NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter)
|
rs3831317
|
0.16576
|
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)
|
rs782650611
|
0.11673
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06828
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00426
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00393
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00393
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00391
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00388
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00380
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00378
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)
|
rs558084375
|
0.00366
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00364
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)
|
rs75398746
|
0.00343
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00343
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00337
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00315
|
NM_014270.5(SLC7A9):c.978-17G>A
|
rs45628833
|
0.00315
|
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)
|
rs143983247
|
0.00304
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00304
|
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu)
|
rs547921381
|
0.00302
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00293
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00283
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00279
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00279
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00273
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00261
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00247
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00245
|
NM_021020.5(LZTS1):c.88C>A (p.His30Asn)
|
rs145365423
|
0.00245
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00239
|
NM_001321739.2(M1AP):c.676dup (p.Trp226fs)
|
rs144217347
|
0.00238
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00236
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00235
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001122764.3(PPOX):c.-246G>T
|
rs114493458
|
0.00229
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00222
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_172351.3(CD46):c.926C>T (p.Pro309Leu)
|
rs41317833
|
0.00220
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00219
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn)
|
rs72650671
|
0.00211
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00198
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00196
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00193
|
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr)
|
rs147341899
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00190
|
NM_001171038.2(ASMT):c.562+2T>C
|
rs148855515
|
0.00189
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00188
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00188
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00186
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00184
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_020751.3(COG6):c.320A>T (p.Asp107Val)
|
rs146229425
|
0.00183
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00182
|
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp)
|
rs139071351
|
0.00180
|
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg)
|
rs138580420
|
0.00179
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)
|
rs33958176
|
0.00176
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00176
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)
|
rs147046379
|
0.00175
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00174
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00169
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
0.00169
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)
|
rs142438011
|
0.00168
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)
|
rs34832477
|
0.00166
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00164
|
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00164
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
0.00162
|
NM_018238.4(AGK):c.29A>G (p.Asn10Ser)
|
rs35269563
|
0.00161
|
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)
|
rs146466185
|
0.00161
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00159
|
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)
|
rs35152987
|
0.00158
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00154
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00151
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00151
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00149
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00147
|
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp)
|
rs143813189
|
0.00147
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00145
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)
|
rs146264035
|
0.00143
|
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn)
|
rs148525631
|
0.00143
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00140
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00139
|
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn)
|
rs140556652
|
0.00139
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
rs151009667
|
0.00137
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
NM_001458.5(FLNC):c.1698C>T (p.Ser566=)
|
rs112194548
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00135
|
NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
NM_005883.3(APC2):c.4958G>A (p.Arg1653Gln)
|
rs555371409
|
0.00134
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00133
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00133
|
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)
|
rs104893837
|
0.00132
|
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)
|
rs150727525
|
0.00131
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00131
|
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)
|
rs147802438
|
0.00131
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00128
|
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser)
|
rs138522639
|
0.00128
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_001376571.1(MADD):c.3481G>A (p.Ala1161Thr)
|
rs61755074
|
0.00127
|
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)
|
rs146847253
|
0.00127
|
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn)
|
rs570106950
|
0.00126
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00126
|
NM_000036.3(AMPD1):c.381+1G>C
|
rs143303736
|
0.00125
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)
|
rs767318857
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)
|
rs200611311
|
0.00121
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00120
|
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00120
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00116
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00116
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00116
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00116
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00115
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00115
|
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)
|
rs145871645
|
0.00115
|
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00113
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00113
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
NM_000163.5(GHR):c.239G>T (p.Gly80Val)
|
rs114025919
|
0.00111
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00111
|
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu)
|
rs116356543
|
0.00110
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp)
|
rs185397176
|
0.00109
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00109
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=)
|
rs368719373
|
0.00108
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)
|
rs76326086
|
0.00108
|
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)
|
rs114875539
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00107
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00107
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
NM_207037.2(TCF12):c.1465A>G (p.Met489Val)
|
rs149621019
|
0.00107
|
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
|
rs142089943
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00104
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00104
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00104
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00103
|
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val)
|
rs143443167
|
0.00103
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)
|
rs201036334
|
0.00103
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00102
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00102
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00101
|
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)
|
rs149165620
|
0.00101
|
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)
|
rs144829001
|
0.00101
|
NM_005529.7(HSPG2):c.745G>A (p.Val249Met)
|
rs148066529
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)
|
rs143189763
|
0.00100
|
NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys)
|
rs140592434
|
0.00100
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00099
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00099
|
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys)
|
rs147429960
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00098
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00097
|
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)
|
rs199843296
|
0.00097
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00096
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)
|
rs138796052
|
0.00096
|
NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu)
|
rs188158548
|
0.00096
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00096
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
NM_173689.7(CRB2):c.737G>A (p.Arg246His)
|
rs150339335
|
0.00096
|
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg)
|
rs5041
|
0.00095
|
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
|
rs187332731
|
0.00095
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00095
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
|
rs148175483
|
0.00094
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)
|
rs142582318
|
0.00093
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00093
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_001348323.3(TRIP12):c.1922C>T (p.Thr641Met)
|
rs142882915
|
0.00092
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00092
|
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met)
|
rs370663645
|
0.00091
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)
|
rs151176879
|
0.00091
|
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)
|
rs143333246
|
0.00090
|
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)
|
rs189916631
|
0.00090
|
NM_001376571.1(MADD):c.774A>G (p.Pro258=)
|
rs74698331
|
0.00090
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
NM_201384.3(PLEC):c.3434C>T (p.Thr1145Met)
|
rs200672373
|
0.00089
|
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)
|
rs187648086
|
0.00089
|
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg)
|
rs144496753
|
0.00088
|
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)
|
rs149094407
|
0.00088
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr)
|
rs201523118
|
0.00088
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00088
|
NM_000426.4(LAMA2):c.6708-3A>C
|
rs112637707
|
0.00087
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00087
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00086
|
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)
|
rs145209035
|
0.00086
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00085
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00085
|
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
|
rs138016359
|
0.00085
|
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met)
|
rs148946391
|
0.00085
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00085
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00085
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00084
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00084
|
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)
|
rs111558823
|
0.00084
|
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)
|
rs34081806
|
0.00084
|
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)
|
rs202229101
|
0.00083
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)
|
rs61756403
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00082
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00081
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser)
|
rs184563685
|
0.00081
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly)
|
rs144391535
|
0.00081
|
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val)
|
rs149963176
|
0.00081
|
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)
|
rs144139747
|
0.00081
|
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)
|
rs138791086
|
0.00081
|
NM_199242.3(UNC13D):c.610A>G (p.Met204Val)
|
rs144722609
|
0.00081
|
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)
|
rs142983846
|
0.00080
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00080
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)
|
rs200367429
|
0.00080
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00079
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00079
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)
|
rs139964603
|
0.00078
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00078
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00078
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His)
|
rs183356628
|
0.00078
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp)
|
rs149061222
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00076
|
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)
|
rs138156449
|
0.00076
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00076
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00076
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00076
|
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu)
|
rs145099391
|
0.00076
|
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)
|
rs116316900
|
0.00076
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00076
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00076
|
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala)
|
rs146977539
|
0.00076
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)
|
rs148081697
|
0.00075
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu)
|
rs137937390
|
0.00074
|
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)
|
rs200893443
|
0.00074
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys)
|
rs144539316
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00074
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00074
|
NM_003122.5(SPINK1):c.-147A>G
|
rs779832256
|
0.00074
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00074
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys)
|
rs147973409
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00073
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
|
rs186865544
|
0.00073
|
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu)
|
rs202059499
|
0.00073
|
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met)
|
rs147365925
|
0.00073
|
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)
|
rs868906137
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00072
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00072
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00072
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00072
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00071
|
NM_000369.5(TSHR):c.1783G>A (p.Val595Ile)
|
rs142632518
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)
|
rs146773641
|
0.00071
|
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)
|
rs150645738
|
0.00070
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00070
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00070
|
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)
|
rs35843015
|
0.00070
|
NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)
|
rs150856064
|
0.00070
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00070
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00070
|
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)
|
rs142169651
|
0.00070
|
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)
|
rs181292216
|
0.00069
|
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
|
rs149419129
|
0.00069
|
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)
|
rs148745414
|
0.00069
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00069
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00068
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
rs140562402
|
0.00068
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00068
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00068
|
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln)
|
rs35102652
|
0.00068
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00068
|
NM_005245.4(FAT1):c.7957G>A (p.Gly2653Ser)
|
rs200149452
|
0.00068
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro)
|
rs373042980
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)
|
rs140658201
|
0.00067
|
NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu)
|
rs115526553
|
0.00067
|
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)
|
rs148105529
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00067
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)
|
rs144207910
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser)
|
rs113695182
|
0.00066
|
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)
|
rs200611519
|
0.00066
|
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)
|
rs375568532
|
0.00066
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00065
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)
|
rs146505418
|
0.00065
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu)
|
rs142525507
|
0.00064
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
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_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)
|
rs114900922
|
0.00063
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00063
|
NM_002206.3(ITGA7):c.340A>G (p.Met114Val)
|
rs146565340
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)
|
rs35891605
|
0.00063
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00063
|
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)
|
rs137870876
|
0.00063
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00063
|
NM_000213.5(ITGB4):c.3112-3C>T
|
rs151033645
|
0.00062
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)
|
rs143614333
|
0.00062
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
0.00062
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00062
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro)
|
rs911762606
|
0.00062
|
NM_213599.3(ANO5):c.294G>A (p.Ala98=)
|
rs142858990
|
0.00062
|
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly)
|
rs144533405
|
0.00061
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)
|
rs149165006
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00061
|
NM_005883.3(APC2):c.4557G>A (p.Pro1519=)
|
rs111280997
|
0.00061
|
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)
|
rs143341678
|
0.00061
|
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)
|
rs201041716
|
0.00061
|
NM_000334.4(SCN4A):c.3774+8G>A
|
rs374806849
|
0.00060
|
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
|
rs78880369
|
0.00060
|
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
|
rs761500193
|
0.00060
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00060
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00060
|
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)
|
rs150721350
|
0.00060
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00060
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00060
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00060
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)
|
rs202016242
|
0.00059
|
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr)
|
rs34103564
|
0.00059
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00059
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00059
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00058
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00058
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00058
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00058
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_000651.6(CR1):c.5652G>A (p.Met1884Ile)
|
rs140566582
|
0.00058
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile)
|
rs534283978
|
0.00058
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00058
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)
|
rs140564189
|
0.00057
|
NM_000379.4(XDH):c.1686+1G>C
|
rs148412639
|
0.00057
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His)
|
rs577357377
|
0.00057
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00057
|
NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys)
|
rs140584449
|
0.00057
|
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
|
rs141992300
|
0.00057
|
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn)
|
rs141242566
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00057
|
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
|
rs71454844
|
0.00057
|
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)
|
rs149481974
|
0.00056
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu)
|
rs201693932
|
0.00056
|
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val)
|
rs200370953
|
0.00056
|
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)
|
rs115877658
|
0.00056
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00056
|
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)
|
rs35762515
|
0.00056
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00055
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00055
|
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)
|
rs145048530
|
0.00055
|
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)
|
rs146284370
|
0.00055
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys)
|
rs755875238
|
0.00054
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00054
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00054
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00054
|
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser)
|
rs151081625
|
0.00054
|
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His)
|
rs140392638
|
0.00054
|
NM_007215.4(POLG2):c.466A>G (p.Ile156Val)
|
rs137901677
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)
|
rs139690983
|
0.00054
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00054
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00054
|
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn)
|
rs200540800
|
0.00054
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00054
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser)
|
rs201793080
|
0.00053
|
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp)
|
rs374203151
|
0.00053
|
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met)
|
rs369319123
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)
|
rs199834369
|
0.00053
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
|
rs139244736
|
0.00052
|
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)
|
rs147013623
|
0.00052
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00052
|
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)
|
rs144042123
|
0.00052
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)
|
rs201020526
|
0.00052
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr)
|
rs201657125
|
0.00052
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp)
|
rs553885469
|
0.00051
|
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)
|
rs368075745
|
0.00051
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)
|
rs182683822
|
0.00051
|
NM_201384.3(PLEC):c.8763G>A (p.Thr2921=)
|
rs377001239
|
0.00051
|
NM_001110792.2(MECP2):c.*1368C>A
|
rs267608355
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00050
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00050
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)
|
rs150801397
|
0.00050
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00050
|
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)
|
rs140733978
|
0.00050
|
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=)
|
rs144122107
|
0.00050
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00050
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00049
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00049
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00049
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00049
|
NM_001142864.4(PIEZO1):c.6165-7G>A
|
rs141011459
|
0.00049
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00049
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
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_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00048
|
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys)
|
rs199713025
|
0.00048
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn)
|
rs139159258
|
0.00048
|
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)
|
rs202209156
|
0.00048
|
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)
|
rs202099525
|
0.00048
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)
|
rs147588579
|
0.00048
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00048
|
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)
|
rs150068594
|
0.00048
|
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)
|
rs200029869
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00048
|
NM_012210.4(TRIM32):c.*1G>A
|
rs142781513
|
0.00048
|
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)
|
rs376679880
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)
|
rs140527143
|
0.00048
|
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met)
|
rs149057410
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro)
|
rs199543859
|
0.00048
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00048
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00047
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn)
|
rs115607360
|
0.00047
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00047
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00047
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00047
|
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)
|
rs142678284
|
0.00047
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)
|
rs139576982
|
0.00047
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00046
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)
|
rs528448732
|
0.00046
|
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)
|
rs184516994
|
0.00046
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)
|
rs768517440
|
0.00046
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00046
|
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser)
|
rs111947578
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00046
|
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)
|
rs185082202
|
0.00046
|
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)
|
rs371763907
|
0.00046
|
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)
|
rs375590561
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00046
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
|
rs200488874
|
0.00045
|
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00045
|
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)
|
rs200334999
|
0.00045
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)
|
rs201165264
|
0.00045
|
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)
|
rs200724087
|
0.00045
|
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly)
|
rs56089364
|
0.00044
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00044
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)
|
rs139070796
|
0.00044
|
NM_001142864.4(PIEZO1):c.5681G>A (p.Arg1894Lys)
|
rs552401582
|
0.00044
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00044
|
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)
|
rs146237774
|
0.00044
|
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)
|
rs148788926
|
0.00044
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00044
|
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
|
rs201955081
|
0.00044
|
NM_017534.6(MYH2):c.1898-3C>T
|
rs370752980
|
0.00044
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00044
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00044
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00044
|
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn)
|
rs199833127
|
0.00044
|
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)
|
rs375465011
|
0.00044
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00043
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00043
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00043
|
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)
|
rs143884041
|
0.00043
|
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)
|
rs200225298
|
0.00043
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)
|
rs199561218
|
0.00043
|
NM_201384.3(PLEC):c.1545C>T (p.Pro515=)
|
rs199968254
|
0.00043
|
NM_000081.4(LYST):c.692A>G (p.Gln231Arg)
|
rs147433918
|
0.00042
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00042
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00042
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00042
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)
|
rs375935118
|
0.00042
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00041
|
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)
|
rs201406712
|
0.00041
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00041
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00041
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)
|
rs201685063
|
0.00041
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00041
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)
|
rs201176149
|
0.00041
|
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)
|
rs200541837
|
0.00041
|
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)
|
rs200361523
|
0.00041
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00040
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00040
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00040
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00040
|
NM_001142864.4(PIEZO1):c.1107+1G>C
|
rs199524784
|
0.00040
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
|
rs142541718
|
0.00040
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00040
|
NM_007118.4(TRIO):c.44C>T (p.Ser15Phe)
|
rs1006366530
|
0.00040
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser)
|
rs144077712
|
0.00040
|
NM_017534.6(MYH2):c.332C>T (p.Ala111Val)
|
rs140468333
|
0.00040
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00040
|
NM_032228.6(FAR1):c.1077C>G (p.Ala359=)
|
rs146816221
|
0.00040
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)
|
rs201634881
|
0.00039
|
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)
|
rs201071071
|
0.00039
|
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp)
|
rs139034513
|
0.00039
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met)
|
rs117535913
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00038
|
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)
|
rs149101001
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00038
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00038
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00038
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00038
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00038
|
NM_002972.4(SBF1):c.142-3C>T
|
rs191369963
|
0.00038
|
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)
|
rs140491601
|
0.00038
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00038
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00038
|
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met)
|
rs201455697
|
0.00038
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00038
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00037
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)
|
rs62421010
|
0.00037
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr)
|
rs149837193
|
0.00037
|
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)
|
rs756587384
|
0.00037
|
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)
|
rs144666367
|
0.00037
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00037
|
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)
|
rs140373332
|
0.00037
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00036
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys)
|
rs72653076
|
0.00036
|
NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val)
|
rs145331792
|
0.00036
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00036
|
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg)
|
rs200506892
|
0.00036
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00036
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00036
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
NM_004614.5(TK2):c.80C>T (p.Ser27Leu)
|
rs191573607
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln)
|
rs146229269
|
0.00036
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00035
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00035
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00035
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00035
|
NM_004551.3(NDUFS3):c.381+6T>C
|
rs377579231
|
0.00035
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00035
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
|
rs370351723
|
0.00034
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00034
|
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)
|
rs376616067
|
0.00034
|
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met)
|
rs200788902
|
0.00034
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)
|
rs143565222
|
0.00034
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00034
|
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)
|
rs138047529
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)
|
rs140277551
|
0.00034
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00034
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00033
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)
|
rs75326924
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00033
|
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)
|
rs151324784
|
0.00033
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00033
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00033
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00032
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00032
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)
|
rs141980692
|
0.00032
|
