NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro)
|
rs745695673
|
0.00775
|
NM_080759.6(DACH1):c.1722+6C>T
|
rs192675802
|
0.00741
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)
|
rs52822694
|
0.00673
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)
|
rs375934957
|
0.00574
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala)
|
rs1143675
|
0.00556
|
NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val)
|
rs146201109
|
0.00533
|
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His)
|
rs2307293
|
0.00496
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)
|
rs2233218
|
0.00399
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_022134.3(GAL3ST2):c.29+1G>A
|
rs78620448
|
0.00390
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu)
|
rs201352230
|
0.00349
|
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala)
|
rs75160992
|
0.00321
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)
|
rs146277144
|
0.00285
|
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)
|
rs2799068
|
0.00284
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_001365088.1(SLC12A6):c.271+17825C>T
|
rs150751809
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_152641.4(ARID2):c.1718C>T (p.Thr573Met)
|
rs76994389
|
0.00270
|
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val)
|
rs140868609
|
0.00268
|
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)
|
rs72653095
|
0.00267
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)
|
rs183470913
|
0.00242
|
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser)
|
rs140146478
|
0.00233
|
NM_001143820.2(ETS1):c.617A>G (p.Tyr206Cys)
|
rs142279599
|
0.00219
|
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln)
|
rs139366969
|
0.00215
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu)
|
rs540794663
|
0.00210
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)
|
rs72655967
|
0.00188
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_139285.4(GAS2L2):c.1621G>A (p.Val541Ile)
|
rs145313062
|
0.00182
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_002296.4(LBR):c.866G>A (p.Gly289Glu)
|
rs148541545
|
0.00171
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)
|
rs140460765
|
0.00168
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)
|
rs200215171
|
0.00146
|
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)
|
rs143351214
|
0.00145
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)
|
rs143936557
|
0.00115
|
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)
|
rs116736407
|
0.00113
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln)
|
rs142867197
|
0.00110
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe)
|
rs183141566
|
0.00108
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00106
|
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His)
|
rs759627248
|
0.00103
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
|
rs140542643
|
0.00093
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_001370466.1(NOD2):c.-8-7T>A
|
rs104895421
|
0.00092
|
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu)
|
rs150601238
|
0.00081
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00079
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
NM_001256545.2(MEGF10):c.1130+3G>A
|
rs115184652
|
0.00076
|
NM_004667.6(HERC2):c.2747-3C>A
|
rs200632307
|
0.00076
|
NM_018060.4(IARS2):c.951G>A (p.Lys317=)
|
rs146236436
|
0.00074
|
NM_182643.3(DLC1):c.2213C>T (p.Thr738Met)
|
rs149472569
|
0.00074
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)
|
rs192528655
|
0.00072
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)
|
rs148095899
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_004747.4(DLG5):c.3200G>A (p.Arg1067His)
|
rs201354863
|
0.00059
|
NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg)
|
rs199564693
|
0.00059
|
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu)
|
rs150654627
|
0.00058
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr)
|
rs139052540
|
0.00054
|
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)
|
rs141754568
|
0.00053
|
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu)
|
rs142245630
|
0.00048
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)
|
rs150328852
|
0.00046
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln)
|
rs200756305
|
0.00043
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
NM_004963.4(GUCY2C):c.2067T>G (p.Asn689Lys)
|
rs138497004
|
0.00041
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter)
|
rs201060968
|
0.00039
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_013254.4(TBK1):c.964C>T (p.His322Tyr)
|
rs145905497
|
0.00033
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys)
|
rs137966123
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)
|
rs200650442
|
0.00025
|
NM_015158.5(KANK1):c.3554-5T>A
|
rs76738278
|
0.00025
|
NM_016553.5(NUP62):c.337G>A (p.Gly113Ser)
|
rs200398387
|
0.00024
|
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser)
|
rs370175393
|
0.00024
|
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)
|
rs149693840
|
0.00024
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_003244.4(TGIF1):c.16+1564G>A
|
rs202123354
|
0.00023
|
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln)
|
rs201205115
|
0.00023
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
NM_017760.7(NCAPG2):c.3085G>A (p.Val1029Ile)
|
rs199598836
|
0.00022
|
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)
|
rs565065320
|
0.00022
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)
|
rs138070947
|
0.00017
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)
|
rs200864554
|
0.00014
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr)
|
rs181583071
|
0.00013
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000843.4(GRM6):c.2398G>A (p.Val800Met)
|
rs369642678
|
0.00011
|
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)
|
rs782549299
|
0.00011
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)
|
rs141234822
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)
|
rs267608626
|
0.00009
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
NM_003179.3(SYP):c.868G>T (p.Gly290Trp)
|
rs376222680
|
0.00009
|
NM_022455.5(NSD1):c.72C>T (p.Ala24=)
|
rs147146776
|
0.00009
|
NM_001080517.3(SETD5):c.2462G>A (p.Cys821Tyr)
|
rs376767548
|
0.00008
|
NM_014264.5(PLK4):c.1935+6G>A
|
rs56414190
|
0.00008
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_001386125.1(OBSCN):c.11282G>A (p.Arg3761His)
|
rs368175234
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_014241.4(HACD1):c.143C>T (p.Thr48Ile)
|
rs864309602
|
0.00006
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)
|
rs765315726
|
0.00005
|
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr)
|
rs774276326
|
0.00004
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
0.00004
|
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)
|
rs373598034
|
0.00004
|
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)
|
rs780161032
|
0.00004
|
NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg)
|
rs572425083
|
0.00004
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)
|
rs529184143
|
0.00004
|
NM_000321.3(RB1):c.1814+3A>G
|
rs376886420
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)
|
rs367658497
|
0.00003
|
NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val)
|
rs199570117
|
0.00003
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
NM_000141.5(FGFR2):c.138A>C (p.Gln46His)
|
rs748117555
|
0.00001
|
NM_001080517.3(SETD5):c.521A>G (p.Lys174Arg)
|
rs375122657
|
0.00001
|
NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys)
|
rs761508385
|
0.00001
|
NM_004553.6(NDUFS6):c.133-4C>T
|
rs754448417
|
0.00001
|
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)
|
rs193922723
|
0.00001
|
NM_006343.3(MERTK):c.584-5C>T
|
rs747835003
|
0.00001
|
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly)
|
rs745327804
|
0.00001
|
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys)
|
rs567883079
|
0.00001
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.982G>A (p.Val328Ile)
|
rs768925824
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[3]
|
rs60484572
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys)
|
rs140967677
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr)
|
rs772318314
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly)
|
rs879255405
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu)
|
rs549381989
|
|
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys)
|
rs374204240
|
|
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)
|
rs864309616
|
|
NM_080425.4(GNAS):c.657C>T (p.Pro219=)
|
rs752004692
|
|
NM_144687.4(NLRP12):c.2927+4_2927+5dup
|
rs763190690
|
|
NM_198904.4(GABRG2):c.107+6A>G
|
rs868452487
|
|