NM_001305581.2(LRMDA):c.132-253012del
|
rs146123023
|
0.01042
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
NM_000407.5(GP1BB):c.399C>T (p.Ala133=)
|
rs142352780
|
0.00467
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_006208.3(ENPP1):c.313+10del
|
rs778260177
|
0.00389
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_001165967.2(HES7):c.591C>T (p.Pro197=)
|
rs558811781
|
0.00342
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)
|
rs140540789
|
0.00292
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)
|
rs61966074
|
0.00285
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00282
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)
|
rs184586428
|
0.00269
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
NM_013435.3(RAX):c.197G>C (p.Arg66Thr)
|
rs536765190
|
0.00260
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)
|
rs141497885
|
0.00258
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
NM_000392.5(ABCC2):c.1032-3C>T
|
rs139800035
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)
|
rs147768808
|
0.00217
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)
|
rs200543687
|
0.00216
|
NM_139125.4(MASP1):c.1521G>A (p.Thr507=)
|
rs139497497
|
0.00216
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00216
|
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr)
|
rs142733590
|
0.00215
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val)
|
rs138073466
|
0.00213
|
NM_000321.3(RB1):c.2212-15A>G
|
rs372815788
|
0.00212
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)
|
rs138823379
|
0.00210
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)
|
rs144125797
|
0.00205
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_004407.4(DMP1):c.815G>A (p.Arg272His)
|
rs145237146
|
0.00202
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp)
|
rs143346257
|
0.00200
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)
|
rs150426222
|
0.00197
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)
|
rs189931659
|
0.00194
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys)
|
rs190382829
|
0.00192
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_001195263.2(PDZD7):c.2719-9C>A
|
rs184247824
|
0.00189
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg)
|
rs143893647
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00179
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)
|
rs150112560
|
0.00179
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)
|
rs147162838
|
0.00178
|
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)
|
rs148168366
|
0.00178
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)
|
rs148591757
|
0.00177
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)
|
rs143606483
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
NM_002181.4(IHH):c.1051G>A (p.Val351Met)
|
rs143959492
|
0.00174
|
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)
|
rs556840308
|
0.00173
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00173
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)
|
rs187691546
|
0.00172
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00172
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)
|
rs138956153
|
0.00170
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
NM_004625.4(WNT7A):c.555C>T (p.Asn185=)
|
rs149363953
|
0.00170
|
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)
|
rs61750320
|
0.00170
|
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)
|
rs192242889
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)
|
rs148008235
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)
|
rs145940009
|
0.00165
|
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00164
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)
|
rs201102719
|
0.00161
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)
|
rs144192700
|
0.00159
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly)
|
rs140735525
|
0.00159
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)
|
rs34425379
|
0.00158
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)
|
rs144574076
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)
|
rs201294090
|
0.00156
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00155
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)
|
rs147623238
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)
|
rs369083434
|
0.00149
|
NM_001353214.3(DYM):c.620+4T>G
|
rs201652921
|
0.00148
|
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00147
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)
|
rs114941150
|
0.00147
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
0.00146
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met)
|
rs148050566
|
0.00143
|
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)
|
rs61750441
|
0.00143
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=)
|
rs113542201
|
0.00142
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00141
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe)
|
rs147548960
|
0.00138
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00137
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00136
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00136
|
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)
|
rs905287265
|
0.00136
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00135
|
NM_012254.3(SLC27A5):c.899-6C>T
|
rs200114980
|
0.00135
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)
|
rs376451611
|
0.00132
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)
|
rs577913880
|
0.00131
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)
|
rs145453157
|
0.00129
|
NM_001365951.3(KIF1B):c.2115+6625G>A
|
rs145248590
|
0.00129
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
NM_201384.3(PLEC):c.12876G>A (p.Val4292=)
|
rs199509259
|
0.00129
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys)
|
rs141768593
|
0.00128
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00127
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)
|
rs143088941
|
0.00127
|
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)
|
rs146685625
|
0.00127
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)
|
rs145319149
|
0.00126
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)
|
rs201124357
|
0.00124
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)
|
rs151181050
|
0.00124
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
NM_004447.6(EPS8):c.1638C>T (p.Asn546=)
|
rs149455769
|
0.00123
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00122
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00122
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00121
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)
|
rs78310959
|
0.00120
|
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu)
|
rs559539989
|
0.00120
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile)
|
rs149519060
|
0.00118
|
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)
|
rs151198926
|
0.00118
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln)
|
rs137885421
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)
|
rs201681832
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)
|
rs143484849
|
0.00116
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00116
|
NM_006383.4(CIB2):c.231G>A (p.Ala77=)
|
rs144346527
|
0.00116
|
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)
|
rs145303578
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00115
|
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu)
|
rs147326417
|
0.00115
|
NM_025074.7(FRAS1):c.108+10T>G
|
rs76831011
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_014780.5(CUL7):c.1067G>A (p.Arg356His)
|
rs146227929
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000286.3(PEX12):c.452G>A (p.Arg151His)
|
rs150186509
|
0.00113
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)
|
rs151286835
|
0.00113
|
NM_004625.4(WNT7A):c.213C>T (p.Asp71=)
|
rs75651130
|
0.00113
|
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)
|
rs140918123
|
0.00112
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)
|
rs149697952
|
0.00111
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00111
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=)
|
rs143272701
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)
|
rs138882727
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)
|
rs141917910
|
0.00110
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)
|
rs551187778
|
0.00110
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His)
|
rs149001183
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)
|
rs370336923
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=)
|
rs142873841
|
0.00108
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)
|
rs146772848
|
0.00107
|
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)
|
rs139243761
|
0.00107
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)
|
rs146149224
|
0.00106
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)
|
rs113282510
|
0.00106
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00106
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
|
rs143818932
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_139125.4(MASP1):c.501C>G (p.Ser167=)
|
rs16861801
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)
|
rs371914255
|
0.00105
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00105
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000392.5(ABCC2):c.3614+6G>C
|
rs17222716
|
0.00103
|
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)
|
rs1800496
|
0.00103
|
NM_001112704.2(VAX1):c.642G>A (p.Leu214=)
|
rs554140675
|
0.00103
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00103
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00103
|
NM_022041.4(GAN):c.1162C>T (p.Leu388=)
|
rs73589395
|
0.00103
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
|
rs141472847
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=)
|
rs200065104
|
0.00102
|
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)
|
rs150637771
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00101
|
NM_001849.4(COL6A2):c.492C>T (p.His164=)
|
rs140929054
|
0.00101
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_000260.4(MYO7A):c.*8C>T
|
rs370206645
|
0.00099
|
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
|
rs111674454
|
0.00099
|
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)
|
rs185613200
|
0.00099
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
|
rs141243126
|
0.00099
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)
|
rs114237522
|
0.00099
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00098
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_014780.5(CUL7):c.2115C>T (p.His705=)
|
rs143128153
|
0.00098
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)
|
rs113315676
|
0.00097
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00097
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00097
|
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)
|
rs148689951
|
0.00097
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00096
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu)
|
rs144464757
|
0.00095
|
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)
|
rs140191063
|
0.00095
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_018965.4(TREM2):c.399G>T (p.Leu133=)
|
rs144250872
|
0.00095
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00095
|
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)
|
rs147498129
|
0.00094
|
NM_001008388.5(CISD2):c.12G>A (p.Glu4=)
|
rs145312923
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)
|
rs886042833
|
0.00094
|
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)
|
rs34081806
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His)
|
rs199922090
|
0.00094
|
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)
|
rs115605801
|
0.00094
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=)
|
rs58068378
|
0.00094
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00093
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_001165967.2(HES7):c.420G>A (p.Pro140=)
|
rs200833034
|
0.00093
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000426.4(LAMA2):c.1782+10C>T
|
rs200030296
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)
|
rs34084741
|
0.00091
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_005045.4(RELN):c.577+7G>T
|
rs188372756
|
0.00091
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