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His)
|
rs368915047
|
0.00032
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)
|
rs58528748
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001849.4(COL6A2):c.*4C>T
|
rs370155138
|
0.00032
|
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)
|
rs372075053
|
0.00032
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00032
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00032
|
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln)
|
rs367797077
|
0.00032
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00032
|
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)
|
rs547049916
|
0.00032
|
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)
|
rs189676187
|
0.00032
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)
|
rs398123401
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00031
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys)
|
rs182793773
|
0.00031
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00031
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00031
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)
|
rs375944265
|
0.00031
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00031
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=)
|
rs55867842
|
0.00031
|
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys)
|
rs138847501
|
0.00031
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser)
|
rs150385364
|
0.00031
|
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly)
|
rs1456197449
|
0.00031
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)
|
rs201916690
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00030
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00030
|
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)
|
rs201265160
|
0.00030
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00030
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)
|
rs374147064
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met)
|
rs141973081
|
0.00030
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00030
|
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro)
|
rs184334834
|
0.00030
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00030
|
NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro)
|
rs138840811
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)
|
rs192268080
|
0.00030
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)
|
rs371290504
|
0.00030
|
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
|
rs143328343
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000301.5(PLG):c.2302G>A (p.Glu768Lys)
|
rs199619244
|
0.00029
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00029
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)
|
rs145087575
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00029
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00029
|
NM_001267550.2(TTN):c.1212C>T (p.Tyr404=)
|
rs139187345
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
0.00029
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00029
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
|
rs141435008
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr)
|
rs149128439
|
0.00029
|
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)
|
rs138277154
|
0.00029
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
rs5742904
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)
|
rs200945025
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00028
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00028
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)
|
rs375217032
|
0.00028
|
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)
|
rs199683760
|
0.00028
|
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln)
|
rs146922115
|
0.00028
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00028
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00028
|
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)
|
rs778926161
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)
|
rs200471470
|
0.00028
|
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
|
rs150613320
|
0.00028
|
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)
|
rs201345883
|
0.00028
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00028
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00028
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00027
|
NM_000520.6(HEXA):c.1073+41C>T
|
rs367719010
|
0.00027
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00027
|
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=)
|
rs777854606
|
0.00027
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
|
rs547409918
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)
|
rs191699632
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00027
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00027
|
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr)
|
rs138521935
|
0.00027
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=)
|
rs536882233
|
0.00027
|
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)
|
rs139855779
|
0.00027
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_152305.3(POGLUT1):c.1022+5G>A
|
rs200853598
|
0.00027
|
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
|
rs200836164
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)
|
rs182849552
|
0.00027
|
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)
|
rs201387815
|
0.00027
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
0.00026
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00026
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=)
|
rs375621334
|
0.00026
|
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)
|
rs749423866
|
0.00026
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000639.3(FASLG):c.360G>C (p.Gln120His)
|
rs372615226
|
0.00026
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)
|
rs191263181
|
0.00026
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys)
|
rs201926772
|
0.00026
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00026
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
0.00026
|
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)
|
rs138689221
|
0.00026
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)
|
rs587783633
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)
|
rs201620755
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
rs199707852
|
0.00026
|
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val)
|
rs142199482
|
0.00026
|
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)
|
rs570708095
|
0.00026
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00026
|
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)
|
rs191036710
|
0.00026
|
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)
|
rs202241157
|
0.00026
|
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)
|
rs201030020
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00025
|
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)
|
rs142161945
|
0.00025
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00025
|
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu)
|
rs750141316
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00025
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00025
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00025
|
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys)
|
rs143293179
|
0.00025
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00025
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00025
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln)
|
rs150423237
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00025
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00025
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)
|
rs201868142
|
0.00025
|
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)
|
rs149626892
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)
|
rs782312793
|
0.00025
|
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)
|
rs373617951
|
0.00025
|
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys)
|
rs781936848
|
0.00025
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln)
|
rs199752361
|
0.00024
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00024
|
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)
|
rs145513733
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=)
|
rs373851693
|
0.00024
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00024
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00024
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00024
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
|
rs373593599
|
0.00024
|
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)
|
rs138503916
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)
|
rs150901100
|
0.00024
|
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=)
|
rs138957986
|
0.00024
|
NM_005529.7(HSPG2):c.8025+20C>T
|
rs146363738
|
0.00024
|
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)
|
rs372508479
|
0.00024
|
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg)
|
rs782560726
|
0.00024
|
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)
|
rs542940704
|
0.00024
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00024
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)
|
rs139155910
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp)
|
rs192022872
|
0.00024
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00023
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00023
|
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
|
rs149362848
|
0.00023
|
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)
|
rs75731670
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
|
rs189261858
|
0.00023
|
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00023
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00023
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00023
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001375524.1(TRRAP):c.634-3C>T
|
rs113339948
|
0.00023
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00023
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00023
|
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)
|
rs143531636
|
0.00023
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00023
|
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)
|
rs368380934
|
0.00023
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00023
|
NM_004752.4(GCM2):c.1395C>T (p.His465=)
|
rs139538731
|
0.00023
|
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln)
|
rs374404353
|
0.00023
|
NM_005996.4(TBX3):c.700A>G (p.Ile234Val)
|
rs117465019
|
0.00023
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00023
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00023
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00023
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00023
|
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)
|
rs370003608
|
0.00023
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00022
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_000379.4(XDH):c.1037C>T (p.Ala346Val)
|
rs142388231
|
0.00022
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
0.00022
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
0.00022
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
rs201762017
|
0.00022
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_001164508.2(NEB):c.12718G>A (p.Ala4240Thr)
|
rs561736266
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00022
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001457.4(FLNB):c.4062-13C>G
|
rs143371162
|
0.00022
|
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)
|
rs150832314
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004168.4(SDHA):c.-2A>T
|
rs763680697
|
0.00022
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)
|
rs546499094
|
0.00022
|
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)
|
rs200247956
|
0.00022
|
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly)
|
rs368132877
|
0.00022
|
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)
|
rs143155251
|
0.00022
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)
|
rs551750608
|
0.00022
|
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)
|
rs376507352
|
0.00022
|
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
|
rs142598777
|
0.00022
|
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)
|
rs372256096
|
0.00022
|
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)
|
rs201024919
|
0.00021
|
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)
|
rs200665694
|
0.00021
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00021
|
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)
|
rs143473912
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp)
|
rs959344565
|
0.00021
|
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)
|
rs149102421
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00021
|
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)
|
rs376613199
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)
|
rs727504192
|
0.00021
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)
|
rs369637193
|
0.00021
|
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr)
|
rs368601054
|
0.00021
|
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)
|
rs146595129
|
0.00021
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
0.00021
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00021
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00021
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00021
|
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)
|
rs145972324
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00021
|
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro)
|
rs141833472
|
0.00021
|
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His)
|
rs563033366
|
0.00021
|
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)
|
rs144138766
|
0.00021
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00021
|
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)
|
rs147415811
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00021
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)
|
rs201928401
|
0.00021
|
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)
|
rs200128670
|
0.00021
|
NM_201384.3(PLEC):c.885G>A (p.Met295Ile)
|
rs201041690
|
0.00021
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00020
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00020
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00020
|
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
|
rs142905862
|
0.00020
|
NM_000426.4(LAMA2):c.8988+15T>C
|
rs201041465
|
0.00020
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
|
rs753862254
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)
|
rs367816473
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00020
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00020
|
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)
|
rs201818373
|
0.00020
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547
|
0.00020
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00020
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)
|
rs147741842
|
0.00019
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00019
|
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
|
rs371904688
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00019
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00019
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00019
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00019
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys)
|
rs139351727
|
0.00019
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
rs141673997
|
0.00019
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00019
|
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)
|
rs191656849
|
0.00019
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
NM_000553.6(WRN):c.835C>T (p.Arg279Trp)
|
rs199923241
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)
|
rs367776636
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001142864.4(PIEZO1):c.3631C>T (p.Arg1211Cys)
|
rs142506765
|
0.00019
|
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile)
|
rs776788949
|
0.00019
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
NM_001142864.4(PIEZO1):c.7420G>A (p.Val2474Met)
|
rs200243384
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)
|
rs72629782
|
0.00019
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00019
|
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln)
|
rs267599059
|
0.00019
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)
|
rs145940356
|
0.00019
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)
|
rs200700386
|
0.00019
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His)
|
rs374605213
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)
|
rs374764110
|
0.00019
|
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)
|
rs377612718
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.98385T>G (p.Ser32795Arg)
|
rs373396567
|
0.00019
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00019
|
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)
|
rs375816870
|
0.00019
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00019
|
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val)
|
rs200930248
|
0.00019
|
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)
|
rs370035829
|
0.00019
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)
|
rs200714716
|
0.00019
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00019
|
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys)
|
rs200997062
|
0.00019
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00019
|
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)
|
rs769903041
|
0.00019
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val)
|
rs373986368
|
0.00019
|
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)
|
rs139691540
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)
|
rs376297358
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)
|
rs34415548
|
0.00019
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00019
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00019
|
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)
|
rs372150492
|
0.00019
|
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)
|
rs201466326
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)
|
rs142143178
|
0.00019
|
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)
|
rs376081492
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00018
|
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)
|
rs778439872
|
0.00018
|
NM_000324.3(RHAG):c.1101C>T (p.Ser367=)
|
rs139371066
|
0.00018
|
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)
|
rs141911213
|
0.00018
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00018
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)
|
rs776899398
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00018
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00018
|
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser)
|
rs201221237
|
0.00018
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00018
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00018
|
NM_014915.3(ANKRD26):c.2325A>G (p.Ser775=)
|
rs374641885
|
0.00018
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00018
|
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)
|
rs200986136
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
|
rs148275567
|
0.00017
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00017
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00017
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00017
|
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)
|
rs140517911
|
0.00017
|
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser)
|
rs145054469
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00017
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00017
|
NM_000540.3(RYR1):c.2679C>G (p.Gly893=)
|
rs765657226
|
0.00017
|
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp)
|
rs72549334
|
0.00017
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00017
|
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg)
|
rs142027562
|
0.00017
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)
|
rs770023115
|
0.00017
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00017
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00017
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00017
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00017
|
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)
|
rs370048456
|
0.00017
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00017
|
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)
|
rs375141729
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)
|
rs373867080
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00017
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00017
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00017
|
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00017
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00017
|
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)
|
rs200243548
|
0.00017
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00017
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00017
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met)
|
rs140646346
|
0.00017
|
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)
|
rs202146344
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His)
|
rs150629598
|
0.00017
|
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)
|
rs367762942
|
0.00017
|
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)
|
rs77146441
|
0.00017
|
NM_201384.3(PLEC):c.4652G>A (p.Arg1551His)
|
rs374991369
|
0.00017
|
NM_201384.3(PLEC):c.4800C>T (p.His1600=)
|
rs149044728
|
0.00017
|
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)
|
rs561571844
|
0.00017
|
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)
|
rs371673069
|
0.00017
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)
|
rs201205904
|
0.00016
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)
|
rs756353660
|
0.00016
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00016
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu)
|
rs201588259
|
0.00016
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe)
|
rs747972920
|
0.00016
|
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser)
|
rs543115615
|
0.00016
|
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=)
|
rs751557941
|
0.00016
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00016
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr)
|
rs756640084
|
0.00016
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00016
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00016
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00016
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)
|
rs142129359
|
0.00016
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00016
|
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)
|
rs181766682
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)
|
rs375403439
|
0.00016
|
NM_001286577.2(C2CD3):c.3911-2A>T
|
rs149366137
|
0.00016
|
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)
|
rs375887656
|
0.00016
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
0.00016
|
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg)
|
rs200215903
|
0.00016
|
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
0.00016
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn)
|
rs150051812
|
0.00016
|
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
|
rs34044544
|
0.00016
|
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)
|
rs544332057
|
0.00016
|
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)
|
rs201844450
|
0.00016
|
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)
|
rs142133195
|
0.00016
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)
|
rs147858673
|
0.00016
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00016
|
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met)
|
rs146462440
|
0.00016
|
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
|
rs143437991
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser)
|
rs749852883
|
0.00016
|
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg)
|
rs202081167
|
0.00016
|
NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp)
|
rs556784868
|
0.00016
|
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr)
|
rs200539540
|
0.00016
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00016
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00016
|
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)
|
rs201827208
|
0.00016
|
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)
|
rs74315289
|
0.00016
|
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00016
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00016
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)
|
rs373952777
|
0.00016
|
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)
|
rs200949161
|
0.00016
|
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His)
|
rs552039931
|
0.00016
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00015
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00015
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
0.00015
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00015
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00015
|
NM_000287.4(PEX6):c.543G>A (p.Val181=)
|
rs368560418
|
0.00015
|
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
|
rs201190252
|
0.00015
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00015
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00015
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00015
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00015
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His)
|
rs774090082
|
0.00015
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
rs547120028
|
0.00015
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00015
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00015
|
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)
|
rs199620003
|
0.00015
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00015
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00015
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00015
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00015
|
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)
|
rs372075439
|
0.00015
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00015
|
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)
|
rs376283153
|
0.00015
|
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del)
|
rs778364983
|
0.00015
|
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)
|
rs746309005
|
0.00015
|
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu)
|
rs374899663
|
0.00015
|
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala)
|
rs147314754
|
0.00015
|
NM_001330360.2(POLA1):c.2348C>T (p.Ser783Phe)
|
rs367639262
|
0.00015
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00015
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)
|
rs189796608
|
0.00015
|
NM_001457.4(FLNB):c.3631G>A (p.Glu1211Lys)
|
rs147162135
|
0.00015
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00015
|
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys)
|
rs201395636
|
0.00015
|
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)
|
rs200167311
|
0.00015
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00015
|
NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys)
|
rs150853451
|
0.00015
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00015
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00015
|
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)
|
rs201927283
|
0.00015
|
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His)
|
rs370252248
|
0.00015
|
NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His)
|
rs372070386
|
0.00015
|
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly)
|
rs139187222
|
0.00015
|
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)
|
rs201427580
|
0.00015
|
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met)
|
rs373690979
|
0.00015
|
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)
|
rs374946613
|
0.00015
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_201384.3(PLEC):c.10472G>A (p.Arg3491His)
|
rs374469690
|
0.00015
|
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)
|
rs377150241
|
0.00015
|
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)
|
rs368152307
|
0.00015
|
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)
|
rs200652637
|
0.00015
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00014
|
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)
|
rs376112375
|
0.00014
|
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)
|
rs148371004
|
0.00014
|
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)
|
rs201919331
|
0.00014
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
0.00014
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)
|
rs141950826
|
0.00014
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)
|
rs868678918
|
0.00014
|
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr)
|
rs368328716
|
0.00014
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00014
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)
|
rs190192954
|
0.00014
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr)
|
rs371538856
|
0.00014
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
0.00014
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)
|
rs532844402
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)
|
rs543275318
|
0.00014
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)
|
rs201688358
|
0.00014
|
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)
|
rs149338478
|
0.00014
|
NM_001370595.2(COA8):c.85G>A (p.Glu29Lys)
|
rs535382401
|
0.00014
|
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys)
|
rs149638325
|
0.00014
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys)
|
rs376552785
|
0.00014
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
NM_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn)
|
rs576803383
|
0.00014
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg)
|
rs372600090
|
0.00014
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)
|
rs201874248
|
0.00014
|
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)
|
rs184647895
|
0.00014
|
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)
|
rs570850437
|
0.00014
|
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)
|
rs199535268
|
0.00014
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)
|
rs193229946
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00014
|
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)
|
rs199860789
|
0.00014
|
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser)
|
rs373880647
|
0.00014
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)
|
rs781836500
|
0.00014
|
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)
|
rs368212208
|
0.00014
|
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)
|
rs369344419
|
0.00014
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00013
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00013
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00013
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00013
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)
|
rs199893058
|
0.00013
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00013
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00013
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00013
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00013
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000522.5(HOXA13):c.196G>T (p.Ala66Ser)
|
rs773516831
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met)
|
rs771523641
|
0.00013
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00013
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)
|
rs570130189
|
0.00013
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
NM_001164508.2(NEB):c.9195C>T (p.His3065=)
|
rs374734631
|
0.00013
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00013
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00013
|
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val)
|
rs373683445
|
0.00013
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn)
|
rs768932465
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe)
|
rs200587998
|
0.00013
|
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
|
rs373753003
|
0.00013
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00013
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00013
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)
|
rs201337786
|
0.00013
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)
|
rs370080086
|
0.00013
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00013
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.91426G>A (p.Val30476Ile)
|
rs377531244
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)
|
rs776679937
|
0.00013
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00013
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00013
|
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr)
|
rs566858747
|
0.00013
|
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)
|
rs371193436
|
0.00013
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00013
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00013
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro)
|
rs535692036
|
0.00013
|
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)
|
rs117350233
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00013
|
NM_005529.7(HSPG2):c.3857A>G (p.Gln1286Arg)
|
rs199788526
|
0.00013
|
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys)
|
rs373448635
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00013
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00013
|
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
|
rs137852991
|
0.00013
|
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)
|
rs368995503
|
0.00013
|
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu)
|
rs147523309
|
0.00013
|
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser)
|
rs199888171
|
0.00013
|
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu)
|
rs549883296
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)
|
rs149027078
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00013
|
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)
|
rs566953005
|
0.00013
|
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)
|
rs564245730
|
0.00013
|
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His)
|
rs368343687
|
0.00013
|
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)
|
rs376753842
|
0.00013
|
NM_201384.3(PLEC):c.9841G>A (p.Val3281Met)
|
rs202005454
|
0.00013
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00013
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00013
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00012
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
|
rs201106245
|
0.00012
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00012
|
NM_000444.6(PHEX):c.185C>T (p.Ala62Val)
|
rs145393882
|
0.00012
