T (p.Arg218=) rs2136148225
NM_001370259.2(MEN1):c.658T>C (p.Trp220Arg) rs1085307971
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro) rs2136143369
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg) rs1057521110
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_001370259.2(MEN1):c.751A>C (p.Thr251Pro)
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro) rs2136139920
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro) rs1114167502
NM_001370259.2(MEN1):c.824+1G>C rs1060499976
NM_001370259.2(MEN1):c.825-1G>A rs1114167505
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg) rs1592646765
NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg) rs1114167493
NM_001370259.2(MEN1):c.851C>T (p.Ala284Val) rs1565645563
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211
NM_001370259.2(MEN1):c.913-1G>A rs1057518572
NM_001370259.2(MEN1):c.913-2A>C
NM_001370259.2(MEN1):c.913-2A>G rs1114167498
NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro) rs1064793169
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.950A>G (p.His317Arg) rs1114167495
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg) rs2136194414
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr) rs2136194342
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371596.2(MFSD8):c.554-2A>T rs1560747815
NM_001371596.2(MFSD8):c.63-2A>G rs757857101
NM_001371596.2(MFSD8):c.699-1G>C rs1739594685
NM_001371596.2(MFSD8):c.754+1G>T rs868732642
NM_001371727.1(GABRB2):c.238G>C (p.Asp80His) rs2480000325
NM_001371727.1(GABRB2):c.626A>C (p.Gln209Pro) rs1554094278
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter) rs755144803
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter) rs761704440
NM_001371904.1(APOA5):c.494dup (p.Val166fs) rs764366547
NM_001371904.1(APOA5):c.795del (p.Thr266fs) rs1341621315
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs) rs774150500
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs) rs1569116595
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs) rs2083362624
NM_001372066.1(TFAP2A):c.1156C>T (p.His386Tyr) rs2532348599
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln) rs151344530
NM_001372066.1(TFAP2A):c.771-2_771-1del rs2532358471
NM_001374353.1(GLI2):c.3452_3453del (p.Gln1151fs) rs2467778285
NM_001374353.1(GLI2):c.3638del (p.Ala1213fs) rs1553479405
NM_001374736.1(DST):c.17680+1G>A rs2534813697
NM_001374828.1(ARID1B):c.1290_1320del (p.Ala431fs) rs1554247989
NM_001374828.1(ARID1B):c.4479+5G>A rs2128366768
NM_001374828.1(ARID1B):c.6377del (p.Lys2126fs) rs2128396622
NM_001374828.1(ARID1B):c.6599C>A (p.Ser2200Ter) rs1554237979
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001375380.1(EBF3):c.386G>C (p.Arg129Pro) rs1859577030
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.490T>G (p.Cys164Gly) rs1859111016
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu) rs1852552180
NM_001375380.1(EBF3):c.983T>A (p.Leu328His) rs2493980818
NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter) rs1560667389
NM_001376.5(DYNC1H1):c.10051A>T (p.Ile3351Phe) rs1567018763
NM_001376.5(DYNC1H1):c.11083C>T (p.Arg3695Trp) rs2503843400
NM_001376.5(DYNC1H1):c.4366G>A (p.Glu1456Lys) rs2503730449
NM_001376.5(DYNC1H1):c.5645C>A (p.Thr1882Asn) rs2503742080
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.6268C>T (p.Leu2090Phe) rs2503751910
NM_001376.5(DYNC1H1):c.6989G>A (p.Gly2330Glu) rs1555410010
NM_001378183.1(PIEZO2):c.4163T>C (p.Leu1388Pro) rs1555638058
NM_001378183.1(PIEZO2):c.4167+1G>C rs1555638052
NM_001378452.1(ITPR1):c.1699T>C (p.Tyr567His) rs1553681758
NM_001378452.1(ITPR1):c.1813C>T (p.Leu605Phe) rs1064796252
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)
NM_001378452.1(ITPR1):c.731A>C (p.His244Pro) rs1085308010
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.11547+1G>T rs1553418638
NM_001378454.1(ALMS1):c.12114+1G>A rs376719320
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter) rs2465969801
NM_001378454.1(ALMS1):c.451-2A>G rs2466035962
NM_001378615.1(CC2D2A):c.4497-2A>G rs1553845569
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe) rs1763619016
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379610.1(SPINK1):c.162del (p.Asn56fs) rs2480198981
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.55+1G>A rs1561606446
NM_001382241.1(TNPO2):c.466G>T (p.Asp156Tyr) rs2145582779
NM_001385012.1(NBEA):c.526+3A>G rs2502187066
NM_001386298.1(CIC):c.6764A>G (p.Asp2255Gly) rs2514069098
NM_001386298.1(CIC):c.6767+2T>C rs1555773152
NM_001386393.1(PANK2):c.651+1G>C rs1390184629
NM_001393504.1(MAST3):c.1556A>G (p.Asp519Gly)
NM_001393504.1(MAST3):c.1738G>C (p.Val580Leu) rs2513193892
NM_001394998.1(TANC2):c.5233C>T (p.Gln1745Ter) rs866345446
NM_001394998.1(TANC2):c.5738_5742del (p.Thr1913fs) rs2510609298
NM_001399.5(EDA):c.502_502+19del rs2520242932
NM_001429.4(EP300):c.3502-2A>G rs2059089321
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.5857C>T (p.Gln1953Ter)
NM_001429.4(EP300):c.6608dup (p.Gly2204fs) rs2059215587
NM_001429.4(EP300):c.6986dup (p.Arg2330fs) rs2059219404
NM_001429.4(EP300):c.7097del (p.Ser2366fs) rs2059220495
NM_001458.5(FLNC):c.1210+1G>A
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1677-1G>C rs2536627048
NM_001458.5(FLNC):c.2550+1G>C rs1474115309
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2811+1G>A rs2128936028
NM_001458.5(FLNC):c.2930-1G>A rs2536635253
NM_001458.5(FLNC):c.4457-1G>T rs1404524040
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.7385-2A>G
NM_001478.5(B4GALNT1):c.384-1G>A rs775080333
NM_001492.6(GDF1):c.787_814del (p.Pro263fs) rs1417119878
NM_001493.3(GDI1):c.819+1G>A rs1557198821
NM_001613.4(ACTA2):c.1102G>A (p.Gly368Arg) rs1845711244
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser) rs756496192
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys) rs886038852
NM_001613.4(ACTA2):c.767G>A (p.Arg256His) rs766734961
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys) rs781953399
NM_001658.4(ARF1):c.208G>A (p.Gly70Ser)
NM_001673.5(ASNS):c.1320+1G>C rs1791277284
NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg) rs1553709380
NM_001690.4(ATP6V1A):c.967A>G (p.Arg323Gly) rs1709072898
NM_001693.4(ATP6V1B2):c.488G>A (p.Arg163Gln)
NM_001693.4(ATP6V1B2):c.628G>C (p.Ala210Pro)
NM_001709.5(BDNF):c.502G>T (p.Glu168Ter) rs1554931219
NM_001754.5(RUNX1):c.805+1G>T rs2146074371
NM_001829.4(CLCN3):c.1358G>T (p.Ser453Ile) rs1732611964
NM_001830.4(CLCN4):c.1634G>A (p.Gly545Asp) rs1555977164
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) rs1064796023
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val) rs1555167847
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1790G>A (p.Gly597Glu) rs2540144667
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) rs1555165501
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu) rs2540113244
NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4]) rs1555165335
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) rs1555165336
NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg) rs1879015838
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.2546G>A (p.Gly849Glu) rs2501780336
NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu) rs1555303010
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu) rs1555302454
NM_001845.6(COL4A1):c.3743-1G>A rs2501757966
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001846.4(COL4A2):c.2840G>A (p.Gly947Asp) rs2502163697
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
NM_001854.4(COL11A1):c.3978+5G>A rs759455459
NM_001876.4(CPT1A):c.1184G>C (p.Arg395Pro) rs768667071
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.2071_2072delinsG (p.Asn691fs) rs2470850103
NM_001927.4(DES):c.1202A>G (p.Glu401Gly) rs1954444202
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001943.5(DSG2):c.2001+1G>T rs2510920042
NM_001943.5(DSG2):c.216+1G>T rs1316380114
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter) rs765347389
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001958.5(EEF1A2):c.1084G>T (p.Asp362Tyr) rs2082366618
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001967.4(EIF4A2):c.1012G>T (p.Asp338Tyr)
NM_001970.5(EIF5A):c.165+1G>A rs2508657357
NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) rs786205155
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_001987.5(ETV6):c.464-2A>G
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) rs1750917259
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3593G>C (p.Cys1198Ser)
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3724+1G>A rs2479803228
NM_001999.4(FBN2):c.3724+2T>G rs863223570
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly) rs1554122857
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe) rs2126888942
NM_001999.4(FBN2):c.4346-2A>C rs587776518
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.6638-2A>C rs886039200
NM_002024.6(FMR1):c.271-1G>A
NM_002024.6(FMR1):c.797G>A (p.Gly266Glu) rs1569545763
NM_002025.4(AFF2):c.1210+1G>A rs2070619300
NM_002025.4(AFF2):c.3203+1G>A rs2072188268
NM_002047.4(GARS1):c.1810-2A>T rs2534335823
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) rs1135401746
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002087.4(GRN):c.708+6_708+9del rs778599933
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile) rs1657901999
NM_002107.7(H3-3A):c.244G>C (p.Asp82His) rs1657903750
NM_002107.7(H3-3A):c.25C>G (p.Arg9Gly) rs2102735477
NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser) rs1658118461
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg) rs1576203003
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002249.6(KCNN3):c.1349T>C (p.Val450Ala) rs2524731280
NM_002292.4(LAMB2):c.4923+1G>T rs2045286663
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002317.7(LOX):c.139C>T (p.Gln47Ter) rs2532918093
NM_002317.7(LOX):c.295_299dup (p.Ala101fs) rs2532917277
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_002336.3(LRP6):c.3207-2A>G rs2498744424
NM_002340.6(LSS):c.1565-2del rs2517204124
NM_002356.7(MARCKS):c.616_632del (p.Glu206fs) rs1554191995
NM_002382.5(MAX):c.171+1G>A
NM_002382.5(MAX):c.171+2T>A rs786203009
NM_002382.5(MAX):c.171+2T>G
NM_002382.5(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002382.5(MAX):c.220A>G (p.Met74Val) rs2139754684
NM_002382.5(MAX):c.296-1G>A rs1555340265
NM_002382.5(MAX):c.305T>C (p.Leu102Pro) rs2504176263
NM_002382.5(MAX):c.348del (p.Ser117fs) rs2504175252
NM_002382.5(MAX):c.73C>T (p.Arg25Trp) rs2139886995
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser) rs1554139870
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr) rs1351260483
NM_002439.5(MSH3):c.1341-1G>A
NM_002439.5(MSH3):c.1341-7_1342delinsTCATTC rs2546752943
NM_002439.5(MSH3):c.14del (p.Lys5fs) rs1749186228
NM_002439.5(MSH3):c.1568+1G>C rs1580589463
NM_002439.5(MSH3):c.1654-1G>C rs779700173
NM_002439.5(MSH3):c.1764-2A>C rs773032453
NM_002439.5(MSH3):c.1896+1G>A rs1330593620
NM_002439.5(MSH3):c.1896+2T>C rs1580027713
NM_002439.5(MSH3):c.1897-1G>A rs1744149615
NM_002439.5(MSH3):c.2084+1G>A rs2112884587
NM_002439.5(MSH3):c.2084+1G>C rs2112884587
NM_002439.5(MSH3):c.2253+3_2253+7del rs1488467945
NM_002439.5(MSH3):c.2254-1G>A rs2112890103
NM_002439.5(MSH3):c.2254-1G>C rs2112890103
NM_002439.5(MSH3):c.2318+5del rs779491624
NM_002439.5(MSH3):c.2319-2A>G rs1197719947
NM_002439.5(MSH3):c.237+1G>A rs1196929384
NM_002439.5(MSH3):c.238-1G>A rs1749285930
NM_002439.5(MSH3):c.2435+2T>C rs1580045730
NM_002439.5(MSH3):c.2647_2655+13delinsTATTTATTATTTGG
NM_002439.5(MSH3):c.2654_2655+13delinsTATTTGG rs2546786853
NM_002439.5(MSH3):c.2655+1G>A rs1580053768
NM_002439.5(MSH3):c.2813+1G>A rs2112054627
NM_002439.5(MSH3):c.2814-95_2871del rs2478770815
NM_002439.5(MSH3):c.2957_2990delinsTAAGTGCTCATCAGATACTTACATCAGATACTTA (p.Gly986_Phe997delinsValSerAlaHisGlnIleLeuThrSerAspThrTyr) rs1745879944
NM_002439.5(MSH3):c.2988_3000+893del rs1580091639
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_002439.5(MSH3):c.3131-2A>G rs2478804768
NM_002439.5(MSH3):c.358+1G>A rs2112801912
NM_002439.5(MSH3):c.358+1del
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter) rs944680882
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_002439.5(MSH3):c.57del (p.Arg20fs) rs2546709883
NM_002470.4(MYH3):c.3269A>C (p.Gln1090Pro) rs1555525941
NM_002470.4(MYH3):c.706A>C (p.Thr236Pro) rs1555527172
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_002485.4:c.113_114insALU
NM_002485.5(NBN):c.1124+1G>C rs1057517209
NM_002485.5(NBN):c.115C>T (p.Gln39Ter) rs377730553
NM_002485.5(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.5(NBN):c.1574A>G (p.Asp525Gly) rs1455928001
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+2T>G rs2488368219
NM_002485.5(NBN):c.172-1_176del rs2488361727
NM_002485.5(NBN):c.172-2A>G rs2129916685
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+1G>C rs2129695663
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2184+1G>A rs756363734
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2185-1G>T rs1057517262
