NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
NM_016519.6(AMBN):c.882C>A (p.His294Gln)
|
rs113506649
|
0.01779
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val)
|
rs35018800
|
0.00499
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)
|
rs142733791
|
0.00263
|
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=)
|
rs199537643
|
0.00260
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_003001.5(SDHC):c.*78G>A
|
rs182629842
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_001994.3(F13B):c.1163A>T (p.Glu388Val)
|
rs5991
|
0.00175
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_031307.4(PUS3):c.-47+3170T>C
|
rs104894232
|
0.00103
|
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp)
|
rs150548113
|
0.00098
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)
|
rs189916631
|
0.00095
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_201596.3(CACNB2):c.121-4T>G
|
rs74120235
|
0.00088
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_001145715.3(KPNA7):c.461A>T (p.Glu154Val)
|
rs200308603
|
0.00069
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)
|
rs146257403
|
0.00067
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
|
rs41273880
|
0.00066
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg)
|
rs139068225
|
0.00059
|
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr)
|
rs143671350
|
0.00058
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser)
|
rs140583017
|
0.00057
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His)
|
rs201420492
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
NM_000268.4(NF2):c.1737+2098A>G
|
rs75296199
|
0.00053
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu)
|
rs140218677
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys)
|
rs201202896
|
0.00051
|
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp)
|
rs140567004
|
0.00050
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp)
|
rs191608225
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_000238.4(KCNH2):c.1128+1865C>T
|
rs200324802
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_001011658.4(TRAPPC2):c.-97G>A
|
rs746032983
|
0.00034
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)
|
rs778926161
|
0.00031
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
0.00031
|
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)
|
rs147293913
|
0.00031
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)
|
rs199785411
|
0.00030
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=)
|
rs201383337
|
0.00025
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)
|
rs368380934
|
0.00024
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp)
|
rs200189331
|
0.00022
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys)
|
rs769575268
|
0.00021
|
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)
|
rs200983489
|
0.00021
|
NM_001366722.1(GRIP1):c.1688-3T>C
|
rs185129168
|
0.00021
|
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
|
rs138815960
|
0.00021
|
NM_201384.3(PLEC):c.11222G>A (p.Arg3741Gln)
|
rs373215657
|
0.00021
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)
|
rs201721812
|
0.00020
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)
|
rs201022212
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln)
|
rs138914992
|
0.00019
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00019
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_182919.4(TICAM1):c.470C>T (p.Thr157Met)
|
rs770166865
|
0.00016
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
0.00014
|
NM_001048166.1(STIL):c.1374C>G (p.His458Gln)
|
rs527253805
|
0.00014
|
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr)
|
rs141950573
|
0.00014
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln)
|
rs150883363
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004104.5(FASN):c.6638A>G (p.Gln2213Arg)
|
rs142275662
|
0.00013
|
NM_004614.5(TK2):c.323C>T (p.Thr108Met)
|
rs137854431
|
0.00013
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)
|
rs200470541
|
0.00012
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000281.4(PCBD1):c.205G>A (p.Val69Met)
|
rs200188190
|
0.00011
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile)
|
rs201801258
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser)
|
rs369338222
|
0.00011
|
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val)
|
rs375208564
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_000360.4(TH):c.452T>C (p.Val151Ala)
|
rs147569564
|
0.00010
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)
|
rs201632198
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)
|
rs200137992
|
0.00010
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile)
|
rs147564959
|
0.00009
|
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys)
|
rs543584983
|
0.00009
|
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)
|
rs751845138
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met)
|
rs202182643
|
0.00009
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
0.00009
|
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)
|
rs748516947
|
0.00008
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)
|
rs146020545
|
0.00008
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro)
|
rs151083083
|
0.00007
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000055.4(BCHE):c.1330G>A (p.Ala444Thr)
|
rs201490686
|
0.00006
|
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)
|
rs150146721
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)
|
rs199545653
|
0.00006
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)
|
rs137853120
|
0.00006
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)
|
rs140726146
|
0.00006
|
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln)
|
rs142601828
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_000098.3(CPT2):c.921G>A (p.Met307Ile)
|
rs745698305
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro)
|
rs756628359
|
0.00004
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116
|
0.00004
|
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)
|
rs121917724
|
0.00004
|
NM_000312.4(PROC):c.580C>T (p.Arg194Cys)
|
rs371071104
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp)
|
rs781877536
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser)
|
rs376564758
|
0.00004
|
NM_001144757.3(SCG5):c.532C>T (p.Arg178Ter)
|
rs200799739
|
0.00004
|
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu)
|
rs767949941
|
0.00004
|
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp)
|
rs775735710
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_002474.3(MYH11):c.769G>A (p.Val257Met)
|
rs112992497
|
0.00004
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)
|
rs28939717
|
0.00004
|
NM_004409.5(DMPK):c.1324G>A (p.Val442Met)
|
rs780659624
|
0.00004
|
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu)
|
rs1054346747
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)
|
rs377736535
|
0.00004
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln)
|
rs767877538
|
0.00004
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu)
|
rs377437226
|
0.00003
|
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)
|
rs201255508
|
0.00003
|
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His)
|
rs372808540
|
0.00003
|
NM_003322.6(TULP1):c.1495+1G>A
|
rs281865168
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_017849.4(TMEM127):c.398A>G (p.His133Arg)
|
rs587782203
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)
|
rs369793306
|
0.00003
|
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln)
|
rs371923881
|
0.00003
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00003
|
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln)
|
rs367619172
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)
|
rs762082236
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)
