|
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)
|
rs782650611
|
0.11673
|
|
NM_001142864.4(PIEZO1):c.3022G>C (p.Gly1008Arg)
|
rs368019686
|
0.04110
|
|
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_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)
|
rs752071055
|
0.01748
|
|
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_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_001142864.4(PIEZO1):c.3029G>A (p.Arg1010His)
|
rs746946494
|
0.00544
|
|
NM_016373.4(WWOX):c.-460C>T
|
rs537693227
|
0.00531
|
|
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_000263.4(NAGLU):c.765-782A>G
|
rs62075833
|
0.00485
|
|
NM_001041.4(SI):c.2923T>C (p.Tyr975His)
|
rs146785675
|
0.00477
|
|
NM_001198533.2(OXR1):c.1957-11262G>A
|
rs145739822
|
0.00437
|
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00426
|
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00393
|
|
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_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
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_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
|
NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys)
|
rs139564196
|
0.00350
|
|
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_007055.4(POLR3A):c.*813A>G
|
rs186927032
|
0.00324
|
|
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_001687.5(ATP5F1D):c.25C>T (p.Arg9Cys)
|
rs531544101
|
0.00294
|
|
NC_000019.10:g.35282425C>T
|
rs142126068
|
0.00287
|
|
NM_002526.4(NT5E):c.832G>A (p.Val278Ile)
|
rs41271617
|
0.00287
|
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00283
|
|
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)
|
rs58729661
|
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_006005.3(WFS1):c.-5-1409G>T
|
rs78937805
|
0.00271
|
|
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_000547.5(TPO):c.-917T>C
|
rs191174198
|
0.00260
|
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
|
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_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00240
|
|
NM_001321739.2(M1AP):c.676dup (p.Trp226fs)
|
rs144217347
|
0.00238
|
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
|
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_080473.5(GATA5):c.232G>A (p.Gly78Ser)
|
rs572247741
|
0.00227
|
|
NM_003730.6(RNASET2):c.-392G>C
|
rs536539036
|
0.00224
|
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00222
|
|
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_020708.5(SLC12A5):c.855-66G>A
|
rs191589333
|
0.00214
|
|
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_198075.4(LRRC56):c.1291T>A (p.Ser431Thr)
|
rs149919024
|
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_001089.3(ABCA3):c.1467+1740T>C
|
rs552204965
|
0.00201
|
|
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_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
|
NM_001330691.3(CEP78):c.1846-1G>C
|
rs146563928
|
0.00193
|
|
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_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00192
|
|
NM_001372.4(DNAH9):c.250C>T (p.Arg84Cys)
|
rs375775619
|
0.00191
|
|
NM_001171038.2(ASMT):c.562+2T>C
|
rs148855515
|
0.00189
|
|
NM_003801.4(GPAA1):c.1622+3A>G
|
rs146686863
|
0.00186
|
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00186
|
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
|
NM_020751.3(COG6):c.320A>T (p.Asp107Val)
|
rs146229425
|
0.00183
|
|
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp)
|
rs139071351
|
0.00180
|
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
|
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg)
|
rs138580420
|
0.00179
|
|
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_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00176
|
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00176
|
|
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_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00170
|
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
0.00169
|
|
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)
|
rs142438011
|
0.00168
|
|
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_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
|
NM_016516.3(VPS54):c.1057A>G (p.Met353Val)
|
rs139082064
|
0.00164
|
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
|
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_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser)
|
rs201940970
|
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_014270.5(SLC7A9):c.526G>A (p.Val176Ile)
|
rs138744722
|
0.00160
|
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00159
|
|
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_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
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_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
|
rs141383988
|
0.00152
|
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
|
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_024928.5(STN1):c.793A>C (p.Ser265Arg)
|
rs74157365
|
0.00150
|
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
|
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_001041.4(SI):c.4951G>A (p.Val1651Ile)
|
rs139876383
|
0.00146
|
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
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_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00140
|
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
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_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
rs151009667
|
0.00137
|
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
|
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_001005388.3(NFASC):c.2318G>A (p.Arg773Gln)
|
rs139205012
|
0.00132
|
|
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)
|
rs150727525
|
0.00131
|
|
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)
|
rs147802438
|
0.00131
|
|
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr)
|
rs201545521
|
0.00131
|
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
|
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu)
|
rs121918186
|
0.00131
|
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
|
NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn)
|
rs199777072
|
0.00130
|
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00130
|
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
|
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser)
|
rs138522639
|
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_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00126
|
|
NM_000036.3(AMPD1):c.381+1G>C
|
rs143303736
|
0.00125
|
|
NM_020884.7(MYH7B):c.1486_1487del (p.Met496fs)
|
rs571047145
|
0.00125
|
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
|
NM_007055.4(POLR3A):c.2901+274T>C
|
rs549397427
|
0.00124
|
|
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)
|
rs767318857
|
0.00124
|
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00123
|
|
NM_015261.3(NCAPD3):c.2816A>G (p.Lys939Arg)
|
rs143359995
|
0.00123
|
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
|
NM_001486.4(GCKR):c.1618C>T (p.Arg540Ter)
|
rs146053779
|
0.00122
|
|
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_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)
|
rs139487685
|
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_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
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_004667.6(HERC2):c.1012T>G (p.Leu338Val)
|
rs61754656
|
0.00119
|
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
|
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_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
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_001101648.2(NPC1L1):c.1493G>A (p.Arg498His)
|
rs79573011
|
0.00115
|
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_001365536.1(SCN9A):c.*1770A>C
|
rs200353065
|
0.00115
|
|
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)
|
rs145871645
|
0.00115
|
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00114
|
|
NM_001112.4(ADARB1):c.1397-354A>G
|
rs544025652
|
0.00113
|
|
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00113
|
|
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln)
|
rs181222936
|
0.00113
|
|
NM_012398.3(PIP5K1C):c.991C>T (p.Arg331Cys)
|
rs146890276
|
0.00113
|
|
NM_019077.3(UGT1A7):c.243C>A (p.Tyr81Ter)
|
rs149618508
|
0.00113
|
|
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)
|
rs36222275
|
0.00113
|
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00112
|
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
|
NM_000163.5(GHR):c.239G>T (p.Gly80Val)
|
rs114025919
|
0.00111
|
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
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_052854.4(CREB3L1):c.284C>T (p.Ala95Val)
|
rs190038304
|
0.00110
|
|
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_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_033238.3(PML):c.919C>T (p.Arg307Cys)
|
rs140050477
|
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_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00107
|
|
NM_207037.2(TCF12):c.1465A>G (p.Met489Val)
|
rs149621019
|
0.00107
|
|
NM_001242882.2(NAXD):c.521C>T (p.Pro174Leu)
|
rs137876156
|
0.00106
|
|
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu)
|
rs61729285
|
0.00106
|
|
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
|
rs142089943
|
0.00106
|
|
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
|
rs145481393
|
0.00106
|
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
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_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_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)
|
rs201036334
|
0.00103
|
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00102
|
|
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)
|
rs147760280
|
0.00102
|
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
|
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_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)
|
rs149165620
|
0.00101
|
|
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)
|
rs144829001
|
0.00101
|
|
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)
|
rs138510884
|
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_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00101
|
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
|
NM_004793.4(LONP1):c.1817C>T (p.Ala606Val)
|
rs145519500
|
0.00100
|
|
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_032608.7(MYO18B):c.445A>G (p.Arg149Gly)
|
rs116601609
|
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_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00099
|
|
NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val)
|
rs150652745
|
0.00099
|
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
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_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00097
|
|
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_001267550.2(TTN):c.18938G>C (p.Ser6313Thr)
|
rs200120672
|
0.00096
|
|
NM_005993.5(TBCD):c.1057G>A (p.Asp353Asn)
|
rs189185507
|
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_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
|
NM_022662.4(ANAPC1):c.1452A>T (p.Lys484Asn)
|
rs146218010
|
0.00096
|
|
NM_173689.7(CRB2):c.737G>A (p.Arg246His)
|
rs150339335
|
0.00096
|
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
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_000411.8(HLCS):c.-393+2558C>T
|
rs545275021
|
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_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
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_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
|
NM_032409.3(PINK1):c.952A>T (p.Met318Leu)
|
rs139226733
|
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_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr)
|
rs142934543
|
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_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile)
|
rs138971379
|
0.00091
|
|
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)
|
rs142920070
|
0.00091
|
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
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_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)
|
rs138586345
|
0.00090
|
|
NM_032409.3(PINK1):c.776+2032G>A
|
rs374789083
|
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_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_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00088
|
|
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_018076.5(ODAD2):c.1709G>A (p.Arg570Gln)
|
rs140569195
|
0.00088
|
|
NM_025207.5(FLAD1):c.683G>A (p.Arg228His)
|
rs144986636
|
0.00088
|
|
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)
|
rs112433432
|
0.00088
|
|
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr)
|
rs201523118
|
0.00088
|
|
NM_000426.4(LAMA2):c.6708-3A>C
|
rs112637707
|
0.00087
|
|
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)
|
rs145007061
|
0.00087
|
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00086
|
|
NM_003235.5(TG):c.3983G>A (p.Arg1328His)
|
rs141146573
|
0.00086
|
|
NM_004174.4(SLC9A3):c.579G>A (p.Pro193=)
|
rs542245214
|
0.00086
|
|
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)
|
rs145209035
|
0.00086
|
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
|
NM_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_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)
|
rs151184272
|
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_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00084
|
|
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn)
|
rs189910531
|
0.00084
|
|
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met)
|
rs138880727
|
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_213599.3(ANO5):c.2521-613C>T
|
rs577349574
|
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_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_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00083
|
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00082
|
|
NM_001136191.3(KANK2):c.2543C>T (p.Ser848Leu)
|
rs146639208
|
0.00082
|
|
NM_004744.5(LRAT):c.611C>T (p.Ala204Val)
|
rs144754979
|
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_000395.3(CSF2RB):c.1943C>T (p.Pro648Leu)
|
rs200724880
|
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_012188.5(FOXI1):c.1018C>G (p.Pro340Ala)
|
rs141924917
|
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_001330701.2(AGTPBP1):c.3206G>T (p.Cys1069Phe)
|
rs148724007
|
0.00080
|
|
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln)
|
rs142127656
|
0.00080
|
|
NM_032237.5(POMK):c.20A>G (p.Asn7Ser)
|
rs143957574
|
0.00080
|
|
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)
|
rs200367429
|
0.00080
|
|
NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)
|
rs148703569
|
0.00080
|
|
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr)
|
rs149292107
|
0.00079
|
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00079
|
|
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser)
|
rs137904249
|
0.00079
|
|
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)
|
rs149859034
|
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_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00078
|
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
|
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)
|
rs141339355
|
0.00078
|
|
NM_152328.5(ADSS1):c.372G>C (p.Trp124Cys)
|
rs141465951
|
0.00078
|
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
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_012188.5(FOXI1):c.442C>G (p.Gln148Glu)
|
rs553561553
|
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_000201.3(ICAM1):c.571G>C (p.Asp191His)
|
rs139053442
|
0.00076
|
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00076
|
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
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_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
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_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_032801.5(JAM3):c.876C>G (p.Asn292Lys)
|
rs146383325
|
0.00076
|
|
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln)
|
rs140708018
|
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_000355.4(TCN2):c.1237A>G (p.Arg413Gly)
|
rs148963479
|
0.00075
|
|
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)
|
rs61745147
|
0.00075
|
|
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)
|
rs148081697
|
0.00075
|
|
NM_004006.3(DMD):c.4675-286A>G
|
rs769717679
|
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_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
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_003850.3(SUCLA2):c.617A>G (p.Glu206Gly)
|
rs141647723
|
0.00074
|
|
NM_007117.5(TRH):c.676C>T (p.Arg226Trp)
|
rs140702654
|
0.00074
|
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00074
|
|
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)
|
rs186811333
|
0.00074
|
|
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser)
|
rs150483675
|
0.00074
|
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
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_173660.5(DOK7):c.1171G>A (p.Gly391Arg)
|
rs144158112
|
0.00073
|
|
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)
|
rs868906137
|
0.00073
|
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00072
|
|
NM_004006.3(DMD):c.4234-979G>A
|
rs752663985
|
0.00072
|
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
|
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)
|
rs148810173
|
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_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys)
|
rs199875504
|
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_006734.4(HIVEP2):c.7069C>T (p.Pro2357Ser)
|
rs199935129
|
0.00071
|
|
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)
|
rs146773641
|
0.00071
|
|
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)
|
rs762283381
|
0.00071
|
|
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)
|
rs55853041
|
0.00071
|
|
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)
|
rs150645738
|
0.00070
|
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
|
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)
|
rs144358858
|
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_006371.5(CRTAP):c.451C>G (p.Leu151Val)
|
rs202118861
|
0.00070
|
|
NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)
|
rs150856064
|
0.00070
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00070
|
|
NM_032409.3(PINK1):c.776+2110G>A
|
rs371707958
|
0.00070
|
|
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)
|
rs142169651
|
0.00070
|
|
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00069
|
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00069
|
|
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)
|
rs148745414
|
0.00069
|
|
NM_004793.4(LONP1):c.1985T>G (p.Val662Gly)
|
rs144822855
|
0.00069
|
|
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val)
|
rs143946953
|
0.00069
|
|
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr)
|
rs140016209
|
0.00069
|
|
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)
|
rs142934882
|
0.00068
|
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00068
|
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00068
|
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00068
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
rs140562402
|
0.00068
|
|
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met)
|
rs202011820
|
0.00068
|
|
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln)
|
rs35102652
|
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_198565.3(NRROS):c.179G>A (p.Arg60Gln)
|
rs140967612
|
0.00068
|
|
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)
|
rs140658201
|
0.00067
|
|
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=)
|
rs141101234
|
0.00067
|
|
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)
|
rs141340479
|
0.00067
|
|
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)
|
rs185207099
|
0.00067
|
|
NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu)
|
rs115526553
|
0.00067
|
|
NM_015057.5(MYCBP2):c.6680A>G (p.Asn2227Ser)
|
rs150267633
|
0.00067
|
|
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)
|
rs148105529
|
0.00067
|
|
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys)
|
rs201039834
|
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_181882.3(PRX):c.3145G>A (p.Gly1049Ser)
|
rs186086914
|
0.00067
|
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00066
|
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00066
|
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
|
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val)
|
rs530780611
|
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_024105.4(ALG12):c.319G>A (p.Val107Met)
|
rs147784926
|
0.00066
|
|
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)
|
rs375568532
|
0.00066
|
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
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_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
|
NM_021267.5(CERS1):c.787G>A (p.Val263Ile)
|
rs200539084
|
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_003907.3(EIF2B5):c.1167G>A (p.Val389=)
|
rs112278360
|
0.00064
|
|
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile)
|
rs140563222
|
0.00064
|
|
NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)
|
rs138379386
|
0.00064
|
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00064
|
|
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro)
|
rs139236922
|
0.00064
|
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
|
NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)
|
rs138435590
|
0.00064
|
|
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)
|
rs114900922
|
0.00063
|
|
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728
|
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_001375.3(DNASE2):c.995C>A (p.Ala332Asp)
|
rs138534991
|
0.00063
|
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
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_017414.4(USP18):c.907G>A (p.Glu303Lys)
|
rs200388263
|
0.00063
|
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00063
|
|
NM_198565.3(NRROS):c.70G>A (p.Gly24Arg)
|
rs151257083
|
0.00063
|
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
|
NM_000213.5(ITGB4):c.3112-3C>T
|
rs151033645
|
0.00062
|
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
|
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser)
|
rs376505442
|
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_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00062
|
|
NM_001355436.2(SPTB):c.6396_6398dup (p.Gly2133_Gln2134insGly)
|
rs145280081
|
0.00062
|
|
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)
|
rs187453572
|
0.00062
|
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
|
NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp)
|
rs111933069
|
0.00062
|
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00062
|
|
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)
|
rs139771078
|
0.00062
|
|
NM_005529.7(HSPG2):c.2038G>A (p.Ala680Thr)
|
rs112756708
|
0.00062
|
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
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_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)
|
rs149165006
|
0.00061
|
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
|
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)
|
rs151335249
|
0.00061
|
|
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
|
NM_005883.3(APC2):c.4557G>A (p.Pro1519=)
|
rs111280997
|
0.00061
|
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
|
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)
|
rs143341678
|
0.00061
|
|
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)
|
rs111554140
|
0.00061
|
|
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_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
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_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser)
|
rs184213204
|
0.00060
|
|
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)
|
rs150721350
|
0.00060
|
|
NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp)
|
rs146179360
|
0.00060
|
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00060
|
|
NM_015512.5(DNAH1):c.1610G>A (p.Ser537Asn)
|
rs201302159
|
0.00060
|
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00060
|
|
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)
|
rs376509451
|
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.2402C>T (p.Ala801Val)
|
rs147139414
|
0.00059
|
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
|
NM_001206927.2(DNAH8):c.8869C>T (p.Arg2957Cys)
|
rs143707632
|
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_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)
|
rs139398367
|
0.00059
|
|
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)
|
rs139770726
|
0.00059
|
|
NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu)
|
rs201177082
|
0.00059
|
|
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_000540.3(RYR1):c.13022C>T (p.Thr4341Met)
|
rs752855919
|
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_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
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_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00058
|
|
NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu)
|
rs201360247
|
0.00058
|
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
|
NM_012464.5(TLL1):c.2783G>A (p.Arg928Gln)
|
rs116616112
|
0.00058
|
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
|
NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr)
|
rs144744401
|
0.00058
|
|
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)
|
rs140564189
|
0.00057
|
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
|
NM_001003931.4(PARP3):c.1018C>T (p.Gln340Ter)
|
rs199581414
|
0.00057
|
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
|
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)
|
rs141660796
|
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_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
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_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00057
|
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00057
|
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00057
|
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00057
|
|
NM_201384.3(PLEC):c.10565C>T (p.Thr3522Met)
|
rs375095764
|
0.00057
|
|
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)
|
rs149481974
|
0.00056
|
|
NM_001164508.2(NEB):c.902G>A (p.Arg301Lys)
|
rs185441677
|
0.00056
|
|
NM_001199198.3(TBC1D23):c.53+100G>A
|
rs566422676
|
0.00056
|
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
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_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu)
|
rs61735621
|
0.00056
|
|
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)
|
rs200126714
|
0.00056
|
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
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_024753.5(TTC21B):c.3932G>A (p.Arg1311His)
|
rs139327086
|
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_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
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_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
|
NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)
|
rs199882635
|
0.00055
|
|
NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro)
|
rs200760629
|
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_020821.3(VPS13C):c.10863+1553C>T
|
rs145623297
|
0.00055
|
|
NM_024537.4(CARS2):c.244G>A (p.Val82Ile)
|
rs117788141
|
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_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00054
|
|
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)
|
rs144612641
|
0.00054
|
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00054
|
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
|
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00054
|
|
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)
|
rs143053635
|
0.00054
|
|
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys)
|
rs755875238
|
0.00054
|
|
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)
|
rs186244044
|
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_012179.4(FBXO7):c.1453G>A (p.Val485Ile)
|
rs141286570
|
0.00054
|
|
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)
|
rs139690983
|
0.00054
|
|
NM_018139.3(DNAAF2):c.982G>A (p.Asp328Asn)
|
rs201566715
|
0.00054
|
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00054
|
|
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg)
|
rs189849720
|
0.00054
|
|
NM_031307.4(PUS3):c.476G>A (p.Arg159His)
|
rs113575767
|
0.00054
|
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00054
|
|
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln)
|
rs200339732
|
0.00054
|
|
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn)
|
rs200540800
|
0.00054
|
|
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp)
|
rs201569045
|
0.00054
|
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00054
|
|
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile)
|
rs115092288
|
0.00053
|
|
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_000540.3(RYR1):c.11321C>T (p.Ala3774Val)
|
rs146361173
|
0.00053
|
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
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_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
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_001277062.2(MFF):c.403G>A (p.Val135Ile)
|
rs145143758
|
0.00053
|
|
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)
|
rs199834369
|
0.00053
|
|
NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys)
|
rs181699780
|
0.00053
|
|
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)
|
rs143631346
|
0.00053
|
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
|
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met)
|
rs147860819
|
0.00053
|
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00053
|
|
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp)
|
rs138206136
|
0.00053
|
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
|
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
|
rs139244736
|
0.00052
|
|
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)
|
rs147185142
|
0.00052
|
|
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser)
|
rs148533702
|
0.00052
|
|
NM_000875.5(IGF1R):c.1247+3A>G
|
rs55895813
|
0.00052
|
|
NM_001102608.3(COL6A6):c.3883C>T (p.Arg1295Ter)
|
rs200960657
|
0.00052
|
|
NM_001162501.2(TNRC6B):c.1268G>T (p.Gly423Val)
|
rs201057205
|
0.00052
|
|
NM_001302769.2(PARD3B):c.1222G>A (p.Gly408Ser)
|
rs201211082
|
0.00052
|
|
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)
|
rs147013623
|
0.00052
|
|
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met)
|
rs200057861
|
0.00052
|
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
|
NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr)
|
rs186098891
|
0.00052
|
|
NM_017534.6(MYH2):c.5472+3G>T
|
rs200691436
|
0.00052
|
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00052
|
|
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)
|
rs201020526
|
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_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
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_001849.4(COL6A2):c.2575G>A (p.Val859Met)
|
rs370446082
|
0.00051
|
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00051
|
|
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)
|
rs140196819
|
0.00051
|
|
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp)
|
rs553885469
|
0.00051
|
|
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln)
|
rs140573963
|
0.00051
|
|
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)
|
rs368075745
|
0.00051
|
|
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)
|
rs200992827
|
0.00051
|
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
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_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
|
NM_201384.3(PLEC):c.10462G>A (p.Ala3488Thr)
|
rs201390770
|
0.00051
|
|
NM_201384.3(PLEC):c.8763G>A (p.Thr2921=)
|
rs377001239
|
0.00051
|
|
NM_000231.3(SGCG):c.*53C>A
|
rs188804783
|
0.00050
|
|
NM_000426.4(LAMA2):c.6506A>G (p.Asn2169Ser)
|
rs144845618
|
0.00050
|
|
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_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00050
|
|
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
|
rs146073770
|
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_006245.4(PPP2R5D):c.1558C>T (p.Pro520Ser)
|
rs139183911
|
0.00050
|
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00050
|
|
NM_138615.3(DHX30):c.1666G>A (p.Val556Ile)
|
rs36045705
|
0.00050
|
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00050
|
|
NM_145207.3(AFG2A):c.288+47T>C
|
rs375016383
|
0.00050
|
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
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_001142800.2(EYS):c.7034G>A (p.Arg2345His)
|
rs201304559
|
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_001164508.2(NEB):c.14767G>A (p.Val4923Met)
|
rs371004065
|
0.00049
|
|
NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn)
|
rs142981913
|
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_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)
|
rs376795880
|
0.00049
|
|
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr)
|
rs756778483
|
0.00049
|
|
NM_001372.4(DNAH9):c.3593G>C (p.Trp1198Ser)
|
rs141958775
|
0.00049
|
|
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510
|
0.00049
|
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
|
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)
|
rs142912356
|
0.00049
|
|
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
|
rs188840021
|
0.00049
|
|
NM_005883.3(APC2):c.3035G>A (p.Gly1012Asp)
|
rs200917515
|
0.00049
|
|
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
|
rs143881845
|
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_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
|
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)
|
rs373958891
|
0.00049
|
|
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)
|
rs138172448
|
0.00048
|
|
NM_000324.3(RHAG):c.1147C>A (p.Leu383Ile)
|
rs141051794
|
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_001042681.2(RERE):c.697G>A (p.Val233Ile)
|
rs147116390
|
0.00048
|
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00048
|
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00048
|
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00048
|
|
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)
|
rs202099525
|
0.00048
|
|
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)
|
rs373587647
|
0.00048
|
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
|
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)
|
rs72657342
|
0.00048
|
|
NM_001278716.2(FBXL4):c.1317+137T>C
|
rs191331004
|
0.00048
|
|
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr)
|
rs140609636
|
0.00048
|
|
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)
|
rs147588579
|
0.00048
|
|
NM_003235.5(TG):c.1802C>T (p.Thr601Met)
|
rs139516987
|
0.00048
|
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00048
|
|
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)
|
rs200029869
|
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_017534.6(MYH2):c.5003G>A (p.Arg1668Gln)
|
rs143022667
|
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_018131.5(CEP55):c.379G>A (p.Val127Ile)
|
rs199894468
|
0.00048
|
|
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu)
|
rs551989827
|
0.00048
|
|
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)
|
rs137935194
|
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_138477.4(CDAN1):c.3188C>T (p.Thr1063Met)
|
rs143857276
|
0.00048
|
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00048
|
|
NM_000593.6(TAP1):c.1783C>G (p.Leu595Val)
|
rs145691938
|
0.00047
|
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
|
NM_001040167.2(LFNG):c.482-3C>T
|
rs199745512
|
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_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00047
|
|
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr)
|
rs146638016
|
0.00047
|
|
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)
|
rs142678284
|
0.00047
|
|
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His)
|
rs34236392
|
0.00047
|
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
|
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met)
|
rs143523507
|
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_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)
|
rs150401285
|
0.00047
|
|
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)
|
rs142125966
|
0.00047
|
|
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
|
rs112741962
|
0.00047
|
|
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
|
rs141931755
|
0.00047
|
|
NM_207361.6(FREM2):c.8918A>G (p.Lys2973Arg)
|
rs147506207
|
0.00047
|
|
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)
|
rs138936105
|
0.00046
|
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
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_001942.4(DSG1):c.2608G>A (p.Gly870Ser)
|
rs139922779
|
0.00046
|
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00046
|
|
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
|
rs147044263
|
0.00046
|
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00046
|
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
|
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)
|
rs768517440
|
0.00046
|
|
NM_017986.4(SLC52A1):c.923A>G (p.Tyr308Cys)
|
rs141719111
|
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_032581.4(HYCC1):c.1480G>A (p.Val494Ile)
|
rs151228394
|
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.2063C>T (p.Pro688Leu)
|
rs377358791
|
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_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
|
NM_001004127.2(ALG11):c.-23C>T
|
rs201534348
|
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_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
|
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)
|
rs369153778
|
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.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
|
NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)
|
rs201165264
|
0.00045
|
|
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)
|
rs142631483
|
0.00045
|
|
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)
|
rs200724087
|
0.00045
|
|
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)
|
rs150497723
|
0.00045
|
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00044
|
|
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly)
|
rs56089364
|
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_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln)
|
rs138920330
|
0.00044
|
|
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
|
rs202194507
|
0.00044
|
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
|
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)
|
rs765789028
|
0.00044
|
|
NM_001164508.2(NEB):c.23557-3C>G
|
rs374499643
|
0.00044
|
|
NM_001277115.2(DNAH11):c.4734G>C (p.Met1578Ile)
|
rs202009583
|
0.00044
|
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
|
NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu)
|
rs143749139
|
0.00044
|
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00044
|
|
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln)
|
rs149009015
|
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_173596.3(SLC39A5):c.964C>T (p.Arg322Ter)
|
rs148112570
|
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_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
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.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_002591.4(PCK1):c.64A>G (p.Ser22Gly)
|
rs140235265
|
0.00043
|
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00043
|
|
NM_003690.5(PRKRA):c.514+2T>A
|
rs201254634
|
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_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)
|
rs145091234
|
0.00043
|
|
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)
|
rs375762569
|
0.00043
|
|
NM_015599.3(PGM3):c.389+3G>A
|
rs201392846
|
0.00043
|
|
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His)
|
rs142934668
|
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_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00043
|
|
NM_201384.3(PLEC):c.1545C>T (p.Pro515=)
|
rs199968254
|
0.00043
|
|
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu)
|
rs138705920
|
0.00042
|
|
NM_000081.4(LYST):c.6682G>C (p.Asp2228His)
|
rs150270086
|
0.00042
|
|
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_000334.4(SCN4A):c.5424G>A (p.Met1808Ile)
|
rs201375413
|
0.00042
|
|
NM_000387.6(SLC25A20):c.226G>C (p.Ala76Pro)
|
rs150516570
|
0.00042
|
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
|
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val)
|
rs143974871
|
0.00042
|
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
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_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)
|
rs201037895
|
0.00042
|
|
NM_001371986.1(UNC80):c.6024C>T (p.Thr2008=)
|
rs374791576
|
0.00042
|
|
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His)
|
rs372173405
|
0.00042
|
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00042
|
|
NM_003235.5(TG):c.2977G>A (p.Ala993Thr)
|
rs142998186
|
0.00042
|
|
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)
|
rs199702595
|
0.00042
|
|
NM_005051.3(QARS1):c.117+5G>A
|
rs151099269
|
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_018129.4(PNPO):c.698G>A (p.Arg233Gln)
|
rs144390543
|
0.00042
|
|
NM_020738.4(KIDINS220):c.361G>C (p.Glu121Gln)
|
rs181372484
|
0.00042
|
|
NM_020812.4(DOCK6):c.5216A>T (p.His1739Leu)
|
rs200792145
|
0.00042
|
|
NM_022437.3(ABCG8):c.1225A>G (p.Asn409Asp)
|
rs140373311
|
0.00042
|
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00041
|
|
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
|
rs141764855
|
0.00041
|
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
|
NM_000747.3(CHRNB1):c.229G>A (p.Val77Met)
|
rs140556296
|
0.00041
|
|
NM_001036.6(RYR3):c.6835G>A (p.Val2279Met)
|
rs41279210
|
0.00041
|
|
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)
|
rs201674874
|
0.00041
|
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00041
|
|
NM_002029.4(FPR1):c.440T>C (p.Ile147Thr)
|
rs142367736
|
0.00041
|
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
|
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)
|
rs201514157
|
0.00041
|
|
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr)
|
rs149282970
|
0.00041
|
|
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)
|
rs145560772
|
0.00041
|
|
NM_005529.7(HSPG2):c.12607G>A (p.Gly4203Arg)
|
rs199814977
|
0.00041
|
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00041
|
|
NM_005993.5(TBCD):c.3447C>T (p.Asp1149=)
|
rs183455339
|
0.00041
|
|
NM_006302.3(MOGS):c.2123G>A (p.Arg708His)
|
rs181059661
|
0.00041
|
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
|
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr)
|
rs76700503
|
0.00041
|
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
|
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys)
|
rs150227073
|
0.00041
|
|
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)
|
rs1131691530
|
0.00041
|
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
|
NM_178857.6(RP1L1):c.5284G>A (p.Glu1762Lys)
|
rs141128719
|
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_213599.3(ANO5):c.1563G>T (p.Leu521Phe)
|
rs190937193
|
0.00041
|
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00040
|
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00040
|
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
|
NM_000379.4(XDH):c.670C>T (p.Arg224Trp)
|
rs147533056
|
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_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00040
|
|
NM_001142864.4(PIEZO1):c.1107+1G>C
|
rs199524784
|
0.00040
|
|
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn)
|
rs200729207
|
0.00040
|
|
NM_001164508.2(NEB):c.9820G>A (p.Val3274Ile)
|
rs201288341
|
0.00040
|
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
|
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
|
rs142541718
|
0.00040
|
|
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)
|
rs144681826
|
0.00040
|
|
NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)
|
rs201220075
|
0.00040
|
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00040
|
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00040
|
|
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)
|
rs199724285
|
0.00040
|
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
|
NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr)
|
rs140568310
|
0.00040
|
|
NM_007118.4(TRIO):c.44C>T (p.Ser15Phe)
|
rs1006366530
|
0.00040
|
|
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)
|
rs147641581
|
0.00040
|
|
NM_014780.5(CUL7):c.4074A>T (p.Glu1358Asp)
|
rs146346558
|
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_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
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_052859.4(RFT1):c.1331C>T (p.Thr444Met)
|
rs147740901
|
0.00040
|
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
|
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)
|
rs147287319
|
0.00040
|
|
NM_000287.4(PEX6):c.1335C>G (p.Leu445=)
|
rs142958800
|
0.00039
|
|
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)
|
rs146416679
|
0.00039
|
|
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)
|
rs57307513
|
0.00039
|
|
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu)
|
rs754173025
|
0.00039
|
|
NM_001163809.2(WDR81):c.3394G>A (p.Val1132Met)
|
rs199835827
|
0.00039
|
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
|
NM_001805.4(CEBPE):c.205C>T (p.Leu69Phe)
|
rs146580935
|
0.00039
|
|
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)
|
rs201634881
|
0.00039
|
|
NM_003235.5(TG):c.4589G>A (p.Arg1530Gln)
|
rs139187590
|
0.00039
|
|
NM_005529.7(HSPG2):c.9235G>A (p.Val3079Met)
|
rs187525491
|
0.00039
|
|
NM_005559.4(LAMA1):c.3687+4A>C
|
rs7226848
|
0.00039
|
|
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)
|
rs145881639
|
0.00039
|
|
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)
|
rs149282954
|
0.00039
|
|
NM_012062.5(DNM1L):c.1649C>A (p.Ala550Asp)
|
rs143236486
|
0.00039
|
|
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)
|
rs201877419
|
0.00039
|
|
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)
|
rs139736291
|
0.00039
|
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00039
|
|
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
|
rs144990171
|
0.00039
|
|
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met)
|
rs117535913
|
0.00039
|
|
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile)
|
rs151156420
|
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_000098.3(CPT2):c.1477G>A (p.Ala493Thr)
|
rs61731996
|
0.00038
|
|
NM_000526.5(KRT14):c.740C>A (p.Ala247Asp)
|
rs147611635
|
0.00038
|
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
|
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr)
|
rs200122209
|
0.00038
|
|
NM_001005273.3(CHD3):c.5027-3C>T
|
rs200434912
|
0.00038
|
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
|
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)
|
rs201419564
|
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_003126.4(SPTA1):c.2182A>G (p.Lys728Glu)
|
rs200438116
|
0.00038
|
|
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)
|
rs140491601
|
0.00038
|
|
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu)
|
rs140049357
|
0.00038
|
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
|
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser)
|
rs777215134
|
0.00038
|
|
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
|
rs201413387
|
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_018082.6(POLR3B):c.1856+3A>C
|
rs184732347
|
0.00038
|
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
|
NM_080473.5(GATA5):c.83C>T (p.Ala28Val)
|
rs112701160
|
0.00038
|
|
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)
|
rs200772179
|
0.00038
|
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00038
|
|
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)
|
rs139133047
|
0.00038
|
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
|
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys)
|
rs139139296
|
0.00038
|
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00038
|
|
NM_201384.3(PLEC):c.4795G>A (p.Glu1599Lys)
|
rs782412083
|
0.00038
|
|
NM_201384.3(PLEC):c.9239A>G (p.Glu3080Gly)
|
rs200069306
|
0.00038
|
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00037
|
|
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)
|
rs200026148
|
0.00037
|
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
|
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)
|
rs200559738
|
0.00037
|
|
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)
|
rs150917600
|
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_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)
|
rs144666367
|
0.00037
|
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
|
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)
|
rs373862041
|
0.00037
|
|
NM_004667.6(HERC2):c.12697T>A (p.Ser4233Thr)
|
rs138063419
|
0.00037
|
|
NM_005592.4(MUSK):c.1057C>A (p.His353Asn)
|
rs201791900
|
0.00037
|
|
NM_007103.4(NDUFV1):c.283A>G (p.Thr95Ala)
|
rs147242476
|
0.00037
|
|
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys)
|
rs200040003
|
0.00037
|
|
NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys)
|
rs114489653
|
0.00037
|
|
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)
|
rs140373332
|
0.00037
|
|
NM_017662.5(TRPM6):c.4591C>T (p.Arg1531Cys)
|
rs141526694
|
0.00037
|
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00037
|
|
NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)
|
rs201267273
|
0.00037
|
|
NM_201384.3(PLEC):c.8065C>T (p.Arg2689Cys)
|
rs373228579
|
0.00037
|
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00036
|
|
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)
|
rs73312829
|
0.00036
|
|
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
|
rs139853344
|
0.00036
|
|
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
|
rs138381340
|
0.00036
|
|
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)
|
rs138880406
|
0.00036
|
|
NM_000287.4(PEX6):c.1014C>T (p.Asp338=)
|
rs140806942
|
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_000637.5(GSR):c.697C>T (p.Arg233Cys)
|
rs145851500
|
0.00036
|
|
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser)
|
rs147050939
|
0.00036
|
|
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)
|
rs529894952
|
0.00036
|
|
NM_001145715.3(KPNA7):c.1506C>A (p.Asp502Glu)
|
rs374639225
|
0.00036
|
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
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_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)
|
rs369862935
|
0.00036
|
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00036
|
|
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys)
|
rs138962514
|
0.00036
|
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
|
NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr)
|
rs201393730
|
0.00036
|
|
NM_003235.5(TG):c.3402G>C (p.Glu1134Asp)
|
rs185061531
|
0.00036
|
|
NM_004409.5(DMPK):c.161-131G>T
|
rs192671827
|
0.00036
|
|
NM_004519.4(KCNQ3):c.*6460C>T
|
rs763946605
|
0.00036
|
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
|
NM_004614.5(TK2):c.80C>T (p.Ser27Leu)
|
rs191573607
|
0.00036
|
|
NM_005211.4(CSF1R):c.-181+13283G>T
|
rs550516295
|
0.00036
|
|
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)
|
rs200506675
|
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_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
|
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln)
|
rs146229269
|
0.00036
|
|
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp)
|
rs140626076
|
0.00036
|
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00036
|
|
NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met)
|
rs200715520
|
0.00036
|
|
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val)
|
rs782278608
|
0.00036
|
|
NM_201384.3(PLEC):c.634C>T (p.Arg212Trp)
|
rs374195373
|
0.00036
|
|
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)
|
rs80356706
|
0.00035
|
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00035
|
|
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)
|
rs139190636
|
0.00035
|
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
|
NM_001247997.2(CLIP1):c.2451+1G>T
|
rs144240398
|
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_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg)
|
rs201902411
|
0.00035
|
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
|
NM_001680.5(FXYD2):c.176+3G>A
|
rs200472357
|
0.00035
|
|
NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln)
|
rs201556221
|
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_004357.5(CD151):c.241G>A (p.Ala81Thr)
|
rs141569440
|
0.00035
|
|
NM_004551.3(NDUFS3):c.381+6T>C
|
rs377579231
|
0.00035
|
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
|
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln)
|
rs200992640
|
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_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)
|
rs148619884
|
0.00035
|
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00035
|
|
NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile)
|
rs374819478
|
0.00035
|
|
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His)
|
rs143049227
|
0.00035
|
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00035
|
|
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser)
|
rs143075418
|
0.00034
|
|
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_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_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00034
|
|
NM_000426.4(LAMA2):c.2009G>A (p.Arg670His)
|
rs149305108
|
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_001077525.3(MTMR14):c.727A>G (p.Thr243Ala)
|
rs201904466
|
0.00034
|
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
|
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)
|
rs149408006
|
0.00034
|
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00034
|
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00034
|
|
NM_001199251.3(SGO1):c.1178C>G (p.Thr393Arg)
|
rs200157936
|
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_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00034
|
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
|
NM_005529.7(HSPG2):c.12083G>A (p.Arg4028Gln)
|
rs369541804
|
0.00034
|
|
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met)
|
rs150648539
|
0.00034
|
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
|
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile)
|
rs149067043
|
0.00034
|
|
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu)
|
rs142980906
|
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_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)
|
rs148239625
|
0.00034
|
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
|
NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln)
|
rs368367743
|
0.00034
|
|
NM_019032.6(ADAMTSL4):c.232C>T (p.Leu78Phe)
|
rs147688134
|
0.00034
|
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
|
NM_022725.4(FANCF):c.91G>A (p.Val31Met)
|
rs11556562
|
0.00034
|
|
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys)
|
rs199606134
|
0.00034
|
|
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)
|
rs200213603
|
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_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)
|
rs142258643
|
0.00034
|
|
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg)
|
rs142144659
|
0.00034
|
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00033
|
|
NM_000416.3(IFNGR1):c.1027G>A (p.Val343Met)
|
rs121913185
|
0.00033
|
|
NM_001174150.2(ARL13B):c.1217A>G (p.Tyr406Cys)
|
rs149679906
|
0.00033
|
|
NM_001355436.2(SPTB):c.4595C>T (p.Pro1532Leu)
|
rs200639803
|
0.00033
|
|
NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu)
|
rs149778841
|
0.00033
|
|
NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)
|
rs138784666
|
0.00033
|
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00033
|
|
NM_001378457.1(DMXL2):c.1339G>A (p.Asp447Asn)
|
rs149014761
|
0.00033
|
|
NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala)
|
rs537950420
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys)
|
rs200648256
|
0.00033
|
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00033
|
|
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)
|
rs201988277
|
0.00033
|
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00033
|
|
NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)
|
rs144733764
|
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_000110.4(DPYD):c.1615G>A (p.Gly539Arg)
|
rs142619737
|
0.00032
|
|
NM_000747.3(CHRNB1):c.1126T>C (p.Cys376Arg)
|
rs150290595
|
0.00032
|
|
NM_001077415.3(CRELD1):c.959del (p.Gln320fs)
|
rs759473511
|
0.00032
|
|
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His)
|
rs368915047
|
0.00032
|
|
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)
|
rs189541265
|
0.00032
|
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00032
|
|
NM_001164508.2(NEB):c.9723+232G>C
|
rs1054212799
|
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.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_001355436.2(SPTB):c.610G>A (p.Asp204Asn)
|
rs144388267
|
0.00032
|
|
NM_001498.4(GCLC):c.1531G>A (p.Ala511Thr)
|
rs138610033
|
0.00032
|
|
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)
|
rs183994910
|
0.00032
|
|
NM_001849.4(COL6A2):c.*4C>T
|
rs370155138
|
0.00032
|
|
NM_002206.3(ITGA7):c.1765A>C (p.Ile589Leu)
|
rs200065922
|
0.00032
|
|
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)
|
rs140968382
|
0.00032
|
|
NM_002532.6(NUP88):c.585C>T (p.Asn195=)
|
rs142150943
|
0.00032
|
|
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)
|
rs372075053
|
0.00032
|
|
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp)
|
rs114211101
|
0.00032
|
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00032
|
|
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met)
|
rs141464124
|
0.00032
|
|
NM_005529.7(HSPG2):c.965C>T (p.Pro322Leu)
|
rs115267963
|
0.00032
|
|
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr)
|
rs137986928
|
0.00032
|
|
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)
|
rs145055342
|
0.00032
|
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
|
NM_018967.5(SNTG1):c.422G>C (p.Arg141Thr)
|
rs141816678
|
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_025074.7(FRAS1):c.3957A>G (p.Gln1319=)
|
rs376270109
|
0.00032
|
|
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
|
rs185213208
|
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_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00032
|
|
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)
|
rs148242740
|
0.00032
|
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
|
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln)
|
rs113542442
|
0.00032
|
|
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)
|
rs398123401
|
0.00032
|
|
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)
|
rs150710061
|
0.00031
|
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00031
|
|
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
|
rs139262486
|
0.00031
|
|
NM_000231.3(SGCG):c.8G>A (p.Arg3His)
|
rs35105771
|
0.00031
|
|
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys)
|
rs202135467
|
0.00031
|
|
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)
|
rs138325444
|
0.00031
|
|
NM_000751.3(CHRND):c.44C>T (p.Ala15Val)
|
rs142531974
|
0.00031
|
|
NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)
|
rs143266633
|
0.00031
|
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
|
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr)
|
rs563131364
|
0.00031
|
|
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly)
|
rs201690244
|
0.00031
|
|
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys)
|
rs182793773
|
0.00031
|
|
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala)
|
rs748155949
|
0.00031
|
|
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)
|
rs146422285
|
0.00031
|
|
NM_001164508.2(NEB):c.22548G>C (p.Gln7516His)
|
rs200776925
|
0.00031
|
|
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro)
|
rs372800812
|
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.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
|
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala)
|
rs138500086
|
0.00031
|
|
NM_001290043.2(TAP2):c.701T>A (p.Leu234Gln)
|
rs138708621
|
0.00031
|
|
NM_001372.4(DNAH9):c.6283G>A (p.Gly2095Arg)
|
rs61744677
|
0.00031
|
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
|
NM_001606.5(ABCA2):c.1099G>A (p.Ala367Thr)
|
rs367552369
|
0.00031
|
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
|
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)
|
rs139399166
|
0.00031
|
|
NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)
|
rs150994660
|
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_003200.5(TCF3):c.878T>C (p.Phe293Ser)
|
rs141542090
|
0.00031
|
|
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)
|
rs150907052
|
0.00031
|
|
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)
|
rs115595706
|
0.00031
|
|
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys)
|
rs138847501
|
0.00031
|
|
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys)
|
rs144511257
|
0.00031
|
|
NM_005529.7(HSPG2):c.6289G>A (p.Val2097Met)
|
rs143419262
|
0.00031
|
|
NM_005529.7(HSPG2):c.8254G>A (p.Gly2752Arg)
|
rs143734280
|
0.00031
|
|
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)
|
rs145602077
|
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_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
|
NM_173660.5(DOK7):c.975G>A (p.Arg325=)
|
rs370661591
|
0.00031
|
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
|
NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser)
|
rs202010719
|
0.00031
|
|
NM_201384.3(PLEC):c.4648C>T (p.Arg1550Trp)
|
rs560918806
|
0.00031
|
|
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)
|
rs201916690
|
0.00031
|
|
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser)
|
rs375221757
|
0.00030
|
|
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)
|
rs201861334
|
0.00030
|
|
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)
|
rs142902005
|
0.00030
|
|
NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu)
|
rs200183031
|
0.00030
|
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
|
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser)
|
rs199651516
|
0.00030
|
|
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)
|
rs201265160
|
0.00030
|
|
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu)
|
rs200671975
|
0.00030
|
|
NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile)
|
rs112596218
|
0.00030
|
|
NM_001080483.3(MYMK):c.8C>T (p.Thr3Met)
|
rs140742530
|
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_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00030
|
|
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met)
|
rs141973081
|
0.00030
|
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00030
|
|
NM_002900.3(RBP3):c.1569C>G (p.His523Gln)
|
rs148093336
|
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_005886.3(KATNB1):c.1558G>A (p.Asp520Asn)
|
rs145389285
|
0.00030
|
|
NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys)
|
rs145092859
|
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_016642.4(SPTBN5):c.10896G>A (p.Trp3632Ter)
|
rs200614333
|
0.00030
|
|
NM_018993.4(RIN2):c.797A>T (p.Asn266Ile)
|
rs201551000
|
0.00030
|
|
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
|
rs768475346
|
0.00030
|
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
