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
|
|