ClinVar Miner

List of variants reported as likely pathogenic by Ambry Genetics

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ClinVar version:
Total variants: 6614
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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 0.00348
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer) rs555387669 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 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_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys) rs137853202 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
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_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_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 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_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 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_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_032756.4(HPDL):c.859T>C (p.Tyr287His) rs777360560 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 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_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 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_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00008
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
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_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001283.5(AP1S1):c.291+2T>A rs1310110289 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_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 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_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 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_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 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_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 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_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000237.3(LPL):c.589C>T (p.Arg197Cys) rs768128481 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 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_000369.5(TSHR):c.1342G>A (p.Val448Ile) rs201889708 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 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.834G>A (p.Val278=) rs201948406 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 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_002439.5(MSH3):c.1341-1G>T rs61754780 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_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 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_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs) rs752022363 0.00004
NM_022773.4(LMF1):c.1323del (p.Phe441fs) rs760536168 0.00004
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 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_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 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_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.427C>T (p.Arg143Trp) rs727503278 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_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 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.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 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_000687.4(AHCY):c.257A>G (p.Asp86Gly) rs773162208 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_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 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.983-1G>T rs777285019 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_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 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_002439.5(MSH3):c.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2436-1G>A rs200639359 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_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 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_007325.5(GRIA3):c.2T>C (p.Met1Thr) rs752728469 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_014845.6(FIG4):c.2459+1G>A rs747768373 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.319G>A (p.Val107Met) rs140583554 0.00003
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 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_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_183357.3(ADCY5):c.1646+1G>A rs746547282 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_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 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_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 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.1774G>A (p.Gly592Arg) rs763147599 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_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746 0.00002
NM_001001344.3(ATP2B3):c.3338C>T (p.Thr1113Met) rs368215361 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_001160372.4(TRAPPC9):c.1982-1G>A rs1465738840 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_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr) rs781923856 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_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter) rs1403296082 0.00002
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile) rs1173242313 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.620C>T (p.Ser207Leu) rs370228071 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_004608.4(TBX6):c.512G>A (p.Arg171His) rs768465241 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.402+1G>A rs929767929 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_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 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_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) rs926748713 0.00002
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 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_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_000039.3(APOA1):c.296T>C (p.Leu99Pro) rs372520221 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 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.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 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.6095+1G>A rs587781584 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.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692 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.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 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.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 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.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9648+1G>C rs730881573 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.259C>T (p.Arg87Trp) rs749714198 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_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 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.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 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_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 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.676G>A (p.Val226Met) rs148311934 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_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 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.3227G>A (p.Arg1076His) rs779617676 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.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000237.3(LPL):c.1139+1G>A rs767260655 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.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.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.2737+5G>A rs398123280 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.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 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.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 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_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 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_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_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 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_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 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.1099C>T (p.Arg367Cys) rs199473097 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.4716C>T (p.Gly1572=) rs754221948 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_000350.3(ABCA4):c.4253+4C>T rs61754044 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_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 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.3047T>C (p.Phe1016Ser) rs397508488 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.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.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.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 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.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 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.664T>C (p.Cys222Arg) rs577934998 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_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 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.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 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.9472+1G>A rs776697656 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.492G>C (p.Gln164His) rs1352275281 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_000791.4(DHFR):c.-476C>G rs1196929384 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_001031689.3(PLAA):c.1487-1G>A rs1426488816 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.3610C>T (p.Arg1204Trp) rs199474732 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.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.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 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_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_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_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 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.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.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.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 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.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer) rs2052216955 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 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.61921C>T (p.Arg20641Ter) rs878854324 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.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.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 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.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.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 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.890G>A (p.Trp297Ter) rs727504247 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_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_001367721.1(CASK):c.2486A>G (p.Gln829Arg) rs759736132 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.1730G>C (p.Arg577Thr) rs397515541 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.888del (p.Ile296fs) rs1477198098 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 0.00001
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp) rs1261616345 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_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.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349 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_001987.5(ETV6):c.1106G>A (p.Arg369Gln) rs724159946 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.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+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.7A>T (p.Lys3Ter) rs779098734 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.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_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.540G>A (p.Leu180=) rs528442805 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 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_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133 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_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.761G>A (p.Arg254His) rs751948498 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 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_003793.4(CTSF):c.1045+1G>T rs1456291681 0.00001
NM_003872.3(NRP2):c.2118del (p.Val707fs) rs779617179 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.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.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_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 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_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) rs555710402 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_005548.3(KARS1):c.22G>T (p.Glu8Ter) rs869312925 0.00001
NM_005591.4(MRE11):c.1225+2T>C rs145058858 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.315-2A>G rs876659145 0.00001
NM_005732.4(RAD50):c.1052-2A>C rs876660957 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.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.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_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.1785+1G>A rs145594158 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.651+1G>T rs1450044732 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.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.846+1G>C rs864622149 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.5407-25T>A rs758780152 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_015039.4(NMNAT2):c.695G>A (p.Arg232Gln) rs768849266 0.00001
NM_015450.3(POT1):c.1506-1G>A rs1418539002 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 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_016180.5(SLC45A2):c.454T>C (p.Phe152Leu) rs202120684 0.00001
NM_016401.4(HIKESHI):c.164A>G (p.Tyr55Cys) rs1387003933 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.371-2A>G rs375280597 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 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_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_020964.3(EPG5):c.1678-1G>A rs755928939 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_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.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>A rs766516963 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_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.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 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_144997.7(FLCN):c.1433-2A>G rs398124528 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_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter) rs753670589 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_170707.4(LMNA):c.1608+5G>A rs267607539 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.640-10A>G rs80356807 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_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 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_000004.11:g.15589466_15589468delGAA rs794729225
NC_000009.12:g.95482199_95482204del
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe)
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)
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His)
NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala)
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
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)
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile)
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
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
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
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)
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro)
NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg)
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser)
NM_000020.3(ACVRL1):c.313+2T>C
NM_000020.3(ACVRL1):c.313_313+1del
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-1G>C
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
NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg)
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val)
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
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)
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
NM_000020.3(ACVRL1):c.839A>G (p.His280Arg)
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)
NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp)
NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn)
NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp)
NM_000027.4(AGA):c.394+1G>A
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys) rs2091726692
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
NM_000033.4(ABCD1):c.1585G>A (p.Gly529Ser) rs2148397619
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)
NM_000038.6(APC):c.1312+1G>T rs863225310
NM_000038.6(APC):c.135+1G>C
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.1409-3T>G rs1554081629
NM_000038.6(APC):c.1549-8A>G
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1627-3C>A
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.1743+2T>A
NM_000038.6(APC):c.1743+2T>C
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1743G>T (p.Lys581Asn)
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1959-2A>C
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.2877_2898del (p.Asn961fs)
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.3443_3444del (p.Tyr1147_Ser1148insTer) rs1765424969
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) rs587779790
NM_000038.6(APC):c.386A>T (p.Glu129Val) rs759662717
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) rs876660713
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.423-3958C>T
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg) rs138367627
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe) rs587781935