|
NM_057175.5(NAA15):c.2591A>G (p.Asn864Ser)
|
rs201822171
|
0.00030
|
|
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)
|
rs199785411
|
0.00030
|
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
|
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile)
|
rs141049001
|
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_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
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_000130.5(F5):c.1181T>C (p.Val394Ala)
|
rs142875000
|
0.00029
|
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
|
NM_000153.4(GALC):c.49A>G (p.Met17Val)
|
rs376662045
|
0.00029
|
|
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys)
|
rs144743676
|
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_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)
|
rs75478217
|
0.00029
|
|
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln)
|
rs138816005
|
0.00029
|
|
NM_000476.3(AK1):c.530G>A (p.Gly177Asp)
|
rs201453879
|
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_000718.4(CACNA1B):c.4373A>C (p.Gln1458Pro)
|
rs200021661
|
0.00029
|
|
NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu)
|
rs76022493
|
0.00029
|
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
|
NM_001001548.3(CD36):c.855del (p.Gly287fs)
|
rs558115067
|
0.00029
|
|
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)
|
rs140787739
|
0.00029
|
|
NM_001089.3(ABCA3):c.-539+1575G>A
|
rs558730796
|
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_001199563.2(POPDC1):c.910G>A (p.Asp304Asn)
|
rs147469762
|
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.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_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
|
rs188412916
|
0.00029
|
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
|
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
0.00029
|
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
|
NM_001942.4(DSG1):c.2933G>T (p.Gly978Val)
|
rs151170788
|
0.00029
|
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
|
NM_002206.3(ITGA7):c.1681G>A (p.Val561Met)
|
rs150089409
|
0.00029
|
|
NM_003803.4(MYOM1):c.1052G>A (p.Arg351Gln)
|
rs369420540
|
0.00029
|
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
|
NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr)
|
rs373299536
|
0.00029
|
|
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)
|
rs370397767
|
0.00029
|
|
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)
|
rs144054353
|
0.00029
|
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00029
|
|
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
|
rs141435008
|
0.00029
|
|
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg)
|
rs142601663
|
0.00029
|
|
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)
|
rs199811263
|
0.00029
|
|
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser)
|
rs376635652
|
0.00029
|
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
|
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)
|
rs148389745
|
0.00029
|
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
|
NM_015295.3(SMCHD1):c.4255A>G (p.Thr1419Ala)
|
rs191487554
|
0.00029
|
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
|
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp)
|
rs199907923
|
0.00029
|
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
|
NM_017799.4(TMEM260):c.1781T>C (p.Met594Thr)
|
rs370852423
|
0.00029
|
|
NM_017950.4(CCDC40):c.1109G>A (p.Arg370His)
|
rs77027689
|
0.00029
|
|
NM_020451.3(SELENON):c.716G>A (p.Arg239His)
|
rs199709671
|
0.00029
|
|
NM_020812.4(DOCK6):c.3052C>T (p.Arg1018Trp)
|
rs200261463
|
0.00029
|
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
|
NM_032608.7(MYO18B):c.619G>A (p.Glu207Lys)
|
rs1196149636
|
0.00029
|
|
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe)
|
rs139060322
|
0.00029
|
|
NM_033026.6(PCLO):c.6167G>A (p.Arg2056Lys)
|
rs189561105
|
0.00029
|
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00029
|
|
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr)
|
rs149128439
|
0.00029
|
|
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)
|
rs139600654
|
0.00029
|
|
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)
|
rs147841761
|
0.00029
|
|
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)
|
rs375079396
|
0.00029
|
|
NM_201384.3(PLEC):c.2719C>T (p.Arg907Cys)
|
rs201386370
|
0.00029
|
|
NM_201384.3(PLEC):c.5027G>A (p.Arg1676His)
|
rs62640371
|
0.00029
|
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00028
|
|
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)
|
rs181892289
|
0.00028
|
|
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)
|
rs200945025
|
0.00028
|
|
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)
|
rs78420579
|
0.00028
|
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00028
|
|
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
|
rs146266992
|
0.00028
|
|
NM_003403.5(YY1):c.194A>G (p.His65Arg)
|
rs376271434
|
0.00028
|
|
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)
|
rs1013724730
|
0.00028
|
|
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)
|
rs374267444
|
0.00028
|
|
NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu)
|
rs200491028
|
0.00028
|
|
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)
|
rs114203578
|
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_014049.5(ACAD9):c.479A>C (p.Glu160Ala)
|
rs145391132
|
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_014704.4(CEP104):c.626A>G (p.Glu209Gly)
|
rs140029326
|
0.00028
|
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00028
|
|
NM_016343.4(CENPF):c.4925G>A (p.Arg1642Gln)
|
rs373295400
|
0.00028
|
|
NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr)
|
rs112149155
|
0.00028
|
|
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)
|
rs200471470
|
0.00028
|
|
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)
|
rs148997255
|
0.00028
|
|
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)
|
rs144236975
|
0.00028
|
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00028
|
|
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)
|
rs201345883
|
0.00028
|
|
NM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly)
|
rs202136724
|
0.00028
|
|
NM_173602.3(DIP2B):c.1750G>A (p.Val584Ile)
|
rs140720216
|
0.00028
|
|
NM_181783.4(TMTC3):c.59A>G (p.Tyr20Cys)
|
rs140803138
|
0.00028
|
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00028
|
|
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)
|
rs141996707
|
0.00028
|
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00028
|
|
NM_201384.3(PLEC):c.12677C>T (p.Thr4226Met)
|
rs188341564
|
0.00028
|
|
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg)
|
rs150190849
|
0.00027
|
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00027
|
|
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)
|
rs148404730
|
0.00027
|
|
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)
|
rs138621982
|
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_001127178.3(PIGG):c.826A>G (p.Ser276Gly)
|
rs373951989
|
0.00027
|
|
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)
|
rs146213322
|
0.00027
|
|
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
|
rs547409918
|
0.00027
|
|
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017
|
0.00027
|
|
NM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter)
|
rs143524297
|
0.00027
|
|
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro)
|
rs145899150
|
0.00027
|
|
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln)
|
rs202162034
|
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_001324418.2(ADAM22):c.2861G>A (p.Arg954Gln)
|
rs200969340
|
0.00027
|
|
NM_001355436.2(SPTB):c.5209C>T (p.Arg1737Trp)
|
rs149727354
|
0.00027
|
|
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr)
|
rs138521935
|
0.00027
|
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00027
|
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00027
|
|
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)
|
rs113360085
|
0.00027
|
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
|
NM_004706.4(ARHGEF1):c.2149G>A (p.Glu717Lys)
|
rs201127336
|
0.00027
|
|
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=)
|
rs536882233
|
0.00027
|
|
NM_005529.7(HSPG2):c.12257G>A (p.Arg4086Gln)
|
rs142235298
|
0.00027
|
|
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)
|
rs139855779
|
0.00027
|
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00027
|
|
NM_017827.4(SARS2):c.17C>T (p.Ala6Val)
|
rs201988841
|
0.00027
|
|
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
|
rs138303522
|
0.00027
|
|
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)
|
rs200179503
|
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.11047T>A (p.Ser3683Thr)
|
rs199977941
|
0.00027
|
|
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
|
rs200836164
|
0.00027
|
|
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp)
|
rs137985190
|
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_201384.3(PLEC):c.12907G>A (p.Val4303Met)
|
rs200668859
|
0.00027
|
|
NM_201384.3(PLEC):c.682C>T (p.Arg228Trp)
|
rs200249446
|
0.00027
|
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
|
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
|
rs560724911
|
0.00026
|
|
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
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_000400.4(ERCC2):c.1606G>A (p.Val536Met)
|
rs142568756
|
0.00026
|
|
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)
|
rs749423866
|
0.00026
|
|
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)
|
rs142264176
|
0.00026
|
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00026
|
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)
|
rs547608972
|
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_001006658.3(CR2):c.1475A>G (p.Asn492Ser)
|
rs142212472
|
0.00026
|
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
|
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)
|
rs150681002
|
0.00026
|
|
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)
|
rs202145313
|
0.00026
|
|
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly)
|
rs375894183
|
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.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_001355436.2(SPTB):c.871G>A (p.Gly291Ser)
|
rs143599352
|
0.00026
|
|
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu)
|
rs139826951
|
0.00026
|
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
|
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)
|
rs375966817
|
0.00026
|
|
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490
|
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_004239.4(TRIP11):c.4558-32T>G
|
rs200042128
|
0.00026
|
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)
|
rs587783633
|
0.00026
|
|
NM_005529.7(HSPG2):c.12929A>C (p.Asp4310Ala)
|
rs144864169
|
0.00026
|
|
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys)
|
rs55646900
|
0.00026
|
|
NM_013432.5(TONSL):c.4047G>T (p.Arg1349Ser)
|
rs561356988
|
0.00026
|
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
|
NM_017534.6(MYH2):c.1082A>T (p.His361Leu)
|
rs139478967
|
0.00026
|
|
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)
|
rs201620755
|
0.00026
|
|
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)
|
rs148567547
|
0.00026
|
|
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)
|
rs376797531
|
0.00026
|
|
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)
|
rs150977210
|
0.00026
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
rs199707852
|
0.00026
|
|
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)
|
rs776947530
|
0.00026
|
|
NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln)
|
rs148354898
|
0.00026
|
|
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)
|
rs140317494
|
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_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00026
|
|
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)
|
rs370039804
|
0.00026
|
|
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys)
|
rs149918889
|
0.00026
|
|
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His)
|
rs146769373
|
0.00026
|
|
NM_198075.4(LRRC56):c.972T>C (p.His324=)
|
rs199784204
|
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_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)
|
rs200717164
|
0.00025
|
|
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_000098.3(CPT2):c.1048C>T (p.Arg350Cys)
|
rs151003641
|
0.00025
|
|
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr)
|
rs150888506
|
0.00025
|
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
|
NM_000334.4(SCN4A):c.845G>A (p.Arg282His)
|
rs200615763
|
0.00025
|
|
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln)
|
rs142469446
|
0.00025
|
|
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)
|
rs142161945
|
0.00025
|
|
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)
|
rs146854942
|
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_000747.3(CHRNB1):c.593A>G (p.His198Arg)
|
rs76251791
|
0.00025
|
|
NM_001017420.3(ESCO2):c.179T>C (p.Leu60Pro)
|
rs148224141
|
0.00025
|
|
NM_001072.4(UGT1A6):c.16C>T (p.Arg6Cys)
|
rs546429827
|
0.00025
|
|
NM_001080414.4(CCDC88C):c.6046G>A (p.Gly2016Arg)
|
rs10142844
|
0.00025
|
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00025
|
|
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)
|
rs147483765
|
0.00025
|
|
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly)
|
rs200056050
|
0.00025
|
|
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)
|
rs372540293
|
0.00025
|
|
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)
|
rs149471462
|
0.00025
|
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00025
|
|
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)
|
rs374042346
|
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.1261G>C (p.Glu421Gln)
|
rs142982338
|
0.00025
|
|
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys)
|
rs143293179
|
0.00025
|
|
NM_001375808.2(LPIN2):c.1133C>T (p.Pro378Leu)
|
rs146067222
|
0.00025
|
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00025
|
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00025
|
|
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)
|
rs200390529
|
0.00025
|
|
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)
|
rs201469044
|
0.00025
|
|
NM_004260.4(RECQL4):c.214-3C>A
|
rs367849648
|
0.00025
|
|
NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln)
|
rs141250244
|
0.00025
|
|
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)
|
rs114190729
|
0.00025
|
|
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln)
|
rs150423237
|
0.00025
|
|
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)
|
rs146286188
|
0.00025
|
|
NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu)
|
rs144217842
|
0.00025
|
|
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His)
|
rs149479865
|
0.00025
|
|
NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)
|
rs144442290
|
0.00025
|
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00025
|
|
NM_015512.5(DNAH1):c.6412G>A (p.Glu2138Lys)
|
rs375829118
|
0.00025
|
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00025
|
|
NM_020376.4(PNPLA2):c.1217C>T (p.Pro406Leu)
|
rs370098225
|
0.00025
|
|
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)
|
rs982364753
|
0.00025
|
|
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
|
rs150175783
|
0.00025
|
|
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala)
|
rs549760994
|
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_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
|
NM_030962.4(SBF2):c.4515G>A (p.Val1505=)
|
rs144935862
|
0.00025
|
|
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)
|
rs556217576
|
0.00025
|
|
NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr)
|
rs375717740
|
0.00025
|
|
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp)
|
rs142135345
|
0.00025
|
|
NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln)
|
rs138373177
|
0.00025
|
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
|
NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys)
|
rs202172091
|
0.00025
|
|
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val)
|
rs782439290
|
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_213599.3(ANO5):c.689A>G (p.Asp230Gly)
|
rs139259793
|
0.00025
|
|
NM_000037.4(ANK1):c.694G>A (p.Val232Ile)
|
rs201000616
|
0.00024
|
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00024
|
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
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_000334.4(SCN4A):c.436G>A (p.Val146Ile)
|
rs367988986
|
0.00024
|
|
NM_000360.4(TH):c.1334+3G>C
|
rs371566928
|
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_000426.4(LAMA2):c.4010A>G (p.His1337Arg)
|
rs139739075
|
0.00024
|
|
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)
|
rs144830879
|
0.00024
|
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
|
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)
|
rs199682341
|
0.00024
|
|
NM_001089.3(ABCA3):c.3505G>A (p.Val1169Met)
|
rs546091864
|
0.00024
|
|
NM_001114134.2(EPB42):c.10+91G>A
|
rs150530456
|
0.00024
|
|
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met)
|
rs199787216
|
0.00024
|
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
|
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu)
|
rs377574169
|
0.00024
|
|
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)
|
rs200304547
|
0.00024
|
|
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu)
|
rs147872436
|
0.00024
|
|
NM_001164508.2(NEB):c.6702+36G>A
|
rs377174386
|
0.00024
|
|
NM_001199563.2(POPDC1):c.244G>A (p.Val82Ile)
|
rs187461443
|
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_001303052.2(MYT1L):c.21G>C (p.Glu7Asp)
|
rs191317359
|
0.00024
|
|
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
|
rs373593599
|
0.00024
|
|
NM_001365308.1(BMPER):c.1514G>A (p.Arg505His)
|
rs189187507
|
0.00024
|
|
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln)
|
rs201843717
|
0.00024
|
|
NM_001386298.1(CIC):c.5299C>T (p.Pro1767Ser)
|
rs139895527
|
0.00024
|
|
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser)
|
rs201777547
|
0.00024
|
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
|
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)
|
rs139006210
|
0.00024
|
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
|
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln)
|
rs139498556
|
0.00024
|
|
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)
|
rs142002241
|
0.00024
|
|
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg)
|
rs545819982
|
0.00024
|
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
0.00024
|
|
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)
|
rs766051613
|
0.00024
|
|
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)
|
rs150901100
|
0.00024
|
|
NM_005448.2(BMP15):c.811G>T (p.Gly271Cys)
|
rs782269507
|
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_014846.4(WASHC5):c.2422A>G (p.Ile808Val)
|
rs144507279
|
0.00024
|
|
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys)
|
rs193001955
|
0.00024
|
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
|
NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys)
|
rs139219355
|
0.00024
|
|
NM_024656.4(COLGALT1):c.1355T>C (p.Met452Thr)
|
rs145353960
|
0.00024
|
|
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)
|
rs201393598
|
0.00024
|
|
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys)
|
rs143577178
|
0.00024
|
|
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)
|
rs139155910
|
0.00024
|
|
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
|
rs370906448
|
0.00024
|
|
NM_153603.4(COG7):c.2192G>A (p.Arg731His)
|
rs149289920
|
0.00024
|
|
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)
|
rs142229551
|
0.00024
|
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
|
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)
|
rs201664645
|
0.00024
|
|
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu)
|
rs144276162
|
0.00024
|
|
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=)
|
rs148486281
|
0.00024
|
|
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp)
|
rs192022872
|
0.00024
|
|
NM_201384.3(PLEC):c.6385G>T (p.Ala2129Ser)
|
rs782449012
|
0.00024
|
|
NM_201384.3(PLEC):c.9658C>T (p.Arg3220Trp)
|
rs200643300
|
0.00024
|
|
NM_201384.3(PLEC):c.9791C>T (p.Ala3264Val)
|
rs200413602
|
0.00024
|
|
NM_207361.6(FREM2):c.9356C>T (p.Thr3119Met)
|
rs143100970
|
0.00024
|
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00023
|
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00023
|
|
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val)
|
rs367751078
|
0.00023
|
|
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)
|
rs142600166
|
0.00023
|
|
NM_000178.4(GSS):c.596A>G (p.Tyr199Cys)
|
rs138659144
|
0.00023
|
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
|
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)
|
rs778791031
|
0.00023
|
|
NM_000337.6(SGCD):c.3+3G>C
|
rs573109924
|
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_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
|
NM_000426.4(LAMA2):c.902C>T (p.Ala301Val)
|
rs144053918
|
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_000747.3(CHRNB1):c.340G>A (p.Val114Met)
|
rs149433073
|
0.00023
|
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00023
|
|
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met)
|
rs377037072
|
0.00023
|
|
NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg)
|
rs199634098
|
0.00023
|
|
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)
|
rs370206339
|
0.00023
|
|
NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe)
|
rs561481156
|
0.00023
|
|
NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)
|
rs201628941
|
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_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)
|
rs575775297
|
0.00023
|
|
NM_001355436.2(SPTB):c.1832G>A (p.Arg611His)
|
rs148927610
|
0.00023
|
|
NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg)
|
rs780388033
|
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_001498.4(GCLC):c.447-3T>C
|
rs368905821
|
0.00023
|
|
NM_001606.5(ABCA2):c.1753G>A (p.Asp585Asn)
|
rs183080880
|
0.00023
|
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00023
|
|
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)
|
rs375452881
|
0.00023
|
|
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)
|
rs143531636
|
0.00023
|
|
NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu)
|
rs76938320
|
0.00023
|
|
NM_003922.4(HERC1):c.7615G>A (p.Ala2539Thr)
|
rs200745033
|
0.00023
|
|
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)
|
rs368380934
|
0.00023
|
|
NM_004369.4(COL6A3):c.9494-2A>G
|
rs142546062
|
0.00023
|
|
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)
|
rs373739940
|
0.00023
|
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00023
|
|
NM_004667.6(HERC2):c.3705A>G (p.Ile1235Met)
|
rs142553001
|
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_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00023
|
|
NM_005996.4(TBX3):c.700A>G (p.Ile234Val)
|
rs117465019
|
0.00023
|
|
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met)
|
rs142445941
|
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_015073.3(SIPA1L3):c.4808C>G (p.Pro1603Arg)
|
rs769799297
|
0.00023
|
|
NM_015100.4(POGZ):c.358A>G (p.Met120Val)
|
rs377068982
|
0.00023
|
|
NM_016264.4(ZNF44):c.1493dup (p.His498fs)
|
rs756150082
|
0.00023
|
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00023
|
|
NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala)
|
rs113303079
|
0.00023
|
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00023
|
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
|
NM_022437.3(ABCG8):c.1894G>A (p.Val632Ile)
|
rs151145884
|
0.00023
|
|
NM_024678.6(NARS2):c.206C>G (p.Ser69Cys)
|
rs149009700
|
0.00023
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00023
|
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00023
|
|
NM_144628.4(TBC1D20):c.407G>A (p.Arg136His)
|
rs374594473
|
0.00023
|
|
NM_173660.5(DOK7):c.1406C>A (p.Pro469His)
|
rs147185207
|
0.00023
|
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
|
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)
|
rs141275966
|
0.00023
|
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
|
NM_198576.4(AGRN):c.2002G>A (p.Glu668Lys)
|
rs199801106
|
0.00023
|
|
NM_201384.3(PLEC):c.10447G>A (p.Val3483Met)
|
rs782236056
|
0.00023
|
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00023
|
|
NM_201384.3(PLEC):c.3964C>T (p.His1322Tyr)
|
rs200411401
|
0.00023
|
|
NM_201384.3(PLEC):c.6488C>G (p.Ala2163Gly)
|
rs201845757
|
0.00023
|
|
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)
|
rs370003608
|
0.00023
|
|
NM_201384.3(PLEC):c.9652C>T (p.Arg3218Trp)
|
rs368758264
|
0.00023
|
|
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg)
|
rs200263785
|
0.00022
|
|
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile)
|
rs200759807
|
0.00022
|
|
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)
|
rs199718635
|
0.00022
|
|
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
|
rs148389013
|
0.00022
|
|
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
|
rs201414160
|
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_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)
|
rs141235562
|
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_000718.4(CACNA1B):c.3295G>A (p.Val1099Met)
|
rs200861471
|
0.00022
|
|
NM_000949.7(PRLR):c.766G>A (p.Val256Met)
|
rs151203148
|
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_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00022
|
|
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)
|
rs143562525
|
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.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
|
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)
|
rs200018866
|
0.00022
|
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
|
NM_001267550.2(TTN):c.19850G>A (p.Gly6617Asp)
|
rs371847228
|
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_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
|
NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg)
|
rs149741610
|
0.00022
|
|
NM_001457.4(FLNB):c.4062-13C>G
|
rs143371162
|
0.00022
|
|
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)
|
rs139488626
|
0.00022
|
|
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)
|
rs142151614
|
0.00022
|
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
|
NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn)
|
rs146797648
|
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_004393.6(DAG1):c.920C>G (p.Pro307Arg)
|
rs374092106
|
0.00022
|
|
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
|
rs148933357
|
0.00022
|
|
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys)
|
rs143210045
|
0.00022
|
|
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp)
|
rs148803046
|
0.00022
|
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
|
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala)
|
rs146687198
|
0.00022
|
|
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser)
|
rs544959269
|
0.00022
|
|
NM_005993.5(TBCD):c.2582C>T (p.Thr861Met)
|
rs370658754
|
0.00022
|
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00022
|
|
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)
|
rs546499094
|
0.00022
|
|
NM_006486.3(FBLN1):c.1685G>A (p.Arg562His)
|
rs146772136
|
0.00022
|
|
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)
|
rs200247956
|
0.00022
|
|
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met)
|
rs149595527
|
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_017534.6(MYH2):c.4442G>A (p.Arg1481His)
|
rs199751037
|
0.00022
|
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00022
|
|
NM_019023.5(PRMT7):c.1945G>A (p.Val649Ile)
|
rs143131470
|
0.00022
|
|
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser)
|
rs565209005
|
0.00022
|
|
NM_020376.4(PNPLA2):c.493G>A (p.Val165Met)
|
rs751072211
|
0.00022
|
|
NM_020987.5(ANK3):c.8573C>T (p.Ser2858Leu)
|
rs78194762
|
0.00022
|
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00022
|
|
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)
|
rs551750608
|
0.00022
|
|
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)
|
rs557276019
|
0.00022
|
|
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)
|
rs377555406
|
0.00022
|
|
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)
|
rs376507352
|
0.00022
|
|
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp)
|
rs150085946
|
0.00022
|
|
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
|
rs189734757
|
0.00022
|
|
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
|
rs142598777
|
0.00022
|
|
NM_201384.3(PLEC):c.2434G>C (p.Val812Leu)
|
rs372398638
|
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_000070.3(CAPN3):c.725G>A (p.Arg242Lys)
|
rs146253209
|
0.00021
|
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
|
NM_000081.4(LYST):c.997C>T (p.His333Tyr)
|
rs140821981
|
0.00021
|
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00021
|
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
|
NM_000178.4(GSS):c.707G>A (p.Arg236Gln)
|
rs34239729
|
0.00021
|
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
|
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln)
|
rs760649578
|
0.00021
|
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
|
NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp)
|
rs142445733
|
0.00021
|
|
NM_000426.4(LAMA2):c.5689G>A (p.Ala1897Thr)
|
rs200518204
|
0.00021
|
|
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val)
|
rs143701391
|
0.00021
|
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00021
|
|
NM_000961.4(PTGIS):c.725C>T (p.Ser242Phe)
|
rs141132754
|
0.00021
|
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
|
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)
|
rs146234177
|
0.00021
|
|
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)
|
rs201073763
|
0.00021
|
|
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)
|
rs146064054
|
0.00021
|
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
|
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)
|
rs370059449
|
0.00021
|
|
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp)
|
rs959344565
|
0.00021
|
|
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu)
|
rs568280615
|
0.00021
|
|
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His)
|
rs148420126
|
0.00021
|
|
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)
|
rs191722579
|
0.00021
|
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
|
NM_001242882.2(NAXD):c.671C>T (p.Thr224Met)
|
rs149297756
|
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.55852T>C (p.Cys18618Arg)
|
rs369260968
|
0.00021
|
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
|
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr)
|
rs371030086
|
0.00021
|
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
|
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe)
|
rs72657327
|
0.00021
|
|
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)
|
rs200983489
|
0.00021
|
|
NM_001348323.3(TRIP12):c.1823C>T (p.Ala608Val)
|
rs139703319
|
0.00021
|
|
NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)
|
rs369637193
|
0.00021
|
|
NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)
|
rs376587394
|
0.00021
|
|
NM_001365999.1(SZT2):c.*2622C>T
|
rs907572913
|
0.00021
|
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
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_001733.7(C1R):c.419C>T (p.Ala140Val)
|
rs200539827
|
0.00021
|
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00021
|
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
|
NM_001848.3(COL6A1):c.548G>A (p.Gly183Asp)
|
rs766184155
|
0.00021
|
|
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)
|
rs148552966
|
0.00021
|
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
|
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)
|
rs398123650
|
0.00021
|
|
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)
|
rs201188174
|
0.00021
|
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
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_002472.3(MYH8):c.277A>G (p.Met93Val)
|
rs144036067
|
0.00021
|
|
NM_002582.4(PARN):c.1733T>G (p.Leu578Arg)
|
rs748575531
|
0.00021
|
|
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)
|
rs145972324
|
0.00021
|
|
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)
|
rs374589766
|
0.00021
|
|
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)
|
rs142885301
|
0.00021
|
|
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp)
|
rs368982201
|
0.00021
|
|
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)
|
rs374134397
|
0.00021
|
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00021
|
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00021
|
|
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)
|
rs370955937
|
0.00021
|
|
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)
|
rs368608057
|
0.00021
|
|
NM_005993.5(TBCD):c.1318+23870C>T
|
rs565738422
|
0.00021
|
|
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)
|
rs200683397
|
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_014339.7(IL17RA):c.2483T>A (p.Leu828His)
|
rs373598318
|
0.00021
|
|
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)
|
rs140512094
|
0.00021
|
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00021
|
|
NM_014967.5(FAN1):c.1184T>C (p.Leu395Pro)
|
rs201153099
|
0.00021
|
|
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met)
|
rs569043880
|
0.00021
|
|
NM_015374.3(SUN2):c.431C>T (p.Ser144Leu)
|
rs143710758
|
0.00021
|
|
NM_015721.3(GEMIN4):c.3068G>A (p.Ser1023Asn)
|
rs200379895
|
0.00021
|
|
NM_020436.5(SALL4):c.2260G>A (p.Val754Met)
|
rs199607966
|
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_032447.5(FBN3):c.4282T>C (p.Cys1428Arg)
|
rs200146570
|
0.00021
|
|
NM_032608.7(MYO18B):c.22G>A (p.Ala8Thr)
|
rs139296373
|
0.00021
|
|
NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)
|
rs200241881
|
0.00021
|
|
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu)
|
rs140393851
|
0.00021
|
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
|
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)
|
rs200701182
|
0.00021
|
|
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met)
|
rs143842011
|
0.00021
|
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
|
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val)
|
rs139544072
|
0.00021
|
|
NM_201384.3(PLEC):c.10208G>A (p.Arg3403Gln)
|
rs369621159
|
0.00021
|
|
NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys)
|
rs200034893
|
0.00021
|
|
NM_201384.3(PLEC):c.11222G>A (p.Arg3741Gln)
|
rs373215657
|
0.00021
|
|
NM_201384.3(PLEC):c.11437C>T (p.Arg3813Cys)
|
rs201666443
|
0.00021
|
|
NM_201384.3(PLEC):c.1613G>A (p.Arg538His)
|
rs200864968
|
0.00021
|
|
NM_201384.3(PLEC):c.1771C>T (p.Arg591Cys)
|
rs376215217
|
0.00021
|
|
NM_201384.3(PLEC):c.5222G>A (p.Arg1741His)
|
rs782125424
|
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.8411G>A (p.Arg2804His)
|
rs376796173
|
0.00021
|
|
NM_201384.3(PLEC):c.885G>A (p.Met295Ile)
|
rs201041690
|
0.00021
|
|
NM_213599.3(ANO5):c.149G>A (p.Arg50Gln)
|
rs370084681
|
0.00021
|
|
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
|
rs201129527
|
0.00020
|
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
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.6426T>C (p.Asn2142=)
|
rs150730793
|
0.00020
|
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
|
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)
|
rs201515915
|
0.00020
|
|
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
|
rs753862254
|
0.00020
|
|
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)
|
rs368912483
|
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_001329943.3(KIAA0586):c.*889G>A
|
rs554406383
|
0.00020
|
|
NM_001365999.1(SZT2):c.5426A>T (p.Glu1809Val)
|
rs368450227
|
0.00020
|
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00020
|
|
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)
|
rs200269431
|
0.00020
|
|
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)
|
rs121909582
|
0.00020
|
|
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)
|
rs2056451534
|
0.00020
|
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00020
|
|
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp)
|
rs370624136
|
0.00020
|
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00020
|
|
NM_003055.3(SLC18A3):c.781G>C (p.Ala261Pro)
|
rs139732053
|
0.00020
|
|
NM_005422.4(TECTA):c.1177C>T (p.Pro393Ser)
|
rs142926325
|
0.00020
|
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00020
|
|
NM_006420.3(ARFGEF2):c.5068T>G (p.Cys1690Gly)
|
rs148821408
|
0.00020
|
|
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)
|
rs201818373
|
0.00020
|
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
|
NM_018662.3(DISC1):c.1012C>T (p.Arg338Trp)
|
rs561520652
|
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_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg)
|
rs142222368
|
0.00020
|
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00020
|
|
NM_138387.4(G6PC3):c.218+486A>G
|
rs572709177
|
0.00020
|
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
|
NM_139027.6(ADAMTS13):c.3401-40C>T
|
rs199695827
|
0.00020
|
|
NM_152305.3(POGLUT1):c.733A>G (p.Met245Val)
|
rs368566548
|
0.00020
|
|
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn)
|
rs145075337
|
0.00020
|
|
NM_182914.3(SYNE2):c.12377G>C (p.Ser4126Thr)
|
rs113360430
|
0.00020
|
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
|
NM_201384.3(PLEC):c.1179T>G (p.Cys393Trp)
|
rs782237146
|
0.00020
|
|
NM_201384.3(PLEC):c.11818G>A (p.Val3940Met)
|
rs534537112
|
0.00020
|
|
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)
|
rs147741842
|
0.00019
|
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
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_000098.3(CPT2):c.1438G>A (p.Gly480Arg)
|
rs201508063
|
0.00019
|
|
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe)
|
rs192275019
|
0.00019
|
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
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_000426.4(LAMA2):c.2932G>A (p.Asp978Asn)
|
rs202050052
|
0.00019
|
|
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys)
|
rs138303386
|
0.00019
|
|
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)
|
rs200921233
|
0.00019
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
rs141673997
|
0.00019
|
|
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)
|
rs147918857
|
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_000553.6(WRN):c.835C>T (p.Arg279Trp)
|
rs199923241
|
0.00019
|
|
NM_000581.4(GPX1):c.395C>T (p.Ala132Val)
|
rs201091540
|
0.00019
|
|
NM_000751.3(CHRND):c.728G>A (p.Arg243His)
|
rs148869069
|
0.00019
|
|
NM_001036.6(RYR3):c.12029G>A (p.Arg4010His)
|
rs202140253
|
0.00019
|
|
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
|
rs200684775
|
0.00019
|
|
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
|
rs145464516
|
0.00019
|
|
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)
|
rs149033995
|
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_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00019
|
|
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114
|
0.00019
|
|
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)
|
rs377375638
|
0.00019
|
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
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.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
|
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)
|
rs72629782
|
0.00019
|
|
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu)
|
rs373446383
|
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.32780A>G (p.Lys10927Arg)
|
rs373657520
|
0.00019
|
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
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.1182+3A>G
|
rs45556435
|
0.00019
|
|
NM_001355436.2(SPTB):c.3538G>A (p.Ala1180Thr)
|
rs143493156
|
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_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)
|
rs146767495
|
0.00019
|
|
NM_001378964.1(CDON):c.644C>G (p.Pro215Arg)
|
rs377604853
|
0.00019
|
|
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val)
|
rs142517429
|
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_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
|
NM_001498.4(GCLC):c.196C>T (p.Arg66Trp)
|
rs143809584
|
0.00019
|
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00019
|
|
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)
|
rs201736323
|
0.00019
|
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
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_002206.3(ITGA7):c.3287C>T (p.Thr1096Met)
|
rs200485048
|
0.00019
|
|
NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys)
|
rs201594532
|
0.00019
|
|
NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp)
|
rs150013302
|
0.00019
|
|
NM_002469.3(MYF6):c.184G>A (p.Val62Ile)
|
rs190471225
|
0.00019
|
|
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His)
|
rs372794975
|
0.00019
|
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
|
NM_003114.5(SPAG1):c.476C>T (p.Ala159Val)
|
rs370505284
|
0.00019
|
|
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn)
|
rs141774400
|
0.00019
|
|
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu)
|
rs199504304
|
0.00019
|
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00019
|
|
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln)
|
rs144755776
|
0.00019
|
|
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys)
|
rs200997062
|
0.00019
|
|
NM_005529.7(HSPG2):c.11881G>A (p.Ala3961Thr)
|
rs371079941
|
0.00019
|
|
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)
|
rs143706338
|
0.00019
|
|
NM_006895.3(HNMT):c.325G>A (p.Glu109Lys)
|
rs528223406
|
0.00019
|
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
|
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)
|
rs138699534
|
0.00019
|
|
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)
|
rs769903041
|
0.00019
|
|
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu)
|
rs149563712
|
0.00019
|
|
NM_014498.5(GOLIM4):c.2006G>A (p.Arg669Gln)
|
rs542482925
|
0.00019
|
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
|
NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val)
|
rs375796795
|
0.00019
|
|
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly)
|
rs201221497
|
0.00019
|
|
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
|
rs142041405
|
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_015690.5(STK36):c.1915+1G>A
|
rs559686721
|
0.00019
|
|
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)
|
rs139691540
|
0.00019
|
|
NM_017668.3(NDE1):c.302C>T (p.Ala101Val)
|
rs201587506
|
0.00019
|
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
|
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn)
|
rs375800869
|
0.00019
|
|
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys)
|
rs112997359
|
0.00019
|
|
NM_020800.3(IFT80):c.1826G>A (p.Arg609His)
|
rs540494495
|
0.00019
|
|
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)
|
rs376297358
|
0.00019
|
|
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)
|
rs139113789
|
0.00019
|
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
|
NM_024700.4(SNIP1):c.1156G>A (p.Asp386Asn)
|
rs146974230
|
0.00019
|
|
NM_030922.7(NIPA2):c.233C>T (p.Ala78Val)
|
rs140858794
|
0.00019
|
|
NM_032237.5(POMK):c.44G>A (p.Arg15Gln)
|
rs377725187
|
0.00019
|
|
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)
|
rs34415548
|
0.00019
|
|
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)
|
rs766643057
|
0.00019
|
|
NM_133259.4(LRPPRC):c.2210+10C>T
|
rs200747013
|
0.00019
|
|
NM_138454.2(NXNL1):c.275A>G (p.Lys92Arg)
|
rs201992877
|
0.00019
|
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00019
|
|
NM_145868.2(ANXA11):c.107C>A (p.Pro36His)
|
rs199988035
|
0.00019
|
|
NM_152328.5(ADSS1):c.911G>A (p.Arg304His)
|
rs375602969
|
0.00019
|
|
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr)
|
rs142487510
|
0.00019
|
|
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His)
|
rs370993648
|
0.00019
|
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00019
|
|
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val)
|
rs372546949
|
0.00019
|
|
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys)
|
rs146398606
|
0.00019
|
|
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)
|
rs201466326
|
0.00019
|
|
NM_182931.3(KMT2E):c.946A>T (p.Met316Leu)
|
rs200289007
|
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_182961.4(SYNE1):c.15005T>C (p.Phe5002Ser)
|
rs146666200
|
0.00019
|
|
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
|
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)
|
rs142143178
|
0.00019
|
|
NM_201384.3(PLEC):c.11351A>T (p.Gln3784Leu)
|
rs372123082
|
0.00019
|
|
NM_201384.3(PLEC):c.3010G>A (p.Val1004Met)
|
rs201782280
|
0.00019
|
|
NM_201384.3(PLEC):c.4745G>A (p.Arg1582His)
|
rs781876093
|
0.00019
|
|
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)
|
rs376081492
|
0.00019
|
|
NM_201548.5(CERKL):c.134G>A (p.Arg45Gln)
|
rs568128856
|
0.00019
|
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
|
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu)
|
rs745908606
|
0.00019
|
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
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_000334.4(SCN4A):c.611C>T (p.Ala204Val)
|
rs199859508
|
0.00018
|
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
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_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)
|
rs200910800
|
0.00018
|
|
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser)
|
rs141505120
|
0.00018
|
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
|
NM_001243279.3(ACSF3):c.1613+3A>C
|
rs373631805
|
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_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)
|
rs376827094
|
0.00018
|
|
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met)
|
rs748497956
|
0.00018
|
|
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)
|
rs148609143
|
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_001805.4(CEBPE):c.410G>A (p.Ser137Asn)
|
rs140606768
|
0.00018
|
|
NM_003801.4(GPAA1):c.541G>A (p.Val181Ile)
|
rs199578024
|
0.00018
|
|
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val)
|
rs537920451
|
0.00018
|
|
NM_005476.7(GNE):c.1933+3G>A
|
rs370730412
|
0.00018
|
|
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp)
|
rs145185113
|
0.00018
|
|
NM_005529.7(HSPG2):c.4571C>T (p.Ala1524Val)
|
rs144546505
|
0.00018
|
|
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)
|
rs765844107
|
0.00018
|
|
NM_006295.3(VARS1):c.2254C>T (p.Arg752Trp)
|
rs368988920
|
0.00018
|
|
NM_006446.5(SLCO1B1):c.1213G>A (p.Val405Ile)
|
rs376060151
|
0.00018
|
|
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln)
|
rs200620643
|
0.00018
|
|
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr)
|
rs140117667
|
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_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
|
NM_020376.4(PNPLA2):c.338G>A (p.Arg113His)
|
rs145999340
|
0.00018
|
|
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)
|
rs201690654
|
0.00018
|
|
NM_022464.5(SIL1):c.310C>G (p.Leu104Val)
|
rs150892227
|
0.00018
|
|
NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)
|
rs144287050
|
0.00018
|
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00018
|
|
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)
|
rs200986136
|
0.00018
|
|
NM_152305.3(POGLUT1):c.548G>A (p.Arg183Gln)
|
rs189569196
|
0.00018
|
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
|
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys)
|
rs536892317
|
0.00018
|
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
|
NM_201384.3(PLEC):c.6493G>A (p.Ala2165Thr)
|
rs371119003
|
0.00018
|
|
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile)
|
rs375225649
|
0.00018
|
|
NM_213599.3(ANO5):c.553G>C (p.Glu185Gln)
|
rs140381407
|
0.00018
|
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00017
|
|
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_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr)
|
rs146863119
|
0.00017
|
|
NM_000080.4(CHRNE):c.1480_*31del (p.Ter494GlnextTer?)
|
rs781409523
|
0.00017
|
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00017
|
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
|
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu)
|
rs200746350
|
0.00017
|
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
|
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
|
rs112571714
|
0.00017
|
|
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
|
rs367813829
|
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_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
|
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
|
rs149609996
|
0.00017
|
|
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)
|
rs371403343
|
0.00017
|
|
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala)
|
rs138732723
|
0.00017
|
|
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser)
|
rs140202046
|
0.00017
|
|
NM_000540.3(RYR1):c.2679C>G (p.Gly893=)
|
rs765657226
|
0.00017
|
|
NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)
|
rs761976262
|
0.00017
|
|
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
|
rs138845909
|
0.00017
|
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
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_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00017
|
|
NM_001126049.2(KLLN):c.184C>G (p.Arg62Gly)
|
rs548448478
|
0.00017
|
|
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)
|
rs745746091
|
0.00017
|
|
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)
|
rs764208388
|
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_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00017
|
|
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425
|
0.00017
|
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00017
|
|
NM_001199563.2(POPDC1):c.263G>A (p.Arg88Gln)
|
rs139236650
|
0.00017
|
|
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
|
rs140201659
|
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.73027G>A (p.Ala24343Thr)
|
rs72646895
|
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_001349206.2(LPIN1):c.967C>G (p.Pro323Ala)
|
rs150085274
|
0.00017
|
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
|
NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu)
|
rs140035596
|
0.00017
|
|
NM_001367561.1(DOCK7):c.160G>A (p.Ala54Thr)
|
rs150216310
|
0.00017
|
|
NM_001384125.1(BLTP1):c.2308G>A (p.Val770Ile)
|
rs373369660
|
0.00017
|
|
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser)
|
rs775345164
|
0.00017
|
|
NM_001719.3(BMP7):c.1156A>G (p.Ile386Val)
|
rs148632870
|
0.00017
|
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
|
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)
|
rs562898957
|
0.00017
|
|
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)
|
rs368307185
|
0.00017
|
|
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)
|
rs777671647
|
0.00017
|
|
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile)
|
rs371386355
|
0.00017
|
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00017
|
|
NM_002206.3(ITGA7):c.1460G>A (p.Ser487Asn)
|
rs140619961
|
0.00017
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
rs768581364
|
0.00017
|
|
NM_002336.3(LRP6):c.3406C>T (p.Arg1136Trp)
|
rs140962861
|
0.00017
|
|
NM_002816.5(PSMD12):c.881A>G (p.Lys294Arg)
|
rs201685625
|
0.00017
|
|
NM_002894.3(RBBP8):c.1063A>G (p.Lys355Glu)
|
rs200956310
|
0.00017
|
|
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00017
|
|
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu)
|
rs150120234
|
0.00017
|
|
NM_003331.5(TYK2):c.630-3C>T
|
rs750663278
|
0.00017
|
|
NM_003673.4(TCAP):c.187C>T (p.Arg63Cys)
|
rs758048577
|
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_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)
|
rs200626456
|
0.00017
|
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
|
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp)
|
rs369872091
|
0.00017
|
|
NM_004667.6(HERC2):c.10432G>A (p.Ala3478Thr)
|
rs149437745
|
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_005529.7(HSPG2):c.878G>A (p.Arg293His)
|
rs139873789
|
0.00017
|
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
|
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
|
rs780885506
|
0.00017
|
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
|
NM_016580.4(PCDH12):c.1972G>A (p.Val658Ile)
|
rs150358276
|
0.00017
|
|
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met)
|
rs150829316
|
0.00017
|
|
NM_018230.3(NUP133):c.732C>G (p.Ile244Met)
|
rs145946684
|
0.00017
|
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
|
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)
|
rs367690496
|
0.00017
|
|
NM_031293.3(PMFBP1):c.1009G>A (p.Glu337Lys)
|
rs149368238
|
0.00017
|
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00017
|
|
NM_152743.4(BRAT1):c.424G>A (p.Asp142Asn)
|
rs183545975
|
0.00017
|
|
NM_170754.4(TNS2):c.2544C>G (p.Ile848Met)
|
rs529213852
|
0.00017
|
|
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)
|
rs377757018
|
0.00017
|
|
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp)
|
rs577156980
|
0.00017
|
|
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His)
|
rs150629598
|
0.00017
|
|
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys)
|
rs35484093
|
0.00017
|
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
|
NM_201384.3(PLEC):c.10591G>A (p.Val3531Met)
|
rs201273543
|
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.5390G>A (p.Arg1797His)
|
rs782581787
|
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
|
|
NC_000015.10:g.84817000C>T
|
rs373853510
|
0.00016
|
|
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.535G>C (p.Asp179His)
|
rs147138516
|
0.00016
|
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
|
NM_000231.3(SGCG):c.196-3C>T
|
rs765273430
|
0.00016
|
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
|
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)
|
rs142756262
|
0.00016
|
|
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)
|
rs201455193
|
0.00016
|
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
|
NM_000435.3(NOTCH3):c.2938G>T (p.Ala980Ser)
|
rs376187165
|
0.00016
|
|
NM_000476.3(AK1):c.238A>G (p.Met80Val)
|
rs372248359
|
0.00016
|
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
|
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn)
|
rs139142846
|
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_001003722.2(GLE1):c.1109C>T (p.Pro370Leu)
|
rs147123899
|
0.00016
|
|
NM_001080517.3(SETD5):c.2614G>C (p.Gly872Arg)
|
rs375015539
|
0.00016
|
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
|
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln)
|
rs1013695050
|
0.00016
|
|
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)
|
rs148652047
|
0.00016
|
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
|
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)
|
rs61746816
|
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_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)
|
rs201836353
|
0.00016
|
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
|
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
|
rs200269437
|
0.00016
|
|
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)
|
rs376611641
|
0.00016
|
|
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)
|
rs373790988
|
0.00016
|
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
|
NM_001199563.2(POPDC1):c.386G>A (p.Arg129Gln)
|
rs148128379
|
0.00016
|
|
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)
|
rs1193520667
|
0.00016
|
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
|
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys)
|
rs377600383
|
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.33367G>A (p.Ala11123Thr)
|
rs200321239
|
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.81673G>A (p.Val27225Ile)
|
rs375211424
|
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.96928A>C (p.Thr32310Pro)
|
rs542208825
|
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_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
|
rs372801085
|
0.00016
|
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
|
NM_001278716.2(FBXL4):c.1103+13C>T
|
rs182076681
|
0.00016
|
|
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser)
|
rs201858974
|
0.00016
|
|
NM_001303.4(COX10):c.*1459del
|
rs574015313
|
0.00016
|
|
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)
|
rs375887656
|
0.00016
|
|
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)
|
rs757791330
|
0.00016
|
|
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)
|
rs200558933
|
0.00016
|
|
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His)
|
rs777568201
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val)
|
rs370779024
|
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_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)
|
rs571488000
|
0.00016
|
|
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)
|
rs145527336
|
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_002470.4(MYH3):c.4321G>A (p.Ala1441Thr)
|
rs190551597
|
0.00016
|
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
|
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
|
rs34044544
|
0.00016
|
|
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)
|
rs150544263
|
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_003126.4(SPTA1):c.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
|
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr)
|
rs372922115
|
0.00016
|
|
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)
|
rs142133195
|
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_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)
|
rs151021451
|
0.00016
|
|
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)
|
rs768052470
|
0.00016
|
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00016
|
|
NM_004525.3(LRP2):c.5959G>A (p.Asp1987Asn)
|
rs77017461
|
0.00016
|
|
NM_004826.4(ECEL1):c.2320G>A (p.Val774Met)
|
rs149447864
|
0.00016
|
|
NM_005529.7(HSPG2):c.4909C>T (p.Arg1637Cys)
|
rs142149919
|
0.00016
|
|
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met)
|
rs200944352
|
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_005529.7(HSPG2):c.7843G>A (p.Val2615Ile)
|
rs142226974
|
0.00016
|
|
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
|
rs200688234
|
0.00016
|
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
|
NM_005876.5(SPEG):c.206C>T (p.Thr69Met)
|
rs768017689
|
0.00016
|
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
|
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)
|
rs575720246
|
0.00016
|
|
NM_006059.4(LAMC3):c.1330C>T (p.Arg444Cys)
|
rs140066207
|
0.00016
|
|
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser)
|
rs749852883
|
0.00016
|
|
NM_006346.4(PIBF1):c.1124A>G (p.Asn375Ser)
|
rs376306777
|
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_007078.3(LDB3):c.769G>C (p.Glu257Gln)
|
rs143996848
|
0.00016
|
|
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr)
|
rs200539540
|
0.00016
|
|
NM_007254.4(PNKP):c.1412A>T (p.His471Leu)
|
rs142032281
|
0.00016
|
|
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln)
|
rs138266415
|
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_015466.4(PTPN23):c.1291C>T (p.Arg431Trp)
|
rs150712932
|
0.00016
|
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
|
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)
|
rs201374643
|
0.00016
|
|
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)
|
rs369542138
|
0.00016
|
|
NM_018489.3(ASH1L):c.1723T>G (p.Ser575Ala)
|
rs112249223
|
0.00016
|
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
|
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu)
|
rs762225826
|
0.00016
|
|
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)
|
rs140217866
|
0.00016
|
|
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro)
|
rs200480831
|
0.00016
|
|
NM_032608.7(MYO18B):c.4390C>T (p.Arg1464Trp)
|
rs372963298
|
0.00016
|
|
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe)
|
rs746870615
|
0.00016
|
|
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)
|
rs144487961
|
0.00016
|
|
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)
|
rs201827208
|
0.00016
|
|
NM_032888.4(COL27A1):c.4441G>A (p.Gly1481Ser)
|
rs200770448
|
0.00016
|
|
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)
|
rs190235251
|
0.00016
|
|
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
|
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr)
|
rs200887814
|
0.00016
|
|
NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg)
|
rs371943910
|
0.00016
|
|
NM_144699.4(ATP1A4):c.2539A>T (p.Thr847Ser)
|
rs145873902
|
0.00016
|
|
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
|
rs142817656
|
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_173660.5(DOK7):c.1352G>A (p.Arg451Gln)
|
rs200675356
|
0.00016
|
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
|
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)
|
rs4995611
|
0.00016
|
|
NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu)
|
rs201858632
|
0.00016
|
|
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val)
|
rs138350962
|
0.00016
|
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00016
|
|
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val)
|
rs541395341
|
0.00016
|
|
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu)
|
rs369236839
|
0.00016
|
|
NM_182961.4(SYNE1):c.5963A>G (p.Glu1988Gly)
|
rs146807361
|
0.00016
|
|
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile)
|
rs377531174
|
0.00016
|
|
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu)
|
rs555536675
|
0.00016
|
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00016
|
|
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)
|
rs151300068
|
0.00016
|
|
NM_201384.3(PLEC):c.1387C>T (p.Arg463Trp)
|
rs201884310
|
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.5965C>T (p.Arg1989Cys)
|
rs201465091
|
0.00016
|
|
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His)
|
rs552039931
|
0.00016
|
|
NM_201384.3(PLEC):c.8468G>A (p.Arg2823His)
|
rs376887979
|
0.00016
|
|
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)
|
rs138416277
|
0.00016
|
|
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp)
|
rs145235970
|
0.00015
|
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00015
|
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
|
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val)
|
rs141948992
|
0.00015
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
rs746829669
|
0.00015
|
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
|
NM_000097.7(CPOX):c.257T>C (p.Val86Ala)
|
rs770754663
|
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_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_000426.4(LAMA2):c.1873A>G (p.Ile625Val)
|
rs141658354
|
0.00015
|
|
NM_000426.4(LAMA2):c.2993G>A (p.Arg998His)
|
rs144946631
|
0.00015
|
|
NM_000426.4(LAMA2):c.4675G>A (p.Gly1559Ser)
|
rs377630412
|
0.00015
|
|
NM_000426.4(LAMA2):c.8638G>A (p.Asp2880Asn)
|
rs146976290
|
0.00015
|
|
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala)
|
rs370431965
|
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_000543.5(SMPD1):c.103C>G (p.Leu35Val)
|
rs201367689
|
0.00015
|
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
|
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile)
|
rs567130034
|
0.00015
|
|
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn)
|
rs746747614
|
0.00015
|
|
NM_000807.4(GABRA2):c.29T>C (p.Met10Thr)
|
rs200327122
|
0.00015
|
|
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)
|
rs367893541
|
0.00015
|
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
|
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu)
|
rs200508760
|
0.00015
|
|
NM_001077525.3(MTMR14):c.721G>A (p.Asp241Asn)
|
rs200924533
|
0.00015
|
|
NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val)
|
rs144242324
|
0.00015
|
|
NM_001098816.3(TENM4):c.6323A>G (p.Tyr2108Cys)
|
rs199597334
|
0.00015
|
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00015
|
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00015
|
|