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00012
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00012
|
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn)
|
rs267606761
|
0.00012
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00012
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00012
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr)
|
rs556492694
|
0.00012
|
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys)
|
rs1346076883
|
0.00012
|
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974
|
0.00012
|
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)
|
rs201141064
|
0.00012
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)
|
rs200395305
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00012
|
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)
|
rs184923756
|
0.00012
|
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)
|
rs182720979
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)
|
rs202206216
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)
|
rs370516890
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)
|
rs375667028
|
0.00012
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00012
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00012
|
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)
|
rs1246114252
|
0.00012
|
NM_003466.4(PAX8):c.346G>A (p.Val116Ile)
|
rs764623767
|
0.00012
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)
|
rs201491948
|
0.00012
|
NM_012470.4(TNPO3):c.857G>A (p.Arg286His)
|
rs140709222
|
0.00012
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00012
|
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg)
|
rs143196787
|
0.00012
|
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)
|
rs202198533
|
0.00012
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)
|
rs753488873
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_022173.4(TIA1):c.1078G>A (p.Val360Met)
|
rs201905164
|
0.00012
|
NM_032237.5(POMK):c.760G>A (p.Val254Met)
|
rs34715198
|
0.00012
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)
|
rs148300854
|
0.00012
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00012
|
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)
|
rs375497206
|
0.00012
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00012
|
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)
|
rs988224463
|
0.00012
|
NM_198576.4(AGRN):c.1557C>T (p.Ala519=)
|
rs146185843
|
0.00012
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00012
|
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)
|
rs375724891
|
0.00012
|
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)
|
rs375617818
|
0.00012
|
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)
|
rs376494828
|
0.00012
|
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg)
|
rs373741981
|
0.00012
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00012
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000188.3(HK1):c.1015G>A (p.Val339Met)
|
rs138492927
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)
|
rs777168937
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=)
|
rs143078882
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)
|
rs142848358
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val)
|
rs150539474
|
0.00011
|
NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys)
|
rs746213600
|
0.00011
|
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His)
|
rs371267171
|
0.00011
|
NM_001142864.4(PIEZO1):c.440G>A (p.Arg147Gln)
|
rs1021076058
|
0.00011
|
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu)
|
rs373829936
|
0.00011
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00011
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00011
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00011
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)
|
rs375577529
|
0.00011
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00011
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)
|
rs138750421
|
0.00011
|
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)
|
rs201945791
|
0.00011
|
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)
|
rs370418677
|
0.00011
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00011
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00011
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00011
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00011
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)
|
rs371286595
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)
|
rs201818722
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00011
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)
|
rs372784067
|
0.00011
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00011
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)
|
rs138958733
|
0.00011
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00011
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00011
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
NM_001267550.2(TTN):c.94593G>A (p.Ala31531=)
|
rs373301015
|
0.00011
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
NM_001332.4(CTNND2):c.593C>T (p.Thr198Met)
|
rs141302945
|
0.00011
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00011
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00011
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_002437.5(MPV17):c.186+2T>C
|
rs147952488
|
0.00011
|
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)
|
rs188270548
|
0.00011
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00011
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00011
|
NM_003482.4(KMT2D):c.14643+3A>T
|
rs374232950
|
0.00011
|
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=)
|
rs145160213
|
0.00011
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe)
|
rs141725839
|
0.00011
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00011
|
NM_005228.5(EGFR):c.61G>A (p.Ala21Thr)
|
rs373129709
|
0.00011
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
rs201389731
|
0.00011
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
NM_006017.3(PROM1):c.2490-2A>G
|
rs375813885
|
0.00011
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)
|
rs200997003
|
0.00011
|
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val)
|
rs372808360
|
0.00011
|
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val)
|
rs377404952
|
0.00011
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)
|
rs555126484
|
0.00011
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
|
rs539364383
|
0.00011
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)
|
rs199689137
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu)
|
rs201203517
|
0.00011
|
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)
|
rs200535361
|
0.00011
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00011
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00011
|
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His)
|
rs200386096
|
0.00011
|
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
|
rs145874555
|
0.00011
|
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)
|
rs201269146
|
0.00011
|
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
|
rs145018323
|
0.00011
|
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)
|
rs773841153
|
0.00011
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00011
|
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met)
|
rs202001247
|
0.00011
|
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)
|
rs375573910
|
0.00011
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00011
|
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)
|
rs201163149
|
0.00011
|
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)
|
rs782756146
|
0.00011
|
NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser)
|
rs782618187
|
0.00011
|
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp)
|
rs962321651
|
0.00011
|
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)
|
rs527947459
|
0.00011
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00011
|
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)
|
rs200618217
|
0.00011
|
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)
|
rs369522291
|
0.00011
|
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)
|
rs552713184
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00011
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser)
|
rs779247451
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
|
rs104893684
|
0.00010
|
NM_000081.4(LYST):c.2826A>G (p.Pro942=)
|
rs149558986
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)
|
rs376833596
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val)
|
rs768834542
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00010
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)
|
rs193922808
|
0.00010
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000553.6(WRN):c.514A>C (p.Thr172Pro)
|
rs367991517
|
0.00010
|
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)
|
rs121434407
|
0.00010
|
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
|
rs375463904
|
0.00010
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001142864.4(PIEZO1):c.4364C>T (p.Ala1455Val)
|
rs779308700
|
0.00010
|
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)
|
rs570744198
|
0.00010
|
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)
|
rs376267080
|
0.00010
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)
|
rs551905996
|
0.00010
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln)
|
rs200792058
|
0.00010
|
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)
|
rs200359082
|
0.00010
|
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)
|
rs571231816
|
0.00010
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)
|
rs144587343
|
0.00010
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00010
|
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe)
|
rs551911856
|
0.00010
|
NM_001267550.2(TTN):c.39606A>G (p.Pro13202=)
|
rs372356060
|
0.00010
|
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
|
rs369709751
|
0.00010
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)
|
rs730880239
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00010
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00010
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00010
|
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)
|
rs372407708
|
0.00010
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)
|
rs774296358
|
0.00010
|
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)
|
rs752027721
|
0.00010
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00010
|
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)
|
rs567795279
|
0.00010
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)
|
rs192004962
|
0.00010
|
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)
|
rs143914684
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His)
|
rs189089389
|
0.00010
|
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr)
|
rs145474376
|
0.00010
|
NM_005548.3(KARS1):c.222+10C>T
|
rs374496494
|
0.00010
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)
|
rs782210973
|
0.00010
|
NM_014727.3(KMT2B):c.1303C>G (p.Pro435Ala)
|
rs748073369
|
0.00010
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
0.00010
|
NM_015559.3(SETBP1):c.575A>G (p.His192Arg)
|
rs569466922
|
0.00010
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)
|
rs751186949
|
0.00010
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)
|
rs376487875
|
0.00010
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00010
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)
|
rs140352254
|
0.00010
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro)
|
rs771777757
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_176787.5(PIGN):c.548_549+6del
|
rs779636222
|
0.00010
|
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)
|
rs370800852
|
0.00010
|
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)
|
rs782767733
|
0.00010
|
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)
|
rs573424409
|
0.00010
|
NM_201384.3(PLEC):c.2458-7G>A
|
rs372799330
|
0.00010
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00010
|
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)
|
rs200680102
|
0.00010
|
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)
|
rs201460864
|
0.00010
|
NM_203447.4(DOCK8):c.3234+2T>C
|
rs756871628
|
0.00010
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)
|
rs142542271
|
0.00009
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
0.00009
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00009
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00009
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00009
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00009
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)
|
rs766463226
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)
|
rs9332967
|
0.00009
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00009
|
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)
|
rs72558200
|
0.00009
|
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
|
rs546653967
|
0.00009
|
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
|
rs142527052
|
0.00009
|
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp)
|
rs138695453
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
rs201573863
|
0.00009
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
NM_000540.3(RYR1):c.4185C>T (p.Val1395=)
|
rs761955179
|
0.00009
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=)
|
rs200068725
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001046.3(SLC12A2):c.449C>T (p.Ser150Leu)
|
rs114437564
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00009
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)
|
rs768775204
|
0.00009
|
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His)
|
rs534638031
|
0.00009
|
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr)
|
rs756364348
|
0.00009
|
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu)
|
rs766429217
|
0.00009
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001171613.2(PREPL):c.1753+1G>T
|
rs148092524
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met)
|
rs141139944
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)
|
rs552058608
|
0.00009
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00009
|
NM_001267550.2(TTN):c.14518A>C (p.Asn4840His)
|
rs199997460
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)
|
rs371267140
|
0.00009
|
NM_001267550.2(TTN):c.22312C>T (p.Leu7438Phe)
|
rs371114946
|
0.00009
|
NM_001267550.2(TTN):c.22667G>A (p.Arg7556His)
|
rs374344734
|
0.00009
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)
|
rs199598066
|
0.00009
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)
|
rs72647861
|
0.00009
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)
|
rs766391823
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)
|
rs368026488
|
0.00009
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)
|
rs372685222
|
0.00009
|
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)
|
rs56378177
|
0.00009
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)
|
rs373204984
|
0.00009
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)
|
rs753966916
|
0.00009
|
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)
|
rs750806089
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)
|
rs759474127
|
0.00009
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00009
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)
|
rs375533809
|
0.00009
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met)
|
rs764571605
|
0.00009
|
NM_001355436.2(SPTB):c.65G>A (p.Arg22His)
|
rs200116664
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
0.00009
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr)
|
rs565918031
|
0.00009
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00009
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn)
|
rs146388120
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val)
|
rs781467355
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_003737.4(DCHS1):c.8043C>T (p.Asp2681=)
|
rs549044948
|
0.00009
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00009
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met)
|
rs200285714
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00009
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00009
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_005562.3(LAMC2):c.1039C>T (p.Arg347Cys)
|
rs188149266
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)
|
rs533757634
|
0.00009
|
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)
|
rs200790641
|
0.00009
|
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)
|
rs199422214
|
0.00009
|
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)
|
rs765114036
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00009
|
NM_007327.4(GRIN1):c.610G>A (p.Val204Met)
|
rs140422926
|
0.00009
|
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)
|
rs139008774
|
0.00009
|
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter)
|
rs184745027
|
0.00009
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
NM_016327.3(UPB1):c.873+1G>A
|
rs747539101
|
0.00009
|
NM_017534.6(MYH2):c.1566C>T (p.Ala522=)
|
rs142383679
|
0.00009
|
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln)
|
rs373114735
|
0.00009
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)
|
rs200078740
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00009
|
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr)
|
rs555600636
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu)
|
rs143640165
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile)
|
rs758366698
|
0.00009
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00009
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)
|
rs761998546
|
0.00009
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00009
|
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu)
|
rs377598440
|
0.00009
|
NM_201384.3(PLEC):c.12465C>T (p.Tyr4155=)
|
rs773080070
|
0.00009
|
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)
|
rs375593618
|
0.00009
|
NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys)
|
rs200447944
|
0.00009
|
NM_213599.3(ANO5):c.1332+8A>G
|
rs368857740
|
0.00009
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00008
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00008
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00008
|
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)
|
rs121917868
|
0.00008
|
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met)
|
rs2227872
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00008
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00008
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00008
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)
|
rs1057520588
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=)
|
rs376482004
|
0.00008
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
|
rs373901523
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)
|
rs199849117
|
0.00008
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)
|
rs549598246
|
0.00008
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
NM_001267550.2(TTN):c.28354G>A (p.Ala9452Thr)
|
rs527663092
|
0.00008
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00008
|
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)
|
rs147020824
|
0.00008
|
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His)
|
rs539470256
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)
|
rs377563403
|
0.00008
|
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)
|
rs746817480
|
0.00008
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)
|
rs377203669
|
0.00008
|
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)
|
rs778703530
|
0.00008
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00008
|
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)
|
rs558955595
|
0.00008
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00008
|
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)
|
rs373909196
|
0.00008
|
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)
|
rs373129706
|
0.00008
|
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu)
|
rs370265204
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001267550.2(TTN):c.95462A>G (p.Lys31821Arg)
|
rs372388579
|
0.00008
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001363711.2(DUOX2):c.3693+1G>T
|
rs200717240
|
0.00008
|
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met)
|
rs189785975
|
0.00008
|
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)
|
rs376772481
|
0.00008
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00008
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser)
|
rs200293444
|
0.00008
|
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His)
|
rs750860161
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004006.3(DMD):c.733A>G (p.Ile245Val)
|
rs140510985
|
0.00008
|
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
|
rs201361100
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00008
|
NM_005901.6(SMAD2):c.579G>A (p.Leu193=)
|
rs200480021
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_006662.3(SRCAP):c.1135-2A>G
|
rs149689808
|
0.00008
|
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)
|
rs1127511
|
0.00008
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00008
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00008
|
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
|
rs764496155
|
0.00008
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00008
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala)
|
rs398124408
|
0.00008
|
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile)
|
rs763175161
|
0.00008
|
NM_032237.5(POMK):c.704A>G (p.Asn235Ser)
|
rs200742772
|
0.00008
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)
|
rs200635355
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys)
|
rs751734028
|
0.00008
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00008
|
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg)
|
rs376121197
|
0.00008
|
NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln)
|
rs781960031
|
0.00008
|
NM_201384.3(PLEC):c.1506G>C (p.Gln502His)
|
rs571497788
|
0.00008
|
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)
|
rs782026068
|
0.00008
|
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)
|
rs367679924
|
0.00008
|
NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn)
|
rs374776968
|
0.00008
|
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)
|
rs373831849
|
0.00008
|
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)
|
rs201349099
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NC_000001.11:g.114695547A>G
|
rs377496676
|
0.00007
|
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)
|
rs376789465
|
0.00007
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
rs141787797
|
0.00007
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00007
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
0.00007
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00007
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00007
|
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)
|
rs201611359
|
0.00007
|
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
|
rs55637644
|
0.00007
|
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr)
|
rs566929141
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00007
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000518.5(HBB):c.93-38G>A
|
rs370724350
|
0.00007
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
rs146200173
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00007
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00007
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00007
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00007
|
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys)
|
rs141109968
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)
|
rs773739293
|
0.00007
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)
|
rs142545002
|
0.00007
|
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)
|
rs782727618
|
0.00007
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142864.4(PIEZO1):c.1196-4G>C
|
rs946453254
|
0.00007
|
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys)
|
rs750545429
|
0.00007
|
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
|
rs755722952
|
0.00007
|
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys)
|
rs546108970
|
0.00007
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)
|
rs758458467
|
0.00007
|
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)
|
rs143499441
|
0.00007
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00007
|
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)
|
rs146828735
|
0.00007
|
NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser)
|
rs1024577519
|
0.00007
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00007
|
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)
|
rs550882549
|
0.00007
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00007
|
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)
|
rs374930292
|
0.00007
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
0.00007
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro)
|
rs752629624
|
0.00007
|
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)
|
rs374563054
|
0.00007
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00007
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00007
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00007
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00007
|
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)
|
rs55853138
|
0.00007
|
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val)
|
rs776911847
|
0.00007
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)
|
rs368058280
|
0.00007
|
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile)
|
rs766753906
|
0.00007
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00007
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00007
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00007
|
NM_001303.4(COX10):c.1007A>T (p.Asp336Val)
|
rs104894557
|
0.00007
|
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)
|
rs373062274
|
0.00007
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)
|
rs775496136
|
0.00007
|
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)
|
rs370042010
|
0.00007
|
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
0.00007
|
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
|
rs202209298
|
0.00007
|
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)
|
rs568865339
|
0.00007
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00007
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
rs569816517
|
0.00007
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00007
|
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)
|
rs759520932
|
0.00007
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00007
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)
|
rs375915416
|
0.00007
|
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu)
|
rs17851923
|
0.00007
|
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)
|
rs373898385
|
0.00007
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00007
|
NM_004525.3(LRP2):c.3285C>T (p.Gly1095=)
|
rs986671553
|
0.00007
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
0.00007
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00007
|
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp)
|
rs535956121
|
0.00007
|
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=)
|
rs781013408
|
0.00007
|
NM_005573.4(LMNB1):c.814-3T>C
|
rs372984423
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)
|
rs201793200
|
0.00007
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00007
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00007
|
NM_007059.4(KPTN):c.394+1G>A
|
rs373139784
|
0.00007
|
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr)
|
rs575240073
|
0.00007
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00007
|
NM_020166.5(MCCC1):c.1681+2dup
|
rs774352286
|
0.00007
|
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)
|
rs200683247
|
0.00007
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)
|
rs533000838
|
0.00007
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00007
|
NM_032415.7(CARD11):c.1994C>T (p.Ser665Leu)
|
rs147823569
|
0.00007
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)
|
rs201975081
|
0.00007
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)
|
rs141566041
|
0.00007
|
NM_152722.5(HEPACAM):c.115C>T (p.Pro39Ser)
|
rs545531081
|
0.00007
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00007
|
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp)
|
rs575676072
|
0.00007
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
rs564427867
|
0.00007
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
|
rs35763782
|
0.00007
|
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
|
rs773994020
|
0.00007
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00007
|
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
|
rs201964784
|
0.00007
|
NM_201384.3(PLEC):c.1123G>A (p.Val375Met)
|
rs199866423
|
0.00007
|
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)
|
rs562934299
|
0.00007
|
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val)
|
rs782216341
|
0.00007
|
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)
|
rs370347438
|
0.00007
|
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)
|
rs368318946
|
0.00007
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00007
|
NC_000021.9:g.45405398C>T
|
rs754075778
|
0.00006
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile)
|
rs772482624
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)
|
rs553619980
|
0.00006
|
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)
|
rs200646947
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)
|
rs199470444
|
0.00006
|
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
|
rs1482156206
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)
|
rs179363892
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
NM_000270.4(PNP):c.701G>C (p.Arg234Pro)
|
rs104894451
|
0.00006
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000324.3(RHAG):c.187G>C (p.Val63Leu)
|
rs778934246
|
0.00006
|
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)
|
rs150158100
|
0.00006
|
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)
|
rs368186423
|
0.00006
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00006
|
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)
|
rs144071404
|
0.00006
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
rs148181903
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000540.3(RYR1):c.7992C>T (p.Phe2664=)
|
rs150620191
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00006
|
NM_001010867.4(IBA57):c.679+3A>G
|
rs754620334
|
0.00006
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
rs574858955
|
0.00006
|
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)
|
rs757903559
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)
|
rs767656648
|
0.00006
|
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)
|
rs13306666
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)
|
rs375623472
|
0.00006
|
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)
|
rs200248814
|
0.00006
|
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
|
rs142498180
|
0.00006
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
|
rs544281438
|
0.00006
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)
|
rs758996758
|
0.00006
|
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=)
|
rs1390774664
|
0.00006
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)
|
rs764179161
|
0.00006
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)
|
rs769369764
|
0.00006
|
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)
|
rs752226947
|
0.00006
|
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met)
|
rs199564845
|
0.00006
|
NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu)
|
rs374493881
|
0.00006
|
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)
|
rs764832849
|
0.00006
|
NM_001267550.2(TTN):c.22576G>T (p.Val7526Phe)
|
rs754972548
|
0.00006
|
NM_001267550.2(TTN):c.23068G>A (p.Ala7690Thr)
|
rs763029699
|
0.00006
|
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)
|
rs188234466
|
0.00006
|
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)
|
rs746558975
|
0.00006
|
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)
|
rs766638714
|
0.00006
|
NM_001267550.2(TTN):c.29960T>A (p.Ile9987Asn)
|
rs376644553
|
0.00006
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00006
|
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)
|
rs750278602
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)
|
rs201390600
|
0.00006
|
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile)
|
rs778014249
|
0.00006
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)
|
rs571524382
|
0.00006
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)
|
rs199910114
|
0.00006
|
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)
|
rs768914789
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)
|
rs770902874
|
0.00006
|
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)
|
rs573695008
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
NM_001267550.2(TTN):c.55037G>T (p.Arg18346Ile)
|
rs573136400
|
0.00006
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)
|
rs373153121
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00006
|
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)
|
rs371988490
|
0.00006
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)
|
rs561183059
|
0.00006
|
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro)
|
rs367838375
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp)
|
rs745719077
|
0.00006
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)
|
rs200191748
|
0.00006
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)
|
rs760633130
|
0.00006
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00006
|
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)
|
rs761409144
|
0.00006
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)
|
rs370272814
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)
|
rs556000493
|
0.00006
|
NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile)
|
rs759737599
|
0.00006
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)
|
rs374119634
|
0.00006
|
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)
|
rs727504693
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
NM_001267550.2(TTN):c.919G>A (p.Val307Met)
|
rs371056974
|
0.00006
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)
|
rs762160311
|
0.00006
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00006
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)
|
rs119472028
|
0.00006
|
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp)
|
rs201590426
|
0.00006
|
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)
|
rs41268671
|
0.00006
|
NM_001378457.1(DMXL2):c.7393-15T>C
|
rs746954557
|
0.00006
|
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)
|
rs370198850
|
0.00006
|
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
|
rs373105258