|
rs762209256
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)
|
rs769873284
|
0.00002
|
NM_001367561.1(DOCK7):c.38+6T>C
|
rs1029588198
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)
|
rs771180054
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter)
|
rs760574657
|
0.00002
|
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln)
|
rs762044635
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)
|
rs755117226
|
0.00002
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
NM_000038.6(APC):c.2723C>G (p.Ser908Cys)
|
rs746393911
|
0.00001
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000059.4(BRCA2):c.7995T>C (p.Asp2665=)
|
rs200757418
|
0.00001
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
NM_000128.4(F11):c.1724C>T (p.Ser575Leu)
|
rs281875250
|
0.00001
|
NM_000130.5(F5):c.5408A>G (p.His1803Arg)
|
rs754104059
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr)
|
rs1057519252
|
0.00001
|
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)
|
rs772142634
|
0.00001
|
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)
|
rs368104687
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)
|
rs180824037
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000260.4(MYO7A):c.1563del (p.Asp521fs)
|
rs1064794012
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His)
|
rs779380542
|
0.00001
|
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu)
|
rs1057518295
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys)
|
rs147682682
|
0.00001
|
NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile)
|
rs768015377
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)
|
rs773858454
|
0.00001
|
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)
|
rs587784363
|
0.00001
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004006.3(DMD):c.703C>A (p.Leu235Ile)
|
rs200177107
|
0.00001
|
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)
|
rs375574124
|
0.00001
|
NM_006912.6(RIT1):c.575C>T (p.Ala192Val)
|
rs376391961
|
0.00001
|
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile)
|
rs1057520170
|
0.00001
|
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)
|
rs560246798
|
0.00001
|
NM_016169.4(SUFU):c.750C>A (p.His250Gln)
|
rs1235137905
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)
|
rs763967636
|
0.00001
|
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val)
|
rs772777352
|
0.00001
|
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu)
|
rs121917838
|
0.00001
|
NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser)
|
rs121917837
|
0.00001
|
NM_021957.4(GYS2):c.1230-1G>A
|
rs766733439
|
0.00001
|
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly)
|
rs777114840
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)
|
rs779651314
|
0.00001
|
NM_133379.5(TTN):c.11360del (p.Glu3787fs)
|
rs1309605744
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)
|
rs780510026
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000038.6(APC):c.397T>G (p.Tyr133Asp)
|
rs763487503
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly)
|
rs79011683
|
|
NM_000069.3(CACNA1S):c.4962C>G (p.Asn1654Lys)
|
rs370339547
|
|
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu)
|
rs571114435
|
|
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val)
|
rs1057519250
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)
|
rs141505320
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter)
|
rs1060499784
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000162.5(GCK):c.1003del (p.Val335fs)
|
rs193922254
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000169.3(GLA):c.667T>C (p.Cys223Arg)
|
rs869312381
|
|
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala)
|
rs1057519255
|
|
NM_000179.3(MSH6):c.3646+2T>C
|
rs1553332776
|
|
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg)
|
rs199472881
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
NM_000277.1:c.[722delG;c.735G>A]
|
|
|
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs)
|
rs797044609
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000384.3(APOB):c.1830-1G>A
|
rs1399892057
|
|
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)
|
rs1215189537
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val)
|
rs786202870
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr)
|
rs1057519258
|
|
NM_000541.5(SAG):c.926del (p.Asn309fs)
|
rs587776778
|
|
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)
|
rs1057519260
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val)
|
rs758570060
|
|
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs)
|
rs1060499782
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)
|
rs147205530
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001122630.2(CDKN1C):c.599_600insACCGGC (p.186_187AP[11])
|
rs771450542
|
|
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)
|
rs1588354762
|
|
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer)
|
rs797044606
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
|
rs886041856
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
|
rs1595597551
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)
|
rs1060499616
|
|
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
|
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)
|
rs587784343
|
|
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)
|
rs398123812
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys)
|
rs1057519251
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)
|
rs80358278
|
|
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg)
|
rs763461861
|
|
NM_005262.3(GFER):c.199del (p.Arg67fs)
|
rs863224028
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly)
|
rs1057519259
|
|
NM_005676.5(RBM10):c.2326C>T (p.Arg776Trp)
|
rs1556782020
|
|
NM_006017.3(PROM1):c.622del (p.Thr208fs)
|
rs766246531
|
|
NM_006231.4(POLE):c.4006-1G>T
|
rs1057519256
|
|
NM_006231.4(POLE):c.5558T>C (p.Ile1853Thr)
|
rs1057519257
|
|
NM_006371.5(CRTAP):c.471+2C>G
|
rs137853943
|
|
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)
|
rs1565669640
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)
|
rs200611702
|
|
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
|
NM_007294.4(BRCA1):c.3028C>T (p.Pro1010Ser)
|
rs1057519249
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014270.5(SLC7A9):c.749+1G>C
|
rs1060499787
|
|
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs)
|
rs797044608
|
|
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
|
rs1555057316
|
|
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del)
|
rs876657898
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017813.5(BPNT2):c.559C>T (p.Arg187Ter)
|
rs387907103
|
|
NM_018129.4(PNPO):c.448_451del (p.Pro150fs)
|
rs796052872
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)
|
rs201268862
|
|
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)
|
rs886039494
|
|
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1])
|
rs772557308
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)
|
rs952741388
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
NM_025099.6(CTC1):c.8C>T (p.Ala3Val)
|
rs923853643
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
NM_025137.4(SPG11):c.3291+1G>T
|
rs312262753
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)
|
rs2043824248
|
|
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)
|
rs760848629
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_133259.4(LRPPRC):c.3286del (p.His1096fs)
|
rs797044605
|
|
NM_133259.4(LRPPRC):c.469+1G>A
|
rs1060499785
|
|
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)
|
rs149648640
|
|
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs)
|
rs797044607
|
|
NM_139027.6(ADAMTS13):c.3400+143del
|
rs1060499780
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
Single allele
|
|
|