NM_001136239.4(PRDM6):c.233C>G (p.Ser78Cys)
|
rs1031561952
|
0.00015
|
|
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His)
|
rs774090082
|
0.00015
|
|
NM_001142864.4(PIEZO1):c.3410C>T (p.Pro1137Leu)
|
rs745987597
|
0.00015
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
rs547120028
|
0.00015
|
|
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys)
|
rs201596787
|
0.00015
|
|
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)
|
rs199584268
|
0.00015
|
|
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782
|
0.00015
|
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00015
|
|
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser)
|
rs370615288
|
0.00015
|
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00015
|
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00015
|
|
NM_001267550.2(TTN):c.100267A>G (p.Lys33423Glu)
|
rs376528148
|
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.60734G>A (p.Arg20245Gln)
|
rs575837567
|
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_001283009.2(RTEL1):c.860C>T (p.Thr287Ile)
|
rs561054389
|
0.00015
|
|
NM_001291303.3(FAT4):c.10643A>G (p.Tyr3548Cys)
|
rs79726583
|
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_001355436.2(SPTB):c.2030G>A (p.Arg677His)
|
rs138774947
|
0.00015
|
|
NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr)
|
rs376325010
|
0.00015
|
|
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr)
|
rs143573353
|
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_001430.5(EPAS1):c.2342C>T (p.Pro781Leu)
|
rs199997193
|
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_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00015
|
|
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr)
|
rs751040647
|
0.00015
|
|
NM_001876.4(CPT1A):c.851G>A (p.Arg284His)
|
rs144866081
|
0.00015
|
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00015
|
|
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005
|
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_003126.4(SPTA1):c.4418C>T (p.Thr1473Met)
|
rs187916559
|
0.00015
|
|
NM_003235.5(TG):c.1273A>G (p.Met425Val)
|
rs759846480
|
0.00015
|
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
|
NM_003494.4(DYSF):c.1512A>T (p.Lys504Asn)
|
rs149066183
|
0.00015
|
|
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)
|
rs146262101
|
0.00015
|
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
|
NM_003922.4(HERC1):c.6140A>G (p.Asn2047Ser)
|
rs200898269
|
0.00015
|
|
NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln)
|
rs143817570
|
0.00015
|
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00015
|
|
NM_004260.4(RECQL4):c.92T>G (p.Val31Gly)
|
rs904809747
|
0.00015
|
|
NM_004285.4(H6PD):c.1514C>G (p.Ala505Gly)
|
rs140268072
|
0.00015
|
|
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser)
|
rs372022185
|
0.00015
|
|
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)
|
rs146291186
|
0.00015
|
|
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)
|
rs369810455
|
0.00015
|
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
|
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)
|
rs192345009
|
0.00015
|
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
|
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)
|
rs200901687
|
0.00015
|
|
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu)
|
rs371990100
|
0.00015
|
|
NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg)
|
rs149990515
|
0.00015
|
|
NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys)
|
rs150853451
|
0.00015
|
|
NM_005188.4(CBL):c.*6886G>A
|
rs542495083
|
0.00015
|
|
NM_005401.5(PTPN14):c.-154-42562G>A
|
rs190109909
|
0.00015
|
|
NM_005529.7(HSPG2):c.5486A>G (p.Asn1829Ser)
|
rs371550970
|
0.00015
|
|
NM_005559.4(LAMA1):c.415C>T (p.Arg139Cys)
|
rs199854892
|
0.00015
|
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
|
NM_005655.4(KLF10):c.80T>C (p.Met27Thr)
|
rs774628266
|
0.00015
|
|
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys)
|
rs138818971
|
0.00015
|
|
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp)
|
rs370009561
|
0.00015
|
|
NM_006734.4(HIVEP2):c.2740C>G (p.Pro914Ala)
|
rs199840563
|
0.00015
|
|
NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser)
|
rs141313736
|
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_012208.4(HARS2):c.1254G>C (p.Gln418His)
|
rs138090816
|
0.00015
|
|
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser)
|
rs199743727
|
0.00015
|
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00015
|
|
NM_014159.7(SETD2):c.2032G>A (p.Gly678Arg)
|
rs145499611
|
0.00015
|
|
NM_015080.4(NRXN2):c.1888G>A (p.Gly630Ser)
|
rs561880923
|
0.00015
|
|
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys)
|
rs546203218
|
0.00015
|
|
NM_017433.5(MYO3A):c.3398+3A>G
|
rs373758358
|
0.00015
|
|
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile)
|
rs143204063
|
0.00015
|
|
NM_017534.6(MYH2):c.1334G>A (p.Arg445His)
|
rs201040489
|
0.00015
|
|
NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu)
|
rs370580602
|
0.00015
|
|
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)
|
rs544816408
|
0.00015
|
|
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)
|
rs200363064
|
0.00015
|
|
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)
|
rs563243550
|
0.00015
|
|
NM_018489.3(ASH1L):c.154C>T (p.Arg52Trp)
|
rs199618784
|
0.00015
|
|
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val)
|
rs199797401
|
0.00015
|
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
|
NM_019023.5(PRMT7):c.1915T>C (p.Cys639Arg)
|
rs138108105
|
0.00015
|
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
|
NM_020374.4(FERRY3):c.766T>C (p.Ser256Pro)
|
rs139574944
|
0.00015
|
|
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
|
rs148936107
|
0.00015
|
|
NM_020971.3(SPTBN4):c.2426G>A (p.Arg809His)
|
rs748600268
|
0.00015
|
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
|
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)
|
rs201927283
|
0.00015
|
|
NM_021927.3(GUF1):c.514C>G (p.Gln172Glu)
|
rs116300982
|
0.00015
|
|
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu)
|
rs201494083
|
0.00015
|
|
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)
|
rs149418765
|
0.00015
|
|
NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)
|
rs371711306
|
0.00015
|
|
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
|
rs372908895
|
0.00015
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
rs758782317
|
0.00015
|
|
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)
|
rs147106166
|
0.00015
|
|
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His)
|
rs370252248
|
0.00015
|
|
NM_033225.6(CSMD1):c.5498T>C (p.Ile1833Thr)
|
rs183360249
|
0.00015
|
|
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
|
rs139940512
|
0.00015
|
|
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
|
rs375920609
|
0.00015
|
|
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
|
rs370566687
|
0.00015
|
|
NM_152305.3(POGLUT1):c.362G>A (p.Arg121His)
|
rs147674217
|
0.00015
|
|
NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His)
|
rs372070386
|
0.00015
|
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
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_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)
|
rs375577011
|
0.00015
|
|
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
|
rs76410834
|
0.00015
|
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
|
NM_182961.4(SYNE1):c.16711-1398C>T
|
rs544381935
|
0.00015
|
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00015
|
|
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)
|
rs558046278
|
0.00015
|
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00015
|
|
NM_198407.2(GHSR):c.755C>T (p.Ser252Leu)
|
rs200367696
|
0.00015
|
|
NM_198503.5(KCNT2):c.1561G>A (p.Val521Ile)
|
rs200217178
|
0.00015
|
|
NM_198576.4(AGRN):c.2666C>T (p.Ala889Val)
|
rs532395667
|
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.3293C>T (p.Thr1098Met)
|
rs377368835
|
0.00015
|
|
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)
|
rs200652637
|
0.00015
|
|
NM_201384.3(PLEC):c.8497G>A (p.Gly2833Ser)
|
rs782099953
|
0.00015
|
|
NM_201384.3(PLEC):c.8981G>A (p.Arg2994His)
|
rs200970115
|
0.00015
|
|
NM_203290.4(POLR1C):c.69+5G>A
|
rs376407272
|
0.00015
|
|
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln)
|
rs764094155
|
0.00014
|
|
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
|
rs199975878
|
0.00014
|
|
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)
|
rs376112375
|
0.00014
|
|
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
|
rs141312203
|
0.00014
|
|
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)
|
rs148371004
|
0.00014
|
|
NM_000083.3(CLCN1):c.*29C>A
|
rs202172391
|
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_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
|
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)
|
rs776498025
|
0.00014
|
|
NM_000157.4(GBA1):c.1279G>A (p.Glu427Lys)
|
rs149171124
|
0.00014
|
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
|
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)
|
rs142587038
|
0.00014
|
|
NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val)
|
rs147291222
|
0.00014
|
|
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)
|
rs370971334
|
0.00014
|
|
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)
|
rs141950826
|
0.00014
|
|
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)
|
rs143664472
|
0.00014
|
|
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)
|
rs780695627
|
0.00014
|
|
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His)
|
rs151285465
|
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_000540.3(RYR1):c.9634G>A (p.Glu3212Lys)
|
rs185371036
|
0.00014
|
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
|
NM_000682.7(ADRA2B):c.1093C>T (p.Arg365Trp)
|
rs571112964
|
0.00014
|
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
|
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln)
|
rs142992853
|
0.00014
|
|
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)
|
rs202155679
|
0.00014
|
|
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)
|
rs146049441
|
0.00014
|
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
|
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)
|
rs145832952
|
0.00014
|
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
|
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln)
|
rs568814745
|
0.00014
|
|
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)
|
rs369957704
|
0.00014
|
|
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)
|
rs376194864
|
0.00014
|
|
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr)
|
rs368328716
|
0.00014
|
|
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn)
|
rs562175196
|
0.00014
|
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00014
|
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00014
|
|
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)
|
rs774604596
|
0.00014
|
|
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu)
|
rs370378060
|
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.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.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_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
|
NM_001304548.2(CFAP47):c.6709G>A (p.Val2237Ile)
|
rs782341938
|
0.00014
|
|
NM_001363711.2(DUOX2):c.3175C>T (p.Arg1059Cys)
|
rs145502900
|
0.00014
|
|
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)
|
rs149338478
|
0.00014
|
|
NM_001378457.1(DMXL2):c.5974G>A (p.Asp1992Asn)
|
rs144241909
|
0.00014
|
|
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met)
|
rs201116208
|
0.00014
|
|
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)
|
rs199521775
|
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_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
|
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)
|
rs200959957
|
0.00014
|
|
NM_001922.5(DCT):c.100A>C (p.Ser34Arg)
|
rs567859263
|
0.00014
|
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
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_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_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala)
|
rs781781950
|
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_004369.4(COL6A3):c.2195C>T (p.Thr732Met)
|
rs370719148
|
0.00014
|
|
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
|
rs367630003
|
0.00014
|
|
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)
|
rs201874248
|
0.00014
|
|
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile)
|
rs376602004
|
0.00014
|
|
NM_004628.5(XPC):c.259G>C (p.Val87Leu)
|
rs374572265
|
0.00014
|
|
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)
|
rs184647895
|
0.00014
|
|
NM_004946.3(DOCK2):c.2635G>A (p.Val879Ile)
|
rs150884555
|
0.00014
|
|
NM_004963.4(GUCY2C):c.932C>T (p.Ser311Phe)
|
rs182758587
|
0.00014
|
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
|
NM_005138.3(SCO2):c.303G>C (p.Gln101His)
|
rs141551295
|
0.00014
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
rs774115156
|
0.00014
|
|
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)
|
rs570850437
|
0.00014
|
|
NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His)
|
rs145943896
|
0.00014
|
|
NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val)
|
rs371812575
|
0.00014
|
|
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)
|
rs144993516
|
0.00014
|
|
NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu)
|
rs782019621
|
0.00014
|
|
NM_006059.4(LAMC3):c.1217C>T (p.Thr406Met)
|
rs374994541
|
0.00014
|
|
NM_006383.4(CIB2):c.238G>A (p.Glu80Lys)
|
rs201372164
|
0.00014
|
|
NM_006446.5(SLCO1B1):c.170G>A (p.Arg57Gln)
|
rs61760182
|
0.00014
|
|
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)
|
rs146426896
|
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_015354.3(NUP188):c.1900C>T (p.Arg634Cys)
|
rs779341005
|
0.00014
|
|
NM_016139.4(CHCHD2):c.101C>T (p.Pro34Leu)
|
rs371198317
|
0.00014
|
|
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly)
|
rs139212712
|
0.00014
|
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
|
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)
|
rs200335347
|
0.00014
|
|
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro)
|
rs750401200
|
0.00014
|
|
NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp)
|
rs201413329
|
0.00014
|
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
|
NM_032551.5(KISS1R):c.1061C>G (p.Ser354Trp)
|
rs961267673
|
0.00014
|
|
NM_033310.3(KCNK4):c.437T>C (p.Leu146Pro)
|
rs764383329
|
0.00014
|
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00014
|
|
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)
|
rs762033637
|
0.00014
|
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00014
|
|
NM_172095.4(CATSPER2):c.1492C>T (p.Arg498Ter)
|
rs377026307
|
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.1622A>G (p.Gln541Arg)
|
rs532911105
|
0.00014
|
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
|
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)
|
rs140962690
|
0.00014
|
|
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser)
|
rs145518327
|
0.00014
|
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
|
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala)
|
rs146965313
|
0.00014
|
|
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn)
|
rs772627014
|
0.00014
|
|
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val)
|
rs146402274
|
0.00014
|
|
NM_201384.3(PLEC):c.10010C>T (p.Thr3337Met)
|
rs201699314
|
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.1957G>A (p.Ala653Thr)
|
rs368435908
|
0.00014
|
|
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)
|
rs369344419
|
0.00014
|
|
NM_201384.3(PLEC):c.2839G>A (p.Gly947Arg)
|
rs367695725
|
0.00014
|
|
NM_201384.3(PLEC):c.4709C>T (p.Ala1570Val)
|
rs782096342
|
0.00014
|
|
NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr)
|
rs141723283
|
0.00014
|
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
|
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser)
|
rs373262677
|
0.00013
|
|
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
|
rs376407187
|
0.00013
|
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
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_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)
|
rs757968612
|
0.00013
|
|
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)
|
rs142735836
|
0.00013
|
|
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
|
rs867235828
|
0.00013
|
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
|
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00013
|
|
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe)
|
rs375109382
|
0.00013
|
|
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)
|
rs199893058
|
0.00013
|
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00013
|
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
|
NM_000188.3(HK1):c.2633C>T (p.Thr878Met)
|
rs150481224
|
0.00013
|
|
NM_000196.4(HSD11B2):c.512A>G (p.Asn171Ser)
|
rs138853656
|
0.00013
|
|
NM_000199.5(SGSH):c.19G>A (p.Ala7Thr)
|
rs548145029
|
0.00013
|
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
|
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)
|
rs201439705
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
|
NM_000304.4(PMP22):c.152A>G (p.His51Arg)
|
rs368908933
|
0.00013
|
|
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)
|
rs147936148
|
0.00013
|
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00013
|
|
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys)
|
rs28929480
|
0.00013
|
|
NM_000426.4(LAMA2):c.2881G>A (p.Ala961Thr)
|
rs147301872
|
0.00013
|
|
NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu)
|
rs189360899
|
0.00013
|
|
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)
|
rs111033527
|
0.00013
|
|
NM_000476.3(AK1):c.78G>C (p.Glu26Asp)
|
rs140001307
|
0.00013
|
|
NM_000522.5(HOXA13):c.196G>T (p.Ala66Ser)
|
rs773516831
|
0.00013
|
|
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)
|
rs199673719
|
0.00013
|
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
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_000540.3(RYR1):c.9466G>A (p.Val3156Ile)
|
rs150230127
|
0.00013
|
|
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn)
|
rs201080180
|
0.00013
|
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00013
|
|
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)
|
rs368695808
|
0.00013
|
|
NM_000751.3(CHRND):c.305G>A (p.Arg102His)
|
rs147919651
|
0.00013
|
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
|
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522
|
0.00013
|
|
NM_001012614.2(CTBP1):c.679G>A (p.Gly227Ser)
|
rs750734000
|
0.00013
|
|
NM_001062.4(TCN1):c.337A>G (p.Ile113Val)
|
rs199557500
|
0.00013
|
|
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu)
|
rs201605654
|
0.00013
|
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
|
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys)
|
rs202126749
|
0.00013
|
|
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)
|
rs1358370392
|
0.00013
|
|
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)
|
rs139194093
|
0.00013
|
|
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser)
|
rs375068646
|
0.00013
|
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
|
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)
|
rs570130189
|
0.00013
|
|
NM_001142864.4(PIEZO1):c.5638G>T (p.Gly1880Cys)
|
rs1458818902
|
0.00013
|
|
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser)
|
rs373800371
|
0.00013
|
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
|
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)
|
rs368150737
|
0.00013
|
|
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449
|
0.00013
|
|
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102
|
0.00013
|
|
NM_001164508.2(NEB):c.1924A>G (p.Thr642Ala)
|
rs370924370
|
0.00013
|
|
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)
|
rs370810654
|
0.00013
|
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
|
NM_001164508.2(NEB):c.9195C>T (p.His3065=)
|
rs374734631
|
0.00013
|
|
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His)
|
rs111841612
|
0.00013
|
|
NM_001199563.2(POPDC1):c.932G>A (p.Arg311Gln)
|
rs541771381
|
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.23675T>C (p.Ile7892Thr)
|
rs201181445
|
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.27715T>C (p.Tyr9239His)
|
rs373068293
|
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.95245G>A (p.Glu31749Lys)
|
rs139542862
|
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_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg)
|
rs200627657
|
0.00013
|
|
NM_001353812.2(ATP11C):c.2114T>C (p.Ile705Thr)
|
rs145685259
|
0.00013
|
|
NM_001358921.2(COQ2):c.-23C>G
|
rs368891722
|
0.00013
|
|
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr)
|
rs566858747
|
0.00013
|
|
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile)
|
rs201197899
|
0.00013
|
|
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)
|
rs201500946
|
0.00013
|
|
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)
|
rs145969842
|
0.00013
|
|
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)
|
rs371193436
|
0.00013
|
|
NM_001369369.1(FOXN1):c.724C>T (p.Pro242Ser)
|
rs140921495
|
0.00013
|
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
|
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro)
|
rs373929015
|
0.00013
|
|
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile)
|
rs139654849
|
0.00013
|
|
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
|
rs141595341
|
0.00013
|
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
|
NM_001385875.1(ZFYVE27):c.815C>T (p.Pro272Leu)
|
rs143634539
|
0.00013
|
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00013
|
|
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn)
|
rs575394639
|
0.00013
|
|
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp)
|
rs146622557
|
0.00013
|
|
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp)
|
rs777822883
|
0.00013
|
|
NM_001849.4(COL6A2):c.542G>A (p.Arg181His)
|
rs371640468
|
0.00013
|
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00013
|
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00013
|
|
NM_002206.3(ITGA7):c.517C>T (p.Arg173Trp)
|
rs368130279
|
0.00013
|
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00013
|
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
|
NM_003331.5(TYK2):c.821G>A (p.Arg274His)
|
rs371937276
|
0.00013
|
|
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)
|
rs143250889
|
0.00013
|
|
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)
|
rs372312912
|
0.00013
|
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
|
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro)
|
rs535692036
|
0.00013
|
|
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg)
|
rs144453491
|
0.00013
|
|
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)
|
rs117350233
|
0.00013
|
|
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)
|
rs143751880
|
0.00013
|
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00013
|
|
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)
|
rs369449472
|
0.00013
|
|
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)
|
rs372154635
|
0.00013
|
|
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)
|
rs116608946
|
0.00013
|
|
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu)
|
rs145572916
|
0.00013
|
|
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)
|
rs370246962
|
0.00013
|
|
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)
|
rs377223474
|
0.00013
|
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
|
NM_004667.6(HERC2):c.14015C>T (p.Thr4672Met)
|
rs144912188
|
0.00013
|
|
NM_005529.7(HSPG2):c.10351C>T (p.Leu3451Phe)
|
rs542598107
|
0.00013
|
|
NM_005529.7(HSPG2):c.12412G>A (p.Asp4138Asn)
|
rs373674942
|
0.00013
|
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00013
|
|
NM_005529.7(HSPG2):c.1546G>A (p.Ala516Thr)
|
rs147557804
|
0.00013
|
|
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp)
|
rs373299826
|
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_005529.7(HSPG2):c.6011G>A (p.Arg2004His)
|
rs139926503
|
0.00013
|
|
NM_005529.7(HSPG2):c.8962G>A (p.Glu2988Lys)
|
rs760286913
|
0.00013
|
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
|
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
|
rs201834329
|
0.00013
|
|
NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys)
|
rs200040098
|
0.00013
|
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
|
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg)
|
rs562480894
|
0.00013
|
|
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)
|
rs375644526
|
0.00013
|
|
NM_007315.4(STAT1):c.1363G>A (p.Val455Ile)
|
rs371982540
|
0.00013
|
|
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly)
|
rs550420394
|
0.00013
|
|
NM_015001.3(SPEN):c.3886C>G (p.Pro1296Ala)
|
rs141182991
|
0.00013
|
|
NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)
|
rs72996036
|
0.00013
|
|
NM_015295.3(SMCHD1):c.1086A>G (p.Ile362Met)
|
rs201408220
|
0.00013
|
|
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)
|
rs201637813
|
0.00013
|
|
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)
|
rs149512747
|
0.00013
|
|
NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)
|
rs568558844
|
0.00013
|
|
NM_019077.3(UGT1A7):c.760C>T (p.Arg254Ter)
|
rs201879946
|
0.00013
|
|
NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile)
|
rs369529563
|
0.00013
|
|
NM_020151.4(STARD7):c.542A>G (p.Asn181Ser)
|
rs150385509
|
0.00013
|
|
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)
|
rs377518118
|
0.00013
|
|
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
|
rs115306084
|
0.00013
|
|
NM_022051.3(EGLN1):c.41G>A (p.Ser14Asn)
|
rs761497751
|
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_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln)
|
rs143265363
|
0.00013
|
|
NM_032608.7(MYO18B):c.2396C>T (p.Ala799Val)
|
rs200926549
|
0.00013
|
|
NM_032608.7(MYO18B):c.7024G>A (p.Glu2342Lys)
|
rs370531504
|
0.00013
|
|
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)
|
rs551818122
|
0.00013
|
|
NM_033282.4(OPN4):c.970G>A (p.Ala324Thr)
|
rs574631617
|
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_138477.4(CDAN1):c.1822C>T (p.Pro608Ser)
|
rs146810840
|
0.00013
|
|
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
|
rs200617228
|
0.00013
|
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
|
NM_138927.4(SON):c.5200G>A (p.Val1734Met)
|
rs146053621
|
0.00013
|
|
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter)
|
rs142487599
|
0.00013
|
|
NM_173660.5(DOK7):c.752C>T (p.Ala251Val)
|
rs376251309
|
0.00013
|
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
|
NM_182914.3(SYNE2):c.17038C>T (p.Arg5680Trp)
|
rs143377752
|
0.00013
|
|
NM_182925.5(FLT4):c.1415G>A (p.Arg472His)
|
rs143813005
|
0.00013
|
|
NM_182961.4(SYNE1):c.13300G>A (p.Val4434Met)
|
rs141609675
|
0.00013
|
|
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly)
|
rs201366911
|
0.00013
|
|
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro)
|
rs375773340
|
0.00013
|
|
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)
|
rs144797998
|
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.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
|
NM_201384.3(PLEC):c.1063C>T (p.Leu355Phe)
|
rs200260527
|
0.00013
|
|
NM_201384.3(PLEC):c.10936C>T (p.Arg3646Cys)
|
rs202175941
|
0.00013
|
|
NM_201384.3(PLEC):c.10999C>T (p.Arg3667Trp)
|
rs373318830
|
0.00013
|
|
NM_201384.3(PLEC):c.1301G>A (p.Arg434Gln)
|
rs201336009
|
0.00013
|
|
NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu)
|
rs574054664
|
0.00013
|
|
NM_201384.3(PLEC):c.2462C>T (p.Thr821Ile)
|
rs200686790
|
0.00013
|
|
NM_201384.3(PLEC):c.2699G>A (p.Arg900His)
|
rs376953993
|
0.00013
|
|
NM_201384.3(PLEC):c.4715G>A (p.Arg1572His)
|
rs782278619
|
0.00013
|
|
NM_201384.3(PLEC):c.5674G>A (p.Glu1892Lys)
|
rs201075382
|
0.00013
|
|
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)
|
rs564245730
|
0.00013
|
|
NM_201384.3(PLEC):c.6278C>T (p.Ala2093Val)
|
rs782190474
|
0.00013
|
|
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His)
|
rs368343687
|
0.00013
|
|
NM_201384.3(PLEC):c.8033C>T (p.Thr2678Met)
|
rs201093335
|
0.00013
|
|
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met)
|
rs368122904
|
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_203447.4(DOCK8):c.1588G>A (p.Val530Met)
|
rs373187839
|
0.00013
|
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00013
|
|
NM_213599.3(ANO5):c.-1G>A
|
rs138260594
|
0.00013
|
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00012
|
|
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
|
rs373965109
|
0.00012
|
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
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_000124.4(ERCC6):c.2081C>T (p.Pro694Leu)
|
rs114852424
|
0.00012
|
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
|
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)
|
rs143110015
|
0.00012
|
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00012
|
|
NM_000342.4(SLC4A1):c.1090T>G (p.Leu364Val)
|
rs144927348
|
0.00012
|
|
NM_000426.4(LAMA2):c.2132A>G (p.Tyr711Cys)
|
rs201122410
|
0.00012
|
|
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)
|
rs139824017
|
0.00012
|
|
NM_000444.6(PHEX):c.185C>T (p.Ala62Val)
|
rs145393882
|
0.00012
|
|
NM_000476.3(AK1):c.409G>A (p.Gly137Arg)
|
rs7032134
|
0.00012
|
|
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)
|
rs147515913
|
0.00012
|
|
NM_001004311.3(FIGLA):c.11C>A (p.Ala4Glu)
|
rs71647803
|
0.00012
|
|
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile)
|
rs190112934
|
0.00012
|
|
NM_001080517.3(SETD5):c.3458C>T (p.Ser1153Leu)
|
rs536823549
|
0.00012
|
|
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)
|
rs369832637
|
0.00012
|
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
|
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)
|
rs200487610
|
0.00012
|
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00012
|
|
NM_001135254.2(PAX7):c.1234G>A (p.Gly412Ser)
|
rs144861509
|
0.00012
|
|
NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro)
|
rs368111443
|
0.00012
|
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
|
NM_001145715.3(KPNA7):c.73C>T (p.Arg25Ter)
|
rs571947684
|
0.00012
|
|
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr)
|
rs556492694
|
0.00012
|
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
|
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys)
|
rs1346076883
|
0.00012
|
|
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)
|
rs372804439
|
0.00012
|
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00012
|
|
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974
|
0.00012
|
|
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn)
|
rs780626863
|
0.00012
|
|
NM_001164508.2(NEB):c.853A>G (p.Ile285Val)
|
rs773114380
|
0.00012
|
|
NM_001205293.3(CACNA1E):c.2405C>T (p.Ala802Val)
|
rs374689888
|
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.36737A>T (p.Glu12246Val)
|
rs786205395
|
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.92170G>C (p.Gly30724Arg)
|
rs370928582
|
0.00012
|
|
NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val)
|
rs775147653
|
0.00012
|
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00012
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
0.00012
|
|
NM_001330574.2(ZNF711):c.416G>A (p.Gly139Glu)
|
rs367654949
|
0.00012
|
|
NM_001355436.2(SPTB):c.2479C>T (p.Arg827Trp)
|
rs201451634
|
0.00012
|
|
NM_001367498.1(CNTNAP5):c.3505G>A (p.Val1169Ile)
|
rs375640846
|
0.00012
|
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
|
NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met)
|
rs369118592
|
0.00012
|
|
NM_001563.4(IMPG1):c.1545G>A (p.Met515Ile)
|
rs376133758
|
0.00012
|
|
NM_001690.4(ATP6V1A):c.1688A>G (p.Asn563Ser)
|
rs375296671
|
0.00012
|
|
NM_001845.6(COL4A1):c.2560A>G (p.Thr854Ala)
|
rs756949024
|
0.00012
|
|
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)
|
rs377455608
|
0.00012
|
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00012
|
|
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn)
|
rs138276378
|
0.00012
|
|
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)
|
rs141579198
|
0.00012
|
|
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)
|
rs199955442
|
0.00012
|
|
NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala)
|
rs200107269
|
0.00012
|
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
|
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)
|
rs1246114252
|
0.00012
|
|
NM_003126.4(SPTA1):c.3670C>T (p.Arg1224Trp)
|
rs567984472
|
0.00012
|
|
NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)
|
rs374774131
|
0.00012
|
|
NM_003466.4(PAX8):c.346G>A (p.Val116Ile)
|
rs764623767
|
0.00012
|
|
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys)
|
rs199871508
|
0.00012
|
|
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile)
|
rs762287154
|
0.00012
|
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
|
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)
|
rs144501019
|
0.00012
|
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
|
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp)
|
rs143074017
|
0.00012
|
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
|
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)
|
rs199692759
|
0.00012
|
|
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg)
|
rs369180031
|
0.00012
|
|
NM_004409.5(DMPK):c.628C>T (p.Arg210Cys)
|
rs530588467
|
0.00012
|
|
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val)
|
rs143886947
|
0.00012
|
|
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser)
|
rs147707402
|
0.00012
|
|
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)
|
rs201491948
|
0.00012
|
|
NM_006080.3(SEMA3A):c.1910G>A (p.Arg637His)
|
rs766918295
|
0.00012
|
|
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)
|
rs181854060
|
0.00012
|
|
NM_012210.4(TRIM32):c.863C>A (p.Pro288His)
|
rs367574371
|
0.00012
|
|
NM_012470.4(TNPO3):c.857G>A (p.Arg286His)
|
rs140709222
|
0.00012
|
|
NM_016148.5(SHANK1):c.101G>A (p.Gly34Asp)
|
rs768176382
|
0.00012
|
|
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp)
|
rs374541202
|
0.00012
|
|
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)
|
rs202198533
|
0.00012
|
|
NM_018714.3(COG1):c.559C>T (p.Arg187Trp)
|
rs372706594
|
0.00012
|
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
rs150783093
|
0.00012
|
|
NM_022173.4(TIA1):c.1078G>A (p.Val360Met)
|
rs201905164
|
0.00012
|
|
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu)
|
rs782036233
|
0.00012
|
|
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)
|
rs587778575
|
0.00012
|
|
NM_024649.5(BBS1):c.480-28G>C
|
rs200532823
|
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_032608.7(MYO18B):c.1675G>A (p.Glu559Lys)
|
rs117243697
|
0.00012
|
|
NM_032833.5(PPP1R15B):c.644A>G (p.Asn215Ser)
|
rs199600980
|
0.00012
|
|
NM_058246.4(DNAJB6):c.702C>G (p.Asp234Glu)
|
rs568383912
|
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_173630.4(RTTN):c.2318C>T (p.Ser773Leu)
|
rs375642538
|
0.00012
|
|
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)
|
rs375497206
|
0.00012
|
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00012
|
|
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)
|
rs773536890
|
0.00012
|
|
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)
|
rs138509817
|
0.00012
|
|
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His)
|
rs139175290
|
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.10931G>A (p.Arg3644His)
|
rs368249132
|
0.00012
|
|
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)
|
rs199651668
|
0.00012
|
|
NM_201384.3(PLEC):c.2410C>T (p.Arg804Trp)
|
rs201194946
|
0.00012
|
|
NM_201384.3(PLEC):c.254G>A (p.Gly85Glu)
|
rs373064570
|
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_201384.3(PLEC):c.5825C>T (p.Ala1942Val)
|
rs372179538
|
0.00012
|
|
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg)
|
rs373741981
|
0.00012
|
|
NM_203447.4(DOCK8):c.4474-26C>T
|
rs188194675
|
0.00012
|
|
NM_213599.3(ANO5):c.2273G>A (p.Arg758His)
|
rs369058382
|
0.00012
|
|
NM_213649.2(SFXN4):c.677C>T (p.Ala226Val)
|
rs151157939
|
0.00012
|
|
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
|
rs143583425
|
0.00011
|
|
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp)
|
rs143596876
|
0.00011
|
|
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)
|
rs187054121
|
0.00011
|
|
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile)
|
rs368585092
|
0.00011
|
|
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His)
|
rs376844505
|
0.00011
|
|
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)
|
rs755802710
|
0.00011
|
|
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
|
rs369676722
|
0.00011
|
|
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln)
|
rs558162561
|
0.00011
|
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
|
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00011
|
|
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp)
|
rs376026619
|
0.00011
|
|
NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)
|
rs138094082
|
0.00011
|
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00011
|
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
|
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)
|
rs143621769
|
0.00011
|
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
|
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser)
|
rs377071680
|
0.00011
|
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
|
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)
|
rs782217375
|
0.00011
|
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
|
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)
|
rs45464193
|
0.00011
|
|
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)
|
rs777168937
|
0.00011
|
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
|
NM_000324.3(RHAG):c.145G>C (p.Glu49Gln)
|
rs141969178
|
0.00011
|
|
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys)
|
rs368011562
|
0.00011
|
|
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg)
|
rs200025736
|
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_000337.6(SGCD):c.755C>T (p.Thr252Met)
|
rs199520526
|
0.00011
|
|
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)
|
rs140604077
|
0.00011
|
|
NM_000426.4(LAMA2):c.4462G>A (p.Gly1488Arg)
|
rs200961385
|
0.00011
|
|
NM_000426.4(LAMA2):c.4498G>A (p.Gly1500Arg)
|
rs776889674
|
0.00011
|
|
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=)
|
rs143078882
|
0.00011
|
|
NM_000426.4(LAMA2):c.5327T>C (p.Leu1776Pro)
|
rs200123250
|
0.00011
|
|
NM_000426.4(LAMA2):c.533C>T (p.Thr178Met)
|
rs148665727
|
0.00011
|
|
NM_000426.4(LAMA2):c.8147G>A (p.Arg2716His)
|
rs142781107
|
0.00011
|
|
NM_000426.4(LAMA2):c.8357G>A (p.Arg2786His)
|
rs767988083
|
0.00011
|
|
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)
|
rs143638361
|
0.00011
|
|
NM_000428.3(LTBP2):c.5086G>A (p.Gly1696Ser)
|
rs372747742
|
0.00011
|
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00011
|
|
NM_000537.4(REN):c.443G>A (p.Arg148His)
|
rs371704012
|
0.00011
|
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
|
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val)
|
rs755651622
|
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_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
|
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)
|
rs141651499
|
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_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
|
rs202140413
|
0.00011
|
|
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)
|
rs201999820
|
0.00011
|
|
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)
|
rs202108204
|
0.00011
|
|
NM_001128225.3(SLC39A13):c.302-3T>C
|
rs371414744
|
0.00011
|
|
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu)
|
rs562206142
|
0.00011
|
|
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)
|
rs374203339
|
0.00011
|
|
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)
|
rs371609233
|
0.00011
|
|
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met)
|
rs144634077
|
0.00011
|
|
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)
|
rs149732545
|
0.00011
|
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
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.2392G>A (p.Val798Ile)
|
rs931204966
|
0.00011
|
|
NM_001142864.4(PIEZO1):c.3395C>G (p.Thr1132Ser)
|
rs767222696
|
0.00011
|
|
NM_001142864.4(PIEZO1):c.440G>A (p.Arg147Gln)
|
rs1021076058
|
0.00011
|
|
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys)
|
rs148943578
|
0.00011
|
|
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys)
|
rs200462308
|
0.00011
|
|
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)
|
rs200585609
|
0.00011
|
|
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys)
|
rs368383341
|
0.00011
|
|
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu)
|
rs373829936
|
0.00011
|
|
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744
|
0.00011
|
|
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683
|
0.00011
|
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
|
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732
|
0.00011
|
|
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)
|
rs377443184
|
0.00011
|
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00011
|
|
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)
|
rs376609115
|
0.00011
|
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
|
NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly)
|
rs141240053
|
0.00011
|
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
|
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)
|
rs928041091
|
0.00011
|
|
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)
|
rs201758329
|
0.00011
|
|
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile)
|
rs369283016
|
0.00011
|
|
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys)
|
rs368965372
|
0.00011
|
|
NM_001170535.3(ATAD3A):c.563G>A (p.Arg188Gln)
|
rs145950590
|
0.00011
|
|
NM_001194998.2(CEP152):c.620C>T (p.Ser207Leu)
|
rs754777587
|
0.00011
|
|
NM_001199563.2(POPDC1):c.74T>C (p.Ile25Thr)
|
rs138310935
|
0.00011
|
|
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys)
|
rs150295715
|
0.00011
|
|
NM_001256012.3(MYH10):c.4981G>A (p.Glu1661Lys)
|
rs77768450
|
0.00011
|
|
NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser)
|
rs371448615
|
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.22091G>A (p.Arg7364Gln)
|
rs200128066
|
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.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
|
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val)
|
rs764249439
|
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.53590A>G (p.Thr17864Ala)
|
rs375309278
|
0.00011
|
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00011
|
|
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)
|
rs201194435
|
0.00011
|
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
|
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr)
|
rs727505276
|
0.00011
|
|
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)
|
rs775137607
|
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.7618C>T (p.Arg2540Cys)
|
rs368574470
|
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.81869G>C (p.Gly27290Ala)
|
rs200240728
|
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.89066G>A (p.Arg29689His)
|
rs368634670
|
0.00011
|
|
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)
|
rs138958733
|
0.00011
|
|
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)
|
rs544353741
|
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.95083G>A (p.Gly31695Arg)
|
rs376403373
|
0.00011
|
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
|
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr)
|
rs876658096
|
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_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)
|
rs552249954
|
0.00011
|
|
NM_001278716.2(FBXL4):c.1390-2172C>T
|
rs193059175
|
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_001355436.2(SPTB):c.4597C>T (p.Arg1533Trp)
|
rs140301241
|
0.00011
|
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00011
|
|
NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu)
|
rs112570445
|
0.00011
|
|
NM_001407.3(CELSR3):c.5393C>T (p.Thr1798Met)
|
rs199823601
|
0.00011
|
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
|
NM_001711.6(BGN):c.838C>T (p.Arg280Trp)
|
rs370486954
|
0.00011
|
|
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr)
|
rs149392243
|
0.00011
|
|
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)
|
rs756141940
|
0.00011
|
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
|
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys)
|
rs369344885
|
0.00011
|
|
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val)
|
rs376665722
|
0.00011
|
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
|
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser)
|
rs147054208
|
0.00011
|
|
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)
|
rs145352569
|
0.00011
|
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
|
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)
|
rs148261223
|
0.00011
|
|
NM_002150.3(HPD):c.198+3G>A
|
rs376112963
|
0.00011
|
|
NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met)
|
rs55654066
|
0.00011
|
|
NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg)
|
rs770066237
|
0.00011
|
|
NM_002474.3(MYH11):c.3209A>G (p.Gln1070Arg)
|
rs147848256
|
0.00011
|
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
|
NM_002526.4(NT5E):c.965C>T (p.Ala322Val)
|
rs570714428
|
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_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00011
|
|
NM_003126.4(SPTA1):c.1342C>T (p.Arg448Trp)
|
rs199930162
|
0.00011
|
|
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg)
|
rs121918644
|
0.00011
|
|
NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys)
|
rs372067263
|
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_003673.4(TCAP):c.209G>A (p.Arg70Gln)
|
rs552865793
|
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_004281.4(BAG3):c.508C>T (p.Arg170Trp)
|
rs200479768
|
0.00011
|
|
NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile)
|
rs200092983
|
0.00011
|
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
|
NM_004369.4(COL6A3):c.8665C>A (p.Pro2889Thr)
|
rs1352944056
|
0.00011
|
|
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)
|
rs777544552
|
0.00011
|
|
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe)
|
rs141725839
|
0.00011
|
|
NM_005228.5(EGFR):c.61G>A (p.Ala21Thr)
|
rs373129709
|
0.00011
|
|
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)
|
rs138955932
|
0.00011
|
|
NM_005529.7(HSPG2):c.12001G>A (p.Val4001Ile)
|
rs985624091
|
0.00011
|
|
NM_005529.7(HSPG2):c.2890A>T (p.Thr964Ser)
|
rs557553229
|
0.00011
|
|
NM_005529.7(HSPG2):c.4681G>A (p.Glu1561Lys)
|
rs372608187
|
0.00011
|
|
NM_005529.7(HSPG2):c.8212G>A (p.Val2738Met)
|
rs144862631
|
0.00011
|
|
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln)
|
rs146428410
|
0.00011
|
|
NM_005529.7(HSPG2):c.9412G>A (p.Gly3138Arg)
|
rs201958429
|
0.00011
|
|
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr)
|
rs587780140
|
0.00011
|
|
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)
|
rs191581729
|
0.00011
|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
rs201389731
|
0.00011
|
|
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu)
|
rs372851103
|
0.00011
|
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
|
NM_005677.4(COLQ):c.812C>T (p.Ala271Val)
|
rs373735085
|
0.00011
|
|
NM_005751.5(AKAP9):c.9689A>G (p.Lys3230Arg)
|
rs192845338
|
0.00011
|
|
NM_005918.4(MDH2):c.376G>A (p.Ala126Thr)
|
rs371141951
|
0.00011
|
|
NM_006158.5(NEFL):c.579G>A (p.Met193Ile)
|
rs367943135
|
0.00011
|
|
NM_006182.4(DDR2):c.784G>A (p.Glu262Lys)
|
rs371402503
|
0.00011
|
|
NM_006236.3(POU3F3):c.722G>C (p.Gly241Ala)
|
rs1160192690
|
0.00011
|
|
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp)
|
rs555883522
|
0.00011
|
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
|
NM_007126.5(VCP):c.811+2T>C
|
rs539851936
|
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.578A>G (p.Gln193Arg)
|
rs373233387
|
0.00011
|
|
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln)
|
rs371043332
|
0.00011
|
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
|
NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys)
|
rs368905425
|
0.00011
|
|
NM_014211.3(GABRP):c.1126G>A (p.Asp376Asn)
|
rs140851768
|
0.00011
|
|
NM_014319.5(LEMD3):c.2263G>A (p.Asp755Asn)
|
rs142542896
|
0.00011
|
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
0.00011
|
|
NM_015062.5(PPRC1):c.1825C>T (p.Pro609Ser)
|
rs199855399
|
0.00011
|
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
|
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His)
|
rs139364730
|
0.00011
|
|
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile)
|
rs184494954
|
0.00011
|
|
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp)
|
rs199672693
|
0.00011
|
|
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser)
|
rs140846775
|
0.00011
|
|
NM_017752.3(TBC1D8B):c.1165G>A (p.Gly389Arg)
|
rs752393362
|
0.00011
|
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
|
NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn)
|
rs199815125
|
0.00011
|
|
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg)
|
rs201679731
|
0.00011
|
|
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)
|
rs144969324
|
0.00011
|
|
NM_018489.3(ASH1L):c.7598G>A (p.Arg2533His)
|
rs138122556
|
0.00011
|
|
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
|
rs539364383
|
0.00011
|
|
NM_020041.3(SLC2A9):c.1369G>A (p.Val457Ile)
|
rs200305429
|
0.00011
|
|
NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr)
|
rs374358848
|
0.00011
|
|
NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly)
|
rs765640246
|
0.00011
|
|
NM_020451.3(SELENON):c.1388-3C>T
|
rs754894330
|
0.00011
|
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
|
NM_020745.4(AARS2):c.1438C>T (p.Arg480Trp)
|
rs201164609
|
0.00011
|
|
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg)
|
rs367667489
|
0.00011
|
|
NM_021008.4(DEAF1):c.959A>G (p.Lys320Arg)
|
rs148536538
|
0.00011
|
|
NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)
|
rs749450607
|
0.00011
|
|
NM_021971.4(GMPPB):c.956G>A (p.Arg319His)
|
rs768327938
|
0.00011
|
|
NM_022464.5(SIL1):c.103C>G (p.Leu35Val)
|
rs759591537
|
0.00011
|
|
NM_022817.3(PER2):c.2542G>A (p.Ala848Thr)
|
rs371340240
|
0.00011
|
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
|
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)
|
rs753297636
|
0.00011
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
0.00011
|
|
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly)
|
rs759545352
|
0.00011
|
|
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)
|
rs201214741
|
0.00011
|
|
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys)
|
rs199723040
|
0.00011
|
|
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu)
|
rs201203517
|
0.00011
|
|
NM_032608.7(MYO18B):c.5854A>G (p.Ile1952Val)
|
rs202126120
|
0.00011
|
|
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)
|
rs200535361
|
0.00011
|
|
NM_032806.6(POMGNT2):c.76C>T (p.Arg26Cys)
|
rs755067791
|
0.00011
|
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00011
|
|
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys)
|
rs146078928
|
0.00011
|
|
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile)
|
rs138938225
|
0.00011
|
|
NM_138422.4(ADAT3):c.440G>A (p.Arg147Gln)
|
rs562447196
|
0.00011
|
|
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln)
|
rs910234195
|
0.00011
|
|
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)
|
rs374565677
|
0.00011
|
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00011
|
|
NM_152328.5(ADSS1):c.709T>C (p.Tyr237His)
|
rs755766738
|
0.00011
|
|
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His)
|
rs200386096
|
0.00011
|
|
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser)
|
rs140056720
|
0.00011
|
|
NM_152564.5(VPS13B):c.11392+771C>A
|
rs954860162
|
0.00011
|
|
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)
|
rs202027034
|
0.00011
|
|
NM_182914.3(SYNE2):c.10561G>A (p.Val3521Met)
|
rs202224612
|
0.00011
|
|
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
|
rs145874555
|
0.00011
|
|
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
|
rs145018323
|
0.00011
|
|
NM_182914.3(SYNE2):c.18001G>A (p.Asp6001Asn)
|
rs769737846
|
0.00011
|
|
NM_182914.3(SYNE2):c.5503C>A (p.His1835Asn)
|
rs201005327
|
0.00011
|
|
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)
|
rs773841153
|
0.00011
|
|
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln)
|
rs202200597
|
0.00011
|
|
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)
|
rs148212715
|
0.00011
|
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
|
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro)
|
rs370472085
|
0.00011
|
|
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
|
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)
|
rs145882956
|
0.00011
|
|
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)
|
rs371642308
|
0.00011
|
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00011
|
|
NM_198576.4(AGRN):c.4517C>T (p.Ala1506Val)
|
rs373657385
|
0.00011
|
|
NM_201384.3(PLEC):c.10000G>A (p.Gly3334Ser)
|
rs202003084
|
0.00011
|
|
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met)
|
rs202001247
|
0.00011
|
|
NM_201384.3(PLEC):c.10607C>T (p.Thr3536Met)
|
rs200187936
|
0.00011
|
|
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)
|
rs375573910
|
0.00011
|
|
NM_201384.3(PLEC):c.11027C>T (p.Ala3676Val)
|
rs200875002
|
0.00011
|
|
NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met)
|
rs377252521
|
0.00011
|
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00011
|
|
NM_201384.3(PLEC):c.12565G>A (p.Val4189Met)
|
rs782787400
|
0.00011
|
|
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)
|
rs201163149
|
0.00011
|
|
NM_201384.3(PLEC):c.13414A>C (p.Lys4472Gln)
|
rs782417764
|
0.00011
|
|
NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)
|
rs782650176
|
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.2165C>T (p.Ala722Val)
|
rs375178454
|
0.00011
|
|
NM_201384.3(PLEC):c.3176C>T (p.Ala1059Val)
|
rs529986115
|
0.00011
|
|
NM_201384.3(PLEC):c.4597C>T (p.Arg1533Trp)
|
rs781783078
|
0.00011
|
|
NM_201384.3(PLEC):c.5878C>T (p.Arg1960Cys)
|
rs540421549
|
0.00011
|
|
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp)
|
rs962321651
|
0.00011
|
|
NM_201384.3(PLEC):c.6262C>T (p.Arg2088Trp)
|
rs558683670
|
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.7928A>G (p.Glu2643Gly)
|
rs782259091
|
0.00011
|
|
NM_201384.3(PLEC):c.8062G>A (p.Val2688Met)
|
rs562229143
|
0.00011
|
|
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)
|
rs552713184
|
0.00011
|
|
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
|
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_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
|
NM_000081.4(LYST):c.2826A>G (p.Pro942=)
|
rs149558986
|
0.00010
|
|
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
|
rs746634900
|
0.00010
|
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00010
|
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00010
|
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00010
|
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00010
|
|
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)
|
rs759292620
|
0.00010
|
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
|
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)
|
rs200413804
|
0.00010
|
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
|
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
|
rs201192904
|
0.00010
|
|
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala)
|
rs372635510
|
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_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
|
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)
|
rs139843107
|
0.00010
|
|
NM_000426.4(LAMA2):c.5470G>A (p.Gly1824Ser)
|
rs370150883
|
0.00010
|
|
NM_000426.4(LAMA2):c.623C>A (p.Pro208His)
|
rs183890063
|
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_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)
|
rs193922860
|
0.00010
|
|
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala)
|
rs781367427
|
0.00010
|
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
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_000553.6(WRN):c.514A>C (p.Thr172Pro)
|
rs367991517
|
0.00010
|
|
NM_001017420.3(ESCO2):c.1282G>T (p.Val428Leu)
|
rs539409463
|
0.00010
|
|
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)
|
rs199691459
|
0.00010
|
|
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
|
rs375463904
|
0.00010
|
|
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)
|
rs200063877
|
0.00010
|
|
NM_001128227.3(GNE):c.-3G>A
|
rs368762704
|
0.00010
|
|
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)
|
rs367901920
|
0.00010
|
|
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)
|
rs143568054
|
0.00010
|
|
NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met)
|
rs760627822
|
0.00010
|
|
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)
|
rs144422408
|
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_001161403.3(LIMS2):c.533G>A (p.Arg178His)
|
rs144584729
|
0.00010
|
|
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn)
|
rs374760449
|
0.00010
|
|
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr)
|
rs376182104
|
0.00010
|
|
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
|
rs777939660
|
0.00010
|
|
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
|
rs201426239
|
0.00010
|
|
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)
|
rs372117694
|
0.00010
|
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
|
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg)
|
rs373892420
|
0.00010
|
|
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534
|
0.00010
|
|
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785
|
0.00010
|
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
|
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)
|
rs755883171
|
0.00010
|
|
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn)
|
rs764110936
|
0.00010
|
|
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His)
|
rs376932516
|
0.00010
|
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
|
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
|
rs368696141
|
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.3469G>A (p.Val1157Ile)
|
rs397517566
|
0.00010
|
|
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu)
|
rs371752190
|
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.5048G>A (p.Arg1683Gln)
|
rs368122582
|
0.00010
|
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
|
NM_001267550.2(TTN):c.58624T>C (p.Ser19542Pro)
|
rs145198325
|
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.67808C>T (p.Ala22603Val)
|
rs199583938
|
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.82972G>A (p.Ala27658Thr)
|
rs150150605
|
0.00010
|
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
|
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His)
|
rs199895320
|
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_001286577.2(C2CD3):c.5495+4A>G
|
rs375920052
|
0.00010
|
|
NM_001355436.2(SPTB):c.6017G>A (p.Arg2006His)
|
rs767230972
|
0.00010
|
|
NM_001367561.1(DOCK7):c.4415A>G (p.Asp1472Gly)
|
rs770382237
|
0.00010
|
|
NM_001372.4(DNAH9):c.6457G>A (p.Ala2153Thr)
|
rs542367185
|
0.00010
|
|
NM_001385012.1(NBEA):c.2618T>C (p.Ile873Thr)
|
rs371818788
|
0.00010
|
|
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)
|
rs752027721
|
0.00010
|
|
NM_001458.5(FLNC):c.1102G>A (p.Val368Met)
|
rs781718076
|
0.00010
|
|
NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile)
|
rs575068215
|
0.00010
|
|
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
0.00010
|
|
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425
|
0.00010
|
|
NM_001606.5(ABCA2):c.6116A>G (p.Gln2039Arg)
|
rs377050255
|
0.00010
|
|
NM_001626.6(AKT2):c.1115C>T (p.Thr372Met)
|
rs139506765
|
0.00010
|
|
NM_001711.6(BGN):c.358G>A (p.Val120Ile)
|
rs782662136
|
0.00010
|
|
NM_001813.3(CENPE):c.3494A>G (p.Asn1165Ser)
|
rs201637799
|
0.00010
|
|
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)
|
rs376567898
|
0.00010
|
|
NM_001849.4(COL6A2):c.2817C>T (p.His939=)
|
rs368164391
|
0.00010
|
|
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)
|
rs143891262
|
0.00010
|
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00010
|
|
NM_001933.5(DLST):c.911A>G (p.Asp304Gly)
|
rs148617142
|
0.00010
|
|
NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val)
|
rs200267194
|
0.00010
|
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
|
NM_003331.5(TYK2):c.1559G>A (p.Gly520Asp)
|
rs142576987
|
0.00010
|
|
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)
|
rs148117169
|
0.00010
|
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
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_004320.6(ATP2A1):c.109G>A (p.Gly37Ser)
|
rs200428113
|
0.00010
|
|
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)
|
rs780353083
|
0.00010
|
|
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu)
|
rs113896755
|
0.00010
|
|
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
|
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)
|
rs773673162
|
0.00010
|
|
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys)
|
rs530680231
|
0.00010
|
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
|
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu)
|
rs537829489
|
0.00010
|
|
NM_004667.6(HERC2):c.1627G>A (p.Ala543Thr)
|
rs139846899
|
0.00010
|
|
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)
|
rs201725858
|
0.00010
|
|
NM_005476.7(GNE):c.1633+66G>A
|
rs531140874
|
0.00010
|
|
NM_005529.7(HSPG2):c.10091G>A (p.Arg3364His)
|
rs146290454
|
0.00010
|
|
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)
|
rs757541406
|
0.00010
|
|
NM_005529.7(HSPG2):c.11567G>A (p.Gly3856Asp)
|
rs778722013
|
0.00010
|
|
NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp)
|
rs752793818
|
0.00010
|
|
NM_005529.7(HSPG2):c.1688C>T (p.Thr563Met)
|
rs142062738
|
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_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln)
|
rs202018841
|
0.00010
|
|
NM_005529.7(HSPG2):c.9908C>T (p.Thr3303Met)
|
rs150109595
|
0.00010
|
|
NM_005548.3(KARS1):c.222+10C>T
|
rs374496494
|
0.00010
|
|
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met)
|
rs200064775
|
0.00010
|
|
NM_005592.4(MUSK):c.1185-24T>A
|
rs376856980
|
0.00010
|
|
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr)
|
rs776201930
|
0.00010
|
|
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
|
rs200481790
|
0.00010
|
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
|
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
|
rs199565370
|
0.00010
|
|
NM_005677.4(COLQ):c.329C>T (p.Pro110Leu)
|
rs776165035
|
0.00010
|
|
NM_006031.6(PCNT):c.977C>T (p.Ala326Val)
|
rs181165794
|
0.00010
|
|
NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser)
|
rs553076085
|
0.00010
|
|
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met)
|
rs531211534
|
0.00010
|
|
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)
|
rs782210973
|
0.00010
|
|
NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter)
|
rs201021960
|
0.00010
|
|
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp)
|
rs398124261
|
0.00010
|
|
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp)
|
rs727502859
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser)
|
rs528367185
|
0.00010
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
0.00010
|
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00010
|
|
NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile)
|
rs370473143
|
0.00010
|
|
NM_015465.5(GEMIN5):c.1292C>T (p.Ala431Val)
|
rs200564666
|
0.00010
|
|
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
|
rs545312801
|
0.00010
|
|
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)
|
rs751186949
|
0.00010
|
|
NM_018117.12(WDR11):c.2932A>C (p.Lys978Gln)
|
rs144531702
|
0.00010
|
|
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly)
|
rs555319123
|
0.00010
|
|
NM_020376.4(PNPLA2):c.370G>A (p.Gly124Ser)