NM_002485.5(NBN):c.2226_2234+4del rs1563497529
NM_002485.5(NBN):c.2234+1G>T rs1586024147
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer) rs2488163496
NM_002485.5(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.321-1G>T
NM_002485.5(NBN):c.321-2A>G rs587777931
NM_002485.5(NBN):c.35_37+10del rs781710700
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.480+2T>G rs2488355261
NM_002485.5(NBN):c.481-1G>A rs2488344564
NM_002485.5(NBN):c.481-2A>G rs751567476
NM_002485.5(NBN):c.48_49del (p.Tyr16_Arg17delinsTer) rs2488369879
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.584+1G>A rs1811862598
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.702+1G>C rs1057517104
NM_002485.5(NBN):c.702+2del rs2488315047
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002485.5(NBN):c.897-30_921delinsATATAATATATTATCATACTTAAACTATTTTATTCTAATAG
NM_002485.5(NBN):c.93del (p.Cys31fs) rs2488369262
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+1del rs2488283819
NM_002485.5(NBN):c.994+2T>C rs1586075690
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>C rs876659521
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.9del (p.Lys3fs) rs2488380221
NM_002490.6(NDUFA6):c.281_284del (p.Ile94fs) rs768463498
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002528.7(NTHL1):c.115+1G>T
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs) rs2548331971
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.545dup (p.Gln183fs) rs2548315238
NM_002528.7(NTHL1):c.60dup (p.Pro21fs) rs2548331710
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.789dup (p.Arg264Ter) rs2084241184
NM_002528.7(NTHL1):c.792-1G>A rs2150937988
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
NM_002528.7(NTHL1):c.79G>T (p.Glu27Ter)
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter) rs2084236498
NM_002529.4(NTRK1):c.1773T>A (p.Tyr591Ter)
NM_002529.4(NTRK1):c.2231del (p.Arg744fs) rs2525667554
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg) rs1026300967
NM_002547.3(OPHN1):c.1362-2A>G rs1569215808
NM_002576.5(PAK1):c.1261C>T (p.Arg421Trp) rs972319037
NM_002578.5(PAK3):c.276+5G>A rs1569398792
NM_002585.4(PBX1):c.760T>C (p.Ser254Pro) rs1669419321
NM_002585.4(PBX1):c.863G>A (p.Arg288Gln) rs2102345680
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) rs797044887
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002655.3(PLAG1):c.645T>A (p.Cys215Ter)
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002693.3(POLG):c.2336T>C (p.Leu779Pro)
NM_002693.3(POLG):c.3104+1G>T rs138917386
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002709.3(PPP1CB):c.755A>G (p.Asp252Gly) rs2465753864
NM_002715.4(PPP2CA):c.811A>G (p.Asn271Asp) rs2481046871
NM_002734.5(PRKAR1A):c.177+1G>T rs1555811753
NM_002734.5(PRKAR1A):c.3G>A (p.Met1Ile) rs2509357138
NM_002734.5(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.5(PRKAR1A):c.891+3A>G rs281864799
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs) rs2509443639
NM_002734.5(PRKAR1A):c.973+1G>C rs2509443931
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs) rs2509446205
NM_002742.3(PRKD1):c.1841T>C (p.Ile614Thr)
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn) rs1554881272
NM_002804.5(PSMC3):c.929T>C (p.Met310Thr) rs2496050991
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002878.4(RAD51D):c.134_144+15del rs2509185002
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter) rs771077929
NM_002878.4(RAD51D):c.144+1G>T rs2142477107
NM_002878.4(RAD51D):c.144+1dup rs2142477116
NM_002878.4(RAD51D):c.211_263+3141del
NM_002878.4(RAD51D):c.264-2A>C rs1555568514
NM_002878.4(RAD51D):c.264-2A>G rs1555568514
NM_002878.4(RAD51D):c.2T>A (p.Met1Lys) rs1064794619
NM_002878.4(RAD51D):c.2T>C (p.Met1Thr) rs1064794619
NM_002878.4(RAD51D):c.2del (p.Met1fs) rs2509189531
NM_002878.4(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.4(RAD51D):c.346-1G>C rs1555568386
NM_002878.4(RAD51D):c.486_532del (p.Glu162fs) rs1597861744
NM_002878.4(RAD51D):c.54del (p.Gln18fs) rs2509188899
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.5del (p.Gly2fs) rs2509189482
NM_002878.4(RAD51D):c.608delinsGA (p.Val203fs) rs1597858862
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.4(RAD51D):c.641dup (p.Leu215fs) rs1409088398
NM_002878.4(RAD51D):c.667+1G>T rs1597858666
NM_002878.4(RAD51D):c.668-2A>C rs1567726325
NM_002878.4(RAD51D):c.668-3C>A rs2142418884
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs) rs2142418516
NM_002878.4(RAD51D):c.738+1G>A rs1567726124
NM_002878.4(RAD51D):c.738+1G>T rs1567726124
NM_002878.4(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.4(RAD51D):c.739-2A>T rs1597856297
NM_002878.4(RAD51D):c.752del (p.Ile251fs) rs1597856236
NM_002878.4(RAD51D):c.757del (p.Arg253fs)
NM_002878.4(RAD51D):c.774dup (p.Arg259fs) rs1555567170
NM_002878.4(RAD51D):c.801del (p.Trp268fs) rs2142411904
NM_002878.4(RAD51D):c.808_857del (p.Phe270fs) rs2509124515
NM_002878.4(RAD51D):c.82+1G>A rs786202788
NM_002878.4(RAD51D):c.82+2T>G rs1597878498
NM_002878.4(RAD51D):c.879del (p.Cys294fs) rs2091532104
NM_002878.4(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.4(RAD51D):c.904-2A>C rs1403784434
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) rs730881002
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1837C>A (p.Leu613Ile) rs80338797
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.4(RAF1):c.782C>A (p.Pro261His) rs397516828
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002890.3(RASA1):c.1454-11_1454-7del rs60835976
NM_002890.3(RASA1):c.2011+1G>C rs2531342144
NM_002890.3(RASA1):c.2925+1dup rs1762098966
NM_002971.6(SATB1):c.1259A>G (p.Gln420Arg) rs1291314034
NM_003000.2:c.251_252insALU
NM_003000.2:c.256_257insALU
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro) rs2078100395
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.194T>A (p.Leu65His) rs876659329
NM_003000.3(SDHB):c.200+3G>C rs876659330
NM_003000.3(SDHB):c.200+5G>C rs1553178726
NM_003000.3(SDHB):c.201-1G>C rs2101529138
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.221A>T (p.Asp74Val) rs876658713
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu) rs1131691051
NM_003000.3(SDHB):c.278G>T (p.Cys93Phe) rs1131691054
NM_003000.3(SDHB):c.286+2T>C
NM_003000.3(SDHB):c.287-3C>G rs1553177772
NM_003000.3(SDHB):c.287G>T (p.Gly96Val) rs778952116
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe) rs121917755
NM_003000.3(SDHB):c.331C>G (p.Leu111Val) rs2078005090
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro) rs1570948631
NM_003000.3(SDHB):c.352G>T (p.Asp118Tyr) rs200021702
NM_003000.3(SDHB):c.386C>G (p.Pro129Arg) rs587781735
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.419T>A (p.Val140Asp) rs2525020268
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro) rs1210181271
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys) rs2077978220
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg) rs2525008725
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu) rs2101516291
NM_003000.3(SDHB):c.634C>G (p.Leu212Val) rs1228560456
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642G>T (p.Gln214His) rs1278834014
NM_003000.3(SDHB):c.643-1G>A rs1553177292
NM_003000.3(SDHB):c.650G>C (p.Arg217Pro)
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys) rs916516745
NM_003000.3(SDHB):c.65_72+16del rs2525082757
NM_003000.3(SDHB):c.688C>G (p.Arg230Gly) rs138996609
NM_003000.3(SDHB):c.701T>C (p.Leu234Pro)
NM_003000.3(SDHB):c.728G>T (p.Cys243Phe) rs1570944788
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>G rs1474282888
NM_003000.3(SDHB):c.73-8A>G rs2525060252
NM_003000.3(SDHB):c.746G>T (p.Cys249Phe) rs1064794269
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg) rs948484408
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu) rs948484408
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.789del (p.Ile263fs) rs2077946198
NM_003000.3(SDHB):c.801del (p.Lys268_Met269insTer) rs2524994983
NM_003000.3(SDHB):c.806del (p.Met269fs) rs2524994962
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser) rs1553262444
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys) rs2102271857
NM_003001.5(SDHC):c.223G>C (p.Gly75Arg) rs867966048
NM_003001.5(SDHC):c.241+1G>A rs748440817
NM_003001.5(SDHC):c.241+1G>T rs748440817
NM_003001.5(SDHC):c.242-2A>G rs2102370188
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp) rs202044160
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr) rs1571899020
NM_003001.5(SDHC):c.452_455delinsATGA (p.Ser151_Gly152delinsTyrGlu) rs2526572703
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu) rs1060501386
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg) rs1571899223
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.170-2A>G rs2498904353
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr) rs755047928
NM_003002.4(SDHD):c.209G>T (p.Arg70Met) rs755047928
NM_003002.4(SDHD):c.213_215del (p.Val72del) rs1555186992
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg) rs1592780479
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.278_280dup (p.Tyr93dup) rs121908983
NM_003002.4(SDHD):c.314+4A>T
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp) rs1555187574
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.320T>C (p.Leu107Pro) rs876658477
NM_003002.4(SDHD):c.326_327del (p.Gln109fs) rs1592786159
NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn) rs876659276
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del) rs2498917639
NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val) rs1555187635
NM_003002.4(SDHD):c.53-7_53-3del rs1865650219
NM_003042.4(SLC6A1):c.1013TCT[1] (p.Phe339del)
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003042.4(SLC6A1):c.684_689del (p.Cys228_Ile229del) rs2470210780
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003047.5(SLC9A1):c.1351A>C (p.Ile451Leu) rs1553175089
NM_003054.6(SLC18A2):c.895G>C (p.Gly299Arg) rs1293033867
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.2326T>C (p.Tyr776His) rs1554623111
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu) rs1554623885
NM_003072.5(SMARCA4):c.102_114dup (p.Ala39fs) rs913673846
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1702_1761+3del rs2514299000
NM_003072.5(SMARCA4):c.1944-1G>C rs2146107905
NM_003072.5(SMARCA4):c.222+1G>T rs1199819249
NM_003072.5(SMARCA4):c.2275-1G>C rs2146276502
NM_003072.5(SMARCA4):c.2438+1G>A rs1555774786
NM_003072.5(SMARCA4):c.2438+1G>C rs1555774786
NM_003072.5(SMARCA4):c.2438+1G>T rs1555774786
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met) rs2089620653
NM_003072.5(SMARCA4):c.2616+1G>A
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2681C>T (p.Thr894Met) rs2089893983
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2859+1G>C rs797044856
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.355+1G>A rs2145753179
NM_003072.5(SMARCA4):c.355+2T>G rs1599942345
NM_003072.5(SMARCA4):c.3774+2T>A rs1475054297
NM_003072.5(SMARCA4):c.3951+2T>C rs1555785056
NM_003072.5(SMARCA4):c.3952-1G>A rs1600405252
NM_003072.5(SMARCA4):c.4816C>T (p.Gln1606Ter)
NM_003072.5(SMARCA4):c.761-5T>G rs543702763
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His) rs2517652605
NM_003073.5(SMARCB1):c.903_986+35del rs2517724673
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del) rs1601433521
NM_003073.5(SMARCB1):c.986+1G>A rs112038099
NM_003073.5(SMARCB1):c.986+2T>G rs2030331202
NM_003079.5(SMARCE1):c.227A>G (p.Tyr76Cys) rs1555605893
NM_003079.5(SMARCE1):c.238-2A>G rs2508604717
NM_003079.5(SMARCE1):c.816+1del rs2508597255
NM_003079.5(SMARCE1):c.922del (p.Ala308fs)
NM_003079.5(SMARCE1):c.959del (p.Pro320fs) rs2508595907
NM_003106.4(SOX2):c.334C>G (p.Pro112Ala) rs1553862987
NM_003108.4(SOX11):c.262A>G (p.Lys88Glu) rs2465087461
NM_003108.4(SOX11):c.352T>C (p.Tyr118His) rs2465087545
NM_003114.5(SPAG1):c.301-2A>G rs2489308738
NM_003136.4(SRP54):c.331G>A (p.Gly111Arg) rs2044272867
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) rs1836579970
NM_003183.6(ADAM17):c.230+1G>A rs1665281440
NM_003193.5(TBCE):c.1491_1491+4dup rs746593718
NM_003238.6(TGFB2):c.104del (p.Lys35fs)
NM_003238.6(TGFB2):c.1101T>G (p.Tyr367Ter) rs2464889778
NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe) rs1553303745
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1124C>A (p.Ser375Ter)
NM_003239.5(TGFB3):c.1188dup (p.Lys397fs) rs2504093549
NM_003239.5(TGFB3):c.310G>T (p.Glu104Ter) rs2503023443
NM_003239.5(TGFB3):c.517-1G>T
NM_003239.5(TGFB3):c.646+1G>C
NM_003239.5(TGFB3):c.884dup (p.Gln296fs) rs1060502826
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg) rs1553630221
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) rs863223845
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr) rs2125437095
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1511G>A (p.Trp504Ter) rs2125452229
NM_003242.6(TGFBR2):c.1524+2T>C rs113786762
NM_003242.6(TGFBR2):c.1538T>C (p.Val513Ala)
NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr) rs2125455285
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile) rs1699708963