NM_000038.6(APC):c.4778dup (p.Pro1594fs)
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.531+5G>A rs587779798
NM_000038.6(APC):c.532-934A>T
NM_000038.6(APC):c.6102del (p.Glu2035fs) rs2149957064
NM_000038.6(APC):c.6281del (p.Pro2094fs) rs876660816
NM_000038.6(APC):c.645+2T>G rs786202351
NM_000038.6(APC):c.6567del (p.Gly2190fs)
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter) rs2149972499
NM_000038.6(APC):c.6919dup (p.Ser2307fs)
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter)
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter)
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)
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter)
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs) rs1580690024
NM_000038.6(APC):c.8310_8311del (p.His2770fs) rs1561622234
NM_000038.6(APC):c.8332dup (p.Ala2778fs)
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)
NM_000038.6(APC):c.8435del (p.Asn2812fs) rs1766745307
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
NM_000038.6(APC):c.933+2T>G rs1057517559
NM_000038.6(APC):c.933G>A (p.Lys311=)
NM_000038.6(APC):c.933G>C (p.Lys311Asn) rs1762431806
NM_000046.5(ARSB):c.730C>A (p.Pro244Thr) rs1751681202
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.80G>T (p.Gly27Val)
NM_000051.3:c.2839-3insALU
NM_000051.3:c.3167_3168insALU
NM_000051.3:c.435_436insALU
NM_000051.3:c.4479_4480insL1
NM_000051.3:c.5770_5771insALU
NM_000051.3:c.5889_5890insALU
NM_000051.3:c.7374_7375insAlu
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>T rs1555069514
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1236-1G>C rs1408719214
NM_000051.4(ATM):c.1236-2del rs1565381646
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+1del
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
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
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)
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.186-1G>T
NM_000051.4(ATM):c.186-1del
NM_000051.4(ATM):c.1899-1G>T rs1555073065
NM_000051.4(ATM):c.1899-20A>C
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2125-2A>G
NM_000051.4(ATM):c.2125-910T>G
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
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
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+2dup
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.2467-2A>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.2639-7_2639-2del
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.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2922-1G>T rs1555084931
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.3077+1G>T rs192810283
NM_000051.4(ATM):c.3078-2A>G
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)
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
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+2800A>G
NM_000051.4(ATM):c.331+2_331+7del
NM_000051.4(ATM):c.332-1G>C
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+2T>C rs876659430
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3403-1G>A rs1555091120
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
NM_000051.4(ATM):c.3577-1G>A
NM_000051.4(ATM):c.3577-1G>T
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
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.3747-1G>A rs730881364
NM_000051.4(ATM):c.3747-1G>C rs730881364
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)
NM_000051.4(ATM):c.3993+2T>A
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-1G>T rs1057516238
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.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.4435_4436+10del
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)
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
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+286A>G
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.497-1142dup
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5177+2T>C
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-1G>T rs1555105579
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)
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
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
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
NM_000051.4(ATM):c.5763-18_5772del
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.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.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.6348-2A>C
NM_000051.4(ATM):c.6451A>C (p.Arg2151=)
NM_000051.4(ATM):c.6572+1G>A 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
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
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
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.6807+1_6807+7del
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
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)
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+1del
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.7307+2_7307+4delinsCC
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.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7515+1G>C
NM_000051.4(ATM):c.7516-1G>A
NM_000051.4(ATM):c.7516-1G>C
NM_000051.4(ATM):c.7516-2A>G
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1G>T
NM_000051.4(ATM):c.7630-12_7630-11del
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.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7789-29_7789-16del
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)
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn)
NM_000051.4(ATM):c.8011-1G>C rs1555127017
NM_000051.4(ATM):c.8011-21_8015del
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.8146G>T (p.Val2716Phe) rs730881385
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
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.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
NM_000051.4(ATM):c.8269-2A>G
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
NM_000051.4(ATM):c.8419-1G>C rs1555137920
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+16A>G rs1322889530
NM_000051.4(ATM):c.8584+1G>A rs876658182
NM_000051.4(ATM):c.8585-1G>A rs876660066
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8671+1G>A
NM_000051.4(ATM):c.8671+2T>G rs1057516229
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>T rs876660088
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del)
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
NM_000051.4(ATM):c.8850+2T>C rs1555143623
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-2A>T
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs) rs2091211325
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)
NM_000051.4(ATM):c.9071del (p.Thr3024fs)
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
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
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.2555+1G>A
NM_000057.4(BLM):c.2555+1G>C
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
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)
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.99-1G>A
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000059.3:c.2829_2830insALU
NM_000059.3:c.3390_3391insALU
NM_000059.3:c.3834_3835insALU
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
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.475+2T>C rs1555280966
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
NM_000059.4(BRCA2):c.517-2A>G rs81002858
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
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.681+2dup rs587781486
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
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
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>C rs1434072252
NM_000059.4(BRCA2):c.7436-1G>A
NM_000059.4(BRCA2):c.7436-2_7437del rs876659229
NM_000059.4(BRCA2):c.7510_7617+184del
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7618-187G>T
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
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
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.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
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.7874G>T (p.Arg2625Ile) rs864622552
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
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.7958T>C (p.Leu2653Pro) rs80359022
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.7977-4_7977-3del rs876659992
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
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.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8332-3384A>T
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>C (p.Leu2792Pro) rs28897751
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.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8488-1_8496delinsCT rs1555287731
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
NM_000059.4(BRCA2):c.8633-2A>G rs81002886
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+1del rs1593935041
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
NM_000059.4(BRCA2):c.8755-6_8755-2del
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.9004G>A (p.Glu3002Lys) rs80359152
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
NM_000059.4(BRCA2):c.9117+1del rs869320801
NM_000059.4(BRCA2):c.9117+3A>G rs1555288517
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
NM_000059.4(BRCA2):c.9257-1G>A rs81002889
NM_000059.4(BRCA2):c.9257-1G>T
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>A rs397508058
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.9502-1G>A
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
NM_000059.4(BRCA2):c.9502-8_9504dup
NM_000059.4(BRCA2):c.9649-12T>G
NM_000059.4(BRCA2):c.9649-1G>C rs1555289898
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter) rs1555289997
NM_000062.3(SERPING1):c.1187T>G (p.Leu396Arg)
NM_000062.3(SERPING1):c.1223A>G (p.Asp408Gly)
NM_000062.3(SERPING1):c.1493C>T (p.Pro498Leu)
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.862G>A (p.Ala288Thr) rs141502207
NM_000077.5(CDKN2A):c.-21C>T rs762129503
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg)
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) rs763804037
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu)
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.5(CDKN2A):c.150+2T>G
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>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.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
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)
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+1_457+10del rs1587330284
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_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp)
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)
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_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.596G>A (p.Gly199Asp) rs1554395833
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
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.1258G>A (p.Gly420Ser) rs587779692
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.1421G>T (p.Gly474Val) rs1553507991
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1608+1G>A
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)
NM_000090.4(COL3A1):c.1862_1869+5del
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
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)
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
NM_000090.4(COL3A1):c.2229+1G>A rs1576468385
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
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.2924G>C (p.Gly975Ala)
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
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.3374G>A (p.Gly1125Asp)
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.448-1G>T rs1688078187
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.528+5G>T
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.582+2_582+16del
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.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.970G>A (p.Gly324Ser) rs587779650
NM_000091.5(COL4A3):c.2656+1G>T
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp)
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_000093.5(COL5A1):c.54del (p.Leu19fs)
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)
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.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.521+1G>T
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)
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1147_1147+9del
NM_000138.5(FBN1):c.1148-1G>C
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.1428C>G (p.Cys476Trp)
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.164+1G>C
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
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.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser)
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)
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
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)
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.2953G>A (p.Gly985Arg) rs794728199
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.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
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.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp) rs886039492
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)
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.4204T>C (p.Cys1402Arg)
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp)
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr) 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)
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4459+1del
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.4537T>G (p.Cys1513Gly)
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.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser)
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) 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)
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.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
NM_000138.5(FBN1):c.5542_5545+11del
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr)
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)
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
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)
NM_000138.5(FBN1):c.5918-2A>G rs869025418
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.5999G>A (p.Cys2000Tyr) rs1555395645
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)
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe)
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg)
NM_000138.5(FBN1):c.6313+3A>T
NM_000138.5(FBN1):c.6314-1G>A
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
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)
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)
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp)
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.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.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.7832G>A (p.Cys2611Tyr) rs794728337
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)
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)
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_000138.5(FBN1):c.8607del (p.Leu2869fs)
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_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
NM_000143.4(FH):c.1112A>G (p.Lys371Arg) rs863224005
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.1153_1155dup (p.Ala385_Gln386insAla)
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
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.1236+2T>C
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
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.275TTA[1] (p.Ile93del) rs1573886490
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
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.404A>G (p.His135Arg) rs786202833
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.470T>G (p.Ile157Ser) rs2147921876
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
NM_000143.4(FH):c.524T>G (p.Val175Gly)
NM_000143.4(FH):c.555+5G>A
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
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.738+1G>A rs1659988368
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738G>C (p.Gln246His) rs2147919372
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.4(FH):c.827G>A (p.Gly276Asp) rs2147917609
NM_000143.4(FH):c.827G>T (p.Gly276Val)
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
NM_000143.4(FH):c.905-1G>C rs797044973
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.950C>T (p.Ala317Val) rs2147916281
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
NM_000143.4(FH):c.956A>T (p.Asp319Val)
NM_000143.4(FH):c.965T>A (p.Val322Asp)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000144.5(FXN):c.11_12del (p.Leu4fs) rs143232208
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000155.4(GALT):c.406G>C (p.Asp136His)
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)
NM_000157.4(GBA1):c.517A>G (p.Thr173Ala)
NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)
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.1260G>T (p.Lys420Asn)
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.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
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.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.580-1G>C
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)
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)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
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.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_000169.3(GLA):c.1077_1086del (p.Gly360fs)
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.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)
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.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.962A>G (p.Gln321Arg) rs1928161905
NM_000179.2(MSH6):c.-127_196dup323
NM_000179.2:c.1826_1827insALU
NM_000179.2:c.3311_3312insSVA
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.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys) rs587782706
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp) rs63750985