|
rs377534825
|
0.00010
|
|
NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe)
|
rs759976184
|
0.00010
|
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
|
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met)
|
rs538478136
|
0.00010
|
|
NM_020919.4(ALS2):c.3702+326A>G
|
rs909838792
|
0.00010
|
|
NM_020987.5(ANK3):c.3604A>G (p.Ile1202Val)
|
rs138308296
|
0.00010
|
|
NM_021956.5(GRIK2):c.1628G>A (p.Arg543His)
|
rs141189363
|
0.00010
|
|
NM_022095.4(ZNF335):c.1441C>G (p.Arg481Gly)
|
rs141481390
|
0.00010
|
|
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)
|
rs144411000
|
0.00010
|
|
NM_022464.5(SIL1):c.724G>A (p.Val242Met)
|
rs545999438
|
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_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys)
|
rs149220807
|
0.00010
|
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00010
|
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
|
NM_032237.5(POMK):c.626C>T (p.Pro209Leu)
|
rs369093146
|
0.00010
|
|
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met)
|
rs549430013
|
0.00010
|
|
NM_053025.4(MYLK):c.-185-1995G>A
|
rs765546638
|
0.00010
|
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
|
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser)
|
rs373908553
|
0.00010
|
|
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile)
|
rs775539988
|
0.00010
|
|
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu)
|
rs145594612
|
0.00010
|
|
NM_138295.5(PKD1L1):c.5378C>T (p.Pro1793Leu)
|
rs202181563
|
0.00010
|
|
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter)
|
rs150738413
|
0.00010
|
|
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)
|
rs782230828
|
0.00010
|
|
NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro)
|
rs771777757
|
0.00010
|
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00010
|
|
NM_152305.3(POGLUT1):c.1147A>G (p.Ile383Val)
|
rs370784795
|
0.00010
|
|
NM_153603.4(COG7):c.2087C>T (p.Ala696Val)
|
rs376170815
|
0.00010
|
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00010
|
|
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu)
|
rs373576665
|
0.00010
|
|
NM_181078.3(IL21R):c.467A>G (p.Tyr156Cys)
|
rs745372589
|
0.00010
|
|
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)
|
rs370800852
|
0.00010
|
|
NM_182914.3(SYNE2):c.7720T>A (p.Leu2574Ile)
|
rs759148677
|
0.00010
|
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
|
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=)
|
rs375949615
|
0.00010
|
|
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp)
|
rs150290283
|
0.00010
|
|
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
|
rs757688642
|
0.00010
|
|
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)
|
rs376169744
|
0.00010
|
|
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met)
|
rs139798419
|
0.00010
|
|
NM_182961.4(SYNE1):c.68-30707G>T
|
rs564148157
|
0.00010
|
|
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)
|
rs763526846
|
0.00010
|
|
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)
|
rs147281213
|
0.00010
|
|
NM_198129.4(LAMA3):c.9824C>T (p.Thr3275Ile)
|
rs561309671
|
0.00010
|
|
NM_201384.3(PLEC):c.10049T>C (p.Leu3350Pro)
|
rs186417404
|
0.00010
|
|
NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu)
|
rs782569204
|
0.00010
|
|
NM_201384.3(PLEC):c.10664C>T (p.Thr3555Met)
|
rs141176249
|
0.00010
|
|
NM_201384.3(PLEC):c.10919A>G (p.Tyr3640Cys)
|
rs1271519533
|
0.00010
|
|
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)
|
rs782767733
|
0.00010
|
|
NM_201384.3(PLEC):c.11020C>T (p.Arg3674Cys)
|
rs557562267
|
0.00010
|
|
NM_201384.3(PLEC):c.12863C>T (p.Thr4288Met)
|
rs782574559
|
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.3460C>T (p.Arg1154Trp)
|
rs782544250
|
0.00010
|
|
NM_201384.3(PLEC):c.3683G>A (p.Arg1228Gln)
|
rs201347953
|
0.00010
|
|
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp)
|
rs782410213
|
0.00010
|
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00010
|
|
NM_201384.3(PLEC):c.6727C>A (p.Leu2243Ile)
|
rs372627763
|
0.00010
|
|
NM_201384.3(PLEC):c.6842C>T (p.Ala2281Val)
|
rs371130595
|
0.00010
|
|
NM_201384.3(PLEC):c.824A>G (p.Asn275Ser)
|
rs367822744
|
0.00010
|
|
NM_201384.3(PLEC):c.8443G>A (p.Val2815Ile)
|
rs374195278
|
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_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00010
|
|
NM_207312.3(TUBA3E):c.1056+1G>A
|
rs372381003
|
0.00010
|
|
NM_213599.3(ANO5):c.1364G>A (p.Arg455His)
|
rs772899863
|
0.00010
|
|
NM_213599.3(ANO5):c.994A>G (p.Met332Val)
|
rs200553437
|
0.00010
|
|
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)
|
rs143365858
|
0.00009
|
|
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp)
|
rs369963978
|
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.482T>C (p.Ile161Thr)
|
rs531199827
|
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.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
|
NM_000070.3(CAPN3):c.2363G>T (p.Arg788Met)
|
rs769208910
|
0.00009
|
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
|
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro)
|
rs372481694
|
0.00009
|
|
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp)
|
rs141183965
|
0.00009
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
rs199746236
|
0.00009
|
|
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
|
rs367847122
|
0.00009
|
|
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp)
|
rs200276917
|
0.00009
|
|
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn)
|
rs138179493
|
0.00009
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
rs201317160
|
0.00009
|
|
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
|
rs147094885
|
0.00009
|
|
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
|
rs543359025
|
0.00009
|
|
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val)
|
rs969430772
|
0.00009
|
|
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg)
|
rs201801000
|
0.00009
|
|
NM_000124.4(ERCC6):c.1445T>G (p.Leu482Arg)
|
rs748921820
|
0.00009
|
|
NM_000157.4(GBA1):c.1225-3T>C
|
rs377143075
|
0.00009
|
|
NM_000178.4(GSS):c.911C>T (p.Thr304Ile)
|
rs374498290
|
0.00009
|
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00009
|
|
NM_000203.5(IDUA):c.240C>G (p.Val80=)
|
rs373277285
|
0.00009
|
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
|
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)
|
rs148041867
|
0.00009
|
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
|
NM_000249.4(MLH1):c.1559-1838C>T
|
rs373529151
|
0.00009
|
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00009
|
|
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)
|
rs377171707
|
0.00009
|
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
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_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)
|
rs202102815
|
0.00009
|
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
|
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)
|
rs143131877
|
0.00009
|
|
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
|
rs777986828
|
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.1391C>T (p.Pro464Leu)
|
rs150394215
|
0.00009
|
|
NM_000426.4(LAMA2):c.4166T>C (p.Leu1389Pro)
|
rs752934825
|
0.00009
|
|
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp)
|
rs138695453
|
0.00009
|
|
NM_000426.4(LAMA2):c.553C>T (p.Arg185Cys)
|
rs777977352
|
0.00009
|
|
NM_000426.4(LAMA2):c.7207G>A (p.Asp2403Asn)
|
rs141476898
|
0.00009
|
|
NM_000426.4(LAMA2):c.8467C>T (p.Pro2823Ser)
|
rs151334775
|
0.00009
|
|
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)
|
rs146525742
|
0.00009
|
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
|
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)
|
rs143033456
|
0.00009
|
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
rs201573863
|
0.00009
|
|
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)
|
rs118204421
|
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_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr)
|
rs199852690
|
0.00009
|
|
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr)
|
rs1284035468
|
0.00009
|
|
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
|
rs200684767
|
0.00009
|
|
NM_001005388.3(NFASC):c.2738C>T (p.Thr913Ile)
|
rs376788903
|
0.00009
|
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
|
NM_001042681.2(RERE):c.2675C>T (p.Ala892Val)
|
rs542632090
|
0.00009
|
|
NM_001046.3(SLC12A2):c.449C>T (p.Ser150Leu)
|
rs114437564
|
0.00009
|
|
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)
|
rs182295674
|
0.00009
|
|
NM_001077365.2(POMT1):c.803G>A (p.Arg268His)
|
rs369644530
|
0.00009
|
|
NM_001077525.3(MTMR14):c.982G>A (p.Val328Ile)
|
rs554193454
|
0.00009
|
|
NM_001080467.3(MYO5B):c.3521A>G (p.Asp1174Gly)
|
rs767088378
|
0.00009
|
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
|
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)
|
rs762370550
|
0.00009
|
|
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)
|
rs369193825
|
0.00009
|
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
|
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met)
|
rs115972761
|
0.00009
|
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
|
NM_001130823.3(DNMT1):c.357A>C (p.Arg119Ser)
|
rs373923585
|
0.00009
|
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
|
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)
|
rs202061751
|
0.00009
|
|
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
|
rs775881095
|
0.00009
|
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
|
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)
|
rs538781815
|
0.00009
|
|
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)
|
rs772664716
|
0.00009
|
|
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)
|
rs199649417
|
0.00009
|
|
NM_001130987.2(DYSF):c.5693G>A (p.Arg1898His)
|
rs143939123
|
0.00009
|
|
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)
|
rs768775204
|
0.00009
|
|
NM_001142864.4(PIEZO1):c.1178C>T (p.Ser393Phe)
|
rs762815292
|
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.4879G>A (p.Asp1627Asn)
|
rs976872648
|
0.00009
|
|
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu)
|
rs766429217
|
0.00009
|
|
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val)
|
rs138275119
|
0.00009
|
|
NM_001163809.2(WDR81):c.610G>A (p.Glu204Lys)
|
rs554912045
|
0.00009
|
|
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn)
|
rs117636679
|
0.00009
|
|
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys)
|
rs539139958
|
0.00009
|
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00009
|
|
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926
|
0.00009
|
|
NM_001164508.2(NEB):c.17581G>A (p.Asp5861Asn)
|
rs375837416
|
0.00009
|
|
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967
|
0.00009
|
|
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060
|
0.00009
|
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
|
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)
|
rs745791097
|
0.00009
|
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00009
|
|
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
|
rs564304837
|
0.00009
|
|
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)
|
rs771598053
|
0.00009
|
|
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu)
|
rs374435577
|
0.00009
|
|
NM_001199563.2(POPDC1):c.836A>G (p.His279Arg)
|
rs767206976
|
0.00009
|
|
NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met)
|
rs141139944
|
0.00009
|
|
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu)
|
rs573755164
|
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.105755G>A (p.Arg35252Gln)
|
rs368151146
|
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.17437T>A (p.Cys5813Ser)
|
rs368692616
|
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.21995T>A (p.Leu7332Gln)
|
rs369522109
|
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.31391G>A (p.Arg10464Gln)
|
rs727504757
|
0.00009
|
|
NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg)
|
rs372841136
|
0.00009
|
|
NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu)
|
rs199975096
|
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.49070C>T (p.Ala16357Val)
|
rs199768159
|
0.00009
|
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
|
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp)
|
rs372443762
|
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.61337G>A (p.Arg20446His)
|
rs368278158
|
0.00009
|
|
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)
|
rs372685222
|
0.00009
|
|
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr)
|
rs886038878
|
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.65731A>G (p.Lys21911Glu)
|
rs372565084
|
0.00009
|
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
|
NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)
|
rs369911767
|
0.00009
|
|
NM_001267550.2(TTN):c.68605G>A (p.Gly22869Ser)
|
rs876658078
|
0.00009
|
|
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)
|
rs374883884
|
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.77047A>G (p.Ile25683Val)
|
rs375611562
|
0.00009
|
|
NM_001267550.2(TTN):c.77624T>C (p.Val25875Ala)
|
rs370374073
|
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.84466G>C (p.Gly28156Arg)
|
rs763560084
|
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.92167C>T (p.Pro30723Ser)
|
rs758537709
|
0.00009
|
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00009
|
|
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His)
|
rs755972883
|
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_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu)
|
rs148656615
|
0.00009
|
|
NM_001318852.2(MAPK8IP3):c.3598C>T (p.Arg1200Cys)
|
rs775007768
|
0.00009
|
|
NM_001320714.2(DOP1B):c.3235C>T (p.Pro1079Ser)
|
rs200894624
|
0.00009
|
|
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
|
rs201022722
|
0.00009
|
|
NM_001330701.2(AGTPBP1):c.-66del
|
rs549877950
|
0.00009
|
|
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)
|
rs145734191
|
0.00009
|
|
NM_001355436.2(SPTB):c.2165C>T (p.Ser722Leu)
|
rs150328574
|
0.00009
|
|
NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met)
|
rs764571605
|
0.00009
|
|
NM_001355436.2(SPTB):c.4736G>A (p.Arg1579Gln)
|
rs376789095
|
0.00009
|
|
NM_001355436.2(SPTB):c.5528G>A (p.Arg1843Gln)
|
rs534004149
|
0.00009
|
|
NM_001355436.2(SPTB):c.65G>A (p.Arg22His)
|
rs200116664
|
0.00009
|
|
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu)
|
rs139431867
|
0.00009
|
|
NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr)
|
rs141395658
|
0.00009
|
|
NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His)
|
rs374865424
|
0.00009
|
|
NM_001365308.1(BMPER):c.1744C>T (p.Arg582Trp)
|
rs138648093
|
0.00009
|
|
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)
|
rs200817435
|
0.00009
|
|
NM_001365902.3(NFIX):c.1495-40C>T
|
rs141262142
|
0.00009
|
|
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)
|
rs374098797
|
0.00009
|
|
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)
|
rs374546223
|
0.00009
|
|
NM_001368067.1(LDB3):c.345C>T (p.Asn115=)
|
rs562263201
|
0.00009
|
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
0.00009
|
|
NM_001375524.1(TRRAP):c.11374A>G (p.Ile3792Val)
|
rs774579477
|
0.00009
|
|
NM_001375524.1(TRRAP):c.11416C>T (p.Pro3806Ser)
|
rs145490453
|
0.00009
|
|
NM_001375808.2(LPIN2):c.192+3G>A
|
rs377113126
|
0.00009
|
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
|
NM_001379451.1(BCORL1):c.3463C>A (p.Pro1155Thr)
|
rs371054533
|
0.00009
|
|
NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln)
|
rs200632934
|
0.00009
|
|
NM_001458.5(FLNC):c.1168A>C (p.Asn390His)
|
rs922960289
|
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.3382G>A (p.Glu1128Lys)
|
rs145724410
|
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.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00009
|
|
NM_001795.5(CDH5):c.1865G>A (p.Arg622Gln)
|
rs139612718
|
0.00009
|
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
|
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)
|
rs374685631
|
0.00009
|
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00009
|
|
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)
|
rs199867193
|
0.00009
|
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
|
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)
|
rs368160013
|
0.00009
|
|
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)
|
rs373813975
|
0.00009
|
|
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys)
|
rs374504636
|
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_002101.5(GYPC):c.214G>A (p.Val72Ile)
|
rs200879714
|
0.00009
|
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
|
NM_002206.3(ITGA7):c.1249A>G (p.Ser417Gly)
|
rs150004156
|
0.00009
|
|
NM_002206.3(ITGA7):c.3385G>A (p.Asp1129Asn)
|
rs572158420
|
0.00009
|
|
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg)
|
rs141565454
|
0.00009
|
|
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn)
|
rs146388120
|
0.00009
|
|
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
|
rs201913006
|
0.00009
|
|
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu)
|
rs567433969
|
0.00009
|
|
NM_002894.3(RBBP8):c.985G>A (p.Val329Ile)
|
rs544256922
|
0.00009
|
|
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
|
rs188840804
|
0.00009
|
|
NM_003126.4(SPTA1):c.3437T>C (p.Phe1146Ser)
|
rs200143693
|
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_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00009
|
|
NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val)
|
rs781467355
|
0.00009
|
|
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)
|
rs762850913
|
0.00009
|
|
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln)
|
rs752109217
|
0.00009
|
|
NM_003801.4(GPAA1):c.1598C>T (p.Ala533Val)
|
rs200059746
|
0.00009
|
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
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.2444C>A (p.Pro815His)
|
rs199601240
|
0.00009
|
|
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg)
|
rs755587601
|
0.00009
|
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
|
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)
|
rs563530370
|
0.00009
|
|
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)
|
rs199632952
|
0.00009
|
|
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn)
|
rs778940391
|
0.00009
|
|
NM_004369.4(COL6A3):c.552G>A (p.Ala184=)
|
rs542204130
|
0.00009
|
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00009
|
|
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His)
|
rs368379003
|
0.00009
|
|
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp)
|
rs201938007
|
0.00009
|
|
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp)
|
rs148252611
|
0.00009
|
|
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys)
|
rs371006546
|
0.00009
|
|
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)
|
rs147533489
|
0.00009
|
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00009
|
|
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met)
|
rs143573515
|
0.00009
|
|
NM_004393.6(DAG1):c.220G>A (p.Val74Ile)
|
rs189360006
|
0.00009
|
|
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln)
|
rs782357172
|
0.00009
|
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
|
NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)
|
rs554752905
|
0.00009
|
|
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)
|
rs375985673
|
0.00009
|
|
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)
|
rs367565995
|
0.00009
|
|
NM_005097.4(LGI1):c.812C>T (p.Thr271Ile)
|
rs140752487
|
0.00009
|
|
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)
|
rs773017713
|
0.00009
|
|
NM_005529.7(HSPG2):c.10678G>A (p.Ala3560Thr)
|
rs749882511
|
0.00009
|
|
NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp)
|
rs114342311
|
0.00009
|
|
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His)
|
rs373895855
|
0.00009
|
|
NM_005529.7(HSPG2):c.514G>A (p.Gly172Ser)
|
rs41312001
|
0.00009
|
|
NM_005529.7(HSPG2):c.5743G>A (p.Gly1915Ser)
|
rs368203304
|
0.00009
|
|
NM_005559.4(LAMA1):c.1653G>C (p.Gln551His)
|
rs374075138
|
0.00009
|
|
NM_005562.3(LAMC2):c.1039C>T (p.Arg347Cys)
|
rs188149266
|
0.00009
|
|
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)
|
rs531748591
|
0.00009
|
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
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_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln)
|
rs749345540
|
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_006308.3(HSPB3):c.98dup (p.Leu34fs)
|
rs778166378
|
0.00009
|
|
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)
|
rs147135162
|
0.00009
|
|
NM_006446.5(SLCO1B1):c.601A>G (p.Lys201Glu)
|
rs556914358
|
0.00009
|
|
NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser)
|
rs373621115
|
0.00009
|
|
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)
|
rs765114036
|
0.00009
|
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
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_012120.3(CD2AP):c.902A>T (p.Lys301Met)
|
rs141778404
|
0.00009
|
|
NM_012210.4(TRIM32):c.979A>G (p.Met327Val)
|
rs373287765
|
0.00009
|
|
NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)
|
rs367826339
|
0.00009
|
|
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)
|
rs201271558
|
0.00009
|
|
NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile)
|
rs150330408
|
0.00009
|
|
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)
|
rs139008774
|
0.00009
|
|
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)
|
rs370690185
|
0.00009
|
|
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe)
|
rs200690151
|
0.00009
|
|
NM_013382.7(POMT2):c.700G>A (p.Val234Ile)
|
rs576822260
|
0.00009
|
|
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter)
|
rs184745027
|
0.00009
|
|
NM_015166.4(MLC1):c.101C>T (p.Pro34Leu)
|
rs138094311
|
0.00009
|
|
NM_015213.4(DENND5A):c.2542C>T (p.Arg848Cys)
|
rs148317700
|
0.00009
|
|
NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val)
|
rs181045631
|
0.00009
|
|
NM_015295.3(SMCHD1):c.5411T>C (p.Ile1804Thr)
|
rs370249291
|
0.00009
|
|
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met)
|
rs200449388
|
0.00009
|
|
NM_015450.3(POT1):c.-154+1656C>T
|
rs544374889
|
0.00009
|
|
NM_015466.4(PTPN23):c.4106G>A (p.Arg1369His)
|
rs201950738
|
0.00009
|
|
NM_015512.5(DNAH1):c.374G>A (p.Arg125Gln)
|
rs373203216
|
0.00009
|
|
NM_015937.6(PIGT):c.634C>T (p.His212Tyr)
|
rs574183358
|
0.00009
|
|
NM_017534.6(MYH2):c.1566C>T (p.Ala522=)
|
rs142383679
|
0.00009
|
|
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His)
|
rs144414607
|
0.00009
|
|
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys)
|
rs373777515
|
0.00009
|
|
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)
|
rs768184220
|
0.00009
|
|
NM_017837.4(PIGV):c.428A>G (p.His143Arg)
|
rs371892825
|
0.00009
|
|
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)
|
rs563467821
|
0.00009
|
|
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
|
rs531131529
|
0.00009
|
|
NM_018451.5(CPAP):c.1849C>T (p.Pro617Ser)
|
rs573822147
|
0.00009
|
|
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
|
rs201758122
|
0.00009
|
|
NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp)
|
rs371871714
|
0.00009
|
|
NM_020376.4(PNPLA2):c.844G>A (p.Ala282Thr)
|
rs146739862
|
0.00009
|
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
|
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)
|
rs142378760
|
0.00009
|
|
NM_020987.5(ANK3):c.1267G>A (p.Gly423Ser)
|
rs139379111
|
0.00009
|
|
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)
|
rs200078740
|
0.00009
|
|
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala)
|
rs201263451
|
0.00009
|
|
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg)
|
rs146053783
|
0.00009
|
|
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)
|
rs147966522
|
0.00009
|
|
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile)
|
rs374805957
|
0.00009
|
|
NM_022124.6(CDH23):c.3029G>A (p.Arg1010His)
|
rs370107953
|
0.00009
|
|
NM_022168.4(IFIH1):c.1784G>A (p.Arg595His)
|
rs74162084
|
0.00009
|
|
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu)
|
rs377433853
|
0.00009
|
|
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)
|
rs372399027
|
0.00009
|
|
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
|
rs777267662
|
0.00009
|
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00009
|
|
NM_022788.5(P2RY12):c.160C>T (p.Arg54Trp)
|
rs192284069
|
0.00009
|
|
NM_024077.5(SECISBP2):c.1775C>T (p.Ser592Leu)
|
rs187624831
|
0.00009
|
|
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr)
|
rs555600636
|
0.00009
|
|
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys)
|
rs376996626
|
0.00009
|
|
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala)
|
rs549442380
|
0.00009
|
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
|
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=)
|
rs137923783
|
0.00009
|
|
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)
|
rs375669985
|
0.00009
|
|
NM_031157.4(HNRNPA1):c.889G>A (p.Gly297Ser)
|
rs372023836
|
0.00009
|
|
NM_032237.5(POMK):c.1024A>G (p.Met342Val)
|
rs762404960
|
0.00009
|
|
NM_032382.5(COG8):c.766C>T (p.Arg256Trp)
|
rs370783972
|
0.00009
|
|
NM_032620.4(GTPBP3):c.664+18T>G
|
rs369523370
|
0.00009
|
|
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr)
|
rs372952844
|
0.00009
|
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
|
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met)
|
rs149646216
|
0.00009
|
|
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser)
|
rs1052237
|
0.00009
|
|
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
|
rs773023944
|
0.00009
|
|
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
|
rs572084618
|
0.00009
|
|
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)
|
rs372072916
|
0.00009
|
|
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu)
|
rs143640165
|
0.00009
|
|
NM_145117.5(NAV2):c.6098G>A (p.Arg2033His)
|
rs200685939
|
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_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn)
|
rs202067569
|
0.00009
|
|
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile)
|
rs151133469
|
0.00009
|
|
NM_152641.4(ARID2):c.4433T>C (p.Ile1478Thr)
|
rs147073436
|
0.00009
|
|
NM_170606.3(KMT2C):c.10270G>A (p.Ala3424Thr)
|
rs776155729
|
0.00009
|
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
|
NM_172250.3(MMAA):c.*703C>T
|
rs548243828
|
0.00009
|
|
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp)
|
rs767909551
|
0.00009
|
|
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)
|
rs750262940
|
0.00009
|
|
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
|
rs755873468
|
0.00009
|
|
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
|
rs151079259
|
0.00009
|
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
|
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg)
|
rs775932562
|
0.00009
|
|
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)
|
rs368742778
|
0.00009
|
|
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)
|
rs771234852
|
0.00009
|
|
NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp)
|
rs374073818
|
0.00009
|
|
NM_182914.3(SYNE2):c.1067T>C (p.Leu356Pro)
|
rs368015444
|
0.00009
|
|
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val)
|
rs767658277
|
0.00009
|
|
NM_182914.3(SYNE2):c.16729C>T (p.Arg5577Trp)
|
rs139218000
|
0.00009
|
|
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)
|
rs761998546
|
0.00009
|
|
NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg)
|
rs200404150
|
0.00009
|
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
|
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr)
|
rs745978878
|
0.00009
|
|
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)
|
rs150761564
|
0.00009
|
|
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val)
|
rs143916942
|
0.00009
|
|
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)
|
rs199962439
|
0.00009
|
|
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)
|
rs752135269
|
0.00009
|
|
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys)
|
rs144244988
|
0.00009
|
|
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met)
|
rs767144952
|
0.00009
|
|
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile)
|
rs757079165
|
0.00009
|
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
|
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)
|
rs150700669
|
0.00009
|
|
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu)
|
rs138707300
|
0.00009
|
|
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
|
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser)
|
rs150723622
|
0.00009
|
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
|
NM_182961.4(SYNE1):c.24866A>G (p.Tyr8289Cys)
|
rs200346917
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
|
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile)
|
rs148785548
|
0.00009
|
|
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr)
|
rs398123005
|
0.00009
|
|
NM_198576.4(AGRN):c.2971C>T (p.Leu991Phe)
|
rs749588875
|
0.00009
|
|
NM_198576.4(AGRN):c.4178C>T (p.Thr1393Met)
|
rs766462843
|
0.00009
|
|
NM_201384.3(PLEC):c.10204G>A (p.Val3402Met)
|
rs561251865
|
0.00009
|
|
NM_201384.3(PLEC):c.10303G>A (p.Gly3435Ser)
|
rs375044211
|
0.00009
|
|
NM_201384.3(PLEC):c.10615C>T (p.Arg3539Cys)
|
rs201438739
|
0.00009
|
|
NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys)
|
rs200653006
|
0.00009
|
|
NM_201384.3(PLEC):c.10921G>A (p.Asp3641Asn)
|
rs146233901
|
0.00009
|
|
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu)
|
rs377598440
|
0.00009
|
|
NM_201384.3(PLEC):c.1153C>T (p.Arg385Cys)
|
rs782439302
|
0.00009
|
|
NM_201384.3(PLEC):c.12208G>A (p.Gly4070Ser)
|
rs201751379
|
0.00009
|
|
NM_201384.3(PLEC):c.12465C>T (p.Tyr4155=)
|
rs773080070
|
0.00009
|
|
NM_201384.3(PLEC):c.12572A>G (p.Lys4191Arg)
|
rs782075595
|
0.00009
|
|
NM_201384.3(PLEC):c.1262C>T (p.Ser421Leu)
|
rs200848972
|
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_201384.3(PLEC):c.3050G>A (p.Arg1017Gln)
|
rs782374414
|
0.00009
|
|
NM_201384.3(PLEC):c.3685C>T (p.Arg1229Trp)
|
rs781861123
|
0.00009
|
|
NM_201384.3(PLEC):c.3863C>T (p.Thr1288Met)
|
rs372055596
|
0.00009
|
|
NM_201384.3(PLEC):c.4186C>T (p.Arg1396Cys)
|
rs782175129
|
0.00009
|
|
NM_201384.3(PLEC):c.4886G>A (p.Arg1629Gln)
|
rs782516531
|
0.00009
|
|
NM_201384.3(PLEC):c.5003A>C (p.Glu1668Ala)
|
rs782670264
|
0.00009
|
|
NM_201384.3(PLEC):c.5213G>A (p.Arg1738Gln)
|
rs577419493
|
0.00009
|
|
NM_201384.3(PLEC):c.5240C>T (p.Thr1747Met)
|
rs782103588
|
0.00009
|
|
NM_201384.3(PLEC):c.5414G>A (p.Arg1805His)
|
rs782438887
|
0.00009
|
|
NM_201384.3(PLEC):c.6523G>A (p.Glu2175Lys)
|
rs375723079
|
0.00009
|
|
NM_201384.3(PLEC):c.6857C>T (p.Ala2286Val)
|
rs199720565
|
0.00009
|
|
NM_201384.3(PLEC):c.7357G>A (p.Ala2453Thr)
|
rs782611923
|
0.00009
|
|
NM_201384.3(PLEC):c.7670G>A (p.Arg2557Gln)
|
rs555720538
|
0.00009
|
|
NM_201384.3(PLEC):c.9290C>T (p.Ser3097Leu)
|
rs112196104
|
0.00009
|
|
NM_201384.3(PLEC):c.9308C>T (p.Thr3103Ile)
|
rs201848397
|
0.00009
|
|
NM_201384.3(PLEC):c.9604G>A (p.Asp3202Asn)
|
rs782598101
|
0.00009
|
|
NM_207111.4(RNF216):c.83G>A (p.Arg28Gln)
|
rs536794545
|
0.00009
|
|
NM_213599.3(ANO5):c.1332+8A>G
|
rs368857740
|
0.00009
|
|
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys)
|
rs200531045
|
0.00009
|
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00008
|
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00008
|
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00008
|
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
|
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr)
|
rs189963844
|
0.00008
|
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
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_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00008
|
|
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
|
rs199554923
|
0.00008
|
|
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)
|
rs369936288
|
0.00008
|
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00008
|
|
NM_000298.6(PKLR):c.1345C>T (p.Arg449Cys)
|
rs189360283
|
0.00008
|
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
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_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)
|
rs370253340
|
0.00008
|
|
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)
|
rs749372185
|
0.00008
|
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00008
|
|
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys)
|
rs140829166
|
0.00008
|
|
NM_000436.4(OXCT1):c.863G>C (p.Gly288Ala)
|
rs140541067
|
0.00008
|
|
NM_000463.3(UGT1A1):c.354G>T (p.Lys118Asn)
|
rs200734586
|
0.00008
|
|
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr)
|
rs367657406
|
0.00008
|
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00008
|
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
|
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)
|
rs72558417
|
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_000581.4(GPX1):c.85C>A (p.Pro29Thr)
|
rs536399294
|
0.00008
|
|
NM_000637.5(GSR):c.878C>G (p.Ser293Cys)
|
rs762024253
|
0.00008
|
|
NM_000718.4(CACNA1B):c.3520C>T (p.Arg1174Cys)
|
rs201771536
|
0.00008
|
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
|
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile)
|
rs183474162
|
0.00008
|
|
NM_001005273.3(CHD3):c.5798C>T (p.Ala1933Val)
|
rs140448992
|
0.00008
|
|
NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp)
|
rs371882096
|
0.00008
|
|
NM_001012614.2(CTBP1):c.1246G>A (p.Val416Ile)
|
rs748609943
|
0.00008
|
|
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)
|
rs150435015
|
0.00008
|
|
NM_001042750.2(STAG2):c.3430A>G (p.Met1144Val)
|
rs147520054
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)
|
rs147923905
|
0.00008
|
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
|
NM_001072.4(UGT1A6):c.269G>A (p.Arg90His)
|
rs147761911
|
0.00008
|
|
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His)
|
rs147601415
|
0.00008
|
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
|
NM_001080432.3(FTO):c.185A>G (p.His62Arg)
|
rs550932456
|
0.00008
|
|
NM_001081.4(CUBN):c.5762G>A (p.Arg1921His)
|
rs192022688
|
0.00008
|
|
NM_001098.3(ACO2):c.424C>T (p.Arg142Trp)
|
rs779868128
|
0.00008
|
|
NM_001098816.3(TENM4):c.1400A>G (p.Asn467Ser)
|
rs376984266
|
0.00008
|
|
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu)
|
rs200509497
|
0.00008
|
|
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)
|
rs771062534
|
0.00008
|
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
|
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)
|
rs763456750
|
0.00008
|
|
NM_001130987.2(DYSF):c.4464+7T>C
|
rs369949055
|
0.00008
|
|
NM_001142864.4(PIEZO1):c.4118G>A (p.Arg1373His)
|
rs1222286855
|
0.00008
|
|
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)
|
rs914048941
|
0.00008
|
|
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)
|
rs200231493
|
0.00008
|
|
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys)
|
rs201636855
|
0.00008
|
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00008
|
|
NM_001164508.2(NEB):c.12447G>C (p.Arg4149Ser)
|
rs1359770059
|
0.00008
|
|
NM_001164508.2(NEB):c.15674A>G (p.Lys5225Arg)
|
rs1197972114
|
0.00008
|
|
NM_001164508.2(NEB):c.16625A>G (p.His5542Arg)
|
rs773955783
|
0.00008
|
|
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641
|
0.00008
|
|
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
|
rs376732812
|
0.00008
|
|
NM_001164508.2(NEB):c.19396C>T (p.Arg6466Trp)
|
rs752233745
|
0.00008
|
|
NM_001164508.2(NEB):c.307G>C (p.Glu103Gln)
|
rs372579696
|
0.00008
|
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
|
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn)
|
rs375811851
|
0.00008
|
|
NM_001205254.2(OCLN):c.472A>G (p.Thr158Ala)
|
rs779033708
|
0.00008
|
|
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)
|
rs376147306
|
0.00008
|
|
NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)
|
rs375509312
|
0.00008
|
|
NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys)
|
rs568460311
|
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.16060G>C (p.Asp5354His)
|
rs745578038
|
0.00008
|
|
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val)
|
rs567457007
|
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.47705G>A (p.Gly15902Glu)
|
rs561284948
|
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.57559G>A (p.Val19187Ile)
|
rs764203267
|
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.71104G>T (p.Gly23702Trp)
|
rs750853901
|
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.95885A>T (p.Asn31962Ile)
|
rs535943753
|
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_001283009.2(RTEL1):c.250C>T (p.Arg84Trp)
|
rs373874416
|
0.00008
|
|
NM_001348768.2(HECW2):c.2294G>A (p.Gly765Asp)
|
rs568347367
|
0.00008
|
|
NM_001351132.2(PEX5):c.788G>A (p.Arg263Lys)
|
rs749263771
|
0.00008
|
|
NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)
|
rs146526072
|
0.00008
|
|
NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys)
|
rs201391809
|
0.00008
|
|
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met)
|
rs535792693
|
0.00008
|
|
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)
|
rs748273011
|
0.00008
|
|
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
|
rs373464494
|
0.00008
|
|
NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly)
|
rs776317704
|
0.00008
|
|
NM_001379081.2(FREM1):c.2875G>A (p.Val959Met)
|
rs201699523
|
0.00008
|
|
NM_001385012.1(NBEA):c.3770C>T (p.Ala1257Val)
|
rs201399155
|
0.00008
|
|
NM_001385012.1(NBEA):c.8542C>T (p.Arg2848Cys)
|
rs200699050
|
0.00008
|
|
NM_001394998.1(TANC2):c.160G>A (p.Asp54Asn)
|
rs373822154
|
0.00008
|
|
NM_001430.5(EPAS1):c.2009C>G (p.Pro670Arg)
|
rs139763806
|
0.00008
|
|
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met)
|
rs189785975
|
0.00008
|
|
NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser)
|
rs200935123
|
0.00008
|
|
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
0.00008
|
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
|
NM_001606.5(ABCA2):c.3271C>T (p.Arg1091Trp)
|
rs374438065
|
0.00008
|
|
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)
|
rs376772481
|
0.00008
|
|
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)
|
rs765631918
|
0.00008
|
|
NM_001848.3(COL6A1):c.1777-3C>T
|
rs111263341
|
0.00008
|
|
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)
|
rs377586358
|
0.00008
|
|
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)
|
rs373846012
|
0.00008
|
|
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)
|
rs753298014
|
0.00008
|
|
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)
|
rs779242861
|
0.00008
|
|
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met)
|
rs140020002
|
0.00008
|
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00008
|
|
NM_002055.5(GFAP):c.287C>T (p.Ala96Val)
|
rs552590923
|
0.00008
|
|
NM_002080.4(GOT2):c.880G>C (p.Val294Leu)
|
rs368397369
|
0.00008
|
|
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)
|
rs200566598
|
0.00008
|
|
NM_002206.3(ITGA7):c.1396G>A (p.Ala466Thr)
|
rs61733964
|
0.00008
|
|
NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)
|
rs142143029
|
0.00008
|
|
NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)
|
rs748182172
|
0.00008
|
|
NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln)
|
rs752159189
|
0.00008
|
|
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)
|
rs780726611
|
0.00008
|
|
NM_002472.3(MYH8):c.3101T>C (p.Val1034Ala)
|
rs200190381
|
0.00008
|
|
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)
|
rs145074004
|
0.00008
|
|
NM_002662.5(PLD1):c.1319G>A (p.Arg440His)
|
rs146936145
|
0.00008
|
|
NM_003074.4(SMARCC1):c.3095G>A (p.Arg1032His)
|
rs201335646
|
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_003235.5(TG):c.2936G>A (p.Arg979Gln)
|
rs143609789
|
0.00008
|
|
NM_003235.5(TG):c.3748C>T (p.Arg1250Cys)
|
rs375071844
|
0.00008
|
|
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)
|
rs876657778
|
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_004172.5(SLC1A3):c.1144G>A (p.Val382Met)
|
rs199787096
|
0.00008
|
|
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln)
|
rs559066300
|
0.00008
|
|
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)
|
rs199700646
|
0.00008
|
|
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)
|
rs375022162
|
0.00008
|
|
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)
|
rs780115806
|
0.00008
|
|
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
|
rs372247515
|
0.00008
|
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
|
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)
|
rs371066956
|
0.00008
|
|
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)
|
rs141050617
|
0.00008
|
|
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)
|
rs201657256
|
0.00008
|
|
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu)
|
rs754916465
|
0.00008
|
|
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala)
|
rs528319887
|
0.00008
|
|
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)
|
rs200108494
|
0.00008
|
|
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)
|
rs754228661
|
0.00008
|
|
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)
|
rs369430343
|
0.00008
|
|
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)
|
rs138357804
|
0.00008
|
|
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)
|
rs754313408
|
0.00008
|
|
NM_005529.7(HSPG2):c.10079C>T (p.Ser3360Leu)
|
rs778225565
|
0.00008
|
|
NM_005529.7(HSPG2):c.10740G>A (p.Met3580Ile)
|
rs374473164
|
0.00008
|
|
NM_005529.7(HSPG2):c.1855C>T (p.Arg619Cys)
|
rs754060584
|
0.00008
|
|
NM_005529.7(HSPG2):c.2411T>C (p.Met804Thr)
|
rs761964111
|
0.00008
|
|
NM_005529.7(HSPG2):c.3551G>A (p.Gly1184Asp)
|
rs138804377
|
0.00008
|
|
NM_005529.7(HSPG2):c.7150C>T (p.Arg2384Trp)
|
rs372112548
|
0.00008
|
|
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)
|
rs201291910
|
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_005609.4(PYGM):c.1919G>A (p.Arg640His)
|
rs141267088
|
0.00008
|
|
NM_005677.4(COLQ):c.61G>A (p.Val21Met)
|
rs142115188
|
0.00008
|
|
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln)
|
rs199880764
|
0.00008
|
|
NM_005901.6(SMAD2):c.579G>A (p.Leu193=)
|
rs200480021
|
0.00008
|
|
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
|
rs370209525
|
0.00008
|
|
NM_006182.4(DDR2):c.512A>G (p.Asp171Gly)
|
rs149052593
|
0.00008
|
|
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)
|
rs773290230
|
0.00008
|
|
NM_006514.4(SCN10A):c.1493G>A (p.Arg498Gln)
|
rs372716583
|
0.00008
|
|
NM_006545.5(NPRL2):c.728A>G (p.Asn243Ser)
|
rs147938650
|
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_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)
|
rs141806013
|
0.00008
|
|
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His)
|
rs369489033
|
0.00008
|
|
NM_013382.7(POMT2):c.29C>T (p.Ala10Val)
|
rs183558313
|
0.00008
|
|
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys)
|
rs200204831
|
0.00008
|
|
NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)
|
rs376464389
|
0.00008
|
|
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00008
|
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00008
|
|
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val)
|
rs548397345
|
0.00008
|
|
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His)
|
rs145065164
|
0.00008
|
|
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)
|
rs201023108
|
0.00008
|
|
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
|
rs3738877
|
0.00008
|
|
NM_016030.6(TRAPPC12):c.1693G>A (p.Val565Met)
|
rs201791969
|
0.00008
|
|
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp)
|
rs200134368
|
0.00008
|
|
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg)
|
rs747186072
|
0.00008
|
|
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala)
|
rs776266174
|
0.00008
|
|
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)
|
rs374352922
|
0.00008
|
|
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp)
|
rs145736350
|
0.00008
|
|
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
|
rs764496155
|
0.00008
|
|
NM_017827.4(SARS2):c.637G>A (p.Asp213Asn)
|
rs151116675
|
0.00008
|
|
NM_017827.4(SARS2):c.988C>T (p.Arg330Trp)
|
rs781367675
|
0.00008
|
|
NM_017934.7(PHIP):c.1848A>C (p.Gln616His)
|
rs200020269
|
0.00008
|
|
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln)
|
rs763892619
|
0.00008
|
|
NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)
|
rs1182835336
|
0.00008
|
|
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
|
rs190835070
|
0.00008
|
|
NM_020070.4(IGLL1):c.21G>C (p.Gln7His)
|
rs1044209410
|
0.00008
|
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
|
NM_020754.4(ARHGAP31):c.3698A>T (p.Gln1233Leu)
|
rs779090775
|
0.00008
|
|
NM_020821.3(VPS13C):c.1126T>C (p.Tyr376His)
|
rs373559813
|
0.00008
|
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
|
NM_020928.2(ZSWIM6):c.1991T>C (p.Met664Thr)
|
rs371478900
|
0.00008
|
|
NM_021728.4(OTX2):c.743C>T (p.Thr248Ile)
|
rs199650198
|
0.00008
|
|
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn)
|
rs753388968
|
0.00008
|
|
NM_021971.4(GMPPB):c.304G>C (p.Asp102His)
|
rs368542417
|
0.00008
|
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
|
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
|
rs760192112
|
0.00008
|
|
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser)
|
rs397518454
|
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_032237.5(POMK):c.910T>C (p.Phe304Leu)
|
rs757744253
|
0.00008
|
|
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
|
rs763529688
|
0.00008
|
|
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)
|
rs574214196
|
0.00008
|
|
NM_032601.4(MCEE):c.520G>C (p.Glu174Gln)
|
rs200334627
|
0.00008
|
|
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
|
rs755833440
|
0.00008
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
0.00008
|
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
|
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)
|
rs200755494
|
0.00008
|
|
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)
|
rs375911119
|
0.00008
|
|
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)
|
rs200635355
|
0.00008
|
|
NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg)
|
rs200574827
|
0.00008
|
|
NM_138690.3(GRIN3B):c.1019G>A (p.Arg340Gln)
|
rs577413695
|
0.00008
|
|
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser)
|
rs139102393
|
0.00008
|
|
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)
|
rs746561147
|
0.00008
|
|
NM_139058.3(ARX):c.821T>C (p.Val274Ala)
|
rs375289776
|
0.00008
|
|
NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)
|
rs202065324
|
0.00008
|
|
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)
|
rs138443370
|
0.00008
|
|
NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)
|
rs758823626
|
0.00008
|
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00008
|
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
|
NM_173660.5(DOK7):c.1084G>A (p.Val362Met)
|
rs760157322
|
0.00008
|
|
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp)
|
rs778440478
|
0.00008
|
|
NM_178554.6(KY):c.1895C>G (p.Ala632Gly)
|
rs527908164
|
0.00008
|
|
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser)
|
rs577518631
|
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_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00008
|
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
|
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala)
|
rs780396166
|
0.00008
|
|
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His)
|
rs746141355
|
0.00008
|
|
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn)
|
rs779301586
|
0.00008
|
|
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala)
|
rs746347703
|
0.00008
|
|
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln)
|
rs774319570
|
0.00008
|
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
|
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln)
|
rs575386895
|
0.00008
|
|
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr)
|
rs141821444
|
0.00008
|
|
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro)
|
rs56308121
|
0.00008
|
|
NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys)
|
rs751191936
|
0.00008
|
|
NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
|
rs371872705
|
0.00008
|
|
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val)
|
rs375724532
|
0.00008
|
|
NM_201384.3(PLEC):c.1000G>A (p.Ala334Thr)
|
rs375047877
|
0.00008
|
|
NM_201384.3(PLEC):c.10043G>A (p.Arg3348Gln)
|
rs556517027
|
0.00008
|
|
NM_201384.3(PLEC):c.10196T>C (p.Val3399Ala)
|
rs200572137
|
0.00008
|
|
NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys)
|
rs782194334
|
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.3044C>T (p.Pro1015Leu)
|
rs372286371
|
0.00008
|
|
NM_201384.3(PLEC):c.3352G>A (p.Val1118Met)
|
rs369022362
|
0.00008
|
|
NM_201384.3(PLEC):c.4024C>T (p.Arg1342Trp)
|
rs369706837
|
0.00008
|
|
NM_201384.3(PLEC):c.4397G>A (p.Arg1466His)
|
rs367724538
|
0.00008
|
|
NM_201384.3(PLEC):c.4735C>A (p.Gln1579Lys)
|
rs782612282
|
0.00008
|
|
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)
|
rs782026068
|
0.00008
|
|
NM_201384.3(PLEC):c.5036C>T (p.Ala1679Val)
|
rs782217591
|
0.00008
|
|
NM_201384.3(PLEC):c.5260G>A (p.Glu1754Lys)
|
rs567416889
|
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.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
|
NM_213599.3(ANO5):c.1430T>C (p.Met477Thr)
|
rs149017832
|
0.00008
|
|
NM_213599.3(ANO5):c.479G>A (p.Arg160His)
|
rs150652958
|
0.00008
|
|
NC_000001.11:g.114695547A>G
|
rs377496676
|
0.00007
|
|
NM_000032.5(ALAS2):c.886G>A (p.Gly296Arg)
|
rs372076630
|
0.00007
|
|
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
|
rs142058513
|
0.00007
|
|
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)
|
rs376789465
|
0.00007
|
|
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
|
rs534684763
|
0.00007
|
|
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
|
rs776387636
|
0.00007
|
|
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu)
|
rs376193713
|
0.00007
|
|
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
|
rs141945303
|
0.00007
|
|
NM_000045.4(ARG1):c.746T>C (p.Val249Ala)
|
rs755779260
|
0.00007
|
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
0.00007
|
|
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)
|
rs140660066
|
0.00007
|
|
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)
|
rs771263688
|
0.00007
|
|
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
|
rs748933093
|
0.00007
|
|
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
|
rs147794568
|
0.00007
|
|
NM_000081.4(LYST):c.3931A>G (p.Met1311Val)
|
rs376718077
|
0.00007
|
|
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
|
rs765338918
|
0.00007
|
|
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
|
rs201337542
|
0.00007
|
|
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg)
|
rs770836890
|
0.00007
|
|
NM_000093.5(COL5A1):c.109+8179C>T
|
rs758993596
|
0.00007
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
rs141787797
|
0.00007
|
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00007
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00007
|
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00007
|
|
NM_000153.4(GALC):c.165C>G (p.Phe55Leu)
|
rs537461366
|
0.00007
|
|
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)
|
rs748944982
|
0.00007
|
|
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
|
rs199742342
|
0.00007
|
|
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
|
rs34306618
|
0.00007
|
|
NM_000178.4(GSS):c.645A>C (p.Arg215Ser)
|
rs201069127
|
0.00007
|
|
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)
|
rs764507324
|
0.00007
|
|
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)
|
rs373037758
|
0.00007
|
|
NM_000208.4(INSR):c.1084G>A (p.Val362Ile)
|
rs72549237
|
0.00007
|
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
|
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)
|
rs201329880
|
0.00007
|
|
NM_000231.3(SGCG):c.792C>G (p.Ile264Met)
|
rs377620885
|
0.00007
|
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
|
NM_000250.2(MPO):c.1643G>A (p.Arg548Gln)
|
rs144371238
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)
|
rs368180702
|
0.00007
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00007
|
|
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
|
rs752255045
|
0.00007
|
|
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
|
rs555575015
|
0.00007
|
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00007
|
|
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
|
rs760372600
|
0.00007
|
|
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)
|
rs368822028
|
0.00007
|
|
NM_000334.4(SCN4A):c.841G>A (p.Val281Met)
|
rs370289618
|
0.00007
|
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00007
|
|
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
|
rs781401079
|
0.00007
|
|
NM_000342.4(SLC4A1):c.287G>A (p.Arg96His)
|
rs141244582
|
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_000380.4(XPA):c.122C>T (p.Ala41Val)
|
rs778289269
|
0.00007
|
|
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)
|
rs200034452
|
0.00007
|
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
|
NM_000426.4(LAMA2):c.1106G>A (p.Arg369His)
|
rs367649718
|
0.00007
|
|
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)
|
rs191899712
|
0.00007
|
|
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln)
|
rs374201203
|
0.00007
|
|
NM_000426.4(LAMA2):c.6598C>T (p.Arg2200Cys)
|
rs568648664
|
0.00007
|
|
NM_000426.4(LAMA2):c.7118C>T (p.Ser2373Leu)
|
rs758887080
|
0.00007
|
|
NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp)
|
rs184127828
|
0.00007
|
|
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)
|
rs140178576
|
0.00007
|
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00007
|
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00007
|
|
NM_000518.5(HBB):c.93-38G>A
|
rs370724350
|
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.12345A>C (p.Glu4115Asp)
|
rs148923077
|
0.00007
|
|
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg)
|
rs138932463
|
0.00007
|
|
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu)
|
rs201054455
|
0.00007
|
|
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys)
|
rs143849895
|
0.00007
|
|
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu)
|
rs758631999
|
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_000540.3(RYR1):c.9800C>T (p.Pro3267Leu)
|
rs200375946
|
0.00007
|
|
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)
|
rs767722360
|
0.00007
|
|
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)
|
rs587780730
|
0.00007
|
|
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)
|
rs144097786
|
0.00007
|
|
NM_000637.5(GSR):c.476A>T (p.Gln159Leu)
|
rs759955082
|
0.00007
|
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00007
|
|
NM_000718.4(CACNA1B):c.1348C>T (p.Arg450Cys)
|
rs188672212
|
0.00007
|
|
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys)
|
rs377455260
|
0.00007
|
|
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg)
|
rs760244872
|
0.00007
|
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00007
|
|
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys)
|
rs141109968
|
0.00007
|
|
NM_001005273.3(CHD3):c.4544C>T (p.Pro1515Leu)
|
rs368103933
|
0.00007
|
|
NM_001038.6(SCNN1A):c.1222C>T (p.Pro408Ser)
|
rs769308083
|
0.00007
|
|
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)
|
rs1431475890
|
0.00007
|
|
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)
|
rs150304121
|
0.00007
|
|
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln)
|
rs367729589
|
0.00007
|
|
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His)
|
rs138640226
|
0.00007
|
|
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met)
|
rs201220016
|
0.00007
|
|
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)
|
rs776724595
|
0.00007
|
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
|
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
|
rs141859334
|
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_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)
|
rs376680136
|
0.00007
|
|
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)
|
rs758323919
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00007
|
|
NM_001129.5(AEBP1):c.2117A>T (p.Asn706Ile)
|
rs200174513
|
0.00007
|
|
NM_001130987.2(DYSF):c.1449+3G>A
|
rs764771218
|
0.00007
|
|
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)
|
rs143632564
|
0.00007
|
|
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)
|
rs201622087
|
0.00007
|
|
NM_001130987.2(DYSF):c.3883A>C (p.Ile1295Leu)
|
rs555343068
|
0.00007
|
|
NM_001130987.2(DYSF):c.4054A>G (p.Ile1352Val)
|
rs146242836
|
0.00007
|
|
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)
|
rs151054827
|
0.00007
|
|
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)
|
rs147876220
|
0.00007
|
|
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg)
|
rs539194432
|
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.2128G>C (p.Asp710His)
|
rs747544978
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His)
|
rs766820906
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.4579C>T (p.Arg1527Cys)
|
rs372575738
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.4776-15G>A
|
rs370528699
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.5116G>A (p.Gly1706Ser)
|
rs773223277
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.5249G>C (p.Gly1750Ala)
|
rs1333711262
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.5403G>A (p.Leu1801=)
|
rs751878719
|
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.10005G>A (p.Met3335Ile)
|
rs375830667
|
0.00007
|
|
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn)
|
rs766876980
|
0.00007
|
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00007
|
|
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)
|
rs577939684
|
0.00007
|
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
|
NM_001164508.2(NEB):c.20447G>A (p.Arg6816Gln)
|
rs199875722
|
0.00007
|
|
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175
|
0.00007
|
|
NM_001164508.2(NEB):c.2354A>G (p.His785Arg)
|
rs370296542
|
0.00007
|
|
NM_001164508.2(NEB):c.25027C>T (p.Arg8343Trp)
|
rs374413679
|
0.00007
|
|
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)
|
rs776231831
|
0.00007
|
|
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067
|
0.00007
|
|
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424
|
0.00007
|
|
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys)
|
rs148371904
|
0.00007
|
|
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu)
|
rs371562840
|
0.00007
|
|
NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile)
|
rs200184645
|
0.00007
|
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
|
NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys)
|
rs200236385
|
0.00007
|
|
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu)
|
rs72629788
|
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.105490C>T (p.Arg35164Cys)
|
rs200123047
|
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.15814G>A (p.Val5272Met)
|
rs746406893
|
0.00007
|
|
NM_001267550.2(TTN):c.17237C>G (p.Thr5746Arg)
|
rs775732793
|
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.21789G>C (p.Trp7263Cys)
|
rs377544260
|
0.00007
|
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00007
|
|
NM_001267550.2(TTN):c.25613C>T (p.Ser8538Phe)
|
rs375170912
|
0.00007
|
|
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)
|
rs550882549
|
0.00007
|
|
NM_001267550.2(TTN):c.25708G>A (p.Glu8570Lys)
|
rs552462622
|
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.35185G>A (p.Glu11729Lys)
|
rs762444896
|
0.00007
|
|
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile)
|
rs774557269
|
0.00007
|
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
|
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)
|
rs759406486
|
0.00007
|
|
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)
|
rs376278449
|
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.59242C>T (p.Arg19748Trp)
|
rs780429608
|
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.62290G>C (p.Glu20764Gln)
|
rs397517651
|
0.00007
|
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
|
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)
|
rs372267046
|
0.00007
|
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00007
|
|
NM_001267550.2(TTN):c.64535A>T (p.His21512Leu)
|
rs774754081
|
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.71944A>G (p.Asn23982Asp)
|
rs199755820
|
0.00007
|
|
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)
|
rs202098308
|
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.73073A>T (p.Tyr24358Phe)
|
rs368124487
|
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.80733T>G (p.Ile26911Met)
|
rs371965190
|
0.00007
|
|
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)
|
rs377264123
|
0.00007
|
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00007
|
|
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile)
|
rs756561910
|
0.00007
|
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00007
|
|
NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile)
|
rs200413367
|
0.00007
|
|
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)
|
rs762265902
|
0.00007
|
|
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met)
|
rs756469423
|
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_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln)
|
rs375593361
|
0.00007
|
|
NM_001287.6(CLCN7):c.2134C>G (p.Arg712Gly)
|
rs368724913
|
0.00007
|
|
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)
|
rs764439865
|
0.00007
|
|
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)
|
rs201150987
|
0.00007
|
|
NM_001330360.2(POLA1):c.356G>T (p.Gly119Val)
|
rs753240350
|
0.00007
|
|
NM_001348716.2(KDM6B):c.587C>T (p.Pro196Leu)
|
rs199557636
|
0.00007
|
|
NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)
|
rs142736839
|
0.00007
|
|
NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)
|
rs200542850
|
0.00007
|
|
NM_001353812.2(ATP11C):c.3063A>G (p.Ile1021Met)
|
rs151005790
|
0.00007
|
|
NM_001355436.2(SPTB):c.1493G>A (p.Arg498His)
|
rs140796444
|
0.00007
|
|
NM_001355436.2(SPTB):c.2149C>T (p.Arg717Cys)
|
rs538347576
|
0.00007
|
|
NM_001355436.2(SPTB):c.3071C>T (p.Ser1024Leu)
|
rs190108600
|
0.00007
|
|
NM_001355436.2(SPTB):c.3228G>T (p.Trp1076Cys)
|
rs45507992
|
0.00007
|
|
NM_001355436.2(SPTB):c.4555A>C (p.Lys1519Gln)
|
rs200187680
|
0.00007
|
|
NM_001355436.2(SPTB):c.6503C>T (p.Thr2168Met)
|
rs191850273
|
0.00007
|
|
NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser)
|
rs369052118
|
0.00007
|
|
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)
|
rs202235611
|
0.00007
|
|
NM_001365902.3(NFIX):c.28-354_28-347dup
|
rs772688459
|
0.00007
|
|
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)
|
rs373062274
|
0.00007
|
|
NM_001365999.1(SZT2):c.9049A>G (p.Met3017Val)
|
rs143624137
|
0.00007
|
|
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)
|
rs755066385
|
0.00007
|
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00007
|
|
NM_001369268.1(ACAN):c.2902T>C (p.Ser968Pro)
|
rs568435726
|
0.00007
|
|
NM_001371986.1(UNC80):c.3149C>T (p.Thr1050Ile)
|
rs577704301
|
0.00007
|
|
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr)
|
rs181542503
|
0.00007
|
|
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
|
rs182542991
|
0.00007
|
|
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
|
rs762682968
|
0.00007
|
|
NM_001377304.1(GFI1B):c.648G>C (p.Gln216His)
|
rs373796028
|
0.00007
|
|
NM_001378418.1(TCF20):c.442G>A (p.Gly148Ser)
|
rs143676414
|
0.00007
|
|
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile)
|
rs370701686
|
0.00007
|
|
NM_001378964.1(CDON):c.2383G>A (p.Val795Ile)
|
rs148081735
|
0.00007
|
|
NM_001385012.1(NBEA):c.6248G>A (p.Arg2083His)
|
rs201478045
|
0.00007
|
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
|
NM_001458.5(FLNC):c.1492A>G (p.Lys498Glu)
|
rs781127889
|
0.00007
|
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
|
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys)
|
rs138663492
|
0.00007
|
|
NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu)
|
rs201912847
|
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_001733.7(C1R):c.450C>A (p.Ser150Arg)
|
rs760553459
|
0.00007
|
|
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
|
rs202209298
|
0.00007
|