NM_201384.3(PLEC):c.10656G>A (p.Val3552=)
|
rs368312695
|
0.00091
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)
|
rs139997243
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=)
|
rs375543045
|
0.00088
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)
|
rs34966542
|
0.00088
|
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)
|
rs150650712
|
0.00088
|
NM_006019.4(TCIRG1):c.197-5C>T
|
rs183885218
|
0.00088
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00087
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_014425.5(INVS):c.1945G>A (p.Val649Met)
|
rs115042730
|
0.00087
|
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)
|
rs146948888
|
0.00087
|
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)
|
rs77679870
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=)
|
rs45598332
|
0.00086
|
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)
|
rs146800850
|
0.00086
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile)
|
rs149056068
|
0.00086
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
NM_021101.5(CLDN1):c.195A>G (p.Lys65=)
|
rs145197251
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
0.00086
|
NM_000193.4(SHH):c.1181G>A (p.Arg394His)
|
rs551809680
|
0.00085
|
NM_001048166.1(STIL):c.2906A>G (p.His969Arg)
|
rs148193936
|
0.00085
|
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)
|
rs149623434
|
0.00085
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg)
|
rs149431376
|
0.00084
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
NM_001200.4(BMP2):c.561C>T (p.Pro187=)
|
rs149465465
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp)
|
rs148208284
|
0.00083
|
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)
|
rs370130327
|
0.00083
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00083
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)
|
rs142285791
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_006086.4(TUBB3):c.921C>T (p.His307=)
|
rs147283850
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile)
|
rs142219494
|
0.00082
|
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
|
rs117447044
|
0.00082
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
NM_001367721.1(CASK):c.2317+9T>C
|
rs5964007
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)
|
rs148580718
|
0.00081
|
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)
|
rs35959882
|
0.00081
|
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=)
|
rs111925653
|
0.00081
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)
|
rs115650537
|
0.00080
|
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu)
|
rs112657170
|
0.00080
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
NM_001378615.1(CC2D2A):c.1017+7G>A
|
rs137919504
|
0.00080
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00080
|
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)
|
rs139931299
|
0.00080
|
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)
|
rs12068754
|
0.00080
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)
|
rs147202936
|
0.00079
|
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)
|
rs202176764
|
0.00079
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)
|
rs146682651
|
0.00079
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_025132.4(WDR19):c.2364-3del
|
rs757992911
|
0.00079
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)
|
rs149200446
|
0.00078
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00078
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val)
|
rs201017530
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr)
|
rs371302780
|
0.00077
|
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)
|
rs79762798
|
0.00077
|
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)
|
rs112209873
|
0.00077
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)
|
rs150246404
|
0.00076
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001353214.3(DYM):c.946+7G>A
|
rs150849326
|
0.00076
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00076
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_003193.5(TBCE):c.253A>G (p.Ile85Val)
|
rs143886167
|
0.00076
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)
|
rs116314059
|
0.00076
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)
|
rs150499790
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
NM_080916.3(DGUOK):c.630G>A (p.Glu210=)
|
rs115206553
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)
|
rs61752939
|
0.00074
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)
|
rs116099040
|
0.00074
|
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)
|
rs115754570
|
0.00074
|
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)
|
rs143134864
|
0.00074
|
NM_000260.4(MYO7A):c.3503+17G>A
|
rs369969967
|
0.00073
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_002473.6(MYH9):c.2871C>T (p.Ser957=)
|
rs374840260
|
0.00073
|
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
|
rs377452989
|
0.00073
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_005068.3(SIM1):c.279C>T (p.Phe93=)
|
rs145361258
|
0.00073
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
NM_014714.4(IFT140):c.1667A>G (p.His556Arg)
|
rs137925718
|
0.00073
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)
|
rs200611519
|
0.00073
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala)
|
rs140869490
|
0.00072
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)
|
rs149359674
|
0.00072
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)
|
rs147325795
|
0.00072
|
NM_022081.6(HPS4):c.*5C>T
|
rs373741660
|
0.00072
|
NM_001083961.2(WDR62):c.1769-7C>T
|
rs137919897
|
0.00071
|
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)
|
rs139012426
|
0.00071
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys)
|
rs149860938
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
|
rs139773124
|
0.00071
|
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)
|
rs148536971
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)
|
rs145690714
|
0.00070
|
NM_001701.4(BAAT):c.685G>A (p.Val229Ile)
|
rs141722672
|
0.00070
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg)
|
rs140844253
|
0.00069
|
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)
|
rs61739637
|
0.00069
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=)
|
rs149158221
|
0.00068
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
|
rs142974468
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00067
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)
|
rs150734057
|
0.00067
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
NM_001039958.2(MESP2):c.*9G>A
|
rs187680280
|
0.00067
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_004403.3(GSDME):c.823A>G (p.Ile275Val)
|
rs149956122
|
0.00067
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
0.00067
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00066
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val)
|
rs140514906
|
0.00066
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=)
|
rs201479143
|
0.00066
|
NM_003742.4(ABCB11):c.383G>A (p.Arg128His)
|
rs181533618
|
0.00066
|
NM_004463.3(FGD1):c.1647G>A (p.Glu549=)
|
rs142114385
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)
|
rs141193672
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)
|
rs146000214
|
0.00065
|
NM_004086.3(COCH):c.153A>C (p.Pro51=)
|
rs573330522
|
0.00065
|
NM_004608.4(TBX6):c.585C>T (p.Val195=)
|
rs148435229
|
0.00065
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
NM_022436.3(ABCG5):c.510C>T (p.Ala170=)
|
rs147061424
|
0.00065
|
NM_000059.4(BRCA2):c.7007+53G>A
|
rs56014558
|
0.00064
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00064
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00064
|
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu)
|
rs142525507
|
0.00064
|
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp)
|
rs201620814
|
0.00064
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)
|
rs35225938
|
0.00064
|
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)
|
rs79157191
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)
|
rs199557439
|
0.00064
|
NM_016356.5(DCDC2):c.402G>A (p.Pro134=)
|
rs142088541
|
0.00064
|
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)
|
rs189967386
|
0.00064
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)
|
rs117962829
|
0.00064
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=)
|
rs137899688
|
0.00063
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
NM_003193.5(TBCE):c.100+6C>T
|
rs182896657
|
0.00063
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_025074.7(FRAS1):c.969G>A (p.Val323=)
|
rs377333036
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)
|
rs148393425
|
0.00062
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00062
|
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=)
|
rs140332932
|
0.00062
|
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile)
|
rs149272163
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)
|
rs145154884
|
0.00062
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225
|
0.00062
|
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667
|
0.00062
|
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=)
|
rs144228973
|
0.00061
|
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)
|
rs138376525
|
0.00061
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)
|
rs200707391
|
0.00061
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)
|
rs373683425
|
0.00061
|
NM_005957.5(MTHFR):c.1032-6A>G
|
rs2066464
|
0.00061
|
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)
|
rs138152469
|
0.00061
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)
|
rs61756249
|
0.00061
|
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)
|
rs199628481
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
|
rs78880369
|
0.00060
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=)
|
rs17216324
|
0.00059
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr)
|
rs146431168
|
0.00059
|
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)
|
rs148023627
|
0.00059
|
NM_014425.5(INVS):c.2313T>C (p.Asp771=)
|
rs147112151
|
0.00059
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000373.4(UMPS):c.126C>A (p.Gly42=)
|
rs143828400
|
0.00058
|
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00058
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090
|
0.00058
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001966.4(EHHADH):c.1068C>T (p.His356=)
|
rs142166617
|
0.00058
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)
|
rs143972531
|
0.00058
|
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)
|
rs143960528
|
0.00058
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)
|
rs201359669
|
0.00058
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
NM_000460.4(THPO):c.639T>A (p.Thr213=)
|
rs1042348
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)
|
rs190978463
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=)
|
rs148459550
|
0.00057
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln)
|
rs373178892
|
0.00056
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
NM_015915.5(ATL1):c.631-7T>A
|
rs186528086
|
0.00056
|
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr)
|
rs147385529
|
0.00056
|
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)
|
rs147522485
|
0.00056
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)
|
rs190789703
|
0.00056
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=)
|
rs141463153
|
0.00055
|
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
|
rs139283183
|
0.00055
|
NM_181303.2(NLGN3):c.603C>G (p.Pro201=)
|
rs35794236
|
0.00055
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001701.4(BAAT):c.341T>A (p.Val114Glu)
|
rs143561437
|
0.00054
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=)
|
rs61744165
|
0.00054
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00054
|
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr)
|
rs139052540
|
0.00054
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)
|
rs140181682
|
0.00053
|
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)
|
rs142279745
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)
|
rs200089754
|
0.00053
|
NM_006009.4(TUBA1A):c.4-7C>T
|
rs560491477
|
0.00053
|
NM_006922.4(SCN3A):c.1381-4A>G
|
rs199597878
|
0.00053
|
NM_012254.3(SLC27A5):c.1668-10C>T
|
rs375785125
|
0.00053
|
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)
|