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00006
|
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)
|
rs778287981
|
0.00006
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
0.00006
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
rs782177423
|
0.00006
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln)
|
rs772010347
|
0.00006
|
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)
|
rs199981454
|
0.00006
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00006
|
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)
|
rs144718274
|
0.00006
|
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)
|
rs772570880
|
0.00006
|
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)
|
rs777100532
|
0.00006
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00006
|
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=)
|
rs574228980
|
0.00006
|
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)
|
rs780568525
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005529.7(HSPG2):c.11770+10G>A
|
rs746954804
|
0.00006
|
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr)
|
rs370487132
|
0.00006
|
NM_006121.4(KRT1):c.78C>T (p.Asn26=)
|
rs184313837
|
0.00006
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
0.00006
|
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His)
|
rs121918302
|
0.00006
|
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)
|
rs942559171
|
0.00006
|
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr)
|
rs201911936
|
0.00006
|
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
|
rs202190131
|
0.00006
|
NM_015559.3(SETBP1):c.3834G>C (p.Leu1278=)
|
rs560028623
|
0.00006
|
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe)
|
rs201269329
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)
|
rs749781761
|
0.00006
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
rs567872241
|
0.00006
|
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr)
|
rs149746031
|
0.00006
|
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)
|
rs200592030
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021956.5(GRIK2):c.1285T>A (p.Ser429Thr)
|
rs767297777
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)
|
rs376787713
|
0.00006
|
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)
|
rs200123403
|
0.00006
|
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys)
|
rs770897158
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)
|
rs750093817
|
0.00006
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
rs761150081
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
|
rs745511282
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser)
|
rs12674022
|
0.00006
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
0.00006
|
NM_181712.5(KANK4):c.2095del (p.Cys699fs)
|
rs775562315
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln)
|
rs752900825
|
0.00006
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
NM_199242.3(UNC13D):c.1014C>T (p.His338=)
|
rs375097777
|
0.00006
|
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)
|
rs370079447
|
0.00006
|
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)
|
rs782531580
|
0.00006
|
NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn)
|
rs782028739
|
0.00006
|
NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)
|
rs782174299
|
0.00006
|
NM_201384.3(PLEC):c.2643G>A (p.Thr881=)
|
rs369973592
|
0.00006
|
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)
|
rs774270631
|
0.00006
|
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val)
|
rs558775133
|
0.00006
|
NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys)
|
rs782532815
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)
|
rs368469075
|
0.00005
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00005
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
|
rs121912980
|
0.00005
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00005
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
0.00005
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00005
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00005
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00005
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00005
|
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00005
|
NM_000078.3(CETP):c.544C>T (p.Gln182Ter)
|
rs142750310
|
0.00005
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00005
|
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu)
|
rs56175199
|
0.00005
|
NM_000128.4(F11):c.438C>A (p.Cys146Ter)
|
rs121965066
|
0.00005
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00005
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00005
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00005
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00005
|
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
|
rs770694096
|
0.00005
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000392.5(ABCC2):c.576+1G>A
|
rs376398719
|
0.00005
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
0.00005
|
NM_000426.4(LAMA2):c.5562+1G>A
|
rs376014152
|
0.00005
|
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His)
|
rs548483084
|
0.00005
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00005
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00005
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)
|
rs202225176
|
0.00005
|
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp)
|
rs750275456
|
0.00005
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00005
|
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=)
|
rs762682222
|
0.00005
|
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=)
|
rs758413758
|
0.00005
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00005
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00005
|
NM_001079872.2(CUL4B):c.920+9G>A
|
rs375607970
|
0.00005
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00005
|
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)
|
rs369878342
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp)
|
rs970663890
|
0.00005
|
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
|
rs370050799
|
0.00005
|
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr)
|
rs886038449
|
0.00005
|
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met)
|
rs370108917
|
0.00005
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00005
|
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=)
|
rs747458739
|
0.00005
|
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)
|
rs374767754
|
0.00005
|
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)
|
rs143088184
|
0.00005
|
NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp)
|
rs754873937
|
0.00005
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00005
|
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)
|
rs771741670
|
0.00005
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00005
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00005
|
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)
|
rs377056111
|
0.00005
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00005
|
NM_001267550.2(TTN):c.133G>C (p.Val45Leu)
|
rs142028110
|
0.00005
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00005
|
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)
|
rs376799249
|
0.00005
|
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)
|
rs727505256
|
0.00005
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00005
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00005
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00005
|
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu)
|
rs369508943
|
0.00005
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00005
|
NM_001267550.2(TTN):c.24619G>A (p.Asp8207Asn)
|
rs756813056
|
0.00005
|
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)
|
rs777730788
|
0.00005
|
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu)
|
rs374075627
|
0.00005
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00005
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00005
|
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)
|
rs777119867
|
0.00005
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys)
|
rs199684560
|
0.00005
|
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)
|
rs759373140
|
0.00005
|
NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala)
|
rs571522834
|
0.00005
|
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln)
|
rs752671402
|
0.00005
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00005
|
NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg)
|
rs148549746
|
0.00005
|
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)
|
rs370782852
|
0.00005
|
NM_001267550.2(TTN):c.5296G>A (p.Val1766Ile)
|
rs149494502
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00005
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00005
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His)
|
rs373169150
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)
|
rs201223583
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)
|
rs72646892
|
0.00005
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00005
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val)
|
rs149232991
|
0.00005
|
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg)
|
rs201839118
|
0.00005
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00005
|
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)
|
rs375693686
|
0.00005
|
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)
|
rs377667066
|
0.00005
|
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)
|
rs774978209
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser)
|
rs750213547
|
0.00005
|
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)
|
rs369899675
|
0.00005
|
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)
|
rs555405542
|
0.00005
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00005
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)
|
rs781572378
|
0.00005
|
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)
|
rs750969198
|
0.00005
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)
|
rs201379132
|
0.00005
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
NM_001347721.2(DYRK1A):c.300+3A>G
|
rs1241074832
|
0.00005
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00005
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
rs782250606
|
0.00005
|
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)
|
rs200458194
|
0.00005
|
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr)
|
rs772028343
|
0.00005
|
NM_001375524.1(TRRAP):c.5334+3G>A
|
rs202055793
|
0.00005
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
0.00005
|
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
0.00005
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)
|
rs775754967
|
0.00005
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)
|
rs141418421
|
0.00005
|
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)
|
rs375787099
|
0.00005
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00005
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00005
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
0.00005
|
NM_002016.2(FLG):c.7487del (p.Thr2496fs)
|
rs774362740
|
0.00005
|
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln)
|
rs374700658
|
0.00005
|
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722
|
0.00005
|
NM_002206.3(ITGA7):c.2357+1G>A
|
rs200402328
|
0.00005
|
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)
|
rs754655315
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
|
rs551940721
|
0.00005
|
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met)
|
rs377119410
|
0.00005
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00005
|
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val)
|
rs377362395
|
0.00005
|
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
|
rs764529922
|
0.00005
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)
|
rs372271746
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)
|
rs727503815
|
0.00005
|
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)
|
rs145064612
|
0.00005
|
NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr)
|
rs563376014
|
0.00005
|
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln)
|
rs750195772
|
0.00005
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
|
rs200751269
|
0.00005
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00005
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
rs200550567
|
0.00005
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00005
|
NM_005529.7(HSPG2):c.12666-4G>A
|
rs575126803
|
0.00005
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
rs143206293
|
0.00005
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00005
|
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
|
rs115777201
|
0.00005
|
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)
|
rs761759814
|
0.00005
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00005
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00005
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
|
rs539376933
|
0.00005
|
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn)
|
rs374963939
|
0.00005
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00005
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00005
|
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)
|
rs201474295
|
0.00005
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu)
|
rs757227515
|
0.00005
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00005
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
rs535246705
|
0.00005
|
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
|
rs779668516
|
0.00005
|
NM_020549.5(CHAT):c.1814G>A (p.Arg605His)
|
rs199926163
|
0.00005
|
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
|
rs377502779
|
0.00005
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00005
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00005
|
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr)
|
rs145189350
|
0.00005
|
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)
|
rs544395324
|
0.00005
|
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg)
|
rs771737095
|
0.00005
|
NM_032237.5(POMK):c.256C>T (p.Arg86Cys)
|
rs370978230
|
0.00005
|
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)
|
rs567130416
|
0.00005
|
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys)
|
rs776161817
|
0.00005
|
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
|
rs370757859
|
0.00005
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_172362.3(KCNH1):c.2359G>A (p.Val787Met)
|
rs377557048
|
0.00005
|
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)
|
rs767076281
|
0.00005
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
rs368828206
|
0.00005
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00005
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00005
|
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)
|
rs542488020
|
0.00005
|
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)
|
rs376555091
|
0.00005
|
NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp)
|
rs781882121
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)
|
rs146341538
|
0.00005
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00004
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00004
|
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)
|
rs767580738
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter)
|
rs530517316
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu)
|
rs11229062
|
0.00004
|
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)
|
rs532351874
|
0.00004
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
|
rs568132506
|
0.00004
|
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val)
|
rs548033657
|
0.00004
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00004
|
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)
|
rs115063639
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000203.5(IDUA):c.1403-1G>T
|
rs4690223
|
0.00004
|
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
|
rs770377023
|
0.00004
|
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)
|
rs753256800
|
0.00004
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107
|
0.00004
|
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)
|
rs201956601
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys)
|
rs138871700
|
0.00004
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)
|
rs376757912
|
0.00004
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
rs28941776
|
0.00004
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
rs28942084
|
0.00004
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn)
|
rs753726014
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=)
|
rs896569937
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)
|
rs121964894
|
0.00004
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
|
rs202144045
|
0.00004
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)
|
rs118204008
|
0.00004
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00004
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00004
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00004
|
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)
|
rs137853211
|
0.00004
|
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met)
|
rs758995387
|
0.00004
|
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu)
|
rs201842856
|
0.00004
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu)
|
rs764292783
|
0.00004
|
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr)
|
rs757351084
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter)
|
rs1161335800
|
0.00004
|
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His)
|
rs992473797
|
0.00004
|
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln)
|
rs377011269
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr)
|
rs990382620
|
0.00004
|
NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=)
|
rs763685989
|
0.00004
|
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)
|
rs72653705
|
0.00004
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)
|
rs121918236
|
0.00004
|
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)
|
rs757704473
|
0.00004
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr)
|
rs764462476
|
0.00004
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)
|
rs774524898
|
0.00004
|
NM_001267550.2(TTN):c.106858G>A (p.Glu35620Lys)
|
rs377593605
|
0.00004
|
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys)
|
rs749584249
|
0.00004
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)
|
rs752924679
|
0.00004
|
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)
|
rs774503024
|
0.00004
|
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)
|
rs794727755
|
0.00004
|
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg)
|
rs774937703
|
0.00004
|
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)
|
rs776790387
|
0.00004
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
NM_001267550.2(TTN):c.19180G>C (p.Val6394Leu)
|
rs370515485
|
0.00004
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp)
|
rs727504736
|
0.00004
|
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)
|
rs200954184
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg)
|
rs374739582
|
0.00004
|
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln)
|
rs372804810
|
0.00004
|
NM_001267550.2(TTN):c.2358C>G (p.His786Gln)
|
rs199507913
|
0.00004
|
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)
|
rs397517506
|
0.00004
|
NM_001267550.2(TTN):c.26148A>G (p.Lys8716=)
|
rs778772942
|
0.00004
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00004
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu)
|
rs373848402
|
0.00004
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys)
|
rs187792775
|
0.00004
|
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)
|
rs755562550
|
0.00004
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00004
|
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)
|
rs190461403
|
0.00004
|
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val)
|
rs371426048
|
0.00004
|
NM_001267550.2(TTN):c.42383G>C (p.Gly14128Ala)
|
rs370793851
|
0.00004
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)
|
rs72677226
|
0.00004
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)
|
rs761815745
|
0.00004
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val)
|
rs188395969
|
0.00004
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)
|
rs200544272
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)
|
rs556286196
|
0.00004
|
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)
|
rs186809500
|
0.00004
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr)
|
rs374845737
|
0.00004
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)
|
rs528707403
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)
|
rs373765469
|
0.00004
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
NM_001267550.2(TTN):c.76527C>T (p.Asp25509=)
|
rs780539951
|
0.00004
|
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)
|
rs184428451
|
0.00004
|
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)
|
rs530507211
|
0.00004
|
NM_001267550.2(TTN):c.80083G>T (p.Val26695Leu)
|
rs772729384
|
0.00004
|
NM_001267550.2(TTN):c.83925G>A (p.Lys27975=)
|
rs1031543708
|
0.00004
|
NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys)
|
rs760762822
|
0.00004
|
NM_001267550.2(TTN):c.88591C>T (p.Leu29531Phe)
|
rs371483198
|
0.00004
|
NM_001267550.2(TTN):c.9154T>C (p.Tyr3052His)
|
rs763833161
|
0.00004
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)
|
rs569593251
|
0.00004
|
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)
|
rs377049518
|
0.00004
|
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)
|
rs562178341
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe)
|
rs561932256
|
0.00004
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser)
|
rs17854478
|
0.00004
|
NM_001330360.2(POLA1):c.2756G>T (p.Arg919Ile)
|
rs770629363
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
|
rs367841692
|
0.00004
|
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)
|
rs202152511
|
0.00004
|
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)
|
rs369792621
|
0.00004
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser)
|
rs782510081
|
0.00004
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
NM_001457.4(FLNB):c.2935G>A (p.Val979Met)
|
rs376511120
|
0.00004
|
NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu)
|
rs199760437
|
0.00004
|
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
0.00004
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
0.00004
|
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
0.00004
|
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)
|
rs201045495
|
0.00004
|
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)
|
rs752346924
|
0.00004
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
NM_001845.6(COL4A1):c.4640+3G>T
|
rs770167198
|
0.00004
|
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met)
|
rs770162224
|
0.00004
|
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His)
|
rs148464130
|
0.00004
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_003126.4(SPTA1):c.2588-3T>C
|
rs375142282
|
0.00004
|
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly)
|
rs374054249
|
0.00004
|
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
|
rs749975104
|
0.00004
|
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)
|
rs372085797
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)
|
rs199787155
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00004
|
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)
|
rs747802164
|
0.00004
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_004006.3(DMD):c.3921+12A>G
|
rs760373690
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)
|
rs557128093
|
0.00004
|
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)
|
rs752341132
|
0.00004
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)
|
rs771078518
|
0.00004
|
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)
|
rs778415707
|
0.00004
|
NM_004425.4(ECM1):c.1019del (p.Gln340fs)
|
rs778473713
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004946.3(DOCK2):c.44-9G>A
|
rs778542070
|
0.00004
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00004
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=)
|
rs200462415
|
0.00004
|
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr)
|
rs201508804
|
0.00004
|
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)
|
rs984874083
|
0.00004
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00004
|
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys)
|
rs375934353
|
0.00004
|
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)
|
rs587777688
|
0.00004
|
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)
|
rs182820353
|
0.00004
|
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val)
|
rs759136937
|
0.00004
|
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg)
|
rs200042995
|
0.00004
|
NM_006214.4(PHYH):c.497-2A>G
|
rs144169488
|
0.00004
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr)
|
rs771224281
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu)
|
rs776260027
|
0.00004
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
NM_014159.7(SETD2):c.2849G>A (p.Arg950His)
|
rs149265978
|
0.00004
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)
|
rs371449613
|
0.00004
|
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)
|
rs794726855
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)
|
rs28942109
|
0.00004
|
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)
|
rs3748694
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu)
|
rs369543203
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
|
rs763184652
|
0.00004
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)
|
rs119471023
|
0.00004
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00004
|
NM_024009.3(GJB3):c.499G>A (p.Val167Met)
|
rs376748531
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)
|
rs374596700
|
0.00004
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)
|
rs780540757
|
0.00004
|
NM_032634.3(PIGO):c.3069+5G>A
|
rs368953604
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00004
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00004
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)
|
rs772121051
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
0.00004
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile)
|
rs560877883
|
0.00004
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00004
|
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)
|
rs201327410
|
0.00004
|
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu)
|
rs773696166
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val)
|
rs368803763
|
0.00004
|
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)
|
rs541209817
|
0.00004
|
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)
|
rs782757364
|
0.00004
|
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val)
|
rs782360547
|
0.00004
|
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser)
|
rs782450868
|
0.00004
|
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)
|
rs782713908
|
0.00004
|
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys)
|
rs782305250
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=)
|
rs748007443
|
0.00004
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NC_000011.10:g.5227172G>A
|
rs63751208
|
0.00003
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00003
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)
|
rs119450944
|
0.00003
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00003
|
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)
|
rs886042895
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000079.4(CHRNA1):c.235-323G>A
|
rs750955953
|
0.00003
|
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
|
rs200512692
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
|
rs769191749
|
0.00003
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00003
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00003
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
rs782697859
|
0.00003
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00003
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00003
|
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)
|
rs781062564
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000298.6(PKLR):c.257G>A (p.Arg86His)
|
rs375471342
|
0.00003
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp)
|
rs368256039
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00003
|
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)
|
rs749020872
|
0.00003
|
NM_000342.4(SLC4A1):c.877-3dup
|
rs747181893
|
0.00003
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00003
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00003
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)
|
rs753641926
|
0.00003
|
NM_000400.4(ERCC2):c.718+8G>A
|
rs543196752
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
|
rs121918442
|
0.00003
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000485.3(APRT):c.250G>A (p.Val84Met)
|
rs200392753
|
0.00003
|
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)
|
rs74315470
|
0.00003
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
rs144614838
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
rs137929307
|
0.00003
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
rs746118995
|
0.00003
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
rs121908026
|
0.00003
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
rs373822756
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly)
|
rs193922822
|
0.00003
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
rs951057994
|
0.00003
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)
|
rs121918670
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp)
|
rs777271963
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00003
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
0.00003
|
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
|
rs536050342
|
0.00003
|
NM_001010867.4(IBA57):c.316del (p.Thr106fs)
|
rs757794637
|
0.00003
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00003
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
0.00003
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)
|
rs375101073
|
0.00003
|
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn)
|
rs200537032
|
0.00003
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00003
|
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys)
|
rs767067922
|
0.00003
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00003
|
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg)
|
rs142113044
|
0.00003
|
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys)
|
rs367543132
|
0.00003
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met)
|
rs775326454
|
0.00003
|
NM_001142864.4(PIEZO1):c.308G>A (p.Arg103Gln)
|
rs951851993
|
0.00003
|
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
|
rs1180628646
|
0.00003
|
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
|
rs866069095
|
0.00003
|
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln)
|
rs367989965
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00003
|
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala)
|
rs377097035
|
0.00003
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe)
|
rs537233133
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)
|
rs550306731
|
0.00003
|
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)
|
rs200102503
|
0.00003
|
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)
|
rs985064686
|
0.00003
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00003
|
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr)
|
rs778965506
|
0.00003
|
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)
|
rs773561397
|
0.00003
|
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)
|
rs1036339690
|
0.00003
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00003
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
NM_001267550.2(TTN):c.104179A>G (p.Arg34727Gly)
|
rs555555534
|
0.00003
|
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)
|
rs755726554
|
0.00003
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)
|
rs762136167
|
0.00003
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)
|
rs560557634
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00003
|
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)
|
rs371639583
|
0.00003
|
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg)
|
rs377754692
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu)
|
rs754848806
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
NM_001267550.2(TTN):c.21189G>A (p.Leu7063=)
|
rs758622900
|
0.00003
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln)
|
rs761383124
|
0.00003
|
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)
|
rs560272834
|
0.00003
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00003
|
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)
|
rs778611558
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg)
|
rs561059250
|
0.00003
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)
|
rs375209383
|
0.00003
|
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu)
|
rs372608982
|
0.00003
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
NM_001267550.2(TTN):c.31841C>A (p.Ala10614Asp)
|
rs376754004
|
0.00003
|
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)
|
rs752903377
|
0.00003
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr)
|
rs398124447
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.422G>A (p.Gly141Glu)
|
rs750730828
|
0.00003
|
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)
|
rs367744803
|
0.00003
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)
|
rs781392140
|
0.00003
|
NM_001267550.2(TTN):c.45739A>C (p.Ile15247Leu)
|
rs373857517
|
0.00003
|
NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln)
|
rs773073914
|
0.00003
|
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg)
|
rs750435043
|
0.00003
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)
|
rs752204728
|
0.00003
|
NM_001267550.2(TTN):c.5147G>A (p.Arg1716His)
|
rs771659260
|
0.00003
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)
|
rs565423253
|
0.00003
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00003
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys)
|
rs199656264
|
0.00003
|
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)
|
rs201091423
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)
|
rs780536141
|
0.00003
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00003
|
NM_001267550.2(TTN):c.60782C>T (p.Thr20261Ile)
|
rs555901678
|
0.00003
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)
|
rs568886353
|
0.00003
|
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)
|
rs752176305
|
0.00003
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)
|
rs540840413
|
0.00003
|
NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln)
|
rs762529671
|
0.00003
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln)
|
rs745488276
|
0.00003
|
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)
|
rs397517701
|
0.00003
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00003
|
