ClinVar Miner

List of variants reported as uncertain significance by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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ClinVar version:
Total variants: 1167
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_080473.5(GATA5):c.56C>G (p.Ser19Trp) rs200383755 0.00302
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu) rs146478431 0.00249
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) rs146685901 0.00223
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_152266.5(FAAP24):c.635C>T (p.Thr212Met) rs148106526 0.00211
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344 0.00202
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_001193375.3(NDUFA11):c.460G>T (p.Glu154Ter) rs73920081 0.00191
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) rs147233112 0.00158
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_023083.4(CAPN10):c.959C>T (p.Pro320Leu) rs140681762 0.00147
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg) rs17883283 0.00140
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_001388419.1(KALRN):c.5182+21760C>T rs56407180 0.00127
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly) rs144018361 0.00124
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_004667.6(HERC2):c.7729G>A (p.Val2577Ile) rs146366728 0.00121
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00112
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_032776.3(JMJD1C):c.6112G>C (p.Glu2038Gln) rs201787760 0.00099
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00097
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_001170535.3(ATAD3A):c.604G>A (p.Glu202Lys) rs148455993 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met) rs201764098 0.00092
NM_017654.4(SAMD9):c.2686T>C (p.Tyr896His) rs142611434 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_032816.5(CEP89):c.844A>T (p.Lys282Ter) rs142764139 0.00089
NM_144992.5(VWA3B):c.3142G>A (p.Gly1048Ser) rs190568017 0.00089
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln) rs140569195 0.00088
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr) rs201224113 0.00087
NM_000065.5(C6):c.1967G>A (p.Arg656Gln) rs144666796 0.00082
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg) rs151128145 0.00079
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00079
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys) rs78771765 0.00078
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) rs147242592 0.00076
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg) rs201992066 0.00073
NM_000587.4(C7):c.1852C>T (p.Arg618Trp) rs202140226 0.00073
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile) rs143981111 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser) rs117077093 0.00061
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala) rs201725914 0.00056
NM_001143992.2(WRAP53):c.919C>T (p.Arg307Trp) rs149828392 0.00055
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg) rs35477594 0.00054
NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser) rs201277074 0.00054
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) rs199722684 0.00048
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys) rs140403518 0.00048
NM_000066.4(C8B):c.967C>T (p.Arg323Trp) rs141295453 0.00046
NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg) rs146851340 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00045
NM_176806.4(MOCS2):c.178C>T (p.Arg60Cys) rs146074751 0.00045
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu) rs200864382 0.00044
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile) rs142270656 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_002029.4(FPR1):c.368G>A (p.Arg123His) rs149931707 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile) rs139450204 0.00040
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His) rs138890467 0.00038
NM_001922.5(DCT):c.125C>T (p.Pro42Leu) rs140411565 0.00037
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) rs147594191 0.00036
NM_014798.3(PLEKHM1):c.1348C>A (p.Pro450Thr) rs144621291 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_032427.4(MAML2):c.1143G>T (p.Gln381His) rs201509772 0.00036
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) rs200562747 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_001006658.3(CR2):c.2006A>G (p.His669Arg) rs139230275 0.00033
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00033
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466 0.00032
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys) rs200227182 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_012134.3(LMOD1):c.1631C>A (p.Pro544His) rs202184893 0.00028
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter) rs374389286 0.00028
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) rs200203389 0.00027
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001085458.2(CTNND1):c.1949C>T (p.Thr650Met) rs201906477 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val) rs144367111 0.00025
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00025
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys) rs200860374 0.00025
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001384125.1(BLTP1):c.4927G>A (p.Ala1643Thr) rs201149524 0.00024
NM_021245.4(MYOZ1):c.251T>C (p.Met84Thr) rs147801970 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys) rs201219118 0.00023
NM_002941.4(ROBO1):c.2665C>G (p.Gln889Glu) rs202189901 0.00023
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_003737.4(DCHS1):c.2000C>G (p.Ser667Cys) rs146086570 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln) rs150733634 0.00021