rs112039037
|
0.00053
|
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)
|
rs143411142
|
0.00053
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_170784.3(MKKS):c.*10A>G
|
rs144934812
|
0.00053
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
|
rs139244736
|
0.00052
|
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)
|
rs33965008
|
0.00052
|
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)
|
rs200482899
|
0.00052
|
NM_004817.4(TJP2):c.981C>A (p.Ile327=)
|
rs147139671
|
0.00052
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
|
rs75622628
|
0.00052
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00052
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr)
|
rs201657125
|
0.00052
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
0.00051
|
NM_001083961.2(WDR62):c.477G>A (p.Ala159=)
|
rs146485488
|
0.00051
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)
|
rs201114196
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_014920.5(CILK1):c.1702A>G (p.Met568Val)
|
rs145842629
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
NM_025074.7(FRAS1):c.3010+9G>A
|
rs148841455
|
0.00051
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)
|
rs145036293
|
0.00051
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_002335.4(LRP5):c.1032G>C (p.Leu344=)
|
rs143499301
|
0.00050
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
NM_001966.4(EHHADH):c.78G>A (p.Thr26=)
|
rs150381945
|
0.00049
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)
|
rs369391284
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=)
|
rs142964161
|
0.00049
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)
|
rs373958891
|
0.00049
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)
|
rs147012050
|
0.00048
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_006204.4(PDE6C):c.219G>T (p.Gly73=)
|
rs140469169
|
0.00048
|
NM_012254.3(SLC27A5):c.1377+10C>T
|
rs146267408
|
0.00048
|
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)
|
rs200104274
|
0.00048
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
NM_018129.4(PNPO):c.723C>G (p.Ser241=)
|
rs144362146
|
0.00048
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)
|
rs146102132
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)
|
rs369013440
|
0.00048
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00048
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser)
|
rs149096396
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=)
|
rs139127895
|
0.00047
|
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)
|
rs150780205
|
0.00047
|
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)
|
rs148752234
|
0.00047
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)
|
rs116805550
|
0.00047
|
NM_000235.4(LIPA):c.112-9T>C
|
rs200186130
|
0.00046
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
0.00046
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
NM_015295.3(SMCHD1):c.789C>T (p.His263=)
|
rs374899324
|
0.00046
|
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn)
|
rs202075321
|
0.00046
|
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)
|
rs185082202
|
0.00046
|
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)
|
rs375590561
|
0.00046
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)
|
rs201885528
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00045
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)
|
rs141961866
|
0.00045
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)
|
rs144739747
|
0.00044
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)
|
rs375465011
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00043
|
NM_001701.4(BAAT):c.-6A>T
|
rs181929679
|
0.00043
|
NM_002025.4(AFF2):c.1097A>G (p.His366Arg)
|
rs199574795
|
0.00043
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00043
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
NM_005996.4(TBX3):c.1290C>T (p.Gly430=)
|
rs369999628
|
0.00043
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)
|
rs369040584
|
0.00042
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_000295.5(SERPINA1):c.-7A>G
|
rs559054925
|
0.00041
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000392.5(ABCC2):c.150C>T (p.His50=)
|
rs200595851
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_012470.4(TNPO3):c.582T>C (p.Asp194=)
|
rs148885407
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_080680.3(COL11A2):c.1720-4G>T
|
rs369678506
|
0.00041
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala)
|
rs8083708
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
0.00040
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala)
|
rs376483324
|
0.00040
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00040
|
NM_004463.3(FGD1):c.281A>G (p.His94Arg)
|
rs189159946
|
0.00040
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_006086.4(TUBB3):c.357G>A (p.Val119=)
|
rs34174718
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)
|
rs375237454
|
0.00040
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00039
|
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)
|
rs140048578
|
0.00039
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00039
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg)
|
rs200749358
|
0.00039
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
|
rs147904037
|
0.00039
|
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)
|
rs143594020
|
0.00039
|
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)
|
rs141912603
|
0.00039
|
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=)
|
rs199604463
|
0.00039
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)
|
rs201537069
|
0.00039
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
|
rs201801114
|
0.00039
|
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=)
|
rs139655526
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_032119.4(ADGRV1):c.357+8C>T
|
rs376004946
|
0.00039
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001164508.2(NEB):c.4299+7A>G
|
rs373926259
|
0.00038
|
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)
|
rs138613717
|
0.00038
|
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)
|
rs9282830
|
0.00038
|
NM_006907.4(PYCR1):c.540C>T (p.Tyr180=)
|
rs150914837
|
0.00038
|
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)
|
rs139531639
|
0.00038
|
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
|
rs533729683
|
0.00038
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)
|
rs150583876
|
0.00038
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)
|
rs150351766
|
0.00037
|
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994
|
0.00037
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile)
|
rs61756250
|
0.00037
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
NM_000287.4(PEX6):c.-2C>G
|
rs376675730
|
0.00036
|
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)
|
rs149071335
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00036
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)
|
rs199879706
|
0.00036
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00036
|
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=)
|
rs149067286
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)
|
rs140461295
|
0.00036
|
NM_002335.4(LRP5):c.144C>T (p.Ala48=)
|
rs776920568
|
0.00036
|
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)
|
rs374418866
|
0.00036
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)
|
rs143350315
|
0.00036
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)
|
rs144447862
|
0.00036
|
NM_033028.5(BBS4):c.1140G>A (p.Val380=)
|
rs141511580
|
0.00036
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)
|
rs368326361
|
0.00036
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)
|
rs138611390
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)
|
rs374452942
|
0.00035
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_005333.5(HCCS):c.521C>T (p.Ala174Val)
|
rs367601527
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475
|
0.00035
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)
|
rs188775667
|
0.00034
|
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)
|
rs62421010
|
0.00034
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)
|
rs201625116
|
0.00034
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)
|
rs202203523
|
0.00034
|
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)
|
rs201649896
|
0.00034
|
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)
|
rs758757125
|
0.00034
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=)
|
rs373614292
|
0.00034
|
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)
|
rs142462128
|
0.00034
|
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386
|
0.00034
|
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)
|
rs144949902
|
0.00034
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)
|
rs142488318
|
0.00034
|
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)
|
rs186703073
|
0.00034
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)
|
rs149647577
|
0.00033
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
NM_006086.4(TUBB3):c.507C>T (p.Val169=)
|
rs373718068
|
0.00033
|
NM_015166.4(MLC1):c.598-9C>T
|
rs200463656
|
0.00033
|
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)
|
rs140724142
|
0.00033
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00033
|
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)
|
rs199637113
|
0.00033
|
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)
|
rs372858742
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_000392.5(ABCC2):c.339G>A (p.Leu113=)
|
rs151304543
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)
|
rs146301349
|
0.00032
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
NM_014425.5(INVS):c.118C>G (p.Leu40Val)
|
rs148219510
|
0.00032
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00032
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)
|
rs201123766
|
0.00032
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00032
|
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)
|
rs201462310
|
0.00032
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_001077365.2(POMT1):c.855+6T>C
|
rs200692465
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)
|
rs374724784
|
0.00031
|
NM_003722.5(TP63):c.1827A>G (p.Glu609=)
|
rs147538847
|
0.00031
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)
|
rs150402866
|
0.00031
|
NM_080916.3(DGUOK):c.256-7C>T
|
rs199531052
|
0.00031
|
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)
|
rs189233521
|
0.00031
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile)
|
rs138558359
|
0.00030
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_015102.5(NPHP4):c.909C>T (p.Val303=)
|
rs201488441
|
0.00030
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)
|
rs36212064
|
0.00029
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000443.4(ABCB4):c.2395-3T>C
|
rs377462787
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001966.4(EHHADH):c.6C>G (p.Ala2=)
|
rs141515588
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_003482.4(KMT2D):c.840-6C>T
|
rs182926808
|
0.00029
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)
|
rs149055008
|
0.00029
|
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)
|
rs372292364
|
0.00029
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)
|
rs368078922
|
0.00029
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
NM_133379.5(TTN):c.12204C>T (p.Gly4068=)
|
rs144330952
|
0.00029
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)
|
rs202217053
|
0.00029
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_001193315.2(VIPAS39):c.504+9A>G
|
rs371762531
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)
|
rs142563956
|
0.00028
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
NM_005378.6(MYCN):c.658G>T (p.Ala220Ser)
|
rs745414155
|
0.00028
|
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)
|
rs201069164
|
0.00028
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
NM_001127649.3(PEX26):c.318C>G (p.Val106=)
|
rs142072315
|
0.00027
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_003611.3(OFD1):c.54A>G (p.Glu18=)
|
rs147114577
|
0.00027
|
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr)
|
rs146148365
|
0.00027
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
NM_013382.7(POMT2):c.66C>T (p.Gly22=)
|
rs200670377
|
0.00027
|
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)
|
rs144127577
|