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)
|
rs369019463
|
0.00003
|
NM_001267550.2(TTN):c.79315C>T (p.Arg26439Cys)
|
rs372968732
|
0.00003
|
NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu)
|
rs532706350
|
0.00003
|
NM_001267550.2(TTN):c.81844A>G (p.Lys27282Glu)
|
rs761201021
|
0.00003
|
NM_001267550.2(TTN):c.8269G>A (p.Val2757Ile)
|
rs769822096
|
0.00003
|
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)
|
rs752974639
|
0.00003
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)
|
rs754356257
|
0.00003
|
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)
|
rs56330345
|
0.00003
|
NM_001267550.2(TTN):c.87263C>T (p.Thr29088Ile)
|
rs565333965
|
0.00003
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00003
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00003
|
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)
|
rs374474227
|
0.00003
|
NM_001267550.2(TTN):c.9226A>G (p.Met3076Val)
|
rs766144077
|
0.00003
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
NM_001267550.2(TTN):c.93305A>G (p.Tyr31102Cys)
|
rs374084427
|
0.00003
|
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile)
|
rs780436747
|
0.00003
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00003
|
NM_001267550.2(TTN):c.95743G>T (p.Ala31915Ser)
|
rs1490243211
|
0.00003
|
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)
|
rs745962752
|
0.00003
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)
|
rs746586029
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)
|
rs552069173
|
0.00003
|
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)
|
rs771231471
|
0.00003
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
rs1286076100
|
0.00003
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00003
|
NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln)
|
rs148127231
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys)
|
rs774556391
|
0.00003
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001375524.1(TRRAP):c.8458A>G (p.Ile2820Val)
|
rs140534199
|
0.00003
|
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile)
|
rs561339487
|
0.00003
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter)
|
rs978512526
|
0.00003
|
NM_001378183.1(PIEZO2):c.2032C>T (p.Leu678=)
|
rs999773875
|
0.00003
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_001386125.1(OBSCN):c.962A>G (p.Tyr321Cys)
|
rs771719843
|
0.00003
|
NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu)
|
rs587778197
|
0.00003
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)
|
rs370716086
|
0.00003
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00003
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00003
|
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys)
|
rs779029827
|
0.00003
|
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
0.00003
|
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile)
|
rs768941858
|
0.00003
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter)
|
rs779271284
|
0.00003
|
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu)
|
rs778135776
|
0.00003
|
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu)
|
rs761774962
|
0.00003
|
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)
|
rs771987341
|
0.00003
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
NM_002016.2(FLG):c.138+1G>C
|
rs756254959
|
0.00003
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00003
|
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)
|
rs113993971
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00003
|
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)
|
rs377029071
|
0.00003
|
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)
|
rs745509632
|
0.00003
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00003
|
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His)
|
rs759075251
|
0.00003
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00003
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00003
|
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile)
|
rs756017412
|
0.00003
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_003919.3(SGCE):c.410G>A (p.Arg137His)
|
rs548306335
|
0.00003
|
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu)
|
rs768233445
|
0.00003
|
NM_004006.3(DMD):c.2912A>T (p.Asp971Val)
|
rs762154042
|
0.00003
|
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)
|
rs750981128
|
0.00003
|
NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)
|
rs376234802
|
0.00003
|
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)
|
rs755477994
|
0.00003
|
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)
|
rs774825173
|
0.00003
|
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)
|
rs781748062
|
0.00003
|
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)
|
rs779233737
|
0.00003
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys)
|
rs770645288
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp)
|
rs768482972
|
0.00003
|
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs)
|
rs1553241079
|
0.00003
|
NM_005529.7(HSPG2):c.9033_9034del (p.Pro3011_Ser3012insTer)
|
rs1318029350
|
0.00003
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)
|
rs368932156
|
0.00003
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
NM_006180.6(NTRK2):c.560C>A (p.Ala187Glu)
|
rs563972840
|
0.00003
|
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)
|
rs138111804
|
0.00003
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)
|
rs775007929
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)
|
rs1057523761
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_014611.3(MDN1):c.9185A>G (p.Asn3062Ser)
|
rs146744786
|
0.00003
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
NM_014967.5(FAN1):c.2264del (p.Glu755fs)
|
rs756840415
|
0.00003
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00003
|
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)
|
rs118204049
|
0.00003
|
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter)
|
rs868028669
|
0.00003
|
NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln)
|
rs778196366
|
0.00003
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)
|
rs267607025
|
0.00003
|
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln)
|
rs769195904
|
0.00003
|
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)
|
rs370455806
|
0.00003
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)
|
rs370283860
|
0.00003
|
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)
|
rs750232956
|
0.00003
|
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=)
|
rs373787791
|
0.00003
|
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
|
rs769140907
|
0.00003
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00003
|
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
|
rs868354713
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)
|
rs121908321
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)
|
rs368074297
|
0.00003
|
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)
|
rs137853116
|
0.00003
|
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)
|
rs562098384
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)
|
rs202013297
|
0.00003
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
0.00003
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
rs767943814
|
0.00003
|
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)
|
rs533704173
|
0.00003
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter)
|
rs757546009
|
0.00003
|
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)
|
rs752666494
|
0.00003
|
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
|
rs549182297
|
0.00003
|
NM_053025.4(MYLK):c.4838-3C>T
|
rs776825316
|
0.00003
|
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)
|
rs201059449
|
0.00003
|
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu)
|
rs373983482
|
0.00003
|
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)
|
rs562253142
|
0.00003
|
NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)
|
rs781402333
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_139242.4(MTFMT):c.1A>C (p.Met1Leu)
|
rs769064443
|
0.00003
|
NM_139248.3(LIPH):c.742C>A (p.His248Asn)
|
rs201868115
|
0.00003
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)
|
rs758955886
|
0.00003
|
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)
|
rs759216914
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
|
rs141163928
|
0.00003
|
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter)
|
rs369707059
|
0.00003
|
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu)
|
rs747348017
|
0.00003
|
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)
|
rs554186246
|
0.00003
|
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)
|
rs138789938
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg)
|
rs557350925
|
0.00003
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)
|
rs1020832262
|
0.00003
|
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)
|
rs121908901
|
0.00003
|
NM_198525.3(KIF7):c.1164C>T (p.Gly388=)
|
rs975756878
|
0.00003
|
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)
|
rs794727316
|
0.00003
|
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)
|
rs782299720
|
0.00003
|
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)
|
rs576252504
|
0.00003
|
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)
|
rs782618396
|
0.00003
|
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)
|
rs199995144
|
0.00003
|
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)
|
rs606231276
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00003
|
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)
|
rs550855238
|
0.00003
|
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)
|
rs749698519
|
0.00003
|
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)
|
rs772929002
|
0.00003
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)
|
rs760485585
|
0.00002
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00002
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)
|
rs748021245
|
0.00002
|
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)
|
rs373525085
|
0.00002
|
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)
|
rs754213830
|
0.00002
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000078.3(CETP):c.1321+1G>A
|
rs5742907
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg)
|
rs757109632
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg)
|
rs775549101
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00002
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
rs201345740
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000222.3(KIT):c.829A>G (p.Ile277Val)
|
rs757547974
|
0.00002
|
NM_000228.3(LAMB3):c.781C>G (p.Pro261Ala)
|
rs537985381
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu)
|
rs201367621
|
0.00002
|
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)
|
rs201916531
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000336.3(SCNN1B):c.1542+1G>A
|
rs550424284
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)
|
rs375275230
|
0.00002
|
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)
|
rs372576669
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter)
|
rs755551812
|
0.00002
|
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)
|
rs755635209
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00002
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
rs397509365
|
0.00002
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
rs730882096
|
0.00002
|
NM_000527.5(LDLR):c.1187-10G>A
|
rs765696008
|
0.00002
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
rs373371572
|
0.00002
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
rs121908039
|
0.00002
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
0.00002
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00002
|
NM_000540.3(RYR1):c.1925+7C>T
|
rs559157737
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00002
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)
|
rs556958354
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter)
|
rs766823872
|
0.00002
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)
|
rs545489204
|
0.00002
|
NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter)
|
rs746159728
|
0.00002
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00002
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)
|
rs777956037
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)
|
rs150993414
|
0.00002
|
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
|
rs927607049
|
0.00002
|
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)
|
rs775931992
|
0.00002
|
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser)
|
rs201947293
|
0.00002
|
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)
|
rs368482631
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
0.00002
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
0.00002
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00002
|
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met)
|
rs759869189
|
0.00002
|
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe)
|
rs575482829
|
0.00002
|
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser)
|
rs1013412353
|
0.00002
|
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro)
|
rs1057523555
|
0.00002
|
NM_001164508.2(NEB):c.24645G>A (p.Val8215=)
|
rs769610035
|
0.00002
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
|
rs371560611
|
0.00002
|
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly)
|
rs555896752
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)
|
rs780835388
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.102965G>A (p.Ser34322Asn)
|
rs763242057
|
0.00002
|
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala)
|
rs201240519
|
0.00002
|
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)
|
rs79666048
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)
|
rs565675340
|
0.00002
|
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)
|
rs727504949
|
0.00002
|
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)
|
rs760107623
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)
|
rs752150323
|
0.00002
|
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr)
|
rs375417155
|
0.00002
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln)
|
rs201951252
|
0.00002
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00002
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)
|
rs72648995
|
0.00002
|
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)
|
rs753121692
|
0.00002
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)
|
rs762662455
|
0.00002
|
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr)
|
rs752662529
|
0.00002
|
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)
|
rs761974767
|
0.00002
|
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe)
|
rs759268958
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)
|
rs369178648
|
0.00002
|
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)
|
rs754182768
|
0.00002
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val)
|
rs371601918
|
0.00002
|
NM_001267550.2(TTN):c.49032G>A (p.Val16344=)
|
rs587780980
|
0.00002
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro)
|
rs764983586
|
0.00002
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)
|
rs574313741
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)
|
rs201457934
|
0.00002
|
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)
|
rs770684884
|
0.00002
|
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)
|
rs376338324
|
0.00002
|
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)
|
rs748901968
|
0.00002
|
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)
|
rs578085621
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr)
|
rs765930349
|
0.00002
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00002
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr)
|
rs769320596
|
0.00002
|
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu)
|
rs766741890
|
0.00002
|
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile)
|
rs371306826
|
0.00002
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00002
|
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile)
|
rs759432194
|
0.00002
|
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His)
|
rs376051922
|
0.00002
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001267550.2(TTN):c.85072A>T (p.Met28358Leu)
|
rs368069666
|
0.00002
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00002
|
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)
|
rs727503551
|
0.00002
|
NM_001267550.2(TTN):c.90238G>A (p.Ala30080Thr)
|
rs753375022
|
0.00002
|
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro)
|
rs368516973
|
0.00002
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00002
|
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala)
|
rs756610221
|
0.00002
|
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)
|
rs760230943
|
0.00002
|
NM_001267550.2(TTN):c.94064C>T (p.Ala31355Val)
|
rs370666551
|
0.00002
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)
|
rs760676361
|
0.00002
|
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser)
|
rs374521620
|
0.00002
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
NM_001303.4(COX10):c.674C>T (p.Pro225Leu)
|
rs104894556
|
0.00002
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969
|
0.00002
|
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met)
|
rs750659716
|
0.00002
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
rs782754619
|
0.00002
|
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
|
rs1332668133
|
0.00002
|
NM_001365536.1(SCN9A):c.902-2A>C
|
rs773824421
|
0.00002
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)
|
rs761093701
|
0.00002
|
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr)
|
rs1028234458
|
0.00002
|
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)
|
rs137853032
|
0.00002
|
NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr)
|
rs780202686
|
0.00002
|
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
|
rs745872044
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_001386125.1(OBSCN):c.3040A>T (p.Thr1014Ser)
|
rs779774732
|
0.00002
|
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile)
|
rs201533113
|
0.00002
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
NM_001673.5(ASNS):c.1019G>A (p.Arg340His)
|
rs1360484422
|
0.00002
|
NM_001734.5(C1S):c.394A>G (p.Ile132Val)
|
rs1198867920
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)
|
rs201217202
|
0.00002
|
NM_002470.4(MYH3):c.375T>C (p.Thr125=)
|
rs762734569
|
0.00002
|
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp)
|
rs387906656
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)
|
rs142347031
|
0.00002
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
rs761105413
|
0.00002
|
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
|
rs770137350
|
0.00002
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)
|
rs1383734078
|
0.00002
|
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)
|
rs764696852
|
0.00002
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)
|
rs140575687
|
0.00002
|
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)
|
rs765207227
|
0.00002
|
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu)
|
rs777354267
|
0.00002
|
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)
|
rs765333778
|
0.00002
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
NM_004281.4(BAG3):c.983T>C (p.Val328Ala)
|
rs765627299
|
0.00002
|
NM_004284.6(CHD1L):c.1929del (p.Arg643fs)
|
rs782144677
|
0.00002
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004614.5(TK2):c.548G>A (p.Arg183Gln)
|
rs780333412
|
0.00002
|
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His)
|
rs544069848
|
0.00002
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00002
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
rs782325371
|
0.00002
|
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
|
rs369452147
|
0.00002
|
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
|
rs768707273
|
0.00002
|
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=)
|
rs769398456
|
0.00002
|
NM_005591.4(MRE11):c.1867+2T>C
|
rs745677716
|
0.00002
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
rs375724338
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
|
rs782620409
|
0.00002
|
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
|
rs747534810
|
0.00002
|
NM_005677.4(COLQ):c.555+1G>A
|
rs769276577
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_006302.3(MOGS):c.646del (p.Val216fs)
|
rs777654978
|
0.00002
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)
|
rs765193793
|
0.00002
|
NM_006922.4(SCN3A):c.991C>A (p.Gln331Lys)
|
rs771446983
|
0.00002
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00002
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys)
|
rs773401224
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)
|
rs566110160
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)
|
rs563710728
|
0.00002
|
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)
|
rs777282696
|
0.00002
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00002
|
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)
|
rs745656120
|
0.00002
|
NM_014712.3(SETD1A):c.655C>T (p.Arg219Cys)
|
rs373130363
|
0.00002
|
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)
|
rs1045333933
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015459.5(ATL3):c.1500C>T (p.Gly500=)
|
rs202227458
|
0.00002
|
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly)
|
rs530739140
|
0.00002
|
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)
|
rs515726180
|
0.00002
|
NM_016011.5(MECR):c.695G>A (p.Gly232Glu)
|
rs762913101
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr)
|
rs538198742
|
0.00002
|
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)
|
rs376357016
|
0.00002
|
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)
|
rs778649204
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
|
rs747347699
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
rs748335175
|
0.00002
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
NM_021120.4(DLG3):c.1280G>A (p.Arg427His)
|
rs775293712
|
0.00002
|
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)
|
rs371188899
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)
|
rs757332023
|
0.00002
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser)
|
rs763767150
|
0.00002
|
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val)
|
rs1003872402
|
0.00002
|
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser)
|
rs1004363452
|
0.00002
|
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)
|
rs952398755
|
0.00002
|
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)
|
rs374910216
|
0.00002
|
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=)
|
rs761416400
|
0.00002
|
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser)
|
rs1014292464
|
0.00002
|
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)
|
rs757218098
|
0.00002
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
0.00002
|
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
|
rs121908316
|
0.00002
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)
|
rs606231407
|
0.00002
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
rs910401729
|
0.00002
|
NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter)
|
rs140695299
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln)
|
rs908889815
|
0.00002
|
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)
|
rs139959852
|
0.00002
|
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln)
|
rs764036360
|
0.00002
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00002
|
NM_182961.4(SYNE1):c.25119+3A>G
|
rs1057521423
|
0.00002
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro)
|
rs192346335
|
0.00002
|
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
|
rs775375977
|
0.00002
|
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)
|
rs782674838
|
0.00002
|
NM_201384.3(PLEC):c.1872C>T (p.Ala624=)
|
rs782547448
|
0.00002
|
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)
|
rs377125427
|
0.00002
|
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)
|
rs782485083
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
rs866464446
|
0.00001
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
0.00001
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
0.00001
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)
|
rs763542069
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
0.00001
|
NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu)
|
rs863223904
|
0.00001
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
rs1557052417
|
0.00001
|
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)
|
rs774952444
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
|
rs1211112295
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)
|
rs1057521115
|
0.00001
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
0.00001
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00001
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
0.00001
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
0.00001
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
0.00001
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser)
|
rs749484478
|
0.00001
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
|
rs1473668614
|
0.00001
|
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)
|
rs200366112
|
0.00001
|
NM_000069.3(CACNA1S):c.4798-2A>G
|
rs1428157373
|
0.00001
|
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)
|
rs757755172
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00001
|
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)
|
rs760626912
|
0.00001
|
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)
|
rs779701414
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
0.00001
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
NM_000080.4(CHRNE):c.632C>T (p.Pro211Leu)
|
rs773916039
|
0.00001
|
NM_000081.4(LYST):c.8358+2T>C
|
rs1157079200
|
0.00001
|
NM_000082.4(ERCC8):c.173+1G>A
|
rs1476095782
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)
|
rs776919202
|
0.00001
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala)
|
rs371803356
|
0.00001
|
NM_000092.5(COL4A4):c.4091-12T>C
|
rs759175039
|
0.00001
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
0.00001
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
0.00001
|
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)
|
rs1374482155
|
0.00001
|
NM_000098.3(CPT2):c.341-2A>G
|
rs752468216
|
0.00001
|
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter)
|
rs778202993
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
NM_000110.4(DPYD):c.321+1G>A
|
rs746368304
|
0.00001
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00001
|
NM_000128.4(F11):c.1186C>T (p.Arg396Cys)
|
rs771896253
|
0.00001
|
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)
|
rs538083600
|
0.00001
|
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)
|
rs779802284
|
0.00001
|
NM_000128.4(F11):c.1253G>T (p.Gly418Val)
|
rs121965071
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.166T>C (p.Cys56Arg)
|
rs121965069
|
0.00001
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
0.00001
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.195+1G>A
|
rs1009872980
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)
|
rs121909272
|
0.00001
|
NM_000157.4(GBA1):c.1049A>G (p.His350Arg)
|
rs78198234
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)
|
rs80222298
|
0.00001
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)
|
rs74462743
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
|
rs376374984
|
0.00001
|
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)
|
rs768925619
|
0.00001
|
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)
|
rs1555751336
|
0.00001
|
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)
|
rs886043840
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00001
|
NM_000171.4(GLRA1):c.523A>G (p.Met175Val)
|
rs121918414
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg)
|
rs1459883720
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)
|
rs1053785648
|
0.00001
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00001
|
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)
|
rs777849213
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
0.00001
|
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)
|
rs193922362
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=)
|
rs1033335294
|
0.00001
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00001
|
NM_000232.5(SGCB):c.346A>G (p.Met116Val)
|
rs752168132
|
0.00001
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)
|
rs121912524
|
0.00001
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)
|
rs727503258
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.4520-3C>T
|
rs549509054
|
0.00001
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)
|
rs121918168
|
0.00001
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00001
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000298.6(PKLR):c.1270-5T>G
|
rs767981368
|
0.00001
|
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
|
rs768002493
|
0.00001
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
0.00001
|
NM_000298.6(PKLR):c.1493G>A (p.Arg498His)
|
rs758327704
|
0.00001
|
NM_000298.6(PKLR):c.1675C>T (p.Arg559Ter)
|
rs532230312
|
0.00001
|
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr)
|
rs1165604977
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
|
rs757359024
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)
|
rs121918150
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000318.3(PEX2):c.624dup (p.Pro209fs)
|
rs1438831421
|
0.00001
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
|
rs1318966106
|
0.00001
|
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)
|
rs746749167
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)
|
rs754973425
|
0.00001
|
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)
|
rs1398477044
|
0.00001
|
NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)
|
rs1359458155
|
0.00001
|
NM_000349.3(STAR):c.545G>A (p.Arg182His)
|
rs104894086
|
0.00001
|
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)
|
rs886046564
|
0.00001
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00001
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
0.00001
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)
|
rs201868387
|
0.00001
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)
|
rs1565538350
|
0.00001
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
rs146377316
|
0.00001
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
0.00001
|
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del)
|
rs1474804613
|
0.00001
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
NM_000419.5(ITGA2B):c.945+9C>A
|
rs776521459
|
0.00001
|
NM_000424.4(KRT5):c.86G>A (p.Arg29His)
|
rs543574061
|
0.00001
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
NM_000426.4(LAMA2):c.2749+24C>A
|
rs886038292
|
0.00001
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)
|
rs201175472
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)
|
rs1327401976
|
0.00001
|
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)
|
rs759563967
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00001
|
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)
|
rs779885518
|
0.00001
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
rs779829759
|
0.00001
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)
|
rs1313802305
|
0.00001
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
0.00001
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
0.00001
|
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.771+985G>A
|
rs1210377071
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
NM_000527.4(LDLR):c.313+1G>A
|
rs112029328
|
0.00001
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
rs768430352
|
0.00001
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
rs879254803
|
0.00001
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
rs121908043
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
rs570942190
|
0.00001
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
rs28942079
|
0.00001
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
rs769370816
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
rs121908031
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
rs730882078
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
rs748944640
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
0.00001
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
0.00001
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
0.00001
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
0.00001
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys)
|
rs746611627
|
0.00001
|
NM_000540.3(RYR1):c.10937+1G>C
|
rs775682151
|
0.00001
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
0.00001
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
0.00001
|
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)
|
rs193922768
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.2361-4C>G
|
rs753918895
|
0.00001
|
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)
|
rs143179371
|
0.00001
|
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp)
|
rs1229854214
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)
|
rs1568484835
|
0.00001
|
NM_000540.3(RYR1):c.5548-3T>C
|
rs370111319
|
0.00001
|
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=)
|
rs1969490927
|
0.00001
|
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=)
|
rs2145564113
|
0.00001
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
0.00001
|
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)
|
rs772003357
|
0.00001
|
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
|
rs1251260760
|
0.00001
|
NM_000540.3(RYR1):c.6797-1G>A
|
rs1221087983
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)
|
rs193922801
|
0.00001
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
NM_000540.3(RYR1):c.8430G>A (p.Lys2810=)
|
rs747388850
|
0.00001
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.975C>T (p.Ala325=)
|
rs751251863
|
0.00001
|
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)
|
rs755875230
|
0.00001
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)
|
rs758301934
|
0.00001
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00001
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)
|
rs373635516
|
0.00001
|
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu)
|
rs781139561
|
0.00001
|
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)
|
rs1555441265
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000550.3(TYRP1):c.721G>T (p.Glu241Ter)
|
rs1176553821
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
rs1402386421
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val)
|
rs763372245
|
0.00001
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)
|
rs138226428
|
0.00001
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)
|
rs267607046
|
0.00001
|
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)
|
rs529893298
|
0.00001
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)
|
rs776690106
|
0.00001
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00001
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_001039591.3(USP9X):c.90G>C (p.Gln30His)