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter) rs2125455394
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174
NM_003289.4(TPM2):c.26A>C (p.Gln9Pro) rs1554659746
NM_003319.4(TTN):c.12525dup (p.Asn4176Ter) rs876657673
NM_003319.4(TTN):c.22101_22120del (p.Val7368fs) rs727504825
NM_003319.4(TTN):c.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.69998_70007del10 rs2468894140
NM_003319.4(TTN):c.80003_80028+4del rs1553479603
NM_003319.4:c.42742_42743insALU
NM_003319.4:c.42743_42744insALU
NM_003319.4:c.58067_58068insALU
NM_003336.4(UBE2A):c.1A>G (p.Met1Val) rs1556235119
NM_003336.4(UBE2A):c.2T>G (p.Met1Arg) rs1556235129
NM_003403.5(YY1):c.1015A>C (p.Lys339Gln) rs1555370868
NM_003412.4(ZIC1):c.1101C>A (p.Cys367Ter) rs777958545
NM_003412.4(ZIC1):c.1130T>C (p.Leu377Pro) rs2087391194
NM_003413.4(ZIC3):c.1177_1178del (p.Cys393fs) rs2521155029
NM_003470.3(USP7):c.10C>T (p.Gln4Ter)
NM_003470.3(USP7):c.46C>T (p.Gln16Ter)
NM_003470.3(USP7):c.611+1G>A rs2549246727
NM_003476.5(CSRP3):c.414+1G>T rs935867046
NM_003477.3(PDHX):c.1305dup (p.Gln436fs) rs2494783688
NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys) rs1555184684
NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr) rs1555195158
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter) rs1555198910
NM_003542.4(H4C3):c.136C>A (p.Arg46Ser) rs2481656285
NM_003545.4(H4C5):c.110G>C (p.Arg37Pro) rs753083420
NM_003545.4(H4C5):c.295T>C (p.Tyr99His) rs2480785483
NM_003545.4(H4C5):c.98C>T (p.Pro33Leu) rs2480784697
NM_003560.4(PLA2G6):c.1427+1G>C rs750939090
NM_003579.4(RAD54L):c.1033G>T (p.Gly345Cys) rs797044888
NM_003611.3(OFD1):c.929T>C (p.Phe310Ser) rs797044917
NM_003620.4(PPM1D):c.1205del (p.Asn402fs)
NM_003620.4(PPM1D):c.1226_1227del (p.Met409fs) rs1555648564
NM_003620.4(PPM1D):c.1254dup (p.Val419fs) rs2031449441
NM_003620.4(PPM1D):c.1262C>G (p.Ser421Ter) rs2031551111
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003673.4(TCAP):c.110_110+1dup rs786205076
NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp) rs1367958450
NM_003676.4(DEGS1):c.752dup (p.Leu251fs) rs1402209451
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003722.5(TP63):c.500C>T (p.Ser167Phe) rs1553845515
NM_003839.4(TNFRSF11A):c.3G>T (p.Met1Ile)
NM_003850.3(SUCLA2):c.272-2A>G rs565456094
NM_003883.4(HDAC3):c.893A>G (p.Tyr298Cys) rs1554216308
NM_003883.4(HDAC3):c.902G>A (p.Arg301Gln) rs1554216303
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003901.4(SGPL1):c.146G>A (p.Trp49Ter)
NM_003906.5(MCM3AP):c.2628+1G>A rs2517401007
NM_003924.4(PHOX2B):c.208dup (p.Leu70fs) rs2552097163
NM_003924.4(PHOX2B):c.295C>T (p.Arg99Trp) rs1577560349
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu) rs104893855
NM_003924.4(PHOX2B):c.429+1G>A rs2552097008
NM_003924.4(PHOX2B):c.429+1G>T rs2552097008
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter) rs775101470
NM_003924.4(PHOX2B):c.774_776GGC[3]AGCGGCAGCGGAGGC[1] (p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla) rs2552096798
NM_003977.4(AIP):c.1A>G (p.Met1Val)
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003995.4(NPR2):c.668-1G>C rs1554672061
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.3(DMD):c.1483-1534_1565del
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.5586+1G>T
NM_004006.3(DMD):c.9974+1G>A
NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser) rs2512310700
NM_004046.6(ATP5F1A):c.327G>C (p.Leu109Phe)
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter) rs2136355372
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) rs1602996815
NM_004100.5(EYA4):c.1839+1G>A rs768710868
NM_004115.4(FGF14):c.409-1245_464del
NM_004168.4(SDHA):c.1001_1064+5dup rs2477349889
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1065-1G>C
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) rs768055345
NM_004168.4(SDHA):c.1261-1G>A rs1735779936
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser) rs1553999752
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.151-2A>G rs1579381374
NM_004168.4(SDHA):c.1552-2591A>G rs1736606187
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1794+1dup
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1832del (p.Gln611fs) rs1554002451
NM_004168.4(SDHA):c.1836del (p.Gln613fs)
NM_004168.4(SDHA):c.1848del (p.Lys616fs) rs2477476665
NM_004168.4(SDHA):c.1879del (p.Leu627fs) rs2477476930
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
NM_004168.4(SDHA):c.313-1G>A rs2477293926
NM_004168.4(SDHA):c.313-2A>C rs2477293918
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.456+3_456+4delinsCT rs1734966566
NM_004168.4(SDHA):c.457-3delinsTAAGCTAGAAATTTCATA
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys) rs1579385645
NM_004168.4(SDHA):c.622-2A>T rs1242620940
NM_004168.4(SDHA):c.63+1G>A rs2126522851
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>G rs762456298
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.770+1G>C
NM_004168.4(SDHA):c.770+2T>A rs2477317908
NM_004168.4(SDHA):c.771-1G>C rs1735353141
NM_004168.4(SDHA):c.895+1G>A
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) rs1337704280
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1499C>T (p.Pro500Leu) rs1569273900
NM_004187.5(KDM5C):c.1637A>T (p.Glu546Val) rs1014338528
NM_004187.5(KDM5C):c.2092G>A (p.Glu698Lys) rs1057517955
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2632G>T (p.Glu878Ter)
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004247.4(EFTUD2):c.105+2T>G rs2051339634
NM_004247.4(EFTUD2):c.2306G>A (p.Gly769Asp) rs2050507811
NM_004247.4(EFTUD2):c.702+1G>T rs1085307457
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter) rs2494023702
NM_004281.4(BAG3):c.1326del (p.Phe442fs)
NM_004281.4(BAG3):c.1440_1450del (p.Arg480fs) rs2494024121
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) rs2134068635
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys) rs1554891077
NM_004329.3(BMPR1A):c.1036C>G (p.His346Asp) rs2539621087
NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg) rs587782536
NM_004329.3(BMPR1A):c.1166+731A>G rs2539628994
NM_004329.3(BMPR1A):c.1167-1G>A rs1589292553
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1409T>G (p.Met470Arg) rs199476089
NM_004329.3(BMPR1A):c.1438C>G (p.Arg480Gly) rs876658515
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.1473+1G>T rs1589293533
NM_004329.3(BMPR1A):c.1474-1G>A
NM_004329.3(BMPR1A):c.1474-2A>G rs587781407
NM_004329.3(BMPR1A):c.1492A>T (p.Lys498Ter)
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe) rs1554888310
NM_004329.3(BMPR1A):c.24_31del (p.Arg9fs) rs2539350478
NM_004329.3(BMPR1A):c.295G>C (p.Gly99Arg) rs2539446223
NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr) rs2133408741
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.430G>C (p.Gly144Arg) rs876658573
NM_004329.3(BMPR1A):c.431-3C>G rs876659613
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004329.3(BMPR1A):c.676-1G>C rs1554890734
NM_004329.3(BMPR1A):c.676-4_676-1dup rs2539602354
NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.3(BMPR1A):c.869-9A>G rs2133588734
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004360.5(CDH1):c.1008+2T>C rs1060501237
NM_004360.5(CDH1):c.1009-1G>C rs1597894632
NM_004360.5(CDH1):c.1137+2T>C rs786202817
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1565+1del rs1064795267
NM_004360.5(CDH1):c.1565+5G>A rs786201861
NM_004360.5(CDH1):c.1566-2A>G rs1555516520
NM_004360.5(CDH1):c.163+1G>T
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg) rs786202712
NM_004360.5(CDH1):c.1711+1G>C rs886041161
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_004360.5(CDH1):c.1936+2T>C rs2152138633
NM_004360.5(CDH1):c.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.2164+1G>T rs1961238458
NM_004360.5(CDH1):c.2165-1G>A rs1385720097
NM_004360.5(CDH1):c.2165-2A>G rs1596970624
NM_004360.5(CDH1):c.2196G>C (p.Arg732=) rs2152141412
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.5(CDH1):c.2273A>G (p.Glu758Gly) rs2152141559
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004360.5(CDH1):c.2295+1G>A rs1596971108
NM_004360.5(CDH1):c.2295+1G>C rs1596971108
NM_004360.5(CDH1):c.2295G>A (p.Gln765=) rs1961383748
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter) rs376922615
NM_004360.5(CDH1):c.2436del (p.Asp812fs) rs2543957595
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter) rs1596976243
NM_004360.5(CDH1):c.2490dup (p.Leu831fs) rs1131690822
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.48G>C (p.Gln16His) rs749591910
NM_004360.5(CDH1):c.49-1G>A rs2152114329
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.635G>T (p.Gly212Val) rs1555515276
NM_004360.5(CDH1):c.687+2T>C rs1555515297
NM_004360.5(CDH1):c.831A>G (p.Pro277=) rs1131690816
NM_004360.5(CDH1):c.832+3A>G rs1555515469
NM_004360.5(CDH1):c.832G>A (p.Gly278Arg) rs943875725
NM_004360.5(CDH1):c.833-9C>G rs878854698
NM_004360.5(CDH1):c.944A>G (p.Asn315Ser) rs1960840611
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu) rs1554168326
NM_004380.3(CREBBP):c.3882C>G (p.Cys1294Trp) rs1278147369
NM_004380.3(CREBBP):c.4493G>A (p.Arg1498Gln) rs1567269945
NM_004380.3(CREBBP):c.5159G>A (p.Cys1720Tyr) rs2051906316
NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg) rs1057524802
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004387.4(NKX2-5):c.646del (p.Arg216fs) rs2480072423
NM_004397.6(DDX6):c.1156C>T (p.Arg386Cys) rs782274778
NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp) rs1554781552
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004415.2:c.3564_3565insALU
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.250_273+1del rs2533842462
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.7346del (p.Lys2449fs) rs2533945316
NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs) rs2533945755
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7780dup (p.Ser2594fs) rs397514045
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004453.4(ETFDH):c.485_487+14delinsT rs796051963
NM_004456.5(EZH2):c.406G>C (p.Asp136His) rs1554499814
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) rs137853266
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) rs1557189252
NM_004463.3(FGD1):c.1906C>T (p.Arg636Trp) rs759075971
NM_004463.3(FGD1):c.2015+1G>A rs2522698895
NM_004463.3(FGD1):c.2020GAG[2] (p.Glu676del) rs2522693820
NM_004484.4(GPC3):c.1166+1G>A rs2521160162
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004541.4(NDUFA1):c.127T>C (p.Tyr43His) rs797044914
NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile) rs2509726477
NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter) rs759473851
NM_004586.3(RPS6KA3):c.2076_2079del (p.Gln693fs) rs2519572888
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004595.5(SMS):c.638C>A (p.Pro213Gln) rs1556001138
NM_004606.5(TAF1):c.2182dup (p.Thr728fs) rs2520253559
NM_004612.4(TGFBR1):c.1052A>G (p.Asp351Gly)
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr) rs2118805827
NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg) rs1827743139
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.563G>T (p.Gly188Val) rs1554699638
NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val) rs1564161224
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile) rs2490192138
NM_004612.4(TGFBR1):c.80_97+14del
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu) rs2490236024
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) rs121434395
NM_004655.4(AXIN2):c.1059+1G>C rs2544196005
NM_004655.4(AXIN2):c.1712+1G>T rs1357170855
NM_004655.4(AXIN2):c.1713-1G>A rs1309148182
NM_004655.4(AXIN2):c.2205_2206dup (p.Pro736fs) rs2509396878
NM_004655.4(AXIN2):c.2309del (p.Phe770fs) rs1299440644
NM_004656.4(BAP1):c.1117-1G>A rs2153226890
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.123-10_129del
NM_004656.4(BAP1):c.1251-1G>A rs1578221396
NM_004656.4(BAP1):c.1251-2A>G rs2153226773
NM_004656.4(BAP1):c.1315G>T (p.Val439Leu) rs1559587112
NM_004656.4(BAP1):c.133G>A (p.Gly45Arg) rs1553646045
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val) rs1553644806
NM_004656.4(BAP1):c.1730-2A>G rs2153226523
NM_004656.4(BAP1):c.1A>T (p.Met1Leu) rs2153228694
NM_004656.4(BAP1):c.2015A>G (p.Asp672Gly) rs2153226205
NM_004656.4(BAP1):c.2056+1G>A rs1578218644
NM_004656.4(BAP1):c.2056+1G>C rs1578218644
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.209C>A (p.Ser70Tyr) rs1705236699
NM_004656.4(BAP1):c.2188T>C (p.Ter730Arg) rs1704980243
NM_004656.4(BAP1):c.249_255+15delinsAGACC rs2471356841
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) rs375129361
NM_004656.4(BAP1):c.281A>G (p.His94Arg) rs1553645950
NM_004656.4(BAP1):c.306C>G (p.Asn102Lys) rs1705221702
NM_004656.4(BAP1):c.31G>C (p.Asp11His) rs1578231322
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004656.4(BAP1):c.375+1G>A rs775451516
NM_004656.4(BAP1):c.375G>C (p.Glu125Asp)
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.3G>C (p.Met1Ile) rs2153228693
NM_004656.4(BAP1):c.421C>T (p.His141Tyr) rs2471351500
NM_004656.4(BAP1):c.437+1G>T rs1553645838