0.00027
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00026
|
NM_000287.4(PEX6):c.306G>T (p.Ala102=)
|
rs727504083
|
0.00026
|
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)
|
rs144521346
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg)
|
rs141210101
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=)
|
rs200693940
|
0.00026
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)
|
rs201815449
|
0.00026
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_004813.4(PEX16):c.887+9C>A
|
rs370590743
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_014425.5(INVS):c.2664T>C (p.Ser888=)
|
rs1052867
|
0.00026
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00026
|
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)
|
rs201893489
|
0.00026
|
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)
|
rs185980830
|
0.00026
|
NM_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
NM_153240.5(NPHP3):c.118C>T (p.Leu40=)
|
rs374281831
|
0.00026
|
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)
|
rs201069314
|
0.00026
|
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)
|
rs200924154
|
0.00026
|
NM_207361.6(FREM2):c.9009C>T (p.Val3003=)
|
rs145657148
|
0.00026
|
NM_000057.4(BLM):c.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)
|
rs376262583
|
0.00025
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)
|
rs142574684
|
0.00025
|
NM_032575.3(GLIS2):c.693C>T (p.Asn231=)
|
rs150071733
|
0.00025
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)
|
rs75652750
|
0.00024
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
NM_000245.4(MET):c.1932C>T (p.His644=)
|
rs45520237
|
0.00024
|
NM_000392.5(ABCC2):c.469-9T>C
|
rs147614414
|
0.00024
|
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)
|
rs199553519
|
0.00024
|
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=)
|
rs139517943
|
0.00024
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00024
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
NM_002024.6(FMR1):c.420-10A>T
|
rs781827082
|
0.00024
|
NM_002693.3(POLG):c.2149C>T (p.Leu717=)
|
rs779515404
|
0.00024
|
NM_003742.4(ABCB11):c.477A>G (p.Gln159=)
|
rs191042013
|
0.00024
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)
|
rs149121159
|
0.00024
|
NM_012418.4(FSCN2):c.867C>T (p.His289=)
|
rs368687488
|
0.00024
|
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)
|
rs138094550
|
0.00024
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=)
|
rs201927115
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
NM_002653.5(PITX1):c.262A>C (p.Lys88Gln)
|
rs200888898
|
0.00023
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00023
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00023
|
NM_018668.5(VPS33B):c.1658-7C>T
|
rs375376103
|
0.00023
|
NM_018668.5(VPS33B):c.240-9C>T
|
rs781107857
|
0.00023
|
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)
|
rs375686551
|
0.00023
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000214.3(JAG1):c.1348+3G>A
|
rs368718180
|
0.00022
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
NM_000295.5(SERPINA1):c.-4G>A
|
rs374417614
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)
|
rs60203778
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004304.5(ALK):c.3291C>T (p.Cys1097=)
|
rs370170353
|
0.00022
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
NM_014425.5(INVS):c.114T>C (p.Ser38=)
|
rs114056499
|
0.00022
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00022
|
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)
|
rs138670560
|
0.00022
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)
|
rs147415811
|
0.00022
|
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)
|
rs184127567
|
0.00022
|
NM_022437.3(ABCG8):c.322+6G>A
|
rs181319879
|
0.00022
|
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)
|
rs115013051
|
0.00022
|
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)
|
rs200636818
|
0.00022
|
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)
|
rs138671220
|
0.00022
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser)
|
rs56296335
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)
|
rs150355624
|
0.00021
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)
|
rs147378590
|
0.00021
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)
|
rs200625964
|
0.00021
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
NM_001701.4(BAAT):c.1173C>T (p.His391=)
|
rs113673597
|
0.00021
|
NM_002437.5(MPV17):c.31C>T (p.Leu11=)
|
rs540291444
|
0.00021
|
NM_002618.4(PEX13):c.354T>C (p.Phe118=)
|
rs143378216
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004463.3(FGD1):c.1563C>T (p.Pro521=)
|
rs201996522
|
0.00021
|
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)
|
rs141335706
|
0.00021
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)
|
rs72862973
|
0.00021
|
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=)
|
rs568534039
|
0.00021
|
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)
|
rs371958844
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
0.00021
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
NM_198525.3(KIF7):c.612C>T (p.His204=)
|
rs398124613
|
0.00021
|
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)
|
rs375097273
|
0.00021
|
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)
|
rs534269714
|
0.00021
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)
|
rs200638114
|
0.00020
|
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)
|
rs200499325
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met)
|
rs140527463
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_004839.4(HOMER2):c.609G>T (p.Gln203His)
|
rs200964994
|
0.00020
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
|
rs368101035
|
0.00020
|
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)
|
rs188431787
|
0.00020
|
NM_201384.3(PLEC):c.2785C>T (p.Leu929=)
|
rs369676162
|
0.00020
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)
|
rs148043302
|
0.00019
|
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)
|
rs200211315
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=)
|
rs138673546
|
0.00019
|
NM_000392.5(ABCC2):c.2499T>C (p.Val833=)
|
rs75148532
|
0.00019
|
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)
|
rs369449821
|
0.00019
|
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)
|
rs8187808
|
0.00019
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
|
rs200139797
|
0.00019
|
NM_001101426.4(CRPPA):c.531C>T (p.His177=)
|
rs376195897
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
NM_001287.6(CLCN7):c.558C>T (p.Phe186=)
|
rs147280414
|
0.00019
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)
|
rs187558439
|
0.00019
|
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met)
|
rs138013408
|
0.00019
|
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)
|
rs201219613
|
0.00019
|
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)
|
rs150354113
|
0.00019
|
NM_005045.4(RELN):c.4260G>A (p.Gly1420=)
|
rs150518726
|
0.00019
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)
|
rs184994408
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_017777.4(MKS1):c.1176G>A (p.Pro392=)
|
rs775169308
|
0.00019
|
NM_017777.4(MKS1):c.1408-3C>T
|
rs377033273
|
0.00019
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)
|
rs149310653
|
0.00019
|
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=)
|
rs200360810
|
0.00019
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
NM_000145.4(FSHR):c.312G>A (p.Lys104=)
|
rs147355964
|
0.00018
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00018
|
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)
|
rs114563841
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00018
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00018
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
|
rs148492034
|
0.00018
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00018
|
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)
|
rs114425388
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)
|
rs541967618
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
NM_001083961.2(WDR62):c.1233+7C>G
|
rs537771936
|
0.00017
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=)
|
rs184773311
|
0.00017
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188
|
0.00017
|
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)
|
rs143763229
|
0.00017
|
NM_004715.5(CTDP1):c.669G>A (p.Thr223=)
|
rs146831211
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)
|
rs149920599
|
0.00017
|
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)
|
rs145080707
|
0.00017
|
NM_014780.5(CUL7):c.1570-8G>A
|
rs372757013
|
0.00017
|
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)
|
rs200166175
|
0.00017
|
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)
|
rs200569946
|
0.00017
|
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)
|
rs367848204
|
0.00017
|
NM_018006.5(TRMU):c.853G>A (p.Val285Ile)
|
rs147754663
|
0.00017
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)
|
rs139206060
|
0.00017
|
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=)
|
rs372539998
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)
|
rs755688912
|
0.00017
|
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
|
rs142678486
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)
|
rs201905804
|
0.00017
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
|
rs544877858
|
0.00016
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000443.4(ABCB4):c.80+5A>C
|
rs186976987
|
0.00016
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)
|
rs370827246
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)
|
rs138193963
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00016
|
NM_004260.4(RECQL4):c.1391-4G>T
|
rs190388213
|
0.00016
|
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)
|
rs727504214
|
0.00016
|
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)
|
rs146657010
|
0.00016
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)
|
rs368587038
|
0.00016
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00016
|
NM_012232.6(CAVIN1):c.*10G>A
|
rs200409122
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_015972.4(POLR1D):c.177C>T (p.Ile59=)
|
rs144597856
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)
|
rs143548638
|
0.00016
|
NM_201384.3(PLEC):c.2535C>T (p.Ser845=)
|
rs199721954
|
0.00016
|
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)
|
rs377610697
|
0.00016
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00015
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)
|
rs932238098
|
0.00015
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00015
|
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)
|
rs201089405
|
0.00015
|
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)
|
rs200155807
|
0.00015
|
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)
|
rs137955659
|
0.00015
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_030665.4(RAI1):c.1740G>A (p.Pro580=)
|
rs138768616
|
0.00015
|
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg)
|
rs746952369
|
0.00015
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
NM_153240.5(NPHP3):c.621A>G (p.Val207=)
|
rs139693694
|
0.00015
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_213599.3(ANO5):c.279C>T (p.Asp93=)
|
rs148516756
|
0.00015
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
NM_000528.4(MAN2B1):c.1928+10G>C
|
rs200579436
|
0.00014
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)
|
rs764863689
|
0.00014
|
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)
|
rs201803908
|
0.00014
|
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)
|
rs545478008
|
0.00014
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
NM_003482.4(KMT2D):c.5319+3G>A
|
rs372897046
|
0.00014
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=)
|
rs143397900
|
0.00014
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
NM_015102.5(NPHP4):c.3309C>T (p.His1103=)
|
rs200320780
|
0.00014
|
NM_016356.5(DCDC2):c.349-9C>G
|
rs765613994
|
0.00014
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)
|
rs182360785
|
0.00014
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)
|
rs141664029
|
0.00014
|
NM_025193.4(HSD3B7):c.714C>T (p.His238=)
|
rs147510106
|
0.00014
|
NM_030665.4(RAI1):c.2004C>T (p.Pro668=)
|
rs398124414
|
0.00014
|
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)
|
rs398124432
|
0.00014
|