|
rs754357906
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00001
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001079802.2(FKTN):c.706A>G (p.Met236Val)
|
rs886042241
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)
|
rs754414354
|
0.00001
|
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)
|
rs770749420
|
0.00001
|
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)
|
rs1280810181
|
0.00001
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter)
|
rs2066512609
|
0.00001
|
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
|
rs200320654
|
0.00001
|
NM_001101426.4(CRPPA):c.395A>G (p.Asn132Ser)
|
rs774324906
|
0.00001
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00001
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
0.00001
|
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala)
|
rs143989769
|
0.00001
|
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
|
rs1300877733
|
0.00001
|
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)
|
rs748575829
|
0.00001
|
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)
|
rs886039754
|
0.00001
|
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)
|
rs771701344
|
0.00001
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
0.00001
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)
|
rs1057523197
|
0.00001
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter)
|
rs878853036
|
0.00001
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
NM_001130682.3(GUCY1A1):c.1086+1G>T
|
rs587777320
|
0.00001
|
NM_001130987.2(DYSF):c.1149+5G>A
|
rs1023002894
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)
|
rs1553412643
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)
|
rs746663568
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu)
|
rs570907044
|
0.00001
|
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val)
|
rs200526162
|
0.00001
|
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys)
|
rs61758996
|
0.00001
|
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)
|
rs765104792
|
0.00001
|
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)
|
rs387906785
|
0.00001
|
NM_001142800.2(EYS):c.6192-1G>T
|
rs570020451
|
0.00001
|
NM_001142864.4(PIEZO1):c.2207T>C (p.Leu736Pro)
|
rs999049540
|
0.00001
|
NM_001142864.4(PIEZO1):c.4685G>A (p.Arg1562Lys)
|
rs984713605
|
0.00001
|
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg)
|
rs367636785
|
0.00001
|
NM_001145809.2(MYH14):c.590+1G>A
|
rs371338704
|
0.00001
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu)
|
rs200298261
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)
|
rs751680308
|
0.00001
|
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)
|
rs747179265
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
0.00001
|
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
|
rs1689333436
|
0.00001
|
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln)
|
rs769477807
|
0.00001
|
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)
|
rs751750112
|
0.00001
|
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
|
rs1170665581
|
0.00001
|
NM_001171.6(ABCC6):c.3506+1G>A
|
rs1359856569
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1734C>T
|
rs374594354
|
0.00001
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
|
rs121909388
|
0.00001
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00001
|
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu)
|
rs764417585
|
0.00001
|
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
|
rs1750312383
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001194998.2(CEP152):c.2895A>G (p.Gln965=)
|
rs1382711328
|
0.00001
|
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)
|
rs556552435
|
0.00001
|
NM_001212.4(C1QBP):c.576+2T>A
|
rs779379127
|
0.00001
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
NM_001243279.3(ACSF3):c.666+1G>A
|
rs1336382616
|
0.00001
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)
|
rs752582515
|
0.00001
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00001
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
NM_001267550.2(TTN):c.104250T>C (p.His34750=)
|
rs745463889
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)
|
rs794729566
|
0.00001
|
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)
|
rs779484675
|
0.00001
|
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)
|
rs368779151
|
0.00001
|
NM_001267550.2(TTN):c.105360C>T (p.Thr35120=)
|
rs904049980
|
0.00001
|
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His)
|
rs768358201
|
0.00001
|
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)
|
rs370476812
|
0.00001
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)
|
rs369703073
|
0.00001
|
NM_001267550.2(TTN):c.107393C>T (p.Pro35798Leu)
|
rs886038722
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro)
|
rs376015894
|
0.00001
|
NM_001267550.2(TTN):c.14950G>A (p.Val4984Met)
|
rs903648091
|
0.00001
|
NM_001267550.2(TTN):c.15388G>A (p.Val5130Met)
|
rs765530283
|
0.00001
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)
|
rs727505221
|
0.00001
|
NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser)
|
rs759852969
|
0.00001
|
NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu)
|
rs756791385
|
0.00001
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)
|
rs752107739
|
0.00001
|
NM_001267550.2(TTN):c.21947T>G (p.Leu7316Arg)
|
rs745745237
|
0.00001
|
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)
|
rs370728359
|
0.00001
|
NM_001267550.2(TTN):c.22417G>A (p.Val7473Met)
|
rs775242103
|
0.00001
|
NM_001267550.2(TTN):c.22511C>T (p.Ala7504Val)
|
rs2529481421
|
0.00001
|
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)
|
rs757042397
|
0.00001
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
NM_001267550.2(TTN):c.26482+1G>C
|
rs1440418037
|
0.00001
|
NM_001267550.2(TTN):c.26529G>A (p.Thr8843=)
|
rs747558822
|
0.00001
|
NM_001267550.2(TTN):c.2707G>A (p.Gly903Arg)
|
rs2092996974
|
0.00001
|
NM_001267550.2(TTN):c.27136C>T (p.Pro9046Ser)
|
rs772800519
|
0.00001
|
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg)
|
rs774924294
|
0.00001
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)
|
rs760466007
|
0.00001
|
NM_001267550.2(TTN):c.29999T>C (p.Leu10000Pro)
|
rs768379279
|
0.00001
|
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)
|
rs1553877757
|
0.00001
|
NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala)
|
rs754368714
|
0.00001
|
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys)
|
rs901197333
|
0.00001
|
NM_001267550.2(TTN):c.3169G>A (p.Val1057Ile)
|
rs780035225
|
0.00001
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
NM_001267550.2(TTN):c.33127C>T (p.Pro11043Ser)
|
rs746514747
|
0.00001
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
NM_001267550.2(TTN):c.35380A>G (p.Thr11794Ala)
|
rs751454643
|
0.00001
|
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu)
|
rs777187629
|
0.00001
|
NM_001267550.2(TTN):c.41402G>A (p.Ser13801Asn)
|
rs757590541
|
0.00001
|
NM_001267550.2(TTN):c.41439G>A (p.Arg13813=)
|
rs370755303
|
0.00001
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
NM_001267550.2(TTN):c.43604G>A (p.Arg14535His)
|
rs764250397
|
0.00001
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.45586G>A (p.Ala15196Thr)
|
rs372872095
|
0.00001
|
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr)
|
rs752318420
|
0.00001
|
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)
|
rs373878153
|
0.00001
|
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)
|
rs752514306
|
0.00001
|
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu)
|
rs727503623
|
0.00001
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)
|
rs749438439
|
0.00001
|
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)
|
rs374138859
|
0.00001
|
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)
|
rs794729239
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)
|
rs768961892
|
0.00001
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn)
|
rs779495049
|
0.00001
|
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)
|
rs764568599
|
0.00001
|
NM_001267550.2(TTN):c.56376A>G (p.Ile18792Met)
|
rs794729241
|
0.00001
|
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu)
|
rs1296926879
|
0.00001
|
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn)
|
rs536645864
|
0.00001
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)
|
rs771977738
|
0.00001
|
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn)
|
rs375946418
|
0.00001
|
NM_001267550.2(TTN):c.62825A>G (p.Asn20942Ser)
|
rs769163040
|
0.00001
|
NM_001267550.2(TTN):c.63834C>T (p.Val21278=)
|
rs911870330
|
0.00001
|
NM_001267550.2(TTN):c.64253A>C (p.Tyr21418Ser)
|
rs573165930
|
0.00001
|
NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr)
|
rs749070255
|
0.00001
|
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)
|
rs376921740
|
0.00001
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln)
|
rs770566210
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr)
|
rs879119970
|
0.00001
|
NM_001267550.2(TTN):c.69508G>A (p.Glu23170Lys)
|
rs1334543067
|
0.00001
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg)
|
rs775589244
|
0.00001
|
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)
|
rs775743818
|
0.00001
|
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)
|
rs756824434
|
0.00001
|
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)
|
rs777244038
|
0.00001
|
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)
|
rs776673912
|
0.00001
|
NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe)
|
rs202191466
|
0.00001
|
NM_001267550.2(TTN):c.75142T>C (p.Leu25048=)
|
rs1034492140
|
0.00001
|
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met)
|
rs376821762
|
0.00001
|
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)
|
rs1178033234
|
0.00001
|
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)
|
rs935809232
|
0.00001
|
NM_001267550.2(TTN):c.79855C>T (p.Arg26619Cys)
|
rs757229467
|
0.00001
|
NM_001267550.2(TTN):c.80167C>T (p.Arg26723Cys)
|
rs1412497882
|
0.00001
|
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met)
|
rs773395582
|
0.00001
|
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met)
|
rs748535477
|
0.00001
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)
|
rs746728021
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.84892C>T (p.Arg28298Trp)
|
rs779581886
|
0.00001
|
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)
|
rs397517733
|
0.00001
|
NM_001267550.2(TTN):c.864C>T (p.His288=)
|
rs772543040
|
0.00001
|
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)
|
rs750591986
|
0.00001
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
NM_001267550.2(TTN):c.88735G>A (p.Val29579Ile)
|
rs879204059
|
0.00001
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)
|
rs376494747
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)
|
rs765759269
|
0.00001
|
NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val)
|
rs771491701
|
0.00001
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
0.00001
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)
|
rs774814532
|
0.00001
|
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)
|
rs776682000
|
0.00001
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg)
|
rs373959972
|
0.00001
|
NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val)
|
rs747898161
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)
|
rs1222471099
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)
|
rs778698443
|
0.00001
|
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)
|
rs1554222130
|
0.00001
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr)
|
rs577253222
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)
|
rs749842881
|
0.00001
|
NM_001324144.2(ZNF41):c.38C>T (p.Ala13Val)
|
rs200972908
|
0.00001
|
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg)
|
rs1037521613
|
0.00001
|
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)
|
rs751979396
|
0.00001
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
0.00001
|
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)
|
rs1384182085
|
0.00001
|
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser)
|
rs768317667
|
0.00001
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
0.00001
|
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)
|
rs751603831
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00001
|
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)
|
rs199747285
|
0.00001
|
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)
|
rs1060499993
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
0.00001
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
|
rs780186596
|
0.00001
|
NM_001375524.1(TRRAP):c.1133C>T (p.Thr378Met)
|
rs782605085
|
0.00001
|
NM_001375524.1(TRRAP):c.2651C>G (p.Ala884Gly)
|
rs782162105
|
0.00001
|
NM_001375524.1(TRRAP):c.6806A>G (p.Asn2269Ser)
|
rs529639313
|
0.00001
|
NM_001375524.1(TRRAP):c.9629C>T (p.Thr3210Ile)
|
rs1360401833
|
0.00001
|
NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=)
|
rs1416911485
|
0.00001
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00001
|
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)
|
rs137853030
|
0.00001
|
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)
|
rs1465733702
|
0.00001
|
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)
|
rs1422887607
|
0.00001
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser)
|
rs561470737
|
0.00001
|
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)
|
rs1277996676
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter)
|
rs786205554
|
0.00001
|
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)
|
rs753824908
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)
|
rs766541647
|
0.00001
|
NM_001429.4(EP300):c.6294A>G (p.Gln2098=)
|
rs1190484549
|
0.00001
|
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser)
|
rs754067988
|
0.00001
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001605.3(AARS1):c.2521-5T>G
|
rs1555539335
|
0.00001
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)
|
rs754043007
|
0.00001
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
|
rs1474341500
|
0.00001
|
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)
|
rs886038496
|
0.00001
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
0.00001
|
NM_001853.4(COL9A3):c.369+1G>A
|
rs766029215
|
0.00001
|
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu)
|
rs760689529
|
0.00001
|
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
|
rs1239154521
|
0.00001
|
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)
|
rs146954848
|
0.00001
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
0.00001
|
NM_001875.5(CPS1):c.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
rs141178702
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)
|
rs762808690
|
0.00001
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
0.00001
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)
|
rs755438542
|
0.00001
|
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)
|
rs1055839662
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00001
|
NM_002397.5(MEF2C):c.480T>C (p.Pro160=)
|
rs200518765
|
0.00001
|
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys)
|
rs539740208
|
0.00001
|
NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr)
|
rs1178789950
|
0.00001
|
NM_002473.6(MYH9):c.5854G>C (p.Asp1952His)
|
rs1247127142
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)
|
rs759637817
|
0.00001
|
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)
|
rs747711259
|
0.00001
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00001
|
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)
|
rs749750052
|
0.00001
|
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)
|
rs754246294
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_002693.3(POLG):c.926G>A (p.Arg309His)
|
rs780953863
|
0.00001
|
NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs)
|
rs765937590
|
0.00001
|
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter)
|
rs1438223502
|
0.00001
|
NM_002834.5(PTPN11):c.849G>T (p.Leu283=)
|
rs1380555031
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)
|
rs761533681
|
0.00001
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00001
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00001
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)
|
rs370777371
|
0.00001
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
0.00001
|
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)
|
rs774722673
|
0.00001
|
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr)
|
rs200193956
|
0.00001
|
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
|
rs758565569
|
0.00001
|
NM_003126.4(SPTA1):c.4339-2A>C
|
rs368931075
|
0.00001
|
NM_003126.4(SPTA1):c.7134+2T>G
|
rs1170758603
|
0.00001
|
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
|
rs764157190
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)
|
rs769988372
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)
|
rs778961643
|
0.00001
|
NM_004006.3(DMD):c.985T>A (p.Ser329Thr)
|
rs756590471
|
0.00001
|
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)
|
rs201865375
|
0.00001
|
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)
|
rs962504241
|
0.00001
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)
|
rs879328855
|
0.00001
|
NM_004320.6(ATP2A1):c.1184+1G>A
|
rs551660089
|
0.00001
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00001
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
0.00001
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
NM_004370.6(COL12A1):c.334+1G>A
|
rs1157488856
|
0.00001
|
NM_004370.6(COL12A1):c.441C>T (p.Gly147=)
|
rs370007721
|
0.00001
|
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)
|
rs768824483
|
0.00001
|
NM_004380.3(CREBBP):c.3250+4G>A
|
rs1301154478
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)
|
rs780085174
|
0.00001
|
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln)
|
rs372417584
|
0.00001
|
NM_004614.5(TK2):c.310C>T (p.Arg104Cys)
|
rs1194187379
|
0.00001
|
NM_004614.5(TK2):c.441del (p.Tyr148fs)
|
rs768548319
|
0.00001
|
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met)
|
rs200772226
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)
|
rs386833867
|
0.00001
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)
|
rs764181464
|
0.00001
|
NM_004655.4(AXIN2):c.1713-2A>G
|
rs766170422
|
0.00001
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)
|
rs1010993658
|
0.00001
|
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)
|
rs142461221
|
0.00001
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
|
rs374588028
|
0.00001
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00001
|
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val)
|
rs78244461
|
0.00001
|
NM_005247.4(FGF3):c.314T>A (p.Leu105His)
|
rs1856132408
|
0.00001
|
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser)
|
rs749879411
|
0.00001
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
rs782636507
|
0.00001
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
rs782309363
|
0.00001
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
0.00001
|
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)
|
rs527976707
|
0.00001
|
NM_005458.8(GABBR2):c.1641G>C (p.Lys547Asn)
|
rs1228267111
|
0.00001
|
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys)
|
rs756391068
|
0.00001
|
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu)
|
rs1026022583
|
0.00001
|
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter)
|
rs759220039
|
0.00001
|
NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter)
|
rs2097958823
|
0.00001
|
NM_005529.7(HSPG2):c.253C>T (p.Arg85Ter)
|
rs747493127
|
0.00001
|
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=)
|
rs540961117
|
0.00001
|
NM_005591.4(MRE11):c.1074A>G (p.Pro358=)
|
rs876659934
|
0.00001
|
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)
|
rs876660186
|
0.00001
|
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)
|
rs137852760
|
0.00001
|
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)
|
rs202126269
|
0.00001
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
0.00001
|
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
|
rs1413827545
|
0.00001
|
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)
|
rs794727189
|
0.00001
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
rs761616685
|
0.00001
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NM_005677.4(COLQ):c.57dup (p.Ile20fs)
|
rs777102590
|
0.00001
|
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)
|
rs750586158
|
0.00001
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
NM_005739.4(RASGRP1):c.327-1C>G
|
rs772305736
|
0.00001
|
NM_005857.5(ZMPSTE24):c.1019G>A (p.Trp340Ter)
|
rs1402953071
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)
|
rs13447332
|
0.00001
|
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)
|
rs977038830
|
0.00001
|
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)
|
rs764650203
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp)
|
rs368647424
|
0.00001
|
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr)
|
rs775014444
|
0.00001
|
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)
|
rs181969865
|
0.00001
|
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)
|
rs772606107
|
0.00001
|
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)
|
rs778417127
|
0.00001
|
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)
|
rs201078003
|
0.00001
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
NM_006017.3(PROM1):c.1320C>T (p.Val440=)
|
rs765602610
|
0.00001
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys)
|
rs753071702
|
0.00001
|
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)
|
rs754659608
|
0.00001
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)
|
rs749992643
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys)
|
rs398124227
|
0.00001
|
NM_006516.4(SLC2A1):c.-2C>T
|
rs587784388
|
0.00001
|
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val)
|
rs776583130
|
0.00001
|
NM_006580.4(CLDN16):c.437G>A (p.Arg146His)
|
rs772241737
|
0.00001
|
NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr)
|
rs749509886
|
0.00001
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00001
|
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter)
|
rs1924657431
|
0.00001
|
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn)
|
rs775051211
|
0.00001
|
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
|
rs1275511136
|
0.00001
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006767.4(LZTR1):c.993+1G>A
|
rs770368435
|
0.00001
|
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr)
|
rs765011916
|
0.00001
|
NM_006772.3(SYNGAP1):c.509+5A>C
|
rs780314191
|
0.00001
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala)
|
rs868728039
|
0.00001
|
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)
|
rs577018955
|
0.00001
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)
|
rs150966634
|
0.00001
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007289.4(MME):c.1590G>A (p.Val530=)
|
rs1209332250
|
0.00001
|
NM_007289.4(MME):c.440-2A>C
|
rs200435950
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)
|
rs121908602
|
0.00001
|
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)
|
rs753997682
|
0.00001
|
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
|
rs139019562
|
0.00001
|
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)
|
rs748070271
|
0.00001
|
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys)
|
rs745576236
|
0.00001
|
NM_013254.4(TBK1):c.2139-7G>A
|
rs534404556
|
0.00001
|
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
|
rs149753643
|
0.00001
|
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)
|
rs758367100
|
0.00001
|
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)
|
rs1281345070
|
0.00001
|
NM_014141.6(CNTNAP2):c.3476-7C>T
|
rs1057520468
|
0.00001
|
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)
|
rs955766374
|
0.00001
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
NM_014712.3(SETD1A):c.2928+3G>A
|
rs1596681011
|
0.00001
|
NM_014727.3(KMT2B):c.1435C>T (p.Arg479Trp)
|
rs753528166
|
0.00001
|
NM_014727.3(KMT2B):c.449G>A (p.Arg150Gln)
|
rs962331806
|
0.00001
|
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)
|
rs376075583
|
0.00001
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
0.00001
|
NM_015046.7(SETX):c.6106+3dup
|
rs1844639633
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015107.3(PHF8):c.1731-2A>G
|
rs1437750762
|
0.00001
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
0.00001
|
NM_015330.6(SPECC1L):c.2168A>G (p.Asp723Gly)
|
rs1318284690
|
0.00001
|
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)
|
rs786201031
|
0.00001
|
NM_015340.4(LARS2):c.196C>T (p.Arg66Ter)
|
rs1214818871
|
0.00001
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln)
|
rs760185109
|
0.00001
|
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln)
|
rs759901142
|
0.00001
|
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln)
|
rs751046263
|
0.00001
|
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln)
|
rs772299236
|
0.00001
|
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val)
|
rs1486460574
|
0.00001
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)
|
rs745508510
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs)
|
rs1181733510
|
0.00001
|
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met)
|
rs1466637488
|
0.00001
|
NM_015958.3(DPH5):c.779A>G (p.His260Arg)
|
rs746680777
|
0.00001
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00001
|
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)
|
rs387907012
|
0.00001
|
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)
|
rs747962927
|
0.00001
|
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)
|
rs1486994359
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
NM_017534.6(MYH2):c.4537+1G>A
|
rs567336764
|
0.00001
|
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)
|
rs529367667
|
0.00001
|
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter)
|
rs769712128
|
0.00001
|
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
|
rs199966549
|
0.00001
|
NM_018026.4(PACS1):c.444+9G>A
|
rs748523504
|
0.00001
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
0.00001
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
NM_018127.7(ELAC2):c.245+2T>A
|
rs748684065
|
0.00001
|
NM_018196.4(TMLHE):c.359-2A>G
|
rs782792356
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_019032.6(ADAMTSL4):c.1480C>T (p.Arg494Ter)
|
rs1471582038
|
0.00001
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
0.00001
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00001
|
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
|
rs779915700
|
0.00001
|
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter)
|
rs934913626
|
0.00001
|
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)
|
rs551219437
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
|
rs28939081
|
0.00001
|
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)
|
rs761960636
|
0.00001
|
NM_020822.3(KCNT1):c.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter)
|
rs1860672898
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn)
|
rs146532064
|
0.00001
|
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter)
|
rs863223919
|
0.00001
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
0.00001
|
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)
|
rs764158202
|
0.00001
|
NM_021942.6(TRAPPC11):c.3189+1G>A
|
rs1170374164
|
0.00001
|
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)
|
rs746357591
|
0.00001
|
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=)
|
rs371813954
|
0.00001
|
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=)
|
rs775363690
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)
|
rs201472224
|
0.00001
|
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe)
|
rs760881424
|
0.00001
|
NM_022445.4(TPK1):c.620A>T (p.Asp207Val)
|
rs747262651
|
0.00001
|
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)
|
rs777812455
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00001
|
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)
|
rs757955092
|
0.00001
|
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)
|
rs104894679
|
0.00001
|
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)
|
rs387907039
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024589.3(ROGDI):c.117+1G>A
|
rs570952151
|
0.00001
|
NM_024589.3(ROGDI):c.795G>A (p.Leu265=)
|
rs749782882
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe)
|
rs866512456
|
0.00001
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00001
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)
|
rs779286671
|
0.00001
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
rs767529344
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)
|
rs368364131
|
0.00001
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
0.00001
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=)
|
rs1680670991
|
0.00001
|
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His)
|
rs772929976
|
0.00001
|
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile)
|
rs375653808
|
0.00001
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)
|
rs104894703
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)
|
rs587776943
|
0.00001
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
|
rs751819645
|
0.00001
|
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)
|
rs749620886
|
0.00001
|
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)
|
rs750562280
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
rs772828912
|
0.00001
|
NM_138576.4(BCL11B):c.1482C>T (p.Ala494=)
|
rs765782024
|
0.00001
|
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
|
rs138527651
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
|
rs573985690
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
NM_139242.4(MTFMT):c.9G>A (p.Val3=)
|
rs994088488
|
0.00001
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
NM_144687.4(NLRP12):c.2360dup (p.Met787fs)
|
rs768447330
|
0.00001
|
NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter)
|
rs754135389
|
0.00001
|
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln)
|
rs1468206811
|
0.00001
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
NM_152263.4(TPM3):c.643-3C>T
|
rs529845435
|
0.00001
|
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)
|
rs587777293
|
0.00001
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
NM_152305.3(POGLUT1):c.628C>T (p.Arg210Ter)
|
rs776542098
|
0.00001
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
0.00001
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
NM_152490.5(B3GALNT2):c.1368+1G>A
|
rs1479230229
|
0.00001
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
NM_153006.3(NAGS):c.1268+2T>C
|
rs202041339
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_172351.3(CD46):c.287-2A>G
|
rs759813089
|
0.00001
|
NM_172362.3(KCNH1):c.2957T>C (p.Phe986Ser)
|
rs770510070
|
0.00001
|
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)
|
rs764745147
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr)
|
rs531275086
|
0.00001
|
NM_182760.4(SUMF1):c.445-1G>A
|
rs1237016251
|
0.00001
|
NM_182760.4(SUMF1):c.445-2A>G
|
rs1293658639
|
0.00001
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter)
|
rs771760718
|
0.00001
|
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs)
|
rs1220584620
|
0.00001
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00001
|
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
|
rs1896186645
|
0.00001
|
NM_199242.3(UNC13D):c.1055+1G>A
|
rs754205110
|
0.00001
|
NM_199242.3(UNC13D):c.1727+1G>A
|
rs754882266
|
0.00001
|
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)
|
rs558726483
|
0.00001
|
NM_201384.3(PLEC):c.1304C>T (p.Ala435Val)
|
rs782509734
|
0.00001
|
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)
|
rs376541112
|
0.00001
|
NM_201384.3(PLEC):c.6012G>C (p.Arg2004=)
|
rs782708058
|
0.00001
|
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter)
|
rs782107643
|
0.00001
|
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)
|
rs935096656
|
0.00001
|
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu)
|
rs782085661
|
0.00001
|
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)
|
rs146278035
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00001
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00001
|
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser)
|
rs754336717
|
0.00001
|
NM_212482.4(FN1):c.74G>A (p.Gly25Glu)
|
rs778918483
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
NM_213599.3(ANO5):c.206_207del (p.Asp69fs)
|
rs1254796261
|
0.00001
|
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)
|
rs753138577
|
0.00001
|
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
|
rs575008764
|
0.00001
|
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)
|
rs762035813
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
NC_000010.11:g.71645832del
|
rs1589292855
|
|
NC_000018.9:g.77748581_77748614del34
|
rs535089924
|
|
NC_000019.10:g.11089413C>T
|
rs879254374
|
|
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
|
rs875989865
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.165del (p.Phe55fs)
|
rs1319192670
|
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
rs2071296504
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)
|
rs1131691553
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)
|
rs1489679976
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
|
rs1266940329
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)
|
rs1601586359
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys)
|
rs1557248142
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
rs868934170
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000036.3(AMPD1):c.5del (p.Pro2fs)
|
rs557878856
|
|
NM_000037.4(ANK1):c.1702-2A>G
|
rs1554567249
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs)
|
rs2150605978
|
|
NM_000037.4(ANK1):c.3533-2A>G
|
rs2486763550
|
|
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
|
rs2486750826
|
|
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)
|
rs1172677213
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
|
rs2487374176
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.53T>A (p.Met18Lys)
|
rs200960071
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
NM_000039.3(APOA1):c.532_533dup (p.His179fs)
|
rs781350389
|
|
NM_000039.3(APOA1):c.85dup (p.Gln29fs)
|
rs753348565
|
|
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
|
rs1602280356
|
|
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)
|
rs1554079311
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)
|
rs2112530498
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)
|
rs1554079333
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)
|
rs772017949
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)
|
rs1446467099
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.513C>T (p.Tyr171=)
|
rs786201693
|
|
NM_000051.4(ATM):c.5172dup (p.Asp1725fs)
|
rs2135893222
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7515+1G>T
|
rs1591161831
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
|
rs794728018
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)
|
rs1593787789
|
|
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)