NM_004656.4(BAP1):c.507C>G (p.His169Gln) rs2153227827
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004656.4(BAP1):c.539T>C (p.Leu180Pro)
NM_004656.4(BAP1):c.553G>A (p.Gly185Arg) rs2153227788
NM_004656.4(BAP1):c.580+1G>T rs1553645785
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.59_67+1del rs2471365846
NM_004656.4(BAP1):c.604T>C (p.Trp202Arg) rs2153227653
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys) rs868339867
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys) rs868339867
NM_004656.4(BAP1):c.659+1G>T rs2153227622
NM_004656.4(BAP1):c.659+1del rs1064795667
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004656.4(BAP1):c.67+1G>T
NM_004656.4(BAP1):c.68-1G>A
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC rs1064792988
NM_004656.4(BAP1):c.745_783+57delinsTGG rs2471342655
NM_004656.4(BAP1):c.931+1G>A
NM_004656.4(BAP1):c.932-10C>G rs1705115631
NM_004699.4(FAM50A):c.760G>A (p.Glu254Lys) rs2523043957
NM_004859.4(CLTC):c.2080_2094del (p.Ser694_Leu698del) rs2509384754
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val) rs1555605688
NM_004859.4(CLTC):c.4606-1G>A rs2509158550
NM_004859.4(CLTC):c.4862_4866del (p.Lys1621fs) rs2509165121
NM_004859.4(CLTC):c.4904-1G>A rs781677731
NM_004958.4(MTOR):c.4250T>C (p.Ile1417Thr)
NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser) rs797044931
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr) rs2101396495
NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys) rs2524620795
NM_004974.4(KCNA2):c.869T>G (p.Leu290Arg) rs1085307768
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe) rs1984252463
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) rs886039396
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) rs1555889114
NM_004985.5(KRAS):c.350A>C (p.Lys117Thr) rs2141506236
NM_005045.4(RELN):c.812G>T (p.Gly271Val) rs1554404338
NM_005097.4(LGI1):c.504-1G>T rs1564851314
NM_005097.4(LGI1):c.673+2T>C rs2492904557
NM_005120.3(MED12):c.1300del (p.Ala434fs) rs1556334793
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3542A>G (p.Lys1181Arg) rs2519691466
NM_005120.3(MED12):c.3887G>A (p.Cys1296Tyr) rs2519694809
NM_005120.3(MED12):c.3927C>A (p.Asp1309Glu) rs2519694918
NM_005120.3(MED12):c.4622G>A (p.Gly1541Glu)
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005121.3(MED13):c.3278G>T (p.Cys1093Phe) rs2509277010
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu) rs2496939296
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr) rs1949904868
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) rs1688718864
NM_005220.3(DLX3):c.534G>C (p.Gln178His) rs2144182867
NM_005235.3(ERBB4):c.119_120del (p.Leu39_Ser40insTer) rs1553563398
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.705CAA[1] (p.Asn236del) rs2502226343
NM_005249.5(FOXG1):c.749G>A (p.Gly250Asp) rs1881807337
NM_005251.3(FOXC2):c.988C>T (p.Gln330Ter)
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.151G>T (p.Asp51Tyr) rs864309703
NM_005276.4(GPD1):c.866_867del (p.Lys289fs) rs746781699
NM_005321.3(H1-4):c.368_369insT (p.Gly124fs) rs1764189332
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005321.3(H1-4):c.414dup (p.Lys139fs) rs1581429403
NM_005321.3(H1-4):c.427_430dup (p.Ala144fs) rs1131690805
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) rs1057519739
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) rs377767346
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del) rs377767349
NM_005359.6(SMAD4):c.1138A>G (p.Arg380Gly) rs1568208291
NM_005359.6(SMAD4):c.1308+1G>T rs587781618
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
NM_005359.6(SMAD4):c.1448-1G>A rs1910517904
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del) rs1910518741
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.1529G>T (p.Gly510Val) rs377767371
NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter) rs2144478869
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp) rs1568211604
NM_005359.6(SMAD4):c.210A>G (p.Lys70=) rs2144401714
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.6(SMAD4):c.424+1G>T rs377767386
NM_005359.6(SMAD4):c.787+2T>C rs1909895611
NM_005359.6(SMAD4):c.905-1G>A rs1555686070
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005360.5(MAF):c.170C>T (p.Ser57Phe) rs1555530080
NM_005378.6(MYCN):c.1037dup (p.Gln347fs) rs1662848905
NM_005431.2(XRCC2):c.109dup (p.Ser37fs) rs1213272601
NM_005431.2(XRCC2):c.122-1G>T rs201836415
NM_005431.2(XRCC2):c.166_167del (p.Glu56fs) rs2485882087
NM_005431.2(XRCC2):c.175del (p.Tyr59fs) rs2098027525
NM_005431.2(XRCC2):c.240_243del (p.Phe80fs) rs2485881817
NM_005431.2(XRCC2):c.26_27del (p.Glu9fs) rs2485915620
NM_005431.2(XRCC2):c.2T>C (p.Met1Thr) rs1064793295
NM_005431.2(XRCC2):c.350del (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.377T>A (p.Leu126Ter) rs1064794088
NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter) rs1064794088
NM_005431.2(XRCC2):c.395C>A (p.Ser132Ter) rs2485881405
NM_005431.2(XRCC2):c.488dup (p.Glu164fs) rs2485881210
NM_005431.2(XRCC2):c.490_491del (p.Glu164fs) rs1590129487
NM_005431.2(XRCC2):c.539T>G (p.Leu180Ter) rs1064793297
NM_005431.2(XRCC2):c.545del (p.Lys182fs) rs587780129
NM_005431.2(XRCC2):c.609del (p.Ser204fs) rs2485880908
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005445.4(SMC3):c.1655T>A (p.Val552Asp) rs2493127561
NM_005445.4(SMC3):c.3439C>G (p.Gln1147Glu) rs1861409519
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg) rs748876063
NM_005450.6(NOG):c.615G>A (p.Trp205Ter) rs104894615
NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln) rs1827283362
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) rs387907006
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005499.3(UBA2):c.1A>G (p.Met1Val) rs2075210211
NM_005499.3(UBA2):c.52_58del (p.Gly18fs) rs1555725969
NM_005502.4(ABCA1):c.6007G>A (p.Gly2003Arg)
NM_005502.4(ABCA1):c.6242G>A (p.Arg2081Gln)
NM_005543.4(INSL3):c.148dup (p.Arg50fs) rs1187807999
NM_005559.4(LAMA1):c.7870T>C (p.Tyr2624His) rs797044940
NM_005585.5(SMAD6):c.840dup (p.Arg281fs) rs2545322709
NM_005585.5(SMAD6):c.950C>G (p.Ser317Ter) rs1333161839
NM_005591.3:c.1280_1281insALU
NM_005591.3:c.14_15insALU
NM_005591.4(MRE11):c.1018-1G>A rs1555012083
NM_005591.4(MRE11):c.1098+2T>C rs876659343
NM_005591.4(MRE11):c.1225+1G>A rs876658665
NM_005591.4(MRE11):c.1225+2T>C rs145058858
NM_005591.4(MRE11):c.1225_1225+1delinsCA rs2134999194
NM_005591.4(MRE11):c.1226-2A>C rs1555009945
NM_005591.4(MRE11):c.1327-1G>C rs1591672744
NM_005591.4(MRE11):c.1327-2A>G rs878854776
NM_005591.4(MRE11):c.154-1G>A rs1555017290
NM_005591.4(MRE11):c.1564-1G>A rs2496297949
NM_005591.4(MRE11):c.1783+1G>A rs2496292658
NM_005591.4(MRE11):c.1784-2A>G rs201572020
NM_005591.4(MRE11):c.1868-2A>C rs1555002450
NM_005591.4(MRE11):c.1926+2T>C rs1555002390
NM_005591.4(MRE11):c.1926+2_1926+5del rs1555002387
NM_005591.4(MRE11):c.1927-1G>T rs1295485913
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_005591.4(MRE11):c.1994+1G>C rs2496208006
NM_005591.4(MRE11):c.1995-2A>G rs1591634006
NM_005591.4(MRE11):c.20dup (p.Asp8Ter)
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005591.4(MRE11):c.314+2T>C rs1591718826
NM_005591.4(MRE11):c.3G>T (p.Met1Ile) rs1555018818
NM_005591.4(MRE11):c.402+2_402+3delinsGGG rs1555015413
NM_005591.4(MRE11):c.402G>C (p.Gly134=) rs587782669
NM_005591.4(MRE11):c.403-2A>G rs2135086294
NM_005591.4(MRE11):c.403-2A>T rs2135086294
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter) rs2496653723
NM_005591.4(MRE11):c.56del (p.Thr19fs) rs2496653611
NM_005591.4(MRE11):c.660-1G>A rs876658917
NM_005591.4(MRE11):c.845+2T>A rs587781381
NM_005591.4(MRE11):c.846-1G>T rs2496485739
NM_005591.4(MRE11):c.846-2A>C rs1591693112
NM_005612.5(REST):c.2515G>T (p.Glu839Ter) rs1553904378
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn) rs1555226395
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) rs1131691826
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr) rs1057522318
NM_005654.6(NR2F1):c.404G>A (p.Arg135His) rs2480802411
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) rs1554074684
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup) rs1753264180
NM_005732.3:c.2291_2292insALU
NM_005732.4(RAD50):c.129+1G>A rs1339714611
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter) rs2479573777
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.1969+1G>A rs587782078
NM_005732.4(RAD50):c.1970-2A>G rs876660728
NM_005732.4(RAD50):c.1A>G (p.Met1Val) rs876658212
NM_005732.4(RAD50):c.2524+1G>T rs1581001575
NM_005732.4(RAD50):c.2525-1G>T rs1015686770
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC rs1580985027
NM_005732.4(RAD50):c.2718+1_2718+5del rs876659158
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+1G>C rs786203805
NM_005732.4(RAD50):c.3164+2T>C rs2479384572
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.3389+1G>C rs762648843
NM_005732.4(RAD50):c.3390-1G>A rs2479424634
NM_005732.4(RAD50):c.3475+1G>A rs1443728958
NM_005732.4(RAD50):c.3476-10_3480del rs587782866
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005732.4(RAD50):c.3618+1G>A rs587781925
NM_005732.4(RAD50):c.3619-2A>G rs2149865515
NM_005732.4(RAD50):c.365+2T>G rs2479608557
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.3722_3725dup (p.Glu1243fs)
NM_005732.4(RAD50):c.3722_3745delinsGCGTA (p.Asn1241fs) rs2479435369
NM_005732.4(RAD50):c.3753-1G>A rs1554101314
NM_005732.4(RAD50):c.551+2T>A rs1580987375
NM_005732.4(RAD50):c.551+2T>C rs1580987375
NM_005732.4(RAD50):c.552-1G>T rs1236278956
NM_005732.4(RAD50):c.756+2T>G rs764122619
NM_005732.4(RAD50):c.756_756+2delinsTG rs1554097840
NM_005732.4(RAD50):c.886-1G>C rs1580992079
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191
NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter) rs1553153365
NM_005850.5(SF3B4):c.164-1G>A rs797044869
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) rs793888531
NM_005859.5(PURA):c.458G>C (p.Arg153Pro) rs886039610
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup) rs1763047232
NM_005859.5(PURA):c.506G>A (p.Arg169His) rs1554129099
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) rs1064795165
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.734G>A (p.Arg245Gln)
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) rs747285235
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter) rs2505311128
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
NM_005902.4(SMAD3):c.1179del (p.Cys394fs)
NM_005902.4(SMAD3):c.1179dup (p.Cys394fs) rs1595965945
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) rs863223750
NM_005902.4(SMAD3):c.872-2_881del rs2505299719
NM_005918.4(MDH2):c.556-1G>C rs2535869499
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005996.4(TBX3):c.370G>T (p.Val124Phe) rs927204453
NM_005996.4(TBX3):c.418T>C (p.Cys140Arg) rs1868908326
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) rs1555162303
NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile) rs1555162301
NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val) rs2498863473
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln) rs1942184922
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.781C>G (p.Pro261Ala) rs2498860323
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg) rs1942169309
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006015.6(ARID1A):c.5976_5981dup (p.Phe1993_Val1994dup) rs2081174999
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006015.6(ARID1A):c.854dup (p.Thr286fs) rs2525562224
NM_006015.6(ARID1A):c.971del (p.Gly324fs) rs1336228861
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr) rs1914081211
NM_006087.4(TUBB4A):c.293G>A (p.Gly98Asp) rs1555754185
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006096.4(NDRG1):c.205+1G>C rs1060503092
NM_006097.5(MYL9):c.184+2_184+10del rs1569529545
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006179.5(NTF4):c.521A>G (p.Gln174Arg) rs797044939
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006180.6(NTRK2):c.2149G>A (p.Val717Met) rs2132979269
NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter) rs797044899
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006236.3(POU3F3):c.1032del (p.Leu345fs) rs1676571583
NM_006236.3(POU3F3):c.1197del (p.Ile400fs) rs1553426479
NM_006236.3(POU3F3):c.1234_1244del (p.Ser412fs) rs1676574259
NM_006236.3(POU3F3):c.125del (p.Gly42fs) rs1303053833
NM_006236.3(POU3F3):c.1367A>G (p.Asn456Ser) rs1573321115
NM_006236.3(POU3F3):c.992_1006del (p.Gln331_Lys335del) rs1553426462
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs) rs1253927514
NM_006265.3(RAD21):c.1816C>T (p.Gln606Ter)
NM_006265.3(RAD21):c.1847C>T (p.Pro616Leu)
NM_006268.5(DPF2):c.1033T>G (p.Cys345Gly) rs1854614432
NM_006268.5(DPF2):c.1049G>A (p.Arg350His) rs1555032051
NM_006270.5(RRAS):c.107GCG[5] (p.Gly39dup) rs749539343
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His) rs2520927651
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3578T>G (p.Phe1193Cys) rs869312954
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?) rs77179853