NM_000179.3(MSH6):c.2333T>C (p.Leu778Pro)
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser) rs587779235
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro) rs587779236
NM_000179.3(MSH6):c.2392_2394del (p.Leu798del)
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
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)
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
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.261-2del
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)
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-1G>A rs397515875
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-1del
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
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.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)
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
NM_000179.3(MSH6):c.3556+4_3556+8del rs1572739119
NM_000179.3(MSH6):c.3557-1G>A
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3557-2A>C
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3632T>G (p.Leu1211Arg)
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1del
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3646+2T>G
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.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
NM_000179.3(MSH6):c.3801+1G>A
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
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.3889_3891delinsGG (p.Ser1297fs)
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs) rs1670120965
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup) rs1670125444
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
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)
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.3(MSH6):c.3957_3958dup (p.Ala1320fs)
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.4000_4001+20del
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001+1G>T
NM_000179.3(MSH6):c.4001+1_4001+25del
NM_000179.3(MSH6):c.4001+2T>A rs267608131
NM_000179.3(MSH6):c.4002-1G>A rs1302369946
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_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)
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) rs1556026984
NM_000202.8(IDS):c.1406C>G (p.Pro469Arg)
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.213C>A (p.Ser71Arg)
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
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)
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
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.1140G>T (p.Arg380Ser) rs199472771
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.1669A>G (p.Lys557Glu) rs199472801
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)
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
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.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
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.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
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.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000223.4(KRT12):c.385A>G (p.Met129Val) rs267607387
NM_000226.4(KRT9):c.512T>G (p.Val171Gly)
NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys)
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000238.4(KCNH2):c.1128+1G>C
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
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.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.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
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
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.298C>T (p.Arg100Trp) rs121912515
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.832_916+11del
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu)
NM_000238.4(KCNH2):c.917-1G>T
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.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_000249.4(MLH1):c.1024_1038+1del rs1553648201
NM_000249.4(MLH1):c.1038+2T>A
NM_000249.4(MLH1):c.1038+2T>C
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.115T>C (p.Cys39Arg) rs587778890
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
NM_000249.4(MLH1):c.116+96C>T
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116_116+2del
NM_000249.4(MLH1):c.117-11T>A rs267607711
NM_000249.4(MLH1):c.117-1G>C
NM_000249.4(MLH1):c.117-2A>C
NM_000249.4(MLH1):c.117-3C>G
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)
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
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.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro) rs63750511
NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg)
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.4(MLH1):c.1667+1del rs1553658246
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1668-2del
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
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
NM_000249.4(MLH1):c.1731+2T>C rs267607856
NM_000249.4(MLH1):c.1731+2dup
NM_000249.4(MLH1):c.1731+5G>C
NM_000249.4(MLH1):c.1731G>T (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1732-9_1747delinsCC
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg)
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) 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)
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)
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.187G>C (p.Asp63His) rs63750850
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)
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
NM_000249.4(MLH1):c.1897-14_1897-1del
NM_000249.4(MLH1):c.1897-15_1901del
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly)
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp)
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys)
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr)
NM_000249.4(MLH1):c.1943C>A (p.Pro648His)
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.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989+3dup
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
NM_000249.4(MLH1):c.1990-2A>T
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs)
NM_000249.4(MLH1):c.2019del (p.Phe673fs)
NM_000249.4(MLH1):c.2024del (p.Ser675fs)
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg) rs63750242
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs)
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del)
NM_000249.4(MLH1):c.2037del (p.Glu679fs)
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.2048T>C (p.Phe683Ser) rs587778972
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
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)
NM_000249.4(MLH1):c.2096del (p.Gly699fs)
NM_000249.4(MLH1):c.2103+2T>A
NM_000249.4(MLH1):c.2103+2T>C
NM_000249.4(MLH1):c.2103+2T>G
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C
NM_000249.4(MLH1):c.2104-7_2147del
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs)
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs)
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs)
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)
NM_000249.4(MLH1):c.2178del (p.His727fs)
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)
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs)
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs) rs786202326
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
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)
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs) rs1559597322
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln)
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr) rs267607908
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr)
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)
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)
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+2T>G rs1553640340
NM_000249.4(MLH1):c.307-1G>A
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)
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys)
NM_000249.4(MLH1):c.380+1del
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
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
NM_000249.4(MLH1):c.453+2dup
NM_000249.4(MLH1):c.454-10_455delinsGAACA
NM_000249.4(MLH1):c.454-3_454delinsT
NM_000249.4(MLH1):c.454-7T>A
NM_000249.4(MLH1):c.455T>G (p.Val152Gly) rs1559523949
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del)
NM_000249.4(MLH1):c.538_545+27delinsTG
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>C
NM_000249.4(MLH1):c.545+1_545+6del
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
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>C
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
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.678-18_685del
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp)
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.71_75del (p.Val24fs) rs1553637293
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)
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)
NM_000249.4(MLH1):c.770_790+82delinsA
NM_000249.4(MLH1):c.783C>T (p.Phe261=) rs768119795
NM_000249.4(MLH1):c.789_790+4del
NM_000249.4(MLH1):c.790+1_790+2delinsTA
NM_000249.4(MLH1):c.790+3A>C
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
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
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
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
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del)
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_000251.3(MSH2):c.1003A>C (p.Thr335Pro)
NM_000251.3(MSH2):c.1003A>G (p.Thr335Ala)
NM_000251.3(MSH2):c.1013_1014delinsAT (p.Gly338Asp)
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) rs587782374
NM_000251.3(MSH2):c.1044_1045delinsCT (p.Gln348_Pro349delinsHisSer)
NM_000251.3(MSH2):c.1046C>A (p.Pro349His)
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys) rs753075410
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
NM_000251.3(MSH2):c.1076+1G>C rs267607940
NM_000251.3(MSH2):c.1076+2T>C
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.108_159del (p.Phe37fs)
NM_000251.3(MSH2):c.1103_1138del (p.Glu368_Leu380delinsVal)
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
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)
NM_000251.3(MSH2):c.1380_1386+11del
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+2T>G
NM_000251.3(MSH2):c.1387-1G>A rs267607956
NM_000251.3(MSH2):c.1387-2012C>T
NM_000251.3(MSH2):c.1427_1510+38delinsATTTGATCCTAATC
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
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.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1659_1661+8del
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
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1661G>T (p.Ser554Ile)
NM_000251.3(MSH2):c.1662-1G>T
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.1759G>A (p.Gly587Ser) rs63751140
NM_000251.3(MSH2):c.1760-2A>G rs1573566175
NM_000251.3(MSH2):c.1799C>A (p.Ala600Asp)
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)
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)
NM_000251.3(MSH2):c.182_211+1delinsC
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=)
NM_000251.3(MSH2):c.1998_2005+11del
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.2006-1_2012del
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)
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr) rs63751232
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile)
NM_000251.3(MSH2):c.2019_2021del (p.Gly674del)
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2021G>T (p.Gly674Val)
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
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro) rs1667302018
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) rs914610419
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp) rs1060502020
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2079T>G (p.Cys693Trp)
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.2091T>G (p.Cys697Trp)
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu) rs876658251
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.211+1G>A
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro) rs138465383
NM_000251.3(MSH2):c.2210+1G>T rs267608002
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.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2211-3_2211-2delinsG
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.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
NM_000251.3(MSH2):c.2402A>C (p.His801Pro) rs1114167875
NM_000251.3(MSH2):c.2458+1G>C
NM_000251.3(MSH2):c.2458+976A>G rs2104420229
NM_000251.3(MSH2):c.2458+985A>G
NM_000251.3(MSH2):c.2459-11A>G
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
NM_000251.3(MSH2):c.2459-5_2460del
NM_000251.3(MSH2):c.2459-954A>G rs2104421991
NM_000251.3(MSH2):c.2520_2524delinsGCTAAAC (p.Ile841fs)
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.2641G>T (p.Glu881Ter)
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
NM_000251.3(MSH2):c.366+1dup
NM_000251.3(MSH2):c.366+2T>C rs1558457533
NM_000251.3(MSH2):c.366+2T>G
NM_000251.3(MSH2):c.366+2_366+5delinsCA
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.445G>C (p.Gly149Arg)
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.560T>A (p.Leu187His)
NM_000251.3(MSH2):c.569T>C (p.Leu190Pro) rs1114167878
NM_000251.3(MSH2):c.572T>G (p.Leu191Arg)
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.593A>C (p.Glu198Ala)
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
NM_000251.3(MSH2):c.646-19_661del
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
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000251.3(MSH2):c.792+2T>A
NM_000251.3(MSH2):c.792+2T>C rs587782408
NM_000251.3(MSH2):c.793-1G>C
NM_000251.3(MSH2):c.793-1G>T
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
NM_000251.3(MSH2):c.942G>T (p.Gln314His) rs587779197
NM_000251.3(MSH2):c.943-10_943-2del
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000256.3(MYBPC3):c.107del (p.Ala36fs)
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1227-39_1263del
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.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2291_2308+3del
NM_000256.3(MYBPC3):c.2413+2T>A
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.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.3190+5G>C
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.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3593_3627+20del
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)
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)
NM_000256.3(MYBPC3):c.821+2dup
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)
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
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)
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.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.2539_2541del (p.Lys847del) rs397516155
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.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) rs397516165
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.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs) rs886038901
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
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.4259G>A (p.Arg1420Gln) rs397516207
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.5134C>T (p.Arg1712Trp) rs121913650
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.676G>A (p.Ala226Thr) rs1057517773
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_000264.5(PTCH1):c.1068-1G>T rs1085307752
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1348-1G>T
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.5(PTCH1):c.1503+2T>A
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
NM_000264.5(PTCH1):c.201+1G>A rs1131690967
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
NM_000264.5(PTCH1):c.2887+2T>C rs1839273008
NM_000264.5(PTCH1):c.3168+3G>C
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
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
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.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.945+5G>A rs1588609575
NM_000267.3(NF1):c.2252delG rs1597713259
NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)
NM_000268.4(NF2):c.1447-1G>T
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.240+1G>C rs587776562
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.363+2T>C rs2146873271
NM_000268.4(NF2):c.448-1G>T
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_000271.5(NPC1):c.3754+1del rs1835896772
NM_000276.4(OCRL):c.1713+2T>G
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.974G>A (p.Arg325Gln) rs1727420867
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
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.545_546insALU
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs)
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs)
NM_000314.8(PTEN):c.1026+1del rs398123313
NM_000314.8(PTEN):c.1027-1852A>G
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)
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser)
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del) rs1554893831
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser)
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.209+2047A>G
NM_000314.8(PTEN):c.209+2T>G rs878853937
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.210-12C>G
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.253+5_253+13del
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.275A>T (p.Asp92Val)
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
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.313T>G (p.Cys105Gly)
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) rs786204858
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)
NM_000314.8(PTEN):c.353A>C (p.His118Pro)
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.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)
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.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.395G>T (p.Gly132Val) 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)
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.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.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.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)