|
rs777362050
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)
|
rs780811477
|
|
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)
|
rs886041336
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000055.4(BCHE):c.100del (p.Ile34fs)
|
rs750309713
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs)
|
rs80359326
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs)
|
rs730881606
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)
|
rs431825323
|
|
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)
|
rs1064795652
|
|
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)
|
rs80358870
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter)
|
rs886040696
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs)
|
rs80359676
|
|
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)
|
rs397507940
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.2063+1G>A
|
rs1407484817
|
|
NM_000069.3(CACNA1S):c.3667-1G>A
|
rs1660735523
|
|
NM_000069.3(CACNA1S):c.4113+1G>A
|
rs1558056376
|
|
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)
|
rs761214441
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1745+4_1745+7del
|
rs794727082
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2179del (p.Trp727fs)
|
rs886042964
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.468C>T (p.Ile156=)
|
rs143942248
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000071.3(CBS):c.209+1G>C
|
rs751464024
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)
|
rs483353046
|
|
NM_000080.4(CHRNE):c.1093del (p.Ala365fs)
|
rs886043239
|
|
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)
|
rs1396286715
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000081.4(LYST):c.285T>C (p.Asp95=)
|
rs747965676
|
|
NM_000081.4(LYST):c.345A>G (p.Gln115=)
|
rs2527133215
|
|
NM_000082.3(ERCC8):c.78_79del
|
rs2112532350
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly)
|
rs1586485438
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)
|
rs1567755602
|
|
NM_000089.4(COL1A2):c.1081G>A (p.Gly361Ser)
|
rs1791894410
|
|
NM_000089.4(COL1A2):c.2187+5G>A
|
rs2484725506
|
|
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp)
|
rs2115952213
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)
|
rs758444182
|
|
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)
|
rs2469885478
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.914_930+29del
|
rs1553683757
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn)
|
rs886038237
|
|
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)
|
rs1002845719
|
|
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)
|
rs1645443275
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
|
rs796051942
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
NM_000101.4(CYBA):c.166del (p.Arg56fs)
|
rs1352931329
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)
|
rs121917734
|
|
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs)
|
rs886047037
|
|
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)
|
rs766256094
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)
|
rs2143711627
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
rs372691338
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)
|
rs78970689
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.555+1G>A
|
rs1375252870
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
NM_000153.4(GALC):c.155del (p.Gly52fs)
|
rs1064793131
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
NM_000155.4(GALT):c.957C>G (p.His319Gln)
|
rs111033792
|
|
NM_000157.4(GBA1):c.1138G>A (p.Ala380Thr)
|
rs781306264
|
|
NM_000157.4(GBA1):c.1240G>C (p.Val414Leu)
|
rs398123528
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.408_412del (p.Pro137fs)
|
rs2148079453
|
|
NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)
|
rs2148075570
|
|
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)
|
rs765633380
|
|
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)
|
rs1417389111
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
NM_000161.3(GCH1):c.626+1G>A
|
rs1555358507
|
|
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp)
|
rs1286804191
|
|
NM_000162.5(GCK):c.370G>C (p.Asp124His)
|
rs759072800
|
|
NM_000162.5(GCK):c.852C>G (p.Pro284=)
|
rs145323719
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
|
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)
|
rs730880453
|
|
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)
|
rs782598150
|
|
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)
|
rs730880441
|
|
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)
|
rs1928127475
|
|
NM_000169.3(GLA):c.137A>G (p.His46Arg)
|
rs398123203
|
|
NM_000169.3(GLA):c.1A>G (p.Met1Val)
|
rs869312265
|
|
NM_000169.3(GLA):c.212A>G (p.Glu71Gly)
|
rs781927744
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.254G>T (p.Gly85Val)
|
rs1569304898
|
|
NM_000169.3(GLA):c.394G>A (p.Gly132Arg)
|
rs1555985855
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)
|
rs398123212
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)
|
rs797044749
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)
|
rs730880450
|
|
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)
|
rs727505292
|
|
NM_000169.3(GLA):c.835C>G (p.Gln279Glu)
|
rs28935485
|
|
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)
|
rs1555985004
|
|
NM_000169.3(GLA):c.865A>T (p.Ile289Phe)
|
rs140329381
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
NM_000169.3(GLA):c.983G>T (p.Gly328Val)
|
rs28935492
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1249_1252del (p.Lys417fs)
|
rs2530599052
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
NM_000179.3(MSH6):c.1729del (p.Arg577fs)
|
rs2104363773
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs)
|
rs1553413717
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3510_3513dup (p.Arg1172Ter)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3792dup (p.Gly1265fs)
|
rs2530849360
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer)
|
rs2530863027
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.4052A>G (p.His1351Arg)
|
rs1325140069
|
|
NM_000179.3(MSH6):c.423del (p.Trp142fs)
|
rs1114167728
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
NM_000179.3(MSH6):c.7C>T (p.Arg3Ter)
|
rs1553408074
|
|
NM_000179.3(MSH6):c.837delinsTAGTGG (p.Gly283fs)
|
rs2530573774
|
|
NM_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del)
|
rs952193754
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
rs749520560
|
|
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)
|
rs757015172
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)
|
rs905880501
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.356-1G>A
|
rs1555621984
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
rs2520754068
|
|
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
|
rs2520901143
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
|
rs2520895871
|
|
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
|
rs2089452549
|
|
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
|
rs113993945
|
|
NM_000202.8(IDS):c.685C>T (p.His229Tyr)
|
rs2520862570
|
|
NM_000202.8(IDS):c.877C>T (p.Gln293Ter)
|
rs2124041126
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
|
rs992336192
|
|
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)
|
rs869320658
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)
|
rs1555830976
|
|
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)
|
rs1413360004
|
|
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
|
rs2147676896
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter)
|
rs1488745091
|
|
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)
|
rs57536312
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del)
|
rs1349925286
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
rs2475237449
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)
|
rs199472905
|
|
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)
|
rs199472995
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000246.4(CIITA):c.1962dup (p.Gly655fs)
|
rs778982759
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1348dup (p.Asp450fs)
|
rs587778906
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.326A>C (p.His109Pro)
|
rs587779004
|
|
NM_000249.4(MLH1):c.381-1G>A
|
rs267607744
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000250.2(MPO):c.1555_1568del (p.Met519fs)
|
rs536522394
|
|
NM_000251.3(MSH2):c.1003del (p.Thr335fs)
|
rs1673074932
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.27G>A (p.Leu9=)
|
rs1553348705
|
|
NM_000251.3(MSH2):c.326A>G (p.Asn109Ser)
|
rs749545338
|
|
NM_000251.3(MSH2):c.753G>A (p.Glu251=)
|
rs1553351682
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.998_999dup (p.Lys334fs)
|
rs2104247018
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000256.3(MYBPC3):c.1224-2A>G
|
rs397515891
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)
|
rs863225113
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser)
|
rs730880880
|
|
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg)
|
rs1566531657
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)
|
rs730880800
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
|
rs121913654
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.133_153dup
|
|
|
NM_000260.4(MYO7A):c.1355dup (p.Cys453fs)
|
rs2496867841
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter)
|
rs760292207
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
|
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
|
rs780609120
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
rs1567944248
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000274.4(OAT):c.772-1G>A
|
rs770390524
|
|
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)
|
rs868238523
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter)
|
rs759876062
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
rs2548123187
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)
|
rs794729213
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000285.4(PEPD):c.418A>T (p.Lys140Ter)
|
rs1170952773
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)
|
rs1601781024
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000298.6(PKLR):c.1168G>A (p.Asp390Asn)
|
rs147034239
|
|
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr)
|
rs1403323591
|
|
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys)
|
rs866472917
|
|
NM_000298.6(PKLR):c.1378G>A (p.Val460Met)
|
rs752034960
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
|
rs1052176
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000312.4(PROC):c.1212dup (p.Pro405fs)
|
rs1333329860
|
|
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)
|
rs1436671530
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys)
|
rs1564837839
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)
|
rs121908546
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)
|
rs748517635
|
|
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)
|
rs121908559
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-5C>T
|
rs191547933
|
|
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)
|
rs1555604867
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)
|
rs199473204
|
|
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
|
rs750836049
|
|
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)
|
rs121912755
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)
|
rs750930293
|
|
NM_000342.4(SLC4A1):c.1353_1380del (p.Phe451fs)
|
rs2509966036
|
|
NM_000342.4(SLC4A1):c.1422del (p.Phe475fs)
|
rs2509965970
|
|
NM_000342.4(SLC4A1):c.16-1G>A
|
rs2509973964
|
|
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=)
|
rs2144611947
|
|
NM_000342.4(SLC4A1):c.184C>T (p.Gln62Ter)
|
rs2509971425
|
|
NM_000342.4(SLC4A1):c.1890+1G>A
|
rs1567830555
|
|
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)
|
rs2509962537
|
|
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter)
|
rs13306787
|
|
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys)
|
rs770569237
|
|
NM_000342.4(SLC4A1):c.2214_2217del (p.Thr739fs)
|
rs2509960878
|
|
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)
|
rs373916826
|
|
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys)
|
rs1167814744
|
|
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)
|
rs2047337144
|
|
NM_000342.4(SLC4A1):c.2655+2_2655+3del
|
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
NM_000342.4(SLC4A1):c.349+1G>A
|
rs1567834739
|
|
NM_000342.4(SLC4A1):c.609+1G>A
|
rs1362663440
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
|
rs542727010
|
|
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
|
rs2143245214
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)
|
rs188677757
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
rs370962049
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.51del (p.Val18fs)
|
rs2495842783
|
|
NM_000360.4(TH):c.779del (p.Arg260fs)
|
rs2495805751
|
|
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)
|
rs727503503
|
|
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)
|
rs397516351
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000369.5(TSHR):c.1803T>A (p.Tyr601Ter)
|
rs759300253
|
|
NM_000372.5(TYR):c.308G>T (p.Cys103Phe)
|
rs1943252098
|
|
NM_000372.5(TYR):c.530T>A (p.Val177Asp)
|
rs571810545
|
|
NM_000380.4(XPA):c.10del (p.Ala4fs)
|
rs779161471
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
rs777372873
|
|
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
|
rs2517876295
|
|
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)
|
rs940485051
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)
|
rs1215189537
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000391.4(TPP1):c.1497del (p.Gly501fs)
|
rs1554901523
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000392.5(ABCC2):c.3741+1G>A
|
rs34937870
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
rs774242947
|
|
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)
|
rs753747037
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)
|
rs137852323
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000426.4(LAMA2):c.1762del (p.Ala588fs)
|
rs786205654
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.5074G>C (p.Val1692Leu)
|
rs567613582
|
|
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs)
|
rs1554312687
|
|
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs)
|
rs867012156
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)
|
rs199474814
|
|
NM_000432.4(MYL2):c.51_61del (p.Phe18fs)
|
rs754744244
|
|
NM_000433.4(NCF2):c.1A>T (p.Met1Leu)
|
rs780810631
|
|
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)
|
rs119103276
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.1437+1G>A
|
rs2129316961
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
|
rs111033302
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
|
rs2518674832
|
|
NM_000444.6(PHEX):c.591A>G (p.Gln197=)
|
rs1556020818
|
|
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser)
|
rs199474690
|
|
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
|
rs1568811489
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser)
|
rs878853986
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
rs138986885
|
|
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys)
|
rs1825682922
|
|
NM_000460.4(THPO):c.13+1G>C
|
rs2108623965
|
|
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)
|
rs775463336
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000466.3(PEX1):c.1891del (p.Ala631fs)
|
rs2075434480
|
|
NM_000466.3(PEX1):c.2039del (p.Pro680fs)
|
rs1269903353
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000476.3(AK1):c.319C>T (p.Arg107Ter)
|
rs104894102
|
|
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3])
|
rs2148158314
|
|
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)
|
rs1408325840
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000485.3(APRT):c.200G>A (p.Arg67Gln)
|
rs762509151
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
|
rs2518322313
|
|
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)
|
rs199476392
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)
|
rs966673017
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000494.4(COL17A1):c.1939+1G>C
|
rs760697124
|
|
NM_000505.4(F12):c.577G>T (p.Glu193Ter)
|
rs1763248340
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)
|
rs755832705
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
rs1967036891
|
|
NM_000512.5(GALNS):c.320-1G>C
|
rs1245504167
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
rs1912290012
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)
|
rs33933481
|
|
NM_000518.4(HBB):c.266T>C (p.Leu89Pro)
|
rs33940204
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.110del (p.Pro37fs)
|
rs267607297
|
|
NM_000518.5(HBB):c.294C>G (p.His98Gln)
|
rs34515413
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.90C>T (p.Gly30=)
|
rs35578002
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
NM_000527.5(LDLR):c.-135C>G
|
rs879254375
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1187-2A>G
|
rs879254823
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu)
|
rs773658037
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
rs869320651
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
rs28942080
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)
|
rs879254423
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
rs879255175
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
rs875989944
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
rs773618064
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
rs28942085
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
|
rs879254455
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn)
|
rs730882080
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)
|
rs875989901
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
rs752596535
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
rs2228671
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.905del (p.Cys302fs)
|
rs1057516130
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
NM_000531.6(OTC):c.803T>C (p.Met268Thr)
|
rs72558449
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
rs2529974111
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=)
|
rs2514489025
|
|
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=)
|
rs1971892935
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr)
|
rs193922844
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs)
|
rs2145831520
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)
|
rs1599641280
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg)
|
rs1568594068
|
|
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=)
|
rs570469685
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu)
|
rs1599674197
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
|
NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp)
|
rs1555805797
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)
|
rs758925580
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)
|
rs193922802
|
|
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
|
rs1057518940
|
|
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)
|
rs28933396
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe)
|
rs767343838
|
|
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)
|
rs193922818
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg)
|
rs555470100
|
|
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT
|
rs2514371354
|
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
|
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)
|
rs1053579438
|
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
|
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)
|
rs193922832
|
|
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=)
|
rs2514406217
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)
|
rs749656679
|
|
NM_000540.3(RYR1):c.9983del (p.Gly3328fs)
|
rs2145682923
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.2072G>A (p.Arg691His)
|
rs370553131
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.2389A>G (p.Ile797Val)
|
rs1240217406
|
|
NM_000548.5(TSC2):c.2597C>T (p.Ala866Val)
|
rs1261601321
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.336+1G>T
|
rs45517102
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.481+1G>A
|
rs45488500
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.1A>G (p.Met1Val)
|
rs1060503557
|
|
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro)
|
rs745569482
|
|
NM_000552.5(VWF):c.50dup (p.Leu17fs)
|
rs751286556
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
|
rs770133920
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
rs2524757369
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3589-1G>A
|
rs1289339080
|
|
NM_000642.3(AGL):c.664+1G>A
|
rs61811105
|
|
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg)
|
rs121918620
|
|
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)
|
rs121918620
|
|
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)
|
rs1570987954
|
|
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)
|
rs2122143379
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter)
|
rs1650332196
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)
|
rs1560442716
|
|
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
|
rs2475296530
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter)
|
rs2100677045
|
|
NM_000969.5(RPL5):c.3+1G>A
|
rs2524440268
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
rs1336022942
|
|
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs)
|
rs757142781
|
|
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)
|
rs780114238
|
|
NM_001001548.3(CD36):c.660_664del (p.Asn220fs)
|
rs768699378
|
|
NM_001001548.3(CD36):c.660_669del (p.Asn220fs)
|
rs778808650
|
|
NM_001001548.3(CD36):c.949dup (p.Ile317fs)
|
rs70961716
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
|
rs1657737496
|
|
NM_001008212.2(OPTN):c.76dup (p.His26fs)
|
rs753966040
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter)
|
rs1163930676
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
rs758369264
|
|
NM_001013703.4(EIF2AK4):c.4065+1G>T
|
rs776140816
|
|
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)
|
rs200219135
|
|
NM_001017420.3(ESCO2):c.1654C>T (p.Arg552Ter)
|
rs991672013
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)
|
rs1289665675
|
|
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)
|
rs1283566463
|
|
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
|
rs1428979499
|
|
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
|
rs2540724191
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
NM_001029896.2(WDR45):c.827+1G>T
|
rs1557083958
|
|
NM_001029896.2(WDR45):c.966dup (p.Val323fs)
|
rs797046105
|
|
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)
|
rs587777067
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
|
rs375972545
|
|
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)
|
rs587784453
|
|
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739
|
|
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)
|
rs794728792
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)
|
rs1699477928
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
NM_001041.4(SI):c.853G>T (p.Glu285Ter)
|
rs758259365
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)
|
rs757984572
|
|
NM_001077415.3(CRELD1):c.566del (p.Gly189fs)
|
rs1559337563
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
|
rs751484879
|
|
NM_001080.3(ALDH5A1):c.1015-3C>G
|
rs2127387935
|
|
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)
|
rs1553621798
|
|
NM_001081.4(CUBN):c.2496dup (p.Pro833fs)
|
rs1554816715
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
|
rs1193422410
|
|
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)
|
rs2144406630
|
|
NM_001083962.2(TCF4):c.550-2A>G
|
rs863224934
|
|
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)
|
rs727504175
|
|
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)
|
rs750862009
|
|
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)
|
rs1554042050
|
|
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)
|
rs1553255312
|
|
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)
|
rs398123563
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)
|
rs886039472
|
|
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs)
|
rs748327666
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001102564.3(IFT43):c.296-5661G>A
|
rs150373788
|
|
NM_001102564.3(IFT43):c.296-5686_296-5685del
|
rs750135817
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser)
|
rs587783106
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)
|
rs1359408831
|
|
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9])
|
rs878853629
|
|
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6])
|
rs878853637
|
|
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)
|
rs766602053
|
|
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter)
|
rs1057518798
|
|
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val)
|
rs2520063904
|
|
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
|
rs748920885
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)
|
rs1064793075
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)
|
rs2112457636
|
|
NM_001128840.3(CACNA1D):c.2919-6C>T
|
rs2473926499
|
|
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)
|
rs775882768
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)
|
rs869320716
|
|
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys)
|
rs376337792
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs)
|
rs774402454
|
|
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)
|
rs1446214240
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer)
|
rs886043884
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_001134407.3(GRIN2A):c.1777+6G>T
|
rs76549675
|
|
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)
|
rs145495027
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)
|
rs1324125372
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser)
|
rs763516197
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=)
|
rs973943297
|
|
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)
|
rs554899632
|
|
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu)
|
rs374262841
|
|
NM_001142864.4(PIEZO1):c.3988G>A (p.Ala1330Thr)
|
rs866681472
|
|
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu)
|
rs748928863
|
|
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=)
|
rs192176652
|
|
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
|
rs764374591
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)
|
rs200291894
|
|
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met)
|
rs146432823
|
|
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr)
|
rs751840512
|
|
NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu)
|
rs370589003
|
|
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)
|
rs2141424841
|
|
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
|
rs2542982542
|
|
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro)
|
rs1168752344
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)
|
rs1568480054
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro)
|
rs201072996
|
|
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val)
|
rs375357016
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)
|
rs781507889
|
|
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)
|
rs796052986
|
|
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs)
|
rs796053081
|
|
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs)
|
rs1689682880
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)
|
rs886039464
|
|
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile)
|
rs796052962
|
|
NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys)
|
rs17149149
|
|
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)
|
rs765816079
|
|
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
|
rs1750104210
|
|
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs)
|
rs1064794240
|
|
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile)
|
rs121912711
|
|
NM_001184.4(ATR):c.1491_1492insAA (p.Gln498fs)
|
rs1417190717
|
|
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)
|
rs778073001
|
|
NM_001193369.2(DIDO1):c.468C>T (p.Ser156=)
|
rs765566169
|
|
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)
|
rs770336804
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
|
rs886041856
|
|
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)
|
rs753324947
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe)
|
rs869025337
|
|
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)
|
rs137852748
|
|
NM_001243279.3(ACSF3):c.1367-23_1396del
|
rs1567745645
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)
|
rs797045050
|
|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)
|
rs672601368
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
|
rs754338004
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His)
|
rs72629786
|
|
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)
|
rs372875128
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile)
|
rs770730954
|
|
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)
|
rs555476312
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
rs2468365185
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)
|
rs1575169924
|
|
NM_001267550.2(TTN):c.15553G>A (p.Val5185Ile)
|
rs370535651
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser)
|
rs764035021
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.2423G>A (p.Arg808His)
|
rs1423076539
|
|
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)
|
rs777349143
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val)
|
rs533172128
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.31660G>A (p.Glu10554Lys)
|
rs1352006092
|
|
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)
|
rs181395238
|
|
NM_001267550.2(TTN):c.33206C>T (p.Pro11069Leu)
|
rs1577342347
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3])
|
rs397517548
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs)
|
rs2154347788
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
NM_001267550.2(TTN):c.43717A>T (p.Met14573Leu)
|
rs755610701
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)
|
rs747654057
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
rs367560855
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
NM_001267550.2(TTN):c.51437-1G>C
|
rs2055916646
|
|
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His)
|
rs757018821
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
NM_001267550.2(TTN):c.55616T>C (p.Val18539Ala)
|
rs573082979
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.59442A>G (p.Pro19814=)
|
rs1304742332
|
|
NM_001267550.2(TTN):c.61483C>G (p.Arg20495Gly)
|
rs370128504
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn)
|
rs558727238
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)
|
rs774395395
|
|
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile)
|
rs373848128
|
|
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)
|
rs763729258
|
|
NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe)
|
rs540425352
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
NM_001267550.2(TTN):c.70885A>G (p.Met23629Val)
|
rs988918025
|
|
NM_001267550.2(TTN):c.71268T>C (p.Gly23756=)
|
rs1709508227
|
|
NM_001267550.2(TTN):c.71305A>G (p.Thr23769Ala)
|
rs776889753
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
NM_001267550.2(TTN):c.74262A>G (p.Val24754=)
|
rs745865847
|
|
NM_001267550.2(TTN):c.7595-7del
|
rs774519095
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs)
|
rs794729345
|
|
NM_001267550.2(TTN):c.7876C>T (p.Leu2626Phe)
|
rs944728845
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)
|
rs371788070
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)
|
rs56330345
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr)
|
rs879126335
|
|
NM_001267550.2(TTN):c.91808A>G (p.Asn30603Ser)
|
rs794729533
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly)
|
rs190282707
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)
|
rs377598016
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp)
|
rs776113114
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)
|
rs2540396625
|
|
NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln)
|
rs397514600
|
|
NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter)
|
rs2128460324
|
|
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)
|
rs370080269
|
|
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
|
rs202067345
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)
|
rs564373258
|
|
NM_001283009.2(RTEL1):c.901_919+72del
|
rs1569090870
|
|
NM_001286577.2(C2CD3):c.994dup (p.Val332fs)
|
rs750700691
|
|
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)
|
rs2148193855
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
NM_001312909.2(FAM111A):c.1515dup (p.Ala506fs)
|
rs762116864
|
|
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter)
|
rs2142828228
|
|
NM_001321075.3(DLG4):c.990C>T (p.Gly330=)
|
rs769940216
|
|
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
|
rs200333632
|
|
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)
|
rs1555230905
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001330288.2(SMARCC2):c.1382+1G>A
|
rs2540917266
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
rs747501109
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
rs2517424327
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)
|
rs548265796
|
|
NM_001355436.2(SPTB):c.1249C>T (p.Gln417Ter)
|
rs2139606980
|
|
NM_001355436.2(SPTB):c.1342-10G>A
|
rs1037576854
|
|
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp)
|
rs1594796374
|
|
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln)
|
rs1452760098
|
|
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)
|
rs121918651
|
|
NM_001355436.2(SPTB):c.2170C>T (p.Gln724Ter)
|
rs1327286039
|
|
NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter)
|
rs2503126931
|
|
NM_001355436.2(SPTB):c.4399del (p.Pro1466_Leu1467insTer)
|
rs2139533161
|
|
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
|
rs760938057
|
|
NM_001355436.2(SPTB):c.4973+5G>A
|
rs1555367789
|
|
NM_001355436.2(SPTB):c.5856del (p.Ile1952fs)
|
rs1158755002
|
|
NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=)
|
rs2139488882
|
|
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)
|
rs121918649
|
|
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)
|
rs2139480757
|
|
NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly)
|
rs1235889026
|
|
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)
|
rs1555371769
|
|
NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)
|
rs753593714
|
|
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)
|
rs796052226
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
|
rs1557229599
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met)
|
rs2489047024
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)
|
rs80356474
|
|
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu)
|
rs2145192745
|
|
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)
|
rs747830413
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)
|
rs1462578042
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370658.1(BTD):c.500del (p.Pro167fs)
|
rs2125500629
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
|