NM_006397.3(RNASEH2A):c.590A>G (p.Glu197Gly) rs1555734800
NM_006445.4(PRPF8):c.4310G>A (p.Arg1437His) rs2543734076
NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg) rs1597230180
NM_006445.4(PRPF8):c.5495G>A (p.Arg1832His) rs2543726821
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.881C>T (p.Ser294Phe) rs1557645723
NM_006565.4(CTCF):c.1169A>T (p.Asp390Val) rs2543470728
NM_006565.4(CTCF):c.1277_1291del (p.Ile426_His430del) rs2543472599
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006579.3(EBP):c.301+3G>C rs2147154777
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.638T>A (p.Leu213His) rs2468090945
NM_006593.4(TBR1):c.732_734delinsGGTCTGGTTTTAACATT (p.Asp245delinsValTrpPheTer) rs2468091705
NM_006618.5(KDM5B):c.1822-1G>A rs1655690067
NM_006648.4(WNK2):c.4801dup (p.Asp1601fs) rs757473977
NM_006662.3(SRCAP):c.2630+1G>A
NM_006662.3(SRCAP):c.7275_7279del (p.Pro2427fs) rs2506726518
NM_006662.3(SRCAP):c.848_856+17del
NM_006734.4(HIVEP2):c.5461C>A (p.His1821Asn) rs1554275655
NM_006734.4(HIVEP2):c.6516+1G>C rs1775173231
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_006765.4(TUSC3):c.938-8_939del rs2486222306
NM_006766.5(KAT6A):c.3040-1G>T rs1821915703
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) rs786200956
NM_006767.4(LZTR1):c.1149+20T>G rs2518618231
NM_006767.4(LZTR1):c.1150-1G>T rs2518618734
NM_006767.4(LZTR1):c.1260+1G>T rs143868364
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=) rs1168913250
NM_006767.4(LZTR1):c.1353+1G>T rs1170363408
NM_006767.4(LZTR1):c.1394C>A (p.Ala465Glu) rs753757778
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu) rs587777180
NM_006767.4(LZTR1):c.1449+1G>C rs758122659
NM_006767.4(LZTR1):c.1449+1G>T rs758122659
NM_006767.4(LZTR1):c.1449+2T>C rs1036772752
NM_006767.4(LZTR1):c.1449+2T>G rs1036772752
NM_006767.4(LZTR1):c.1449G>C (p.Gln483His) rs1203145822
NM_006767.4(LZTR1):c.1615+1G>A rs1381717741
NM_006767.4(LZTR1):c.1615+2T>G
NM_006767.4(LZTR1):c.1616-1G>A rs777908919
NM_006767.4(LZTR1):c.1616-1G>C rs777908919
NM_006767.4(LZTR1):c.1616-2A>C rs1328046881
NM_006767.4(LZTR1):c.1616-2A>G rs1328046881
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC rs2518621615
NM_006767.4(LZTR1):c.1785+2T>C rs1448380294
NM_006767.4(LZTR1):c.1785+2T>G rs1448380294
NM_006767.4(LZTR1):c.1786-1_1786dup rs1924769528
NM_006767.4(LZTR1):c.1942+1G>A rs765095992
NM_006767.4(LZTR1):c.1942+1G>C rs765095992
NM_006767.4(LZTR1):c.1942+1G>T rs765095992
NM_006767.4(LZTR1):c.1942+2T>C rs752489470
NM_006767.4(LZTR1):c.1943-1G>T rs1189015572
NM_006767.4(LZTR1):c.1943-276G>A rs1273220768
NM_006767.4(LZTR1):c.1943-320G>C rs766845746
NM_006767.4(LZTR1):c.200+1G>C rs1216738448
NM_006767.4(LZTR1):c.200+1G>T rs1216738448
NM_006767.4(LZTR1):c.200+1dup rs1239699760
NM_006767.4(LZTR1):c.200+2T>A rs573971763
NM_006767.4(LZTR1):c.200+2T>C rs573971763
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro) rs1338433423
NM_006767.4(LZTR1):c.2070-1G>A rs748538968
NM_006767.4(LZTR1):c.2070-2A>G rs774954465
NM_006767.4(LZTR1):c.2220-2A>C rs2518625597
NM_006767.4(LZTR1):c.2325+1G>C rs1263566071
NM_006767.4(LZTR1):c.2325+2T>C rs1252629169
NM_006767.4(LZTR1):c.2326-1G>A rs1290087666
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.2353_2360delinsTG (p.Ala785_Asp787delinsCys) rs2518626034
NM_006767.4(LZTR1):c.2406+1G>C rs770322736
NM_006767.4(LZTR1):c.2406+2T>C rs1188461028
NM_006767.4(LZTR1):c.2462_2463del (p.Ile821fs) rs770771182
NM_006767.4(LZTR1):c.263+1del rs1924258572
NM_006767.4(LZTR1):c.263+5G>A rs771241129
NM_006767.4(LZTR1):c.263G>A (p.Gly88Glu) rs1051725799
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val) rs1051725799
NM_006767.4(LZTR1):c.264-2A>C rs1601715859
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.315_320+11del
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.320+5del rs1924365049
NM_006767.4(LZTR1):c.321-1G>A rs532811225
NM_006767.4(LZTR1):c.321-1G>C
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val) rs1215353050
NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp) rs587777177
NM_006767.4(LZTR1):c.372C>G (p.Val124=) rs371891909
NM_006767.4(LZTR1):c.384C>T (p.Ser128=) rs756817158
NM_006767.4(LZTR1):c.400+1G>A rs1555927561
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.400+2T>C
NM_006767.4(LZTR1):c.400+5G>A rs1924441805
NM_006767.4(LZTR1):c.400+5G>T
NM_006767.4(LZTR1):c.401-1G>C rs747225246
NM_006767.4(LZTR1):c.401-2A>C rs1222197005
NM_006767.4(LZTR1):c.401-2del rs2518613174
NM_006767.4(LZTR1):c.509+3G>C rs1924464151
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu) rs781431741
NM_006767.4(LZTR1):c.50_51del (p.Ala17fs) rs2518607691
NM_006767.4(LZTR1):c.510-2A>G rs1458682620
NM_006767.4(LZTR1):c.510-6C>G rs2518614015
NM_006767.4(LZTR1):c.565A>T (p.Ile189Phe) rs1924497432
NM_006767.4(LZTR1):c.574G>A (p.Gly192Ser) rs2518614178
NM_006767.4(LZTR1):c.577T>C (p.Tyr193His) rs2147962725
NM_006767.4(LZTR1):c.594-3C>G rs373968693
NM_006767.4(LZTR1):c.651+1G>A rs1450044732
NM_006767.4(LZTR1):c.651+1G>C
NM_006767.4(LZTR1):c.651+2T>A rs1310952470
NM_006767.4(LZTR1):c.651+3G>C
NM_006767.4(LZTR1):c.651+4del
NM_006767.4(LZTR1):c.651+5G>C
NM_006767.4(LZTR1):c.651G>A (p.Glu217=) rs2518614988
NM_006767.4(LZTR1):c.652-1G>A rs1280449769
NM_006767.4(LZTR1):c.652-2A>C rs746294125
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.791+1G>T rs148031742
NM_006767.4(LZTR1):c.792-1G>A rs761185148
NM_006767.4(LZTR1):c.792-2A>G rs1449274241
NM_006767.4(LZTR1):c.993+1G>C
NM_006767.4(LZTR1):c.994-1G>A rs758238174
NM_006767.4(LZTR1):c.994-1G>T rs758238174
NM_006767.4(LZTR1):c.994-2A>G rs752600682
NM_006772.3(SYNGAP1):c.1386+1G>A rs2537394579
NM_006772.3(SYNGAP1):c.1387-8G>A rs1409847091
NM_006772.3(SYNGAP1):c.1513T>G (p.Tyr505Asp) rs2537398099
NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg) rs1554121365
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu) rs1554121685
NM_006772.3(SYNGAP1):c.3794+2T>C rs1395368098
NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr) rs1554122763
NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr) rs2151168637
NM_006885.4(ZFHX3):c.6850C>T (p.Arg2284Ter) rs869312913
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.259G>A (p.Asp87Asn) rs886041414
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006914.4(RORB):c.1249_1251del (p.Thr417del) rs869312972
NM_006914.4(RORB):c.161T>C (p.Ile54Thr) rs2489566873
NM_006914.4(RORB):c.197G>A (p.Arg66Gln) rs756765022
NM_006914.4(RORB):c.3G>A (p.Met1Ile)
NM_006914.4(RORB):c.949A>G (p.Thr317Ala)
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006924.5(SRSF1):c.552+1G>T
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly) rs1344304906
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro) rs2135418994
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) rs1556860638
NM_007118.4(TRIO):c.179_183del (p.Met60fs) rs1795936426
NM_007118.4(TRIO):c.2391+1G>A rs2532619002
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_007118.4(TRIO):c.7960A>T (p.Lys2654Ter) rs1756936101
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_007129.5(ZIC2):c.1497_1507dup (p.Gly503fs) rs2501551952
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) rs1567941256
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup
NM_007194.3:c.966_967insSVA
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1095+2dup rs2517819927
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1096-3_1098del rs876659838
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1375+1G>C rs759706360
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1375+1del rs2517794678
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1376-21_1382del rs2517788605
NM_007194.4(CHEK2):c.1376-2A>C rs2145786737
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1408_1461+209del rs2517784498
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+2T>A
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1462-10_1472del rs2517758511
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1476del (p.Arg493fs) rs2473021300
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs) rs2517757596
NM_007194.4(CHEK2):c.1501G>T (p.Glu501Ter) rs17883172
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1543-11_1543-2del rs2145739661
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) rs876658646
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+1del rs2518125985
NM_007194.4(CHEK2):c.320-10_375del rs2518059974
NM_007194.4(CHEK2):c.320-1801_592+317dup
NM_007194.4(CHEK2):c.320-1843_592+340dup
NM_007194.4(CHEK2):c.320-1G>C rs864622613
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-2048_593-1211dup
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly) rs1404473412
NM_007194.4(CHEK2):c.444+1G>C rs121908698
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>A rs560596101
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-1G>C rs587782830
NM_007194.4(CHEK2):c.445-1G>T
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.592+1G>C rs1601822722
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.592+2T>G rs1601822717
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile) rs1555926708
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>A rs781021132
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.684-1G>T rs1298667185
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.684-3_684-2del rs2517964935
NM_007194.4(CHEK2):c.684-430A>T rs2517969730
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+1G>C rs1555921011
NM_007194.4(CHEK2):c.792+2T>G rs545982789
NM_007194.4(CHEK2):c.792+5G>A rs876658514
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+1_846+2del rs2517942094
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.883G>A (p.Glu295Lys) rs1345979642
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+1_908+13delinsTTTAAAA rs2517884392
NM_007194.4(CHEK2):c.908+1_908+8delinsTT rs1569127917
NM_007194.4(CHEK2):c.908+2T>G rs1601752066
NM_007194.4(CHEK2):c.908+3A>T rs1601752050
NM_007194.4(CHEK2):c.908+5G>A rs1064796016
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.937-2A>G rs1568660279
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter) rs2526289681
NM_007272.3(CTRC):c.2T>C (p.Met1Thr) rs1455019932
NM_007272.3(CTRC):c.494-1G>A rs766917452
NM_007272.3(CTRC):c.627dup (p.Ser210fs) rs1708190814
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.3(BRCA1):c.5408delG rs2546718821
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
NM_007294.3:c.1569_1570insSVA rs2552201804
NM_007294.3:c.2301_2302insALU
NM_007294.3:c.2692_2693insALU
NM_007294.3:c.3122_3123insALU
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser) rs1064793357
NM_007294.4(BRCA1):c.101C>G (p.Pro34Arg) rs786203319
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu) rs786203319
NM_007294.4(BRCA1):c.121C>A (p.His41Asn) rs1060502353
NM_007294.4(BRCA1):c.129_134+2del
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.4(BRCA1):c.134+1G>T rs80358043
NM_007294.4(BRCA1):c.134+3_134+6del rs397508858
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.191G>C (p.Cys64Ser) rs55851803
NM_007294.4(BRCA1):c.208_212+22del rs1555597152
NM_007294.4(BRCA1):c.211A>T (p.Arg71Trp) rs80357382
NM_007294.4(BRCA1):c.212+1del rs786203526
NM_007294.4(BRCA1):c.212+2T>C rs80358026
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.212_212+1delinsTGA
NM_007294.4(BRCA1):c.213-7A>G rs2054700180
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe) rs1060502343
NM_007294.4(BRCA1):c.284T>C (p.Leu95Pro) rs2054675041
NM_007294.4(BRCA1):c.286G>C (p.Asp96His) rs80357110
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.302-1G>C rs80358116
NM_007294.4(BRCA1):c.302-1G>T rs80358116
NM_007294.4(BRCA1):c.302-2A>C rs80358011
NM_007294.4(BRCA1):c.302-2A>G rs80358011
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly) rs80357017
NM_007294.4(BRCA1):c.4097-1G>A rs80358070
NM_007294.4(BRCA1):c.4097-20_4134del rs2053440925
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.441+1G>A rs397509172
NM_007294.4(BRCA1):c.441+1G>C rs397509172
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.441+2T>C rs397509173
NM_007294.4(BRCA1):c.441+2T>G rs397509173
NM_007294.4(BRCA1):c.442-18_442-4del rs587782663
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.4676-1G>C rs80358008
NM_007294.4(BRCA1):c.4676-2A>G rs80358096
NM_007294.4(BRCA1):c.4955_4956delinsAA (p.Met1652Lys) rs1597830347
NM_007294.4(BRCA1):c.4958T>A (p.Val1653Glu) rs2052363535
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro) rs1597830263
NM_007294.4(BRCA1):c.4986+3G>T rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4987-2A>C rs397509212
NM_007294.4(BRCA1):c.4987-2A>G rs397509212
NM_007294.4(BRCA1):c.4987-3C>A rs397509213
NM_007294.4(BRCA1):c.4987-5T>A rs397509214
NM_007294.4(BRCA1):c.4987-6T>A rs2052193063
NM_007294.4(BRCA1):c.4987-7A>G rs1025136518
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) rs1567772408
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5050A>C (p.Thr1684Pro) rs879255491
NM_007294.4(BRCA1):c.5054_5074+3del rs2550169186
NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp) rs1555579648
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5066T>A (p.Met1689Lys) rs80357061
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074+3A>T rs80358181
NM_007294.4(BRCA1):c.5075-1G>T rs1800747
NM_007294.4(BRCA1):c.5075-2A>C rs80358066
NM_007294.4(BRCA1):c.5075-8T>G rs397509221
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) rs397509222
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5099C>T (p.Thr1700Ile) rs2051927197
NM_007294.4(BRCA1):c.5104A>C (p.Lys1702Gln) rs2051925024
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile) rs2051924695
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5110T>A (p.Phe1704Ile) rs1555578599
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro) rs397507242
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr) rs397507243
NM_007294.4(BRCA1):c.5123C>G (p.Ala1708Gly) rs28897696
NM_007294.4(BRCA1):c.5137G>T (p.Val1713Leu) rs1064793309
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5152+4A>G rs397509232
NM_007294.4(BRCA1):c.5152+5G>T rs80358165
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA rs587781526
NM_007294.4(BRCA1):c.5153-2A>G rs786202545
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5156T>A (p.Val1719Glu) rs1247437511
NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly) rs1247437511
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5194-2A>C rs80358069
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.4(BRCA1):c.5204A>G (p.Glu1735Gly) rs2051527499
NM_007294.4(BRCA1):c.5205A>T (p.Glu1735Asp) rs431825412
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His) rs80357283
NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu) rs80357340
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5236C>T (p.His1746Tyr) rs80357146
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys) rs397507245
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr) rs80357074
NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly) rs1597810544
NM_007294.4(BRCA1):c.5258G>T (p.Arg1753Ile) rs397509246
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007294.4(BRCA1):c.5277+2T>G rs2051494815
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
NM_007294.4(BRCA1):c.5278-35_5317del rs2547516324
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val) rs80357007
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5323A>G (p.Met1775Val) rs2051198464
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5332+1del rs397509263
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5351T>A (p.Val1784Glu) rs1367077331
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs) rs80357744
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) rs1597801649
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.5366C>T (p.Ala1789Val) rs2051085308
NM_007294.4(BRCA1):c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT rs2552238579
NM_007294.4(BRCA1):c.5386del (p.Ser1796fs) rs80357838
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs) rs2477088364
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5407-1G>C rs80358029
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp) rs80357216
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5432del (p.Gln1811fs) rs2152796748
NM_007294.4(BRCA1):c.5467+5G>C rs397509287
NM_007294.4(BRCA1):c.5467G>C (p.Ala1823Pro) rs80357212
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.5468-2A>T rs398122699
NM_007294.4(BRCA1):c.5468-9T>A rs2050891633
NM_007294.4(BRCA1):c.547+2del
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs) rs397509291
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr) rs80357368
NM_007294.4(BRCA1):c.5525T>A (p.Val1842Glu) rs1555574400
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu) rs730881447
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter) rs2050864747
NM_007294.4(BRCA1):c.5558A>C (p.Tyr1853Ser) rs80357258
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro) rs2055725680
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.671-1G>C rs80358020
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007294.4(BRCA1):c.671-2A>G rs80358108
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu) rs876660096
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg) rs2054049431
NM_007294.4(BRCA1):c.79T>C (p.Cys27Arg) rs2055713838
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) rs1064793052
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) rs1064793052
NM_007294.4(BRCA1):c.81-6T>A rs80358179
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) rs80357266
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) rs1556317780
NM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del) rs2521331985
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg) rs1833614590
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys) rs1954544114
NM_012064.4(MIP):c.606+1G>A rs1220143491
NM_012064.4(MIP):c.638del (p.Gly213fs) rs398122378
NM_012199.5(AGO1):c.1354G>A (p.Ala452Thr) rs2523871196
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.595G>T (p.Gly199Cys) rs2148711383
NM_012202.5(GNG3):c.12_13dup (p.Thr5fs) rs2083577399
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter) rs775151826
NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr) rs1556967227
NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu) rs750457269
NM_012414.4(RAB3GAP2):c.2807-8A>G rs777417935
NM_012463.4(ATP6V0A2):c.2055+4A>C rs2135917390
NM_013275.6(ANKRD11):c.7388C>G (p.Pro2463Arg) rs2544218427
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013436.5(NCKAP1):c.3165_3176del (p.Lys1056_Leu1059del) rs2468538145
NM_014023.4(WDR37):c.373A>G (p.Thr125Ala) rs2131625525
NM_014208.3(DSPP):c.1918_1921del (p.Ser640fs)
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro) rs1057519947
NM_014271.4(IL1RAPL1):c.1489C>T (p.Arg497Ter) rs144365564
NM_014324.6(AMACR):c.643_644insC (p.Gly215fs)
NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro) rs1553505302
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014365.3(HSPB8):c.515dup (p.Pro173fs) rs1954727159
NM_014458.4(KLHL20):c.1219G>C (p.Gly407Arg)
NM_014489.4(PGAP2):c.732dup (p.Gln245fs) rs771218491
NM_014491.4(FOXP2):c.1526A>G (p.Tyr509Cys)
NM_014516.4(CNOT3):c.2037+3A>C rs2514263759
NM_014633.5(CTR9):c.44A>G (p.Glu15Gly) rs2539365192
NM_014633.5(CTR9):c.56T>A (p.Leu19His) rs2539366599
NM_014727.3(KMT2B):c.5221G>A (p.Gly1741Ser) rs2513346396
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr) rs1703306516
NM_014822.4(SEC24D):c.1980_1988del (p.Lys660_Asn662del) rs1726363887
NM_014845.6(FIG4):c.1389-1G>C rs2486178697
NM_014845.6(FIG4):c.1749_1750+7del rs1777296419
NM_014845.6(FIG4):c.289+2T>C rs892360041
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014855.3(AP5Z1):c.1707+1G>A rs779269348
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014905.5(GLS):c.1709G>A (p.Arg570Gln)
NM_014908.4(DOLK):c.1275del (p.Cys426fs) rs1401485925
NM_014908.4(DOLK):c.132G>A (p.Trp44Ter)
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met) rs2465839683
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp) rs1553318323
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1634C>G (p.Ser545Ter) rs869312949
NM_014946.4(SPAST):c.1823dup (p.Asn608fs) rs2465946676
NM_014974.3(DIP2C):c.4399del (p.His1467fs)
NM_014991.6(WDFY3):c.7657G>C (p.Gly2553Arg)
NM_015015.3(KDM4B):c.2303A>G (p.His768Arg) rs2039634438
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs) rs1775415071
NM_015021.3(ZNF292):c.6113_6114del (p.Val2038fs) rs2482352325
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs) rs1775494843
NM_015039.4(NMNAT2):c.403dup (p.Gln135fs) rs775499191
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) rs587776537
NM_015047.3(EMC1):c.1751C>A (p.Pro584His) rs1553252938
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3528C>A (p.Tyr1176Ter) rs2529200122
NM_015100.4(POGZ):c.3540_3543del (p.Met1180fs)
NM_015100.4(POGZ):c.3591_3592del (p.Ser1197fs) rs1653397845
NM_015100.4(POGZ):c.568+2T>C rs2529526177
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015189.3(EXOC6B):c.1801-2A>G rs1553417206
NM_015215.4(CAMTA1):c.2915-2A>G rs2523004237
NM_015259.6(ICOSLG):c.55+1G>T rs1165558487
NM_015330.6(SPECC1L):c.1324_1326del (p.Lys442del) rs2040737476
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) rs1057524103
NM_015335.5(MED13L):c.3935-2A>G rs1555244216
NM_015335.5(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.5(MED13L):c.6067+1G>A
NM_015346.4(ZFYVE26):c.195-2A>G rs2500901134
NM_015443.4(KANSL1):c.2837+1G>A rs2077054270
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.108T>G (p.Tyr36Ter) rs2485562504
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.122dup (p.Thr41_Asp42insTer)
NM_015450.3(POT1):c.124+1G>A rs1563008413
NM_015450.3(POT1):c.124+1G>C rs1563008413
NM_015450.3(POT1):c.124+2T>C rs2116629474
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.125-9831_236del
NM_015450.3(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.3(POT1):c.1369+1G>A rs761173025
NM_015450.3(POT1):c.1369+1G>T rs761173025
NM_015450.3(POT1):c.1505+1del
NM_015450.3(POT1):c.1506-1G>T rs1418539002
NM_015450.3(POT1):c.1594+1G>T rs1794702760
NM_015450.3(POT1):c.1792+1G>A rs1562972354
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.255+1G>A rs1584777699
NM_015450.3(POT1):c.255+1G>T rs1584777699
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.2dup (p.Met1fs) rs2485575173
NM_015450.3(POT1):c.33_34dup (p.Thr12fs) rs1462186598
NM_015450.3(POT1):c.347C>T (p.Pro116Leu) rs1554426966
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.360_363del (p.Lys121fs)
NM_015450.3(POT1):c.79G>C (p.Gly27Arg) rs1584791977
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.870-2A>T
NM_015450.3(POT1):c.9+1G>A rs2485575117
NM_015450.3(POT1):c.949+2T>G rs2116500720
NM_015474.4(SAMHD1):c.349-6_354del rs2515264387
NM_015557.3(CHD5):c.3370C>T (p.Pro1124Ser)
NM_015559.3(SETBP1):c.4000+2T>G rs2071410989
NM_015627.3(LDLRAP1):c.748-608G>A rs2524136302
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_015665.6(AAAS):c.123+1G>A rs2498644145
NM_015874.6(RBPJ):c.130C>G (p.Gln44Glu) rs1553878198
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met) rs2039539459
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_016032.4(ZDHHC9):c.764C>A (p.Thr255Lys) rs1927670769
NM_016156.6(MTMR2):c.1746del (p.Arg582fs) rs2496397705
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter) rs138746296
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs) rs751292488
NM_016169.4(SUFU):c.22_38del (p.Gly8fs) rs2544829884
NM_016169.4(SUFU):c.2T>A (p.Met1Lys) rs2544829669
NM_016169.4(SUFU):c.597+1G>A rs1590062006
NM_016169.4(SUFU):c.683+5G>A rs2135870931
NM_016169.4(SUFU):c.739_756+12del rs2545087054
NM_016169.4(SUFU):c.911-8C>A rs771361493
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016219.5(MAN1B1):c.620+1del rs1564278864
NM_016222.4(DDX41):c.55G>T (p.Gly19Ter) rs780643002
NM_016222.4(DDX41):c.936-1G>A
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) rs1555543296
NM_016263.4(FZR1):c.946G>C (p.Val316Leu) rs2512293384
NM_016401.4(HIKESHI):c.164A>G (p.Tyr55Cys) rs1387003933
NM_016532.4(INPP5K):c.1229_1230del (p.Phe410fs) rs2543887096
NM_016604.4(KDM3B):c.2761C>T (p.Arg921Trp) rs2480217243
NM_016729.3(FOLR1):c.639G>A (p.Trp213Ter) rs757554598
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln) rs2132424384
NM_016938.5(EFEMP2):c.1171-2_1195del rs1859863045
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) rs1553881788
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017635.5(KMT5B):c.2434C>T (p.Arg812Ter) rs1565212298
NM_017635.5(KMT5B):c.970T>G (p.Cys324Gly) rs1555027828
NM_017635.5(KMT5B):c.978-1G>T
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr) rs2122839457
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017654.4(SAMD9):c.1228T>G (p.Tyr410Asp) rs2535360971
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2958-3A>G rs2487811001
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) rs1057521077
NM_017780.4(CHD7):c.3201+1G>T rs1804103264
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017780.4(CHD7):c.4644+5G>T rs2487944279
NM_017780.4(CHD7):c.4645-1G>C rs2487945576
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017807.4(OSGEP):c.411+1G>A
NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter) rs2134892271
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu) rs1590764905
NM_017841.4(SDHAF2):c.260+1G>A rs749527870
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) rs750979204
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter) rs769577154
NM_017841.4(SDHAF2):c.410del (p.Met137fs)
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) rs1862009020
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs) rs2540110841
NM_017849.3:c.498_499insALU
NM_017849.4(TMEM127):c.119C>T (p.Ser40Phe) rs1684392721
NM_017849.4(TMEM127):c.244G>A (p.Asp82Asn)
NM_017849.4(TMEM127):c.245-2del rs2467266788