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_020812.4(DOCK6):c.2629C>T (p.Arg877Cys) rs199553475 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser) rs767047161 0.00019
NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln) rs373810087 0.00018
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr) rs202029187 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001281740.3(FHOD3):c.238C>T (p.Arg80Trp) rs199791578 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_001379451.1(BCORL1):c.62G>A (p.Arg21His) rs778701486 0.00017
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) rs145615218 0.00017
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu) rs373555781 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) rs138302371 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00016
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His) rs777568201 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_018196.4(TMLHE):c.278G>A (p.Arg93His) rs145371120 0.00016
NM_020812.4(DOCK6):c.4343C>T (p.Pro1448Leu) rs371710008 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.37873G>A (p.Val12625Met) rs1336768417 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_021245.4(MYOZ1):c.167G>C (p.Gly56Ala) rs200945452 0.00015
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln) rs141488333 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys) rs374444254 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) rs115382946 0.00013
NM_000065.5(C6):c.1498G>T (p.Ala500Ser) rs370054003 0.00012
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser) rs55797424 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00012
NM_001620.3(AHNAK):c.14504C>T (p.Pro4835Leu) rs746907956 0.00012
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) rs776380363 0.00012
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001267550.2(TTN):c.22091G>A (p.Arg7364Gln) rs200128066 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) rs142108185 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_004933.3(CDH15):c.131G>A (p.Arg44Gln) rs199879102 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_016929.5(CLIC5):c.514C>T (p.Arg172Trp) rs138254725 0.00011
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr) rs762311530 0.00011
NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val) rs200126079 0.00011
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001330700.2(TOP2B):c.4201C>T (p.Pro1401Ser) rs566991124 0.00010
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039 0.00010
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) rs201071018 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_014000.3(VCL):c.688C>T (p.Arg230Cys) rs139312390 0.00010
NM_030653.4(DDX11):c.1106A>G (p.Tyr369Cys) rs763547126 0.00010
NM_033026.6(PCLO):c.15265A>T (p.Ser5089Cys) rs370372055 0.00010
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr) rs145978776 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000292.3(PHKA2):c.3443C>T (p.Thr1148Met) rs745667880 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_001365536.1(SCN9A):c.361A>C (p.Lys121Gln) rs200486515 0.00009
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) rs772580545 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397 0.00009
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) rs199790448 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_020458.4(TTC7A):c.806G>A (p.Arg269Gln) rs200332198 0.00009
NM_020774.4(MIB1):c.2026C>T (p.Arg676Ter) rs200545301 0.00009
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser) rs200278862 0.00009
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn) rs758565663 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg) rs397517858 0.00009
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln) rs187346936 0.00008
NM_000400.4(ERCC2):c.733G>A (p.Asp245Asn) rs777291413 0.00008
NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn) rs148195891 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val) rs548397345 0.00008
NM_138713.4(NFAT5):c.151A>G (p.Lys51Glu) rs141097482 0.00008
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000236.3(LIPC):c.968C>T (p.Thr323Met) rs573111255 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001377229.1(DISP1):c.1804C>A (p.Gln602Lys) rs555036894 0.00007
NM_001759.4(CCND2):c.455C>A (p.Ala152Glu) rs199719393 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_005505.5(SCARB1):c.715G>A (p.Gly239Arg) rs201977189 0.00007
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala) rs752749949 0.00007
NM_022114.4(PRDM16):c.115G>A (p.Glu39Lys) rs775285788 0.00007
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu) rs374012976 0.00007
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00007
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543 0.00007
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys) rs373778361 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala) rs782667094 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001128840.3(CACNA1D):c.1112A>C (p.Tyr371Ser) rs577554366 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001184.4(ATR):c.4730G>T (p.Ser1577Ile) rs140533205 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00006
NM_001282874.2(SMARCA1):c.1430C>G (p.Thr477Ser) rs752880574 0.00006
NM_001378183.1(PIEZO2):c.2255A>G (p.Tyr752Cys) rs1015803761 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala) rs767046465 0.00006
NM_006892.4(DNMT3B):c.1087C>T (p.Arg363Cys) rs113400552 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014000.3(VCL):c.592G>A (p.Val198Met) rs760340545 0.00006
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys) rs754717867 0.00006
NM_015213.4(DENND5A):c.2840A>G (p.Asn947Ser) rs779865474 0.00006