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+3_634+6del rs1589659775
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.69_74del (p.22DL[1])
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn)
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.761A>C (p.Lys254Thr) rs1114167633
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
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.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_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.1389+4A>C rs1131690879
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.2107-1G>A rs587778860
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.2490-28T>G
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.607+2dup rs1131690895
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.861+2T>C
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.2632C>T (p.Arg878Cys) rs199473168
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.2788-2del
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
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>A
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.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.482+1G>C
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu)
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
NM_000335.5(SCN5A):c.998+1G>T
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+3A>G rs1554817334
NM_000368.5(TSC1):c.1263+37C>T
NM_000368.5(TSC1):c.1997+2T>G rs2131806725
NM_000368.5(TSC1):c.210+1G>C
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2813+1G>C
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)
NM_000368.5(TSC1):c.659T>A (p.Val220Asp)
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
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)
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)
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)
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.401A>G (p.Tyr134Cys) rs121918075
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.3491G>C (p.Arg1164Thr)
NM_000388.4(CASR):c.1608+1G>A
NM_000388.4(CASR):c.197G>A (p.Arg66His) rs1276839362
NM_000388.4(CASR):c.1A>C (p.Met1Leu)
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys) rs2074935748
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.649G>T (p.Asp217Tyr) rs201091657
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.17+2T>A
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
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_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
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.460C>G (p.His154Asp) rs878853988
NM_000455.5(STK11):c.464+1G>C
NM_000455.5(STK11):c.465-21_465del
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)
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)
NM_000455.5(STK11):c.597+1G>T rs886039554
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
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
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)
NM_000455.5(STK11):c.920+2_920+31del
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu)
NM_000465.2:c.1764_1765insALU
NM_000465.2:c.1776_1777insL1
NM_000465.4(BARD1):c.1306_1314+7del rs1694934695
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1395+1dup rs1553619688
NM_000465.4(BARD1):c.1396-1G>A rs2106077292
NM_000465.4(BARD1):c.1568+1G>T
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.1568+2dup
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.159-1G>T rs879254139
NM_000465.4(BARD1):c.1676_1677+2del
NM_000465.4(BARD1):c.1677+1G>A
NM_000465.4(BARD1):c.1677+2T>A
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
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.1904-2A>T rs864622239
NM_000465.4(BARD1):c.1904-2del rs876659560
NM_000465.4(BARD1):c.1934_2001+52del rs1574706516
NM_000465.4(BARD1):c.1961del (p.Pro654fs)
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2001+2T>C
NM_000465.4(BARD1):c.2002-15_2003del
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)
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) rs587782348
NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter)
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)
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
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)
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs)
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
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.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000492.3(CFTR):c.2909_2924dup
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.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.1538A>G (p.Asp513Gly) rs397508225
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.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
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)
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)
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.3963+1G>C rs672601314
NM_000492.4(CFTR):c.3963+1G>T
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.490-1G>C
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
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)
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-156C>T rs879254364
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
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)
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly)
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser)
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
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.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla)
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
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>A (p.Gly478Arg)
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.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
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.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
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.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1988-2A>G rs879255101
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser)
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2312-2A>C
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.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp)
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del)
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala)
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
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>T (p.Cys160Phe) rs879254541
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala)
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)
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
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.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer)
NM_000527.5(LDLR):c.670G>C (p.Asp224His)
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
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.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr)
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)
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.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.600dup (p.Lys201fs) rs1553259529
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_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+1del rs2128746842
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
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+2dup
NM_000535.7(PMS2):c.19_23+26delinsCC
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
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.209A>T (p.Asp70Val)
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2102A>G (p.His701Arg) rs1583298873
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2174+2del
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-2A>G
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
NM_000535.7(PMS2):c.24-2A>G rs1583419860
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs)
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.250+1G>C
NM_000535.7(PMS2):c.250+2T>G
NM_000535.7(PMS2):c.251-11CT[2]
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)
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.537+1G>A 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
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
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>C rs745487791
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+5G>A rs939641251
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
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp) rs1583364867
NM_000535.7(PMS2):c.815del (p.Phe272fs)
NM_000535.7(PMS2):c.899_903+5delinsTAACAC
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
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.904-1G>T
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
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup) rs1555801872
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser) rs1001637675
NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly)
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
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)
NM_000545.8(HNF1A):c.955+2T>C
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)
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
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.374C>A (p.Thr125Lys) rs786201057
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
NM_000546.6(TP53):c.376T>C (p.Tyr126His)
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
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.451_452delinsTT (p.Pro151Phe) rs1597370899
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.466C>G (p.Arg156Gly) rs563378859
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
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.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.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.535C>G (p.His179Asp) 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
NM_000546.6(TP53):c.559+1G>A rs1131691042
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.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.579T>A (p.His193Gln) rs1597368777
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.653T>A (p.Val218Glu)
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.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
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.718A>C (p.Ser240Arg) rs1567549584
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)
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.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.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.6(TP53):c.781_782+8del
NM_000546.6(TP53):c.782+2T>A
NM_000546.6(TP53):c.782+2T>G rs876659076
NM_000546.6(TP53):c.783-2A>T rs1060501207
NM_000546.6(TP53):c.783-4_792del
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.814G>T (p.Val272Leu) rs121912657
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.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.830G>T (p.Cys277Phe) rs763098116
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)
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
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.96+2T>G
NM_000546.6(TP53):c.96+2dup rs1131691015
NM_000546.6(TP53):c.987_993+2delinsTA
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)
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu)
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1717-1G>C
NM_000548.5(TSC2):c.1717-3C>A
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
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.2087G>A (p.Cys696Tyr) rs45486196
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.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3814+2T>G
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)
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)
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.599+2T>C
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro) rs1596278377
NM_000548.5(TSC2):c.775-2A>G
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
NM_000548.5(TSC2):c.848+2T>A
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)
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)
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.4(VHL):c.236G>C (p.Arg79Pro)
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.251T>A (p.Val84Glu)
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)
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
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.341-3T>G rs1131690965
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
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)
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
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.485G>A (p.Cys162Tyr) rs397516444
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>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)
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
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)
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
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_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
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)
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)
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.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.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile)
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
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_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)
NM_000975.5(RPL11):c.508-1G>A
NM_000975.5(RPL11):c.508-9_508-5del
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.165-16_166del
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001002295.2(GATA3):c.895C>T (p.Arg299Trp) rs2131501111
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)
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.3032G>A (p.Gly1011Asp)
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.4073-1G>A
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_001009944.3(PKD1):c.2854-1G>T
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)
NM_001015877.2(PHF6):c.965A>C (p.Tyr322Ser)
NM_001017420.3(ESCO2):c.861+1_861+6del
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
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.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)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.411+2_411+6del
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.312+1G>C
NM_001029.5(RPS26):c.313-2A>G
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)
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
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
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.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala)
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.14861C>G (p.Ala4954Gly)
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)
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_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.2816T>C (p.Leu939Pro)
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)
NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs) rs1834650809
NM_001042424.3(NSD2):c.2291G>T (p.Cys764Phe)
NM_001042432.2(CLN3):c.1056+1G>T rs1217725909
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
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261-5_1262del
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1393-1555C>G
NM_001042492.3(NF1):c.1393-1G>T rs1131691131
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1528-1G>A rs876660595
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
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.1722-14_1722-5del rs2144015153
NM_001042492.3(NF1):c.1722-1G>A rs1567845818
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) 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.1845+2T>G
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.205-3_205-2del
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
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
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.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
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)
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.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.2798T>C (p.Leu933Pro) rs1555614342
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.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
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
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3496+1G>A rs2067138719
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg)
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.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
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.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+1dup
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
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.4370A>G (p.Lys1457Arg) rs1555618656
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4430+1G>T rs773151680
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4577+1del
NM_001042492.3(NF1):c.4724+2T>G rs1597748995
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
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.4877A>C (p.His1626Pro)
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr) rs1131691123
NM_001042492.3(NF1):c.5268+5_5268+6del
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001042492.3(NF1):c.5610-2A>C
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
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
NM_001042492.3(NF1):c.6007-2_6007del rs1597842196
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.6148-1G>T
NM_001042492.3(NF1):c.6343C>A (p.Pro2115Thr)
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile) rs1555534770
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.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+31T>G
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg)
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6704+1G>C rs1060500376
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