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg) rs1684398953
NM_017849.4(TMEM127):c.409+1_409+8del rs2467265981
NM_017849.4(TMEM127):c.409+1del rs2467266005
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.516del (p.Phe173fs) rs2467263792
NM_017849.4(TMEM127):c.530del (p.Phe177fs) rs1684148846
NM_017849.4(TMEM127):c.541dup (p.Ala181fs) rs2467263597
NM_017849.4(TMEM127):c.553G>A (p.Gly185Arg) rs1553436865
NM_017849.4(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.613del (p.Glu205fs) rs1684144086
NM_017849.4(TMEM127):c.98C>A (p.Ser33Ter)
NM_017909.4(RMND1):c.1003-2_1003-1insATG rs760560618
NM_017909.4(RMND1):c.1348T>C (p.Ter450Arg) rs1554340243
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) rs753775062
NM_017950.4(CCDC40):c.940-1G>C rs2037540861
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018082.6(POLR3B):c.1310C>T (p.Thr437Ile)
NM_018122.5(DARS2):c.549G>A (p.Met183Ile) rs869312930
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018194.6(HHAT):c.1A>T (p.Met1Leu) rs1340611668
NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg) rs797044948
NM_018426.3(TMEM63B):c.1738G>A (p.Gly580Ser)
NM_018486.3(HDAC8):c.1111+1G>A
NM_018486.3(HDAC8):c.467A>G (p.Asn156Ser) rs2521213669
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018668.5(VPS33B):c.1106-2A>C rs2544219791
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter) rs2529843313
NM_018699.4(PRDM5):c.243del (p.Trp81fs) rs771708843
NM_018723.4(RBFOX1):c.548G>T (p.Gly183Val) rs2509828295
NM_018941.4(CLN8):c.92G>A (p.Gly31Asp) rs1366421988
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs) rs1555393172
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019842.4(KCNQ5):c.1039G>A (p.Gly347Ser) rs1554210415
NM_019842.4(KCNQ5):c.1105C>A (p.Pro369Thr) rs1554210418
NM_019842.4(KCNQ5):c.1287C>A (p.Ser429Arg) rs2533762467
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_020297.4(ABCC9):c.632T>G (p.Leu211Arg) rs2541736804
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020338.4(ZMIZ1):c.2354+1G>A
NM_020338.4(ZMIZ1):c.3042dup (p.Glu1015fs) rs1855126420
NM_020376.4(PNPLA2):c.187+1G>C rs1554975332
NM_020435.4(GJC2):c.679T>A (p.Phe227Ile) rs1553262546
NM_020435.4(GJC2):c.83T>C (p.Leu28Pro) rs1553262430
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) rs724159990
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.70C>T (p.Arg24Ter) rs1674952089
NM_020699.4(GATAD2B):c.730-1G>T rs1674522395
NM_020738.4(KIDINS220):c.4050dup (p.Gln1351fs) rs2527424387
NM_020738.4(KIDINS220):c.4171_4175del (p.Ile1391fs) rs1664160163
NM_020738.4(KIDINS220):c.4295del (p.Glu1432fs)
NM_020745.4(AARS2):c.2T>C (p.Met1Thr) rs2153358198
NM_020778.4:c.1178_1179insALU
NM_020778.5(ALPK3):c.-25dup rs2505689036
NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter) rs1567089714
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.143+1G>A rs2505689457
NM_020778.5(ALPK3):c.1438del (p.Arg480fs) rs1963653131
NM_020778.5(ALPK3):c.2464C>T (p.Gln822Ter) rs1173256548
NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter) rs2505720978
NM_020778.5(ALPK3):c.3313del (p.Ala1105fs) rs2505721718
NM_020778.5(ALPK3):c.3649_3662dup (p.Ser1222fs) rs2505722576
NM_020778.5(ALPK3):c.3818-1G>C rs2505723818
NM_020778.5(ALPK3):c.3818-1del rs2505723820
NM_020778.5(ALPK3):c.3947_3954dup (p.Val1319fs) rs2505724060
NM_020778.5(ALPK3):c.423-18_444del rs2505704683
NM_020778.5(ALPK3):c.4499+1G>A rs2505728562
NM_020778.5(ALPK3):c.4582G>T (p.Glu1528Ter) rs1380478280
NM_020778.5(ALPK3):c.4641dup (p.Glu1548Ter) rs2505729802
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs) rs2141556264
NM_020778.5(ALPK3):c.678_685dup (p.Gly229delinsAspTer) rs1963639299
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter) rs2141556463
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs) rs750622312
NM_020778.5(ALPK3):c.801_810delinsACCTGA (p.Asn267fs) rs2505705477
NM_020779.4(WDR35):c.24+1G>T rs1672702813
NM_020791.4(TAOK1):c.449G>T (p.Arg150Ile) rs2030989355
NM_020791.4(TAOK1):c.451G>A (p.Asp151Asn) rs2508205699
NM_020812.4(DOCK6):c.4650+1_4650+3del rs1280482569
NM_020812.4(DOCK6):c.82dup (p.Glu28fs)
NM_020822.3(KCNT1):c.1421G>T (p.Arg474Leu) rs397515404
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020964.3(EPG5):c.1678-1G>A rs755928939
NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs) rs1555721549
NM_020975.6(RET):c.1664T>G (p.Phe555Cys) rs2538470328
NM_020975.6(RET):c.1760-2_1760-1del rs2538480268
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) rs377767395
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1879+1del rs2538484349
NM_020975.6(RET):c.1888T>A (p.Cys630Ser) rs377767404
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2370_2371delinsTC (p.Leu790_Tyr791delinsPheHis) rs2538550904
NM_020975.6(RET):c.2617C>T (p.Arg873Trp) rs1838178513
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter) rs767479170
NM_020988.3(GNAO1):c.1030_1032del (p.Ile344del) rs2037954707
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro) rs1555499769
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) rs1567488305
NM_020988.3(GNAO1):c.550G>C (p.Gly184Arg) rs1555507383
NM_020988.3(GNAO1):c.601G>T (p.Asp201Tyr) rs567136805
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) rs398122392
NM_021005.4(NR2F2):c.940T>C (p.Cys314Arg) rs1555447237
NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr) rs2494455320
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.4(DEAF1):c.767T>C (p.Ile256Thr)
NM_021072.4(HCN1):c.459G>T (p.Met153Ile) rs1057519548
NM_021076.4(NEFH):c.3044_3045del (p.Lys1015fs) rs2517980084
NM_021120.4(DLG3):c.158_159insA (p.Tyr54fs) rs2519725228
NM_021614.4(KCNN2):c.1499T>C (p.Ile500Thr) rs2531643404
NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del) rs1554086554
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021870.3(FGG):c.1030G>A (p.Asp344Asn) rs1553965518
NM_021964.3(ZNF148):c.1581_1582insC (p.Lys528fs) rs1057519268
NM_021964.3(ZNF148):c.969dup (p.Ser324fs) rs1935959694
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) rs752827715
NM_022089.4(ATP13A2):c.3176T>G (p.Leu1059Arg) rs137853967
NM_022095.4(ZNF335):c.3092G>A (p.Arg1031Gln) rs1350201776
NM_022166.4(XYLT1):c.2560G>T (p.Glu854Ter) rs769391314
NM_022436.3(ABCG5):c.1325-1G>T rs768019354
NM_022436.3(ABCG5):c.774+2T>G
NM_022437.3(ABCG8):c.923G>T (p.Gly308Val)
NM_022455.5(NSD1):c.4756T>C (p.Cys1586Arg) rs1554198434
NM_022455.5(NSD1):c.5780C>A (p.Ala1927Asp) rs2127257326
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022489.4(INF2):c.271C>G (p.Arg91Gly) rs200247054
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr) rs587777509
NM_022552.5(DNMT3A):c.2386G>T (p.Gly796Cys)
NM_022552.5(DNMT3A):c.2606G>C (p.Gly869Ala)
NM_022552.5(DNMT3A):c.639G>A (p.Glu213=) rs2149365348
NM_022552.5(DNMT3A):c.911_913del (p.Ser304del) rs1674984864
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter) rs776584760
NM_022841.7(RFX7):c.2233G>T (p.Glu745Ter) rs2504988812
NM_022841.7(RFX7):c.2833_2839dup (p.Thr947fs)
NM_022893.4(BCL11A):c.2194dup (p.Arg732fs) rs1676202186
NM_022893.4(BCL11A):c.55+1G>A rs1670493597
NM_022893.4(BCL11A):c.794del (p.Leu265fs) rs1676346981
NM_023036.6(DNAI2):c.1212-2A>C rs2509762743
NM_024298.5(MBOAT7):c.855-2A>G rs2076192966
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.109dup (p.Arg37fs)
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter) rs2513999711
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) rs752675360
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928
NM_024422.6(DSC2):c.2250+1G>T
NM_024422.6(DSC2):c.354+2T>A rs2510955933
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024496.4(IRF2BPL):c.1412G>A (p.Trp471Ter) rs2503075725
NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs) rs1555377234
NM_024529.5(CDC73):c.1030+1G>A rs2527440253
NM_024529.5(CDC73):c.1067-2A>G rs2102038475
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.238-1G>T rs587776559
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro) rs2103117916
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.7(TBL1XR1):c.1341T>G (p.Ser447Arg) rs1553808295
NM_024665.7(TBL1XR1):c.793C>A (p.His265Asn)
NM_024665.7(TBL1XR1):c.991A>T (p.Ile331Phe) rs1553810244
NM_024675.3:c.1246_1247insALU
NM_024675.3:c.2098_2099insALU
NM_024675.3:c.2099_2100insALU
NM_024675.3:c.2454_2455insALU
NM_024675.3:c.2455_2456insALU
NM_024675.3:c.2913_2914insALU
NM_024675.3:c.3180_3181insALU
NM_024675.4(PALB2):c.-17_9delinsTTTTCTTC (p.Met1_Glu3del)
NM_024675.4(PALB2):c.108+1_108+2insC rs1597101776
NM_024675.4(PALB2):c.108+2_108+12delinsCGGC rs1597101736
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-2A>C rs730881897
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.1685-2A>C rs754660432
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1A>C (p.Met1Leu) rs879254144
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.2511_2514+6del rs2506401937
NM_024675.4(PALB2):c.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2514+1G>T rs886039729
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA rs2506395256
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2748+2T>C rs1060499821
NM_024675.4(PALB2):c.2749-1G>T rs1060502804
NM_024675.4(PALB2):c.2749-2A>C rs1555459747
NM_024675.4(PALB2):c.2749-2A>G rs1555459747
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>C rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>A rs864622481
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.2T>G (p.Met1Arg) rs756519825
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+1G>C rs1597079557
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-2A>C
NM_024675.4(PALB2):c.3114-554_3166del rs2506265634
NM_024675.4(PALB2):c.3201+1G>A rs587776423
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201+1del rs2506264238
NM_024675.4(PALB2):c.3201+3A>C rs876660215
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3240del (p.Glu1081fs) rs879254060
NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs) rs2506215712
NM_024675.4(PALB2):c.3296_3297delinsTTAACCCTA (p.Thr1099fs)
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs) rs2506214884
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3350_3350+1delinsC rs2142271053
NM_024675.4(PALB2):c.3351-1G>C rs1597062406
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.3351-2A>T rs1060502764
NM_024675.4(PALB2):c.3392del (p.Ile1131fs) rs1966404530
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs) rs2506197444
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter) rs878855118
NM_024675.4(PALB2):c.3432del (p.Gly1145fs) rs2506196933
NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs) rs2506196596
NM_024675.4(PALB2):c.3449_3455del (p.Leu1150fs) rs2506196512
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter) rs1597061983
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) rs773829275
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs) rs2142251364
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>C rs515726118
NM_024675.4(PALB2):c.48+1del rs1060499829
NM_024675.4(PALB2):c.48+2T>G rs876659679
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.86_108+12dup rs2142459504
NM_024675.4(PALB2):c.9_48+118del rs2506568316
NM_024685.4(BBS10):c.1804G>T (p.Val602Leu) rs778431173
NM_024757.5(EHMT1):c.2426C>G (p.Pro809Arg) rs587780332
NM_024757.5(EHMT1):c.3447C>T (p.Gly1149=) rs2538749942
NM_024818.6(UBA5):c.638C>T (p.Ser213Leu) rs376997494
NM_024884.3(L2HGDH):c.632G>T (p.Gly211Val) rs757615298
NM_025077.4(TOE1):c.539T>A (p.Leu180Gln) rs1647053042
NM_025132.4(WDR19):c.2646-2A>G rs890152763
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) rs1733504639
NM_025137.4(SPG11):c.5866+5G>C rs1256036525
NM_025137.4(SPG11):c.7152-2A>G rs1331584604
NM_025152.3(NUBPL):c.257-2A>G rs2033399542
NM_025216.3(WNT10A):c.725T>G (p.Met242Arg) rs370462053
NM_030632.3(ASXL3):c.3039+2T>A rs1555743005
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.5623A>T (p.Lys1875Ter) rs2067763918
NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_031206.7(LAS1L):c.1430G>A (p.Ser477Asn) rs797044926
NM_031263.4(HNRNPK):c.1092+1G>A rs2491961949
NM_031263.4(HNRNPK):c.213+1G>A rs2492017105
NM_031263.4(HNRNPK):c.248G>A (p.Gly83Asp) rs1064794967
NM_031263.4(HNRNPK):c.676_678del (p.Asp226del) rs1956875321
NM_031307.4(PUS3):c.981dup (p.Lys328Ter) rs756816369
NM_031407.7(HUWE1):c.12904G>A (p.Gly4302Ser) rs1556909335
NM_031418.4(ANO3):c.922A>C (p.Ile308Leu) rs869312951
NM_031844.3(HNRNPU):c.970A>G (p.Arg324Gly) rs1553283037
NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup
NM_032043.2:c.577_578insALU
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1140+3del rs2145331108
NM_032043.3(BRIP1):c.1140+6T>C rs2145330960
NM_032043.3(BRIP1):c.1141-1G>A
NM_032043.3(BRIP1):c.1141-1G>C
NM_032043.3(BRIP1):c.1141-2A>G rs769583916
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter) rs2145852357
NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter) rs2545472842
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+4_1473+8del rs730881650