NM_022114.4(PRDM16):c.398C>T (p.Thr133Met) rs530119550 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_138554.5(TLR4):c.1779G>A (p.Trp593Ter) rs5030720 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_194277.3(FRMD7):c.899G>A (p.Arg300His) rs773529900 0.00006
NM_213599.3(ANO5):c.674C>T (p.Pro225Leu) rs757947963 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys) rs377577698 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) rs752600101 0.00005
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) rs749618476 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met) rs754231728 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His) rs373169150 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser) rs199705417 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002471.4(MYH6):c.5026G>A (p.Val1676Met) rs773755388 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu) rs747467877 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys) rs776188922 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala) rs778063825 0.00004
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys) rs199684560 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln) rs745632066 0.00004
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr) rs200321491 0.00004
NM_001292063.2(OTOG):c.3649G>A (p.Val1217Met) rs999140107 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn) rs371913931 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002661.5(PLCG2):c.594C>G (p.Ser198Arg) rs368738612 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_003737.4(DCHS1):c.8884C>T (p.Arg2962Trp) rs567880738 0.00004
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004517.4(ILK):c.551A>C (p.Lys184Thr) rs762454800 0.00004
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp) rs772839442 0.00004
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) rs766915028 0.00004
NM_006767.4(LZTR1):c.1615+5G>A rs758783465 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro) rs375428912 0.00004
NM_014615.5(GSE1):c.887C>T (p.Ala296Val) rs763499632 0.00004
NM_015102.5(NPHP4):c.2927C>T (p.Thr976Ile) rs756219438 0.00004
NM_015103.3(PLXND1):c.4526C>T (p.Thr1509Met) rs377455226 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_020812.4(DOCK6):c.1445C>T (p.Pro482Leu) rs557547319 0.00004
NM_021072.4(HCN1):c.2009C>T (p.Ala670Val) rs142280884 0.00004
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His) rs562743627 0.00004
NM_022773.4(LMF1):c.820G>A (p.Glu274Lys) rs531415593 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_032119.4(ADGRV1):c.12379G>A (p.Glu4127Lys) rs372601452 0.00004
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) rs370154845 0.00004
NM_130837.3(OPA1):c.2213G>A (p.Arg738His) rs542540811 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln) rs139388954 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val) rs876661084 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu) rs373304680 0.00003
NM_000257.4(MYH7):c.4868A>G (p.Asn1623Ser) rs1306407579 0.00003
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser) rs760218400 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000384.3(APOB):c.10861G>A (p.Ala3621Thr) rs373995960 0.00003
NM_000426.4(LAMA2):c.5692G>T (p.Ala1898Ser) rs1231472133 0.00003
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu) rs780241203 0.00003
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) rs149662778 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) rs782293373 0.00003
NM_001145252.3(CFP):c.1180C>T (p.Pro394Ser) rs756946812 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_001267550.2(TTN):c.26944G>A (p.Ala8982Thr) rs1384345252 0.00003
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met) rs1060500516 0.00003
NM_001267550.2(TTN):c.28204C>T (p.Arg9402Cys) rs369553799 0.00003
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys) rs774137928 0.00003
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys) rs768427369 0.00003
NM_001267550.2(TTN):c.72271G>C (p.Asp24091His) rs878924658 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001330661.1(ZIC3):c.1273C>T (p.Leu425Phe) rs947803463 0.00003
NM_001370.2(DNAH6):c.3208A>G (p.Thr1070Ala) rs532782813 0.00003
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys) rs536920784 0.00003
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile) rs746478952 0.00003
NM_001999.4(FBN2):c.7859G>A (p.Gly2620Glu) rs770728135 0.00003
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) rs104893854 0.00003
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser) rs775045445 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003477.3(PDHX):c.299_301dup (p.Val100_Thr101insIle) rs1279606482 0.00003
NM_003571.4(BFSP2):c.1199A>T (p.Lys400Met) rs1286198987 0.00003
NM_003737.4(DCHS1):c.482G>A (p.Arg161His) rs140561117 0.00003
NM_005045.4(RELN):c.8174C>T (p.Ser2725Phe) rs138975709 0.00003
NM_005477.3(HCN4):c.2801G>A (p.Arg934His) rs369485237 0.00003
NM_005534.4(IFNGR2):c.442G>A (p.Val148Met) rs766274599 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) rs773846607 0.00003
NM_007294.4(BRCA1):c.-19-22A>G rs774892235 0.00003
NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn) rs570471424 0.00003
NM_014000.3(VCL):c.1940C>T (p.Ala647Val) rs534449109 0.00003
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln) rs773412024 0.00003
NM_015978.3(TNNI3K):c.1722G>C (p.Met574Ile) rs199899961 0.00003
NM_015978.3(TNNI3K):c.2308G>C (p.Glu770Gln) rs200475459 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_018027.5(FRMD4A):c.1391G>A (p.Arg464His) rs771952094 0.00003
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter) rs1338612539 0.00003
NM_022114.4(PRDM16):c.2663G>A (p.Arg888Gln) rs201119848 0.00003