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
|
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp)
|
rs777378283
|
0.00007
|
|
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
|
rs770703803
|
0.00007
|
|
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn)
|
rs750512162
|
0.00007
|
|
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)
|
rs568865339
|
0.00007
|
|
NM_001848.3(COL6A1):c.739-5C>G
|
rs369946755
|
0.00007
|
|
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
|
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)
|
rs886043283
|
0.00007
|
|
NM_001852.4(COL9A2):c.1282G>C (p.Asp428His)
|
rs375240237
|
0.00007
|
|
NM_001868.4(CPA1):c.1208C>T (p.Thr403Met)
|
rs141400125
|
0.00007
|
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
rs569816517
|
0.00007
|
|
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp)
|
rs146409569
|
0.00007
|
|
NM_002206.3(ITGA7):c.1625G>A (p.Arg542His)
|
rs17854598
|
0.00007
|
|
NM_002206.3(ITGA7):c.260G>A (p.Arg87His)
|
rs775800333
|
0.00007
|
|
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)
|
rs201622697
|
0.00007
|
|
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)
|
rs138238230
|
0.00007
|
|
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)
|
rs759520932
|
0.00007
|
|
NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val)
|
rs772621139
|
0.00007
|
|
NM_002615.7(SERPINF1):c.446G>A (p.Arg149His)
|
rs555882903
|
0.00007
|
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
|
NM_002693.3(POLG):c.398A>G (p.Asp133Gly)
|
rs540905618
|
0.00007
|
|
NM_002972.4(SBF1):c.4058A>G (p.Tyr1353Cys)
|
rs373208315
|
0.00007
|
|
NM_003126.4(SPTA1):c.1513G>C (p.Gly505Arg)
|
rs778846612
|
0.00007
|
|
NM_003126.4(SPTA1):c.764A>G (p.Gln255Arg)
|
rs201115611
|
0.00007
|
|
NM_003355.3(UCP2):c.517C>T (p.Arg173Trp)
|
rs572614287
|
0.00007
|
|
NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn)
|
rs763566950
|
0.00007
|
|
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)
|
rs375915416
|
0.00007
|
|
NM_003587.5(DHX16):c.2818C>T (p.Arg940Cys)
|
rs199903836
|
0.00007
|
|
NM_003805.5(CRADD):c.497G>A (p.Arg166His)
|
rs746685035
|
0.00007
|
|
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu)
|
rs17851923
|
0.00007
|
|
NM_003998.4(NFKB1):c.1948G>A (p.Gly650Arg)
|
rs375088091
|
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_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00007
|
|
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His)
|
rs200754925
|
0.00007
|
|
NM_004174.4(SLC9A3):c.1212T>C (p.Ile404=)
|
rs201331870
|
0.00007
|
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
|
NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln)
|
rs774708450
|
0.00007
|
|
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)
|
rs112172548
|
0.00007
|
|
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe)
|
rs779028054
|
0.00007
|
|
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)
|
rs140863092
|
0.00007
|
|
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)
|
rs149838946
|
0.00007
|
|
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
|
rs531282669
|
0.00007
|
|
NM_004369.4(COL6A3):c.6627+3G>A
|
rs780942905
|
0.00007
|
|
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)
|
rs777496872
|
0.00007
|
|
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)
|
rs368568929
|
0.00007
|
|
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)
|
rs200698641
|
0.00007
|
|
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)
|
rs376514006
|
0.00007
|
|
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)
|
rs191996302
|
0.00007
|
|
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)
|
rs34336755
|
0.00007
|
|
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu)
|
rs770985285
|
0.00007
|
|
NM_004393.6(DAG1):c.1708G>A (p.Val570Met)
|
rs370669533
|
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_004643.4(PABPN1):c.-1G>T
|
rs947151586
|
0.00007
|
|
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys)
|
rs375384257
|
0.00007
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
0.00007
|
|
NM_005198.5(CHKB):c.668G>A (p.Gly223Asp)
|
rs369606974
|
0.00007
|
|
NM_005529.7(HSPG2):c.1172A>G (p.Glu391Gly)
|
rs544225589
|
0.00007
|
|
NM_005529.7(HSPG2):c.1600C>T (p.Arg534Cys)
|
rs201909485
|
0.00007
|
|
NM_005529.7(HSPG2):c.3244G>A (p.Ala1082Thr)
|
rs756700626
|
0.00007
|
|
NM_005529.7(HSPG2):c.3748G>A (p.Ala1250Thr)
|
rs779841547
|
0.00007
|
|
NM_005529.7(HSPG2):c.5434G>A (p.Gly1812Arg)
|
rs775442845
|
0.00007
|
|
NM_005529.7(HSPG2):c.6952G>A (p.Glu2318Lys)
|
rs372259670
|
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_005592.4(MUSK):c.2287G>A (p.Ala763Thr)
|
rs199507468
|
0.00007
|
|
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
|
rs368649966
|
0.00007
|
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
|
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
|
rs200464333
|
0.00007
|
|
NM_005751.5(AKAP9):c.2609G>A (p.Cys870Tyr)
|
rs187255726
|
0.00007
|
|
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
|
rs528226744
|
0.00007
|
|
NM_006363.6(SEC23B):c.1666-3T>C
|
rs190533005
|
0.00007
|
|
NM_006432.5(NPC2):c.-1G>C
|
rs756433737
|
0.00007
|
|
NM_006446.5(SLCO1B1):c.1474T>A (p.Ser492Thr)
|
rs568173893
|
0.00007
|
|
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)
|
rs199562456
|
0.00007
|
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00007
|
|
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
|
rs755783805
|
0.00007
|
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00007
|
|
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln)
|
rs201689564
|
0.00007
|
|
NM_012079.6(DGAT1):c.1187G>A (p.Arg396Gln)
|
rs193169779
|
0.00007
|
|
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)
|
rs866092815
|
0.00007
|
|
NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)
|
rs754376801
|
0.00007
|
|
NM_013382.7(POMT2):c.1552G>A (p.Val518Met)
|
rs200762716
|
0.00007
|
|
NM_013382.7(POMT2):c.640A>C (p.Asn214His)
|
rs376485603
|
0.00007
|
|
NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile)
|
rs773399465
|
0.00007
|
|
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
|
rs146497571
|
0.00007
|
|
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
|
rs139670073
|
0.00007
|
|
NM_014712.3(SETD1A):c.3589C>T (p.Arg1197Cys)
|
rs537371612
|
0.00007
|
|
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu)
|
rs750796286
|
0.00007
|
|
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn)
|
rs748108455
|
0.00007
|
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00007
|
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00007
|
|
NM_015295.3(SMCHD1):c.1031G>A (p.Arg344Gln)
|
rs370983669
|
0.00007
|
|
NM_015295.3(SMCHD1):c.2612C>A (p.Ser871Tyr)
|
rs372975122
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.7411A>G (p.Asn2471Asp)
|
rs868606135
|
0.00007
|
|
NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter)
|
rs574891003
|
0.00007
|
|
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr)
|
rs575240073
|
0.00007
|
|
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser)
|
rs148270782
|
0.00007
|
|
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)
|
rs374630865
|
0.00007
|
|
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn)
|
rs147439455
|
0.00007
|
|
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
|
rs142895576
|
0.00007
|
|
NM_017777.4(MKS1):c.934C>T (p.Arg312Trp)
|
rs767763740
|
0.00007
|
|
NM_017791.3(FLVCR2):c.908G>A (p.Arg303Gln)
|
rs199824003
|
0.00007
|
|
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr)
|
rs780626544
|
0.00007
|
|
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr)
|
rs777352982
|
0.00007
|
|
NM_018344.6(SLC29A3):c.1204G>A (p.Val402Ile)
|
rs1009541174
|
0.00007
|
|
NM_018489.3(ASH1L):c.8641C>T (p.Arg2881Trp)
|
rs190341782
|
0.00007
|
|
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser)
|
rs759475160
|
0.00007
|
|
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg)
|
rs145851409
|
0.00007
|
|
NM_019844.4(SLCO1B3):c.1291G>A (p.Glu431Lys)
|
rs141602442
|
0.00007
|
|
NM_019844.4(SLCO1B3):c.67C>T (p.Arg23Cys)
|
rs369736559
|
0.00007
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
0.00007
|
|
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)
|
rs200683247
|
0.00007
|
|
NM_020451.3(SELENON):c.253A>G (p.Met85Val)
|
rs761605974
|
0.00007
|
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
|
NM_020745.4(AARS2):c.2444C>T (p.Ala815Val)
|
rs138828031
|
0.00007
|
|
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
|
rs560603380
|
0.00007
|
|
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)
|
rs200456950
|
0.00007
|
|
NM_020971.3(SPTBN4):c.4178C>T (p.Ala1393Val)
|
rs747607156
|
0.00007
|
|
NM_020987.5(ANK3):c.5992C>T (p.Arg1998Trp)
|
rs147209108
|
0.00007
|
|
NM_020987.5(ANK3):c.9341T>C (p.Val3114Ala)
|
rs181031970
|
0.00007
|
|
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr)
|
rs373454105
|
0.00007
|
|
NM_021784.5(FOXA2):c.1119A>C (p.Glu373Asp)
|
rs140377203
|
0.00007
|
|
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser)
|
rs141588557
|
0.00007
|
|
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)
|
rs533000838
|
0.00007
|
|
NM_022095.4(ZNF335):c.857G>A (p.Arg286Gln)
|
rs559354455
|
0.00007
|
|
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met)
|
rs201884261
|
0.00007
|
|
NM_022437.3(ABCG8):c.370G>A (p.Gly124Ser)
|
rs143276716
|
0.00007
|
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
0.00007
|
|
NM_024009.3(GJB3):c.311G>A (p.Arg104Gln)
|
rs200690266
|
0.00007
|
|
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala)
|
rs745774108
|
0.00007
|
|
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp)
|
rs552225415
|
0.00007
|
|
NM_024490.4(ATP10A):c.4250C>T (p.Ala1417Val)
|
rs200151540
|
0.00007
|
|
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met)
|
rs539491399
|
0.00007
|
|
NM_024656.4(COLGALT1):c.385G>A (p.Glu129Lys)
|
rs139132596
|
0.00007
|
|
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
|
rs762885961
|
0.00007
|
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00007
|
|
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)
|
rs377119075
|
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_032608.7(MYO18B):c.4399C>T (p.Arg1467Trp)
|
rs200181066
|
0.00007
|
|
NM_032977.4(CASP10):c.684+1G>A
|
rs372539994
|
0.00007
|
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00007
|
|
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln)
|
rs144337813
|
0.00007
|
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
|
NM_053025.4(MYLK):c.2005T>G (p.Phe669Val)
|
rs755957947
|
0.00007
|
|
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln)
|
rs373239430
|
0.00007
|
|
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
|
rs368151265
|
0.00007
|
|
NM_133642.5(LARGE1):c.857G>A (p.Arg286His)
|
rs200035534
|
0.00007
|
|
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
|
rs201057681
|
0.00007
|
|
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
|
rs376914210
|
0.00007
|
|
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg)
|
rs150491625
|
0.00007
|
|
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His)
|
rs369919247
|
0.00007
|
|
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
|
rs146070801
|
0.00007
|
|
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly)
|
rs375322787
|
0.00007
|
|
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)
|
rs753599819
|
0.00007
|
|
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
|
rs368238742
|
0.00007
|
|
NM_144670.6(A2ML1):c.1327C>T (p.Arg443Ter)
|
rs550751327
|
0.00007
|
|
NM_147196.3(TMIE):c.148G>T (p.Val50Leu)
|
rs567795032
|
0.00007
|
|
NM_152383.5(DIS3L2):c.2371G>A (p.Val791Met)
|
rs374080052
|
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_153240.5(NPHP3):c.2986G>A (p.Val996Met)
|
rs150867534
|
0.00007
|
|
NM_170606.3(KMT2C):c.5536G>A (p.Val1846Met)
|
rs61730537
|
0.00007
|
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00007
|
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00007
|
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00007
|
|
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly)
|
rs769974159
|
0.00007
|
|
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp)
|
rs575676072
|
0.00007
|
|
NM_182914.3(SYNE2):c.11843T>C (p.Val3948Ala)
|
rs372848864
|
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.20140G>A (p.Asp6714Asn)
|
rs751000273
|
0.00007
|
|
NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln)
|
rs200847772
|
0.00007
|
|
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
|
rs773994020
|
0.00007
|
|
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val)
|
rs151250199
|
0.00007
|
|
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)
|
rs75153800
|
0.00007
|
|
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)
|
rs147125369
|
0.00007
|
|
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met)
|
rs148158986
|
0.00007
|
|
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)
|
rs140567583
|
0.00007
|
|
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln)
|
rs781427258
|
0.00007
|
|
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met)
|
rs145185413
|
0.00007
|
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
|
NM_182961.4(SYNE1):c.23704G>A (p.Ala7902Thr)
|
rs372990463
|
0.00007
|
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00007
|
|
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)
|
rs369192821
|
0.00007
|
|
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)
|
rs377446250
|
0.00007
|
|
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
|
rs199550235
|
0.00007
|
|
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln)
|
rs374482089
|
0.00007
|
|
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
|
rs201964784
|
0.00007
|
|
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)
|
rs937362854
|
0.00007
|
|
NM_201384.3(PLEC):c.10834C>T (p.Arg3612Trp)
|
rs199983097
|
0.00007
|
|
NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg)
|
rs202037264
|
0.00007
|
|
NM_201384.3(PLEC):c.1123G>A (p.Val375Met)
|
rs199866423
|
0.00007
|
|
NM_201384.3(PLEC):c.12320G>A (p.Arg4107His)
|
rs200585446
|
0.00007
|
|
NM_201384.3(PLEC):c.12830C>T (p.Thr4277Met)
|
rs369593768
|
0.00007
|
|
NM_201384.3(PLEC):c.12979G>A (p.Gly4327Ser)
|
rs368027812
|
0.00007
|
|
NM_201384.3(PLEC):c.13087C>T (p.Arg4363Cys)
|
rs782348944
|
0.00007
|
|
NM_201384.3(PLEC):c.13241G>A (p.Arg4414His)
|
rs373265918
|
0.00007
|
|
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)
|
rs562934299
|
0.00007
|
|
NM_201384.3(PLEC):c.1727G>A (p.Arg576Gln)
|
rs199826059
|
0.00007
|
|
NM_201384.3(PLEC):c.1873G>A (p.Ala625Thr)
|
rs782673175
|
0.00007
|
|
NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro)
|
rs782636181
|
0.00007
|
|
NM_201384.3(PLEC):c.2262C>T (p.Ser754=)
|
rs782261639
|
0.00007
|
|
NM_201384.3(PLEC):c.3283A>G (p.Ile1095Val)
|
rs367688172
|
0.00007
|
|
NM_201384.3(PLEC):c.3527G>A (p.Arg1176His)
|
rs782533009
|
0.00007
|
|
NM_201384.3(PLEC):c.4187G>A (p.Arg1396His)
|
rs148159359
|
0.00007
|
|
NM_201384.3(PLEC):c.4451A>C (p.Glu1484Ala)
|
rs782034460
|
0.00007
|
|
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val)
|
rs782216341
|
0.00007
|
|
NM_201384.3(PLEC):c.5950C>T (p.Arg1984Cys)
|
rs376591955
|
0.00007
|
|
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)
|
rs370347438
|
0.00007
|
|
NM_201384.3(PLEC):c.6535C>T (p.Arg2179Trp)
|
rs372371569
|
0.00007
|
|
NM_201384.3(PLEC):c.6791G>A (p.Arg2264His)
|
rs201661279
|
0.00007
|
|
NM_201384.3(PLEC):c.7034G>A (p.Arg2345Gln)
|
rs541098488
|
0.00007
|
|
NM_201384.3(PLEC):c.7817G>A (p.Arg2606Gln)
|
rs544874132
|
0.00007
|
|
NM_201384.3(PLEC):c.8236C>T (p.Arg2746Trp)
|
rs782075235
|
0.00007
|
|
NM_201384.3(PLEC):c.8492G>A (p.Arg2831Gln)
|
rs377604549
|
0.00007
|
|
NM_201384.3(PLEC):c.9814C>T (p.Arg3272Cys)
|
rs375101631
|
0.00007
|
|
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)
|
rs368318946
|
0.00007
|
|
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly)
|
rs141799673
|
0.00007
|
|
NM_213599.3(ANO5):c.1760G>A (p.Gly587Glu)
|
rs369600326
|
0.00007
|
|
NC_000021.9:g.45405398C>T
|
rs754075778
|
0.00006
|
|
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)
|
rs200376609
|
0.00006
|
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
|
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)
|
rs376357524
|
0.00006
|
|
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile)
|
rs772482624
|
0.00006
|
|
NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)
|
rs758398497
|
0.00006
|
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
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.1020G>T (p.Gly340=)
|
rs372401631
|
0.00006
|
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
|
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)
|
rs138857720
|
0.00006
|
|
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)
|
rs775742866
|
0.00006
|
|
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)
|
rs199470444
|
0.00006
|
|
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys)
|
rs368979094
|
0.00006
|
|
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile)
|
rs200102479
|
0.00006
|
|
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys)
|
rs149083639
|
0.00006
|
|
NM_000080.4(CHRNE):c.406G>A (p.Val136Met)
|
rs773822199
|
0.00006
|
|
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
|
rs200691096
|
0.00006
|
|
NM_000081.4(LYST):c.476G>A (p.Arg159Lys)
|
rs111806240
|
0.00006
|
|
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
|
rs1482156206
|
0.00006
|
|
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro)
|
rs768582911
|
0.00006
|
|
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys)
|
rs143025648
|
0.00006
|
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
0.00006
|
|
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His)
|
rs144820445
|
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_000098.3(CPT2):c.1679G>A (p.Arg560Gln)
|
rs199996641
|
0.00006
|
|
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)
|
rs369369333
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00006
|
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00006
|
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
0.00006
|
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
|
NM_000175.5(GPI):c.1325C>T (p.Thr442Met)
|
rs758328180
|
0.00006
|
|
NM_000178.4(GSS):c.994C>T (p.Arg332Cys)
|
rs568602749
|
0.00006
|
|
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg)
|
rs753372554
|
0.00006
|
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
|
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)
|
rs886042370
|
0.00006
|
|
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser)
|
rs747046381
|
0.00006
|
|
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)
|
rs1452778513
|
0.00006
|
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
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_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
|
NM_000257.4(MYH7):c.4353+5G>A
|
rs200436876
|
0.00006
|
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
|
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)
|
rs767300277
|
0.00006
|
|
NM_000289.6(PFKM):c.1060G>A (p.Val354Met)
|
rs930337550
|
0.00006
|
|
NM_000324.3(RHAG):c.187G>C (p.Val63Leu)
|
rs778934246
|
0.00006
|
|
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp)
|
rs776201356
|
0.00006
|
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
|
NM_000334.4(SCN4A):c.2920G>A (p.Glu974Lys)
|
rs751751228
|
0.00006
|
|
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)
|
rs150158100
|
0.00006
|
|
NM_000334.4(SCN4A):c.365G>A (p.Arg122His)
|
rs374529559
|
0.00006
|
|
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser)
|
rs571210585
|
0.00006
|
|
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys)
|
rs369430918
|
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_000342.4(SLC4A1):c.769G>A (p.Glu257Lys)
|
rs142195740
|
0.00006
|
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
|
NM_000360.4(TH):c.13G>A (p.Asp5Asn)
|
rs777016570
|
0.00006
|
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00006
|
|
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
|
rs868970795
|
0.00006
|
|
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)
|
rs150979829
|
0.00006
|
|
NM_000392.5(ABCC2):c.656G>A (p.Arg219His)
|
rs138121128
|
0.00006
|
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
|
NM_000426.4(LAMA2):c.1546G>A (p.Asp516Asn)
|
rs141000358
|
0.00006
|
|
NM_000426.4(LAMA2):c.1550A>T (p.Glu517Val)
|
rs372358704
|
0.00006
|
|
NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val)
|
rs141521127
|
0.00006
|
|
NM_000426.4(LAMA2):c.2670A>C (p.Lys890Asn)
|
rs201625640
|
0.00006
|
|
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg)
|
rs140895872
|
0.00006
|
|
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)
|
rs368349321
|
0.00006
|
|
NM_000426.4(LAMA2):c.437C>G (p.Ser146Cys)
|
rs143680577
|
0.00006
|
|
NM_000426.4(LAMA2):c.4696C>T (p.Arg1566Cys)
|
rs777964192
|
0.00006
|
|
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)
|
rs760572086
|
0.00006
|
|
NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His)
|
rs142164767
|
0.00006
|
|
NM_000426.4(LAMA2):c.7075C>T (p.Pro2359Ser)
|
rs535022442
|
0.00006
|
|
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)
|
rs970365005
|
0.00006
|
|
NM_000426.4(LAMA2):c.7708A>G (p.Thr2570Ala)
|
rs144901086
|
0.00006
|
|
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe)
|
rs569286697
|
0.00006
|
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
|
NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)
|
rs374047963
|
0.00006
|
|
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
|
rs368299963
|
0.00006
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
rs148181903
|
0.00006
|
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
|
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu)
|
rs775773632
|
0.00006
|
|
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val)
|
rs370630840
|
0.00006
|
|
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly)
|
rs201358408
|
0.00006
|
|
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly)
|
rs201321695
|
0.00006
|
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
|
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu)
|
rs201712715
|
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.2711C>T (p.Pro904Leu)
|
rs544742812
|
0.00006
|
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
|
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln)
|
rs748907487
|
0.00006
|
|
NM_000540.3(RYR1):c.6208G>A (p.Val2070Met)
|
rs749274175
|
0.00006
|
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
|
NM_000540.3(RYR1):c.6796G>C (p.Gly2266Arg)
|
rs772803714
|
0.00006
|
|
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu)
|
rs193922817
|
0.00006
|
|
NM_000540.3(RYR1):c.7992C>T (p.Phe2664=)
|
rs150620191
|
0.00006
|
|
NM_000540.3(RYR1):c.8959G>C (p.Glu2987Gln)
|
rs368065870
|
0.00006
|
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
|
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys)
|
rs754431075
|
0.00006
|
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
0.00006
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
0.00006
|
|
NM_000747.3(CHRNB1):c.694C>A (p.Arg232Ser)
|
rs751294067
|
0.00006
|
|
NM_000747.3(CHRNB1):c.728G>A (p.Arg243His)
|
rs200409941
|
0.00006
|
|
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
|
rs202114705
|
0.00006
|
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00006
|
|
NM_000875.5(IGF1R):c.1401G>A (p.Gly467=)
|
rs202060277
|
0.00006
|
|
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr)
|
rs533670667
|
0.00006
|
|
NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His)
|
rs370459176
|
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_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn)
|
rs776010269
|
0.00006
|
|
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)
|
rs757903559
|
0.00006
|
|
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val)
|
rs371531181
|
0.00006
|
|
NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp)
|
rs757251437
|
0.00006
|
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
|
NM_001080512.3(BICC1):c.706A>C (p.Asn236His)
|
rs147466451
|
0.00006
|
|
NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg)
|
rs145234214
|
0.00006
|
|
NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)
|
rs372089440
|
0.00006
|
|
NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)
|
rs377568553
|
0.00006
|
|
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile)
|
rs146225813
|
0.00006
|
|
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
|
rs145849344
|
0.00006
|
|
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln)
|
rs374503872
|
0.00006
|
|
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)
|
rs116008388
|
0.00006
|
|
NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)
|
rs779413548
|
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_001130987.2(DYSF):c.1329C>A (p.Asn443Lys)
|
rs143355224
|
0.00006
|
|
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)
|
rs376932915
|
0.00006
|
|
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val)
|
rs146261069
|
0.00006
|
|
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)
|
rs539727858
|
0.00006
|
|
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)
|
rs372573603
|
0.00006
|
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
|
NM_001130987.2(DYSF):c.5522A>G (p.Asn1841Ser)
|
rs372204057
|
0.00006
|
|
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)
|
rs144116735
|
0.00006
|
|
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)
|
rs142265349
|
0.00006
|
|
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)
|
rs185617318
|
0.00006
|
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
|
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
|
rs201563082
|
0.00006
|
|
NM_001142864.4(PIEZO1):c.2842C>T (p.Arg948Cys)
|
rs12929515
|
0.00006
|
|
NM_001142864.4(PIEZO1):c.6070C>T (p.Arg2024Cys)
|
rs549757408
|
0.00006
|
|
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
|
rs544281438
|
0.00006
|
|
NM_001142864.4(PIEZO1):c.7157G>A (p.Arg2386His)
|
rs991858063
|
0.00006
|
|
NM_001142966.3(GREB1L):c.2938G>A (p.Asp980Asn)
|
rs774798820
|
0.00006
|
|
NM_001144967.3(NEDD4L):c.1279G>A (p.Gly427Arg)
|
rs141078303
|
0.00006
|
|
NM_001148.6(ANK2):c.4982A>G (p.Lys1661Arg)
|
rs761759361
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
0.00006
|
|
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr)
|
rs202166665
|
0.00006
|
|
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys)
|
rs757640443
|
0.00006
|
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
|
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=)
|
rs375814899
|
0.00006
|
|
NM_001164508.2(NEB):c.10960G>A (p.Gly3654Arg)
|
rs754341838
|
0.00006
|
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00006
|
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
|
NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)
|
rs775058660
|
0.00006
|
|
NM_001164508.2(NEB):c.17519C>T (p.Ala5840Val)
|
rs539856643
|
0.00006
|
|
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566
|
0.00006
|
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00006
|
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
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.3520G>A (p.Ala1174Thr)
|
rs756135837
|
0.00006
|
|
NM_001164508.2(NEB):c.4927G>A (p.Val1643Ile)
|
rs1159171515
|
0.00006
|
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
|
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)
|
rs369275207
|
0.00006
|
|
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys)
|
rs756926807
|
0.00006
|
|
NM_001164508.2(NEB):c.6368C>T (p.Thr2123Met)
|
rs371109129
|
0.00006
|
|
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
|
rs373246130
|
0.00006
|
|
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp)
|
rs1204576083
|
0.00006
|
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
|
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
|
rs142326967
|
0.00006
|
|
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668
|
0.00006
|
|
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr)
|
rs776759120
|
0.00006
|
|
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys)
|
rs758363933
|
0.00006
|
|
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)
|
rs779051005
|
0.00006
|
|
NM_001199563.2(POPDC1):c.184C>G (p.Leu62Val)
|
rs199768718
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.890C>T (p.Thr297Met)
|
rs549181425
|
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.105418G>A (p.Val35140Ile)
|
rs371893623
|
0.00006
|
|
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe)
|
rs763752622
|
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.107357C>T (p.Thr35786Ile)
|
rs749086389
|
0.00006
|
|
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)
|
rs372276487
|
0.00006
|
|
NM_001267550.2(TTN):c.17124G>C (p.Gln5708His)
|
rs373282814
|
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.19697G>C (p.Gly6566Ala)
|
rs1052515116
|
0.00006
|
|
NM_001267550.2(TTN):c.19856A>C (p.Lys6619Thr)
|
rs368720026
|
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.2742G>T (p.Glu914Asp)
|
rs145735907
|
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.28232G>A (p.Gly9411Glu)
|
rs563866126
|
0.00006
|
|
NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr)
|
rs200745162
|
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.43501A>G (p.Thr14501Ala)
|
rs764500643
|
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.48838G>A (p.Ala16280Thr)
|
rs372911542
|
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.49937G>A (p.Arg16646Gln)
|
rs746384579
|
0.00006
|
|
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)
|
rs770902874
|
0.00006
|
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
|
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile)
|
rs749503285
|
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.55661G>A (p.Arg18554Gln)
|
rs202126861
|
0.00006
|
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
|
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile)
|
rs370118111
|
0.00006
|
|
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn)
|
rs576158850
|
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.58208C>G (p.Ala19403Gly)
|
rs573503792
|
0.00006
|
|
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)
|
rs371988490
|
0.00006
|
|
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn)
|
rs369893671
|
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.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.65915G>A (p.Arg21972His)
|
rs200217934
|
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.67606G>A (p.Glu22536Lys)
|
rs371105318
|
0.00006
|
|
NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys)
|
rs760286642
|
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.70975G>A (p.Gly23659Ser)
|
rs376256345
|
0.00006
|
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
|
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp)
|
rs142926566
|
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.78283C>G (p.Pro26095Ala)
|
rs912485960
|
0.00006
|
|
NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile)
|
rs759737599
|
0.00006
|
|
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg)
|
rs727505213
|
0.00006
|
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
|
NM_001267550.2(TTN):c.81038G>A (p.Arg27013Gln)
|
rs376374751
|
0.00006
|
|
NM_001267550.2(TTN):c.83279A>T (p.Asn27760Ile)
|
rs200714263
|
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.851C>T (p.Ser284Leu)
|
rs775566677
|
0.00006
|
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
|
NM_001267550.2(TTN):c.91325A>C (p.Lys30442Thr)
|
rs370086155
|
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.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
|
NM_001267550.2(TTN):c.96526T>A (p.Tyr32176Asn)
|
rs377291343
|
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_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr)
|
rs535612231
|
0.00006
|
|
NM_001267550.2(TTN):c.99517T>A (p.Cys33173Ser)
|
rs773021609
|
0.00006
|
|
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala)
|
rs1442904433
|
0.00006
|
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
0.00006
|
|
NM_001282144.2(NLRX1):c.1468T>A (p.Phe490Ile)
|
rs199768421
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.807+3A>T
|
rs771308299
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4229G>A (p.Arg1410Gln)
|
rs1191478388
|
0.00006
|
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
|
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)
|
rs200854314
|
0.00006
|
|
NM_001348716.2(KDM6B):c.881G>A (p.Arg294His)
|
rs367566006
|
0.00006
|
|
NM_001355436.2(SPTB):c.1328G>A (p.Arg443His)
|
rs752079707
|
0.00006
|
|
NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)
|
rs200787781
|
0.00006
|
|
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp)
|
rs201590426
|
0.00006
|
|
NM_001365308.1(BMPER):c.229G>A (p.Val77Met)
|
rs376317780
|
0.00006
|
|
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)
|
rs41268671
|
0.00006
|
|
NM_001365536.1(SCN9A):c.5956A>G (p.Ser1986Gly)
|
rs200785571
|
0.00006
|
|
NM_001365999.1(SZT2):c.5551C>T (p.Arg1851Trp)
|
rs148100527
|
0.00006
|
|
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala)
|
rs568959118
|
0.00006
|
|
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
|
rs775884734
|
0.00006
|
|
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)
|
rs1800427
|
0.00006
|
|
NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)
|
rs139975681
|
0.00006
|
|
NM_001371986.1(UNC80):c.1112C>T (p.Pro371Leu)
|
rs554862246
|
0.00006
|
|
NM_001371986.1(UNC80):c.1689G>A (p.Lys563=)
|
rs370217639
|
0.00006
|
|
NM_001371986.1(UNC80):c.8543G>A (p.Arg2848His)
|
rs922116561
|
0.00006
|
|
NM_001374828.1(ARID1B):c.*3T>C
|
rs367616374
|
0.00006
|
|
NM_001378183.1(PIEZO2):c.3149C>G (p.Pro1050Arg)
|
rs536129455
|
0.00006
|
|
NM_001378183.1(PIEZO2):c.3317G>A (p.Arg1106Gln)
|
rs200150296
|
0.00006
|
|
NM_001378414.1(HDAC4):c.1604G>A (p.Arg535His)
|
rs553454254
|
0.00006
|
|
NM_001378457.1(DMXL2):c.7393-15T>C
|
rs746954557
|
0.00006
|
|
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val)
|
rs374368341
|
0.00006
|
|
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)
|
rs370198850
|
0.00006
|
|
NM_001379270.1(CNGA1):c.1768A>G (p.Met590Val)
|
rs375049806
|
0.00006
|
|
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
|
rs373105258
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)
|
rs572531886
|
0.00006
|
|
NM_001386125.1(OBSCN):c.10511C>T (p.Thr3504Ile)
|
rs757230970
|
0.00006
|
|
NM_001386125.1(OBSCN):c.15278C>T (p.Thr5093Met)
|
rs368146263
|
0.00006
|
|
NM_001386298.1(CIC):c.4673C>T (p.Ser1558Phe)
|
rs758817184
|
0.00006
|
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
|
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)
|
rs759376455
|
0.00006
|
|
NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser)
|
rs374764212
|
0.00006
|
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
|
NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys)
|
rs562155863
|
0.00006
|
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
|
NM_001567.4(INPPL1):c.2633G>A (p.Arg878His)
|
rs778999359
|
0.00006
|
|
NM_001693.4(ATP6V1B2):c.1140C>G (p.Asp380Glu)
|
rs141260471
|
0.00006
|
|
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)
|
rs372803920
|
0.00006
|
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
|
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)
|
rs764762208
|
0.00006
|
|
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)
|
rs758242849
|
0.00006
|
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
|
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)
|
rs749628937
|
0.00006
|
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
|
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)
|
rs188184732
|
0.00006
|
|
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln)
|
rs757846451
|
0.00006
|
|
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys)
|
rs143338050
|
0.00006
|
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
|
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)
|
rs377376395
|
0.00006
|
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
|
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His)
|
rs544436881
|
0.00006
|
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
|
NM_001854.4(COL11A1):c.1899+3A>G
|
rs374676938
|
0.00006
|
|
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser)
|
rs370589018
|
0.00006
|
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
|
NM_001927.4(DES):c.299A>C (p.Glu100Ala)
|
rs762738069
|
0.00006
|
|
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)
|
rs782012546
|
0.00006
|
|
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu)
|
rs77807333
|
0.00006
|
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
|
NM_002206.3(ITGA7):c.404G>T (p.Gly135Val)
|
rs745534478
|
0.00006
|
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
|
NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr)
|
rs377388989
|
0.00006
|
|
NM_002386.4(MC1R):c.793G>A (p.Val265Ile)
|
rs587783376
|
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_002691.4(POLD1):c.34G>A (p.Gly12Arg)
|
rs772197667
|
0.00006
|
|
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)
|
rs730881004
|
0.00006
|
|
NM_002976.4(SCN7A):c.559G>A (p.Val187Ile)
|
rs557709889
|
0.00006
|
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
|
NM_003052.5(SLC34A1):c.56G>A (p.Arg19His)
|
rs765766600
|
0.00006
|
|
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)
|
rs563079629
|
0.00006
|
|
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val)
|
rs375610306
|
0.00006
|
|
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp)
|
rs768966753
|
0.00006
|
|
NM_003126.4(SPTA1):c.676G>A (p.Glu226Lys)
|
rs549232925
|
0.00006
|
|
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu)
|
rs747391167
|
0.00006
|
|
NM_003193.5(TBCE):c.650C>T (p.Thr217Met)
|
rs563482935
|
0.00006
|
|
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)
|
rs114872818
|
0.00006
|
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
|
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln)
|
rs772010347
|
0.00006
|
|
NM_003647.3(DGKE):c.626T>C (p.Leu209Pro)
|
rs200253169
|
0.00006
|
|
NM_003673.4(TCAP):c.226C>T (p.Arg76Cys)
|
rs572836774
|
0.00006
|
|
NM_003900.5(SQSTM1):c.205+7G>C
|
rs912066047
|
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_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00006
|
|
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)
|
rs398124071
|
0.00006
|
|
NM_004035.7(ACOX1):c.1756A>G (p.Thr586Ala)
|
rs533088955
|
0.00006
|
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
|
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)
|
rs777100532
|
0.00006
|
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00006
|
|
NM_004304.5(ALK):c.1184G>A (p.Arg395His)
|
rs769910087
|
0.00006
|
|
NM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg)
|
rs528721981
|
0.00006
|
|
NM_004356.4(CD81):c.409G>A (p.Asp137Asn)
|
rs767263004
|
0.00006
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00006
|
|
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu)
|
rs547651808
|
0.00006
|
|
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)
|
rs149330325
|
0.00006
|
|
NM_004369.4(COL6A3):c.1834C>G (p.Pro612Ala)
|
rs150162992
|
0.00006
|
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
|
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)
|
rs147897225
|
0.00006
|
|
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys)
|
rs114852262
|
0.00006
|
|
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)
|
rs147701785
|
0.00006
|
|
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)
|
rs760603443
|
0.00006
|
|
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu)
|
rs372281922
|
0.00006
|
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
|
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)
|
rs201467603
|
0.00006
|
|
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser)
|
rs144152285
|
0.00006
|
|
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)
|
rs748491825
|
0.00006
|
|
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)
|
rs367635298
|
0.00006
|
|
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)
|
rs116655315
|
0.00006
|
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00006
|
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
|
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)
|
rs41269309
|
0.00006
|
|
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
|
rs368397177
|
0.00006
|
|
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)
|
rs758182752
|
0.00006
|
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00006
|
|
NM_004525.3(LRP2):c.3190A>G (p.Asn1064Asp)
|
rs916737558
|
0.00006
|
|
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=)
|
rs574228980
|
0.00006
|
|
NM_004667.6(HERC2):c.13894C>T (p.Arg4632Trp)
|
rs138594015
|
0.00006
|
|
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)
|
rs758618193
|
0.00006
|
|
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)
|
rs780568525
|
0.00006
|
|
NM_004960.4(FUS):c.630G>C (p.Gln210His)
|
rs779124981
|
0.00006
|
|
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)
|
rs373339826
|
0.00006
|
|
NM_005121.3(MED13):c.2291G>A (p.Arg764His)
|
rs777627564
|
0.00006
|
|
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)
|
rs187952822
|
0.00006
|
|
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)
|
rs368064765
|
0.00006
|
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
|
NM_005529.7(HSPG2):c.11185G>A (p.Val3729Met)
|
rs142598196
|
0.00006
|
|
NM_005529.7(HSPG2):c.11770+10G>A
|
rs746954804
|
0.00006
|
|
NM_005529.7(HSPG2):c.2743A>T (p.Thr915Ser)
|
rs981624730
|
0.00006
|
|
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr)
|
rs370487132
|
0.00006
|
|
NM_005529.7(HSPG2):c.9611C>T (p.Thr3204Met)
|
rs138463714
|
0.00006
|
|
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys)
|
rs587780139
|
0.00006
|
|
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
|
rs750032282
|
0.00006
|
|
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
|
rs760531401
|
0.00006
|
|
NM_005677.4(COLQ):c.1019G>A (p.Arg340His)
|
rs375225755
|
0.00006
|
|
NM_005677.4(COLQ):c.1355G>A (p.Arg452His)
|
rs754915644
|
0.00006
|
|
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln)
|
rs778740405
|
0.00006
|
|
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val)
|
rs199971371
|
0.00006
|
|
NM_005909.5(MAP1B):c.5489A>G (p.Tyr1830Cys)
|
rs774902870
|
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_006346.4(PIBF1):c.1931C>T (p.Thr644Met)
|
rs115402574
|
0.00006
|
|
NM_006514.4(SCN10A):c.503C>A (p.Ala168Asp)
|
rs558639346
|
0.00006
|
|
NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)
|
rs762334378
|
0.00006
|
|
NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg)
|
rs138934492
|
0.00006
|
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
|
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)
|
rs138305578
|
0.00006
|
|
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp)
|
rs369398522
|
0.00006
|
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00006
|
|
NM_007126.5(VCP):c.1482+4G>A
|
rs768327051
|
0.00006
|
|
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr)
|
rs145886749
|
0.00006
|
|
NM_012210.4(TRIM32):c.973A>G (p.Met325Val)
|
rs148027625
|
0.00006
|
|
NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln)
|
rs144794750
|
0.00006
|
|
NM_013382.7(POMT2):c.1485-3C>T
|
rs754892193
|
0.00006
|
|
NM_013382.7(POMT2):c.621G>A (p.Met207Ile)
|
rs551885065
|
0.00006
|
|
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)
|
rs779047174
|
0.00006
|
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
0.00006
|
|
NM_014334.4(FRRS1L):c.53T>G (p.Leu18Arg)
|
rs1477068520
|
0.00006
|
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
|
NM_014425.5(INVS):c.2764G>C (p.Val922Leu)
|
rs375031657
|
0.00006
|
|
NM_014714.4(IFT140):c.3829C>T (p.Arg1277Trp)
|
rs369625149
|
0.00006
|
|
NM_014806.5(RUSC2):c.737G>A (p.Gly246Glu)
|
rs894040978
|
0.00006
|
|
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys)
|
rs199745141
|
0.00006
|
|
NM_014875.3(KIF14):c.1273G>A (p.Glu425Lys)
|
rs751402540
|
0.00006
|
|
NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg)
|
rs767455015
|
0.00006
|
|
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His)
|
rs121918302
|
0.00006
|
|
NM_015295.3(SMCHD1):c.2260+3A>G
|
rs374196923
|
0.00006
|
|
NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)
|
rs375795924
|
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_015346.4(ZFYVE26):c.6422C>T (p.Thr2141Met)
|
rs146308319
|
0.00006
|
|
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
|
rs202190131
|
0.00006
|
|
NM_015570.4(AUTS2):c.401C>T (p.Ser134Phe)
|
rs751518329
|
0.00006
|
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
|
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)
|
rs571686284
|
0.00006
|
|
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe)
|
rs201269329
|
0.00006
|
|
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)
|
rs730880972
|
0.00006
|
|
NM_016239.4(MYO15A):c.4038+3A>G
|
rs564616200
|
0.00006
|
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
|
NM_016529.6(ATP8A2):c.-1016T>A
|
rs922248052
|
0.00006
|
|
NM_016580.4(PCDH12):c.3404C>T (p.Ala1135Val)
|
rs199928581
|
0.00006
|
|
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu)
|
rs201925793
|
0.00006
|
|
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr)
|
rs143809867
|
0.00006
|
|
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)
|
rs138265883
|
0.00006
|
|
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
|
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)
|
rs377724143
|
0.00006
|
|
NM_017752.3(TBC1D8B):c.163G>A (p.Asp55Asn)
|
rs146981109
|
0.00006
|
|
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)
|
rs749781761
|
0.00006
|
|
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys)
|
rs374158705
|
0.00006
|
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
|
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
|
rs368342716
|
0.00006
|
|
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe)
|
rs144262689
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
|
NM_019844.4(SLCO1B3):c.2105A>G (p.Asn702Ser)
|
rs368439565
|
0.00006
|
|
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu)
|
rs372947608
|
0.00006
|
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
rs567872241
|
0.00006
|
|
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser)
|
rs761873230
|
0.00006
|
|
NM_020699.4(GATAD2B):c.882C>T (p.Pro294=)
|
rs150972720
|
0.00006
|
|
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)
|
rs200717151
|
0.00006
|
|
NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)
|
rs138073935
|
0.00006
|
|
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr)
|
rs149746031
|
0.00006
|
|
NM_021072.4(HCN1):c.425+7G>T
|
rs759096969
|
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_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
|
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)
|
rs1225225979
|
0.00006
|
|
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu)
|
rs150383310
|
0.00006
|
|
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg)
|
rs533474499
|
0.00006
|
|
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile)
|
rs373484248
|
0.00006
|
|
NM_021956.5(GRIK2):c.1285T>A (p.Ser429Thr)
|
rs767297777
|
0.00006
|
|
NM_021971.4(GMPPB):c.554G>A (p.Arg185His)
|
rs755165049
|
0.00006
|
|
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)
|
rs199661793
|
0.00006
|
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
|
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)
|
rs374012053
|
0.00006
|
|
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp)
|
rs144622073
|
0.00006
|
|
NM_022436.3(ABCG5):c.862G>A (p.Gly288Ser)
|
rs139264483
|
0.00006
|
|
NM_022437.3(ABCG8):c.611G>A (p.Arg204His)
|
rs144730815
|
0.00006
|
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
|
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
|
rs201636421
|
0.00006
|
|
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)
|
rs771333733
|
0.00006
|
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00006
|
|
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)
|
rs777245868
|
0.00006
|
|
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)
|
rs750041378
|
0.00006
|
|
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)
|
rs373035180
|
0.00006
|
|
NM_024528.4(NKAP):c.812A>T (p.Glu271Val)
|
rs375353477
|
0.00006
|
|
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys)
|
rs757012933
|
0.00006
|
|
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)
|
rs142648652
|
0.00006
|
|
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)
|
rs376787713
|
0.00006
|
|
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)
|
rs769471250
|
0.00006
|
|
NM_030948.6(PHACTR1):c.920C>T (p.Pro307Leu)
|
rs376549077
|
0.00006
|
|
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)
|
rs200123403
|
0.00006
|
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys)
|
rs770897158
|
0.00006
|
|
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)
|
rs150453226
|
0.00006
|
|
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
|
rs551385115
|
0.00006
|
|
NM_032776.3(JMJD1C):c.793C>T (p.Arg265Cys)
|
rs200945568
|
0.00006
|
|
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu)
|
rs748576103
|
0.00006
|
|
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
|
rs538507515
|
0.00006
|
|
NM_078629.4(MSL3):c.1552C>T (p.Arg518Trp)
|
rs372729360
|
0.00006
|
|
NM_130849.4(SLC39A4):c.178G>A (p.Gly60Arg)
|
rs558972599
|
0.00006
|
|
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly)
|
rs200024875
|
0.00006
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
rs761150081
|
0.00006
|
|
NM_138422.4(ADAT3):c.874C>T (p.Pro292Ser)
|
rs772924757
|
0.00006
|
|
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu)
|
rs368192130
|
0.00006
|
|
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
|
rs151004903
|
0.00006
|
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
|
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu)
|
rs558530329
|
0.00006
|
|
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met)
|
rs747660857
|
0.00006
|
|
NM_145117.5(NAV2):c.5209C>T (p.Arg1737Cys)
|
rs756916390
|
0.00006
|
|
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln)
|
rs757261515
|
0.00006
|
|
NM_152328.5(ADSS1):c.683T>C (p.Ile228Thr)
|
rs141096426
|
0.00006
|
|
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala)
|
rs147448147
|
0.00006
|
|
NM_170606.3(KMT2C):c.12443C>T (p.Pro4148Leu)
|
rs141718495
|
0.00006
|
|
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser)
|
rs12674022
|
0.00006
|
|
NM_170606.3(KMT2C):c.7372T>C (p.Phe2458Leu)
|
rs375555515
|
0.00006
|
|
NM_173648.4(CCDC141):c.3571G>A (p.Val1191Ile)
|
rs370699879
|
0.00006
|
|
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)
|
rs201953114
|
0.00006
|
|
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala)
|
rs759395609
|
0.00006
|
|
NM_178229.5(IQGAP3):c.970C>T (p.Arg324Ter)
|
rs370129300
|
0.00006
|
|
NM_181552.4(CUX1):c.3949G>A (p.Gly1317Ser)
|
rs373544897
|
0.00006
|
|
NM_181712.5(KANK4):c.2095del (p.Cys699fs)
|
rs775562315
|
0.00006
|
|
NM_181783.4(TMTC3):c.1388A>C (p.Glu463Ala)
|
rs551907406
|
0.00006
|
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
|
NM_181882.3(PRX):c.727G>A (p.Gly243Arg)
|
rs774726424
|
0.00006
|
|
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln)
|
rs752900825
|
0.00006
|
|
NM_182914.3(SYNE2):c.11876C>T (p.Thr3959Ile)
|
rs149790389
|
0.00006
|
|
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser)
|
rs566886977
|
0.00006
|
|
NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn)
|
rs1030213853
|
0.00006
|
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
|
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
|
rs762452734
|
0.00006
|
|
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp)
|
rs570233690
|
0.00006
|
|
NM_182914.3(SYNE2):c.9189G>C (p.Lys3063Asn)
|
rs368489729
|
0.00006
|
|
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly)
|
rs201621810
|
0.00006
|
|
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val)
|
rs145639107
|
0.00006
|
|
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)
|
rs149081144
|
0.00006
|
|
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln)
|
rs1267929537
|
0.00006
|
|
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His)
|
rs561648669
|
0.00006
|
|
NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro)
|
rs201361687
|
0.00006
|
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
|
NM_182961.4(SYNE1):c.22219G>A (p.Ala7407Thr)
|
rs575637225
|
0.00006
|
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
|
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys)
|
rs139885317
|
0.00006
|
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00006
|
|
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
|
rs149606474
|
0.00006
|
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
0.00006
|
|
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys)
|
rs747706541
|
0.00006
|
|
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys)
|
rs367594476
|
0.00006
|
|
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)
|
rs763615170
|
0.00006
|
|
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
|
rs140568392
|
0.00006
|
|
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val)
|
rs373760161
|
0.00006
|
|
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)
|
rs149566858
|
0.00006
|
|
NM_198510.3(ITIH6):c.2398C>T (p.Gln800Ter)
|
rs1300228424
|
0.00006
|
|
NM_198576.4(AGRN):c.4286G>A (p.Arg1429His)
|
rs756082014
|
0.00006
|
|
NM_199242.3(UNC13D):c.1014C>T (p.His338=)
|
rs375097777
|
0.00006
|
|
NM_201384.3(PLEC):c.10025C>T (p.Ser3342Leu)
|
rs538702691
|
0.00006
|
|
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)
|
rs370079447
|
0.00006
|
|
NM_201384.3(PLEC):c.10372C>T (p.Arg3458Trp)
|
rs571305150
|
0.00006
|
|
NM_201384.3(PLEC):c.10852A>G (p.Met3618Val)
|
rs376442504
|
0.00006
|
|
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)
|
rs782531580
|
0.00006
|
|
NM_201384.3(PLEC):c.11477G>A (p.Arg3826His)
|
rs782703019
|
0.00006
|
|
NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn)
|
rs782028739
|
0.00006
|
|
NM_201384.3(PLEC):c.11641C>T (p.Arg3881Cys)
|
rs577333649
|
0.00006
|
|
NM_201384.3(PLEC):c.11642G>A (p.Arg3881His)
|
rs199504789
|
0.00006
|
|
NM_201384.3(PLEC):c.12627C>T (p.Ile4209=)
|
rs372573622
|
0.00006
|
|
NM_201384.3(PLEC):c.13469G>A (p.Arg4490His)
|
rs782151802
|
0.00006
|
|
NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)
|
rs782174299
|
0.00006
|
|
NM_201384.3(PLEC):c.13594G>A (p.Ala4532Thr)
|
rs960253843
|
0.00006
|
|
NM_201384.3(PLEC):c.1439G>A (p.Arg480His)
|
rs781886606
|
0.00006
|
|
NM_201384.3(PLEC):c.2079G>A (p.Val693=)
|
rs371155701
|
0.00006
|
|
NM_201384.3(PLEC):c.2643G>A (p.Thr881=)
|
rs369973592
|
0.00006
|
|
NM_201384.3(PLEC):c.3125G>A (p.Arg1042Gln)
|
rs191154069
|
0.00006
|
|
NM_201384.3(PLEC):c.3209C>T (p.Thr1070Met)
|
rs369199750
|
0.00006
|
|
NM_201384.3(PLEC):c.4286C>T (p.Ser1429Leu)
|
rs782275537
|
0.00006
|
|
NM_201384.3(PLEC):c.4658G>A (p.Arg1553Gln)
|
rs782744995
|
0.00006
|
|
NM_201384.3(PLEC):c.4927C>T (p.Arg1643Trp)
|
rs782034297
|
0.00006
|
|
NM_201384.3(PLEC):c.5026C>T (p.Arg1676Cys)
|
rs549098011
|
0.00006
|
|
NM_201384.3(PLEC):c.5092C>T (p.Arg1698Trp)
|
rs201386659
|
0.00006
|
|
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)
|
rs774270631
|
0.00006
|
|
NM_201384.3(PLEC):c.5635C>T (p.Arg1879Trp)
|
rs782743336
|
0.00006
|
|
NM_201384.3(PLEC):c.5696G>A (p.Arg1899His)
|
rs200751865
|
0.00006
|
|
NM_201384.3(PLEC):c.5942G>A (p.Arg1981Gln)
|
rs782635621
|
0.00006
|
|
NM_201384.3(PLEC):c.5944C>T (p.Arg1982Trp)
|
rs782278361
|
0.00006
|
|
NM_201384.3(PLEC):c.5945G>A (p.Arg1982Gln)
|
rs370788105
|
0.00006
|
|
NM_201384.3(PLEC):c.6398C>T (p.Ala2133Val)
|
rs782011662
|
0.00006
|
|
NM_201384.3(PLEC):c.6455C>T (p.Ala2152Val)
|
rs200758669
|
0.00006
|
|
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val)
|
rs558775133
|
0.00006
|
|
NM_201384.3(PLEC):c.6695C>T (p.Ser2232Leu)
|
rs201367741
|
0.00006
|
|
NM_201384.3(PLEC):c.6701G>A (p.Arg2234His)
|
rs369374252
|
0.00006
|
|
NM_201384.3(PLEC):c.6758C>T (p.Ala2253Val)
|
rs782329522
|
0.00006
|
|
NM_201384.3(PLEC):c.7171G>A (p.Glu2391Lys)
|
rs368939666
|
0.00006
|
|
NM_201384.3(PLEC):c.7633C>T (p.Arg2545Trp)
|
rs782164998
|
0.00006
|
|
NM_201384.3(PLEC):c.7696G>A (p.Val2566Met)
|
rs782743395
|
0.00006
|
|
NM_201384.3(PLEC):c.7829C>T (p.Ala2610Val)
|
rs782085255
|
0.00006
|
|
NM_201384.3(PLEC):c.8728G>A (p.Val2910Met)
|
rs375607727
|
0.00006
|
|
NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys)
|
rs782532815
|
0.00006
|
|
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu)
|
rs200407723
|
0.00006
|
|
NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)
|
rs575568370
|
0.00006
|
|
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu)
|
rs370123223
|
0.00006
|
|
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln)
|
rs148337492
|
0.00006
|
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
|
NM_213599.3(ANO5):c.1361C>T (p.Thr454Met)
|
rs148698633
|
0.00006
|
|
NM_213599.3(ANO5):c.1933C>T (p.Arg645Trp)
|
rs139303302
|
0.00006
|
|
NM_000017.4(ACADS):c.360+49C>T
|
rs748456211
|
0.00005
|
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00005
|
|
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)
|
rs766855169
|
0.00005
|
|
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
|
rs372772903
|
0.00005
|
|
NM_000032.5(ALAS2):c.37G>A (p.Val13Met)
|
rs374128234
|
0.00005
|
|
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser)
|
rs143303551
|
0.00005
|
|
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
|
rs749286592
|
0.00005
|
|
NM_000036.3(AMPD1):c.53G>A (p.Arg18His)
|
rs140601541
|
0.00005
|
|
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
|
rs760254160
|
0.00005
|
|
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
|
rs561134856
|
0.00005
|
|
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
|
rs368279119
|
0.00005
|
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00005
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
0.00005
|
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
|
NM_000070.3(CAPN3):c.1800G>A (p.Lys600=)
|
rs776538598
|
0.00005
|
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00005
|
|
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)
|
rs371166254
|
0.00005
|
|
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro)
|
rs755930521
|
0.00005
|
|
NM_000078.3(CETP):c.544C>T (p.Gln182Ter)
|
rs142750310
|
0.00005
|
|
NM_000080.4(CHRNE):c.1138C>T (p.Arg380Cys)
|
rs376093621
|
0.00005
|
|
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)
|
rs140763858
|
0.00005
|
|
NM_000080.4(CHRNE):c.127C>T (p.Arg43Trp)
|
rs756429518
|
0.00005
|
|
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg)
|
rs375652301
|
0.00005
|
|
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
|
rs141509909
|
0.00005
|
|
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
|
rs1037862310
|
0.00005
|
|
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala)
|
rs202019723
|
0.00005
|
|
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys)
|
rs201506176
|
0.00005
|
|
NM_000093.5(COL5A1):c.2089-62C>T
|
rs748770115
|
0.00005
|
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00005
|
|
NM_000095.3(COMP):c.1993C>T (p.Arg665Trp)
|
rs370202476
|
0.00005
|
|
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)
|
rs201684551
|
0.00005
|
|
NM_000143.4(FH):c.259C>T (p.Arg87Cys)
|
rs139642944
|
0.00005
|
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00005
|
|
NM_000152.5(GAA):c.2189+614T>C
|
rs1021536696
|
0.00005
|
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
|
NM_000162.3(GCK):c.-1460G>A
|
rs534538794
|
0.00005
|
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
|
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
|
rs552424309
|
0.00005
|
|
NM_000178.4(GSS):c.472C>T (p.Arg158Trp)
|
rs761900749
|
0.00005
|
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
|
NM_000188.3(HK1):c.1522G>A (p.Val508Met)
|
rs145718031
|
0.00005
|
|
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
|
rs866224971
|
0.00005
|
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00005
|
|
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala)
|
rs7885041
|
0.00005
|
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
|
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)
|
rs369140365
|
0.00005
|
|
NM_000213.5(ITGB4):c.5183G>A (p.Arg1728His)
|
rs767247375
|
0.00005
|
|
NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)
|
rs375904616
|
0.00005
|
|
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg)
|
rs757491162
|
0.00005
|
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
|
NM_000249.4(MLH1):c.1559-5065T>G
|
rs572182246
|
0.00005
|
|
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
|
rs145233301
|
0.00005
|
|
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)
|
rs876661373
|
0.00005
|
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00005
|
|
NM_000260.4(MYO7A):c.6208C>T (p.Arg2070Trp)
|
rs371848786
|
0.00005
|
|
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)
|
rs376933189
|
0.00005
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
rs371351618
|
0.00005
|
|
NM_000278.5(PAX2):c.478G>A (p.Ala160Thr)
|
rs201383632
|
0.00005
|
|
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
|
rs773001987
|
0.00005
|
|
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
|
rs142495522
|
0.00005
|
|
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
|
rs200252404
|
0.00005
|
|
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
|
rs368147620
|
0.00005
|
|
NM_000310.4(PPT1):c.856G>A (p.Glu286Lys)
|
rs141405110
|
0.00005
|
|
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys)
|
rs565356844
|
0.00005
|
|
NM_000324.3(RHAG):c.791G>A (p.Arg264Gln)
|
rs761362339
|
0.00005
|
|
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln)
|
rs374446143
|
0.00005
|
|
NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile)
|
rs766975288
|
0.00005
|
|
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
|
rs770694096
|
0.00005
|
|
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln)
|
rs202155883
|
0.00005
|
|
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His)
|
rs769704334
|
0.00005
|
|
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr)
|
rs369652972
|
0.00005
|
|
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)
|
rs772552529
|
0.00005
|
|
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys)
|
rs55840505
|
0.00005
|
|
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)
|
rs373741115
|
0.00005
|
|
NM_000384.3(APOB):c.12614C>T (p.Pro4205Leu)
|
rs375471570
|
0.00005
|
|
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg)
|
rs72653074
|
0.00005
|
|
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)
|
rs185224477
|
0.00005
|
|
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp)
|
rs200880556
|
0.00005
|
|
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)
|
rs200877999
|
0.00005
|
|
NM_000426.4(LAMA2):c.3153C>T (p.His1051=)
|
rs765377074
|
0.00005
|
|
NM_000426.4(LAMA2):c.3239A>G (p.Asn1080Ser)
|
rs757867264
|
0.00005
|
|
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro)
|
rs760558443
|
0.00005
|
|
NM_000426.4(LAMA2):c.3695C>A (p.Pro1232His)
|
rs745866291
|
0.00005
|
|
NM_000426.4(LAMA2):c.6883C>T (p.Arg2295Cys)
|
rs773802779
|
0.00005
|
|
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)
|
rs529981007
|
0.00005
|
|
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His)
|
rs548483084
|
0.00005
|
|
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser)
|
rs200341138
|
0.00005
|
|
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)
|
rs201587923
|
0.00005
|
|
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)
|
rs372956200
|
0.00005
|
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
|
NM_000436.4(OXCT1):c.1370C>G (p.Thr457Arg)
|
rs369643387
|
0.00005
|
|
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)
|
rs200370335
|
0.00005
|
|
NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr)
|
rs371183955
|
0.00005
|
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00005
|
|
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)
|
rs562712652