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter) rs2078973424
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1629-2A>G rs2145098172
NM_032043.3(BRIP1):c.1794+1G>A rs766516963
NM_032043.3(BRIP1):c.1794+2T>A rs2545026298
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.204_205+1delinsAGT rs2545471112
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2098-1G>T rs2144701807
NM_032043.3(BRIP1):c.2098-3_2098-1delinsAA rs2544839892
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2492+1G>A rs1567755539
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-12_2505del
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-1G>C rs786203451
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser) rs45572934
NM_032043.3(BRIP1):c.2575+1G>C rs1567737536
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2859del (p.Asn955fs) rs2544570094
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2905+1G>C rs876660203
NM_032043.3(BRIP1):c.2905+1G>T rs876660203
NM_032043.3(BRIP1):c.2905+2T>C rs1603276502
NM_032043.3(BRIP1):c.2905+3A>T rs1555573247
NM_032043.3(BRIP1):c.2986C>T (p.Gln996Ter) rs1567729513
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs) rs1555572799
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1del rs2545457733
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+1G>T rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.628-3C>G rs2145424078
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.727A>G (p.Ile243Val) rs2078113517
NM_032043.3(BRIP1):c.72del (p.Gln25fs) rs2545480017
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter) rs2078971612
NM_032043.3(BRIP1):c.90_93+4del rs2545479555
NM_032043.3(BRIP1):c.918+2T>C rs1603346587
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2del rs2145863423
NM_032043.3(BRIP1):c.93+2dup rs786202125
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.93+5G>C rs730881629
NM_032043.3(BRIP1):c.94-2A>G rs2145853178
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys) rs2057483219
NM_032482.3(DOT1L):c.3882dup (p.Gly1295fs) rs2024330843
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1082G>A (p.Arg361His) rs387906634
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1143+2T>A rs2107668560
NM_032730.5(RTN4IP1):c.1084A>T (p.Ile362Phe) rs1775080757
NM_032806.6(POMGNT2):c.880C>T (p.Arg294Ter) rs771399440
NM_032888.4(COL27A1):c.3062G>A (p.Gly1021Asp) rs1554816354
NM_032982.4(CASP2):c.560_561del (p.His187fs) rs1801677859
NM_033022.4(RPS24):c.279+5G>T rs2493281976
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033380.3(COL4A5):c.1931G>T (p.Gly644Val) rs1569494386
NM_033380.3(COL4A5):c.404G>T (p.Gly135Val) rs1556403086
NM_033380.3(COL4A5):c.546+1G>A rs104886429
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) rs1555783543
NM_033409.4(SLC52A3):c.1203dup (p.Ser402fs) rs1018903291
NM_033453.4(ITPA):c.403del (p.Arg135fs) rs2514460185
NM_052867.4(NALCN):c.4605-1G>C rs1555373511
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052867.4(NALCN):c.986G>C (p.Arg329Thr) rs2043574947
NM_052874.5(STX1B):c.106-2A>G rs1567379470
NM_052874.5(STX1B):c.431G>T (p.Cys144Phe) rs1555494259
NM_052874.5(STX1B):c.768T>A (p.Tyr256Ter) rs2056572481
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_057175.5(NAA15):c.1410+1G>A rs1553996876
NM_057175.5(NAA15):c.1753G>A (p.Ala585Thr) rs1748144362
NM_057175.5(NAA15):c.2338C>T (p.Gln780Ter) rs2530484956
NM_058195.4(CDKN2A):c.193+1del rs1820525500
NM_058195.4(CDKN2A):c.193+2T>C rs2131147945
NM_058195.4(CDKN2A):c.193+5G>A rs587782083
NM_058216.1:c.371_372insALU
NM_058216.3(RAD51C):c.1004_1005delinsAA (p.Cys335Ter) rs1598535096
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.126dup (p.Pro43fs) rs2509262385
NM_058216.3(RAD51C):c.145+177G>T rs1429436465
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.145+749A>G rs2509267906
NM_058216.3(RAD51C):c.146-1G>T rs1555593458
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.404+1G>A rs1555593939
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.42_45dup (p.Ser16fs) rs2509260903
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) rs1598448896
NM_058216.3(RAD51C):c.570_571+16del rs2509283705
NM_058216.3(RAD51C):c.571+1G>T rs746870368
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys) rs1598460983
NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter) rs1598460983
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-1G>T rs1555599090
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.917dup (p.His307fs) rs2143961536
NM_058216.3(RAD51C):c.964A>G (p.Arg322Gly) rs864622343
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter) rs2144044910
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_078470.6(COX15):c.750+1G>A rs2036859860
NM_078480.3(PUF60):c.478_479del (p.Met160fs) rs1554643473
NM_080680.3(COL11A2):c.2268+1G>T rs797044915
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg) rs2514853132
NM_130839.5(UBE3A):c.1456A>G (p.Lys486Glu) rs1566954813
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) rs587781233
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_133433.4(NIPBL):c.3810GAA[1] (p.Lys1271del) rs2478115308
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133443.4(GPT2):c.459C>G (p.Ser153Arg) rs786203999
NM_134261.3(RORA):c.1384C>T (p.Arg462Ter) rs1198203108
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_138576.4(BCL11B):c.2518_2519del (p.Thr840fs) rs2503636070
NM_138615.3(DHX30):c.2354G>A (p.Arg785His) rs1553706799
NM_138773.4(SLC25A46):c.1078_1087dup (p.Asn363delinsThrSerAsnTer) rs1561610094
NM_138773.4(SLC25A46):c.998del (p.Pro333fs) rs2547533578
NM_139058.3(ARX):c.1384_1406del (p.Leu462fs) rs2519101445
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_144628.4(TBC1D20):c.627-1G>C rs1600328992
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144997.7(FLCN):c.1176+1G>A rs1555607929
NM_144997.7(FLCN):c.1176+1G>C rs1555607929
NM_144997.7(FLCN):c.1176+1G>T rs1555607929
NM_144997.7(FLCN):c.1300+1G>T
NM_144997.7(FLCN):c.1300+5G>C rs746264578
NM_144997.7(FLCN):c.1301-1G>A rs2046884079
NM_144997.7(FLCN):c.1301-2A>C rs1555607296
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1432+1G>T rs755959303
NM_144997.7(FLCN):c.1498del (p.Val500fs) rs1597578776
NM_144997.7(FLCN):c.1538+1G>A rs2046866025
NM_144997.7(FLCN):c.1539-1_1540del rs2544126650
NM_144997.7(FLCN):c.1615dup (p.Leu539fs) rs2544124546
NM_144997.7(FLCN):c.1616dup (p.Ala541fs) rs2144810362
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.1_18delinsTGTTGCAG (p.Met1fs) rs2544315366
NM_144997.7(FLCN):c.32G>A (p.Cys11Tyr) rs2544314925
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp) rs754616167
NM_144997.7(FLCN):c.394G>A (p.Glu132Lys) rs2145009956
NM_144997.7(FLCN):c.397-1G>T rs2144983515
NM_144997.7(FLCN):c.397-2A>G rs2144983543
NM_144997.7(FLCN):c.761T>C (p.Leu254Pro) rs2544232040
NM_144997.7(FLCN):c.871+132G>T rs1460258176
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter) rs1597618162
NM_145167.3(PIGM):c.2T>C (p.Met1Thr) rs776715594
NM_152268.4(PARS2):c.865C>T (p.Gln289Ter) rs1553183771
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His) rs200891944
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr) rs1555859593
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs) rs2542743815
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.2291dup (p.Gly765fs) rs1463777746
NM_152756.5(RICTOR):c.4346del (p.Asn1449fs) rs1554059320
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.754C>G (p.Leu252Val) rs200652879
NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro) rs149475825
NM_170606.3(KMT2C):c.13243G>A (p.Gly4415Arg)
NM_170606.3(KMT2C):c.3320A>G (p.Asp1107Gly)
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1381-1G>A rs2528006468
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1489-1G>A rs1231097123
NM_170707.4(LMNA):c.1489-2A>G rs879254081
NM_170707.4(LMNA):c.1608+2T>G rs2102896324
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro) rs2527936976
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.514-2A>G
NM_170707.4(LMNA):c.639+1G>T rs869125101
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) rs59914820
NM_170707.4(LMNA):c.937-1G>A rs1553265606
NM_170707.4(LMNA):c.937-2A>G rs2527988932
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1962_1963del (p.Glu654fs) rs2516104257
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.592C>G (p.Arg198Gly)
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val) rs2145774563
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.839A>G (p.Tyr280Cys) rs1568927820
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_173495.3(PTCHD1):c.963del (p.Gly322fs) rs2518760233
NM_173659.5(RPUSD3):c.646C>T (p.Arg216Cys) rs767103943
NM_174916.3(UBR1):c.3848+1G>T rs758623165
NM_174936.4(PCSK9):c.1120G>C (p.Asp374His) rs137852912
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C rs2515692811
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176869.3(PPA2):c.528+1G>A rs1032144565
NM_177438.2(DICER1):c.4051delG
NM_177438.3(DICER1):c.136A>T (p.Lys46Ter)
NM_177438.3(DICER1):c.1376+1G>A rs886037670
NM_177438.3(DICER1):c.1377-1G>T rs2543064634
NM_177438.3(DICER1):c.1752+301T>G
NM_177438.3(DICER1):c.1753-9A>G rs1595407392
NM_177438.3(DICER1):c.1907+1G>T rs1131691217
NM_177438.3(DICER1):c.1908-3C>G rs1462448145
NM_177438.3(DICER1):c.2040+5G>A
NM_177438.3(DICER1):c.2041-2A>G rs1131691204
NM_177438.3(DICER1):c.2041-5_2041-2del rs1595394092
NM_177438.3(DICER1):c.2041-7_2041-2delinsAT rs2542932578
NM_177438.3(DICER1):c.2256+5G>C rs1595390864
NM_177438.3(DICER1):c.2256+5G>T rs1595390864
NM_177438.3(DICER1):c.2257-7A>G rs1891665514
NM_177438.3(DICER1):c.2436+1G>T rs1595381795
NM_177438.3(DICER1):c.2436+1dup rs2542851457
NM_177438.3(DICER1):c.2650+1G>A rs886037691
NM_177438.3(DICER1):c.2650+5G>A rs1168700780
NM_177438.3(DICER1):c.2651-1G>C rs1595379448
NM_177438.3(DICER1):c.2988-2A>G rs1595372950
NM_177438.3(DICER1):c.3092_3093+1delinsTGT rs2542772237
NM_177438.3(DICER1):c.3269+2T>A rs1232103009
NM_177438.3(DICER1):c.3270-2A>G
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4051-1G>A rs1595354013
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.3(DICER1):c.5364+1G>A rs1131691227
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly) rs886037729
NM_177438.3(DICER1):c.734+3A>C
NM_177438.3(DICER1):c.734+3A>T rs377208116
NM_177550.5(SLC13A5):c.548-1G>A rs2544638751
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser) rs1555762734
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491
NM_178012.5(TUBB2B):c.526T>C (p.Ser176Pro) rs1757277674
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_178014.4(TUBB):c.979G>A (p.Asp327Asn) rs1776459285
NM_178526.5(SLC25A42):c.623_624del (p.Thr207_Tyr208insTer) rs2514112962
NM_181303.2(NLGN3):c.577+1G>A rs2519746029
NM_181426.2(CCDC39):c.1874+2T>C rs1717963637
NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter) rs2540425164
NM_181486.4(TBX5):c.1485del (p.Thr496fs) rs2540424549
NM_181486.4(TBX5):c.982+2T>G rs2136373205
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) rs397514046
NM_181552.4(CUX1):c.268+1G>A rs1825996355
NM_181552.4(CUX1):c.4242_4260del (p.Ala1415fs)
NM_181882.3(PRX):c.184+2T>C rs2079511684
NM_182931.3(KMT2E):c.1249-1G>C rs1797769314
NM_182931.3(KMT2E):c.2847+5G>A rs2536506721
NM_182977.3(NNT):c.2798A>G (p.Tyr933Cys) rs1741493255
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183357.3(ADCY5):c.3037C>T (p.Arg1013Cys) rs1365372289
NM_198173.3(GRHL3):c.1795C>G (p.Leu599Val) rs797044857
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro) rs917650159
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.219+2T>A rs2126691326
NM_198253.3(TERT):c.2286+1G>A rs1749780301
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2648T>G (p.Phe883Cys) rs2478165471
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.421C>G (p.Leu141Val) rs775225240
NM_198904.4(GABRG2):c.1027T>C (p.Phe343Leu) rs1554100923
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp) rs146470870
NM_198904.4(GABRG2):c.259+1G>A rs2113298764
NM_198904.4(GABRG2):c.808A>G (p.Arg270Gly) rs796052520
NM_198904.4(GABRG2):c.917C>A (p.Ser306Tyr) rs2113599212
NM_198965.2(PTHLH):c.524+2T>C rs1555124505
NM_199334.5(THRA):c.788C>T (p.Ala263Val) rs1555545033
NM_201525.4(ADGRG1):c.1352A>G (p.Asp451Gly) rs142684762
NM_205767.3(MICOS13):c.78C>A (p.Tyr26Ter) rs1407611048
NM_205768.3(ZBTB18):c.1118del (p.Ser373fs) rs875989785
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) rs2075181154
NM_205861.3(DHDDS):c.631C>G (p.Arg211Gly)
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu) rs1553261476
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206937.2(LIG4):c.2336del (p.Phe778_Ser779insTer) rs2501580705
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu) rs2138978193
NM_206937.2(LIG4):c.907G>C (p.Gly303Arg) rs1131691430
NM_213607.3(DNAAF19):c.289dup (p.Leu97fs) rs1292757961
PALB2:c.2515-1G>T rs587776417
Single allele

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