NM_138713.4(NFAT5):c.3298C>G (p.Gln1100Glu) rs753594508 0.00003
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val) rs145166784 0.00003
NM_153252.5(BRWD3):c.2096G>A (p.Arg699Gln) rs777374143 0.00003
NM_153252.5(BRWD3):c.4339C>T (p.Arg1447Trp) rs764350439 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_182961.4(SYNE1):c.24161C>T (p.Thr8054Met) rs771177928 0.00003
NM_198252.3(GSN):c.-9-1836G>T rs373180886 0.00003
NM_201384.3(PLEC):c.7537A>G (p.Lys2513Glu) rs782813095 0.00003
NM_201384.3(PLEC):c.7538A>C (p.Lys2513Thr) rs782534535 0.00003
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu) rs758712880 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000256.3(MYBPC3):c.1915G>A (p.Val639Ile) rs780907679 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn) rs747993770 0.00002
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp) rs769112519 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000335.5(SCN5A):c.5171C>T (p.Pro1724Leu) rs199473301 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000384.3(APOB):c.9176G>A (p.Arg3059His) rs781645624 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746 0.00002
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His) rs752124839 0.00002
NM_001035.3(RYR2):c.782A>G (p.His261Arg) rs577416427 0.00002
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser) rs777736127 0.00002
NM_001080414.4(CCDC88C):c.971G>A (p.Arg324His) rs535703162 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00002
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys) rs774559979 0.00002
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys) rs1379221574 0.00002
NM_001256447.2(BCAP31):c.230C>T (p.Thr77Met) rs782018233 0.00002
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln) rs774790424 0.00002
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005 0.00002
NM_001267550.2(TTN):c.16576A>C (p.Asn5526His) rs752558197 0.00002
NM_001267550.2(TTN):c.18589+5G>A rs763752372 0.00002
NM_001267550.2(TTN):c.21970T>G (p.Tyr7324Asp) rs765632650 0.00002
NM_001267550.2(TTN):c.36142G>C (p.Val12048Leu) rs768872042 0.00002
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359 0.00002
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met) rs778576436 0.00002
NM_001267550.2(TTN):c.58351C>T (p.Arg19451Cys) rs763871350 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn) rs1482776876 0.00002
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu) rs766741890 0.00002
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile) rs371306826 0.00002
NM_001267550.2(TTN):c.74533A>C (p.Ile24845Leu) rs1214451388 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp) rs754025981 0.00002
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln) rs772536290 0.00002
NM_001267550.2(TTN):c.96475T>C (p.Cys32159Arg) rs1375895455 0.00002
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys) rs186242388 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001846.4(COL4A2):c.5066C>T (p.Ser1689Phe) rs761162868 0.00002
NM_002025.4(AFF2):c.178T>C (p.Tyr60His) rs1298554052 0.00002
NM_002283.4(KRT85):c.943C>T (p.Arg315Cys) rs756221275 0.00002
NM_002471.4(MYH6):c.2768A>C (p.Glu923Ala) rs371709369 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002471.4(MYH6):c.704A>G (p.Lys235Arg) rs544293019 0.00002
NM_002941.4(ROBO1):c.3986A>G (p.Glu1329Gly) rs372766609 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_003482.4(KMT2D):c.2481A>C (p.Gln827His) rs748254982 0.00002
NM_004006.3(DMD):c.6068T>G (p.Leu2023Arg) rs1060502662 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004517.4(ILK):c.647A>G (p.Asp216Gly) rs576804127 0.00002
NM_004667.6(HERC2):c.10075G>T (p.Asp3359Tyr) rs545777717 0.00002
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) rs754546247 0.00002
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser) rs2092336419 0.00002
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu) rs201538257 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) rs80357202 0.00002
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp) rs377722209 0.00002
NM_014855.3(AP5Z1):c.1312-2A>G rs989538601 0.00002
NM_017780.4(CHD7):c.1813C>G (p.His605Asp) rs534225918 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_032968.5(PCDH11X):c.1656C>G (p.Ser552Arg) rs1190053024 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro) rs876658363 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8173G>C (p.Asp2725His) rs587782049 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His) rs786202839 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr) rs553440338 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000157.4(GBA1):c.1475A>T (p.Asp492Val) rs771744004 0.00001
NM_000168.6(GLI3):c.2233G>A (p.Asp745Asn) rs142249104 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu) rs587779282 0.00001
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val) rs751092349 0.00001
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp) rs562158374 0.00001
NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser) rs587778897 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.1985T>C (p.Val662Ala) rs772970643 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg) rs954096716 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.823A>T (p.Ser275Cys) rs1224529304 0.00001
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu) rs370310929 0.00001
NM_000257.4(MYH7):c.3274G>A (p.Ala1092Thr) rs772216320 0.00001
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser) rs763893822 0.00001
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) rs750987717 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) rs757090529 0.00001