|
0.00005
|
|
NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)
|
rs1364496996
|
0.00005
|
|
NM_000537.4(REN):c.251C>A (p.Thr84Asn)
|
rs370001090
|
0.00005
|
|
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val)
|
rs189249768
|
0.00005
|
|
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met)
|
rs373406011
|
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.14915C>T (p.Thr4972Ile)
|
rs199866740
|
0.00005
|
|
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)
|
rs139006437
|
0.00005
|
|
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)
|
rs753701890
|
0.00005
|
|
NM_000540.3(RYR1):c.3419G>A (p.Arg1140His)
|
rs748318655
|
0.00005
|
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
|
NM_000540.3(RYR1):c.4015G>C (p.Gly1339Arg)
|
rs969582221
|
0.00005
|
|
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)
|
rs146206507
|
0.00005
|
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
|
NM_000540.3(RYR1):c.4858G>A (p.Gly1620Ser)
|
rs190382569
|
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.6910G>A (p.Gly2304Ser)
|
rs377080876
|
0.00005
|
|
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys)
|
rs202111332
|
0.00005
|
|
NM_000540.3(RYR1):c.767G>A (p.Arg256His)
|
rs772767943
|
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.7844G>A (p.Arg2615His)
|
rs145183043
|
0.00005
|
|
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)
|
rs775112172
|
0.00005
|
|
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met)
|
rs781458272
|
0.00005
|
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00005
|
|
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys)
|
rs570674743
|
0.00005
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
rs375915127
|
0.00005
|
|
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)
|
rs779830894
|
0.00005
|
|
NM_000637.5(GSR):c.172G>T (p.Ala58Ser)
|
rs779609339
|
0.00005
|
|
NM_000682.7(ADRA2B):c.628A>G (p.Lys210Glu)
|
rs773036430
|
0.00005
|
|
NM_000682.7(ADRA2B):c.836A>G (p.Asn279Ser)
|
rs553348015
|
0.00005
|
|
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
|
rs771686663
|
0.00005
|
|
NM_000718.4(CACNA1B):c.3149A>T (p.Lys1050Met)
|
rs1002319771
|
0.00005
|
|
NM_000718.4(CACNA1B):c.6173G>A (p.Arg2058His)
|
rs201114958
|
0.00005
|
|
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln)
|
rs201264983
|
0.00005
|
|
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys)
|
rs199984639
|
0.00005
|
|
NM_000814.6(GABRB3):c.650G>A (p.Arg217His)
|
rs121913125
|
0.00005
|
|
NM_001001671.4(MAP3K15):c.2575G>A (p.Ala859Thr)
|
rs867091312
|
0.00005
|
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00005
|
|
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235
|
0.00005
|
|
NM_001005388.3(NFASC):c.1963A>G (p.Asn655Asp)
|
rs747371432
|
0.00005
|
|
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser)
|
rs764843382
|
0.00005
|
|
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
|
rs769688455
|
0.00005
|
|
NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)
|
rs35837994
|
0.00005
|
|
NM_001039591.3(USP9X):c.3946A>G (p.Ile1316Val)
|
rs1470257338
|
0.00005
|
|
NM_001042646.3(TRAK1):c.1490C>T (p.Thr497Met)
|
rs542605152
|
0.00005
|
|
NM_001042681.2(RERE):c.2530C>T (p.Pro844Ser)
|
rs916103964
|
0.00005
|
|
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
|
rs150576860
|
0.00005
|
|
NM_001072.4(UGT1A6):c.29G>A (p.Arg10Lys)
|
rs377223787
|
0.00005
|
|
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
|
rs374402055
|
0.00005
|
|
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)
|
rs886042627
|
0.00005
|
|
NM_001077525.3(MTMR14):c.1082C>T (p.Thr361Ile)
|
rs532720335
|
0.00005
|
|
NM_001077525.3(MTMR14):c.166C>G (p.Arg56Gly)
|
rs377332766
|
0.00005
|
|
NM_001077525.3(MTMR14):c.41G>A (p.Gly14Glu)
|
rs755475489
|
0.00005
|
|
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)
|
rs143748939
|
0.00005
|
|
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val)
|
rs137951613
|
0.00005
|
|
NM_001079872.2(CUL4B):c.920+9G>A
|
rs375607970
|
0.00005
|
|
NM_001080467.3(MYO5B):c.3430A>G (p.Thr1144Ala)
|
rs767178096
|
0.00005
|
|
NM_001080517.3(SETD5):c.2977A>G (p.Met993Val)
|
rs779084293
|
0.00005
|
|
NM_001098511.3(KIF2A):c.1064A>G (p.Tyr355Cys)
|
rs368021683
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
|
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr)
|
rs374054216
|
0.00005
|
|
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783
|
0.00005
|
|
NM_001112.4(ADARB1):c.196C>T (p.Arg66Cys)
|
rs143795052
|
0.00005
|
|
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)
|
rs145590461
|
0.00005
|
|
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)
|
rs767168117
|
0.00005
|
|
NM_001127173.3(CADM3):c.1061A>G (p.Tyr354Cys)
|
rs199545197
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)
|
rs752902118
|
0.00005
|
|
NM_001127392.3(MYRF):c.800A>G (p.Asn267Ser)
|
rs767908100
|
0.00005
|
|
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp)
|
rs146904462
|
0.00005
|
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00005
|
|
NM_001128840.3(CACNA1D):c.1517G>A (p.Arg506His)
|
rs141239749
|
0.00005
|
|
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln)
|
rs150147528
|
0.00005
|
|
NM_001130987.2(DYSF):c.1927G>A (p.Asp643Asn)
|
rs121908960
|
0.00005
|
|
NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys)
|
rs752848496
|
0.00005
|
|
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)
|
rs201209494
|
0.00005
|
|
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)
|
rs752810646
|
0.00005
|
|
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)
|
rs562368641
|
0.00005
|
|
NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met)
|
rs140058659
|
0.00005
|
|
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys)
|
rs138097846
|
0.00005
|
|
NM_001130987.2(DYSF):c.4349C>A (p.Pro1450His)
|
rs142776870
|
0.00005
|
|
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn)
|
rs765027886
|
0.00005
|
|
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val)
|
rs201784424
|
0.00005
|
|
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)
|
rs370286628
|
0.00005
|
|
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp)
|
rs200990851
|
0.00005
|
|
NM_001131016.2(CIZ1):c.703C>T (p.Pro235Ser)
|
rs773783827
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)
|
rs369878342
|
0.00005
|
|
NM_001134673.4(NFIA):c.*66C>T
|
rs188788064
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.1670-4del
|
rs777698716
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.4019G>A (p.Arg1340His)
|
rs529879112
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp)
|
rs970663890
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.5840A>C (p.His1947Pro)
|
rs1015388049
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
|
rs966187471
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.6479C>T (p.Pro2160Leu)
|
rs753068603
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.6868C>T (p.Arg2290Trp)
|
rs1036733100
|
0.00005
|
|
NM_001142864.4(PIEZO1):c.7501G>A (p.Ala2501Thr)
|
rs922432809
|
0.00005
|
|
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)
|
rs781053469
|
0.00005
|
|
NM_001159699.2(FHL1):c.817G>A (p.Val273Met)
|
rs190006104
|
0.00005
|
|
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu)
|
rs199948844
|
0.00005
|
|
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser)
|
rs368536679
|
0.00005
|
|
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)
|
rs200688714
|
0.00005
|
|
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys)
|
rs368003558
|
0.00005
|
|
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
|
rs370050799
|
0.00005
|
|
NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)
|
rs149002761
|
0.00005
|
|
NM_001163809.2(WDR81):c.2559G>C (p.Gln853His)
|
rs564600488
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00005
|
|
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys)
|
rs374359052
|
0.00005
|
|
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His)
|
rs550715282
|
0.00005
|
|
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)
|
rs373850451
|
0.00005
|
|
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
|
rs765184893
|
0.00005
|
|
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val)
|
rs79205344
|
0.00005
|
|
NM_001164508.2(NEB):c.18529C>T (p.Arg6177Cys)
|
rs765644258
|
0.00005
|
|
NM_001164508.2(NEB):c.18694-3T>C
|
rs370200484
|
0.00005
|
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00005
|
|
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284
|
0.00005
|
|
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
|
rs983628895
|
0.00005
|
|
NM_001164508.2(NEB):c.2202G>C (p.Gln734His)
|
rs527492258
|
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.25166G>A (p.Arg8389Gln)
|
rs371783915
|
0.00005
|
|
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)
|
rs561904743
|
0.00005
|
|
NM_001164508.2(NEB):c.4186G>T (p.Ala1396Ser)
|
rs759709450
|
0.00005
|
|
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro)
|
rs781263453
|
0.00005
|
|
NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys)
|
rs950759807
|
0.00005
|
|
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978
|
0.00005
|
|
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
|
rs772257977
|
0.00005
|
|
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844
|
0.00005
|
|
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)
|
rs752349680
|
0.00005
|
|
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val)
|
rs747337656
|
0.00005
|
|
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp)
|
rs368232288
|
0.00005
|
|
NM_001164508.2(NEB):c.7962G>T (p.Leu2654Phe)
|
rs947598445
|
0.00005
|
|
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp)
|
rs779778326
|
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_001170535.3(ATAD3A):c.1508G>A (p.Arg503His)
|
rs202102565
|
0.00005
|
|
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met)
|
rs770332251
|
0.00005
|
|
NM_001183.6(ATP6AP1):c.319G>A (p.Gly107Ser)
|
rs782606567
|
0.00005
|
|
NM_001194998.2(CEP152):c.4093+1G>T
|
rs137967275
|
0.00005
|
|
NM_001199563.2(POPDC1):c.515G>A (p.Arg172His)
|
rs530742250
|
0.00005
|
|
NM_001200.4(BMP2):c.316G>A (p.Ala106Thr)
|
rs2273074
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1276G>A (p.Val426Met)
|
rs531522772
|
0.00005
|
|
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)
|
rs769279843
|
0.00005
|
|
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His)
|
rs753658469
|
0.00005
|
|
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys)
|
rs886039007
|
0.00005
|
|
NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp)
|
rs754873937
|
0.00005
|
|
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg)
|
rs191522469
|
0.00005
|
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00005
|
|
NM_001267550.2(TTN):c.104324G>A (p.Arg34775His)
|
rs750453650
|
0.00005
|
|
NM_001267550.2(TTN):c.104561T>G (p.Val34854Gly)
|
rs768717312
|
0.00005
|
|
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)
|
rs771741670
|
0.00005
|
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
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.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00005
|
|
NM_001267550.2(TTN):c.107093T>C (p.Leu35698Pro)
|
rs794729570
|
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.15253G>A (p.Asp5085Asn)
|
rs374299783
|
0.00005
|
|
NM_001267550.2(TTN):c.1541G>A (p.Arg514Lys)
|
rs139178471
|
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.19441C>A (p.Pro6481Thr)
|
rs73038342
|
0.00005
|
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00005
|
|
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile)
|
rs140143513
|
0.00005
|
|
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu)
|
rs201586695
|
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.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
|
NM_001267550.2(TTN):c.23477T>C (p.Val7826Ala)
|
rs200663337
|
0.00005
|
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00005
|
|
NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser)
|
rs374167223
|
0.00005
|
|
NM_001267550.2(TTN):c.24265G>C (p.Val8089Leu)
|
rs757252230
|
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.26464G>A (p.Ala8822Thr)
|
rs184883436
|
0.00005
|
|
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser)
|
rs776799144
|
0.00005
|
|
NM_001267550.2(TTN):c.27824A>G (p.Tyr9275Cys)
|
rs72648996
|
0.00005
|
|
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln)
|
rs189431308
|
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.30412A>C (p.Asn10138His)
|
rs539637860
|
0.00005
|
|
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)
|
rs553520141
|
0.00005
|
|
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)
|
rs886055288
|
0.00005
|
|
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile)
|
rs372371333
|
0.00005
|
|
NM_001267550.2(TTN):c.33049G>A (p.Glu11017Lys)
|
rs753930002
|
0.00005
|
|
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser)
|
rs565328082
|
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.39427G>A (p.Val13143Ile)
|
rs375956503
|
0.00005
|
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
|
NM_001267550.2(TTN):c.42023C>T (p.Pro14008Leu)
|
rs751709914
|
0.00005
|
|
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys)
|
rs199684560
|
0.00005
|
|
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)
|
rs146241078
|
0.00005
|
|
NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile)
|
rs528741819
|
0.00005
|
|
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His)
|
rs746380621
|
0.00005
|
|
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln)
|
rs770389312
|
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.48296G>A (p.Arg16099Gln)
|
rs376747673
|
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.5665G>T (p.Val1889Phe)
|
rs141105443
|
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.58007A>T (p.Asn19336Ile)
|
rs371851242
|
0.00005
|
|
NM_001267550.2(TTN):c.58073G>A (p.Arg19358His)
|
rs1023184567
|
0.00005
|
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
|
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)
|
rs1187337182
|
0.00005
|
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
|
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)
|
rs371060708
|
0.00005
|
|
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys)
|
rs756303390
|
0.00005
|
|
NM_001267550.2(TTN):c.62570C>T (p.Ala20857Val)
|
rs371982026
|
0.00005
|
|
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His)
|
rs373169150
|
0.00005
|
|
NM_001267550.2(TTN):c.63887G>A (p.Ser21296Asn)
|
rs727503583
|
0.00005
|
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
|
NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys)
|
rs577114038
|
0.00005
|
|
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe)
|
rs779303152
|
0.00005
|
|
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)
|
rs201223583
|
0.00005
|
|
NM_001267550.2(TTN):c.67726G>A (p.Gly22576Ser)
|
rs751016349
|
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.71699G>A (p.Arg23900Gln)
|
rs369292052
|
0.00005
|
|
NM_001267550.2(TTN):c.7180G>C (p.Glu2394Gln)
|
rs537269762
|
0.00005
|
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00005
|
|
NM_001267550.2(TTN):c.72272A>G (p.Asp24091Gly)
|
rs749484938
|
0.00005
|
|
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln)
|
rs750056949
|
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.74597C>G (p.Thr24866Arg)
|
rs940915212
|
0.00005
|
|
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg)
|
rs201839118
|
0.00005
|
|
NM_001267550.2(TTN):c.77348G>A (p.Arg25783Gln)
|
rs777428147
|
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.8312T>C (p.Ile2771Thr)
|
rs780465670
|
0.00005
|
|
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp)
|
rs377540780
|
0.00005
|
|
NM_001267550.2(TTN):c.84383G>A (p.Arg28128His)
|
rs367596354
|
0.00005
|
|
NM_001267550.2(TTN):c.84856G>C (p.Gly28286Arg)
|
rs553949797
|
0.00005
|
|
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)
|
rs774978209
|
0.00005
|
|
NM_001267550.2(TTN):c.85484A>T (p.His28495Leu)
|
rs554119186
|
0.00005
|
|
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser)
|
rs761251825
|
0.00005
|
|
NM_001267550.2(TTN):c.87449T>C (p.Ile29150Thr)
|
rs373106927
|
0.00005
|
|
NM_001267550.2(TTN):c.88214A>G (p.Gln29405Arg)
|
rs777999009
|
0.00005
|
|
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr)
|
rs768292510
|
0.00005
|
|
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile)
|
rs761591533
|
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.93968C>T (p.Ala31323Val)
|
rs200345129
|
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.95716C>G (p.Pro31906Ala)
|
rs755949122
|
0.00005
|
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
|
NM_001267550.2(TTN):c.965G>C (p.Arg322Thr)
|
rs144557211
|
0.00005
|
|
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)
|
rs965156924
|
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.99178A>C (p.Ile33060Leu)
|
rs142108986
|
0.00005
|
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
|
NM_001273.5(CHD4):c.304C>T (p.Arg102Cys)
|
rs138116135
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)
|
rs368842512
|
0.00005
|
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
|
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)
|
rs534473091
|
0.00005
|
|
NM_001292034.3(TAB2):c.1580C>T (p.Ser527Phe)
|
rs371381823
|
0.00005
|
|
NM_001317778.2(SFTPC):c.150T>G (p.Ile50Met)
|
rs768981838
|
0.00005
|
|
NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)
|
rs536406541
|
0.00005
|
|
NM_001330078.2(NRXN1):c.2414A>G (p.Asn805Ser)
|
rs753087756
|
0.00005
|
|
NM_001347721.2(DYRK1A):c.300+3A>G
|
rs1241074832
|
0.00005
|
|
NM_001348323.3(TRIP12):c.4610T>C (p.Ile1537Thr)
|
rs201067731
|
0.00005
|
|
NM_001348716.2(KDM6B):c.2995C>T (p.Arg999Cys)
|
rs778055366
|
0.00005
|
|
NM_001348800.3(ZBTB20):c.2090C>T (p.Pro697Leu)
|
rs754853149
|
0.00005
|
|
NM_001355436.2(SPTB):c.1573G>A (p.Glu525Lys)
|
rs55752508
|
0.00005
|
|
NM_001355436.2(SPTB):c.4912C>T (p.Arg1638Trp)
|
rs368063704
|
0.00005
|
|
NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr)
|
rs112462309
|
0.00005
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
rs782250606
|
0.00005
|
|
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)
|
rs137875815
|
0.00005
|
|
NM_001364905.1(LRBA):c.2164C>T (p.Arg722Cys)
|
rs529536481
|
0.00005
|
|
NM_001365276.2(TNXB):c.6269C>T (p.Pro2090Leu)
|
rs201997500
|
0.00005
|
|
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr)
|
rs199715588
|
0.00005
|
|
NM_001365536.1(SCN9A):c.4142G>A (p.Arg1381Gln)
|
rs202050216
|
0.00005
|
|
NM_001367479.1(DNAH14):c.857T>A (p.Leu286Ter)
|
rs1031615059
|
0.00005
|
|
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
|
rs888948017
|
0.00005
|
|
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)
|
rs200458194
|
0.00005
|
|
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)
|
rs755513516
|
0.00005
|
|
NM_001368397.1(FRMPD4):c.3388G>C (p.Glu1130Gln)
|
rs758573701
|
0.00005
|
|
NM_001371623.1(TCOF1):c.928A>C (p.Thr310Pro)
|
rs1052224591
|
0.00005
|
|
NM_001371928.1(AHDC1):c.3544T>G (p.Phe1182Val)
|
rs201980874
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr)
|
rs772028343
|
0.00005
|
|
NM_001375380.1(EBF3):c.737G>A (p.Arg246His)
|
rs570873800
|
0.00005
|
|
NM_001375524.1(TRRAP):c.5334+3G>A
|
rs202055793
|
0.00005
|
|
NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn)
|
rs200222210
|
0.00005
|
|
NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)
|
rs200034783
|
0.00005
|
|
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys)
|
rs200870508
|
0.00005
|
|
NM_001377229.1(DISP1):c.179G>T (p.Gly60Val)
|
rs201903516
|
0.00005
|
|
NM_001378418.1(TCF20):c.5042C>T (p.Ala1681Val)
|
rs773183893
|
0.00005
|
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
|
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met)
|
rs571909899
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.211C>T (p.Arg71Cys)
|
rs61999352
|
0.00005
|
|
NM_001382567.1(STIM1):c.1394G>A (p.Arg465His)
|
rs375914426
|
0.00005
|
|
NM_001384355.1(RAD21L1):c.743-1G>A
|
rs976067463
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00005
|
|
NM_001385012.1(NBEA):c.4631A>G (p.Asn1544Ser)
|
rs201692550
|
0.00005
|
|
NM_001386298.1(CIC):c.7095C>G (p.Asp2365Glu)
|
rs146337288
|
0.00005
|
|
NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)
|
rs140427755
|
0.00005
|
|
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
0.00005
|
|
NM_001458.5(FLNC):c.2272G>A (p.Val758Met)
|
rs371418145
|
0.00005
|
|
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)
|
rs963838554
|
0.00005
|
|
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)
|
rs370391049
|
0.00005
|
|
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)
|
rs199814952
|
0.00005
|
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
|
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)
|
rs965589915
|
0.00005
|
|
NM_001458.5(FLNC):c.5285G>A (p.Arg1762His)
|
rs779856224
|
0.00005
|
|
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
0.00005
|
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
|
NM_001626.6(AKT2):c.831+4A>G
|
rs770347484
|
0.00005
|
|
NM_001692.4(ATP6V1B1):c.940C>T (p.Arg314Cys)
|
rs147187470
|
0.00005
|
|
NM_001698.3(AUH):c.158G>T (p.Gly53Val)
|
rs747819278
|
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_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
|
rs199536398
|
0.00005
|
|
NM_001846.4(COL4A2):c.461G>A (p.Gly154Glu)
|
rs375700657
|
0.00005
|
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
|
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
|
rs768435283
|
0.00005
|
|
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)
|
rs570688674
|
0.00005
|
|
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)
|
rs746298580
|
0.00005
|
|
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
|
rs146202983
|
0.00005
|
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00005
|
|
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
|
rs757791812
|
0.00005
|
|
NM_001849.4(COL6A2):c.139G>A (p.Val47Met)
|
rs370171967
|
0.00005
|
|
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)
|
rs754196388
|
0.00005
|
|
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser)
|
rs140097446
|
0.00005
|
|
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp)
|
rs747089603
|
0.00005
|
|
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile)
|
rs541785316
|
0.00005
|
|
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)
|
rs145450812
|
0.00005
|
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
|
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr)
|
rs771749652
|
0.00005
|
|
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln)
|
rs777354703
|
0.00005
|
|
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys)
|
rs374196682
|
0.00005
|
|
NM_001916.5(CYC1):c.11C>T (p.Ala4Val)
|
rs548702965
|
0.00005
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
0.00005
|
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
|
NM_002087.4(GRN):c.361G>A (p.Val121Met)
|
rs780731069
|
0.00005
|
|
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln)
|
rs374700658
|
0.00005
|
|
NM_002150.3(HPD):c.415-29G>A
|
rs572003940
|
0.00005
|
|
NM_002160.4(TNC):c.1004G>C (p.Gly335Ala)
|
rs747480225
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs199770424
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met)
|
rs747465472
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
|
rs541833561
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser)
|
rs775514650
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
|
rs746259825
|
0.00005
|
|
NM_002206.3(ITGA7):c.259C>T (p.Arg87Cys)
|
rs140570573
|
0.00005
|
|
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)
|
rs754655315
|
0.00005
|
|
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)
|
rs201687359
|
0.00005
|
|
NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile)
|
rs200303288
|
0.00005
|
|
NM_002449.5(MSX2):c.*46G>T
|
rs375964205
|
0.00005
|
|
NM_002469.3(MYF6):c.172G>A (p.Gly58Arg)
|
rs578239628
|
0.00005
|
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00005
|
|
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)
|
rs139418145
|
0.00005
|
|
NM_002576.5(PAK1):c.1552-2010A>T
|
rs377325525
|
0.00005
|
|
NM_002691.4(POLD1):c.1607C>T (p.Ala536Val)
|
rs779735891
|
0.00005
|
|
NM_002693.3(POLG):c.1761G>A (p.Pro587=)
|
rs374805003
|
0.00005
|
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
|
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)
|
rs78347903
|
0.00005
|
|
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
|
rs370450551
|
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_003126.4(SPTA1):c.1669C>T (p.Arg557Cys)
|
rs143816549
|
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_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln)
|
rs372533502
|
0.00005
|
|
NM_003126.4(SPTA1):c.880A>G (p.Lys294Glu)
|
rs759177674
|
0.00005
|
|
NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp)
|
rs772349873
|
0.00005
|
|
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln)
|
rs755300748
|
0.00005
|
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
|
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser)
|
rs374891900
|
0.00005
|
|
NM_003283.6(TNNT1):c.566G>A (p.Arg189His)
|
rs770079408
|
0.00005
|
|
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)
|
rs372271746
|
0.00005
|
|
NM_003638.3(ITGA8):c.1159G>A (p.Gly387Ser)
|
rs142735096
|
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_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)
|
rs537142935
|
0.00005
|
|
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)
|
rs148294622
|
0.00005
|
|
NM_003906.5(MCM3AP):c.2407G>A (p.Glu803Lys)
|
rs146488499
|
0.00005
|
|
NM_003906.5(MCM3AP):c.5831C>T (p.Thr1944Met)
|
rs141098252
|
0.00005
|
|
NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln)
|
rs199920839
|
0.00005
|
|
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys)
|
rs375983969
|
0.00005
|
|
NM_003923.3(FOXH1):c.859C>T (p.Pro287Ser)
|
rs767657157
|
0.00005
|
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
|
NM_004006.3(DMD):c.146G>A (p.Arg49His)
|
rs765584669
|
0.00005
|
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
|
NM_004006.3(DMD):c.1988C>T (p.Ala663Val)
|
rs41309715
|
0.00005
|
|
NM_004006.3(DMD):c.254A>G (p.Gln85Arg)
|
rs1297662991
|
0.00005
|
|
NM_004006.3(DMD):c.31+92161G>A
|
rs937827317
|
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.7450G>A (p.Asp2484Asn)
|
rs773102625
|
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_004104.5(FASN):c.4633C>T (p.Arg1545Cys)
|
rs150970220
|
0.00005
|
|
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
|
rs536357760
|
0.00005
|
|
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)
|
rs777887810
|
0.00005
|
|
NM_004260.4(RECQL4):c.3011G>A (p.Arg1004Gln)
|
rs750261857
|
0.00005
|
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
|
NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln)
|
rs149334947
|
0.00005
|
|
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro)
|
rs746484055
|
0.00005
|
|
NM_004320.6(ATP2A1):c.2879G>A (p.Arg960Gln)
|
rs771772555
|
0.00005
|
|
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln)
|
rs750195772
|
0.00005
|
|
NM_004366.6(CLCN2):c.1171-3T>C
|
rs777453345
|
0.00005
|
|
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)
|
rs111295967
|
0.00005
|
|
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu)
|
rs754323567
|
0.00005
|
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
|
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile)
|
rs773631759
|
0.00005
|
|
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)
|
rs148488423
|
0.00005
|
|
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)
|
rs112540218
|
0.00005
|
|
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)
|
rs113251155
|
0.00005
|
|
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
|
rs375287084
|
0.00005
|
|
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)
|
rs777454204
|
0.00005
|
|
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln)
|
rs115863049
|
0.00005
|
|
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)
|
rs761653490
|
0.00005
|
|
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)
|
rs199680718
|
0.00005
|
|
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe)
|
rs376517147
|
0.00005
|
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
|
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)
|
rs575168916
|
0.00005
|
|
NM_004370.6(COL12A1):c.4561-3C>T
|
rs1251553746
|
0.00005
|
|
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)
|
rs180718181
|
0.00005
|
|
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)
|
rs770194625
|
0.00005
|
|
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)
|
rs757348453
|
0.00005
|
|
NM_004370.6(COL12A1):c.6608-4G>A
|
rs374995108
|
0.00005
|
|
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)
|
rs367980407
|
0.00005
|
|
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
|
rs200751269
|
0.00005
|
|
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)
|
rs370090007
|
0.00005
|
|
NM_004380.3(CREBBP):c.*929A>G
|
rs766761118
|
0.00005
|
|
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser)
|
rs768983113
|
0.00005
|
|
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)
|
rs375938350
|
0.00005
|
|
NM_004393.6(DAG1):c.1985A>G (p.Asn662Ser)
|
rs149926112
|
0.00005
|
|
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile)
|
rs373950992
|
0.00005
|
|
NM_004595.5(SMS):c.113C>T (p.Ser38Leu)
|
rs377476289
|
0.00005
|
|
NM_004628.5(XPC):c.1246C>T (p.Arg416Cys)
|
rs369928352
|
0.00005
|
|
NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His)
|
rs373727071
|
0.00005
|
|
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
|
rs758608221
|
0.00005
|
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
|
NM_005026.5(PIK3CD):c.2206G>A (p.Asp736Asn)
|
rs547875116
|
0.00005
|
|
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)
|
rs570140663
|
0.00005
|
|
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)
|
rs200892332
|
0.00005
|
|
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)
|
rs770633491
|
0.00005
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
rs200550567
|
0.00005
|
|
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)
|
rs150756111
|
0.00005
|
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00005
|
|
NM_005138.3(SCO2):c.284G>A (p.Arg95His)
|
rs373674489
|
0.00005
|
|
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe)
|
rs371355721
|
0.00005
|
|
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
|
rs764883573
|
0.00005
|
|
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)
|
rs200251893
|
0.00005
|
|
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
|
rs150291286
|
0.00005
|
|
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
|
rs369834016
|
0.00005
|
|
NM_005476.7(GNE):c.23G>A (p.Arg8Gln)
|
rs763057654
|
0.00005
|
|
NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu)
|
rs763711047
|
0.00005
|
|
NM_005529.7(HSPG2):c.10633G>A (p.Val3545Ile)
|
rs538111168
|
0.00005
|
|
NM_005529.7(HSPG2):c.1115A>G (p.Gln372Arg)
|
rs200224754
|
0.00005
|
|
NM_005529.7(HSPG2):c.12666-4G>A
|
rs575126803
|
0.00005
|
|
NM_005529.7(HSPG2):c.2599G>A (p.Gly867Arg)
|
rs147301154
|
0.00005
|
|
NM_005529.7(HSPG2):c.4126G>A (p.Val1376Met)
|
rs372148118
|
0.00005
|
|
NM_005529.7(HSPG2):c.4493C>T (p.Ser1498Phe)
|
rs367579432
|
0.00005
|
|
NM_005529.7(HSPG2):c.4654G>A (p.Gly1552Arg)
|
rs746057768
|
0.00005
|
|
NM_005529.7(HSPG2):c.4813G>A (p.Gly1605Arg)
|
rs370427626
|
0.00005
|
|
NM_005529.7(HSPG2):c.5657G>A (p.Arg1886His)
|
rs370745167
|
0.00005
|
|
NM_005529.7(HSPG2):c.5746G>A (p.Gly1916Ser)
|
rs200826897
|
0.00005
|
|
NM_005529.7(HSPG2):c.598A>T (p.Thr200Ser)
|
rs199604790
|
0.00005
|
|
NM_005529.7(HSPG2):c.599C>T (p.Thr200Met)
|
rs201288550
|
0.00005
|
|
NM_005529.7(HSPG2):c.7130G>A (p.Arg2377His)
|
rs191687773
|
0.00005
|
|
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu)
|
rs369712921
|
0.00005
|
|
NM_005529.7(HSPG2):c.8287C>T (p.Arg2763Cys)
|
rs775757447
|
0.00005
|
|
NM_005529.7(HSPG2):c.9938G>C (p.Gly3313Ala)
|
rs774187745
|
0.00005
|
|
NM_005548.3(KARS1):c.1051A>G (p.Met351Val)
|
rs773381161
|
0.00005
|
|
NM_005559.4(LAMA1):c.3391G>A (p.Glu1131Lys)
|
rs773505947
|
0.00005
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
rs143206293
|
0.00005
|
|
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg)
|
rs754940511
|
0.00005
|
|
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg)
|
rs201591132
|
0.00005
|
|
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys)
|
rs146264747
|
0.00005
|
|
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro)
|
rs200008141
|
0.00005
|
|
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp)
|
rs781096883
|
0.00005
|
|
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu)
|
rs572123043
|
0.00005
|
|
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu)
|
rs769852846
|
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_006269.2(RP1):c.1380G>C (p.Lys460Asn)
|
rs143494598
|
0.00005
|
|
NM_006279.5(ST3GAL3):c.945C>T (p.Asp315=)
|
rs748922857
|
0.00005
|
|
NM_006363.6(SEC23B):c.1202G>A (p.Arg401Gln)
|
rs562857254
|
0.00005
|
|
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
|
rs765842157
|
0.00005
|
|
NM_006379.5(SEMA3C):c.1348G>A (p.Gly450Arg)
|
rs367759300
|
0.00005
|
|
NM_006514.4(SCN10A):c.4585G>A (p.Ala1529Thr)
|
rs757916036
|
0.00005
|
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00005
|
|
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
|
rs769899629
|
0.00005
|
|
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)
|
rs199586863
|
0.00005
|
|
NM_006767.4(LZTR1):c.824G>A (p.Arg275Gln)
|
rs778001313
|
0.00005
|
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00005
|
|
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln)
|
rs774195502
|
0.00005
|
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
|
NM_006946.4(SPTBN2):c.6274G>A (p.Glu2092Lys)
|
rs773275665
|
0.00005
|
|
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg)
|
rs751313483
|
0.00005
|
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
|
NM_007254.4(PNKP):c.1387-48_1387-32del
|
rs537912514
|
0.00005
|
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
|
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)
|
rs183136193
|
0.00005
|
|
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)
|
rs200326473
|
0.00005
|
|
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
|
rs539376933
|
0.00005
|
|
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)
|
rs145907585
|
0.00005
|
|
NM_013382.7(POMT2):c.1574A>G (p.Lys525Arg)
|
rs767137783
|
0.00005
|
|
NM_014284.3(NCDN):c.490G>A (p.Gly164Ser)
|
rs1376202214
|
0.00005
|
|
NM_014704.4(CEP104):c.2683G>A (p.Ala895Thr)
|
rs372708011
|
0.00005
|
|
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala)
|
rs760840197
|
0.00005
|
|
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn)
|
rs374963939
|
0.00005
|
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
|
NM_014991.6(WDFY3):c.6208G>T (p.Asp2070Tyr)
|
rs556847730
|
0.00005
|
|
NM_015001.3(SPEN):c.7403C>T (p.Pro2468Leu)
|
rs747302435
|
0.00005
|
|
NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)
|
rs200431570
|
0.00005
|
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00005
|
|
NM_015151.4(DIP2A):c.1919C>T (p.Pro640Leu)
|
rs776089050
|
0.00005
|
|
NM_015158.5(KANK1):c.1225A>G (p.Met409Val)
|
rs781031033
|
0.00005
|
|
NM_015267.4(CUX2):c.1006G>A (p.Ala336Thr)
|
rs375793621
|
0.00005
|
|
NM_015267.4(CUX2):c.1287C>G (p.Ile429Met)
|
rs541115635
|
0.00005
|
|
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
|
rs374884525
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)
|
rs779264975
|
0.00005
|
|
NM_015466.4(PTPN23):c.2628G>A (p.Ala876=)
|
rs141082182
|
0.00005
|
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
|
NM_015512.5(DNAH1):c.12017A>C (p.Gln4006Pro)
|
rs369197857
|
0.00005
|
|
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)
|
rs201474295
|
0.00005
|
|
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)
|
rs200495464
|
0.00005
|
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
|
NM_015692.5(CPAMD8):c.1994C>T (p.Thr665Met)
|
rs377525832
|
0.00005
|
|
NM_015721.3(GEMIN4):c.3032G>A (p.Cys1011Tyr)
|
rs201739673
|
0.00005
|
|
NM_016148.5(SHANK1):c.6106C>T (p.Arg2036Cys)
|
rs764924872
|
0.00005
|
|
NM_016360.4(TACO1):c.814G>A (p.Asp272Asn)
|
rs748093783
|
0.00005
|
|
NM_016553.5(NUP62):c.296T>C (p.Leu99Ser)
|
rs1202628580
|
0.00005
|
|
NM_016615.5(SLC6A13):c.871G>A (p.Ala291Thr)
|
rs373477459
|
0.00005
|
|
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)
|
rs376478405
|
0.00005
|
|
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
|
rs151164070
|
0.00005
|
|
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His)
|
rs781136210
|
0.00005
|
|
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln)
|
rs145438977
|
0.00005
|
|
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)
|
rs377385495
|
0.00005
|
|
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala)
|
rs912089271
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)
|
rs764921648
|
0.00005
|
|
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn)
|
rs766087007
|
0.00005
|
|
NM_017662.5(TRPM6):c.218C>T (p.Ala73Val)
|
rs778083572
|
0.00005
|
|
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)
|
rs542798158
|
0.00005
|
|
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)
|
rs746638187
|
0.00005
|
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
|
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser)
|
rs750258756
|
0.00005
|
|
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)
|
rs576139929
|
0.00005
|
|
NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)
|
rs200125217
|
0.00005
|
|
NM_018263.6(ASXL2):c.419C>T (p.Pro140Leu)
|
rs565110158
|
0.00005
|
|
NM_018417.6(ADCY10):c.2404C>A (p.Leu802Met)
|
rs145800991
|
0.00005
|
|
NM_018489.3(ASH1L):c.4871G>A (p.Arg1624Gln)
|
rs931459501
|
0.00005
|
|
NM_018714.3(COG1):c.164G>C (p.Arg55Pro)
|
rs751859972
|
0.00005
|
|
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu)
|
rs757227515
|
0.00005
|
|
NM_018972.4(GDAP1):c.655G>A (p.Val219Ile)
|
rs373127785
|
0.00005
|
|
NM_018972.4(GDAP1):c.841G>A (p.Glu281Lys)
|
rs368650217
|
0.00005
|
|
NM_018979.4(WNK1):c.4703A>C (p.His1568Pro)
|
rs776834411
|
0.00005
|
|
NM_019032.6(ADAMTSL4):c.1118C>A (p.Ala373Asp)
|
rs749157895
|
0.00005
|
|
NM_020318.3(PAPPA2):c.3798+10C>A
|
rs571328301
|
0.00005
|
|
NM_020376.4(PNPLA2):c.803G>A (p.Arg268His)
|
rs774382796
|
0.00005
|
|
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
|
rs1367568012
|
0.00005
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
rs535246705
|
0.00005
|
|
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln)
|
rs758037272
|
0.00005
|
|
NM_020461.4(TUBGCP6):c.4351C>G (p.Leu1451Val)
|
rs577375585
|
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_020754.4(ARHGAP31):c.3596C>T (p.Ala1199Val)
|
rs534166705
|
0.00005
|
|
NM_020754.4(ARHGAP31):c.688C>T (p.Arg230Trp)
|
rs200204811
|
0.00005
|
|
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu)
|
rs371706327
|
0.00005
|
|
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
|
rs377502779
|
0.00005
|
|
NM_020971.3(SPTBN4):c.3047C>A (p.Ala1016Asp)
|
rs531478254
|
0.00005
|
|
NM_020987.5(ANK3):c.7501C>T (p.Arg2501Trp)
|
rs759280618
|
0.00005
|
|
NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln)
|
rs148158107
|
0.00005
|
|
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00005
|
|
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr)
|
rs375379302
|
0.00005
|
|
NM_021942.6(TRAPPC11):c.3254C>T (p.Ala1085Val)
|
rs1028321684
|
0.00005
|
|
NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu)
|
rs746570583
|
0.00005
|
|
NM_021956.5(GRIK2):c.261T>C (p.Asp87=)
|
rs370074245
|
0.00005
|
|
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg)
|
rs145671483
|
0.00005
|
|
NM_021971.4(GMPPB):c.952-14A>G
|
rs747845961
|
0.00005
|
|
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)
|
rs559784211
|
0.00005
|
|
NM_022042.4(SLC26A1):c.1382C>T (p.Pro461Leu)
|
rs376705237
|
0.00005
|
|
NM_022124.6(CDH23):c.4432G>A (p.Glu1478Lys)
|
rs368798550
|
0.00005
|
|
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)
|
rs148540097
|
0.00005
|
|
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp)
|
rs752962014
|
0.00005
|
|
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys)
|
rs569748582
|
0.00005
|
|
NM_022552.5(DNMT3A):c.1138G>A (p.Ala380Thr)
|
rs762563426
|
0.00005
|
|
NM_022662.4(ANAPC1):c.236G>A (p.Gly79Glu)
|
rs375937187
|
0.00005
|
|
NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)
|
rs560560352
|
0.00005
|
|
NM_024301.5(FKRP):c.295G>A (p.Val99Met)
|
rs776733780
|
0.00005
|
|
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)
|
rs768762059
|
0.00005
|
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00005
|
|
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met)
|
rs371666279
|
0.00005
|
|
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)
|
rs201100122
|
0.00005
|
|
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
|
rs567173388
|
0.00005
|
|
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr)
|
rs145189350
|
0.00005
|
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
|
NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser)
|
rs773144833
|
0.00005
|
|
NM_030773.4(TUBB1):c.997G>A (p.Val333Met)
|
rs775146221
|
0.00005
|
|
NM_030957.4(ADAMTS10):c.629G>A (p.Arg210Gln)
|
rs782280501
|
0.00005
|
|
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)
|
rs144105841
|
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_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00005
|
|
NM_032237.5(POMK):c.256C>T (p.Arg86Cys)
|
rs370978230
|
0.00005
|
|
NM_032237.5(POMK):c.407C>T (p.Thr136Met)
|
rs138216719
|
0.00005
|
|
NM_032242.4(PLXNA1):c.5596-8C>T
|
rs557203949
|
0.00005
|
|
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)
|
rs139757085
|
0.00005
|
|
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
|
rs140529288
|
0.00005
|
|
NM_032608.7(MYO18B):c.3991C>A (p.Gln1331Lys)
|
rs796661921
|
0.00005
|
|
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
|
rs199601484
|
0.00005
|
|
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)
|
rs567130416
|
0.00005
|
|
NM_032776.3(JMJD1C):c.4852G>A (p.Ala1618Thr)
|
rs201271782
|
0.00005
|
|
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
|
rs375811228
|
0.00005
|
|
NM_032977.4(CASP10):c.1093del (p.Tyr365fs)
|
rs781003519
|
0.00005
|
|
NM_052867.4(NALCN):c.2294+3A>T
|
rs750031720
|
0.00005
|
|
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
|
rs201112408
|
0.00005
|
|
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His)
|
rs371071263
|
0.00005
|
|
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
|
rs771499820
|
0.00005
|
|
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met)
|
rs138676820
|
0.00005
|
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00005
|
|
NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)
|
rs141837186
|
0.00005
|
|
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys)
|
rs776161817
|
0.00005
|
|
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
|
rs199956917
|
0.00005
|
|
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
|
rs367710415
|
0.00005
|
|
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
|
rs370757859
|
0.00005
|
|
NM_139284.3(LGI4):c.632T>A (p.Leu211Gln)
|
rs537669079
|
0.00005
|
|
NM_139285.4(GAS2L2):c.2207C>T (p.Pro736Leu)
|
rs587600563
|
0.00005
|
|
NM_145064.3(STAC3):c.1022C>T (p.Ala341Val)
|
rs753014378
|
0.00005
|
|
NM_145068.4(TRPV3):c.1676G>A (p.Trp559Ter)
|
rs780591476
|
0.00005
|
|
NM_145725.3(TRAF3):c.628G>A (p.Val210Ile)
|
rs145947234
|
0.00005
|
|
NM_152305.3(POGLUT1):c.1124C>T (p.Thr375Met)
|
rs748170466
|
0.00005
|
|
NM_152328.5(ADSS1):c.409G>C (p.Val137Leu)
|
rs774639898
|
0.00005
|
|
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
|
rs773864097
|
0.00005
|
|
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala)
|
rs375121424
|
0.00005
|
|
NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)
|
rs538466607
|
0.00005
|
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00005
|
|
NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys)
|
rs146398351
|
0.00005
|
|
NM_152743.4(BRAT1):c.1177G>A (p.Ala393Thr)
|
rs35659709
|
0.00005
|
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
|
NM_153252.5(BRWD3):c.2678C>T (p.Ser893Phe)
|
rs1447650667
|
0.00005
|
|
NM_170606.3(KMT2C):c.10144C>T (p.Arg3382Trp)
|
rs375738474
|
0.00005
|
|
NM_170606.3(KMT2C):c.5198C>T (p.Ser1733Leu)
|
rs146495785
|
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_173660.5(DOK7):c.1393A>G (p.Thr465Ala)
|
rs765625554
|
0.00005
|
|
NM_173660.5(DOK7):c.314G>A (p.Arg105His)
|
rs776352781
|
0.00005
|
|
NM_173660.5(DOK7):c.623G>T (p.Gly208Val)
|
rs572714394
|
0.00005
|
|
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
|
rs769289951
|
0.00005
|
|
NM_177402.5(SYT2):c.2T>C (p.Met1Thr)
|
rs374727200
|
0.00005
|
|
NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp)
|
rs368870111
|
0.00005
|
|
NM_182914.3(SYNE2):c.12407C>T (p.Ser4136Leu)
|
rs148970735
|
0.00005
|
|
NM_182914.3(SYNE2):c.15115A>G (p.Met5039Val)
|
rs773351367
|
0.00005
|
|
NM_182914.3(SYNE2):c.15667T>A (p.Ser5223Thr)
|
rs150361559
|
0.00005
|
|
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile)
|
rs759251568
|
0.00005
|
|
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser)
|
rs369877790
|
0.00005
|
|
NM_182914.3(SYNE2):c.20144C>T (p.Pro6715Leu)
|
rs572055919
|
0.00005
|
|
NM_182914.3(SYNE2):c.20413G>A (p.Glu6805Lys)
|
rs199923651
|
0.00005
|
|
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
|
rs767299913
|
0.00005
|
|
NM_182914.3(SYNE2):c.5894A>C (p.Lys1965Thr)
|
rs372947939
|
0.00005
|
|
NM_182914.3(SYNE2):c.9976A>C (p.Lys3326Gln)
|
rs747991604
|
0.00005
|
|
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr)
|
rs141719907
|
0.00005
|
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
|
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
|
rs140492158
|
0.00005
|
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00005
|
|
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
|
rs368653411
|
0.00005
|
|
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
|
rs373902612
|
0.00005
|
|
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp)
|
rs368534747
|
0.00005
|
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
|
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His)
|
rs760706012
|
0.00005
|
|
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile)
|
rs760451139
|
0.00005
|
|
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
|
rs374866393
|
0.00005
|
|
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)
|
rs772622270
|
0.00005
|
|
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn)
|
rs748216902
|
0.00005
|
|
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr)
|
rs770713708
|
0.00005
|
|
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)
|
rs759004104
|
0.00005
|
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
|
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)
|
rs769420760
|
0.00005
|
|
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)
|
rs201127061
|
0.00005
|
|
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr)
|
rs756079906
|
0.00005
|
|
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
|
rs373619878
|
0.00005
|
|
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)
|
rs368607560
|
0.00005
|
|
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
|
rs532405862
|
0.00005
|
|
NM_198525.3(KIF7):c.3595C>T (p.Arg1199Cys)
|
rs748917501
|
0.00005
|
|
NM_198576.4(AGRN):c.4124C>T (p.Pro1375Leu)
|
rs750116279
|
0.00005
|
|
NM_201384.3(PLEC):c.10297G>A (p.Val3433Ile)
|
rs782026330
|
0.00005
|
|
NM_201384.3(PLEC):c.10522G>A (p.Asp3508Asn)
|
rs782757717
|
0.00005
|
|
NM_201384.3(PLEC):c.10608G>A (p.Thr3536=)
|
rs782337540
|
0.00005
|
|
NM_201384.3(PLEC):c.10835G>A (p.Arg3612Gln)
|
rs369226598
|
0.00005
|
|
NM_201384.3(PLEC):c.11554G>A (p.Asp3852Asn)
|
rs879965060
|
0.00005
|
|
NM_201384.3(PLEC):c.12017C>T (p.Ser4006Leu)
|
rs200521669
|
0.00005
|
|
NM_201384.3(PLEC):c.12242C>G (p.Thr4081Ser)
|
rs926350647
|
0.00005
|
|
NM_201384.3(PLEC):c.12352C>T (p.Leu4118Phe)
|
rs571797590
|
0.00005
|
|
NM_201384.3(PLEC):c.12562G>A (p.Gly4188Ser)
|
rs782165865
|
0.00005
|
|
NM_201384.3(PLEC):c.13000G>A (p.Asp4334Asn)
|
rs368495183
|
0.00005
|
|
NM_201384.3(PLEC):c.1658C>T (p.Ala553Val)
|
rs745403009
|
0.00005
|
|
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)
|
rs376555091
|
0.00005
|
|
NM_201384.3(PLEC):c.2605G>A (p.Val869Ile)
|
rs782050689
|
0.00005
|
|
NM_201384.3(PLEC):c.2996G>A (p.Cys999Tyr)
|
rs200086907
|
0.00005
|
|
NM_201384.3(PLEC):c.3016C>T (p.Arg1006Cys)
|
rs200484638
|
0.00005
|
|
NM_201384.3(PLEC):c.4211G>A (p.Arg1404Gln)
|
rs372768552
|
0.00005
|
|
NM_201384.3(PLEC):c.4232C>T (p.Ala1411Val)
|
rs781828866
|
0.00005
|
|
NM_201384.3(PLEC):c.4247G>A (p.Arg1416His)
|
rs565291398
|
0.00005
|
|
NM_201384.3(PLEC):c.4292C>T (p.Ala1431Val)
|
rs782438706
|
0.00005
|
|
NM_201384.3(PLEC):c.4352A>G (p.Glu1451Gly)
|
rs782276999
|
0.00005
|
|
NM_201384.3(PLEC):c.4363C>T (p.Arg1455Cys)
|
rs782436596
|
0.00005
|
|
NM_201384.3(PLEC):c.4532G>A (p.Arg1511Gln)
|
rs375947559
|
0.00005
|
|
NM_201384.3(PLEC):c.4744C>T (p.Arg1582Cys)
|
rs782517203
|
0.00005
|
|
NM_201384.3(PLEC):c.4865G>A (p.Arg1622Gln)
|
rs782367469
|
0.00005
|
|
NM_201384.3(PLEC):c.4885C>T (p.Arg1629Trp)
|
rs782761713
|
0.00005
|
|
NM_201384.3(PLEC):c.4981G>A (p.Glu1661Lys)
|
rs782564689
|
0.00005
|
|
NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp)
|
rs567331060
|
0.00005
|
|
NM_201384.3(PLEC):c.5050G>A (p.Val1684Ile)
|
rs760585494
|
0.00005
|
|
NM_201384.3(PLEC):c.5747C>T (p.Thr1916Met)
|
rs781801757
|
0.00005
|
|
NM_201384.3(PLEC):c.5786C>T (p.Ala1929Val)
|
rs782578967
|
0.00005
|
|
NM_201384.3(PLEC):c.5951G>A (p.Arg1984His)
|
rs575072418
|
0.00005
|
|
NM_201384.3(PLEC):c.6322C>T (p.Arg2108Trp)
|
rs782205128
|
0.00005
|
|
NM_201384.3(PLEC):c.6443G>A (p.Arg2148Gln)
|
rs199821611
|
0.00005
|
|
NM_201384.3(PLEC):c.6668G>A (p.Arg2223His)
|
rs565225660
|
0.00005
|
|
NM_201384.3(PLEC):c.6869C>T (p.Ala2290Val)
|
rs782118220
|
0.00005
|
|
NM_201384.3(PLEC):c.6968C>T (p.Thr2323Met)
|
rs550065687
|
0.00005
|
|
NM_201384.3(PLEC):c.7259C>T (p.Thr2420Met)
|
rs185064502
|
0.00005
|
|
NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp)
|
rs781882121
|
0.00005
|
|
NM_201384.3(PLEC):c.8240G>A (p.Arg2747Gln)
|
rs199856296
|
0.00005
|
|
NM_201384.3(PLEC):c.839G>A (p.Arg280His)
|
rs782124459
|
0.00005
|
|
NM_201384.3(PLEC):c.8470G>A (p.Val2824Met)
|
rs201160327
|
0.00005
|
|
NM_201384.3(PLEC):c.8630C>T (p.Thr2877Met)
|
rs201565643
|
0.00005
|
|
NM_201384.3(PLEC):c.8705G>A (p.Arg2902Gln)
|
rs782819280
|
0.00005
|
|
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His)
|
rs369581930
|
0.00005
|
|
NM_201384.3(PLEC):c.9238G>A (p.Glu3080Lys)
|
rs369063949
|
0.00005
|
|
NM_201384.3(PLEC):c.9424G>A (p.Gly3142Ser)
|
rs373523333
|
0.00005
|
|
NM_201384.3(PLEC):c.9580G>A (p.Glu3194Lys)
|
rs529809254
|
0.00005
|
|
NM_201384.3(PLEC):c.9643A>G (p.Lys3215Glu)
|
rs782078326
|
0.00005
|
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
|
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)
|
rs146341538
|
0.00005
|
|
NM_213599.3(ANO5):c.533G>C (p.Ser178Thr)
|
rs146725859
|
0.00005
|
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00004
|
|
NM_000023.4(SGCA):c.467G>A (p.Arg156His)
|
rs558473298
|
0.00004
|
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00004
|
|
NM_000036.3(AMPD1):c.1974+1G>A
|
rs145328844
|
0.00004
|
|
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln)
|
rs200543002
|
0.00004
|
|
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
|
rs149424604
|
0.00004
|
|
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp)
|
rs768332999
|
0.00004
|
|
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
|
rs200898069
|
0.00004
|
|
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
|
rs760518133
|
0.00004
|
|
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
|
rs34727075
|
0.00004
|
|
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
|
rs138642972
|
0.00004
|
|
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)
|
rs372878614
|
0.00004
|
|
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)
|
rs767580738
|
0.00004
|
|
NM_000037.4(ANK1):c.563C>T (p.Thr188Met)
|
rs146346710
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
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_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.1292T>C (p.Val431Ala)
|
rs199625801
|
0.00004
|
|
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala)
|
rs146845466
|
0.00004
|
|
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile)
|
rs755736723
|
0.00004
|
|
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)
|
rs558925493
|
0.00004
|
|
NM_000070.3(CAPN3):c.349A>C (p.Asn117His)
|
rs1011699008
|
0.00004
|
|
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser)
|
rs372515997
|
0.00004
|
|
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)
|
rs771016534
|
0.00004
|
|
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala)
|
rs1336284577
|
0.00004
|
|
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)
|
rs531123327
|
0.00004
|
|
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
|
rs368095341
|
0.00004
|
|
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
|
rs779693060
|
0.00004
|
|
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
|
rs566862751
|
0.00004
|
|
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
|
rs150488664
|
0.00004
|
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
0.00004
|
|
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)
|
rs767209392
|
0.00004
|
|
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu)
|
rs745329674
|
0.00004
|
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
|
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg)
|
rs368447157
|
0.00004
|
|
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser)
|
rs193922170
|
0.00004
|
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
|
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala)
|
rs200399018
|
0.00004
|
|
NM_000098.3(CPT2):c.379G>A (p.Val127Ile)
|
rs199545795
|
0.00004
|
|
NM_000098.3(CPT2):c.800C>T (p.Ser267Leu)
|
rs751888992
|
0.00004
|
|
NM_000123.4(ERCC5):c.1954+5G>A
|
rs112412083
|
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_000136.3(FANCC):c.1634A>G (p.Lys545Arg)
|
rs571668582
|
0.00004
|
|
NM_000136.3(FANCC):c.626G>A (p.Arg209His)
|
rs587778327
|
0.00004
|
|
NM_000138.5(FBN1):c.7261G>A (p.Asp2421Asn)
|
rs778715805
|
0.00004
|
|
NM_000141.5(FGFR2):c.2230C>T (p.Pro744Ser)
|
rs747941020
|
0.00004
|
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00004
|
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
|
NM_000153.4(GALC):c.1861C>T (p.Arg621Cys)
|
rs755930402
|
0.00004
|
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
|
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys)
|
rs577664817
|
0.00004
|
|
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)
|
rs375661583
|
0.00004
|
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00004
|
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00004
|
|
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
|
rs368458579
|
0.00004
|
|
NM_000178.4(GSS):c.1234C>T (p.Arg412Trp)
|
rs767231017
|
0.00004
|
|
NM_000178.4(GSS):c.710G>A (p.Arg237Gln)
|
rs758823167
|
0.00004
|
|
NM_000178.4(GSS):c.817C>T (p.Arg273Cys)
|
rs144955088
|
0.00004
|
|
NM_000188.3(HK1):c.1274G>A (p.Arg425Gln)
|
rs779828856
|
0.00004
|
|
NM_000188.3(HK1):c.1297C>T (p.Arg433Cys)
|
rs768316984
|
0.00004
|
|
NM_000188.3(HK1):c.1474C>T (p.Arg492Trp)
|
rs373626952
|
0.00004
|
|
NM_000188.3(HK1):c.97G>A (p.Asp33Asn)
|
rs375425117
|
0.00004
|
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
|
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu)
|
rs776590488
|
0.00004
|
|
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
|
rs1047330206
|
0.00004
|
|
NM_000203.5(IDUA):c.35C>T (p.Ala12Val)
|
rs1009685278
|
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_000219.6(KCNE1):c.127G>A (p.Glu43Lys)
|
rs755781709
|
0.00004
|
|
NM_000231.3(SGCG):c.670A>G (p.Met224Val)
|
rs372188878
|
0.00004
|
|
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu)
|
rs148525453
|
0.00004
|
|
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser)
|
rs879945095
|
0.00004
|
|
NM_000238.4(KCNH2):c.391G>T (p.Val131Leu)
|
rs142590566
|
0.00004
|
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
|
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)
|
rs149576470
|
0.00004
|
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
|
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)
|
rs779715863
|
0.00004
|
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
|
NM_000257.4(MYH7):c.5495G>A (p.Arg1832His)
|
rs730880820
|
0.00004
|
|
NM_000260.4(MYO7A):c.1400G>A (p.Arg467Gln)
|
rs376061637
|
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_000274.4(OAT):c.773T>A (p.Val258Asp)
|
rs746547714
|
0.00004
|
|
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
|
rs374572664
|
0.00004
|
|
NM_000324.3(RHAG):c.995A>G (p.Asn332Ser)
|
rs774099520
|
0.00004
|
|
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln)
|
rs772546656
|
0.00004
|
|
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp)
|
rs558855276
|
0.00004
|
|
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His)
|
rs375403086
|
0.00004
|
|
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys)
|
rs886053247
|
0.00004
|
|
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val)
|
rs367610608
|
0.00004
|
|
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser)
|
rs957397485
|
0.00004
|
|
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His)
|
rs373278632
|
0.00004
|
|
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu)
|
rs760518441
|
0.00004
|
|
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp)
|
rs756059775
|
0.00004
|
|
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)
|
rs762981322
|
0.00004
|
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
|
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)
|
rs561079654
|
0.00004
|
|
NM_000342.4(SLC4A1):c.2494C>T (p.Arg832Cys)
|
rs571376371
|
0.00004
|
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
|
NM_000363.5(TNNI3):c.308G>A (p.Arg103His)
|
rs371000425
|
0.00004
|
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
|
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)
|
rs536045979
|
0.00004
|
|
NM_000399.5(EGR2):c.665T>C (p.Met222Thr)
|
rs530614586
|
0.00004
|
|
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr)
|
rs774442561
|
0.00004
|
|
NM_000426.4(LAMA2):c.151C>T (p.Leu51Phe)
|
rs764781327
|
0.00004
|
|
NM_000426.4(LAMA2):c.1783C>T (p.Leu595Phe)
|
rs368467579
|
0.00004
|
|
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)
|
rs150361703
|
0.00004
|
|
NM_000426.4(LAMA2):c.2686C>T (p.Arg896Trp)
|
rs764053957
|
0.00004
|
|
NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg)
|
rs141920360
|
0.00004
|
|
NM_000426.4(LAMA2):c.3614C>T (p.Thr1205Met)
|
rs909308611
|
0.00004
|
|
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu)
|
rs754163400
|
0.00004
|
|
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys)
|
rs201632009
|
0.00004
|
|
NM_000426.4(LAMA2):c.6235A>T (p.Thr2079Ser)
|
rs189718453
|
0.00004
|
|
NM_000426.4(LAMA2):c.6236C>T (p.Thr2079Met)
|
rs200928844
|
0.00004
|
|
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile)
|
rs566853691
|
0.00004
|
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
|
NM_000426.4(LAMA2):c.6875A>T (p.Asp2292Val)
|
rs749043823
|
0.00004
|
|
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr)
|
rs779975082
|
0.00004
|
|
NM_000426.4(LAMA2):c.7604G>A (p.Gly2535Asp)
|
rs374210667
|
0.00004
|
|
NM_000426.4(LAMA2):c.7781G>A (p.Arg2594His)
|
rs368311592
|
0.00004
|
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
|
NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln)
|
rs776606476
|
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_000443.4(ABCB4):c.1888A>G (p.Met630Val)
|
rs372476723
|
0.00004
|
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
0.00004
|
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
|
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn)
|
rs753726014
|
0.00004
|
|
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln)
|
rs369422480
|
0.00004
|
|
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)
|
rs145026307
|
0.00004
|
|
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met)
|
rs765758001
|
0.00004
|
|
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser)
|
rs769120898
|
0.00004
|
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
|
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr)
|
rs761125496
|
0.00004
|
|
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)
|
rs959143903
|
0.00004
|
|
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu)
|
rs994374423
|
0.00004
|
|
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=)
|
rs896569937
|
0.00004
|
|
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala)
|
rs752665367
|
0.00004
|
|
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser)
|
rs781766697
|
0.00004
|
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
|
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val)
|
rs143988412
|
0.00004
|
|
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys)
|
rs753907367
|
0.00004
|
|
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)
|
rs763679528
|
0.00004
|
|
NM_000540.3(RYR1):c.2456G>A (p.Arg819Gln)
|
rs752831432
|
0.00004
|
|
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys)
|
rs750233243
|
0.00004
|
|
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys)
|
rs775256033
|
0.00004
|
|
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys)
|
rs766827383
|
0.00004
|
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
|
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His)
|
rs545579559
|
0.00004
|
|
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr)
|
rs766147636
|
0.00004
|
|
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr)
|
rs376567445
|
0.00004
|
|
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met)
|
rs187496208
|
0.00004
|
|
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)
|
rs760625346
|
0.00004
|
|
NM_000540.3(RYR1):c.4657G>A (p.Val1553Ile)
|
rs775732541
|
0.00004
|
|
NM_000540.3(RYR1):c.4748G>A (p.Arg1583His)
|
rs778411704
|
0.00004
|
|
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr)
|
rs1030955858
|
0.00004
|
|
NM_000540.3(RYR1):c.6192G>C (p.Met2064Ile)
|
rs372066850
|
0.00004
|
|
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn)
|
rs772695891
|
0.00004
|
|
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His)
|
rs537994744
|
0.00004
|
|
NM_000540.3(RYR1):c.766C>T (p.Arg256Cys)
|
rs747769229
|
0.00004
|
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
|
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp)
|
rs377541724
|
0.00004
|
|
NM_000540.3(RYR1):c.9967A>G (p.Ile3323Val)
|
rs762667282
|
0.00004
|
|
NM_000542.5(SFTPB):c.*922G>A
|
rs1031733411
|
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.556G>A (p.Glu186Lys)
|
rs367545984
|
0.00004
|
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
|
NM_000637.5(GSR):c.859G>A (p.Val287Met)
|
rs750862066
|
0.00004
|
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1759-4G>A
|
rs374354698
|
0.00004
|
|
NM_000747.3(CHRNB1):c.1027C>A (p.Pro343Thr)
|
rs760292772
|
0.00004
|
|
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
|
rs202144045
|
0.00004
|
|
NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu)
|
rs762250406
|
0.00004
|
|
NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val)
|
rs761035556
|
0.00004
|
|
NM_000747.3(CHRNB1):c.364A>C (p.Asn122His)
|
rs776217572
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
|
NM_000827.4(GRIA1):c.788C>T (p.Pro263Leu)
|
rs149860835
|
0.00004
|
|
NM_000975.5(RPL11):c.264+3G>A
|
rs199514846
|
0.00004
|
|
NM_001003800.2(BICD2):c.1715G>A (p.Arg572His)
|
rs777902159
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
|
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840
|
0.00004
|
|
NM_001018111.3(PODXL):c.642C>A (p.Ser214Arg)
|
rs202133369
|
0.00004
|
|
NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val)
|
rs201308208
|
0.00004
|
|
NM_001039348.3(EFEMP1):c.525C>T (p.Asp175=)
|