rs377174668
|
|
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)
|
rs1289499829
|
|
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)
|
rs769795916
|
|
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
|
rs121909574
|
|
NM_001374385.1(ATP8B1):c.136C>T (p.Arg46Ter)
|
rs775827012
|
|
NM_001374385.1(ATP8B1):c.3118G>A (p.Gly1040Arg)
|
rs1438249656
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln)
|
rs2141275001
|
|
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)
|
rs1064796765
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001376571.1(MADD):c.4887G>T (p.Ser1629=)
|
rs184207033
|
|
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs)
|
rs1565359085
|
|
NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln)
|
rs121434427
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala)
|
rs1921140611
|
|
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
|
rs1553758021
|
|
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
|
rs754134498
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)
|
rs1064794019
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
|
rs1322586390
|
|
NM_001379659.1(ZNF142):c.5036del (p.Pro1679fs)
|
rs771085529
|
|
NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter)
|
rs2469743343
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
rs527372531
|
|
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg)
|
rs2503622228
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)
|
rs876657685
|
|
NM_001429.4(EP300):c.2997+1G>A
|
rs1169505007
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.6970dup (p.His2324fs)
|
rs754418509
|
|
NM_001457.4(FLNB):c.1711G>A (p.Val571Met)
|
rs760127618
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
rs375414341
|
|
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)
|
rs1808888920
|
|
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)
|
rs769106207
|
|
NM_001458.5(FLNC):c.752T>C (p.Met251Thr)
|
rs387906586
|
|
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln)
|
rs767794768
|
|
NM_001540.5(HSPB1):c.180dup (p.Ala61fs)
|
rs1064796370
|
|
NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg)
|
rs1064795873
|
|
NM_001567.4(INPPL1):c.2213-2A>C
|
rs1948918434
|
|
NM_001611.5(ACP5):c.766G>C (p.Val256Leu)
|
rs146196342
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001658.4(ARF1):c.296G>A (p.Arg99His)
|
rs1558087712
|
|
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)
|
rs398122973
|
|
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)
|
rs1166271142
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys)
|
rs1057517719
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs)
|
rs1330933906
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu)
|
rs541676352
|
|
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
rs138718997
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001875.5(CPS1):c.4404+3A>G
|
rs2469385921
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)
|
rs1064793935
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)
|
rs1555143796
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)
|
rs764792655
|
|
NM_001958.5(EEF1A2):c.1029+3G>T
|
rs111392970
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002055.5(GFAP):c.236G>A (p.Arg79His)
|
rs59285727
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
NM_002181.4(IHH):c.472C>T (p.Arg158Cys)
|
rs2469514264
|
|
NM_002185.5(IL7R):c.235G>T (p.Glu79Ter)
|
rs1354581284
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)
|
rs1474512248
|
|
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter)
|
rs2136073462
|
|
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)
|
rs754699820
|
|
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)
|
rs1561875704
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del)
|
rs144879674
|
|
NM_002241.5(KCNJ10):c.626T>C (p.Ile209Thr)
|
rs1404425302
|
|
NM_002250.3(KCNN4):c.844G>A (p.Val282Met)
|
rs1057519076
|
|
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)
|
rs1057519077
|
|
NM_002354.3(EPCAM):c.73G>T (p.Glu25Ter)
|
rs1385489500
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002435.3(MPI):c.1022del (p.Pro341fs)
|
rs765310894
|
|
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)
|
rs1661886822
|
|
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
|
rs2465683495
|
|
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)
|
rs1565943228
|
|
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)
|
rs121913621
|
|
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)
|
rs267606902
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002510.3(GPNMB):c.319_332del (p.Lys107fs)
|
rs758729806
|
|
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp)
|
rs1218945005
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
|
rs2519331621
|
|
NM_002693.3(POLG):c.1251-5C>T
|
rs199621975
|
|
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)
|
rs760135553
|
|
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs)
|
rs1282521429
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)
|
rs387906698
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)
|
rs869025501
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys)
|
rs1694399198
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)
|
rs146894194
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)
|
rs1057518297
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.952-5_955del
|
rs2126787981
|
|
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)
|
rs281875187
|
|
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del)
|
rs113070757
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)
|
rs2058358241
|
|
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)
|
rs567686069
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
|
rs775280006
|
|
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1902G>A (p.Lys634=)
|
rs374442926
|
|
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
|
rs1265895182
|
|
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
|
rs2525111885
|
|
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
|
rs772799574
|
|
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
|
rs1161647781
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
|
rs200748323
|
|
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
|
rs1485424248
|
|
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
|
rs974172420
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003126.4(SPTA1):c.678+7T>C
|
rs1654731473
|
|
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)
|
rs121918641
|
|
NM_003172.4(SURF1):c.324-11T>G
|
rs375398247
|
|
NM_003193.5(TBCE):c.464T>A (p.Ile155Asn)
|
rs780472451
|
|
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)
|
rs80338878
|
|
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
|
rs886039551
|
|
NM_003322.6(TULP1):c.1266C>T (p.Thr422=)
|
rs747534563
|
|
NM_003331.5(TYK2):c.789C>T (p.Leu263=)
|
rs761512367
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)
|
rs2141926322
|
|
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)
|
rs374661051
|
|
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)
|
rs2130810631
|
|
NM_003477.3(PDHX):c.711dup (p.Thr238fs)
|
rs776567343
|
|
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del)
|
rs759803583
|
|
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=)
|
rs905791071
|
|
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)
|
rs398123724
|
|
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly)
|
rs2148537151
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro)
|
rs2145803751
|
|
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser)
|
rs1555900746
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)
|
rs1382083552
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)
|
rs104894709
|
|
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)
|
rs113993967
|
|
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln)
|
rs200152314
|
|
NM_003742.4(ABCB11):c.585G>C (p.Val195=)
|
rs11568365
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs)
|
rs779536510
|
|
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)
|
rs1555256440
|
|
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)
|
rs2107566038
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)
|
rs754643632
|
|
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
|
rs758213105
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)
|
rs1025829736
|
|
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)
|
rs369113632
|
|
NM_003982.4(SLC7A7):c.499+1G>A
|
rs386833817
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.3(DMD):c.*479CA[6]
|
rs763028610
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly)
|
rs2148292190
|
|
NM_004006.3(DMD):c.10504del (p.Glu3502fs)
|
rs1556024147
|
|
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter)
|
rs2147935982
|
|
NM_004006.3(DMD):c.1128dup (p.Asp377fs)
|
rs886044624
|
|
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer)
|
rs1602459861
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.170T>G (p.Leu57Arg)
|
rs886044431
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
NM_004006.3(DMD):c.2603del (p.Ser868fs)
|
rs886042348
|
|
NM_004006.3(DMD):c.2623-1G>T
|
rs794729005
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3276+2del
|
rs1557369964
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3639dup (p.Val1214fs)
|
rs398123943
|
|
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val)
|
rs886042839
|
|
NM_004006.3(DMD):c.3668G>C (p.Ser1223Thr)
|
rs2098315075
|
|
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3747del (p.Trp1249fs)
|
rs398123945
|
|
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)
|
rs1557359192
|
|
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)
|
rs1603632326
|
|
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)
|
rs886042347
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
|
rs2520270976
|
|
NM_004006.3(DMD):c.649+5G>T
|
rs1557047808
|
|
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
|
rs2077187880
|
|
NM_004006.3(DMD):c.7070del (p.Pro2357fs)
|
rs2532452677
|
|
NM_004006.3(DMD):c.76A>G (p.Asn26Asp)
|
rs1057521321
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs)
|
rs2105985030
|
|
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs)
|
rs752521456
|
|
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer)
|
rs1389863115
|
|
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)
|
rs2030801584
|
|
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)
|
rs2494100057
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)
|
rs572038196
|
|
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu)
|
rs1847160690
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)
|
rs61754865
|
|
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)
|
rs751365374
|
|
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)
|
rs368234110
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala)
|
rs945866627
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn)
|
rs1555515445
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)
|
rs886043992
|
|
NM_004370.5(COL12A1):c.7356del
|
rs1473576494
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)
|
rs772003652
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
NM_004444.5(EPHB4):c.896C>G (p.Ser299Ter)
|
rs964985310
|
|
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)
|
rs863224869
|
|
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs)
|
rs2150305310
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004544.4(NDUFA10):c.604dup (p.His202fs)
|
rs746019378
|
|
NM_004586.3(RPS6KA3):c.1603-5A>G
|
rs1569194162
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)
|
rs864321629
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
NM_004628.5(XPC):c.1872+1G>C
|
rs1559374923
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter)
|
rs1829056657
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr)
|
rs529954883
|
|
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del)
|
rs776606194
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
NM_004817.4(TJP2):c.1444del (p.Asp482fs)
|
rs727503479
|
|
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)
|
rs2469652231
|
|
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)
|
rs2079620247
|
|
NM_004959.5(NR5A1):c.938G>A (p.Arg313His)
|
rs1554721235
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
rs876657389
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
rs764306025
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
rs1177916529
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
rs1465463508
|
|
NM_004999.4(MYO6):c.1983+1G>A
|
rs2149321922
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005032.7(PLS3):c.1290dup (p.Gln431fs)
|
rs2147585558
|
|
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)
|
rs752600100
|
|
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)
|
rs1379395211
|
|
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
|
rs779892361
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)
|
rs104894269
|
|
NM_005188.4(CBL):c.1296T>C (p.Asp432=)
|
rs1188095865
|
|
NM_005188.4(CBL):c.1470A>G (p.Gln490=)
|
rs1949969576
|
|
NM_005215.4(DCC):c.437_440del (p.Thr146fs)
|
rs2039877071
|
|
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)
|
rs3075570
|
|
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)
|
rs1555321334
|
|
NM_005257.6(GATA6):c.1367G>A (p.Arg456His)
|
rs387906819
|
|
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)
|
rs864309703
|
|
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)
|
rs782199122
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
|
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)
|
rs138681270
|
|
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs746142129
|
|
NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn)
|
rs2491384090
|
|
NM_005458.8(GABBR2):c.240C>A (p.Ala80=)
|
rs753673862
|
|
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup)
|
rs751111546
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
|
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)
|
rs150666616
|
|
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter)
|
rs1393101824
|
|
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro)
|
rs149319607
|
|
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln)
|
rs111846397
|
|
NM_005535.3(IL12RB1):c.599del (p.Leu200fs)
|
rs1169002203
|
|
NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter)
|
rs781458974
|
|
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)
|
rs774277300
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)
|
rs1057518966
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
|
rs2522163743
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)
|
rs112180170
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_005677.4(COLQ):c.955-2A>T
|
rs1172409117
|
|
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)
|
rs587781327
|
|
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)
|
rs764968413
|
|
NM_005732.4(RAD50):c.1722dup (p.Gln575fs)
|
rs587782543
|
|
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)
|
rs786201789
|
|
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)
|
rs1060501936
|
|
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)
|
rs587781930
|
|
NM_005857.5(ZMPSTE24):c.951_954+2del
|
rs747563189
|
|
NM_005859.5(PURA):c.1A>G (p.Met1Val)
|
rs793888530
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_005908.4(MANBA):c.177+2T>C
|
rs779221957
|
|
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)
|
rs121913564
|
|
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)
|
rs1644092513
|
|
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)
|
rs1056919085
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
|
rs775902505
|
|
NM_006019.4(TCIRG1):c.1555-2A>C
|
rs758977199
|
|
NM_006031.6(PCNT):c.9535dup (p.Val3179fs)
|
rs747058622
|
|
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)
|
rs749464576
|
|
NM_006063.3(KLHL41):c.215del (p.Lys72fs)
|
rs775513051
|
|
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
|
rs587784505
|
|
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)
|
rs483352809
|
|
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)
|
rs2146266663
|
|
NM_006180.6(NTRK2):c.211A>G (p.Ile71Val)
|
rs1169880026
|
|
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu)
|
rs147438050
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
NM_006269.2(RP1):c.3428del (p.Asn1143fs)
|
rs1806088809
|
|
NM_006280.3(SSR4):c.417+1G>A
|
rs1057518735
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)
|
rs1197928094
|
|
NM_006493.4(CLN5):c.173+5G>A
|
rs2034192763
|
|
NM_006493.4(CLN5):c.187del (p.Arg63fs)
|
rs1555273881
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)
|
rs1555274005
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)
|
rs104893726
|
|
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)
|
rs587777483
|
|
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp)
|
rs1131691316
|
|
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu)
|
rs2482857854
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
|
rs200651017
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
NM_006767.4(LZTR1):c.1149+1G>A
|
rs767191322
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.2113C>T (p.Gln705Ter)
|
rs778396468
|
|
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs)
|
rs1231204217
|
|
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu)
|
rs781431741
|
|
NM_006767.4(LZTR1):c.677dup (p.Ser227fs)
|
rs777054968
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006767.4(LZTR1):c.993+1G>T
|
rs770368435
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser)
|
rs1561789701
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn)
|
rs2143171648
|
|
NM_006852.6(TLK2):c.1550+1G>A
|
rs2147105351
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006949.4(STXBP2):c.1538+12G>C
|
rs748313252
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)
|
rs1599397070
|
|
NM_006950.3(SYN1):c.528-2A>T
|
rs1556860663
|
|
NM_007035.4(KERA):c.1026del (p.Cys343fs)
|
rs386833984
|
|
NM_007055.4(POLR3A):c.2988+1G>A
|
rs201733323
|
|
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup)
|
rs749785358
|
|
NM_007118.4(TRIO):c.7050del (p.Val2351fs)
|
rs746654944
|
|
NM_007118.4(TRIO):c.7136C>G (p.Pro2379Arg)
|
rs781081298
|
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007215.4(POLG2):c.417A>G (p.Leu139=)
|
rs1555669550
|
|
NM_007215.4(POLG2):c.873C>G (p.Tyr291Ter)
|
rs1555668353
|
|
NM_007217.4(PDCD10):c.584dup (p.Asn195fs)
|
rs1559941903
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)
|
rs55650082
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)
|
rs786202906
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)
|
rs80357980
|
|
NM_007294.4(BRCA1):c.411dup (p.Leu138fs)
|
rs886040205
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.81-2A>C
|
rs397509326
|
|
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)
|
rs193922922
|
|
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer)
|
rs1555229978
|
|
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)
|
rs782577883
|
|
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)
|
rs80358295
|
|
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)
|
rs80358303
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
rs2489236019
|
|
NM_012203.2(GRHPR):c.540del (p.Leu181fs)
|
rs180177315
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser)
|
rs77535003
|
|
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)
|
rs747536139
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)
|
rs1294714307
|
|
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)
|
rs2151745705
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp)
|
rs758595075
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.333+1G>A
|
rs1318210394
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014049.5(ACAD9):c.359del (p.Phe120fs)
|
rs863224844
|
|
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)
|
rs540745201
|
|
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)
|
rs766777011
|
|
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser)
|
rs1162711197
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)
|
rs1566123619
|
|
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs)
|
rs1882233400
|
|
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter)
|
rs779716535
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014458.4(KLHL20):c.971G>A (p.Gly324Asp)
|
rs2525470752
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter)
|
rs1644169357
|
|
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu)
|
rs749549494
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)
|
rs730881214
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
NM_014855.3(AP5Z1):c.969+3_969+6dup
|
rs748280348
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)
|
rs1553318347
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015047.3(EMC1):c.2300G>T (p.Gly767Val)
|
rs766820627
|
|
NM_015087.5(SPART):c.988A>G (p.Met330Val)
|
rs1399213398
|
|
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
|
rs2518488079
|
|
NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter)
|
rs2510122804
|
|
NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe)
|
rs575022840
|
|
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
|
rs2499932052
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)
|
rs762939072
|
|
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)
|
rs941230062
|
|
NM_015346.4(ZFYVE26):c.2554-1G>C
|
rs760559263
|
|
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)
|
rs779686052
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
rs745366624
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
|
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)
|
rs2484682116
|
|
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
|
rs1789934246
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_015599.3(PGM3):c.378dup (p.Arg127Ter)
|
rs2128506370
|
|
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)
|
rs868193249
|
|
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)
|
rs1201229554
|
|
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro)
|
rs587777080
|
|
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)
|
rs2039539644
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe)
|
rs119476047
|
|
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)
|
rs748735420
|
|
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu)
|
rs770589013
|
|
NM_016035.5(COQ4):c.402+1G>A
|
rs747779231
|
|
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)
|
rs745661722
|
|
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)
|
rs772721937
|
|
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His)
|
rs760780597
|
|
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn)
|
rs375004645
|
|
NM_016213.5(TRIP4):c.180del (p.Gly61fs)
|
rs1446427502
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016335.6(PRODH):c.850-10A>G
|
rs535186636
|
|
NM_016341.4(PLCE1):c.6901C>T (p.Arg2301Ter)
|
rs1193230553
|
|
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)
|
rs904520404
|
|
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter)
|
rs200839945
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016630.7(SPG21):c.153del (p.Val52fs)
|
rs2140441397
|
|
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)
|
rs775657157
|
|
NM_016648.4(LARP7):c.297_303+2del
|
rs2149262033
|
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
|
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)
|
rs199469635
|
|
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)
|
rs767243766
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)
|
rs786205508
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
|
rs776083030
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018076.5(ODAD2):c.2800-2A>G
|
rs1297261096
|
|
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)
|
rs1248439783
|
|
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)
|
rs972404343
|
|
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)
|
rs1359575116
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)
|
rs754282058
|
|
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)
|
rs2125442722
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018418.5(SPATA7):c.20_23delTCAG
|
rs527236050
|
|
NM_018451.5(CPAP):c.568+7T>G
|
rs1258929370
|
|
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)
|
rs752316853
|
|
NM_018489.3(ASH1L):c.466G>A (p.Glu156Lys)
|
rs866370455
|
|
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)
|
rs770740586
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs)
|
rs747160538
|
|
NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=)
|
rs771709345
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
|
rs776990436
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter)
|
rs148382606
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)
|
rs1718431677
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020320.5(RARS2):c.1A>G (p.Met1Val)
|
rs774923951
|
|
NM_020320.5(RARS2):c.474_477del (p.Glu159fs)
|
rs774755297
|
|
NM_020376.4(PNPLA2):c.798dup (p.Ala267fs)
|
rs1343828094
|
|
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)
|
rs1557813850
|
|
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)
|
rs770747626
|
|
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
|
rs777659233
|
|
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)
|
rs767530943
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.748-2_760del
|
rs758934983
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)
|
rs761820222
|
|
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)
|
rs201268862
|
|
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
|
rs2515653495
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020800.3(IFT80):c.958-1G>T
|
rs202051267
|
|
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)
|
rs148402804
|
|
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup)
|
rs779283808
|
|
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup)
|
rs528020839
|
|
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)
|
rs768006618
|
|
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)
|
rs765421461
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_020975.6(RET):c.1146G>A (p.Gln382=)
|
rs770637118
|
|
NM_020975.6(RET):c.1879+1G>A
|
rs1588873476
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr)
|
rs2143704776
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg)
|
rs77606940
|
|
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)
|
rs749980819
|
|
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)
|
rs1443792358
|
|
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp)
|
rs1159929268
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)
|
rs776817952
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_022041.4(GAN):c.626del (p.Ile209fs)
|
rs1910429809
|
|
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)
|
rs371616275
|
|
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)
|
rs753460205
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)
|
rs752593298
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)
|
rs121918217
|
|
NM_024306.5(FA2H):c.786+1G>A
|
rs1567633766
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)
|
rs1422405747
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met)
|
rs762121901
|
|
NM_024757.5(EHMT1):c.324C>G (p.His108Gln)
|
rs574402576
|
|
NM_024915.4(GRHL2):c.21-2A>G
|
rs1811191593
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)
|
rs730882179
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
|
rs371727967
|
|
NM_025150.5(TARS2):c.774+5G>T
|
rs2526278171
|
|
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)
|
rs587777593
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs)
|
rs1599563995
|
|
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del)
|
rs1235588816
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)
|
rs1085307129
|
|
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)
|
rs587777669
|
|
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)
|
rs200595389
|
|
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del)
|
rs760683509
|
|
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3])
|
rs1447722708
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)
|
rs1562882049
|
|
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)
|
rs752450983
|
|
NM_031483.7(ITCH):c.957A>G (p.Leu319=)
|
rs2515681435
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs)
|
rs1749485242
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)
|
rs1723609962
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly)
|
rs141983653
|
|
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)
|
rs756408696
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
NM_032861.4(SERAC1):c.1167_1170del
|
rs772296795
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
rs2543012369
|
|
NM_033056.4(PCDH15):c.4368-3_4369dup
|
rs866966373
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033124.5(DRC2):c.913C>T (p.Arg305Ter)
|
rs759186574
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
rs758612012
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)
|
rs199476337
|
|
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)
|
rs104886450
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.150_151del (p.Gln51fs)
|
rs770607110
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs)
|
rs759150616
|
|
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs)
|
rs2132146546
|
|
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)
|
rs541633673
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)
|
rs549085827
|
|
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
|
NM_057176.3(BSND):c.452del (p.Pro151fs)
|
rs765135576
|
|
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)
|
rs886041401
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)
|
rs575604496
|
|
NM_058246.4(DNAJB6):c.236-3C>G
|
rs762487513
|
|
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)
|
rs387907150
|
|
NM_080675.4(SUN5):c.381del (p.Val128fs)
|
rs781693813
|
|
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)
|
rs1772090962
|
|
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter)
|
rs1417182811
|
|
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
|
rs745874653
|
|
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)
|
rs886044584
|
|
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)
|
rs372806452
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)
|
rs587777059
|
|
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)
|
rs762550967
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)
|
rs587784534
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_133433.4(NIPBL):c.1808del (p.Lys603fs)
|
rs727503767
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)
|
rs104894113
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)
|
rs796052088
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
NM_139343.3(BIN1):c.1002+2T>C
|
rs1553458019
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_145045.5(ODAD3):c.1116+1G>T
|
rs761992279
|
|
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr)
|
rs201409113
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
rs587778771
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter)
|
rs1560034617
|
|
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=)
|
rs2106355380
|
|
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
|
rs753959716
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)
|
rs2104884982
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs)
|
rs2130858031
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
NM_152743.4(BRAT1):c.1710del (p.Gln571fs)
|
rs756489141
|
|
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)
|
rs1562582216
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
|
rs2509280602
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.1985+5G>A
|
rs754508002
|
|
NM_153682.3(PIGP):c.384del (p.Glu129fs)
|
rs778481061
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.640-10A>G
|
rs80356807
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)
|
rs2102886618
|
|
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)
|
rs796052641
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)
|
rs886041860
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter)
|
rs2145735982
|
|
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)
|
rs769962713
|
|
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
|
rs374537813
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)
|
rs543547663
|
|
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224
|
|
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg)
|
rs2100267180
|
|
NM_175748.4(UBR7):c.618del (p.Glu207fs)
|
rs1894637828
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_177402.5(SYT2):c.797_801+1del
|
rs1690515734
|
|
NM_177924.5(ASAH1):c.457+4A>G
|
rs767864356
|
|
NM_177924.5(ASAH1):c.994G>C (p.Asp332His)
|
rs941670381
|
|
NM_177924.5(ASAH1):c.998G>A (p.Arg333His)
|
rs1588974098
|
|
NM_177939.3(P4HTM):c.949del (p.Val317fs)
|
rs1576608329
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|
NM_181426.2(CCDC39):c.2061dup (p.Ala688fs)
|
rs2108406611
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)
|
rs121912543
|
|
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del)
|
rs751691446
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)
|
rs772092387
|
|
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)
|
rs140676416
|
|
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)
|
rs200503488
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs)
|
rs1246610728
|
|
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
|
rs747322064
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.2727+1G>T
|
rs942550749
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)
|
rs796065306
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_198129.4(LAMA3):c.5061C>A (p.Cys1687Ter)
|
rs2144862529
|
|
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)
|
rs727502799
|
|
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)
|
rs769824247
|
|
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)
|
rs769494139
|
|
NM_198576.4(AGRN):c.667dup (p.Leu223fs)
|
rs1644909838
|
|
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
|
rs33949390
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)
|
rs373863249
|
|
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])
|
rs786205252
|
|
NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr)
|
rs782539707
|
|
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter)
|
rs886044836
|
|
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)
|
rs782213742
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)
|
rs201402970
|
|
NM_201548.5(CERKL):c.1073+3_1073+6del
|
rs1553513437
|
|
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)
|
rs1488690709
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
|
rs747891004
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)
|
rs773779627
|
|
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)
|
rs1555644694
|
|
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)
|
rs2053430432
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser)
|
rs143576067
|
|
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)
|
rs281865467
|
|
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)
|
rs142073798
|
|