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) rs200157204 0.00001
NM_000271.5(NPC1):c.959A>G (p.Glu320Gly) rs1482199433 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000381.4(MID1):c.1414C>T (p.Arg472Cys) rs1339922842 0.00001
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe) rs267599180 0.00001
NM_000400.4(ERCC2):c.260T>C (p.Leu87Pro) rs779462120 0.00001
NM_000414.4(HSD17B4):c.1361T>C (p.Ile454Thr) rs753362442 0.00001
NM_000441.2(SLC26A4):c.2235G>A (p.Thr745=) rs748353957 0.00001
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys) rs767889030 0.00001
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) rs762879256 0.00001
NM_000722.4(CACNA2D1):c.1077G>A (p.Met359Ile) rs1388726184 0.00001
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser) rs201046441 0.00001
NM_001003841.3(SLC6A19):c.727A>G (p.Thr243Ala) rs1328023090 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe) rs751287217 0.00001
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391 0.00001
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr) rs772511386 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) rs747447414 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001083116.3(PRF1):c.260G>A (p.Arg87His) rs557951406 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001105206.3(LAMA4):c.2057-2A>T rs1780342227 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) rs730880121 0.00001
NM_001110556.2(FLNA):c.5900C>T (p.Ser1967Phe) rs1557176208 0.00001
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478 0.00001
NM_001122764.3(PPOX):c.742G>C (p.Gly248Arg) rs767772339 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001159699.2(FHL1):c.113A>C (p.Lys38Thr) rs1370793393 0.00001
NM_001159699.2(FHL1):c.611G>T (p.Cys204Phe) rs2073912150 0.00001
NM_001161352.2(KCNMA1):c.2527G>A (p.Val843Met) rs751748880 0.00001
NM_001182.5(ALDH7A1):c.838A>G (p.Lys280Glu) rs1429272349 0.00001
NM_001253852.3(AP4B1):c.1331G>T (p.Gly444Val) rs1345004647 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr) rs554953169 0.00001
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) rs372841288 0.00001
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr) rs769141222 0.00001
NM_001267550.2(TTN):c.1292C>T (p.Ala431Val) rs1417215136 0.00001
NM_001267550.2(TTN):c.20966C>G (p.Thr6989Ser) rs1228987960 0.00001
NM_001267550.2(TTN):c.22495A>G (p.Thr7499Ala) rs2078525840 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.29183A>G (p.Asn9728Ser) rs374981132 0.00001
NM_001267550.2(TTN):c.44249A>G (p.Asn14750Ser) rs767633080 0.00001
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly) rs796961766 0.00001
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser) rs561728671 0.00001
NM_001267550.2(TTN):c.48022C>T (p.Arg16008Trp) rs374233884 0.00001
NM_001267550.2(TTN):c.52592T>C (p.Val17531Ala) rs764524150 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.63269A>G (p.Tyr21090Cys) rs377480514 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00001
NM_001267550.2(TTN):c.78259G>T (p.Asp26087Tyr) rs1169880412 0.00001
NM_001267550.2(TTN):c.80414A>C (p.Glu26805Ala) rs370095455 0.00001
NM_001267550.2(TTN):c.86614G>A (p.Asp28872Asn) rs1337280647 0.00001
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln) rs794729529 0.00001
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr) rs751714990 0.00001
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys) rs752756889 0.00001
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys) rs371924787 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001291303.3(FAT4):c.2858G>T (p.Gly953Val) rs371993123 0.00001
NM_001321120.2(TBX4):c.1352C>A (p.Thr451Asn) rs376613781 0.00001
NM_001364905.1(LRBA):c.1573T>G (p.Phe525Val) rs768302925 0.00001
NM_001365536.1(SCN9A):c.2332A>G (p.Ile778Val) rs544352696 0.00001
NM_001367916.1(MAGT1):c.620G>T (p.Arg207Ile) rs1557216031 0.00001
NM_001378615.1(CC2D2A):c.4577C>A (p.Thr1526Asn) rs749265354 0.00001
NM_001386393.1(PANK2):c.298+2dup rs1309365137 0.00001
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu) rs1293106380 0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_001429.4(EP300):c.6020A>G (p.Gln2007Arg) rs763892493 0.00001
NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys) rs1278916117 0.00001
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly) rs1040102987 0.00001
NM_001458.5(FLNC):c.905C>T (p.Thr302Met) rs776362922 0.00001
NM_001846.4(COL4A2):c.535C>T (p.Arg179Cys) rs751015466 0.00001
NM_001927.4(DES):c.1147C>T (p.Arg383Cys) rs748945548 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002291.3(LAMB1):c.4964T>C (p.Val1655Ala) rs2032563121 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp) rs1372245953 0.00001
NM_002471.4(MYH6):c.5129A>T (p.Glu1710Val) rs1195165940 0.00001
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys) rs760353963 0.00001
NM_002485.5(NBN):c.2201C>T (p.Ala734Val) rs751824753 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_003000.3(SDHB):c.635T>A (p.Leu212His) rs1307247907 0.00001
NM_003280.3(TNNC1):c.202+5G>C rs759472560 0.00001
NM_003280.3(TNNC1):c.248G>A (p.Arg83Gln) rs1362364913 0.00001
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met) rs758947977 0.00001
NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val) rs748730147 0.00001
NM_004006.3(DMD):c.3937A>G (p.Met1313Val) rs794729003 0.00001
NM_004006.3(DMD):c.5233C>T (p.Arg1745Cys) rs1326450715 0.00001
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys) rs767223665 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004463.3(FGD1):c.2168G>A (p.Arg723Gln) rs1253728802 0.00001
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) rs765298592 0.00001
NM_004525.3(LRP2):c.2688C>G (p.His896Gln) rs1306828984 0.00001