rs151171192
|
0.00004
|
|
NM_001042413.2(GLIS3):c.1079C>T (p.Pro360Leu)
|
rs370077577
|
0.00004
|
|
NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)
|
rs374813758
|
0.00004
|
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00004
|
|
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln)
|
rs370705614
|
0.00004
|
|
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp)
|
rs150899645
|
0.00004
|
|
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)
|
rs202202445
|
0.00004
|
|
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe)
|
rs141833028
|
0.00004
|
|
NM_001077415.3(CRELD1):c.913G>A (p.Asp305Asn)
|
rs772094283
|
0.00004
|
|
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)
|
rs137853211
|
0.00004
|
|
NM_001084.5(PLOD3):c.1448C>T (p.Ser483Leu)
|
rs143759215
|
0.00004
|
|
NM_001084.5(PLOD3):c.976G>A (p.Asp326Asn)
|
rs369736445
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met)
|
rs758995387
|
0.00004
|
|
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln)
|
rs771412904
|
0.00004
|
|
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)
|
rs782555986
|
0.00004
|
|
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln)
|
rs886051168
|
0.00004
|
|
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu)
|
rs201959477
|
0.00004
|
|
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu)
|
rs201842856
|
0.00004
|
|
NM_001130823.3(DNMT1):c.3536C>T (p.Thr1179Met)
|
rs764541314
|
0.00004
|
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
|
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys)
|
rs372817333
|
0.00004
|
|
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)
|
rs202013788
|
0.00004
|
|
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)
|
rs757240900
|
0.00004
|
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
|
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp)
|
rs200921075
|
0.00004
|
|
NM_001130987.2(DYSF):c.766G>A (p.Val256Ile)
|
rs145360241
|
0.00004
|
|
NM_001130987.2(DYSF):c.906G>A (p.Leu302=)
|
rs916319528
|
0.00004
|
|
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys)
|
rs776921154
|
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_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln)
|
rs779186692
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.328C>G (p.Leu110Val)
|
rs1056798384
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.3976G>A (p.Ala1326Thr)
|
rs763023161
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.4600C>T (p.Arg1534Trp)
|
rs530231841
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His)
|
rs992473797
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His)
|
rs1004130638
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln)
|
rs377011269
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.77G>A (p.Arg26His)
|
rs780945315
|
0.00004
|
|
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
|
rs376704049
|
0.00004
|
|
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)
|
rs369093987
|
0.00004
|
|
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu)
|
rs768056213
|
0.00004
|
|
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp)
|
rs780800196
|
0.00004
|
|
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys)
|
rs760929162
|
0.00004
|
|
NM_001163809.2(WDR81):c.839C>T (p.Ala280Val)
|
rs562896991
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.785+3A>G
|
rs373543021
|
0.00004
|
|
NM_001164508.2(NEB):c.11423T>C (p.Phe3808Ser)
|
rs201416685
|
0.00004
|
|
NM_001164508.2(NEB):c.16621C>T (p.Arg5541Cys)
|
rs1287669175
|
0.00004
|
|
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly)
|
rs777969701
|
0.00004
|
|
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162
|
0.00004
|
|
NM_001164508.2(NEB):c.17062C>T (p.Arg5688Trp)
|
rs1274931478
|
0.00004
|
|
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154
|
0.00004
|
|
NM_001164508.2(NEB):c.19430G>A (p.Arg6477His)
|
rs762108795
|
0.00004
|
|
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055
|
0.00004
|
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
|
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)
|
rs781250495
|
0.00004
|
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
|
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)
|
rs747282707
|
0.00004
|
|
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His)
|
rs770527289
|
0.00004
|
|
NM_001164508.2(NEB):c.2302C>A (p.Leu768Ile)
|
rs368268273
|
0.00004
|
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
|
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu)
|
rs541908352
|
0.00004
|
|
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)
|
rs201291446
|
0.00004
|
|
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His)
|
rs778972474
|
0.00004
|
|
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)
|
rs796797375
|
0.00004
|
|
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)
|
rs368346105
|
0.00004
|
|
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402
|
0.00004
|
|
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His)
|
rs377054979
|
0.00004
|
|
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=)
|
rs769446481
|
0.00004
|
|
NM_001164508.2(NEB):c.586G>A (p.Val196Ile)
|
rs201433028
|
0.00004
|
|
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)
|
rs764064217
|
0.00004
|
|
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe)
|
rs372248515
|
0.00004
|
|
NM_001164508.2(NEB):c.8265+3A>T
|
rs374475460
|
0.00004
|
|
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr)
|
rs990382620
|
0.00004
|
|
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn)
|
rs779416595
|
0.00004
|
|
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu)
|
rs780293943
|
0.00004
|
|
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
|
rs376726354
|
0.00004
|
|
NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=)
|
rs763685989
|
0.00004
|
|
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys)
|
rs114303883
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)
|
rs121918236
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.847-26T>C
|
rs762606694
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)
|
rs757704473
|
0.00004
|
|
NM_001194.4(HCN2):c.17G>T (p.Gly6Val)
|
rs1199254032
|
0.00004
|
|
NM_001199563.2(POPDC1):c.1033G>A (p.Val345Ile)
|
rs933501917
|
0.00004
|
|
NM_001205293.3(CACNA1E):c.2555G>A (p.Arg852His)
|
rs538192254
|
0.00004
|
|
NM_001205293.3(CACNA1E):c.6095C>T (p.Ser2032Leu)
|
rs1049589906
|
0.00004
|
|
NM_001206927.2(DNAH8):c.13082C>T (p.Pro4361Leu)
|
rs770419203
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met)
|
rs369298689
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr)
|
rs764462476
|
0.00004
|
|
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)
|
rs369910640
|
0.00004
|
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)
|
rs527346259
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)
|
rs368124753
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
|
rs759958472
|
0.00004
|
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
|
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln)
|
rs771243505
|
0.00004
|
|
NM_001267550.2(TTN):c.10127C>T (p.Ser3376Leu)
|
rs781368765
|
0.00004
|
|
NM_001267550.2(TTN):c.101707C>T (p.Arg33903Cys)
|
rs772574722
|
0.00004
|
|
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln)
|
rs763708375
|
0.00004
|
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
|
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)
|
rs751914956
|
0.00004
|
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
|
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp)
|
rs879243057
|
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.14141G>A (p.Gly4714Asp)
|
rs750125429
|
0.00004
|
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
|
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln)
|
rs553541436
|
0.00004
|
|
NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln)
|
rs367630668
|
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.22889G>C (p.Cys7630Ser)
|
rs781175517
|
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.23854G>A (p.Glu7952Lys)
|
rs752227139
|
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.28465C>T (p.Arg9489Trp)
|
rs200489972
|
0.00004
|
|
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu)
|
rs373848402
|
0.00004
|
|
NM_001267550.2(TTN):c.29182A>G (p.Asn9728Asp)
|
rs794729400
|
0.00004
|
|
NM_001267550.2(TTN):c.29309G>A (p.Arg9770Gln)
|
rs368309068
|
0.00004
|
|
NM_001267550.2(TTN):c.29798C>T (p.Ser9933Leu)
|
rs764352461
|
0.00004
|
|
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala)
|
rs778063825
|
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.32735C>T (p.Pro10912Leu)
|
rs781655223
|
0.00004
|
|
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu)
|
rs193051231
|
0.00004
|
|
NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser)
|
rs767741769
|
0.00004
|
|
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile)
|
rs369025108
|
0.00004
|
|
NM_001267550.2(TTN):c.34930+2T>C
|
rs749252830
|
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.39887C>G (p.Pro13296Arg)
|
rs760464072
|
0.00004
|
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
|
NM_001267550.2(TTN):c.40825C>A (p.Pro13609Thr)
|
rs1319588606
|
0.00004
|
|
NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met)
|
rs774214497
|
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.43045G>A (p.Gly14349Ser)
|
rs781452930
|
0.00004
|
|
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)
|
rs376144178
|
0.00004
|
|
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)
|
rs370904881
|
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.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
|
NM_001267550.2(TTN):c.50983G>A (p.Val16995Ile)
|
rs187763563
|
0.00004
|
|
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe)
|
rs397517641
|
0.00004
|
|
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His)
|
rs778885931
|
0.00004
|
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
|
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)
|
rs780672348
|
0.00004
|
|
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly)
|
rs397517615
|
0.00004
|
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
|
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly)
|
rs201001270
|
0.00004
|
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
|
NM_001267550.2(TTN):c.56534C>T (p.Thr18845Met)
|
rs371571153
|
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.57671G>A (p.Arg19224His)
|
rs779279322
|
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.60340A>G (p.Thr20114Ala)
|
rs374632284
|
0.00004
|
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
|
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala)
|
rs550655820
|
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.62780G>A (p.Arg20927His)
|
rs397517652
|
0.00004
|
|
NM_001267550.2(TTN):c.63134G>C (p.Gly21045Ala)
|
rs878968094
|
0.00004
|
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
|
NM_001267550.2(TTN):c.63704A>G (p.Asn21235Ser)
|
rs751607765
|
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.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
|
NM_001267550.2(TTN):c.66015A>T (p.Gln22005His)
|
rs747951231
|
0.00004
|
|
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)
|
rs768057735
|
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.6923C>A (p.Ser2308Tyr)
|
rs577966527
|
0.00004
|
|
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His)
|
rs370257707
|
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.70855A>G (p.Ser23619Gly)
|
rs372823646
|
0.00004
|
|
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His)
|
rs537705563
|
0.00004
|
|
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His)
|
rs761823581
|
0.00004
|
|
NM_001267550.2(TTN):c.75487A>G (p.Thr25163Ala)
|
rs879020274
|
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.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00004
|
|
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln)
|
rs768308408
|
0.00004
|
|
NM_001267550.2(TTN):c.81317G>A (p.Gly27106Asp)
|
rs577183624
|
0.00004
|
|
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)
|
rs371910831
|
0.00004
|
|
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)
|
rs545954394
|
0.00004
|
|
NM_001267550.2(TTN):c.83925G>A (p.Lys27975=)
|
rs1031543708
|
0.00004
|
|
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)
|
rs375549179
|
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.89230G>A (p.Ala29744Thr)
|
rs201592005
|
0.00004
|
|
NM_001267550.2(TTN):c.908C>T (p.Pro303Leu)
|
rs760653342
|
0.00004
|
|
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln)
|
rs770081431
|
0.00004
|
|
NM_001267550.2(TTN):c.9154T>C (p.Tyr3052His)
|
rs763833161
|
0.00004
|
|
NM_001267550.2(TTN):c.92137G>C (p.Ala30713Pro)
|
rs367807708
|
0.00004
|
|
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)
|
rs202090888
|
0.00004
|
|
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr)
|
rs368427408
|
0.00004
|
|
NM_001267550.2(TTN):c.92924C>A (p.Thr30975Lys)
|
rs761971680
|
0.00004
|
|
NM_001267550.2(TTN):c.93581A>G (p.Tyr31194Cys)
|
rs543223589
|
0.00004
|
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
|
NM_001267550.2(TTN):c.94604G>T (p.Gly31535Val)
|
rs200302364
|
0.00004
|
|
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)
|
rs758006837
|
0.00004
|
|
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)
|
rs267599025
|
0.00004
|
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
|
NM_001267550.2(TTN):c.97036A>C (p.Lys32346Gln)
|
rs372803018
|
0.00004
|
|
NM_001267550.2(TTN):c.97441G>A (p.Gly32481Arg)
|
rs111616037
|
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.98750C>T (p.Ser32917Phe)
|
rs561932256
|
0.00004
|
|
NM_001267550.2(TTN):c.99295G>C (p.Glu33099Gln)
|
rs754827854
|
0.00004
|
|
NM_001267550.2(TTN):c.99893T>C (p.Ile33298Thr)
|
rs768876552
|
0.00004
|
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11266C>T (p.Arg3756Cys)
|
rs766141716
|
0.00004
|
|
NM_001278064.2(GRM1):c.2818T>A (p.Ser940Thr)
|
rs559782958
|
0.00004
|
|
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)
|
rs201560152
|
0.00004
|
|
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser)
|
rs17854478
|
0.00004
|
|
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser)
|
rs200604893
|
0.00004
|
|
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser)
|
rs368240967
|
0.00004
|
|
NM_001330360.2(POLA1):c.2756G>T (p.Arg919Ile)
|
rs770629363
|
0.00004
|
|
NM_001330360.2(POLA1):c.3728C>T (p.Thr1243Met)
|
rs759425597
|
0.00004
|
|
NM_001348323.3(TRIP12):c.1177C>T (p.Arg393Cys)
|
rs899545454
|
0.00004
|
|
NM_001349253.2(SCN11A):c.881C>T (p.Pro294Leu)
|
rs759807932
|
0.00004
|
|
NM_001352754.2(ARMC9):c.1340C>T (p.Pro447Leu)
|
rs778877264
|
0.00004
|
|
NM_001353345.2(SETD1B):c.2402C>T (p.Ala801Val)
|
rs1037138738
|
0.00004
|
|
NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)
|
rs368485065
|
0.00004
|
|
NM_001354930.2(RIPK1):c.1634A>C (p.Asn545Thr)
|
rs756008869
|
0.00004
|
|
NM_001355436.2(SPTB):c.1522C>T (p.Arg508Cys)
|
rs750365417
|
0.00004
|
|
NM_001355436.2(SPTB):c.5237G>A (p.Arg1746Gln)
|
rs764312726
|
0.00004
|
|
NM_001355436.2(SPTB):c.5763C>G (p.Ser1921Arg)
|
rs201844140
|
0.00004
|
|
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
|
rs367841692
|
0.00004
|
|
NM_001365276.2(TNXB):c.11458C>T (p.Arg3820Cys)
|
rs138558351
|
0.00004
|
|
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)
|
rs757850683
|
0.00004
|
|
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)
|
rs369792621
|
0.00004
|
|
NM_001368882.1(COL13A1):c.740G>A (p.Arg247Gln)
|
rs375424101
|
0.00004
|
|
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
|
rs761289479
|
0.00004
|
|
NM_001369268.1(ACAN):c.6833C>T (p.Ala2278Val)
|
rs749098394
|
0.00004
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
0.00004
|
|
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)
|
rs570167996
|
0.00004
|
|
NM_001371533.1(FUT8):c.222T>G (p.Ile74Met)
|
rs368415291
|
0.00004
|
|
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)
|
rs1001497433
|
0.00004
|
|
NM_001371986.1(UNC80):c.9867T>A (p.His3289Gln)
|
rs201312129
|
0.00004
|
|
NM_001372.4(DNAH9):c.7409G>A (p.Arg2470Gln)
|
rs140586111
|
0.00004
|
|
NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
|
rs758178489
|
0.00004
|
|
NM_001374353.1(GLI2):c.2006C>T (p.Thr669Met)
|
rs758298657
|
0.00004
|
|
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys)
|
rs752163489
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser)
|
rs141461351
|
0.00004
|
|
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser)
|
rs782510081
|
0.00004
|
|
NM_001375808.2(LPIN2):c.2450A>G (p.Tyr817Cys)
|
rs759880645
|
0.00004
|
|
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
|
rs769650632
|
0.00004
|
|
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn)
|
rs398124344
|
0.00004
|
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
|
NM_001378418.1(TCF20):c.2738G>A (p.Gly913Asp)
|
rs141527051
|
0.00004
|
|
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met)
|
rs771878661
|
0.00004
|
|
NM_001379286.1(ZNF423):c.2738G>A (p.Arg913Gln)
|
rs777432098
|
0.00004
|
|
NM_001386298.1(CIC):c.3992G>A (p.Arg1331Gln)
|
rs779676461
|
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.1243G>A (p.Val415Met)
|
rs369182765
|
0.00004
|
|
NM_001458.5(FLNC):c.1535C>T (p.Thr512Met)
|
rs775538827
|
0.00004
|
|
NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr)
|
rs538863259
|
0.00004
|
|
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser)
|
rs762248114
|
0.00004
|
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
rs555764780
|
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.4660A>C (p.Ile1554Leu)
|
rs754224673
|
0.00004
|
|
NM_001458.5(FLNC):c.4744G>A (p.Glu1582Lys)
|
rs753022721
|
0.00004
|
|
NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp)
|
rs576453637
|
0.00004
|
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
0.00004
|
|
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)
|
rs746349463
|
0.00004
|
|
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
0.00004
|
|
NM_001492.6(GDF1):c.985C>T (p.Pro329Ser)
|
rs760908706
|
0.00004
|
|
NM_001739.2(CA5A):c.544G>A (p.Val182Met)
|
rs149854962
|
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.3083C>T (p.Pro1028Leu)
|
rs756879840
|
0.00004
|
|
NM_001845.6(COL4A1):c.4640+3G>T
|
rs770167198
|
0.00004
|
|
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)
|
rs376807461
|
0.00004
|
|
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)
|
rs760815168
|
0.00004
|
|
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
|
rs201227573
|
0.00004
|
|
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)
|
rs759442615
|
0.00004
|
|
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg)
|
rs763495943
|
0.00004
|
|
NM_001848.3(COL6A1):c.329G>A (p.Arg110His)
|
rs773139115
|
0.00004
|
|
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)
|
rs145473829
|
0.00004
|
|
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)
|
rs202039679
|
0.00004
|
|
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)
|
rs727502829
|
0.00004
|
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
|
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His)
|
rs145140058
|
0.00004
|
|
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg)
|
rs199913294
|
0.00004
|
|
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
|
rs139552940
|
0.00004
|
|
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)
|
rs772005975
|
0.00004
|
|
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp)
|
rs759689002
|
0.00004
|
|
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
|
rs372523558
|
0.00004
|
|
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys)
|
rs373392391
|
0.00004
|
|
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile)
|
rs376564984
|
0.00004
|
|
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
|
rs369025432
|
0.00004
|
|
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp)
|
rs201470058
|
0.00004
|
|
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)
|
rs754048358
|
0.00004
|
|
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)
|
rs530625182
|
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_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
|
NM_002025.4(AFF2):c.412C>G (p.Pro138Ala)
|
rs782277853
|
0.00004
|
|
NM_002049.4(GATA1):c.1058T>C (p.Leu353Pro)
|
rs1387776883
|
0.00004
|
|
NM_002101.5(GYPC):c.150G>C (p.Glu50Asp)
|
rs375846126
|
0.00004
|
|
NM_002101.5(GYPC):c.244C>T (p.Arg82Cys)
|
rs769463770
|
0.00004
|
|
NM_002108.4(HAL):c.578C>G (p.Ser193Ter)
|
rs145312493
|
0.00004
|
|
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
rs754559345
|
0.00004
|
|
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
|
rs751046981
|
0.00004
|
|
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu)
|
rs372629862
|
0.00004
|
|
NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys)
|
rs201280060
|
0.00004
|
|
NM_002206.3(ITGA7):c.1918G>A (p.Asp640Asn)
|
rs751879922
|
0.00004
|
|
NM_002206.3(ITGA7):c.227A>G (p.Gln76Arg)
|
rs767427150
|
0.00004
|
|
NM_002206.3(ITGA7):c.2467G>A (p.Val823Met)
|
rs146163713
|
0.00004
|
|
NM_002206.3(ITGA7):c.2794A>G (p.Met932Val)
|
rs779191862
|
0.00004
|
|
NM_002206.3(ITGA7):c.2963A>G (p.Tyr988Cys)
|
rs1191095890
|
0.00004
|
|
NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)
|
rs372579814
|
0.00004
|
|
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)
|
rs1023046604
|
0.00004
|
|
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)
|
rs752949336
|
0.00004
|
|
NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg)
|
rs143093758
|
0.00004
|
|
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)
|
rs769378984
|
0.00004
|
|
NM_002317.7(LOX):c.1190G>A (p.Arg397His)
|
rs749796906
|
0.00004
|
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
|
NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup)
|
rs773508976
|
0.00004
|
|
NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)
|
rs139612280
|
0.00004
|
|
NM_002838.5(PTPRC):c.700A>G (p.Asn234Asp)
|
rs535416574
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
|
NM_002878.4(RAD51D):c.839C>G (p.Thr280Ser)
|
rs548111162
|
0.00004
|
|
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met)
|
rs143013773
|
0.00004
|
|
NM_003126.4(SPTA1):c.1243C>T (p.His415Tyr)
|
rs769493017
|
0.00004
|
|
NM_003126.4(SPTA1):c.1670G>A (p.Arg557His)
|
rs754982398
|
0.00004
|
|
NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln)
|
rs762400241
|
0.00004
|
|
NM_003126.4(SPTA1):c.2588-3T>C
|
rs375142282
|
0.00004
|
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
|
NM_003126.4(SPTA1):c.3842G>A (p.Arg1281His)
|
rs374733516
|
0.00004
|
|
NM_003126.4(SPTA1):c.7135-3C>T
|
rs374324802
|
0.00004
|
|
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly)
|
rs374054249
|
0.00004
|
|
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys)
|
rs555719562
|
0.00004
|
|
NM_003289.4(TPM2):c.372G>C (p.Glu124Asp)
|
rs753245295
|
0.00004
|
|
NM_003383.5(VLDLR):c.449-112G>A
|
rs374141646
|
0.00004
|
|
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)
|
rs372085797
|
0.00004
|
|
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His)
|
rs763734863
|
0.00004
|
|
NM_003579.4(RAD54L):c.883T>C (p.Cys295Arg)
|
rs373737756
|
0.00004
|
|
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
|
rs369681077
|
0.00004
|
|
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)
|
rs755539784
|
0.00004
|
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
|
NM_003901.4(SGPL1):c.1019G>A (p.Arg340Gln)
|
rs531077460
|
0.00004
|
|
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)
|
rs199787155
|
0.00004
|
|
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln)
|
rs200035109
|
0.00004
|
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
|
NM_004006.3(DMD):c.10592A>G (p.His3531Arg)
|
rs886043324
|
0.00004
|
|
NM_004006.3(DMD):c.1534C>T (p.His512Tyr)
|
rs147136371
|
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_004082.5(DCTN1):c.2339T>C (p.Ile780Thr)
|
rs374163967
|
0.00004
|
|
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys)
|
rs759373031
|
0.00004
|
|
NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys)
|
rs763846344
|
0.00004
|
|
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)
|
rs752341132
|
0.00004
|
|
NM_004281.4(BAG3):c.34G>A (p.Val12Met)
|
rs367917821
|
0.00004
|
|
NM_004281.4(BAG3):c.743A>G (p.His248Arg)
|
rs369947845
|
0.00004
|
|
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn)
|
rs754387872
|
0.00004
|
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
|
NM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln)
|
rs868448815
|
0.00004
|
|
NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)
|
rs367801838
|
0.00004
|
|
NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln)
|
rs763141204
|
0.00004
|
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
|
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys)
|
rs137923508
|
0.00004
|
|
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)
|
rs369814614
|
0.00004
|
|
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=)
|
rs749992393
|
0.00004
|
|
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)
|
rs115874872
|
0.00004
|
|
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)
|
rs775536678
|
0.00004
|
|
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
|
rs754410028
|
0.00004
|
|
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)
|
rs200860322
|
0.00004
|
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
|
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg)
|
rs150321587
|
0.00004
|
|
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)
|
rs1156524068
|
0.00004
|
|
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)
|
rs781624176
|
0.00004
|
|
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)
|
rs370806359
|
0.00004
|
|
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)
|
rs200478135
|
0.00004
|
|
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
|
rs145561490
|
0.00004
|
|
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)
|
rs769072338
|
0.00004
|
|
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)
|
rs140021275
|
0.00004
|
|
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)
|
rs373680762
|
0.00004
|
|
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)
|
rs746608405
|
0.00004
|
|
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)
|
rs537511128
|
0.00004
|
|
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His)
|
rs755195861
|
0.00004
|
|
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)
|
rs774882851
|
0.00004
|
|
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
|
rs746059124
|
0.00004
|
|
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)
|
rs1180402350
|
0.00004
|
|
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr)
|
rs746982506
|
0.00004
|
|
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile)
|
rs374525546
|
0.00004
|
|
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile)
|
rs772992461
|
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_004370.6(COL12A1):c.5336G>A (p.Arg1779His)
|
rs748487098
|
0.00004
|
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
|
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)
|
rs775862147
|
0.00004
|
|
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
|
rs771186535
|
0.00004
|
|
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)
|
rs752850582
|
0.00004
|
|
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)
|
rs368686970
|
0.00004
|
|
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)
|
rs183898615
|
0.00004
|
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
|
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)
|
rs751638930
|
0.00004
|
|
NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)
|
rs751146607
|
0.00004
|
|
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
|
rs375086983
|
0.00004
|
|
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu)
|
rs200233956
|
0.00004
|
|
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln)
|
rs756890406
|
0.00004
|
|
NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp)
|
rs151272832
|
0.00004
|
|
NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg)
|
rs757032530
|
0.00004
|
|
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr)
|
rs201869343
|
0.00004
|
|
NM_004393.6(DAG1):c.835G>T (p.Ala279Ser)
|
rs202239406
|
0.00004
|
|
NM_004525.3(LRP2):c.1501C>T (p.Arg501Trp)
|
rs760488801
|
0.00004
|
|
NM_004667.6(HERC2):c.3757G>A (p.Ala1253Thr)
|
rs753357781
|
0.00004
|
|
NM_004667.6(HERC2):c.517T>G (p.Ser173Ala)
|
rs113149522
|
0.00004
|
|
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
|
rs201529748
|
0.00004
|
|
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser)
|
rs774416603
|
0.00004
|
|
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)
|
rs765305996
|
0.00004
|
|
NM_004933.3(CDH15):c.2272G>A (p.Asp758Asn)
|
rs762117025
|
0.00004
|
|
NM_004946.3(DOCK2):c.44-9G>A
|
rs778542070
|
0.00004
|
|
NM_004959.5(NR5A1):c.493G>C (p.Gly165Arg)
|
rs535621711
|
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_005026.5(PIK3CD):c.899G>A (p.Arg300His)
|
rs780386111
|
0.00004
|
|
NM_005045.4(RELN):c.6875G>A (p.Arg2292His)
|
rs565382144
|
0.00004
|
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
|
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)
|
rs145507075
|
0.00004
|
|
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)
|
rs138863694
|
0.00004
|
|
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
|
rs376607111
|
0.00004
|
|
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)
|
rs766485358
|
0.00004
|
|
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)
|
rs1569482448
|
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_005360.5(MAF):c.442G>T (p.Ala148Ser)
|
rs758854502
|
0.00004
|
|
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)
|
rs369714039
|
0.00004
|
|
NM_005476.7(GNE):c.305T>C (p.Leu102Pro)
|
rs760704097
|
0.00004
|
|
NM_005477.3(HCN4):c.3414del (p.Arg1140fs)
|
rs746402732
|
0.00004
|
|
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu)
|
rs772764704
|
0.00004
|
|
NM_005529.7(HSPG2):c.10220A>G (p.Gln3407Arg)
|
rs529950403
|
0.00004
|
|
NM_005529.7(HSPG2):c.11704C>T (p.Arg3902Trp)
|
rs369444776
|
0.00004
|
|
NM_005529.7(HSPG2):c.11746C>T (p.Arg3916Cys)
|
rs139182361
|
0.00004
|
|
NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser)
|
rs771945509
|
0.00004
|
|
NM_005529.7(HSPG2):c.1450G>A (p.Ala484Thr)
|
rs1266949028
|
0.00004
|
|
NM_005529.7(HSPG2):c.2027C>T (p.Pro676Leu)
|
rs552160652
|
0.00004
|
|
NM_005529.7(HSPG2):c.2468G>A (p.Arg823His)
|
rs137871979
|
0.00004
|
|
NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met)
|
rs748529459
|
0.00004
|
|
NM_005529.7(HSPG2):c.3556C>T (p.Arg1186Trp)
|
rs113743582
|
0.00004
|
|
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln)
|
rs375214661
|
0.00004
|
|
NM_005529.7(HSPG2):c.380C>T (p.Pro127Leu)
|
rs138549668
|
0.00004
|
|
NM_005529.7(HSPG2):c.4409G>A (p.Arg1470Gln)
|
rs41310382
|
0.00004
|
|
NM_005529.7(HSPG2):c.5350C>T (p.Arg1784Cys)
|
rs150937055
|
0.00004
|
|
NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His)
|
rs144032875
|
0.00004
|
|
NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His)
|
rs545161793
|
0.00004
|
|
NM_005529.7(HSPG2):c.7280C>T (p.Ala2427Val)
|
rs371203983
|
0.00004
|
|
NM_005529.7(HSPG2):c.7313C>T (p.Thr2438Met)
|
rs148141547
|
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_005529.7(HSPG2):c.9269G>A (p.Arg3090His)
|
rs371570424
|
0.00004
|
|
NM_005529.7(HSPG2):c.937G>A (p.Gly313Ser)
|
rs536020535
|
0.00004
|
|
NM_005591.4(MRE11):c.1883G>A (p.Arg628Lys)
|
rs587781835
|
0.00004
|
|
NM_005592.4(MUSK):c.1522G>A (p.Val508Met)
|
rs769267043
|
0.00004
|
|
NM_005592.4(MUSK):c.397A>G (p.Ile133Val)
|
rs570136508
|
0.00004
|
|
NM_005609.4(PYGM):c.1218G>T (p.Glu406Asp)
|
rs757762621
|
0.00004
|
|
NM_005609.4(PYGM):c.131G>A (p.Arg44His)
|
rs567482511
|
0.00004
|
|
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
|
rs758175735
|
0.00004
|
|
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys)
|
rs141055359
|
0.00004
|
|
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser)
|
rs143071876
|
0.00004
|
|
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys)
|
rs375934353
|
0.00004
|
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
|
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu)
|
rs372064982
|
0.00004
|
|
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys)
|
rs141721093
|
0.00004
|
|
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln)
|
rs775959815
|
0.00004
|
|
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu)
|
rs200479277
|
0.00004
|
|
NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg)
|
rs765321518
|
0.00004
|
|
NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln)
|
rs35861031
|
0.00004
|
|
NM_005862.3(STAG1):c.284A>G (p.Lys95Arg)
|
rs147882530
|
0.00004
|
|
NM_005876.5(SPEG):c.9078C>T (p.His3026=)
|
rs541299207
|
0.00004
|
|
NM_005994.4(TBX2):c.988G>T (p.Ala330Ser)
|
rs113676723
|
0.00004
|
|
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val)
|
rs759136937
|
0.00004
|
|
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)
|
rs753308387
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.223C>T (p.Arg75Trp)
|
rs372777713
|
0.00004
|
|
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg)
|
rs200042995
|
0.00004
|
|
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys)
|
rs770659674
|
0.00004
|
|
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp)
|
rs116326665
|
0.00004
|
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys)
|
rs150046458
|
0.00004
|
|
NM_006662.3(SRCAP):c.5561G>A (p.Arg1854His)
|
rs746926335
|
0.00004
|
|
NM_006662.3(SRCAP):c.9124C>T (p.Arg3042Trp)
|
rs777211919
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr)
|
rs771224281
|
0.00004
|
|
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)
|
rs373489115
|
0.00004
|
|
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu)
|
rs756669574
|
0.00004
|
|
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)
|
rs193920888
|
0.00004
|
|
NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)
|
rs772687780
|
0.00004
|
|
NM_006922.4(SCN3A):c.2759C>T (p.Thr920Met)
|
rs371456512
|
0.00004
|
|
NM_006922.4(SCN3A):c.5713G>A (p.Ala1905Thr)
|
rs367631757
|
0.00004
|
|
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu)
|
rs776260027
|
0.00004
|
|
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys)
|
rs145191943
|
0.00004
|
|
NM_006946.4(SPTBN2):c.6745G>A (p.Val2249Ile)
|
rs774816936
|
0.00004
|
|
NM_007055.4(POLR3A):c.3499G>C (p.Val1167Leu)
|
rs372587661
|
0.00004
|
|
NM_007118.4(TRIO):c.5225A>G (p.Asn1742Ser)
|
rs762460319
|
0.00004
|
|
NM_007289.4(MME):c.860C>T (p.Thr287Met)
|
rs202094946
|
0.00004
|
|
NM_007315.4(STAT1):c.1582+54C>A
|
rs553598896
|
0.00004
|
|
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)
|
rs764366522
|
0.00004
|
|
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe)
|
rs747067557
|
0.00004
|
|
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln)
|
rs781359060
|
0.00004
|
|
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)
|
rs752016708
|
0.00004
|
|
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val)
|
rs139113969
|
0.00004
|
|
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)
|
rs377510422
|
0.00004
|
|
NM_012282.4(KCNE5):c.358C>T (p.Gln120Ter)
|
rs372565167
|
0.00004
|
|
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp)
|
rs149817329
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
|
NM_013275.6(ANKRD11):c.4534C>T (p.Arg1512Cys)
|
rs372367879
|
0.00004
|
|
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
|
rs756925771
|
0.00004
|
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
|
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe)
|
rs771509741
|
0.00004
|
|
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys)
|
rs375840897
|
0.00004
|
|
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser)
|
rs771812476
|
0.00004
|
|
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys)
|
rs148466370
|
0.00004
|
|
NM_013382.7(POMT2):c.1763G>A (p.Arg588Gln)
|
rs551230843
|
0.00004
|
|
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln)
|
rs779390236
|
0.00004
|
|
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg)
|
rs767316912
|
0.00004
|
|
NM_013382.7(POMT2):c.631G>A (p.Val211Ile)
|
rs373139592
|
0.00004
|
|
NM_014008.5(CCDC22):c.1212+4G>T
|
rs782736581
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.857G>A (p.Arg286Gln)
|
rs375721700
|
0.00004
|
|
NM_014159.7(SETD2):c.2849G>A (p.Arg950His)
|
rs149265978
|
0.00004
|
|
NM_014159.7(SETD2):c.5057G>A (p.Arg1686Gln)
|
rs367601805
|
0.00004
|
|
NM_014208.3(DSPP):c.3661G>A (p.Asp1221Asn)
|
rs747882961
|
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_014516.4(CNOT3):c.1752G>A (p.Pro584=)
|
rs1406807767
|
0.00004
|
|
NM_014712.3(SETD1A):c.620C>T (p.Ser207Leu)
|
rs146444823
|
0.00004
|
|
NM_014780.5(CUL7):c.1569+76G>C
|
rs1007999605
|
0.00004
|
|
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)
|
rs776372232
|
0.00004
|
|
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)
|
rs775542349
|
0.00004
|
|
NM_015015.3(KDM4B):c.1774G>A (p.Gly592Arg)
|
rs371767203
|
0.00004
|
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
|
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)
|
rs773364996
|
0.00004
|
|
NM_015102.5(NPHP4):c.1064C>T (p.Ala355Val)
|
rs200118635
|
0.00004
|
|
NM_015122.3(FCHO1):c.596G>A (p.Arg199His)
|
rs767365658
|
0.00004
|
|
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val)
|
rs201764744
|
0.00004
|
|
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val)
|
rs147636995
|
0.00004
|
|
NM_015267.4(CUX2):c.561-4G>A
|
rs749115634
|
0.00004
|
|
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)
|
rs776944618
|
0.00004
|
|
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)
|
rs200521548
|
0.00004
|
|
NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met)
|
rs771100083
|
0.00004
|
|
NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile)
|
rs778206654
|
0.00004
|
|
NM_015295.3(SMCHD1):c.5545G>A (p.Glu1849Lys)
|
rs776455179
|
0.00004
|
|
NM_015295.3(SMCHD1):c.5879-3C>T
|
rs565200929
|
0.00004
|
|
NM_015295.3(SMCHD1):c.6005A>C (p.Lys2002Thr)
|
rs959328
|
0.00004
|
|
NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp)
|
rs200837976
|
0.00004
|
|
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)
|
rs533033409
|
0.00004
|
|
NM_015512.5(DNAH1):c.11715C>T (p.Asp3905=)
|
rs369173280
|
0.00004
|
|
NM_015599.3(PGM3):c.1554C>A (p.His518Gln)
|
rs375523747
|
0.00004
|
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00004
|
|
NM_015721.3(GEMIN4):c.272G>A (p.Arg91Gln)
|
rs199833752
|
0.00004
|
|
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile)
|
rs201452351
|
0.00004
|
|
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)
|
rs3748694
|
0.00004
|
|
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu)
|
rs201008667
|
0.00004
|
|
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)
|
rs200428820
|
0.00004
|
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
|
NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)
|
rs967971137
|
0.00004
|
|
NM_017415.3(KLHL3):c.977G>A (p.Arg326Gln)
|
rs527603640
|
0.00004
|
|
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val)
|
rs527337606
|
0.00004
|
|
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr)
|
rs550869991
|
0.00004
|
|
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn)
|
rs200893594
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn)
|
rs770729642
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser)
|
rs372610527
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr)
|
rs374401585
|
0.00004
|
|
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys)
|
rs201361648
|
0.00004
|
|
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys)
|
rs144959783
|
0.00004
|
|
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)
|
rs368609862
|
0.00004
|
|
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu)
|
rs369543203
|
0.00004
|
|
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
|
rs761410781
|
0.00004
|
|
NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)
|
rs567684136
|
0.00004
|
|
NM_017947.4(MOCOS):c.929C>T (p.Ser310Leu)
|
rs77940522
|
0.00004
|
|
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala)
|
rs757761857
|
0.00004
|
|
NM_018136.5(ASPM):c.6351C>T (p.His2117=)
|
rs769102245
|
0.00004
|
|
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His)
|
rs145333987
|
0.00004
|
|
NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)
|
rs545235391
|
0.00004
|
|
NM_018685.5(ANLN):c.1547A>T (p.Lys516Ile)
|
rs375733596
|
0.00004
|
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
|
NM_018896.5(CACNA1G):c.1648G>A (p.Ala550Thr)
|
rs748354117
|
0.00004
|
|
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
|
rs751478832
|
0.00004
|
|
NM_019077.3(UGT1A7):c.802A>C (p.Asn268His)
|
rs762762821
|
0.00004
|
|
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
|
rs763184652
|
0.00004
|
|
NM_019892.6(INPP5E):c.593G>C (p.Ser198Thr)
|
rs141286608
|
0.00004
|
|
NM_020191.4(MRPS22):c.523A>G (p.Arg175Gly)
|
rs141721636
|
0.00004
|
|
NM_020376.4(PNPLA2):c.815C>G (p.Pro272Arg)
|
rs200993304
|
0.00004
|
|
NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn)
|
rs754243118
|
0.00004
|
|
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr)
|
rs750002983
|
0.00004
|
|
NM_020549.5(CHAT):c.1771G>A (p.Val591Met)
|
rs201485243
|
0.00004
|
|
NM_020738.4(KIDINS220):c.644A>G (p.Tyr215Cys)
|
rs753935388
|
0.00004
|
|
NM_020806.5(GPHN):c.715G>A (p.Ala239Thr)
|
rs751089463
|
0.00004
|
|
NM_020812.4(DOCK6):c.292G>A (p.Gly98Arg)
|
rs555194695
|
0.00004
|
|
NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met)
|
rs547200034
|
0.00004
|
|
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
|
rs775923151
|
0.00004
|
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
|
NM_020987.5(ANK3):c.5768T>G (p.Val1923Gly)
|
rs201428263
|
0.00004
|
|
NM_021076.4(NEFH):c.2396C>T (p.Ala799Val)
|
rs375529650
|
0.00004
|
|
NM_021083.4(XK):c.1220C>T (p.Pro407Leu)
|
rs782770909
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu)
|
rs779673117
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn)
|
rs752315503
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met)
|
rs759325090
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln)
|
rs567387885
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.660+3G>A
|
rs377549138
|
0.00004
|
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00004
|
|
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe)
|
rs774782975
|
0.00004
|
|
NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)
|
rs200963371
|
0.00004
|
|
NM_022173.4(TIA1):c.277+3_277+5dup
|
rs1266600719
|
0.00004
|
|
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)
|
rs200839584
|
0.00004
|
|
NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)
|
rs757537317
|
0.00004
|
|
NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys)
|
rs373819340
|
0.00004
|
|
NM_022436.3(ABCG5):c.854A>G (p.Asn285Ser)
|
rs975612815
|
0.00004
|
|
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val)
|
rs148185316
|
0.00004
|
|
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)
|
rs563414935
|
0.00004
|
|
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
|
rs543083009
|
0.00004
|
|
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
|
rs763221847
|
0.00004
|
|
NM_022817.3(PER2):c.1202G>A (p.Arg401His)
|
rs774249054
|
0.00004
|
|
NM_024009.3(GJB3):c.196G>A (p.Asp66Asn)
|
rs201937833
|
0.00004
|
|
NM_024009.3(GJB3):c.499G>A (p.Val167Met)
|
rs376748531
|
0.00004
|
|
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile)
|
rs572478240
|
0.00004
|
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00004
|
|
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)
|
rs144402299
|
0.00004
|
|
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr)
|
rs139162588
|
0.00004
|
|
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)
|
rs776342428
|
0.00004
|
|
NM_025233.7(COASY):c.1015C>T (p.Arg339Ter)
|
rs139742477
|
0.00004
|
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00004
|
|
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr)
|
rs780371904
|
0.00004
|
|
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu)
|
rs202187834
|
0.00004
|
|
NM_031229.4(RBCK1):c.941G>A (p.Arg314His)
|
rs759203606
|
0.00004
|
|
NM_031475.3(ESPN):c.493G>A (p.Val165Met)
|
rs867037570
|
0.00004
|
|
NM_032237.5(POMK):c.37G>A (p.Ala13Thr)
|
rs1375419528
|
0.00004
|
|
NM_032242.4(PLXNA1):c.1115G>A (p.Arg372His)
|
rs1336240753
|
0.00004
|
|
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)
|
rs372991604
|
0.00004
|
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
|
NM_032608.7(MYO18B):c.2982A>G (p.Glu994=)
|
rs199523038
|
0.00004
|
|
NM_032608.7(MYO18B):c.4146G>C (p.Trp1382Cys)
|
rs753489293
|
0.00004
|
|
NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr)
|
rs769150604
|
0.00004
|
|
NM_032790.4(ORAI1):c.1A>T (p.Met1Leu)
|
rs797044624
|
0.00004
|
|
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
|
rs554834821
|
0.00004
|
|
NM_033343.4(LHX4):c.37_39del (p.Val13del)
|
rs753067543
|
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_052988.5(CDK10):c.638C>T (p.Thr213Ile)
|
rs372466549
|
0.00004
|
|
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln)
|
rs767877538
|
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_130468.4(CHST14):c.933G>C (p.Glu311Asp)
|
rs927457735
|
0.00004
|
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
|
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys)
|
rs373853930
|
0.00004
|
|
NM_138326.3(ACMSD):c.948+1G>A
|
rs369586948
|
0.00004
|
|
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
|
rs747953460
|
0.00004
|
|
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser)
|
rs776881666
|
0.00004
|
|
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
|
rs549556243
|
0.00004
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
0.00004
|
|
NM_138927.4(SON):c.5138A>G (p.Lys1713Arg)
|
rs752358032
|
0.00004
|
|
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala)
|
rs138232575
|
0.00004
|
|
NM_144670.6(A2ML1):c.650C>T (p.Pro217Leu)
|
rs773797927
|
0.00004
|
|
NM_145117.5(NAV2):c.1454A>G (p.Asn485Ser)
|
rs548877132
|
0.00004
|
|
NM_145117.5(NAV2):c.2291C>T (p.Thr764Met)
|
rs180786689
|
0.00004
|
|
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)
|
rs953296331
|
0.00004
|
|
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)
|
rs144123418
|
0.00004
|
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
|
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His)
|
rs763703607
|
0.00004
|
|
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly)
|
rs373678127
|
0.00004
|
|
NM_152743.4(BRAT1):c.2089C>T (p.His697Tyr)
|
rs561549620
|
0.00004
|
|
NM_152743.4(BRAT1):c.851C>T (p.Ala284Val)
|
rs750645922
|
0.00004
|
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
|
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile)
|
rs753988867
|
0.00004
|
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
|
NM_173630.4(RTTN):c.4772G>A (p.Arg1591Gln)
|
rs543724689
|
0.00004
|
|
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser)
|
rs760412846
|
0.00004
|
|
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)
|
rs753026831
|
0.00004
|
|
NM_173660.5(DOK7):c.541G>A (p.Val181Ile)
|
rs146076204
|
0.00004
|
|
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile)
|
rs560877883
|
0.00004
|
|
NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu)
|
rs72646517
|
0.00004
|
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
|
NM_177924.5(ASAH1):c.5C>T (p.Pro2Leu)
|
rs757302859
|
0.00004
|
|
NM_178229.5(IQGAP3):c.3436T>C (p.Tyr1146His)
|
rs1391470130
|
0.00004
|
|
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr)
|
rs759802358
|
0.00004
|
|
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln)
|
rs563332131
|
0.00004
|
|
NM_182914.3(SYNE2):c.14479C>T (p.Arg4827Cys)
|
rs146052780
|
0.00004
|
|
NM_182914.3(SYNE2):c.14986A>G (p.Lys4996Glu)
|
rs762071729
|
0.00004
|
|
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly)
|
rs754937863
|
0.00004
|
|
NM_182914.3(SYNE2):c.16313A>G (p.Asp5438Gly)
|
rs374348890
|
0.00004
|
|
NM_182914.3(SYNE2):c.17504A>G (p.Asp5835Gly)
|
rs147097998
|
0.00004
|
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00004
|
|
NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=)
|
rs772308280
|
0.00004
|
|
NM_182914.3(SYNE2):c.20045C>T (p.Ser6682Leu)
|
rs201256334
|
0.00004
|
|
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val)
|
rs556342048
|
0.00004
|
|
NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe)
|
rs766796829
|
0.00004
|
|
NM_182914.3(SYNE2):c.652G>A (p.Ala218Thr)
|
rs370175849
|
0.00004
|
|
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu)
|
rs773696166
|
0.00004
|
|
NM_182961.4(SYNE1):c.10524G>A (p.Leu3508=)
|
rs985960682
|
0.00004
|
|
NM_182961.4(SYNE1):c.12322G>A (p.Ala4108Thr)
|
rs372489656
|
0.00004
|
|
NM_182961.4(SYNE1):c.12351+542G>A
|
rs190948178
|
0.00004
|
|
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
|
rs376805595
|
0.00004
|
|
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
|
rs762542391
|
0.00004
|
|
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His)
|
rs148248006
|
0.00004
|
|
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys)
|
rs371375804
|
0.00004
|
|
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln)
|
rs776100963
|
0.00004
|
|
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His)
|
rs746220387
|
0.00004
|
|
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr)
|
rs143594709
|
0.00004
|
|
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys)
|
rs143554730
|
0.00004
|
|
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
|
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)
|
rs140903556
|
0.00004
|
|
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
|
rs201037542
|
0.00004
|
|
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=)
|
rs147173664
|
0.00004
|
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
|
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr)
|
rs190781696
|
0.00004
|
|
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val)
|
rs746456193
|
0.00004
|
|
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)
|
rs267600861
|
0.00004
|
|
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
|
rs201548223
|
0.00004
|
|
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe)
|
rs757463285
|
0.00004
|
|
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met)
|
rs759512753
|
0.00004
|
|
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)
|
rs747635401
|
0.00004
|
|
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys)
|
rs187117263
|
0.00004
|
|
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val)
|
rs767783076
|
0.00004
|
|
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
|
rs138691290
|
0.00004
|
|
NM_182961.4(SYNE1):c.7592T>C (p.Ile2531Thr)
|
rs138766629
|
0.00004
|
|
NM_182961.4(SYNE1):c.8687G>A (p.Arg2896His)
|
rs145390592
|
0.00004
|
|
NM_198407.2(GHSR):c.422G>C (p.Arg141Pro)
|
rs199698243
|
0.00004
|
|
NM_198576.4(AGRN):c.5497G>A (p.Val1833Ile)
|
rs377622440
|
0.00004
|
|
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp)
|
rs374512652
|
0.00004
|
|
NM_201384.3(PLEC):c.10445G>A (p.Arg3482His)
|
rs548876454
|
0.00004
|
|
NM_201384.3(PLEC):c.10778C>T (p.Ser3593Leu)
|
rs782707803
|
0.00004
|
|
NM_201384.3(PLEC):c.10849C>T (p.Arg3617Cys)
|
rs781877026
|
0.00004
|
|
NM_201384.3(PLEC):c.10930C>T (p.Arg3644Cys)
|
rs781932676
|
0.00004
|
|
NM_201384.3(PLEC):c.11275G>A (p.Asp3759Asn)
|
rs781916673
|
0.00004
|
|
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val)
|
rs368803763
|
0.00004
|
|
NM_201384.3(PLEC):c.11419G>A (p.Gly3807Ser)
|
rs1018093835
|
0.00004
|
|
NM_201384.3(PLEC):c.11509C>G (p.Leu3837Val)
|
rs782299926
|
0.00004
|
|
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser)
|
rs782123116
|
0.00004
|
|
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)
|
rs541209817
|
0.00004
|
|
NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile)
|
rs782422260
|
0.00004
|
|
NM_201384.3(PLEC):c.12690C>T (p.Thr4230=)
|
rs370135715
|
0.00004
|
|
NM_201384.3(PLEC):c.12730C>T (p.Arg4244Cys)
|
rs373846655
|
0.00004
|
|
NM_201384.3(PLEC):c.1363G>A (p.Asp455Asn)
|
rs576247373
|
0.00004
|
|
NM_201384.3(PLEC):c.2370C>T (p.Ala790=)
|
rs533090572
|
0.00004
|
|
NM_201384.3(PLEC):c.2417G>A (p.Arg806His)
|
rs782046742
|
0.00004
|
|
NM_201384.3(PLEC):c.2507C>T (p.Pro836Leu)
|
rs782500732
|
0.00004
|
|
NM_201384.3(PLEC):c.2542G>A (p.Glu848Lys)
|
rs781977174
|
0.00004
|
|
NM_201384.3(PLEC):c.2720G>A (p.Arg907His)
|
rs374310349
|
0.00004
|
|
NM_201384.3(PLEC):c.2768G>A (p.Arg923His)
|
rs371122460
|
0.00004
|
|
NM_201384.3(PLEC):c.2833G>A (p.Gly945Ser)
|
rs371683315
|
0.00004
|
|
NM_201384.3(PLEC):c.2977C>T (p.Arg993Trp)
|
rs373993300
|
0.00004
|
|
NM_201384.3(PLEC):c.3190C>T (p.Arg1064Cys)
|
rs371358671
|
0.00004
|
|
NM_201384.3(PLEC):c.4408G>A (p.Gly1470Arg)
|
rs782341251
|
0.00004
|
|
NM_201384.3(PLEC):c.4585C>T (p.Arg1529Cys)
|
rs781877289
|
0.00004
|
|
NM_201384.3(PLEC):c.4720G>A (p.Ala1574Thr)
|
rs914835478
|
0.00004
|
|
NM_201384.3(PLEC):c.5014G>A (p.Glu1672Lys)
|
rs782791575
|
0.00004
|
|
NM_201384.3(PLEC):c.5021G>A (p.Arg1674Gln)
|
rs782062918
|
0.00004
|
|
NM_201384.3(PLEC):c.5060G>A (p.Arg1687Gln)
|
rs563046387
|
0.00004
|
|
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)
|
rs782757364
|
0.00004
|
|
NM_201384.3(PLEC):c.5156G>A (p.Arg1719Gln)
|
rs782270594
|
0.00004
|
|
NM_201384.3(PLEC):c.536G>A (p.Arg179Gln)
|
rs566549191
|
0.00004
|
|
NM_201384.3(PLEC):c.5470G>A (p.Ala1824Thr)
|
rs782183816
|
0.00004
|
|
NM_201384.3(PLEC):c.5551G>A (p.Glu1851Lys)
|
rs782074123
|
0.00004
|
|
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val)
|
rs782360547
|
0.00004
|
|
NM_201384.3(PLEC):c.5863G>A (p.Ala1955Thr)
|
rs200374705
|
0.00004
|
|
NM_201384.3(PLEC):c.6017C>T (p.Ala2006Val)
|
rs376537341
|
0.00004
|
|
NM_201384.3(PLEC):c.6074G>A (p.Arg2025Gln)
|
rs546512137
|
0.00004
|
|
NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val)
|
rs781895825
|
0.00004
|
|
NM_201384.3(PLEC):c.6101G>A (p.Arg2034Gln)
|
rs782125805
|
0.00004
|
|
NM_201384.3(PLEC):c.6146C>T (p.Ala2049Val)
|
rs782448792
|
0.00004
|
|
NM_201384.3(PLEC):c.6223G>A (p.Val2075Met)
|
rs782650726
|
0.00004
|
|
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser)
|
rs782450868
|
0.00004
|
|
NM_201384.3(PLEC):c.6326G>A (p.Arg2109Gln)
|
rs373775314
|
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_201384.3(PLEC):c.6442C>T (p.Arg2148Trp)
|
rs559437791
|
0.00004
|
|
NM_201384.3(PLEC):c.6545C>T (p.Ala2182Val)
|
rs375380578
|
0.00004
|
|
NM_201384.3(PLEC):c.6769C>T (p.Arg2257Cys)
|
rs782680911
|
0.00004
|
|
NM_201384.3(PLEC):c.7106A>C (p.Glu2369Ala)
|
rs565837184
|
0.00004
|
|
NM_201384.3(PLEC):c.7340G>A (p.Arg2447His)
|
rs370145018
|
0.00004
|
|
NM_201384.3(PLEC):c.7393G>A (p.Glu2465Lys)
|
rs782413821
|
0.00004
|
|
NM_201384.3(PLEC):c.7738C>T (p.Arg2580Trp)
|
rs531396914
|
0.00004
|
|
NM_201384.3(PLEC):c.8704C>T (p.Arg2902Trp)
|
rs367949674
|
0.00004
|
|
NM_201384.3(PLEC):c.8736G>A (p.Ala2912=)
|
rs561518097
|
0.00004
|
|
NM_201384.3(PLEC):c.9079G>A (p.Ala3027Thr)
|
rs768113059
|
0.00004
|
|
NM_201384.3(PLEC):c.9128C>T (p.Ala3043Val)
|
rs774840288
|
0.00004
|
|
NM_201384.3(PLEC):c.922C>T (p.Pro308Ser)
|
rs200480932
|
0.00004
|
|
NM_201384.3(PLEC):c.9394C>T (p.Arg3132Cys)
|
rs370266957
|
0.00004
|
|
NM_201384.3(PLEC):c.9481G>C (p.Gly3161Arg)
|
rs372072627
|
0.00004
|
|
NM_201384.3(PLEC):c.9659G>A (p.Arg3220Gln)
|
rs371002664
|
0.00004
|
|
NM_201384.3(PLEC):c.9689C>T (p.Ala3230Val)
|
rs782629920
|
0.00004
|
|
NM_201384.3(PLEC):c.9840C>T (p.Thr3280=)
|
rs375274969
|
0.00004
|
|
NM_201548.5(CERKL):c.1255G>A (p.Ala419Thr)
|
rs377625662
|
0.00004
|
|
NM_203486.3(DLL3):c.915C>T (p.Tyr305=)
|
rs372702131
|
0.00004
|
|
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=)
|
rs748007443
|
0.00004
|
|
NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn)
|
rs552242241
|
0.00004
|
|
NM_207361.6(FREM2):c.383C>T (p.Pro128Leu)
|
rs114864077
|
0.00004
|
|
NM_213599.3(ANO5):c.280G>A (p.Ala94Thr)
|
rs367731017
|
0.00004
|
|
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp)
|
rs149040903
|
0.00004
|
|
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
|
rs374211312
|
0.00004
|
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
|
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val)
|
rs1263217341
|
0.00003
|
|
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln)
|
rs886045093
|
0.00003
|
|
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys)
|
rs139003085
|
0.00003
|
|
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
|
rs775559099
|
0.00003
|
|
NM_000036.3(AMPD1):c.950G>A (p.Arg317His)
|
rs142123340
|
0.00003
|
|
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile)
|
rs150655828
|
0.00003
|
|
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
|
rs544269725
|
0.00003
|
|
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
|
rs185448932
|
0.00003
|
|
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
|
rs917387478
|
0.00003
|
|
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
|
rs528337744
|
0.00003
|
|
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
|
rs748263198
|
0.00003
|
|
NM_000037.4(ANK1):c.634A>G (p.Ile212Val)
|
rs563148165
|
0.00003
|
|
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
|
rs948026077
|
0.00003
|
|
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)
|
rs770743762
|
0.00003
|
|
NM_000038.6(APC):c.2870A>G (p.Lys957Arg)
|
rs777881096
|
0.00003
|
|
NM_000038.6(APC):c.5026_5028del (p.Arg1676del)
|
rs768369050
|
0.00003
|
|
NM_000044.6(AR):c.194A>T (p.Gln65Leu)
|
rs1602143327
|
0.00003
|
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
|
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)
|
rs782444523
|
0.00003
|
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
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.1807A>G (p.Ile603Val)
|
rs201649025
|
0.00003
|
|
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr)
|
rs749697583
|
0.00003
|
|
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)
|
rs764247865
|
0.00003
|
|
NM_000070.3(CAPN3):c.560A>G (p.Asn187Ser)
|
rs539315630
|
0.00003
|
|
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr)
|
rs761142449
|
0.00003
|
|
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu)
|
rs752483058
|
0.00003
|
|
NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys)
|
rs199545638
|
0.00003
|
|
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly)
|
rs200343520
|
0.00003
|
|
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys)
|
rs769424853
|
0.00003
|
|
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
|
rs1391243948
|
0.00003
|
|
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile)
|
rs776033238
|
0.00003
|
|
NM_000081.4(LYST):c.1290G>A (p.Met430Ile)
|
rs779163460
|
0.00003
|
|
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
|
rs774419277
|
0.00003
|
|
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
|
rs141083628
|
0.00003
|
|
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
|
rs373840046
|
0.00003
|
|
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
|
rs199768620
|
0.00003
|
|
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
|
rs779239748
|
0.00003
|
|
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
|
rs200512692
|
0.00003
|
|
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
|
rs764415532
|
0.00003
|
|
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)
|
rs186152859
|
0.00003
|
|
NM_000081.4(LYST):c.85G>A (p.Ala29Thr)
|
rs755173231
|
0.00003
|
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
|
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg)
|
rs772516304
|
0.00003
|
|
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr)
|
rs139881658
|
0.00003
|
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
|
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser)
|
rs201113768
|
0.00003
|
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
|
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)
|
rs557118570
|
0.00003
|
|
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)
|
rs200231086
|
0.00003
|
|
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser)
|
rs779303344
|
0.00003
|
|
NM_000089.4(COL1A2):c.845G>A (p.Arg282His)
|
rs542393716
|
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_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)
|
rs569641113
|
0.00003
|
|
NM_000098.3(CPT2):c.1312A>G (p.Met438Val)
|
rs374201361
|
0.00003
|
|
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)
|
rs782559230
|
0.00003
|
|
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)
|
rs116715649
|
0.00003
|
|
NM_000130.5(F5):c.4724A>G (p.Asn1575Ser)
|
rs549128015
|
0.00003
|
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
|
NM_000142.5(FGFR3):c.1315C>T (p.Arg439Cys)
|
rs749083353
|
0.00003
|
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00003
|
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
|
NM_000153.4(GALC):c.479G>C (p.Gly160Ala)
|
rs376415427
|
0.00003
|
|
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp)
|
rs775018136
|
0.00003
|
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
|
NM_000168.6(GLI3):c.2875C>G (p.Leu959Val)
|
rs762852100
|
0.00003
|
|
NM_000168.6(GLI3):c.491G>A (p.Ser164Asn)
|
rs751184252
|
0.00003
|
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
|
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
|
rs373311425
|
0.00003
|
|
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
|
rs768287124
|
0.00003
|
|
NM_000175.5(GPI):c.190G>A (p.Val64Met)
|
rs775411168
|
0.00003
|
|
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
|
rs765378795
|
0.00003
|
|
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)
|
rs183474263
|
0.00003
|
|
NM_000188.3(HK1):c.1057A>C (p.Lys353Gln)
|
rs780258617
|
0.00003
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
rs782697859
|
0.00003
|
|
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)
|
rs950213013
|
0.00003
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
rs753905054
|
0.00003
|
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00003
|
|
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
|
rs771733089
|
0.00003
|
|
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
|
rs371021597
|
0.00003
|
|
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe)
|
rs368524463
|
0.00003
|
|
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
|
rs1018529334
|
0.00003
|
|
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
|
rs1482530778
|
0.00003
|
|
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His)
|
rs202194495
|
0.00003
|
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
|
NM_000240.4(MAOA):c.1081C>G (p.Leu361Val)
|
rs781722252
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val)
|
rs768339148
|
0.00003
|
|
NM_000257.4(MYH7):c.166G>A (p.Gly56Ser)
|
rs759500431
|
0.00003
|
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00003
|
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00003
|
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
|
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)
|
rs781062564
|
0.00003
|
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00003
|
|
NM_000285.4(PEPD):c.778G>A (p.Gly260Arg)
|
rs763716318
|
0.00003
|
|
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
|
rs367667135
|
0.00003
|
|
NM_000298.6(PKLR):c.257G>A (p.Arg86His)
|
rs375471342
|
0.00003
|
|
NM_000302.4(PLOD1):c.466+65C>A
|
rs1569689061
|
0.00003
|
|
NM_000334.4(SCN4A):c.1659C>G (p.His553Gln)
|
rs2509311069
|
0.00003
|
|
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile)
|
rs747401713
|
0.00003
|
|
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr)
|
rs1346442665
|
0.00003
|
|
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg)
|
rs867372759
|
0.00003
|
|
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys)
|
rs369128679
|
0.00003
|
|
NM_000334.4(SCN4A):c.3176G>A (p.Arg1059Gln)
|
rs749433088
|
0.00003
|
|
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln)
|
rs754401226
|
0.00003
|
|
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)
|
rs572380012
|
0.00003
|
|
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile)
|
rs369929462
|
0.00003
|
|
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
|
rs763827415
|
0.00003
|
|
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val)