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)
|
rs147915980
|
0.00014
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)
|
rs202032682
|
0.00014
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)
|
rs781836500
|
0.00014
|
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)
|
rs200893203
|
0.00014
|
NM_201384.3(PLEC):c.1305G>A (p.Ala435=)
|
rs369877618
|
0.00014
|
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)
|
rs369723574
|
0.00014
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
NM_000295.5(SERPINA1):c.918-4A>G
|
rs367822021
|
0.00013
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001379081.2(FREM1):c.3471+9C>T
|
rs377668876
|
0.00013
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00013
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)
|
rs141355337
|
0.00013
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)
|
rs559294915
|
0.00013
|
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)
|
rs146053705
|
0.00013
|
NM_005045.4(RELN):c.8634A>G (p.Ser2878=)
|
rs377429197
|
0.00013
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)
|
rs587697719
|
0.00013
|
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=)
|
rs139901820
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)
|
rs564245730
|
0.00013
|
NM_201384.3(PLEC):c.897G>A (p.Thr299=)
|
rs377035835
|
0.00013
|
NM_207361.6(FREM2):c.6743-9C>T
|
rs749834830
|
0.00013
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=)
|
rs780292269
|
0.00012
|
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)
|
rs752931210
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00012
|
NM_001351132.2(PEX5):c.753+10T>C
|
rs373242881
|
0.00012
|
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195
|
0.00012
|
NM_002979.5(SCP2):c.1469-10T>C
|
rs761545816
|
0.00012
|
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala)
|
rs543241831
|
0.00012
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)
|
rs374465656
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)
|
rs141775567
|
0.00012
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_015102.5(NPHP4):c.279+6C>T
|
rs199856317
|
0.00012
|
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)
|
rs766575963
|
0.00012
|
NM_017777.4(MKS1):c.515+8C>T
|
rs376823839
|
0.00012
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=)
|
rs111773874
|
0.00012
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)
|
rs531535217
|
0.00012
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)
|
rs141733086
|
0.00011
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
NM_000137.4(FAH):c.870C>T (p.Asp290=)
|
rs377480457
|
0.00011
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
NM_000230.3(LEP):c.21C>T (p.Cys7=)
|
rs201523305
|
0.00011
|
NM_000231.3(SGCG):c.102C>T (p.Arg34=)
|
rs140810408
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)
|
rs72552401
|
0.00011
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00011
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)
|
rs200916353
|
0.00011
|
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)
|
rs753786462
|
0.00011
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
NM_001130987.2(DYSF):c.2864+8G>A
|
rs371686795
|
0.00011
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)
|
rs144351488
|
0.00011
|
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)
|
rs763275881
|
0.00011
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
0.00011
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00011
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
NM_001966.4(EHHADH):c.1563G>A (p.Val521=)
|
rs138858065
|
0.00011
|
NM_001966.4(EHHADH):c.621C>G (p.Pro207=)
|
rs139788883
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=)
|
rs398123738
|
0.00011
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_004643.4(PABPN1):c.787C>A (p.Arg263=)
|
rs886044639
|
0.00011
|
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)
|
rs189443180
|
0.00011
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
NM_005379.4(MYO1A):c.92G>A (p.Arg31His)
|
rs727504447
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_012210.4(TRIM32):c.330A>G (p.Gln110=)
|
rs770015462
|
0.00011
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00011
|
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)
|
rs369891453
|
0.00011
|
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn)
|
rs540121859
|
0.00011
|
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=)
|
rs144290584
|
0.00011
|
NM_031433.4(MFRP):c.159T>C (p.Gly53=)
|
rs372897338
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=)
|
rs201129128
|
0.00011
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000163.5(GHR):c.195A>G (p.Ser65=)
|
rs140501920
|
0.00010
|
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)
|
rs17222589
|
0.00010
|
NM_000514.4(GDNF):c.138G>A (p.Ala46=)
|
rs375385439
|
0.00010
|
NM_000553.6(WRN):c.2067C>T (p.Ser689=)
|
rs191757062
|
0.00010
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00010
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=)
|
rs368975126
|
0.00010
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00010
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)
|
rs267600357
|
0.00010
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser)
|
rs150744159
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004817.4(TJP2):c.2961G>A (p.Pro987=)
|
rs371617466
|
0.00010
|
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)
|
rs753875974
|
0.00010
|
NM_018668.5(VPS33B):c.1105+10G>A
|
rs370555380
|
0.00010
|
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)
|
rs782101275
|
0.00010
|
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser)
|
rs183594682
|
0.00010
|
NM_031433.4(MFRP):c.1256-4G>A
|
rs142533439
|
0.00010
|
NM_080916.3(DGUOK):c.60G>A (p.Lys20=)
|
rs961313523
|
0.00010
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)
|
rs537994918
|
0.00010
|
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)
|
rs116763572
|
0.00010
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)
|
rs142671449
|
0.00009
|
NM_000428.3(LTBP2):c.1686+8C>G
|
rs563097395
|
0.00009
|
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=)
|
rs143992162
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)
|
rs191471887
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)
|
rs121912253
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)
|
rs148972050
|
0.00009
|
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)
|
rs199668827
|
0.00009
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)
|
rs141430143
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00009
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
NM_001953.5(TYMP):c.-4A>G
|
rs571316178
|
0.00009
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
NM_002693.3(POLG):c.2220C>T (p.Asn740=)
|
rs141538857
|
0.00009
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
NM_004393.6(DAG1):c.2349T>C (p.Leu783=)
|
rs201280782
|
0.00009
|
NM_004656.4(BAP1):c.186C>T (p.Val62=)
|
rs199608453
|
0.00009
|
NM_004698.4(PRPF3):c.957T>C (p.Pro319=)
|
rs199721048
|
0.00009
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)
|
rs184810732
|
0.00009
|
NM_006019.4(TCIRG1):c.2119-10C>T
|
rs377606178
|
0.00009
|
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)
|
rs139445683
|
0.00009
|
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)
|
rs185162256
|
0.00009
|
NM_015166.4(MLC1):c.93C>T (p.Asp31=)
|
rs199625892
|
0.00009
|
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)
|
rs745333409
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00009
|
NM_023110.3(FGFR1):c.1978-8del
|
rs112311314
|
0.00009
|
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)
|
rs145566650
|
0.00009
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
NM_025193.4(HSD3B7):c.*1C>T
|
rs781013516
|
0.00009
|
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=)
|
rs146702130
|
0.00009
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
|
rs571966529
|
0.00009
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
|
rs777017196
|
0.00009
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
NM_144508.5(KNL1):c.606C>T (p.Ser202=)
|
rs776234628
|
0.00009
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
NM_170699.3(GPBAR1):c.-1G>A
|
rs200558126
|
0.00009
|
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)
|
rs186839881
|
0.00009
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
NM_201384.3(PLEC):c.113-6C>T
|
rs782235036
|
0.00009
|
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)
|
rs377524932
|
0.00009
|
NM_213599.3(ANO5):c.1332+8A>G
|
rs368857740
|
0.00009
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00008
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser)
|
rs186535459
|
0.00008
|
NM_001048166.1(STIL):c.2259C>G (p.Ser753=)
|
rs774035449
|
0.00008
|
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=)
|
rs773948810
|
0.00008
|
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=)
|
rs201711670
|
0.00008
|
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)
|
rs150359172
|
0.00008
|
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=)
|
rs188105111
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=)
|
rs201212909
|
0.00008
|
NM_001376256.1(CRYM):c.474G>A (p.Gln158=)
|
rs371633413
|
0.00008
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)
|
rs184896618
|
0.00008
|
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=)
|
rs146450643
|
0.00008
|
NM_002693.3(POLG):c.1977C>T (p.His659=)
|
rs62640030
|
0.00008
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His)
|
rs770522446
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_005045.4(RELN):c.2637C>T (p.Val879=)
|
rs544717229
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
0.00008
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
NM_018668.5(VPS33B):c.177+5T>A
|
rs747146575
|
0.00008
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)
|
rs201822027
|
0.00008
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00008
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
|
rs760192112
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)
|
rs373354100
|
0.00008
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
|
rs142922408
|
0.00008
|
NM_138694.4(PKHD1):c.708-5C>T
|
rs371844893
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)
|
rs369370495
|
0.00008
|
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)
|
rs782222671
|
0.00008
|
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)
|
rs771101893
|
0.00008
|
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=)
|
rs138902406
|
0.00008
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
NM_000297.4(PKD2):c.1549-4T>C
|
rs374450718
|
0.00007
|
NM_000383.4(AIRE):c.564C>G (p.Val188=)
|
rs201650973
|
0.00007
|
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=)
|
rs370310605
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000780.4(CYP7A1):c.1215+8C>T
|
rs368417648
|
0.00007
|
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)
|
rs376373313
|
0.00007
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=)
|
rs112217896
|
0.00007
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00007
|
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)
|
rs781026169
|
0.00007
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00007
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004380.3(CREBBP):c.3982+10G>A
|
rs370093745
|
0.00007
|
NM_004393.6(DAG1):c.183T>C (p.Val61=)
|
rs775928044
|
0.00007
|
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)
|
rs201120958
|
0.00007
|
NM_004817.4(TJP2):c.2034C>T (p.Asn678=)
|
rs373160031
|
0.00007
|
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)
|
rs151180675
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)
|
rs760820148
|
0.00007
|
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
|
rs199793164
|
0.00007
|
NM_017777.4(MKS1):c.468C>T (p.Val156=)
|
rs199684837
|
0.00007
|
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=)
|
rs780742937
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=)
|
rs746926891
|
0.00007
|
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu)
|
rs775231187
|
0.00007
|
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)
|
rs370328225
|
0.00007
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
NM_181303.2(NLGN3):c.282G>A (p.Ser94=)
|
rs143817848
|
0.00007
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)
|
rs372450879