NM_004525.3(LRP2):c.8623C>T (p.Arg2875Cys) rs1308246487 0.00001
NM_004655.4(AXIN2):c.2420A>T (p.Lys807Ile) rs780367025 0.00001
NM_005120.3(MED12):c.5612G>A (p.Arg1871Gln) rs761581305 0.00001
NM_005138.3(SCO2):c.500T>G (p.Val167Gly) rs551555892 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005215.4(DCC):c.2636G>A (p.Arg879Gln) rs369217461 0.00001
NM_005428.4(VAV1):c.461A>C (p.Glu154Ala) rs1199900607 0.00001
NM_005477.3(HCN4):c.1796C>T (p.Ala599Val) rs775019344 0.00001
NM_005477.3(HCN4):c.1996C>T (p.Arg666Trp) rs199943122 0.00001
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp) rs770658894 0.00001
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met) rs1015425548 0.00001
NM_006015.6(ARID1A):c.2870A>G (p.Asn957Ser) rs758593161 0.00001
NM_006172.4(NPPA):c.448C>T (p.Arg150Trp) rs778138090 0.00001
NM_006361.6(HOXB13):c.188G>A (p.Cys63Tyr) rs199813155 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.827G>A (p.Arg276His) rs774519585 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln) rs397508882 0.00001
NM_014000.3(VCL):c.689G>A (p.Arg230His) rs749628307 0.00001
NM_014391.3(ANKRD1):c.710A>G (p.His237Arg) rs145326465 0.00001
NM_015978.3(TNNI3K):c.2254C>T (p.Arg752Trp) rs202017687 0.00001
NM_016103.4(SAR1B):c.280A>C (p.Asn94His) rs755835349 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_017999.5(RNF31):c.2608+5G>A rs1348970683 0.00001
NM_018838.5(NDUFA12):c.338A>G (p.His113Arg) rs770498528 0.00001
NM_020297.4(ABCC9):c.2023A>G (p.Thr675Ala) rs1946308091 0.00001
NM_020297.4(ABCC9):c.2324C>A (p.Pro775His) rs796559062 0.00001
NM_020297.4(ABCC9):c.3892+1G>A rs1942703358 0.00001
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020458.4(TTC7A):c.2312C>T (p.Ala771Val) rs538380438 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020778.5(ALPK3):c.428G>A (p.Arg143Gln) rs372329290 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp) rs369644938 0.00001
NM_022114.4(PRDM16):c.215T>G (p.Val72Gly) rs1208537671 0.00001
NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg) rs947863770 0.00001
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp) rs760927863 0.00001
NM_024120.5(NDUFAF5):c.611C>T (p.Ala204Val) rs146962778 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp) rs765368182 0.00001
NM_025137.4(SPG11):c.3823G>C (p.Ala1275Pro) rs1312391984 0.00001
NM_025243.4(SLC19A3):c.383A>G (p.Tyr128Cys) rs770685804 0.00001
NM_032409.3(PINK1):c.709A>G (p.Met237Val) rs775165635 0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_053025.4(MYLK):c.493del (p.Thr165fs) rs748806035 0.00001
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr) rs1338886488 0.00001
NM_144573.4(NEXN):c.380G>A (p.Arg127His) rs776891268 0.00001
NM_144573.4(NEXN):c.67G>A (p.Val23Ile) rs571729575 0.00001
NM_145046.5(CALR3):c.520C>A (p.Leu174Ile) rs143671909 0.00001
NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys) rs1085307469 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_201384.3(PLEC):c.4118G>A (p.Arg1373Gln) rs782128071 0.00001
NM_000038.6(APC):c.5843A>G (p.Asp1948Gly) rs2149950692
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu) rs2080484145
NM_000051.4(ATM):c.3524C>A (p.Ala1175Asp) rs2135669077
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle) rs758307938
NM_000059.4(BRCA2):c.10184del (p.Glu3395fs) rs1466234699
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.425+3A>G rs932657676
NM_000059.4(BRCA2):c.426-12_426-8del rs276174844
NM_000059.4(BRCA2):c.464G>T (p.Arg155Ile) rs377639990
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.4(BRCA2):c.6844G>A (p.Glu2282Lys) rs1555285137
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000101.4(CYBA):c.140T>G (p.Val47Gly) rs552648681
NM_000113.3(TOR1A):c.863G>T (p.Arg288Leu) rs727502811
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000141.5(FGFR2):c.101A>T (p.Glu34Val) rs1863014865
NM_000157.4(GBA1):c.1474G>C (p.Asp492His) rs779958429
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) rs121908297
NM_000168.6(GLI3):c.2690C>G (p.Pro897Arg) rs2128706252
NM_000179.3(MSH6):c.1226G>A (p.Gly409Glu) rs2104329429
NM_000179.3(MSH6):c.2045C>T (p.Ser682Phe) rs587779225
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.779G>T (p.Gly260Val) rs2104297173
NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr) rs762739119
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met) rs753300898
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) rs730880569
NM_000256.3(MYBPC3):c.3416T>C (p.Val1139Ala) rs2142850291
NM_000257.4(MYH7):c.1686C>A (p.Asn562Lys) rs2138672359
NM_000257.4(MYH7):c.1823T>C (p.Leu608Ser) rs2138671995
NM_000257.4(MYH7):c.2562G>T (p.Glu854Asp) rs778148245
NM_000257.4(MYH7):c.3128A>G (p.Lys1043Arg) rs1892505925
NM_000257.4(MYH7):c.3550C>T (p.Gln1184Ter) rs2138654006
NM_000257.4(MYH7):c.3635G>A (p.Arg1212Gln) rs1892401372
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) rs1351712658
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000314.8(PTEN):c.779A>G (p.Lys260Arg) rs1060500125
NM_000335.5(SCN5A):c.1756G>A (p.Ala586Thr) rs199473129
NM_000335.5(SCN5A):c.3598A>T (p.Ile1200Phe) rs2125861720
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.712A>G (p.Thr238Ala) rs2125910551
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000384.3(APOB):c.8645C>T (p.Thr2882Ile) rs113399155
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys) rs1241569976
NM_000410.4(HFE):c.88C>A (p.Leu30Met) rs760685317
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs) rs762667965
NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs) rs764791942
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer) rs767671344
NM_000455.5(STK11):c.721G>A (p.Ala241Thr) rs587780721