NM_001042492.3(NF1):c.6819+1G>C rs1555534964
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
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.7169T>G (p.Leu2390Trp) rs1597851443
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>T rs1555608928
NM_001042492.3(NF1):c.7458-1G>T
NM_001042492.3(NF1):c.7968_7970+2delinsACAC rs1597867032
NM_001042492.3(NF1):c.7970+2T>C
NM_001042492.3(NF1):c.7971-2A>C
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
NM_001042492.3(NF1):c.8113+2T>G rs1597868312
NM_001042492.3(NF1):c.8114-1G>C rs1597868727
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042492.3(NF1):c.889-1G>T rs587781517
NM_001042492.3(NF1):c.889-1del
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.1102+1G>T rs587781337
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.1393-2_1393-1del rs1570346782
NM_001048174.2(MUTYH):c.1430del (p.Cys477fs)
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.1450del (p.Gln484fs)
NM_001048174.2(MUTYH):c.1561del (p.Gln521fs)
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.265-2A>G
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615
NM_001048174.2(MUTYH):c.304+2T>C
NM_001048174.2(MUTYH):c.305-2A>G rs863224452
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val) rs864622450
NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)
NM_001048174.2(MUTYH):c.378+1del
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
NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=) rs876658641
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
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.622G>A (p.Asp208Asn) rs1570409700
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
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.740_745dup (p.Gly248_Asp249insAlaGly)
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.914-1G>A
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_001077365.2(POMT1):c.141T>G (p.Tyr47Ter)
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077653.2(TBX20):c.130C>T (p.Gln44Ter)
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter)
NM_001077653.2(TBX20):c.205G>T (p.Gly69Ter)
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.1175dup (p.Tyr392Ter)
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)
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080449.3(DNA2):c.1983+1G>T rs1415432326
NM_001080453.3(INTS1):c.1711+1G>A
NM_001081550.2(THOC2):c.2818G>A (p.Glu940Lys)
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
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp)
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys)
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp)
NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu)
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)
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.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.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)
NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer)
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)
NM_001111125.3(IQSEC2):c.3859C>T (p.Gln1287Ter)
NM_001111125.3(IQSEC2):c.4002T>A (p.Tyr1334Ter)
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1134+1G>T
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp)
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.1310G>C (p.Arg437Pro)
NM_001114753.3(ENG):c.1312-2A>G
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-2del
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro)
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.1686+1G>C
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
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+5G>A rs1060501417
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
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
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
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)
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
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001122630.2(CDKN1C):c.788-1G>A rs1848884556
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs) rs1555537637
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001127178.3(PIGG):c.760-1G>A
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu)
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
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
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5941-2A>G rs1555731992
NM_001127511.3(APC):c.-191T>G
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG rs1580995904
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala) rs1755063375
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
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_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)
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1925T>G (p.Leu642Arg) rs2042448519
NM_001136157.2(OTUD5):c.1543C>T (p.Arg515Trp)
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_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
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)
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)
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys)
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)
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)
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.841C>A (p.Pro281Thr) rs1553549660
NM_001170629.2(CHD8):c.2730+1G>C
NM_001170629.2(CHD8):c.3308-1G>A rs1888129073
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg) rs1553547885
NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs) rs1553544102
NM_001173990.3(TMEM216):c.326dup (p.Gln110fs)
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro) rs772837341
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001197104.2(KMT2A):c.3539G>A (p.Gly1180Asp)
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe) rs1950203796
NM_001197104.2(KMT2A):c.8570T>G (p.Leu2857Arg)
NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg) rs138340807
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.4268T>C (p.Ile1423Thr) rs1658149520
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.532+1G>A
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001242896.3(DEPDC5):c.3805+1G>T
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.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_001253852.3(AP4B1):c.470-2A>C
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_001258038.2(SPRY1):c.173_174insAG (p.Val59fs) rs1725164851
NM_001258271.2(MLH1):c.1896+834del
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.100742dup (p.Thr33582fs)
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter)
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter)
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.10219del (p.Tyr3407fs)
NM_001267550.2(TTN):c.102234_102235del (p.Arg34079fs)
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)
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs) rs2088191243
NM_001267550.2(TTN):c.102876_102877delinsAT (p.Tyr34292_Lys34293delinsTer)
NM_001267550.2(TTN):c.103117_103124del (p.Glu34373fs)
NM_001267550.2(TTN):c.103303del (p.Arg34435fs)
NM_001267550.2(TTN):c.103322_103323dup (p.Ala34442fs)
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
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.104170_104174del (p.Lys34724fs) rs2154134297
NM_001267550.2(TTN):c.104197dup (p.Ile34733fs)
NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter)
NM_001267550.2(TTN):c.104393del (p.Lys34798fs)
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104573del (p.Ile34858fs)
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)
NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter)
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs)
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs)
NM_001267550.2(TTN):c.11311+1G>T rs1553963537
NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter)
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
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.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter) rs1064793411
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
NM_001267550.2(TTN):c.13181_13182del (p.Asn4394fs)
NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter)
NM_001267550.2(TTN):c.13697_13701del (p.Gln4566fs)
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter) rs1554023044
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs)
NM_001267550.2(TTN):c.41202del (p.Phe13734fs)
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs) rs1436937190
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
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.41581G>T (p.Glu13861Ter) rs2154230108
NM_001267550.2(TTN):c.42154del (p.Ile14052fs)
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs)
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs)
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs) rs2060106818
NM_001267550.2(TTN):c.42786del (p.Trp14262fs)
NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs)
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.43538del (p.Ser14513fs)
NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44046_44047del (p.His14682fs)
NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs)
NM_001267550.2(TTN):c.44143del (p.Leu14715fs)
NM_001267550.2(TTN):c.44149del (p.Thr14717fs)
NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs)
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44831del (p.Phe14944fs)
NM_001267550.2(TTN):c.44840del (p.Pro14947fs)
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter) rs2058478213
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)
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45433_45445delinsGG (p.Lys15145fs)
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.45617-1G>C
NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs)
NM_001267550.2(TTN):c.46337_46338del (p.Arg15446fs)
NM_001267550.2(TTN):c.46344dup (p.Ile15449fs)
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs) rs2154210696
NM_001267550.2(TTN):c.46421_46422del (p.Phe15474fs)
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer) rs1447249014
NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter)
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter) rs2057499255
NM_001267550.2(TTN):c.48119del (p.Arg16040fs)
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
NM_001267550.2(TTN):c.48264del (p.Gly16089fs) rs2154208052
NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter)
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
NM_001267550.2(TTN):c.48638+2T>G
NM_001267550.2(TTN):c.48760+1G>T
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter)
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.49378dup (p.Ser16460fs)
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
NM_001267550.2(TTN):c.49560dup (p.Tyr16521fs)
NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter)
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
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)
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter)
NM_001267550.2(TTN):c.50330del (p.Asn16777fs)
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter) rs72677249
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
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)
NM_001267550.2(TTN):c.50859del (p.Asp16952_Cys16953insTer)
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter) rs794729269
NM_001267550.2(TTN):c.51129dup (p.Val17044fs)
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr) rs2154198963
NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter)
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter)
NM_001267550.2(TTN):c.51528del (p.Ser17177fs)
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)
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.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
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)
NM_001267550.2(TTN):c.53535del (p.Cys17845fs)
NM_001267550.2(TTN):c.53543del (p.Pro17848fs)
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter)
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs)
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54259del (p.Asp18087fs)
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs) rs2054384043
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs)
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.54812-2A>T
NM_001267550.2(TTN):c.54976_54979del (p.Asp18326fs)
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs) rs2154193431
NM_001267550.2(TTN):c.55269+1G>A
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
NM_001267550.2(TTN):c.55492del (p.Leu18498fs)
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)
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
NM_001267550.2(TTN):c.56440_56443del (p.Gly18814fs)
NM_001267550.2(TTN):c.56473del (p.Arg18825fs)
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.56641del (p.Leu18881fs)
NM_001267550.2(TTN):c.56720del (p.Glu18907fs)
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.56940_56957delinsT (p.Ala18981fs)
NM_001267550.2(TTN):c.56978dup (p.Phe18994fs)
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57262+1G>A
NM_001267550.2(TTN):c.57277del (p.Gln19093fs)
NM_001267550.2(TTN):c.57334del (p.Ile19112fs)
NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter)
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs)
NM_001267550.2(TTN):c.58157dup (p.Thr19387fs)
NM_001267550.2(TTN):c.58290dup (p.Asp19431Ter)
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter)
NM_001267550.2(TTN):c.58788_58795dup (p.Thr19599delinsAsnTer)
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.58925del (p.Pro19642fs)
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
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)
NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs)
NM_001267550.2(TTN):c.59605dup (p.Ser19869fs)
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
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.60716del (p.Gly20239fs)
NM_001267550.2(TTN):c.60837_60840delinsAA (p.Val20280fs)
NM_001267550.2(TTN):c.60902del (p.Ser20301fs) rs1553643140
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61612del (p.Glu20538fs)
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs) rs886039084
NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter)
NM_001267550.2(TTN):c.61855del (p.Val20619fs)
NM_001267550.2(TTN):c.61890del (p.Asn20631fs)
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
NM_001267550.2(TTN):c.62197_62198insC (p.Cys20733fs)
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62627del (p.Val20876fs) rs1553640190
NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter) rs1306891128
NM_001267550.2(TTN):c.63142_63143del (p.Glu21048fs)
NM_001267550.2(TTN):c.63467del (p.Pro21156fs)
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter) rs2049307995
NM_001267550.2(TTN):c.63898_63899del (p.His21300fs)
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64243del (p.Trp21415fs)
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
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64468del (p.Val21490fs)
NM_001267550.2(TTN):c.64586_64587del (p.Val21529fs)
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
NM_001267550.2(TTN):c.64849del (p.Thr21617fs)
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter)
NM_001267550.2(TTN):c.65324dup (p.Leu21776fs)
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65449del (p.Glu21817fs)
NM_001267550.2(TTN):c.65536del (p.Ser21846fs)
NM_001267550.2(TTN):c.65704_65712delinsT (p.Gly21901_Thr21902insTer)
NM_001267550.2(TTN):c.66059_66060del (p.Leu22020fs)
NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter)
NM_001267550.2(TTN):c.66176dup (p.Cys22059fs)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs)
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter)
NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68746_68749dup (p.Arg22917delinsAsnTer)
NM_001267550.2(TTN):c.68862dup (p.Gly22955fs)
NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)
NM_001267550.2(TTN):c.69078del (p.Phe23026fs)
NM_001267550.2(TTN):c.69131del (p.Pro23044fs) rs2154173603
NM_001267550.2(TTN):c.69131dup (p.Gly23045fs)
NM_001267550.2(TTN):c.69244del (p.Thr23082fs)
NM_001267550.2(TTN):c.69422_69423delinsAAAAGGA (p.Gly23141fs)
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)
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)
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer)
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs)
NM_001267550.2(TTN):c.70699dup (p.Tyr23567fs)
NM_001267550.2(TTN):c.70794del (p.Glu23599fs) rs1553612904
NM_001267550.2(TTN):c.70890_70891del (p.Pro23631fs)
NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639delinsArgAsnTer)
NM_001267550.2(TTN):c.71007del (p.Gly23670fs)
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.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)
NM_001267550.2(TTN):c.71491_71492insT (p.Gly23831fs)
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71661del (p.Lys23887fs)
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
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.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter)
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)
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs)
NM_001267550.2(TTN):c.73385_73386delinsC (p.Trp24462fs)
NM_001267550.2(TTN):c.73469dup (p.Asn24490fs)
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74372del (p.Lys24789_Leu24790insTer)
NM_001267550.2(TTN):c.74381_74382del (p.Ala24794fs)
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter)
NM_001267550.2(TTN):c.74901del (p.Lys24967fs)
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
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)
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) rs1553603364
NM_001267550.2(TTN):c.75507_75508del (p.Ser25170fs)
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs)
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
NM_001267550.2(TTN):c.7557del (p.Gly2520fs)
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.76238_76239del (p.Lys25413fs)
NM_001267550.2(TTN):c.76240dup (p.Val25414fs) rs1707514832
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)
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)
NM_001267550.2(TTN):c.76403del (p.Val25468fs)
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)
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76779del (p.Phe25593fs)
NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter)
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer)
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77183del (p.Ser25728fs)
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter)
NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter)
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)
NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter)
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.7766del (p.Lys2588_Leu2589insTer)
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78425del (p.Asn26142fs)
NM_001267550.2(TTN):c.78489dup (p.Ile26164fs)
NM_001267550.2(TTN):c.78563_78566dup (p.Glu26189delinsAspTer)
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs) rs1706342425
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.79275_79276del (p.Asp26427fs)
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.79712T>G (p.Leu26571Ter)
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter) rs1705879851
NM_001267550.2(TTN):c.79780del (p.Asp26595fs)
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer) rs2154165475
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer) rs2154165199
NM_001267550.2(TTN):c.80328del (p.Ala26777fs)
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs) rs1575674631
NM_001267550.2(TTN):c.80371dup (p.Asp26791fs)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter)
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80855_80856dup (p.Thr26953Ter)
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter)
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.81522_81529del (p.Pro27174_Gly27175insTer)
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter)
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82310_82311del (p.Gly27437fs)
NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter)
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
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)
NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)
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)
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs) rs1575633082
NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter)
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs) rs2154160413
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.8442del (p.Phe2814fs)
NM_001267550.2(TTN):c.84476del (p.Gly28159fs) rs1553564694
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) rs1553564589
NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter)
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter) rs2154159715
NM_001267550.2(TTN):c.84819del (p.Trp28273fs) rs2154159514
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs) rs2154159007
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)
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs)
NM_001267550.2(TTN):c.86413_86417delinsATGG (p.Asp28805fs)
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
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)
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
NM_001267550.2(TTN):c.87296dup (p.Asn29099fs)
NM_001267550.2(TTN):c.87381_87424dup (p.Thr29142delinsLysLeuSerLeuThrLeuLeuCysTer)
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
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)
NM_001267550.2(TTN):c.87835del (p.Arg29279fs) rs2154155616
NM_001267550.2(TTN):c.87841_87842del (p.Ser29281fs)
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.88000del (p.Asp29334fs)
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs) rs2154155280
NM_001267550.2(TTN):c.88184del (p.Phe29395fs) rs1553551651
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88636_88637del (p.Val29546fs)
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)
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.89178C>G (p.Tyr29726Ter)
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89288del (p.Gly29763fs) rs1575534208
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.90286_90292del (p.Gln30096fs)
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
NM_001267550.2(TTN):c.90628del (p.Val30210fs) rs2154151163
NM_001267550.2(TTN):c.90721dup (p.Ser30241fs)
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90827dup (p.Cys30276fs)
NM_001267550.2(TTN):c.90900_90901del (p.Arg30300fs)
NM_001267550.2(TTN):c.90935del (p.Val30312fs)
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter) rs1553538469
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
NM_001267550.2(TTN):c.91352dup (p.Ser30452fs)
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.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)
NM_001267550.2(TTN):c.91859del (p.Pro30620fs)
NM_001267550.2(TTN):c.91875del (p.Pro30626fs) rs757451467
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)
NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter)
NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter)
NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter)
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.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter) rs2154147529
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.93735del (p.Lys31246_Val31247insTer)
NM_001267550.2(TTN):c.9395del (p.Gly3132fs)
NM_001267550.2(TTN):c.94167del (p.Phe31389fs)
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter)
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94298del (p.Tyr31433fs)
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter)
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
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)
NM_001267550.2(TTN):c.95452_95453delinsATATGCCAT (p.Gly31818fs)
NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter)
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
NM_001267550.2(TTN):c.95944del (p.Ser31982fs)
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)
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97212dup (p.Gly32405fs)
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.97405_97408del (p.Glu32469fs)
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs) rs1553515430
NM_001267550.2(TTN):c.97492+1G>C rs727505319
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)
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter) rs1301441435
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
NM_001267550.2(TTN):c.98074del (p.Thr32692fs)
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.9829C>T (p.Gln3277Ter)
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98628del (p.Phe32876fs)
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.99023_99026del (p.Leu33008fs)
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99081dup (p.Lys33028Ter)
NM_001267550.2(TTN):c.99425_99428del (p.Ile33142fs)
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter)
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.9979_9980del (p.Val3328fs)
NM_001267550.2(TTN):c.99859dup (p.Ile33287fs)
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
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_001273.5(CHD4):c.4909+1G>A
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
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_001277115.2(DNAH11):c.10166-1G>C
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.2274+1del
NM_001277115.2(DNAH11):c.4817+1_4817+16del
NM_001277115.2(DNAH11):c.7812-2A>G
NM_001278116.2(L1CAM):c.1A>G (p.Met1Val)
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_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_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_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)
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His)
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg) rs1554476282
NM_001317778.2(SFTPC):c.435G>A (p.Gln145=)
NM_001317778.2(SFTPC):c.476_477del (p.Glu159fs)
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_001320.7(CSNK2B):c.73-2A>G rs1554169967
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
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001330260.2(SCN8A):c.1228G>A (p.Val410Met)
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.5279T>C (p.Met1760Thr) rs1555231012
NM_001332.4(CTNND2):c.121del (p.Asp41fs)
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)
NM_001348716.2(KDM6B):c.138-1G>A rs2078522740
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.1256dup (p.Gly420fs) rs1553794464
NM_001348800.3(ZBTB20):c.1739G>T (p.Cys580Phe)
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_001352027.3(PHF21A):c.1995del (p.Ser666fs) rs1554969688
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
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)
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.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.536_543+5inv
NM_001356.5(DDX3X):c.878C>T (p.Ser293Phe)
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
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)
NM_001365902.3(NFIX):c.28-16G>A
NM_001367561.1(DOCK7):c.3936G>A (p.Thr1312=) rs1553163123
NM_001367624.2(ZNF469):c.6297_6298del (p.Gly2100_Asp2101insTer)
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
NM_001369.3(DNAH5):c.8010+1G>A
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
NM_001369268.1(ACAN):c.6127G>T (p.Glu2043Ter) rs267604368
NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro) rs1114167480
NM_001370259.2(MEN1):c.1049+1G>C rs1114167489
NM_001370259.2(MEN1):c.1051T>A (p.Tyr351Asn)
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)
NM_001370259.2(MEN1):c.124G>C (p.Gly42Arg)
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.1262G>A (p.Cys421Tyr) rs386134249
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.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.1355G>T (p.Arg452Leu)
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.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu) rs1114167517
NM_001370259.2(MEN1):c.1682T>G (p.Met561Arg)
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del) rs1555163115
NM_001370259.2(MEN1):c.1710del (p.Asn571fs)
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)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.431T>G (p.Phe144Cys)
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)
NM_001370259.2(MEN1):c.541C>G (p.His181Asp)
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.654G>T (p.Arg218=)
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.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
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.841G>A (p.Gly281Arg) rs1114167493
NM_001370259.2(MEN1):c.851C>T (p.Ala284Val)
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>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)
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)
NM_001371727.1(GABRB2):c.626A>C (p.Gln209Pro) rs1554094278
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter)
NM_001371904.1(APOA5):c.494dup (p.Val166fs)
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)
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)
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln) rs151344530
NM_001372066.1(TFAP2A):c.771-2_771-1del
NM_001374353.1(GLI2):c.3452_3453del (p.Gln1151fs)
NM_001374353.1(GLI2):c.3638del (p.Ala1213fs) rs1553479405
NM_001374736.1(DST):c.17680+1G>A
NM_001374828.1(ARID1B):c.4479+5G>A
NM_001374828.1(ARID1B):c.6377del (p.Lys2126fs)
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.626G>A (p.Arg209Gln) rs1131692261
NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu) rs1852552180
NM_001375380.1(EBF3):c.983T>A (p.Leu328His)
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)
NM_001376.5(DYNC1H1):c.4366G>A (p.Glu1456Lys)
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.6268C>T (p.Leu2090Phe)
NM_001376.5(DYNC1H1):c.6989G>A (p.Gly2330Glu) rs1555410010
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377303.1(L3MBTL1):c.2041G>T (p.Glu681Ter) rs2019606024
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.736G>A (p.Glu246Lys) rs1553666546
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.11547+1G>T
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)
NM_001378454.1(ALMS1):c.451-2A>G
NM_001378615.1(CC2D2A):c.4497-2A>G rs1553845569
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)
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.55+1G>A
NM_001382241.1(TNPO2):c.466G>T (p.Asp156Tyr)
NM_001385012.1(NBEA):c.526+3A>G
NM_001386298.1(CIC):c.6764A>G (p.Asp2255Gly)
NM_001386298.1(CIC):c.6767+2T>C rs1555773152
NM_001386393.1(PANK2):c.651+1G>C rs1390184629
NM_001393504.1(MAST3):c.1738G>C (p.Val580Leu)
NM_001429.4(EP300):c.3502-2A>G rs2059089321
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
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.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1677-1G>C
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2811+1G>A
NM_001458.5(FLNC):c.2930-1G>A
NM_001458.5(FLNC):c.4457-1G>T
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001478.5(B4GALNT1):c.384-1G>A
NM_001492.6(GDF1):c.787_814del (p.Pro263fs) rs1417119878
NM_001493.3(GDI1):c.819+1G>A rs1557198821
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.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_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_001709.5(BDNF):c.502G>T (p.Glu168Ter) rs1554931219
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)
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) rs1555165501
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu)
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.3032G>A (p.Gly1011Glu) rs1555303010
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu) rs1555302454
NM_001846.4(COL4A2):c.2840G>A (p.Gly947Asp)
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
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)
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001943.5(DSG2):c.2001+1G>T
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
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_001943.5(DSG2):c.523+1G>C rs553299589
NM_001958.5(EEF1A2):c.1084G>T (p.Asp362Tyr)
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
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.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3724+1G>A
NM_001999.4(FBN2):c.3724+2T>G
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)
NM_001999.4(FBN2):c.4346-2A>C
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.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.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1810-2A>T
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.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)
NM_002292.4(LAMB2):c.4923+1G>T
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)
NM_002317.7(LOX):c.210_226dup (p.Val76fs)
NM_002317.7(LOX):c.295_299dup (p.Ala101fs)
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_002317.7(LOX):c.841del (p.Arg281fs)
NM_002356.7(MARCKS):c.616_632del (p.Glu206fs) rs1554191995
NM_002382.5(MAX):c.171+2T>A rs786203009
NM_002382.5(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002382.5(MAX):c.348del (p.Ser117fs)
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.14del (p.Lys5fs) rs1749186228
NM_002439.5(MSH3):c.1568+1G>C
NM_002439.5(MSH3):c.1654-1G>C
NM_002439.5(MSH3):c.1764-2A>C
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
NM_002439.5(MSH3):c.2253+3_2253+7del rs1488467945
NM_002439.5(MSH3):c.2254-1G>A
NM_002439.5(MSH3):c.2319-2A>G rs1197719947
NM_002439.5(MSH3):c.237+1G>A
NM_002439.5(MSH3):c.2435+2T>C rs1580045730
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
NM_002439.5(MSH3):c.2988_3000+893del rs1580091639
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_002439.5(MSH3):c.358+1G>A rs2112801912
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_002439.5(MSH3):c.57del (p.Arg20fs)
NM_002454.3(MTRR):c.1953-6_1953-2del
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.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+9del rs2129716262
NM_002485.5(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+2T>G
NM_002485.5(NBN):c.172-1_176del
NM_002485.5(NBN):c.172-2A>G
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+1G>C
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2070+2T>G rs786203223
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
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)
NM_002485.5(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.321-2A>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
NM_002485.5(NBN):c.481-1G>A
NM_002485.5(NBN):c.481-2A>G rs751567476
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.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002485.5(NBN):c.93del (p.Cys31fs)
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+1del
NM_002485.5(NBN):c.994+2T>C rs1586075690
NM_002485.5(NBN):c.994G>A (p.Gly332Arg) rs1437392838
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.9del (p.Lys3fs)
NM_002490.6(NDUFA6):c.281_284del (p.Ile94fs) rs768463498
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
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)
NM_002578.5(PAK3):c.276+5G>A rs1569398792
NM_002585.4(PBX1):c.760T>C (p.Ser254Pro) rs1669419321
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) rs797044887
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002693.3(POLG):c.3104+1G>T
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002709.3(PPP1CB):c.755A>G (p.Asp252Gly)
NM_002715.4(PPP2CA):c.811A>G (p.Asn271Asp)
NM_002734.5(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
NM_002734.5(PRKAR1A):c.973+1G>C
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs)
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_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
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter) rs771077929
NM_002878.4(RAD51D):c.144+1dup
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.2del (p.Met1fs)
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)
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.5del (p.Gly2fs)
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.738+1G>A 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.774dup (p.Arg259fs) rs1555567170
NM_002878.4(RAD51D):c.801del (p.Trp268fs) rs2142411904
NM_002878.4(RAD51D):c.808_857del (p.Phe270fs)
NM_002878.4(RAD51D):c.82+1G>A rs786202788
NM_002878.4(RAD51D):c.82+2T>G rs1597878498
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
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