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000208.4(INSR):c.3042C>T (p.Asp1014=)
|
rs369686949
|
0.00006
|
NM_000214.3(JAG1):c.204C>T (p.Arg68=)
|
rs565407240
|
0.00006
|
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)
|
rs771544217
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)
|
rs148362959
|
0.00006
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)
|
rs771437431
|
0.00006
|
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=)
|
rs200682819
|
0.00006
|
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
|
rs199572129
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
NM_001083962.2(TCF4):c.1245T>C (p.His415=)
|
rs148909575
|
0.00006
|
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)
|
rs782806731
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)
|
rs770611373
|
0.00006
|
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)
|
rs377056951
|
0.00006
|
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)
|
rs745375504
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)
|
rs756518824
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001277115.2(DNAH11):c.5622-7C>A
|
rs727503901
|
0.00006
|
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579
|
0.00006
|
NM_001360.3(DHCR7):c.957G>A (p.Thr319=)
|
rs200157761
|
0.00006
|
NM_001365536.1(SCN9A):c.642A>G (p.Arg214=)
|
rs376908183
|
0.00006
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
NM_002335.4(LRP5):c.4272C>T (p.His1424=)
|
rs145226802
|
0.00006
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
NM_002473.6(MYH9):c.2907C>T (p.Thr969=)
|
rs767461889
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002618.4(PEX13):c.408T>A (p.Ile136=)
|
rs145776973
|
0.00006
|
NM_002693.3(POLG):c.129G>A (p.Gln43=)
|
rs570989155
|
0.00006
|
NM_002693.3(POLG):c.1545C>T (p.Ile515=)
|
rs537156830
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)
|
rs528640585
|
0.00006
|
NM_003742.4(ABCB11):c.3412-7T>C
|
rs757040670
|
0.00006
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)
|
rs368664039
|
0.00006
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
NM_004393.6(DAG1):c.927C>T (p.Arg309=)
|
rs551679833
|
0.00006
|
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)
|
rs142386294
|
0.00006
|
NM_004560.4(ROR2):c.2445G>A (p.Pro815=)
|
rs202010959
|
0.00006
|
NM_004817.4(TJP2):c.2880+17C>T
|
rs778212657
|
0.00006
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met)
|
rs766511464
|
0.00006
|
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)
|
rs200175704
|
0.00006
|
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
NM_014324.6(AMACR):c.429G>A (p.Pro143=)
|
rs368427062
|
0.00006
|
NM_014324.6(AMACR):c.90T>G (p.Arg30=)
|
rs769780647
|
0.00006
|
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)
|
rs141211365
|
0.00006
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015102.5(NPHP4):c.-8C>T
|
rs375807896
|
0.00006
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
0.00006
|
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser)
|
rs183362306
|
0.00006
|
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=)
|
rs202109404
|
0.00006
|
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)
|
rs148345688
|
0.00006
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=)
|
rs569907931
|
0.00006
|
NM_020451.3(SELENON):c.465G>A (p.Thr155=)
|
rs753774853
|
0.00006
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00006
|
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)
|
rs376503331
|
0.00006
|
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)
|
rs745861610
|
0.00006
|
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)
|
rs771638958
|
0.00006
|
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)
|
rs144936899
|
0.00006
|
NM_024649.5(BBS1):c.858C>T (p.Ile286=)
|
rs746775716
|
0.00006
|
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)
|
rs772286870
|
0.00006
|
NM_025074.7(FRAS1):c.39G>A (p.Ala13=)
|
rs773457837
|
0.00006
|
NM_030665.4(RAI1):c.1488G>A (p.Pro496=)
|
rs727504116
|
0.00006
|
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr)
|
rs779651867
|
0.00006
|
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)
|
rs371639191
|
0.00006
|
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)
|
rs147826962
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=)
|
rs398124365
|
0.00006
|
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)
|
rs146573874
|
0.00006
|
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)
|
rs200937358
|
0.00006
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=)
|
rs371520192
|
0.00006
|
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)
|
rs782114678
|
0.00006
|
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)
|
rs782198489
|
0.00006
|
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)
|
rs554561043
|
0.00006
|
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)
|
rs573367793
|
0.00005
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000392.5(ABCC2):c.232C>T (p.Leu78=)
|
rs764390911
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)
|
rs151122002
|
0.00005
|
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)
|
rs375084663
|
0.00005
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=)
|
rs372358310
|
0.00005
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
NM_001360.3(DHCR7):c.69C>T (p.Thr23=)
|
rs199798127
|
0.00005
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)
|
rs552133535
|
0.00005
|
NM_002547.3(OPHN1):c.702+8T>C
|
rs369382527
|
0.00005
|
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)
|
rs758494772
|
0.00005
|
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=)
|
rs368856357
|
0.00005
|
NM_003491.4(NAA10):c.201G>C (p.Val67=)
|
rs375971315
|
0.00005
|
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=)
|
rs771249524
|
0.00005
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)
|
rs200222645
|
0.00005
|
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)
|
rs535728519
|
0.00005
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00005
|
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)
|
rs141965401
|
0.00005
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
|
rs201192584
|
0.00005
|
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)
|
rs76251057
|
0.00005
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)
|
rs766017194
|
0.00005
|
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)
|
rs201436915
|
0.00005
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)
|
rs767584159
|
0.00005
|
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)
|
rs376689763
|
0.00005
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His)
|
rs201573186
|
0.00005
|
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)
|
rs570341792
|
0.00005
|
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)
|
rs148749994
|
0.00005
|
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)
|
rs374669316
|
0.00005
|
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)
|
rs752080876
|
0.00005
|
NM_000017.4(ACADS):c.147C>G (p.Ala49=)
|
rs202193021
|
0.00004
|
NM_000070.3(CAPN3):c.183C>T (p.Phe61=)
|
rs146069933
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000235.4(LIPA):c.714G>A (p.Ala238=)
|
rs139282720
|
0.00004
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
NM_000346.4(SOX9):c.918G>A (p.Val306=)
|
rs367966473
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000392.5(ABCC2):c.213C>T (p.Phe71=)
|
rs770824435
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
0.00004
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000516.7(GNAS):c.108C>T (p.Val36=)
|
rs146581290
|
0.00004
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00004
|
NM_000726.5(CACNB4):c.36G>A (p.Ala12=)
|
rs754380009
|
0.00004
|
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)
|
rs779269724
|
0.00004
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)
|
rs770213403
|
0.00004
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001101426.4(CRPPA):c.789+9G>A
|
rs375132134
|
0.00004
|
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)
|
rs794726872
|
0.00004
|
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=)
|
rs761519681
|
0.00004
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
NM_001164688.2(RD3):c.498C>T (p.Ile166=)
|
rs779584830
|
0.00004
|
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)
|
rs200394848
|
0.00004
|
NM_001193315.2(VIPAS39):c.632-9G>A
|
rs370850533
|
0.00004
|
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile)
|
rs200146597
|
0.00004
|
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=)
|
rs757460153
|
0.00004
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr)
|
rs757220593
|
0.00004
|
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)
|
rs559668426
|
0.00004
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001374353.1(GLI2):c.606C>T (p.Ser202=)
|
rs146181686
|
0.00004
|
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=)
|
rs761202112
|
0.00004
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
NM_001429.4(EP300):c.2419A>G (p.Ile807Val)
|
rs201054979
|
0.00004
|
NM_001429.4(EP300):c.4347T>C (p.His1449=)
|
rs137986257
|
0.00004
|
NM_001453.3(FOXC1):c.474C>T (p.Ser158=)
|
rs369346224
|
0.00004
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001966.4(EHHADH):c.144T>C (p.Ile48=)
|
rs370127523
|
0.00004
|
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)
|
rs185950214
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00004
|
NM_002693.3(POLG):c.3222G>T (p.Val1074=)
|
rs746773616
|
0.00004
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)
|
rs750470666
|
0.00004
|
NM_003482.4(KMT2D):c.10741-7A>G
|
rs550510739
|
0.00004
|
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)
|
rs567323882
|
0.00004
|
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)
|
rs398123714
|
0.00004
|
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)
|
rs534236560
|
0.00004
|
NM_003630.3(PEX3):c.818+3A>G
|
rs975195178
|
0.00004
|
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser)
|
rs779096015
|
0.00004
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
NM_004380.3(CREBBP):c.1275T>C (p.His425=)
|
rs758886547
|
0.00004
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)
|
rs760605470
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)
|
rs146049063
|
0.00004
|
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)
|
rs727503925
|
0.00004
|
NM_004565.3(PEX14):c.330C>T (p.Gly110=)
|
rs772527603
|
0.00004
|
NM_004656.4(BAP1):c.1227G>C (p.Val409=)
|
rs201203425
|
0.00004
|
NM_004817.4(TJP2):c.1629G>A (p.Ser543=)
|
rs771239031
|
0.00004
|
NM_004817.4(TJP2):c.2751C>T (p.Arg917=)
|
rs184519036
|
0.00004
|
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)
|
rs748102718
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=)
|
rs557762861
|
0.00004
|
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)
|
rs756630815
|
0.00004
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)
|
rs776448126
|
0.00004
|
NM_012210.4(TRIM32):c.201T>C (p.Ile67=)
|
rs780799984
|
0.00004
|
NM_012210.4(TRIM32):c.339G>C (p.Arg113=)
|
rs150477945
|
0.00004
|
NM_012210.4(TRIM32):c.501G>A (p.Lys167=)
|
rs200085883
|
0.00004
|
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)
|
rs145162968
|
0.00004
|
NM_014324.6(AMACR):c.1011C>T (p.Ile337=)
|
rs779290495
|
0.00004
|
NM_014425.5(INVS):c.1107T>C (p.His369=)
|
rs760637052
|
0.00004
|
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val)
|
rs557540994
|
0.00004
|
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)
|
rs751732786
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_015102.5(NPHP4):c.267C>T (p.Ile89=)
|
rs372171438
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00004
|
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)
|
rs369550628
|
0.00004
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
NM_017777.4(MKS1):c.1273+6C>T
|
rs371480628
|
0.00004
|
NM_017777.4(MKS1):c.1274-4G>A
|
rs377033778
|
0.00004
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)
|
rs376539395
|
0.00004
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=)
|
rs372301689
|
0.00004
|
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)
|
rs570371168
|
0.00004
|
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)
|
rs373514009
|
0.00004
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)
|
rs367699419
|
0.00004
|
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)
|
rs369912969
|
0.00004
|
NM_024649.5(BBS1):c.48-9C>A
|