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
NM_000536.4(RAG2):c.1127C>G (p.Thr376Ser) rs192958391
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro) rs1969278145
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000718.4(CACNA1B):c.79G>T (p.Gly27Cys) rs758563303
NM_000726.5(CACNB4):c.272A>T (p.Lys91Ile) rs2099847658
NM_000891.3(KCNJ2):c.1106C>T (p.Ser369Leu) rs2144377947
NM_001005242.3(PKP2):c.1520A>G (p.Asp507Gly) rs1555144465
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly) rs1309098966
NM_001005242.3(PKP2):c.834G>T (p.Gln278His) rs1956949832
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001013838.3(CARMIL2):c.774G>T (p.Arg258Ser) rs376838356
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys) rs397516397
NM_001018113.3(FANCB):c.1008T>A (p.Ser336Arg) rs2147429086
NM_001031834.1(RAB40AL):c.750_752del (p.Arg251del) rs1227227375
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter) rs2114895179
NM_001105206.3(LAMA4):c.200G>A (p.Cys67Tyr) rs1239642838
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser) rs782633612
NM_001110556.2(FLNA):c.5217+5G>C rs2148107328
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) rs1569549906
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001111.5(ADAR):c.3623A>G (p.Tyr1208Cys) rs2101556911
NM_001114748.2(TMEM240):c.389G>A (p.Trp130Ter) rs2100695177
NM_001127255.2(NLRP7):c.1104T>G (p.Ile368Met) rs1654636
NM_001128840.3(CACNA1D):c.5936G>C (p.Arg1979Pro) rs143354476
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001194998.2(CEP152):c.3974A>G (p.Asp1325Gly) rs780508317
NM_001202.6(BMP4):c.1001C>A (p.Ala334Asp) rs550409227
NM_001267550.2(TTN):c.100139T>A (p.Val33380Glu) rs1461056252
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu) rs747929496
NM_001267550.2(TTN):c.13803C>G (p.Ile4601Met) rs2082097990
NM_001267550.2(TTN):c.1694C>A (p.Ser565Tyr) rs762175397
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.18872C>T (p.Pro6291Leu) rs2079914758
NM_001267550.2(TTN):c.25922-6T>G rs796983452
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe) rs878969676
NM_001267550.2(TTN):c.28354G>C (p.Ala9452Pro) rs527663092
NM_001267550.2(TTN):c.35186AAG[1] (p.Glu11730del) rs1348719464
NM_001267550.2(TTN):c.41492T>C (p.Ile13831Thr) rs2154230322
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.50653A>G (p.Ile16885Val) rs1405647586
NM_001267550.2(TTN):c.51443C>G (p.Pro17148Arg) rs2154198776
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser) rs899078606
NM_001267550.2(TTN):c.57387T>G (p.Asn19129Lys) rs375305621
NM_001267550.2(TTN):c.64266A>C (p.Lys21422Asn) rs758963173
NM_001267550.2(TTN):c.65975T>A (p.Ile21992Asn) rs2154178211
NM_001267550.2(TTN):c.72104T>G (p.Phe24035Cys) rs759861907
NM_001267550.2(TTN):c.73232C>A (p.Ala24411Asp) rs55991022
NM_001267550.2(TTN):c.82610G>A (p.Gly27537Asp) rs555055615
NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn) rs1307577297
NM_001267550.2(TTN):c.92128C>A (p.Pro30710Thr) rs2154148331
NM_001267550.2(TTN):c.94032_94040dup (p.Val31346_Glu31347insAspIleVal) rs1697753486
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu) rs1060500477
NM_001267550.2(TTN):c.99478G>A (p.Val33160Ile) rs794729553
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr) rs1183987736
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn) rs1571630555
NM_001276345.2(TNNT2):c.517G>C (p.Glu173Gln) rs1558225569
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278293.3(ARL6):c.540_544dup (p.Gln182fs) rs1214682855
NM_001289808.2(CRYAB):c.201+17C>G rs782366958
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser) rs34001856
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) rs868956996
NM_001364905.1(LRBA):c.7019A>G (p.Gln2340Arg) rs2151993396
NM_001366385.1(CARD14):c.1703A>C (p.Gln568Pro) rs2040800576
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser) rs1387157979
NM_001371279.1(REEP1):c.247G>C (p.Gly83Arg) rs2104244562
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001376.5(DYNC1H1):c.6619-11G>A rs2152578970
NM_001378452.1(ITPR1):c.2054A>G (p.Glu685Gly) rs756830183
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly) rs746275035
NM_001458.5(FLNC):c.6824G>T (p.Ser2275Ile) rs2128939487
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.2292+1G>T rs771569935
NM_002471.4(MYH6):c.3085C>G (p.Leu1029Val) rs1044563809
NM_002471.4(MYH6):c.4051G>A (p.Glu1351Lys) rs2138590193
NM_002471.4(MYH6):c.43T>C (p.Tyr15His) rs1229592151
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.5437C>G (p.Gln1813Glu) rs368384248
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.820del (p.Arg273_Val274insTer) rs2138616823
NM_002473.6(MYH9):c.1208A>G (p.Lys403Arg) rs747265281
NM_002637.4(PHKA1):c.1508G>A (p.Gly503Glu) rs1049971949
NM_002661.5(PLCG2):c.1072+5G>A rs2143609577
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002764.4(PRPS1):c.779G>A (p.Arg260His) rs1131691495
NM_002878.4(RAD51D):c.782A>C (p.Lys261Thr) rs1060502964
NM_002941.4(ROBO1):c.214G>A (p.Glu72Lys) rs2107686661
NM_003105.6(SORL1):c.2441G>A (p.Arg814His) rs372764840
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del) rs748325646
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) rs777211110
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) rs367827746
NM_003482.4(KMT2D):c.7519C>A (p.His2507Asn) rs977445745
NM_003665.4(FCN3):c.764A>G (p.Tyr255Cys) rs1557574365
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
NM_003922.4(HERC1):c.12977G>T (p.Gly4326Val) rs1371846874
NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys) rs2153112943
NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004281.4(BAG3):c.896T>A (p.Val299Asp) rs1489316347
NM_004409.5(DMPK):c.161-9dup rs771358616