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)
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002890.3(RASA1):c.2011+1G>C
NM_002890.3(RASA1):c.2925+1dup
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)
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.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.287-3C>G rs1553177772
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.331C>G (p.Leu111Val) rs2078005090
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro) rs1570948631
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.415C>T (p.Leu139Phe) rs397516834
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
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.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg)
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
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.642+1G>C rs1131691052
NM_003000.3(SDHB):c.642G>T (p.Gln214His) rs1278834014
NM_003000.3(SDHB):c.643-1G>A rs1553177292
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003000.3(SDHB):c.65_72+16del
NM_003000.3(SDHB):c.688C>G (p.Arg230Gly)
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
NM_003000.3(SDHB):c.746G>T (p.Cys249Phe)
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
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)
NM_003000.3(SDHB):c.806del (p.Met269fs)
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
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.21-2A>G rs1131691062
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
NM_003001.5(SDHC):c.242-2A>G
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr) rs1571899020
NM_003001.5(SDHC):c.452_455delinsATGA (p.Ser151_Gly152delinsTyrGlu)
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.77+1G>A rs1558164647
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
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.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.278_280dup (p.Tyr93dup) rs121908983
NM_003002.4(SDHD):c.305A>G (p.His102Arg) rs104894302
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)
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) 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)
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.684_689del (p.Cys228_Ile229del)
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_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)
NM_003072.5(SMARCA4):c.222+1G>T
NM_003072.5(SMARCA4):c.2275-1G>C
NM_003072.5(SMARCA4):c.2438+1G>C
NM_003072.5(SMARCA4):c.2438+1G>T rs1555774786
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met) rs2089620653
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.2859+1G>C rs797044856
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.355+1G>A
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.4243C>T (p.Arg1415Ter) rs878854224
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del) rs1601433521
NM_003073.5(SMARCB1):c.986+2T>G
NM_003079.5(SMARCE1):c.227A>G (p.Tyr76Cys) rs1555605893
NM_003079.5(SMARCE1):c.238-2A>G
NM_003079.5(SMARCE1):c.816+1del
NM_003079.5(SMARCE1):c.959del (p.Pro320fs)
NM_003106.4(SOX2):c.334C>G (p.Pro112Ala) rs1553862987
NM_003108.4(SOX11):c.262A>G (p.Lys88Glu)
NM_003114.5(SPAG1):c.301-2A>G
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.1101T>G (p.Tyr367Ter)
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_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1188dup (p.Lys397fs)
NM_003239.5(TGFB3):c.310G>T (p.Glu104Ter)
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)
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)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1524+2T>C
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)
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter)
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.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_003319.4(TTN):c.69998_70007del10
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_003383.5(VLDLR):c.820+1G>A
NM_003403.5(YY1):c.1015A>C (p.Lys339Gln) rs1555370868
NM_003412.4(ZIC1):c.1130T>C (p.Leu377Pro) rs2087391194
NM_003470.3(USP7):c.611+1G>A
NM_003477.3(PDHX):c.1305dup (p.Gln436fs)
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.70G>T (p.Glu24Ter) rs1555198910
NM_003542.4(H4C3):c.136C>A (p.Arg46Ser)
NM_003545.4(H4C5):c.110G>C (p.Arg37Pro)
NM_003545.4(H4C5):c.295T>C (p.Tyr99His)
NM_003545.4(H4C5):c.98C>T (p.Pro33Leu)
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.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
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_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_003906.5(MCM3AP):c.2628+1G>A
NM_003924.4(PHOX2B):c.208dup (p.Leu70fs)
NM_003924.4(PHOX2B):c.295C>T (p.Arg99Trp)
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu) rs104893855
NM_003924.4(PHOX2B):c.429+1G>A
NM_003924.4(PHOX2B):c.429+1G>T
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
NM_003924.4(PHOX2B):c.774_776GGC[3]AGCGGCAGCGGAGGC[1] (p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla)
NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp) rs1553897738
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.31+36947G>A rs886042106
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter) rs2136355372
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) rs1602996815
NM_004115.4(FGF14):c.409-1245_464del
NM_004168.4(SDHA):c.1001_1064+5dup
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
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.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.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1832del (p.Gln611fs) rs1554002451
NM_004168.4(SDHA):c.1848del (p.Lys616fs)
NM_004168.4(SDHA):c.1879del (p.Leu627fs)
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
NM_004168.4(SDHA):c.313-2A>C
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.622-2A>T
NM_004168.4(SDHA):c.63+1G>A
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.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.2092G>A (p.Glu698Lys) rs1057517955
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
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)
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
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)
NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg) rs587782536
NM_004329.3(BMPR1A):c.1166+731A>G
NM_004329.3(BMPR1A):c.1167-1G>A rs1589292553
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1409T>G (p.Met470Arg)
NM_004329.3(BMPR1A):c.1438C>G (p.Arg480Gly)
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
NM_004329.3(BMPR1A):c.1474-2A>G rs587781407
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.295G>C (p.Gly99Arg)
NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr)
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
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.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.769C>A (p.Gln257Lys) rs397507469
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.1613A>T (p.Asp538Val) rs863224726
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
NM_004360.5(CDH1):c.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.2165-2A>G rs1596970624
NM_004360.5(CDH1):c.2196G>C (p.Arg732=)
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.5(CDH1):c.2295+1G>A
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)
NM_004360.5(CDH1):c.2436del (p.Asp812fs)
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.2474dup (p.Pro826fs) rs1555518221
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.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=)
NM_004360.5(CDH1):c.833-9C>G rs878854698
NM_004360.5(CDH1):c.944A>G (p.Asn315Ser)
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg)
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.6324C>A (p.Tyr2108Ter) rs199821421
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
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.2437-1G>C rs1057517903
NM_004415.4(DSP):c.250_273+1del
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)
NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs)
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7780dup (p.Ser2594fs)
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)
NM_004463.3(FGD1):c.2015+1G>A
NM_004463.3(FGD1):c.2020GAG[2] (p.Glu676del)
NM_004484.4(GPC3):c.1166+1G>A
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)
NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)
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_004606.5(TAF1):c.2182dup (p.Thr728fs)
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)
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.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile)
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu)
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) rs121434395
NM_004655.4(AXIN2):c.1059+1G>C
NM_004655.4(AXIN2):c.1712+1G>T
NM_004655.4(AXIN2):c.1713-1G>A rs1309148182
NM_004655.4(AXIN2):c.2205_2206dup (p.Pro736fs)
NM_004655.4(AXIN2):c.2309del (p.Phe770fs) rs1299440644
NM_004656.4(BAP1):c.1117-1G>A
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.1251-1G>A rs1578221396
NM_004656.4(BAP1):c.1251-2A>G rs2153226773
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
NM_004656.4(BAP1):c.1730-2A>G rs2153226523
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
NM_004656.4(BAP1):c.2056+1G>C rs1578218644
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.249_255+15delinsAGACC
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
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
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys)
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys) rs868339867
NM_004656.4(BAP1):c.659+1G>T
NM_004656.4(BAP1):c.659+1del rs1064795667
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC rs1064792988
NM_004656.4(BAP1):c.745_783+57delinsTGG
NM_004699.4(FAM50A):c.760G>A (p.Glu254Lys)
NM_004859.4(CLTC):c.2080_2094del (p.Ser694_Leu698del)
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val) rs1555605688
NM_004859.4(CLTC):c.4606-1G>A
NM_004859.4(CLTC):c.4862_4866del (p.Lys1621fs)
NM_004859.4(CLTC):c.4904-1G>A rs781677731
NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser) rs797044931
NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys)
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)
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) rs1555889114
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
NM_005120.3(MED12):c.1300del (p.Ala434fs) rs1556334793
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3927C>A (p.Asp1309Glu)
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu)
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)
NM_005249.5(FOXG1):c.749G>A (p.Gly250Asp) rs1881807337
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.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del) rs377767349
NM_005359.6(SMAD4):c.1308+1G>T rs587781618
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
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)
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005359.6(SMAD4):c.424+1G>T
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)
NM_005431.2(XRCC2):c.175del (p.Tyr59fs)
NM_005431.2(XRCC2):c.240_243del (p.Phe80fs)
NM_005431.2(XRCC2):c.2T>C (p.Met1Thr) rs1064793295
NM_005431.2(XRCC2):c.350del (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.377T>A (p.Leu126Ter) rs1064794088
NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)
NM_005431.2(XRCC2):c.395C>A (p.Ser132Ter)
NM_005431.2(XRCC2):c.488dup (p.Glu164fs)
NM_005431.2(XRCC2):c.490_491del (p.Glu164fs) rs1590129487
NM_005431.2(XRCC2):c.609del (p.Ser204fs)
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)
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_005461.5(MAFB):c.209C>T (p.Ser70Leu) rs387907006
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005499.3(UBA2):c.1A>G (p.Met1Val) rs2075210211
NM_005499.3(UBA2):c.52_58del (p.Gly18fs)
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)
NM_005585.5(SMAD6):c.950C>G (p.Ser317Ter) rs1333161839
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_1225+1delinsCA rs2134999194
NM_005591.4(MRE11):c.1226-2A>C rs1555009945
NM_005591.4(MRE11):c.1327-1G>C
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
NM_005591.4(MRE11):c.1783+1G>A
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
NM_005591.4(MRE11):c.1995-2A>G rs1591634006
NM_005591.4(MRE11):c.21-1G>A
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
NM_005591.4(MRE11):c.403-2A>T rs2135086294
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter)
NM_005591.4(MRE11):c.56del (p.Thr19fs)
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
NM_005591.4(MRE11):c.846-2A>C rs1591693112
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.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)
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.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
NM_005732.4(RAD50):c.1636-2A>G rs1554098466
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
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
NM_005732.4(RAD50):c.3475+1G>A
NM_005732.4(RAD50):c.3475+2T>C rs761168506
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
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.3722_3745delinsGCGTA (p.Asn1241fs)
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
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.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_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.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
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.401-6G>A rs745672741
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.872-2_881del
NM_005918.4(MDH2):c.556-1G>C
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005932.4(MIPEP):c.1053+1G>A
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)
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)
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)
NM_006015.6(ARID1A):c.971del (p.Gly324fs)
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
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_006196.4(PCBP1):c.550C>T (p.Gln184Ter) rs797044899
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.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_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.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.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)
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.638T>A (p.Leu213His)
NM_006593.4(TBR1):c.732_734delinsGGTCTGGTTTTAACATT (p.Asp245delinsValTrpPheTer)
NM_006618.5(KDM5B):c.1822-1G>A rs1655690067
NM_006648.4(WNK2):c.4801dup (p.Asp1601fs) rs757473977
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
NM_006766.5(KAT6A):c.3040-1G>T rs1821915703
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) rs786200956
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1149+1G>C
NM_006767.4(LZTR1):c.1149+1G>T
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
NM_006767.4(LZTR1):c.1150-1G>T
NM_006767.4(LZTR1):c.1260+1G>T
NM_006767.4(LZTR1):c.1449+1G>C
NM_006767.4(LZTR1):c.1449+1G>T
NM_006767.4(LZTR1):c.1449G>A (p.Gln483=)
NM_006767.4(LZTR1):c.1449G>C (p.Gln483His)
NM_006767.4(LZTR1):c.1615+1G>A
NM_006767.4(LZTR1):c.1616-1G>A
NM_006767.4(LZTR1):c.1616-1G>C
NM_006767.4(LZTR1):c.1616-2A>C
NM_006767.4(LZTR1):c.1616-2A>G rs1328046881
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
NM_006767.4(LZTR1):c.1785+2T>G
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.200+1dup
NM_006767.4(LZTR1):c.200+2T>A
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
NM_006767.4(LZTR1):c.2069+2T>G
NM_006767.4(LZTR1):c.2070-1G>A
NM_006767.4(LZTR1):c.2070-2A>G rs774954465
NM_006767.4(LZTR1):c.2325+1G>C
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.264-2A>C
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.320+2T>G
NM_006767.4(LZTR1):c.321-1G>A
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.401-1G>C rs747225246
NM_006767.4(LZTR1):c.401-2del
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu) rs781431741
NM_006767.4(LZTR1):c.50_51del (p.Ala17fs)
NM_006767.4(LZTR1):c.577T>C (p.Tyr193His) rs2147962725
NM_006767.4(LZTR1):c.594-1G>C
NM_006767.4(LZTR1):c.594-3C>G
NM_006767.4(LZTR1):c.651+1G>A
NM_006767.4(LZTR1):c.651G>A (p.Glu217=)
NM_006767.4(LZTR1):c.652-1G>A
NM_006767.4(LZTR1):c.652-2A>C
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.791+1G>T
NM_006767.4(LZTR1):c.792-1G>A
NM_006767.4(LZTR1):c.792-2A>G
NM_006767.4(LZTR1):c.993+2T>G
NM_006767.4(LZTR1):c.994-1G>A
NM_006767.4(LZTR1):c.994-1G>T rs758238174
NM_006767.4(LZTR1):c.994-2A>G
NM_006772.3(SYNGAP1):c.1386+1G>A
NM_006772.3(SYNGAP1):c.1387-8G>A rs1409847091
NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg)
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)
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.67A>C (p.Lys23Gln) rs869312687
NM_006914.4(RORB):c.1249_1251del (p.Thr417del) rs869312972
NM_006914.4(RORB):c.161T>C (p.Ile54Thr)
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
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_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
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.7960A>T (p.Lys2654Ter) rs1756936101
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
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+2dup
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>C rs759706360
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
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
NM_007194.4(CHEK2):c.1376-27C>G
NM_007194.4(CHEK2):c.1376-2A>C
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1408_1461+209del
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>C rs779844113
NM_007194.4(CHEK2):c.1462-10_1472del
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1476del (p.Arg493fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
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
NM_007194.4(CHEK2):c.320-10_375del
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>T rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
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.445-8_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
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
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.793-1G>T rs730881687
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