rs765571574
|
0.00004
|
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)
|
rs368420512
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033360.4(KRAS):c.93A>G (p.Glu31=)
|
rs377354475
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00004
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
|
rs781244729
|
0.00004
|
NM_170699.3(GPBAR1):c.321C>T (p.His107=)
|
rs199941566
|
0.00004
|
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=)
|
rs202154681
|
0.00004
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)
|
rs782144786
|
0.00004
|
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)
|
rs781832846
|
0.00004
|
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)
|
rs781917029
|
0.00004
|
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)
|
rs376276993
|
0.00004
|
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)
|
rs782713908
|
0.00004
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=)
|
rs376787929
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_001025295.3(IFITM5):c.-10G>A
|
rs770089325
|
0.00003
|
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=)
|
rs767329180
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
0.00003
|
NM_001079802.2(FKTN):c.911-8C>A
|
rs749557617
|
0.00003
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)
|
rs753892271
|
0.00003
|
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)
|
rs751733811
|
0.00003
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
NM_001360.3(DHCR7):c.198C>T (p.Cys66=)
|
rs775127532
|
0.00003
|
NM_001365951.3(KIF1B):c.-5T>C
|
rs200491456
|
0.00003
|
NM_001374385.1(ATP8B1):c.2418+4C>T
|
rs777913106
|
0.00003
|
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)
|
rs553516014
|
0.00003
|
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)
|
rs779662045
|
0.00003
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002335.4(LRP5):c.738C>T (p.Ser246=)
|
rs768638466
|
0.00003
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
NM_003742.4(ABCB11):c.126C>T (p.Gly42=)
|
rs138800291
|
0.00003
|
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=)
|
rs750944055
|
0.00003
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00003
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00003
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
NM_004369.4(COL6A3):c.9329-33C>T
|
rs398124137
|
0.00003
|
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)
|
rs768100377
|
0.00003
|
NM_004565.3(PEX14):c.807C>T (p.Asn269=)
|
rs757658916
|
0.00003
|
NM_004606.5(TAF1):c.4948T>C (p.Leu1650=)
|
rs779320845
|
0.00003
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
NM_006899.5(IDH3B):c.1072-4G>A
|
rs556473702
|
0.00003
|
NM_012210.4(TRIM32):c.-5G>A
|
rs774975492
|
0.00003
|
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=)
|
rs753396304
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=)
|
rs774354969
|
0.00003
|
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)
|
rs151311806
|
0.00003
|
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=)
|
rs374448795
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=)
|
rs191154178
|
0.00003
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)
|
rs763189481
|
0.00003
|
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)
|
rs138943874
|
0.00003
|
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)
|
rs118188023
|
0.00003
|
NM_024408.4(NOTCH2):c.6028-4G>A
|
rs372465730
|
0.00003
|
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)
|
rs779311707
|
0.00003
|
NM_024529.5(CDC73):c.1418-4A>G
|
rs1269877061
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_030665.4(RAI1):c.195G>A (p.Thr65=)
|
rs377342940
|
0.00003
|
NM_030665.4(RAI1):c.660C>T (p.Ser220=)
|
rs756623054
|
0.00003
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832
|
0.00003
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)
|
rs886043216
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00003
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)
|
rs201416081
|
0.00003
|
NM_201384.3(PLEC):c.678G>A (p.Ala226=)
|
rs782369854
|
0.00003
|
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)
|
rs145786786
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
|
rs376298235
|
0.00002
|
NM_000286.3(PEX12):c.570A>G (p.Ser190=)
|
rs758132842
|
0.00002
|
NM_000295.5(SERPINA1):c.1065+6A>T
|
rs79078626
|
0.00002
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00002
|
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=)
|
rs766402494
|
0.00002
|
NM_000443.4(ABCB4):c.717G>A (p.Ser239=)
|
rs770169131
|
0.00002
|
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=)
|
rs761652195
|
0.00002
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00002
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00002
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
0.00002
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_001040167.2(LFNG):c.774C>T (p.Gly258=)
|
rs770507072
|
0.00002
|
NM_001077365.2(POMT1):c.1698+6C>T
|
rs180847856
|
0.00002
|
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)
|
rs368815582
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001165963.4(SCN1A):c.4284+7G>A
|
rs745918943
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001177316.2(SLC34A3):c.449-3C>T
|
rs757092241
|
0.00002
|
NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=)
|
rs765454382
|
0.00002
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
NM_001351132.2(PEX5):c.1111-4C>G
|
rs376699778
|
0.00002
|
NM_001353214.3(DYM):c.288-10G>A
|
rs557407004
|
0.00002
|
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)
|
rs372925840
|
0.00002
|
NM_001374385.1(ATP8B1):c.1029+5T>C
|
rs200663890
|
0.00002
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
NM_001701.4(BAAT):c.102A>T (p.Ala34=)
|
rs774722346
|
0.00002
|
NM_001701.4(BAAT):c.903A>T (p.Thr301=)
|
rs767910529
|
0.00002
|
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)
|
rs755517458
|
0.00002
|
NM_001848.3(COL6A1):c.859-18T>A
|
rs398123641
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002693.3(POLG):c.2019C>T (p.Ala673=)
|
rs557179508
|
0.00002
|
NM_002693.3(POLG):c.33C>T (p.Gly11=)
|
rs1482684558
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=)
|
rs201142538
|
0.00002
|
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=)
|
rs532098737
|
0.00002
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004260.4(RECQL4):c.969C>T (p.Ser323=)
|
rs745658597
|
0.00002
|
NM_004565.3(PEX14):c.-7C>T
|
rs774075581
|
0.00002
|
NM_004565.3(PEX14):c.170-4C>A
|
rs764907398
|
0.00002
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
NM_004817.4(TJP2):c.2775G>A (p.Thr925=)
|
rs374453976
|
0.00002
|
NM_004817.4(TJP2):c.972G>T (p.Gly324=)
|
rs372333417
|
0.00002
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)
|
rs142715198
|
0.00002
|
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)
|
rs145728860
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=)
|
rs373335368
|
0.00002
|
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)
|
rs751938743
|
0.00002
|
NM_017777.4(MKS1):c.279C>T (p.Tyr93=)
|
rs187870415
|
0.00002
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
NM_018136.5(ASPM):c.2205G>A (p.Glu735=)
|
rs755350285
|
0.00002
|
NM_018668.5(VPS33B):c.1014C>T (p.His338=)
|
rs765002211
|
0.00002
|
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=)
|
rs776194035
|
0.00002
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_022437.3(ABCG8):c.695-7T>C
|
rs374648568
|
0.00002
|
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)
|
rs1390174762
|
0.00002
|
NM_024596.5(MCPH1):c.671-3C>T
|
rs374793979
|
0.00002
|
NM_032575.3(GLIS2):c.15C>T (p.Asp5=)
|
rs751898309
|
0.00002
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
NM_080916.3(DGUOK):c.256-6C>T
|
rs568816337
|
0.00002
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00002
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
|
rs535110862
|
0.00002
|
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=)
|
rs398124366
|
0.00002
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00001
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=)
|
rs786201236
|
0.00001
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
NM_000082.4(ERCC8):c.-3G>A
|
rs199968351
|
0.00001
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)
|
rs754581545
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)
|
rs1564748504
|
0.00001
|
NM_000249.4(MLH1):c.222T>C (p.Asp74=)
|
rs755073786
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
0.00001
|
NM_000295.5(SERPINA1):c.1065+10C>T
|
rs56388024
|
0.00001
|
NM_000295.5(SERPINA1):c.646+5_646+6del
|
rs779432340
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000392.5(ABCC2):c.855T>C (p.Asp285=)
|
rs769700101
|
0.00001
|
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
|
rs546653967
|
0.00001
|
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)
|
rs748044865
|
0.00001
|
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)
|
rs8187787
|
0.00001
|
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)
|
rs1297237099
|
0.00001
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)
|
rs763217521
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
NM_000875.5(IGF1R):c.318C>T (p.Ile106=)
|
rs1267154320
|
0.00001
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
NM_001077365.2(POMT1):c.1443C>T (p.His481=)
|
rs139415150
|
0.00001
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)
|
rs532057629
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
0.00001
|
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)
|
rs774464702
|
0.00001
|
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)
|
rs763198861
|
0.00001
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=)
|
rs1567187672
|
0.00001
|
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)
|
rs1373733895
|
0.00001
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
0.00001
|
NM_001193315.2(VIPAS39):c.1266+5T>C
|
rs762123926
|
0.00001
|
NM_001193315.2(VIPAS39):c.1356+8C>T
|
rs988006454
|
0.00001
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
NM_001267550.2(TTN):c.30224-7T>G
|
rs778458915
|
0.00001
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00001
|
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)
|
rs751346951
|
0.00001
|
NM_001292063.2(OTOG):c.7268-7T>A
|
rs911853347
|
0.00001
|
NM_001323289.2(CDKL5):c.2152+10C>G
|
rs763466606
|
0.00001
|
NM_001330260.2(SCN8A):c.929-4C>G
|
rs771227940
|
0.00001
|
NM_001360.3(DHCR7):c.831+7G>A
|
rs1318919210
|
0.00001
|
NM_001374353.1(GLI2):c.765G>A (p.Ser255=)
|
rs200901345
|
0.00001
|
NM_001374385.1(ATP8B1):c.2209+9T>C
|
rs377124910
|
0.00001
|
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=)
|
rs201160977
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=)
|
rs886042162
|
0.00001
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
0.00001
|
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe)
|
rs771154497
|
0.00001
|
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly)
|
rs747498106
|
0.00001
|
NM_002024.6(FMR1):c.1654+10T>A
|
rs782472011
|
0.00001
|
NM_002473.6(MYH9):c.5151-5C>T
|
rs762613036
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002617.4(PEX10):c.913-3C>T
|
rs777570617
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002693.3(POLG):c.330C>T (p.His110=)
|
rs376266682
|
0.00001
|
NM_003001.5(SDHC):c.420A>G (p.Gly140=)
|
rs794727791
|
0.00001
|
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)
|
rs975080118
|
0.00001
|
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu)
|
rs574231443
|
0.00001
|
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)
|
rs374077422
|
0.00001
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu)
|
rs398123762
|
0.00001
|
NM_003630.3(PEX3):c.513A>G (p.Leu171=)
|
rs769938240
|
0.00001
|
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)
|
rs775663263
|
0.00001
|
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=)
|
rs200127070
|
0.00001
|
NM_003846.3(PEX11B):c.192A>G (p.Ser64=)
|
rs781844151
|
0.00001
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)
|
rs1053049323
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004393.6(DAG1):c.2652C>A (p.Thr884=)
|
rs762428862
|
0.00001
|
NM_004393.6(DAG1):c.498G>A (p.Ser166=)
|
rs794727500
|
0.00001
|
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys)
|
rs201202451
|
0.00001
|
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)
|
rs745427593
|
0.00001
|
NM_004817.4(TJP2):c.61-7267A>G