NM_004415.4(DSP):c.1163C>T (p.Thr388Ile) rs2113673135
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln) rs1759434677
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004984.4(KIF5A):c.1569+5G>A rs2140165311
NM_005121.3(MED13):c.3676C>G (p.Arg1226Gly) rs367927155
NM_005159.5(ACTC1):c.821C>T (p.Ala274Val) rs538052265
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser) rs771011464
NM_005199.5(CHRNG):c.86T>A (p.Leu29Gln) rs2106219773
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005477.3(HCN4):c.1573C>T (p.Arg525Cys) rs1429346819
NM_005477.3(HCN4):c.3490C>T (p.Pro1164Ser) rs750255859
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005502.4(ABCA1):c.3655G>T (p.Val1219Leu) rs1209484368
NM_005634.3(SOX3):c.729_731dup (p.Ala248dup) rs763403187
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005908.4(MANBA):c.1496GTC[1] (p.Arg500del) rs1423100838
NM_006009.4(TUBA1A):c.1127G>A (p.Cys376Tyr) rs2121241786
NM_006231.4(POLE):c.800C>T (p.Pro267Leu) rs2136018387
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
NM_006579.3(EBP):c.175G>A (p.Gly59Arg) rs782558322
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007078.3(LDB3):c.1235C>G (p.Pro412Arg) rs1416924382
NM_007078.3(LDB3):c.59del (p.Gly20fs) rs1308589918
NM_007129.5(ZIC2):c.692ACC[6] (p.His237_His239del) rs398124241
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) rs587781710
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) rs876659006
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser) rs1555915377
NM_007294.4(BRCA1):c.3467A>C (p.Asp1156Ala) rs2154312065
NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del) rs80358339
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.5467+3A>C rs431825417
NM_007294.4(BRCA1):c.5495T>G (p.Val1832Gly) rs749290001
NM_007294.4(BRCA1):c.670G>C (p.Ala224Pro) rs431825419
NM_012134.3(LMOD1):c.1769T>C (p.Leu590Pro) rs1681246206
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_012309.5(SHANK2):c.4280G>A (p.Arg1427Gln) rs782253326
NM_013266.4(CTNNA3):c.1006C>A (p.Arg336Ser) rs375721994
NM_013266.4(CTNNA3):c.1251A>G (p.Ile417Met) rs1000274422
NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs) rs761152565
NM_013382.7(POMT2):c.1645A>T (p.Met549Leu) rs1555352401
NM_014000.3(VCL):c.1820A>G (p.Lys607Arg) rs2131918378
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln) rs1425397914
NM_014000.3(VCL):c.2692A>G (p.Met898Val) rs2131933674
NM_014000.3(VCL):c.379G>A (p.Asp127Asn) rs1554816666
NM_015021.3(ZNF292):c.2780CTC[1] (p.Pro928del) rs575913628
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015141.4(GPD1L):c.697G>A (p.Gly233Arg) rs1701035626
NM_015488.5(PNKD):c.293G>A (p.Arg98His) rs201495280
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys) rs987143451
NM_015978.3(TNNI3K):c.1349C>T (p.Ala450Val) rs1365720705
NM_017553.3(INO80):c.1444C>T (p.Arg482Trp) rs201642978
NM_017636.4(TRPM4):c.2999G>A (p.Trp1000Ter) rs1968952845
NM_018122.5(DARS2):c.228-16C>G rs778731200
NM_018838.5(NDUFA12):c.83dup (p.Arg29fs) rs1259705655
NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val) rs964127282
NM_020297.4(ABCC9):c.3640G>A (p.Ala1214Thr) rs1943555710
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020320.5(RARS2):c.7T>C (p.Cys3Arg) rs1776539240
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg) rs1295638660
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp) rs1289294595
NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser) rs1555692389
NM_020774.4(MIB1):c.1322A>C (p.Asn441Thr) rs730880135
NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys) rs142109538
NM_020778.5(ALPK3):c.3555_3560dup (p.Arg1186_Glu1187dup) rs756614935
NM_020778.5(ALPK3):c.4655A>C (p.Lys1552Thr) rs1237773925
NM_022114.4(PRDM16):c.1106C>A (p.Pro369His) rs1199723250
NM_022114.4(PRDM16):c.1484C>A (p.Pro495Gln) rs779190595
NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn) rs772689095
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys) rs749180764
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) rs1180844430
NM_022836.4(DCLRE1B):c.73C>A (p.Arg25Ser) rs1668880591
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) rs2144814171
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024675.4(PALB2):c.2807T>C (p.Leu936Ser) rs587780213
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe) rs557277528
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_031418.4(ANO3):c.2945A>G (p.Ter982Trp) rs1853844416
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu) rs181848049
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala) rs1554849161
NM_032578.4(MYPN):c.3721G>A (p.Ala1241Thr) rs1340955437
NM_032782.5(HAVCR2):c.509A>T (p.Asp170Val) rs182081536
NM_033028.5(BBS4):c.1451G>A (p.Gly484Asp) rs2151058238
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del) rs2145568472
NM_138425.4(C12orf57):c.33G>C (p.Leu11Phe) rs782168213
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile) rs374878979
NM_144573.4(NEXN):c.1749G>A (p.Trp583Ter) rs2102180638
NM_145046.5(CALR3):c.484A>G (p.Arg162Gly) rs1172919657
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs) rs745823605
NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu) rs145983286
NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly) rs1448774273
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) rs201454653
NM_181332.3(NLGN4X):c.1168G>A (p.Val390Met) rs2146733104
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys) rs376693048
NM_182978.4(GNAL):c.266_283dup (p.Ala89_Ala94dup) rs750891634
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup) rs782308502
NM_203447.4(DOCK8):c.1798-4A>G rs774596616

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