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.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+1_908+8delinsTT rs1569127917
NM_007194.4(CHEK2):c.908+2T>G
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)
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007279.3(U2AF2):c.449G>A (p.Arg150His)
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.3(BRCA1):c.5408delG
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
NM_007294.3:c.2692_2693insALU
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.121C>T (p.His41Tyr) rs1060502353
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.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.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
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.441+2T>C rs397509173
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.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro) rs1597830263
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1G>C rs730881495
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.5054_5074+3del
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.5075-8T>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.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.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.5145C>G (p.Ser1715Arg) rs80357094
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>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.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
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.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.5277+1_5277+6del rs1060502356
NM_007294.4(BRCA1):c.5277+2T>G rs2051494815
NM_007294.4(BRCA1):c.5278-2A>G rs397509253
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
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.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs) rs80357744
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
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
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs)
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.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.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.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
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.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.80G>A (p.Cys27Tyr) rs1064793052
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) rs1064793052
NM_007294.4(BRCA1):c.81-2A>G rs397509326
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)
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_012199.5(AGO1):c.1354G>A (p.Ala452Thr)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
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_013275.6(ANKRD11):c.7388C>G (p.Pro2463Arg)
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013436.5(NCKAP1):c.3165_3176del (p.Lys1056_Leu1059del)
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro) rs1057519947
NM_014271.4(IL1RAPL1):c.1489C>T (p.Arg497Ter) rs144365564
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_014489.4(PGAP2):c.732dup (p.Gln245fs) rs771218491
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014822.4(SEC24D):c.1980_1988del (p.Lys660_Asn662del) rs1726363887
NM_014845.6(FIG4):c.1389-1G>C
NM_014845.6(FIG4):c.1749_1750+7del rs1777296419
NM_014845.6(FIG4):c.289+2T>C
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014855.3(AP5Z1):c.1707+1G>A
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_014908.4(DOLK):c.1275del (p.Cys426fs) rs1401485925
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter)
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)
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_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)
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)
NM_015100.4(POGZ):c.3591_3592del (p.Ser1197fs) rs1653397845
NM_015100.4(POGZ):c.568+2T>C
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
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_015346.4(ZFYVE26):c.195-2A>G
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)
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.124+1G>A
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.3(POT1):c.1369+1G>A
NM_015450.3(POT1):c.1369+1G>T
NM_015450.3(POT1):c.1792+1G>A rs1562972354
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.1A>G (p.Met1Val) rs1584510207
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)
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
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.79G>C (p.Gly27Arg) rs1584791977
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.9+1G>A
NM_015474.4(SAMHD1):c.349-6_354del
NM_015559.3(SETBP1):c.4000+2T>G rs2071410989
NM_015627.3(LDLRAP1):c.748-608G>A
NM_015662.3(IFT172):c.2976-2A>T
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_016120.4(RLIM):c.1159C>T (p.Arg387Cys) rs1569309776
NM_016156.6(MTMR2):c.1746del (p.Arg582fs)
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter) rs138746296
NM_016169.4(SUFU):c.597+1G>A rs1590062006
NM_016169.4(SUFU):c.683+5G>A
NM_016169.4(SUFU):c.739_756+12del
NM_016169.4(SUFU):c.911-8C>A
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016219.5(MAN1B1):c.620+1del rs1564278864
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) rs1555543296
NM_016532.4(INPP5K):c.1229_1230del (p.Phe410fs)
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
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) rs1553881788
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017635.5(KMT5B):c.970T>G (p.Cys324Gly) rs1555027828
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)
NM_017721.5(CC2D1A):c.61-2A>G
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2958-3A>G
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) rs1057521077
NM_017780.4(CHD7):c.3201+1G>T rs1804103264
NM_017780.4(CHD7):c.4644+5G>T
NM_017780.4(CHD7):c.4645-1G>C
NM_017780.4(CHD7):c.5405-17G>A rs794727423
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)
NM_017849.3:c.498_499insALU
NM_017849.4(TMEM127):c.245-2del
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg) rs1684398953
NM_017849.4(TMEM127):c.409+1_409+8del
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.541dup (p.Ala181fs)
NM_017849.4(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.613del (p.Glu205fs) rs1684144086
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_018116.4(MSTO1):c.1A>C (p.Met1Leu)
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_018486.3(HDAC8):c.467A>G (p.Asn156Ser)
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018668.5(VPS33B):c.1106-2A>C
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)
NM_018699.4(PRDM5):c.243del (p.Trp81fs)
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018941.4(CLN8):c.92G>A (p.Gly31Asp) rs1366421988
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs) rs1555393172
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
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)
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_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_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.70C>T (p.Arg24Ter)
NM_020699.4(GATAD2B):c.730-1G>T rs1674522395
NM_020738.4(KIDINS220):c.4050dup (p.Gln1351fs)
NM_020738.4(KIDINS220):c.4171_4175del (p.Ile1391fs) rs1664160163
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)
NM_020745.4(AARS2):c.2T>C (p.Met1Thr)
NM_020751.3(COG6):c.1166+1G>A
NM_020778.4:c.1178_1179insALU
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
NM_020778.5(ALPK3):c.1438del (p.Arg480fs) rs1963653131
NM_020778.5(ALPK3):c.2464C>T (p.Gln822Ter)
NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter)
NM_020778.5(ALPK3):c.3231_3232del (p.Asp1077fs) rs2141568790
NM_020778.5(ALPK3):c.3313del (p.Ala1105fs)
NM_020778.5(ALPK3):c.3649_3662dup (p.Ser1222fs)
NM_020778.5(ALPK3):c.3818-1G>C
NM_020778.5(ALPK3):c.3818-1del
NM_020778.5(ALPK3):c.3884G>A (p.Trp1295Ter) rs2141570234
NM_020778.5(ALPK3):c.3947_3954dup (p.Val1319fs)
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs) rs2141574028
NM_020778.5(ALPK3):c.4582G>T (p.Glu1528Ter)
NM_020778.5(ALPK3):c.4641dup (p.Glu1548Ter)
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs) rs2141556264
NM_020778.5(ALPK3):c.678_685dup (p.Gly229delinsAspTer)
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter) rs2141556463
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
NM_020778.5(ALPK3):c.801_810delinsACCTGA (p.Asn267fs)
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)
NM_020812.4(DOCK6):c.4650+1_4650+3del rs1280482569
NM_020822.3(KCNT1):c.1421G>T (p.Arg474Leu)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs) rs1555721549
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
NM_020975.6(RET):c.1760-2_1760-1del
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) rs377767395
NM_020975.6(RET):c.1879+1del
NM_020975.6(RET):c.1888T>A (p.Cys630Ser)
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
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)
NM_021005.4(NR2F2):c.940T>C (p.Cys314Arg) rs1555447237
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021072.4(HCN1):c.459G>T (p.Met153Ile)
NM_021076.4(NEFH):c.3044_3045del (p.Lys1015fs)
NM_021120.4(DLG3):c.158_159insA (p.Tyr54fs)
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)
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_022455.5(NSD1):c.4756T>C (p.Cys1586Arg) rs1554198434
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.639G>A (p.Glu213=)
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
NM_022773.4(LMF1):c.966del (p.Phe323fs)
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
NM_024298.5(MBOAT7):c.855-2A>G rs2076192966
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) rs752675360
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024496.4(IRF2BPL):c.1412G>A (p.Trp471Ter)
NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs) rs1555377234
NM_024529.5(CDC73):c.1030+1G>A
NM_024529.5(CDC73):c.1067-2A>G
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.238-1G>T
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.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.2455_2456insALU
NM_024675.3:c.2913_2914insALU
NM_024675.3:c.3180_3181insALU
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)
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2514+1G>T
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
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.2749-2A>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>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)
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+1G>C
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-554_3166del
NM_024675.4(PALB2):c.31del (p.Cys11fs)
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201+1del
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)
NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs)
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
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
NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs)
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.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.9_48+118del
NM_024685.4(BBS10):c.1804G>T (p.Val602Leu) rs778431173
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024757.5(EHMT1):c.2426C>G (p.Pro809Arg)
NM_024757.5(EHMT1):c.3447C>T (p.Gly1149=)
NM_024818.6(UBA5):c.638C>T (p.Ser213Leu) rs376997494
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
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_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
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)
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+3del rs2145331108
NM_032043.3(BRIP1):c.1140+6T>C
NM_032043.3(BRIP1):c.1141-2A>G
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter)
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.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1629-2A>G
NM_032043.3(BRIP1):c.1794+2T>A
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.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2098-1G>T
NM_032043.3(BRIP1):c.2098-3_2098-1delinsAA
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.2492+1G>A
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-1G>C rs786203451
NM_032043.3(BRIP1):c.2575+1G>C
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)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2905+1G>C
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
NM_032043.3(BRIP1):c.2986C>T (p.Gln996Ter)
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.3240dup (p.Ala1081fs) rs779741278
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.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.3(BRIP1):c.379+1del
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>C (p.Gln169His)
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.628-3C>G
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.727A>G (p.Ile243Val)
NM_032043.3(BRIP1):c.72del (p.Gln25fs)
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
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
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys) rs2057483219
NM_032482.3(DOT1L):c.3882dup (p.Gly1295fs) rs2024330843
NM_032590.5(KDM2B):c.1847G>T (p.Cys616Phe)
NM_032730.5(RTN4IP1):c.1084A>T (p.Ile362Phe) rs1775080757
NM_032806.6(POMGNT2):c.880C>T (p.Arg294Ter)
NM_032856.5(WDR73):c.21G>A (p.Trp7Ter)
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
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) rs1555783543
NM_033409.4(SLC52A3):c.1203dup (p.Ser402fs)
NM_033453.4(ITPA):c.403del (p.Arg135fs)
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_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)
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
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.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.570_571+16del
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter)
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)
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)
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_078470.6(COX15):c.750+1G>A
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_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_133378.4(TTN):c.10361-1262dup rs876657673
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_133433.4(NIPBL):c.3810GAA[1] (p.Lys1271del)
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133443.4(GPT2):c.459C>G (p.Ser153Arg) rs786203999
NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter) rs761532715
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)
NM_139058.3(ARX):c.1384_1406del (p.Leu462fs)
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_144628.4(TBC1D20):c.627-1G>C
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144997.7(FLCN):c.1176+1G>A
NM_144997.7(FLCN):c.1176+1G>C rs1555607929
NM_144997.7(FLCN):c.1176+1G>T rs1555607929
NM_144997.7(FLCN):c.1300+5G>C rs746264578
NM_144997.7(FLCN):c.1301-1G>A
NM_144997.7(FLCN):c.1301-2A>C
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1432+1G>T
NM_144997.7(FLCN):c.1498del (p.Val500fs) rs1597578776
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
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)
NM_144997.7(FLCN):c.397-1G>T rs2144983515
NM_144997.7(FLCN):c.397-2A>G
NM_144997.7(FLCN):c.761T>C (p.Leu254Pro)
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.871+132G>T
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_152416.4(NDUFAF6):c.2T>C (p.Met1Thr) rs552141388
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs)
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_152730.6(TBC1D32):c.2482-2A>G
NM_152743.4(BRAT1):c.1134+1G>C
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
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_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
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.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1381-1G>A
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
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.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.639+1G>T rs869125101
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.82C>G (p.Arg28Gly) rs59914820
NM_170707.4(LMNA):c.937-1G>A rs1553265606
NM_170707.4(LMNA):c.937-2A>G
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1962_1963del (p.Glu654fs)
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.612G>C (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
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)
NM_173659.5(RPUSD3):c.646C>T (p.Arg216Cys) rs767103943
NM_174916.3(UBR1):c.3848+1G>T rs758623165
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176869.3(PPA2):c.528+1G>A
NM_177438.3(DICER1):c.1376+1G>A rs886037670
NM_177438.3(DICER1):c.1753-9A>G rs1595407392
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
NM_177438.3(DICER1):c.2256+5G>T
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
NM_177438.3(DICER1):c.2650+1G>A rs886037691
NM_177438.3(DICER1):c.2988-2A>G rs1595372950
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.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly) rs886037729
NM_177550.5(SLC13A5):c.548-1G>A
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)
NM_181303.2(NLGN3):c.577+1G>A
NM_181426.2(CCDC39):c.1874+2T>C
NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter)
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) rs397514046
NM_181552.4(CUX1):c.268+1G>A rs1825996355
NM_181882.3(PRX):c.184+2T>C rs2079511684
NM_181882.3(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_182925.5(FLT4):c.3391G>A (p.Gly1131Ser) rs1554109707
NM_182931.3(KMT2E):c.1249-1G>C rs1797769314
NM_182931.3(KMT2E):c.2847+5G>A
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.2286+1G>A rs1749780301
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)
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
NM_198904.4(GABRG2):c.808A>G (p.Arg270Gly) rs796052520
NM_198904.4(GABRG2):c.917C>A (p.Ser306Tyr)
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_205768.3(ZBTB18):c.1118del (p.Ser373fs) rs875989785
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) rs2075181154
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)
NM_206937.2(LIG4):c.907G>C (p.Gly303Arg) rs1131691430
NM_213607.3(CCDC103):c.289dup (p.Leu97fs)
PALB2:c.2515-1G>T rs587776417
Single allele

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