|
rs896087137
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005188.4(CBL):c.1320C>T (p.Gly440=)
|
rs794727972
|
0.00001
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
NM_005477.3(HCN4):c.2523G>A (p.Ser841=)
|
rs768157473
|
0.00001
|
NM_005989.4(AKR1D1):c.24C>T (p.His8=)
|
rs138462322
|
0.00001
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
NM_006086.4(TUBB3):c.606C>T (p.Ile202=)
|
rs576180572
|
0.00001
|
NM_006261.5(PROP1):c.456T>C (p.Ala152=)
|
rs758911793
|
0.00001
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)
|
rs1372713940
|
0.00001
|
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)
|
rs762905941
|
0.00001
|
NM_012254.3(SLC27A5):c.1182+7C>T
|
rs376013474
|
0.00001
|
NM_012418.4(FSCN2):c.1274-6C>T
|
rs1048819854
|
0.00001
|
NM_012470.4(TNPO3):c.189T>C (p.Ala63=)
|
rs755216120
|
0.00001
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00001
|
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)
|
rs199735534
|
0.00001
|
NM_014324.6(AMACR):c.714C>G (p.Pro238=)
|
rs200824585
|
0.00001
|
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)
|
rs1036816659
|
0.00001
|
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=)
|
rs377183096
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015295.3(SMCHD1):c.3277-5C>T
|
rs542259388
|
0.00001
|
NM_016729.3(FOLR1):c.261C>T (p.Asn87=)
|
rs375444839
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_017777.4(MKS1):c.959-8T>G
|
rs763444295
|
0.00001
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
NM_018006.5(TRMU):c.579G>T (p.Gly193=)
|
rs1294405938
|
0.00001
|
NM_018668.5(VPS33B):c.456G>T (p.Leu152=)
|
rs997425993
|
0.00001
|
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)
|
rs113920122
|
0.00001
|
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)
|
rs200233879
|
0.00001
|
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)
|
rs886044572
|
0.00001
|
NM_022436.3(ABCG5):c.828G>A (p.Thr276=)
|
rs539178581
|
0.00001
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)
|
rs781689191
|
0.00001
|
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)
|
rs781999109
|
0.00001
|
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)
|
rs372751663
|
0.00001
|
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)
|
rs587748556
|
0.00001
|
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)
|
rs587654671
|
0.00001
|
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
|
rs782642000
|
0.00001
|
NM_024649.5(BBS1):c.1743C>T (p.His581=)
|
rs61890368
|
0.00001
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu)
|
rs35285441
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)
|
rs373902384
|
0.00001
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)
|
rs727504069
|
0.00001
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
NM_053025.4(MYLK):c.588+10C>T
|
rs886038709
|
0.00001
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)
|
rs1290859259
|
0.00001
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)
|
rs373208457
|
0.00001
|
NM_138694.4(PKHD1):c.642G>A (p.Gln214=)
|
rs762584715
|
0.00001
|
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
|
rs771622189
|
0.00001
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_176824.3(BBS7):c.189G>T (p.Gly63=)
|
rs541833400
|
0.00001
|
NM_176824.3(BBS7):c.213G>A (p.Leu71=)
|
rs778509860
|
0.00001
|
NM_178335.3(CCDC50):c.1430-9C>G
|
rs794727079
|
0.00001
|
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=)
|
rs370317926
|
0.00001
|
NM_182961.4(SYNE1):c.23145+6T>G
|
rs794727081
|
0.00001
|
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)
|
rs782692436
|
0.00001
|
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)
|
rs782038680
|
0.00001
|
NM_213599.3(ANO5):c.1800+5G>A
|
rs794727179
|
0.00001
|
NM_213599.3(ANO5):c.1801-9T>C
|
rs202034123
|
0.00001
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
NM_000101.4(CYBA):c.204-4C>A
|
rs377055239
|
|
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
|
rs146770394
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)
|
rs149691476
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)
|
rs375288192
|
|
NM_000287.4(PEX6):c.2301-5_2301-2del
|
rs748032659
|
|
NM_000288.4(PEX7):c.130+10C>A
|
rs794726882
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
NM_000360.4(TH):c.342G>A (p.Glu114=)
|
rs886038763
|
|
NM_000388.4(CASR):c.2901C>A (p.Ile967=)
|
rs199594582
|
|
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)
|
rs4267009
|
|
NM_000392.5(ABCC2):c.2620+10_2620+12del
|
rs764566414
|
|
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)
|
rs139082536
|
|
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=)
|
rs564908429
|
|
NM_000414.4(HSD17B4):c.1768-6_1768-4del
|
rs755128532
|
|
NM_000443.4(ABCB4):c.102G>T (p.Thr34=)
|
rs1277340029
|
|
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
|
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser)
|
rs199894506
|
|
NM_000452.3(SLC10A2):c.39T>G (p.Val13=)
|
rs201994393
|
|
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)
|
rs773569563
|
|
NM_000458.4(HNF1B):c.657C>G (p.Ser219=)
|
rs148713761
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000487.6(ARSA):c.1211-10C>T
|
rs398123413
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del)
|
rs781777438
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)
|
rs886043512
|
|
NM_000875.5(IGF1R):c.885G>T (p.Gly295=)
|
rs56303650
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
NM_001048166.1(STIL):c.873-6G>T
|
rs375670720
|
|
NM_001079802.2(FKTN):c.166-9C>T
|
rs1361772036
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)
|
rs779034609
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
NM_001083961.2(WDR62):c.1959-10A>C
|
rs767989054
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001110219.3(GJB6):c.111G>A (p.Val37=)
|
rs543659673
|
|
NM_001110556.2(FLNA):c.2826+7A>G
|
rs782545599
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
NM_001112704.2(VAX1):c.375G>C (p.Val125=)
|
rs753533789
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7])
|
rs878853632
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])
|
rs759134767
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)
|
rs1284941471
|
|
NM_001128178.3(NPHP1):c.1530-10del
|
rs779032904
|
|
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
|
rs144850331
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
NM_001128178.3(NPHP1):c.728+9G>A
|
rs1280756117
|
|
NM_001128178.3(NPHP1):c.771+58C>A
|
rs367600757
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=)
|
rs1467521069
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)
|
rs61232800
|
|
NM_001267550.2(TTN):c.30683-18_30683-9del
|
rs775388232
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)
|
rs147958315
|
|
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)
|
rs760242
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
NM_001365951.3(KIF1B):c.430-9del
|
rs771477893
|
|
NM_001374385.1(ATP8B1):c.182-5dup
|
rs34583775
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001844.5(COL2A1):c.1077C>T (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg)
|
rs546672421
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001966.4(EHHADH):c.411G>A (p.Gln137=)
|
rs148984368
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)
|
rs181711509
|
|
NM_002485.5(NBN):c.1846-11_1846-7del
|
rs1060504925
|
|
NM_002617.4(PEX10):c.333C>T (p.Leu111=)
|
rs781710848
|
|
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del)
|
rs780010436
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
|
NM_002857.4(PEX19):c.162G>A (p.Ser54=)
|
rs540593146
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)
|
rs576788910
|
|
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=)
|
rs727503981
|
|
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=)
|
rs727503980
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1])
|
rs398123736
|
|
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)
|
rs186151848
|
|
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=)
|
rs398123740
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=)
|
rs727503985
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
NM_004239.4(TRIP11):c.4892+10del
|
rs794727098
|
|
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)
|
rs56341125
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004333.6(BRAF):c.918C>G (p.Ser306=)
|
rs794727865
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004380.3(CREBBP):c.1331-12_1331-9del
|
rs765955245
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])
|
rs778220523
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=)
|
rs201913568
|
|
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)
|
rs138092189
|
|
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)
|
rs141496493
|
|
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
|
rs760152519
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_005881.4(BCKDK):c.*9C>A
|
rs199965337
|
|
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)
|
rs749970078
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)
|
rs886042352
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
NM_006859.4(LIAS):c.-1A>G
|
rs139360916
|
|
NM_007126.5(VCP):c.1896C>A (p.Ala632=)
|
rs141275388
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
NM_012210.4(TRIM32):c.319C>T (p.Leu107=)
|
rs886042410
|
|
NM_012210.4(TRIM32):c.633T>C (p.Ala211=)
|
rs753960738
|
|
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=)
|
rs559467414
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=)
|
rs187552025
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)
|
rs201219937
|
|
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)
|
rs199734111
|
|
NM_014780.5(CUL7):c.1782G>A (p.Ala594=)
|
rs369092411
|
|
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)
|
rs141674976
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
|
rs768393994
|
|
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)
|
rs201090359
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015102.5(NPHP4):c.594G>C (p.Ala198=)
|
rs141538649
|
|
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
|
rs757300247
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
NM_016356.5(DCDC2):c.543C>T (p.Ser181=)
|
rs141060456
|
|
NM_017668.3(NDE1):c.701G>A (p.Arg234His)
|
rs138255766
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
NM_022436.3(ABCG5):c.550C>T (p.Leu184=)
|
rs762951266
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)
|
rs202176869
|
|
NM_022437.3(ABCG8):c.1756+6G>A
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1756+6G>T
|
rs375563605
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)
|
rs149036937
|
|
NM_024408.4(NOTCH2):c.5781+10A>C
|
rs369586235
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=)
|
rs375417798
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=)
|
rs398124416
|
|
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
|
rs371983878
|
|
NM_032119.4(ADGRV1):c.18433-9_18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)
|
rs78817184
|
|
NM_133379.5(TTN):c.12699T>C (p.Ala4233=)
|
rs185931752
|
|
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)
|
rs1561967407
|
|
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
|
rs144841026
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.778+10C>G
|
rs1365502451
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=)
|
rs758028194
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.3697-14dup
|
rs564013823
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
NM_170699.3(GPBAR1):c.975C>A (p.Val325=)
|
rs202200326
|
|
NM_170699.3(GPBAR1):c.975C>T (p.Val325=)
|
rs202200326
|
|
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=)
|
rs116214586
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_175737.4(KLB):c.2329_2331del (p.Phe777del)
|
rs549659598
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_201384.3(PLEC):c.1002C>T (p.Ala334=)
|
rs370574829
|
|
NM_201384.3(PLEC):c.1191C>A (p.Ile397=)
|
rs781888321
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)
|
rs368660987
|
|
NM_201384.3(PLEC):c.1418+10G>C
|
rs782571969
|
|
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)
|
rs200949161
|
|
NM_201384.3(PLEC):c.6531G>A (p.Thr2177=)
|
rs782621816
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)
|
rs199758196
|
|
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=)
|
rs374270799
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
Single allele
|
|
|