|
rs748599327
|
0.00003
|
|
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn)
|
rs1015807829
|
0.00003
|
|
NM_000334.4(SCN4A):c.53G>A (p.Arg18His)
|
rs557359808
|
0.00003
|
|
NM_000334.4(SCN4A):c.5453C>T (p.Pro1818Leu)
|
rs556334853
|
0.00003
|
|
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp)
|
rs763866848
|
0.00003
|
|
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu)
|
rs199473250
|
0.00003
|
|
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr)
|
rs373410109
|
0.00003
|
|
NM_000337.6(SGCD):c.-43-1G>A
|
rs767016855
|
0.00003
|
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00003
|
|
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)
|
rs764237334
|
0.00003
|
|
NM_000337.6(SGCD):c.767C>T (p.Thr256Met)
|
rs578056399
|
0.00003
|
|
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)
|
rs187962930
|
0.00003
|
|
NM_000342.4(SLC4A1):c.1159C>T (p.Arg387Trp)
|
rs531459694
|
0.00003
|
|
NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys)
|
rs765891978
|
0.00003
|
|
NM_000342.4(SLC4A1):c.16-3C>T
|
rs750617119
|
0.00003
|
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00003
|
|
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)
|
rs775095594
|
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_000346.4(SOX9):c.904G>A (p.Gly302Ser)
|
rs1414403898
|
0.00003
|
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00003
|
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
|
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
|
rs753181549
|
0.00003
|
|
NM_000365.6(TPI1):c.730A>G (p.Ile244Val)
|
rs143000041
|
0.00003
|
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00003
|
|
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp)
|
rs760506005
|
0.00003
|
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
|
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser)
|
rs751645191
|
0.00003
|
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
|
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)
|
rs142077669
|
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_000426.4(LAMA2):c.1529A>G (p.Asp510Gly)
|
rs772958683
|
0.00003
|
|
NM_000426.4(LAMA2):c.1679A>G (p.Asp560Gly)
|
rs61620549
|
0.00003
|
|
NM_000426.4(LAMA2):c.1782+4A>G
|
rs1302379537
|
0.00003
|
|
NM_000426.4(LAMA2):c.2149A>G (p.Ile717Val)
|
rs369049149
|
0.00003
|
|
NM_000426.4(LAMA2):c.2361A>C (p.Lys787Asn)
|
rs549956055
|
0.00003
|
|
NM_000426.4(LAMA2):c.3086G>A (p.Arg1029Gln)
|
rs149993931
|
0.00003
|
|
NM_000426.4(LAMA2):c.3284G>A (p.Arg1095Gln)
|
rs201518199
|
0.00003
|
|
NM_000426.4(LAMA2):c.3305G>A (p.Arg1102His)
|
rs781580213
|
0.00003
|
|
NM_000426.4(LAMA2):c.3314T>C (p.Leu1105Pro)
|
rs1358703522
|
0.00003
|
|
NM_000426.4(LAMA2):c.3785G>A (p.Arg1262Gln)
|
rs148597169
|
0.00003
|
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
|
NM_000426.4(LAMA2):c.5060G>A (p.Arg1687Gln)
|
rs767209477
|
0.00003
|
|
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)
|
rs373614496
|
0.00003
|
|
NM_000426.4(LAMA2):c.6430A>C (p.Ile2144Leu)
|
rs752034225
|
0.00003
|
|
NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys)
|
rs746883617
|
0.00003
|
|
NM_000426.4(LAMA2):c.7355C>T (p.Ser2452Leu)
|
rs750695778
|
0.00003
|
|
NM_000426.4(LAMA2):c.745C>T (p.Arg249Cys)
|
rs376437110
|
0.00003
|
|
NM_000426.4(LAMA2):c.758C>T (p.Ala253Val)
|
rs1240982123
|
0.00003
|
|
NM_000426.4(LAMA2):c.7876G>A (p.Val2626Ile)
|
rs749605696
|
0.00003
|
|
NM_000426.4(LAMA2):c.7899-3C>T
|
rs549227397
|
0.00003
|
|
NM_000426.4(LAMA2):c.8492G>A (p.Ser2831Asn)
|
rs765680063
|
0.00003
|
|
NM_000426.4(LAMA2):c.8529T>G (p.Asn2843Lys)
|
rs767388786
|
0.00003
|
|
NM_000426.4(LAMA2):c.8690G>A (p.Arg2897Gln)
|
rs201696115
|
0.00003
|
|
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)
|
rs75048006
|
0.00003
|
|
NM_000435.3(NOTCH3):c.6065G>A (p.Arg2022His)
|
rs778080758
|
0.00003
|
|
NM_000435.3(NOTCH3):c.6448C>T (p.Arg2150Cys)
|
rs777802431
|
0.00003
|
|
NM_000443.4(ABCB4):c.2194T>C (p.Phe732Leu)
|
rs558389269
|
0.00003
|
|
NM_000463.3(UGT1A1):c.194C>T (p.Ser65Leu)
|
rs762109713
|
0.00003
|
|
NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln)
|
rs367668492
|
0.00003
|
|
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)
|
rs397978903
|
0.00003
|
|
NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)
|
rs587782246
|
0.00003
|
|
NM_000485.3(APRT):c.250G>A (p.Val84Met)
|
rs200392753
|
0.00003
|
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
|
NM_000493.4(COL10A1):c.865A>G (p.Ile289Val)
|
rs558704595
|
0.00003
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
0.00003
|
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
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_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)
|
rs141650075
|
0.00003
|
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
|
NM_000540.3(RYR1):c.10493G>A (p.Arg3498His)
|
rs529215921
|
0.00003
|
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
|
NM_000540.3(RYR1):c.1126A>G (p.Met376Val)
|
rs376652821
|
0.00003
|
|
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His)
|
rs758651267
|
0.00003
|
|
NM_000540.3(RYR1):c.11615A>C (p.Lys3872Thr)
|
rs753061108
|
0.00003
|
|
NM_000540.3(RYR1):c.11778+3G>C
|
rs758215068
|
0.00003
|
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
0.00003
|
|
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His)
|
rs572373150
|
0.00003
|
|
NM_000540.3(RYR1):c.12806A>G (p.Glu4269Gly)
|
rs762185454
|
0.00003
|
|
NM_000540.3(RYR1):c.13082C>T (p.Ser4361Leu)
|
rs1385549951
|
0.00003
|
|
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)
|
rs1051206491
|
0.00003
|
|
NM_000540.3(RYR1):c.13448T>G (p.Val4483Gly)
|
rs931169553
|
0.00003
|
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
|
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu)
|
rs143520367
|
0.00003
|
|
NM_000540.3(RYR1):c.14069C>T (p.Thr4690Met)
|
rs1210054382
|
0.00003
|
|
NM_000540.3(RYR1):c.14314A>G (p.Ile4772Val)
|
rs371953926
|
0.00003
|
|
NM_000540.3(RYR1):c.1516G>A (p.Ala506Thr)
|
rs770970932
|
0.00003
|
|
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val)
|
rs757908433
|
0.00003
|
|
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp)
|
rs765445445
|
0.00003
|
|
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln)
|
rs370490388
|
0.00003
|
|
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys)
|
rs201401814
|
0.00003
|
|
NM_000540.3(RYR1):c.283G>A (p.Gly95Arg)
|
rs768518462
|
0.00003
|
|
NM_000540.3(RYR1):c.2920G>A (p.Val974Met)
|
rs748676912
|
0.00003
|
|
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln)
|
rs373541911
|
0.00003
|
|
NM_000540.3(RYR1):c.3692G>A (p.Arg1231His)
|
rs558969466
|
0.00003
|
|
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys)
|
rs765121148
|
0.00003
|
|
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile)
|
rs750818753
|
0.00003
|
|
NM_000540.3(RYR1):c.4072G>A (p.Gly1358Arg)
|
rs868508791
|
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.6050A>G (p.Asp2017Gly)
|
rs1302216965
|
0.00003
|
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
|
NM_000540.3(RYR1):c.6374A>G (p.His2125Arg)
|
rs775112843
|
0.00003
|
|
NM_000540.3(RYR1):c.7052A>G (p.Asn2351Ser)
|
rs779349184
|
0.00003
|
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
|
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys)
|
rs751622747
|
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.8191G>A (p.Ala2731Thr)
|
rs761563728
|
0.00003
|
|
NM_000540.3(RYR1):c.820C>T (p.Arg274Cys)
|
rs770370125
|
0.00003
|
|
NM_000540.3(RYR1):c.845G>A (p.Arg282Gln)
|
rs201164249
|
0.00003
|
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
rs951057994
|
0.00003
|
|
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr)
|
rs756311466
|
0.00003
|
|
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu)
|
rs200238436
|
0.00003
|
|
NM_000540.3(RYR1):c.9514A>G (p.Ile3172Val)
|
rs752017854
|
0.00003
|
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00003
|
|
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His)
|
rs750345585
|
0.00003
|
|
NM_000543.5(SMPD1):c.1795C>A (p.Leu599Ile)
|
rs138531908
|
0.00003
|
|
NM_000581.4(GPX1):c.8C>T (p.Ala3Val)
|
rs892235577
|
0.00003
|
|
NM_000632.4(ITGAM):c.890G>A (p.Arg297His)
|
rs369423012
|
0.00003
|
|
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)
|
rs201693439
|
0.00003
|
|
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)
|
rs746243432
|
0.00003
|
|
NM_000637.5(GSR):c.242G>A (p.Arg81His)
|
rs767823911
|
0.00003
|
|
NM_000637.5(GSR):c.781A>G (p.Ile261Val)
|
rs8190997
|
0.00003
|
|
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)
|
rs759461084
|
0.00003
|
|
NM_000718.4(CACNA1B):c.4570G>A (p.Ala1524Thr)
|
rs750210669
|
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_000742.4(CHRNA2):c.1465-3C>T
|
rs375469296
|
0.00003
|
|
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
|
rs375524982
|
0.00003
|
|
NM_000746.6(CHRNA7):c.1141A>G (p.Asn381Asp)
|
rs373847023
|
0.00003
|
|
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg)
|
rs555348704
|
0.00003
|
|
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
|
rs1220106778
|
0.00003
|
|
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)
|
rs563035306
|
0.00003
|
|
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile)
|
rs200743096
|
0.00003
|
|
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
|
rs751310035
|
0.00003
|
|
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp)
|
rs777271963
|
0.00003
|
|
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)
|
rs369631109
|
0.00003
|
|
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)
|
rs756369937
|
0.00003
|
|
NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)
|
rs748064631
|
0.00003
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
0.00003
|
|
NM_001001331.4(ATP2B2):c.1046A>G (p.Lys349Arg)
|
rs536636171
|
0.00003
|
|
NM_001003694.2(BRPF1):c.535G>C (p.Val179Leu)
|
rs747548475
|
0.00003
|
|
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu)
|
rs369806569
|
0.00003
|
|
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676
|
0.00003
|
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
|
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser)
|
rs890297188
|
0.00003
|
|
NM_001005388.3(NFASC):c.-90-4920C>T
|
rs1308592158
|
0.00003
|
|
NM_001006658.3(CR2):c.2561A>G (p.His854Arg)
|
rs780966840
|
0.00003
|
|
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
|
rs536050342
|
0.00003
|
|
NM_001009944.3(PKD1):c.5570C>T (p.Pro1857Leu)
|
rs370941778
|
0.00003
|
|
NM_001010867.4(IBA57):c.104C>T (p.Ser35Phe)
|
rs984974466
|
0.00003
|
|
NM_001012614.2(CTBP1):c.336G>A (p.Ala112=)
|
rs965475865
|
0.00003
|
|
NM_001012614.2(CTBP1):c.564C>T (p.Asn188=)
|
rs747578892
|
0.00003
|
|
NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)
|
rs764747261
|
0.00003
|
|
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp)
|
rs1557830458
|
0.00003
|
|
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)
|
rs1467649797
|
0.00003
|
|
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)
|
rs376135032
|
0.00003
|
|
NM_001037132.4(NRCAM):c.2536A>G (p.Met846Val)
|
rs553748314
|
0.00003
|
|
NM_001037333.3(CYFIP2):c.2461G>A (p.Asp821Asn)
|
rs776958013
|
0.00003
|
|
NM_001038.6(SCNN1A):c.1049G>A (p.Arg350Gln)
|
rs534158738
|
0.00003
|
|
NM_001039396.2(MPEG1):c.1574C>T (p.Ala525Val)
|
rs199736754
|
0.00003
|
|
NM_001042413.2(GLIS3):c.35G>A (p.Arg12Gln)
|
rs753019404
|
0.00003
|
|
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter)
|
rs781626494
|
0.00003
|
|
NM_001042681.2(RERE):c.2300C>T (p.Thr767Met)
|
rs767172334
|
0.00003
|
|
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)
|
rs748391280
|
0.00003
|
|
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
|
rs756531223
|
0.00003
|
|
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
|
rs768264284
|
0.00003
|
|
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr)
|
rs747903773
|
0.00003
|
|
NM_001077365.2(POMT1):c.634G>A (p.Val212Met)
|
rs746119386
|
0.00003
|
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
0.00003
|
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00003
|
|
NM_001077525.3(MTMR14):c.1298G>T (p.Arg433Leu)
|
rs758937216
|
0.00003
|
|
NM_001077525.3(MTMR14):c.626A>G (p.Lys209Arg)
|
rs747671579
|
0.00003
|
|
NM_001077525.3(MTMR14):c.808T>C (p.Phe270Leu)
|
rs374251047
|
0.00003
|
|
NM_001077525.3(MTMR14):c.83G>A (p.Gly28Glu)
|
rs763987152
|
0.00003
|
|
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
|
rs753641411
|
0.00003
|
|
NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln)
|
rs767503045
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys)
|
rs374232934
|
0.00003
|
|
NM_001080442.3(SLC38A8):c.794A>G (p.Tyr265Cys)
|
rs371168310
|
0.00003
|
|
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)
|
rs753558336
|
0.00003
|
|
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)
|
rs779399414
|
0.00003
|
|
NM_001089.3(ABCA3):c.1912C>T (p.Arg638Cys)
|
rs545166587
|
0.00003
|
|
NM_001098816.3(TENM4):c.7939G>A (p.Val2647Ile)
|
rs184305763
|
0.00003
|
|
NM_001100913.3(PACS2):c.1294C>T (p.Arg432Trp)
|
rs782447902
|
0.00003
|
|
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly)
|
rs757846188
|
0.00003
|
|
NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr)
|
rs577201836
|
0.00003
|
|
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg)
|
rs373132971
|
0.00003
|
|
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp)
|
rs397516571
|
0.00003
|
|
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His)
|
rs772909106
|
0.00003
|
|
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe)
|
rs371930065
|
0.00003
|
|
NM_001103146.3(GIGYF2):c.3443C>T (p.Thr1148Met)
|
rs756094059
|
0.00003
|
|
NM_001105206.3(LAMA4):c.5383C>T (p.His1795Tyr)
|
rs782153502
|
0.00003
|
|
NM_001110556.2(FLNA):c.2405-5C>T
|
rs781892155
|
0.00003
|
|
NM_001110556.2(FLNA):c.4455C>T (p.Val1485=)
|
rs2067683151
|
0.00003
|
|
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val)
|
rs782714867
|
0.00003
|
|
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)
|
rs1198953814
|
0.00003
|
|
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)
|
rs375101073
|
0.00003
|
|
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)
|
rs782314807
|
0.00003
|
|
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile)
|
rs570647049
|
0.00003
|
|
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn)
|
rs200537032
|
0.00003
|
|
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)
|
rs774953913
|
0.00003
|
|
NM_001114134.2(EPB42):c.902G>A (p.Arg301His)
|
rs768219449
|
0.00003
|
|
NM_001114748.2(TMEM240):c.328G>A (p.Val110Ile)
|
rs867534273
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
|
rs369344478
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
|
NM_001127392.3(MYRF):c.2735C>T (p.Pro912Leu)
|
rs1490839289
|
0.00003
|
|
NM_001127898.4(CLCN5):c.164-2118G>T
|
rs957427726
|
0.00003
|
|
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
|
rs151024431
|
0.00003
|
|
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)
|
rs368025611
|
0.00003
|
|
NM_001128840.3(CACNA1D):c.3253G>A (p.Asp1085Asn)
|
rs374721231
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys)
|
rs767067922
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.5248C>T (p.Arg1750Cys)
|
rs746521266
|
0.00003
|
|
NM_001130823.3(DNMT1):c.3255C>T (p.Pro1085=)
|
rs375882181
|
0.00003
|
|
NM_001130965.3(SUN1):c.1124A>G (p.Gln375Arg)
|
rs372553774
|
0.00003
|
|
NM_001130987.2(DYSF):c.1276A>C (p.Met426Leu)
|
rs1372661233
|
0.00003
|
|
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)
|
rs765472161
|
0.00003
|
|
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr)
|
rs765027098
|
0.00003
|
|
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)
|
rs749488054
|
0.00003
|
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00003
|
|
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser)
|
rs146819460
|
0.00003
|
|
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)
|
rs749002214
|
0.00003
|
|
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
|
rs769739410
|
0.00003
|
|
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)
|
rs749240847
|
0.00003
|
|
NM_001130987.2(DYSF):c.298G>A (p.Ala100Thr)
|
rs751980650
|
0.00003
|
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00003
|
|
NM_001130987.2(DYSF):c.3212T>G (p.Met1071Arg)
|
rs199679773
|
0.00003
|
|
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)
|
rs748951363
|
0.00003
|
|
NM_001130987.2(DYSF):c.3589G>A (p.Val1197Ile)
|
rs754075406
|
0.00003
|
|
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu)
|
rs368556029
|
0.00003
|
|
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)
|
rs747583441
|
0.00003
|
|
NM_001130987.2(DYSF):c.4093T>G (p.Tyr1365Asp)
|
rs762449165
|
0.00003
|
|
NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)
|
rs749549982
|
0.00003
|
|
NM_001130987.2(DYSF):c.5207G>A (p.Arg1736His)
|
rs777701226
|
0.00003
|
|
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)
|
rs531935195
|
0.00003
|
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
|
NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn)
|
rs1261660052
|
0.00003
|
|
NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)
|
rs761985420
|
0.00003
|
|
NM_001130987.2(DYSF):c.670C>T (p.Arg224Cys)
|
rs369719244
|
0.00003
|
|
NM_001130987.2(DYSF):c.734T>C (p.Leu245Pro)
|
rs148739795
|
0.00003
|
|
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)
|
rs372952394
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu)
|
rs757262372
|
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_001135146.2(SLC39A8):c.*1062C>T
|
rs772236152
|
0.00003
|
|
NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)
|
rs765334272
|
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.2407C>G (p.Gln803Glu)
|
rs563239344
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.2447A>G (p.Lys816Arg)
|
rs1267832123
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.2583G>T (p.Trp861Cys)
|
rs781348830
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.308G>A (p.Arg103Gln)
|
rs951851993
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.3326C>T (p.Ala1109Val)
|
rs989084106
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.3364G>A (p.Glu1122Lys)
|
rs888532398
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.3542G>A (p.Arg1181His)
|
rs867599439
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
|
rs1180628646
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.4102C>T (p.Arg1368Trp)
|
rs908665504
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.415T>G (p.Cys139Gly)
|
rs914380028
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.4631G>A (p.Arg1544Gln)
|
rs757487492
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
|
rs866069095
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.4894G>A (p.Glu1632Lys)
|
rs1027314252
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.5765C>T (p.Ala1922Val)
|
rs1362254280
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.6038G>C (p.Ser2013Thr)
|
rs1049025824
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.6785C>T (p.Pro2262Leu)
|
rs1019871753
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.6899C>T (p.Thr2300Ile)
|
rs993658851
|
0.00003
|
|
NM_001144869.3(LIPT2):c.288G>C (p.Gln96His)
|
rs1482929427
|
0.00003
|
|
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln)
|
rs367989965
|
0.00003
|
|
NM_001145809.2(MYH14):c.2111G>A (p.Arg704His)
|
rs748496477
|
0.00003
|
|
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)
|
rs139625615
|
0.00003
|
|
NM_001161403.3(LIMS2):c.11+1305G>A
|
rs991541495
|
0.00003
|
|
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)
|
rs775140186
|
0.00003
|
|
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val)
|
rs746614706
|
0.00003
|
|
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)
|
rs560750824
|
0.00003
|
|
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile)
|
rs575987494
|
0.00003
|
|
NM_001161403.3(LIMS2):c.754-2A>G
|
rs186779887
|
0.00003
|
|
NM_001163809.2(WDR81):c.2095C>T (p.Arg699Cys)
|
rs531983937
|
0.00003
|
|
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn)
|
rs183321773
|
0.00003
|
|
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
|
rs1207279110
|
0.00003
|
|
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln)
|
rs774454536
|
0.00003
|
|
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val)
|
rs370161504
|
0.00003
|
|
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)
|
rs201614105
|
0.00003
|
|
NM_001164508.2(NEB):c.11033C>T (p.Pro3678Leu)
|
rs752318455
|
0.00003
|
|
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu)
|
rs765379397
|
0.00003
|
|
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
|
rs1429759846
|
0.00003
|
|
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)
|
rs1015014078
|
0.00003
|
|
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)
|
rs772235127
|
0.00003
|
|
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr)
|
rs750705899
|
0.00003
|
|
NM_001164508.2(NEB):c.12427G>A (p.Val4143Met)
|
rs1294827955
|
0.00003
|
|
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744
|
0.00003
|
|
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala)
|
rs762095177
|
0.00003
|
|
NM_001164508.2(NEB):c.18002A>G (p.Asn6001Ser)
|
rs921572709
|
0.00003
|
|
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)
|
rs781706876
|
0.00003
|
|
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701
|
0.00003
|
|
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)
|
rs185999504
|
0.00003
|
|
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)
|
rs776334631
|
0.00003
|
|
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)
|
rs767873861
|
0.00003
|
|
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)
|
rs370764959
|
0.00003
|
|
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)
|
rs781020561
|
0.00003
|
|
NM_001164508.2(NEB):c.21055C>T (p.Arg7019Cys)
|
rs751870182
|
0.00003
|
|
NM_001164508.2(NEB):c.21262G>A (p.Asp7088Asn)
|
rs182252292
|
0.00003
|
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
|
NM_001164508.2(NEB):c.23081C>T (p.Thr7694Ile)
|
rs778560255
|
0.00003
|
|
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr)
|
rs757006805
|
0.00003
|
|
NM_001164508.2(NEB):c.23146C>A (p.Leu7716Met)
|
rs376977065
|
0.00003
|
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
|
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)
|
rs750689059
|
0.00003
|
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00003
|
|
NM_001164508.2(NEB):c.23834C>T (p.Ser7945Leu)
|
rs755970391
|
0.00003
|
|
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu)
|
rs541150975
|
0.00003
|
|
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile)
|
rs1482662133
|
0.00003
|
|
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592
|
0.00003
|
|
NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)
|
rs759141794
|
0.00003
|
|
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)
|
rs746031384
|
0.00003
|
|
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)
|
rs371600800
|
0.00003
|
|
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)
|
rs368642083
|
0.00003
|
|
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
|
rs773587392
|
0.00003
|
|
NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala)
|
rs757339655
|
0.00003
|
|
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)
|
rs534646949
|
0.00003
|
|
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418
|
0.00003
|
|
NM_001164508.2(NEB):c.5194A>G (p.Met1732Val)
|
rs368120887
|
0.00003
|
|
NM_001164508.2(NEB):c.5819T>C (p.Leu1940Pro)
|
rs749308804
|
0.00003
|
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
|
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792
|
0.00003
|
|
NM_001164508.2(NEB):c.6075+3A>C
|
rs986325764
|
0.00003
|
|
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149
|
0.00003
|
|
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179
|
0.00003
|
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00003
|
|
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu)
|
rs369374856
|
0.00003
|
|
NM_001164508.2(NEB):c.7432-1183C>A
|
rs1002845960
|
0.00003
|
|
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)
|
rs368148074
|
0.00003
|
|
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn)
|
rs267598926
|
0.00003
|
|
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met)
|
rs905660353
|
0.00003
|
|
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp)
|
rs375216659
|
0.00003
|
|
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
|
rs530692325
|
0.00003
|
|
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys)
|
rs377606986
|
0.00003
|
|
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
|
rs373793316
|
0.00003
|
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
|
NM_001164508.2(NEB):c.9847G>A (p.Gly3283Ser)
|
rs769578834
|
0.00003
|
|
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala)
|
rs377097035
|
0.00003
|
|
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
|
rs768077001
|
0.00003
|
|
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe)
|
rs537233133
|
0.00003
|
|
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)
|
rs72657700
|
0.00003
|
|
NM_001171613.2(PREPL):c.1597C>T (p.Arg533Cys)
|
rs145088151
|
0.00003
|
|
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)
|
rs550306731
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.1267G>A (p.Gly423Ser)
|
rs758354118
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.442C>G (p.Gln148Glu)
|
rs551773096
|
0.00003
|
|
NM_001184.4(ATR):c.3143A>T (p.Glu1048Val)
|
rs901999537
|
0.00003
|
|
NM_001184.4(ATR):c.5071G>A (p.Gly1691Arg)
|
rs1309474194
|
0.00003
|
|
NM_001190737.2(NFIB):c.550G>A (p.Val184Met)
|
rs1363394549
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.279G>C (p.Gln93His)
|
rs769730725
|
0.00003
|
|
NM_001195248.2(APTX):c.773A>G (p.His258Arg)
|
rs763987865
|
0.00003
|
|
NM_001197104.2(KMT2A):c.4933A>G (p.Ile1645Val)
|
rs377485215
|
0.00003
|
|
NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter)
|
rs765641913
|
0.00003
|
|
NM_001199563.2(POPDC1):c.551C>T (p.Ser184Phe)
|
rs773006447
|
0.00003
|
|
NM_001200.4(BMP2):c.307G>A (p.Ala103Thr)
|
rs754625577
|
0.00003
|
|
NM_001200.4(BMP2):c.788T>C (p.Leu263Ser)
|
rs199628088
|
0.00003
|
|
NM_001205254.2(OCLN):c.215T>G (p.Ile72Ser)
|
rs771276299
|
0.00003
|
|
NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His)
|
rs777347120
|
0.00003
|
|
NM_001206744.2(TPO):c.1516G>A (p.Ala506Thr)
|
rs775435578
|
0.00003
|
|
NM_001206744.2(TPO):c.587T>C (p.Leu196Ser)
|
rs370357356
|
0.00003
|
|
NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp)
|
rs540727841
|
0.00003
|
|
NM_001231.5(CASQ1):c.143G>A (p.Arg48His)
|
rs368579149
|
0.00003
|
|
NM_001231.5(CASQ1):c.574G>C (p.Glu192Gln)
|
rs182841353
|
0.00003
|
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
|
NM_001235.5(SERPINH1):c.1020G>A (p.Met340Ile)
|
rs201416803
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
|
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)
|
rs148828956
|
0.00003
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
rs375546208
|
0.00003
|
|
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
|
rs777997220
|
0.00003
|
|
NM_001267052.2(UNC45B):c.755T>C (p.Leu252Ser)
|
rs756689727
|
0.00003
|
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00003
|
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
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.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
|
NM_001267550.2(TTN):c.102094_102096dup (p.Tyr34032dup)
|
rs763311506
|
0.00003
|
|
NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys)
|
rs750864230
|
0.00003
|
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00003
|
|
NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg)
|
rs544590023
|
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.104333C>T (p.Thr34778Met)
|
rs762158917
|
0.00003
|
|
NM_001267550.2(TTN):c.104359A>G (p.Lys34787Glu)
|
rs769788281
|
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.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
|
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)
|
rs560557634
|
0.00003
|
|
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu)
|
rs750660824
|
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.1141G>A (p.Gly381Ser)
|
rs200848334
|
0.00003
|
|
NM_001267550.2(TTN):c.1175C>T (p.Ala392Val)
|
rs779169850
|
0.00003
|
|
NM_001267550.2(TTN):c.1232C>G (p.Thr411Ser)
|
rs886042193
|
0.00003
|
|
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)
|
rs371639583
|
0.00003
|
|
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly)
|
rs369989679
|
0.00003
|
|
NM_001267550.2(TTN):c.14828C>A (p.Ala4943Glu)
|
rs540497678
|
0.00003
|
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
|
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg)
|
rs377754692
|
0.00003
|
|
NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met)
|
rs756844952
|
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.19786A>G (p.Ile6596Val)
|
rs369108292
|
0.00003
|
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
|
NM_001267550.2(TTN):c.20099T>C (p.Val6700Ala)
|
rs367635778
|
0.00003
|
|
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)
|
rs754476903
|
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.21653C>T (p.Ala7218Val)
|
rs763125654
|
0.00003
|
|
NM_001267550.2(TTN):c.21686C>A (p.Pro7229Gln)
|
rs375402191
|
0.00003
|
|
NM_001267550.2(TTN):c.21784_21786del (p.Thr7262del)
|
rs763986718
|
0.00003
|
|
NM_001267550.2(TTN):c.21829A>G (p.Asn7277Asp)
|
rs758247611
|
0.00003
|
|
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)
|
rs560272834
|
0.00003
|
|
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile)
|
rs769333723
|
0.00003
|
|
NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser)
|
rs368750726
|
0.00003
|
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
|
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp)
|
rs184123332
|
0.00003
|
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00003
|
|
NM_001267550.2(TTN):c.2428C>T (p.Arg810Cys)
|
rs375132408
|
0.00003
|
|
NM_001267550.2(TTN):c.2440C>T (p.Pro814Ser)
|
rs369885702
|
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.26246T>C (p.Val8749Ala)
|
rs770874023
|
0.00003
|
|
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly)
|
rs558169834
|
0.00003
|
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
|
NM_001267550.2(TTN):c.28204C>T (p.Arg9402Cys)
|
rs369553799
|
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.28456A>G (p.Ile9486Val)
|
rs1327402224
|
0.00003
|
|
NM_001267550.2(TTN):c.28643C>T (p.Thr9548Met)
|
rs752064053
|
0.00003
|
|
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile)
|
rs769996978
|
0.00003
|
|
NM_001267550.2(TTN):c.29062G>C (p.Ala9688Pro)
|
rs749146795
|
0.00003
|
|
NM_001267550.2(TTN):c.29253C>T (p.Gly9751=)
|
rs771825568
|
0.00003
|
|
NM_001267550.2(TTN):c.29254G>A (p.Asp9752Asn)
|
rs1420103092
|
0.00003
|
|
NM_001267550.2(TTN):c.29476C>A (p.Leu9826Ile)
|
rs777309739
|
0.00003
|
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
|
NM_001267550.2(TTN):c.31135G>A (p.Glu10379Lys)
|
rs372123965
|
0.00003
|
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
|
NM_001267550.2(TTN):c.31702G>A (p.Val10568Met)
|
rs761061943
|
0.00003
|
|
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)
|
rs376287951
|
0.00003
|
|
NM_001267550.2(TTN):c.31841C>A (p.Ala10614Asp)
|
rs376754004
|
0.00003
|
|
NM_001267550.2(TTN):c.33065G>A (p.Arg11022Gln)
|
rs879042216
|
0.00003
|
|
NM_001267550.2(TTN):c.34072G>T (p.Val11358Phe)
|
rs1227088008
|
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.35194G>A (p.Glu11732Lys)
|
rs939014361
|
0.00003
|
|
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr)
|
rs398124447
|
0.00003
|
|
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)
|
rs763845436
|
0.00003
|
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
|
NM_001267550.2(TTN):c.39152T>C (p.Val13051Ala)
|
rs72650061
|
0.00003
|
|
NM_001267550.2(TTN):c.39275C>T (p.Pro13092Leu)
|
rs373791597
|
0.00003
|
|
NM_001267550.2(TTN):c.40600C>T (p.Pro13534Ser)
|
rs770091359
|
0.00003
|
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
|
NM_001267550.2(TTN):c.41099T>C (p.Val13700Ala)
|
rs1438452689
|
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.44741G>A (p.Cys14914Tyr)
|
rs773211286
|
0.00003
|
|
NM_001267550.2(TTN):c.44791A>G (p.Thr14931Ala)
|
rs779264506
|
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.4532G>A (p.Gly1511Asp)
|
rs751606948
|
0.00003
|
|
NM_001267550.2(TTN):c.45739A>C (p.Ile15247Leu)
|
rs373857517
|
0.00003
|
|
NM_001267550.2(TTN):c.45835G>A (p.Val15279Met)
|
rs727504197
|
0.00003
|
|
NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln)
|
rs773073914
|
0.00003
|
|
NM_001267550.2(TTN):c.46516G>C (p.Asp15506His)
|
rs755611206
|
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.47938A>G (p.Ile15980Val)
|
rs780634456
|
0.00003
|
|
NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys)
|
rs774736458
|
0.00003
|
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
|
NM_001267550.2(TTN):c.48337G>A (p.Glu16113Lys)
|
rs548275593
|
0.00003
|
|
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala)
|
rs745999025
|
0.00003
|
|
NM_001267550.2(TTN):c.48932C>A (p.Pro16311His)
|
rs763372996
|
0.00003
|
|
NM_001267550.2(TTN):c.50554C>T (p.Pro16852Ser)
|
rs752660748
|
0.00003
|
|
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)
|
rs752204728
|
0.00003
|
|
NM_001267550.2(TTN):c.50797G>A (p.Ala16933Thr)
|
rs794729452
|
0.00003
|
|
NM_001267550.2(TTN):c.51459T>G (p.Asp17153Glu)
|
rs151281257
|
0.00003
|
|
NM_001267550.2(TTN):c.5147G>A (p.Arg1716His)
|
rs771659260
|
0.00003
|
|
NM_001267550.2(TTN):c.51943G>A (p.Val17315Ile)
|
rs778099881
|
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.52706C>A (p.Ser17569Tyr)
|
rs756689649
|
0.00003
|
|
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)
|
rs748265704
|
0.00003
|
|
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)
|
rs536494011
|
0.00003
|
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
|
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys)
|
rs554701601
|
0.00003
|
|
NM_001267550.2(TTN):c.54812-3T>C
|
rs2470055531
|
0.00003
|
|
NM_001267550.2(TTN):c.55054G>A (p.Val18352Ile)
|
rs769334194
|
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.5644C>T (p.Arg1882Cys)
|
rs397517658
|
0.00003
|
|
NM_001267550.2(TTN):c.56573G>A (p.Arg18858Gln)
|
rs755848019
|
0.00003
|
|
NM_001267550.2(TTN):c.56854G>A (p.Gly18952Ser)
|
rs766126662
|
0.00003
|
|
NM_001267550.2(TTN):c.57197T>C (p.Val19066Ala)
|
rs537440385
|
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.58207G>C (p.Ala19403Pro)
|
rs545185154
|
0.00003
|
|
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val)
|
rs1060500484
|
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.61447C>T (p.Arg20483Cys)
|
rs770139489
|
0.00003
|
|
NM_001267550.2(TTN):c.61483C>T (p.Arg20495Cys)
|
rs370128504
|
0.00003
|
|
NM_001267550.2(TTN):c.61496G>A (p.Arg20499Gln)
|
rs201286988
|
0.00003
|
|
NM_001267550.2(TTN):c.6163G>A (p.Glu2055Lys)
|
rs763733251
|
0.00003
|
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
|
NM_001267550.2(TTN):c.6244G>A (p.Glu2082Lys)
|
rs750064248
|
0.00003
|
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
|
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro)
|
rs1001628726
|
0.00003
|
|
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)
|
rs568886353
|
0.00003
|
|
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His)
|
rs775651612
|
0.00003
|
|
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg)
|
rs575313522
|
0.00003
|
|
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys)
|
rs762999586
|
0.00003
|
|
NM_001267550.2(TTN):c.64885G>A (p.Glu21629Lys)
|
rs746364765
|
0.00003
|
|
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu)
|
rs368450785
|
0.00003
|
|
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)
|
rs752176305
|
0.00003
|
|
NM_001267550.2(TTN):c.65783G>A (p.Arg21928Gln)
|
rs769057462
|
0.00003
|
|
NM_001267550.2(TTN):c.66099A>C (p.Glu22033Asp)
|
rs768277403
|
0.00003
|
|
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)
|
rs757537780
|
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.67820C>T (p.Thr22607Ile)
|
rs771603862
|
0.00003
|
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
|
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg)
|
rs761210578
|
0.00003
|
|
NM_001267550.2(TTN):c.68525T>C (p.Ile22842Thr)
|
rs368301580
|
0.00003
|
|
NM_001267550.2(TTN):c.69205G>A (p.Gly23069Ser)
|
rs183977969
|
0.00003
|
|
NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)
|
rs750182587
|
0.00003
|
|
NM_001267550.2(TTN):c.69829G>A (p.Val23277Met)
|
rs371513781
|
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.70423C>T (p.Arg23475Cys)
|
rs761442543
|
0.00003
|
|
NM_001267550.2(TTN):c.70673A>G (p.His23558Arg)
|
rs765191581
|
0.00003
|
|
NM_001267550.2(TTN):c.7159G>A (p.Val2387Ile)
|
rs377691143
|
0.00003
|
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
|
NM_001267550.2(TTN):c.72967A>G (p.Lys24323Glu)
|
rs143241129
|
0.00003
|
|
NM_001267550.2(TTN):c.73213G>A (p.Glu24405Lys)
|
rs764485436
|
0.00003
|
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
|
NM_001267550.2(TTN):c.73859C>T (p.Pro24620Leu)
|
rs370763285
|
0.00003
|
|
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln)
|
rs745488276
|
0.00003
|
|
NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr)
|
rs759448340
|
0.00003
|
|
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe)
|
rs559907766
|
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.76031G>A (p.Arg25344Gln)
|
rs556179271
|
0.00003
|
|
NM_001267550.2(TTN):c.76439G>A (p.Arg25480His)
|
rs759416649
|
0.00003
|
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
|
NM_001267550.2(TTN):c.77383G>C (p.Val25795Leu)
|
rs928219120
|
0.00003
|
|
NM_001267550.2(TTN):c.78020T>C (p.Met26007Thr)
|
rs372188921
|
0.00003
|
|
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg)
|
rs370963021
|
0.00003
|
|
NM_001267550.2(TTN):c.78929C>T (p.Pro26310Leu)
|
rs754702040
|
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.79481C>T (p.Ala26494Val)
|
rs368484949
|
0.00003
|
|
NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu)
|
rs532706350
|
0.00003
|
|
NM_001267550.2(TTN):c.80373T>A (p.Asp26791Glu)
|
rs749401230
|
0.00003
|
|
NM_001267550.2(TTN):c.80658T>G (p.Phe26886Leu)
|
rs777520116
|
0.00003
|
|
NM_001267550.2(TTN):c.80755C>A (p.Pro26919Thr)
|
rs879200886
|
0.00003
|
|
NM_001267550.2(TTN):c.80785G>A (p.Glu26929Lys)
|
rs878894717
|
0.00003
|
|
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)
|
rs749194310
|
0.00003
|
|
NM_001267550.2(TTN):c.81844A>G (p.Lys27282Glu)
|
rs761201021
|
0.00003
|
|
NM_001267550.2(TTN):c.82112G>A (p.Gly27371Glu)
|
rs766785319
|
0.00003
|
|
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys)
|
rs377169807
|
0.00003
|
|
NM_001267550.2(TTN):c.82498G>A (p.Glu27500Lys)
|
rs375422359
|
0.00003
|
|
NM_001267550.2(TTN):c.8269G>A (p.Val2757Ile)
|
rs769822096
|
0.00003
|
|
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)
|
rs761633407
|
0.00003
|
|
NM_001267550.2(TTN):c.84131T>C (p.Ile28044Thr)
|
rs1004500080
|
0.00003
|
|
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)
|
rs752974639
|
0.00003
|
|
NM_001267550.2(TTN):c.84437T>C (p.Val28146Ala)
|
rs755354570
|
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.85432G>A (p.Asp28478Asn)
|
rs375744985
|
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.88225C>T (p.Arg29409Cys)
|
rs756724511
|
0.00003
|
|
NM_001267550.2(TTN):c.88309G>A (p.Gly29437Ser)
|
rs199916082
|
0.00003
|
|
NM_001267550.2(TTN):c.88486G>A (p.Ala29496Thr)
|
rs751491298
|
0.00003
|
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00003
|
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
|
NM_001267550.2(TTN):c.89414A>G (p.Asn29805Ser)
|
rs369285180
|
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.92455G>A (p.Val30819Ile)
|
rs368511235
|
0.00003
|
|
NM_001267550.2(TTN):c.92756G>A (p.Arg30919Gln)
|
rs749986129
|
0.00003
|
|
NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val)
|
rs756786292
|
0.00003
|
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
|
NM_001267550.2(TTN):c.93242C>T (p.Ala31081Val)
|
rs1032232850
|
0.00003
|
|
NM_001267550.2(TTN):c.93305A>G (p.Tyr31102Cys)
|
rs374084427
|
0.00003
|
|
NM_001267550.2(TTN):c.93388G>A (p.Ala31130Thr)
|
rs759107930
|
0.00003
|
|
NM_001267550.2(TTN):c.93974C>T (p.Ser31325Leu)
|
rs143679526
|
0.00003
|
|
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile)
|
rs780436747
|
0.00003
|
|
NM_001267550.2(TTN):c.9442C>T (p.Arg3148Cys)
|
rs372196051
|
0.00003
|
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00003
|
|
NM_001267550.2(TTN):c.94591G>A (p.Ala31531Thr)
|
rs765066425
|
0.00003
|
|
NM_001267550.2(TTN):c.94843G>A (p.Glu31615Lys)
|
rs72648254
|
0.00003
|
|
NM_001267550.2(TTN):c.95095G>A (p.Val31699Met)
|
rs751420355
|
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.96644C>G (p.Thr32215Ser)
|
rs975713554
|
0.00003
|
|
NM_001267550.2(TTN):c.96803A>G (p.Asn32268Ser)
|
rs769680688
|
0.00003
|
|
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)
|
rs1024823449
|
0.00003
|
|
NM_001267550.2(TTN):c.97348G>A (p.Val32450Ile)
|
rs397517769
|
0.00003
|
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00003
|
|
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg)
|
rs727505311
|
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_001267550.2(TTN):c.98797T>C (p.Tyr32933His)
|
rs775150547
|
0.00003
|
|
NM_001267550.2(TTN):c.9883A>G (p.Thr3295Ala)
|
rs145053177
|
0.00003
|
|
NM_001267550.2(TTN):c.99073G>A (p.Asp33025Asn)
|
rs878998371
|
0.00003
|
|
NM_001267550.2(TTN):c.99358C>T (p.Leu33120Phe)
|
rs772473414
|
0.00003
|
|
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln)
|
rs572047686
|
0.00003
|
|
NM_001282531.3(ADNP):c.2138C>T (p.Ala713Val)
|
rs375998490
|
0.00003
|
|
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His)
|
rs756595568
|
0.00003
|
|
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln)
|
rs377051194
|
0.00003
|
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
|
NM_001289808.2(CRYAB):c.-9C>T
|
rs373114236
|
0.00003
|
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
|
NM_001289808.2(CRYAB):c.469C>T (p.Arg157Cys)
|
rs374169381
|
0.00003
|
|
NM_001291303.3(FAT4):c.1663C>T (p.Arg555Trp)
|
rs756991867
|
0.00003
|
|
NM_001291303.3(FAT4):c.4721C>T (p.Thr1574Ile)
|
rs765526876
|
0.00003
|
|
NM_001302769.2(PARD3B):c.1693G>A (p.Glu565Lys)
|
rs755830374
|
0.00003
|
|
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
|
rs746158624
|
0.00003
|
|
NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)
|
rs772187983
|
0.00003
|
|
NM_001324418.2(ADAM22):c.1388C>T (p.Pro463Leu)
|
rs372937043
|
0.00003
|
|
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)
|
rs771231471
|
0.00003
|
|
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val)
|
rs202187894
|
0.00003
|
|
NM_001348716.2(KDM6B):c.2173C>G (p.Leu725Val)
|
rs745461436
|
0.00003
|
|
NM_001348768.2(HECW2):c.3083C>T (p.Ala1028Val)
|
rs781245346
|
0.00003
|
|
NM_001348768.2(HECW2):c.4280G>A (p.Arg1427His)
|
rs760300569
|
0.00003
|
|
NM_001348800.3(ZBTB20):c.1055A>T (p.Glu352Val)
|
rs1354492860
|
0.00003
|
|
NM_001349253.2(SCN11A):c.89G>A (p.Arg30Gln)
|
rs775942010
|
0.00003
|
|
NM_001349338.3(FOXP1):c.301A>G (p.Met101Val)
|
rs564508875
|
0.00003
|
|
NM_001352027.3(PHF21A):c.1933T>C (p.Ser645Pro)
|
rs1023133603
|
0.00003
|
|
NM_001353345.2(SETD1B):c.1004C>T (p.Ala335Val)
|
rs866262581
|
0.00003
|
|
NM_001353345.2(SETD1B):c.4630G>A (p.Ala1544Thr)
|
rs868306191
|
0.00003
|
|
NM_001353788.2(APBA2):c.1826C>T (p.Ser609Leu)
|
rs754328467
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
rs1286076100
|
0.00003
|
|
NM_001355436.2(SPTB):c.1042C>T (p.Arg348Cys)
|
rs139871838
|
0.00003
|
|
NM_001355436.2(SPTB):c.1327C>T (p.Arg443Cys)
|
rs372278924
|
0.00003
|
|
NM_001355436.2(SPTB):c.1729A>G (p.Ile577Val)
|
rs144668591
|
0.00003
|
|
NM_001355436.2(SPTB):c.2323G>A (p.Glu775Lys)
|
rs551791156
|
0.00003
|
|
NM_001355436.2(SPTB):c.3112C>T (p.His1038Tyr)
|
rs760088579
|
0.00003
|
|
NM_001355436.2(SPTB):c.430C>T (p.Arg144Cys)
|
rs547207486
|
0.00003
|
|
NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln)
|
rs148127231
|
0.00003
|
|
NM_001355436.2(SPTB):c.4819G>A (p.Val1607Ile)
|
rs763407007
|
0.00003
|
|
NM_001355436.2(SPTB):c.5032G>A (p.Val1678Met)
|
rs188341589
|
0.00003
|
|
NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn)
|
rs866363880
|
0.00003
|
|
NM_001365276.2(TNXB):c.12493G>A (p.Gly4165Ser)
|
rs1172643715
|
0.00003
|
|
NM_001365276.2(TNXB):c.1530C>T (p.Gly510=)
|
rs377075950
|
0.00003
|
|
NM_001365276.2(TNXB):c.1756G>A (p.Gly586Ser)
|
rs563266055
|
0.00003
|
|
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)
|
rs369148683
|
0.00003
|
|
NM_001365536.1(SCN9A):c.2650G>A (p.Gly884Ser)
|
rs202177070
|
0.00003
|
|
NM_001365925.2(NLGN1):c.2024A>G (p.Gln675Arg)
|
rs371260889
|
0.00003
|
|
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
|
rs35870526
|
0.00003
|
|
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)
|
rs749610931
|
0.00003
|
|
NM_001365999.1(SZT2):c.8006A>G (p.Asp2669Gly)
|
rs201418010
|
0.00003
|
|
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)
|
rs746733236
|
0.00003
|
|
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
|
rs559197892
|
0.00003
|
|
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
|
rs372880878
|
0.00003
|
|
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser)
|
rs771037817
|
0.00003
|
|
NM_001368397.1(FRMPD4):c.2003C>A (p.Thr668Asn)
|
rs376545795
|
0.00003
|
|
NM_001370.2(DNAH6):c.757G>A (p.Glu253Lys)
|
rs758329151
|
0.00003
|
|
NM_001370100.5(ZMYND11):c.1199G>A (p.Arg400His)
|
rs764737929
|
0.00003
|
|
NM_001370298.3(FGD4):c.752C>T (p.Thr251Ile)
|
rs1275349308
|
0.00003
|
|
NM_001370298.3(FGD4):c.827C>T (p.Pro276Leu)
|
rs560319643
|
0.00003
|
|
NM_001370298.3(FGD4):c.962G>A (p.Gly321Glu)
|
rs374502000
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_001371928.1(AHDC1):c.1537G>A (p.Val513Met)
|
rs772405848
|
0.00003
|
|
NM_001371928.1(AHDC1):c.2672G>A (p.Arg891Gln)
|
rs770718017
|
0.00003
|
|
NM_001371986.1(UNC80):c.5275A>G (p.Met1759Val)
|
rs539851730
|
0.00003
|
|
NM_001371986.1(UNC80):c.9345A>G (p.Gln3115=)
|
rs368634423
|
0.00003
|
|
NM_001374353.1(GLI2):c.1766G>A (p.Arg589His)
|
rs745409561
|
0.00003
|
|
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys)
|
rs773976966
|
0.00003
|
|
NM_001374353.1(GLI2):c.2303A>T (p.Asn768Ile)
|
rs768131638
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)
|
rs148715351
|
0.00003
|
|
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)
|
rs151115781
|
0.00003
|
|
NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu)
|
rs368420323
|
0.00003
|
|
NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)
|
rs561130072
|
0.00003
|
|
NM_001375524.1(TRRAP):c.8458A>G (p.Ile2820Val)
|
rs140534199
|
0.00003
|
|
NM_001375808.2(LPIN2):c.1274C>T (p.Ser425Leu)
|
rs772737665
|
0.00003
|
|
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met)
|
rs148620026
|
0.00003
|
|
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
|
rs199751917
|
0.00003
|
|
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
|
rs981043937
|
0.00003
|
|
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
|
rs552908580
|
0.00003
|
|
NM_001376571.1(MADD):c.1778G>A (p.Arg593His)
|
rs527582220
|
0.00003
|
|
NM_001377540.1(SLMAP):c.407G>A (p.Arg136Gln)
|
rs142516364
|
0.00003
|
|
NM_001378.3(DYNC1I2):c.1678-3T>C
|
rs749143484
|
0.00003
|
|
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter)
|
rs887921636
|
0.00003
|
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
|
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr)
|
rs769330358
|
0.00003
|
|
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val)
|
rs773522192
|
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.2032C>T (p.Leu678=)
|
rs999773875
|
0.00003
|
|
NM_001378418.1(TCF20):c.3268T>C (p.Tyr1090His)
|
rs149917963
|
0.00003
|
|
NM_001378418.1(TCF20):c.3604G>A (p.Gly1202Ser)
|
rs149389913
|
0.00003
|
|
NM_001378452.1(ITPR1):c.1002C>A (p.Asp334Glu)
|
rs539511625
|
0.00003
|
|
NM_001378452.1(ITPR1):c.1015G>A (p.Ala339Thr)
|
rs1281353068
|
0.00003
|
|
NM_001378457.1(DMXL2):c.3736C>G (p.Pro1246Ala)
|
rs956020382
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)
|
rs751646059
|
0.00003
|
|
NM_001379659.1(ZNF142):c.4157T>C (p.Met1386Thr)
|
rs759312228
|
0.00003
|
|
NM_001382347.1(MYO5A):c.2527G>A (p.Val843Ile)
|
rs374266181
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
|
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)
|
rs767140972
|
0.00003
|
|
NM_001384125.1(BLTP1):c.10784C>T (p.Pro3595Leu)
|
rs774454187
|
0.00003
|
|
NM_001384479.1(AGT):c.1405G>A (p.Val469Met)
|
rs766166368
|
0.00003
|
|
NM_001384609.1(SLITRK5):c.2527G>T (p.Asp843Tyr)
|
rs375385227
|
0.00003
|
|
NM_001385001.1(MCTP2):c.680C>T (p.Thr227Met)
|
rs142693579
|
0.00003
|
|
NM_001385012.1(NBEA):c.3008T>C (p.Ile1003Thr)
|
rs534046290
|
0.00003
|
|
NM_001385012.1(NBEA):c.3239C>G (p.Thr1080Ser)
|
rs764556537
|
0.00003
|
|
NM_001385012.1(NBEA):c.3616A>G (p.Lys1206Glu)
|
rs771383700
|
0.00003
|
|
NM_001386125.1(OBSCN):c.8657G>A (p.Arg2886His)
|
rs776198906
|
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_001386298.1(CIC):c.7469C>T (p.Ser2490Leu)
|
rs530430600
|
0.00003
|
|
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)
|
rs559623184
|
0.00003
|
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
|
NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val)
|
rs186823009
|
0.00003
|
|
NM_001389.5(DSCAM):c.5048C>T (p.Thr1683Met)
|
rs747942534
|
0.00003
|
|
NM_001393769.1(MED12L):c.6028G>A (p.Ala2010Thr)
|
rs745403446
|
0.00003
|
|
NM_001394062.1(MACF1):c.3698G>A (p.Arg1233Gln)
|
rs767291598
|
0.00003
|
|
NM_001395413.1(POR):c.64C>T (p.Leu22Phe)
|
rs782318066
|
0.00003
|
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
|
NM_001451.3(FOXF1):c.771G>T (p.Met257Ile)
|
rs997423935
|
0.00003
|
|
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)
|
rs370716086
|
0.00003
|
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00003
|
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
|
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met)
|
rs779802575
|
0.00003
|
|
NM_001458.5(FLNC):c.1849G>A (p.Glu617Lys)
|
rs773961444
|
0.00003
|
|
NM_001458.5(FLNC):c.2281G>A (p.Gly761Ser)
|
rs374691339
|
0.00003
|
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00003
|
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00003
|
|
NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr)
|
rs781760817
|
0.00003
|
|
NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val)
|
rs780461379
|
0.00003
|
|
NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu)
|
rs769243979
|
0.00003
|
|
NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln)
|
rs768767784
|
0.00003
|
|
NM_001458.5(FLNC):c.3833G>A (p.Arg1278Lys)
|
rs540117605
|
0.00003
|
|
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp)
|
rs372454458
|
0.00003
|
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
|
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
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.6715C>T (p.Arg2239Trp)
|
rs367820987
|
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.7309C>T (p.Arg2437Trp)
|
rs756353876
|
0.00003
|
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00003
|
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
|
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val)
|
rs369110441
|
0.00003
|
|
NM_001498.4(GCLC):c.346G>A (p.Glu116Lys)
|
rs551784270
|
0.00003
|
|
NM_001498.4(GCLC):c.94C>T (p.His32Tyr)
|
rs1462744232
|
0.00003
|
|
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
|
rs566952354
|
0.00003
|
|
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)
|
rs750489076
|
0.00003
|
|
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu)
|
rs369147317
|
0.00003
|
|
NM_001606.5(ABCA2):c.281C>T (p.Thr94Met)
|
rs527726916
|
0.00003
|
|
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
|
rs755077502
|
0.00003
|
|
NM_001625.4(AK2):c.557G>A (p.Arg186His)
|
rs754485826
|
0.00003
|
|
NM_001673.5(ASNS):c.164C>T (p.Pro55Leu)
|
rs780414978
|
0.00003
|
|
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser)
|
rs370315332
|
0.00003
|
|
NM_001807.6(CEL):c.2123A>T (p.Asp708Val)
|
rs761709433
|
0.00003
|
|
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val)
|
rs201381518
|
0.00003
|
|
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu)
|
rs778135776
|
0.00003
|
|
NM_001845.6(COL4A1):c.1451C>A (p.Pro484His)
|
rs371902686
|
0.00003
|
|
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)
|
rs769408707
|
0.00003
|
|
NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)
|
rs936274247
|
0.00003
|
|
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)
|
rs750620293
|
0.00003
|
|
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala)
|
rs780116763
|
0.00003
|
|
NM_001848.3(COL6A1):c.1442A>T (p.Glu481Val)
|
rs556176545
|
0.00003
|
|
NM_001848.3(COL6A1):c.1583C>T (p.Pro528Leu)
|
rs181256566
|
0.00003
|
|
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)
|
rs140517685
|
0.00003
|
|
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)
|
rs398123634
|
0.00003
|
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
|
NM_001848.3(COL6A1):c.2468C>T (p.Thr823Met)
|
rs749442445
|
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_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys)
|
rs886043011
|
0.00003
|
|
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)
|
rs147716407
|
0.00003
|
|
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr)
|
rs771844518
|
0.00003
|
|
NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val)
|
rs373070436
|
0.00003
|
|
NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys)
|
rs568039462
|
0.00003
|
|
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)
|
rs763470078
|
0.00003
|
|
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)
|
rs781396484
|
0.00003
|
|
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)
|
rs775751831
|
0.00003
|
|
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln)
|
rs747093518
|
0.00003
|
|
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)
|
rs773161640
|
0.00003
|
|
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)
|
rs750842859
|
0.00003
|
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
|
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=)
|
rs150999832
|
0.00003
|
|
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met)
|
rs149731632
|
0.00003
|
|
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)
|
rs758550765
|
0.00003
|
|
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile)
|
rs7283272
|
0.00003
|
|
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)
|
rs748592288
|
0.00003
|
|
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys)
|
rs200709432
|
0.00003
|
|
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=)
|
rs377389081
|
0.00003
|
|
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp)
|
rs376880198
|
0.00003
|
|
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
|
rs780703127
|
0.00003
|
|
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
|
rs758073557
|
0.00003
|
|
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)
|
rs747184649
|
0.00003
|
|
NM_001849.4(COL6A2):c.950G>A (p.Arg317His)
|
rs373782637
|
0.00003
|
|
NM_001917.5(DAO):c.387-1G>A
|
rs746914446
|
0.00003
|
|
NM_001917.5(DAO):c.943G>A (p.Gly315Arg)
|
rs575170073
|
0.00003
|
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
|
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
|
rs868959487
|
0.00003
|
|
NM_001940.4(ATN1):c.2158C>T (p.Pro720Ser)
|
rs781828877
|
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_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
|
NM_002024.6(FMR1):c.1816C>T (p.Arg606Cys)
|
rs782778170
|
0.00003
|
|
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
|
rs1314159800
|
0.00003
|
|
NM_002101.5(GYPC):c.254A>T (p.Tyr85Phe)
|
rs143080607
|
0.00003
|
|
NM_002101.5(GYPC):c.262A>C (p.Lys88Gln)
|
rs200062204
|
0.00003
|
|
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)
|
rs369070016
|
0.00003
|
|
NM_002137.4(HNRNPA2B1):c.745G>A (p.Gly249Ser)
|
rs375157988
|
0.00003
|
|
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val)
|
rs139000973
|
0.00003
|
|
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
|
rs776158939
|
0.00003
|
|
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
|
rs141836800
|
0.00003
|
|
NM_002206.3(ITGA7):c.1040G>A (p.Arg347His)
|
rs775063840
|
0.00003
|
|
NM_002206.3(ITGA7):c.1816G>T (p.Ala606Ser)
|
rs753283257
|
0.00003
|
|
NM_002206.3(ITGA7):c.1969C>T (p.Arg657Trp)
|
rs528020122
|
0.00003
|
|
NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)
|
rs369291330
|
0.00003
|
|
NM_002206.3(ITGA7):c.2399G>A (p.Arg800His)
|
rs143929243
|
0.00003
|
|
NM_002206.3(ITGA7):c.428G>A (p.Arg143Gln)
|
rs537937026
|
0.00003
|
|
NM_002206.3(ITGA7):c.485G>A (p.Arg162His)
|
rs781445250
|
0.00003
|
|
NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)
|
rs747302062
|
0.00003
|
|
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)
|
rs201257292
|
0.00003
|
|
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg)
|
rs1389594811
|
0.00003
|
|
NM_002334.4(LRP4):c.4535C>G (p.Thr1512Arg)
|
rs768813159
|
0.00003
|
|
NM_002335.4(LRP5):c.3581G>A (p.Arg1194His)
|
rs201017887
|
0.00003
|
|
NM_002430.3(MN1):c.3238G>C (p.Gly1080Arg)
|
rs377232565
|
0.00003
|
|
NM_002465.4(MYBPC1):c.217G>A (p.Ala73Thr)
|
rs759342445
|
0.00003
|
|
NM_002470.4(MYH3):c.76G>A (p.Glu26Lys)
|
rs759121005
|
0.00003
|
|
NM_002471.4(MYH6):c.329C>T (p.Ala110Val)
|
rs149454728
|
0.00003
|
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
|
NM_002471.4(MYH6):c.5267A>G (p.Lys1756Arg)
|
rs746064687
|
0.00003
|
|
NM_002473.6(MYH9):c.3853G>A (p.Val1285Met)
|
rs770119352
|
0.00003
|
|
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser)
|
rs753350404
|
0.00003
|
|
NM_002576.5(PAK1):c.478-3C>A
|
rs781205906
|
0.00003
|
|
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
|
rs1179242925
|
0.00003
|
|
NM_002691.4(POLD1):c.2565-3C>G
|
rs772419397
|
0.00003
|
|
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
|
rs771508650
|
0.00003
|
|
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
|
rs986802785
|
0.00003
|
|
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)
|
rs1375814966
|
0.00003
|
|
NM_002976.4(SCN7A):c.2404C>T (p.Gln802Ter)
|
rs771210059
|
0.00003
|
|
NM_003038.5(SLC1A4):c.442C>T (p.Leu148Phe)
|
rs749090761
|
0.00003
|
|
NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter)
|
rs753244775
|
0.00003
|
|
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)
|
rs201331677
|
0.00003
|
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
0.00003
|
|
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)
|
rs377136485
|
0.00003
|
|
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)
|
rs745509632
|
0.00003
|
|
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)
|
rs778409451
|
0.00003
|
|
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
|
rs527731763
|
0.00003
|
|
NM_003126.4(SPTA1):c.1121G>A (p.Arg374Gln)
|
rs887993336
|
0.00003
|
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00003
|
|
NM_003126.4(SPTA1):c.1267G>A (p.Asp423Asn)
|
rs772560248
|
0.00003
|
|
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met)
|
rs147677656
|
0.00003
|
|
NM_003126.4(SPTA1):c.1398C>T (p.Asp466=)
|
rs763562631
|
0.00003
|
|
NM_003126.4(SPTA1):c.1409G>A (p.Arg470His)
|
rs370498187
|
0.00003
|
|
NM_003126.4(SPTA1):c.1419G>T (p.Glu473Asp)
|
rs979414861
|
0.00003
|
|
NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys)
|
rs781647129
|
0.00003
|
|
NM_003126.4(SPTA1):c.2831T>C (p.Phe944Ser)
|
rs377688677
|
0.00003
|
|
NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe)
|
rs201324641
|
0.00003
|
|
NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp)
|
rs570224404
|
0.00003
|
|
NM_003126.4(SPTA1):c.5238G>C (p.Gln1746His)
|
rs1426868165
|
0.00003
|
|
NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser)
|
rs182897201
|
0.00003
|
|
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His)
|
rs759075251
|
0.00003
|
|
NM_003172.4(SURF1):c.826G>A (p.Val276Met)
|
rs141561701
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00003
|
|
NM_003331.5(TYK2):c.1399G>A (p.Glu467Lys)
|
rs779259245
|
0.00003
|
|
NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)
|
rs201253044
|
0.00003
|
|
NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)
|
rs200820854
|
0.00003
|
|
NM_003470.3(USP7):c.3163G>A (p.Glu1055Lys)
|
rs371189235
|
0.00003
|
|
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg)
|
rs45552933
|
0.00003
|
|
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)
|
rs377147669
|
0.00003
|
|
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile)
|
rs756017412
|
0.00003
|
|
NM_003482.4(KMT2D):c.188T>C (p.Val63Ala)
|
rs886049488
|
0.00003
|
|
NM_003482.4(KMT2D):c.5504G>T (p.Arg1835Leu)
|
rs368134008
|
0.00003
|
|
NM_003482.4(KMT2D):c.8906C>T (p.Ser2969Leu)
|
rs762096305
|
0.00003
|
|
NM_003494.4(DYSF):c.46G>C (p.Asp16His)
|
rs140603487
|
0.00003
|
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
|
NM_003619.4(PRSS12):c.1837+1G>A
|
rs201470712
|
0.00003
|
|
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
|
rs745655716
|
0.00003
|
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
|
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu)
|
rs727504427
|
0.00003
|
|
NM_003673.4(TCAP):c.461G>A (p.Arg154His)
|
rs780544264
|
0.00003
|
|
NM_003681.5(PDXK):c.509G>A (p.Arg170Gln)
|
rs768145639
|
0.00003
|
|
NM_003730.6(RNASET2):c.705C>A (p.Ser235Arg)
|
rs199823417
|
0.00003
|
|
NM_003742.4(ABCB11):c.1846C>T (p.Arg616Cys)
|
rs369187042
|
0.00003
|
|
NM_003849.4(SUCLG1):c.844G>A (p.Val282Ile)
|
rs764916394
|
0.00003
|
|
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)
|
rs774986849
|
0.00003
|
|
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser)
|
rs553677309
|
0.00003
|
|
NM_003919.3(SGCE):c.1036G>A (p.Val346Met)
|
rs533652380
|
0.00003
|
|
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln)
|
rs148483382
|
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_003995.4(NPR2):c.952C>T (p.Arg318Trp)
|
rs764711038
|
0.00003
|
|
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)
|
rs762475657
|
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.4421G>C (p.Ser1474Thr)
|
rs398123956
|
0.00003
|
|
NM_004006.3(DMD):c.4563G>A (p.Met1521Ile)
|
rs138984555
|
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.6572G>A (p.Arg2191Gln)
|
rs756238158
|
0.00003
|
|
NM_004006.3(DMD):c.7722G>C (p.Gln2574His)
|
rs368164231
|
0.00003
|
|
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)
|
rs756160145
|
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_004006.3(DMD):c.9649T>C (p.Tyr3217His)
|
rs766981643
|
0.00003
|
|
NM_004086.3(COCH):c.193A>G (p.Ile65Val)
|
rs148102471
|
0.00003
|
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00003
|
|
NM_004168.4(SDHA):c.1794+3G>C
|
rs375883981
|
0.00003
|
|
NM_004181.5(UCHL1):c.569A>G (p.Glu190Gly)
|
rs1781118410
|
0.00003
|
|
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
|
rs1286123296
|
0.00003
|
|
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser)
|
rs374965803
|
0.00003
|
|
NM_004260.4(RECQL4):c.1726G>A (p.Val576Met)
|
rs570331496
|
0.00003
|
|
NM_004260.4(RECQL4):c.1940G>T (p.Arg647Leu)
|
rs372664774
|
0.00003
|
|
NM_004260.4(RECQL4):c.732A>C (p.Glu244Asp)
|
rs750451940
|
0.00003
|
|
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)
|
rs138186996
|
0.00003
|
|
NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)
|
rs903027246
|
0.00003
|
|
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser)
|
rs1031608025
|
0.00003
|
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
|
NM_004281.4(BAG3):c.854C>T (p.Thr285Met)
|
rs375650805
|
0.00003
|
|
NM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile)
|
rs748412702
|
0.00003
|
|
NM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln)
|
rs182084601
|
0.00003
|
|
NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn)
|
rs769732457
|
0.00003
|
|
NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp)
|
rs368388257
|
0.00003
|
|
NM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys)
|
rs1027940672
|
0.00003
|
|
NM_004341.5(CAD):c.6365G>A (p.Arg2122His)
|
rs553324190
|
0.00003
|
|
NM_004364.5(CEBPA):c.252C>G (p.His84Gln)
|
rs878854700
|
0.00003
|
|
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met)
|
rs755178814
|
0.00003
|
|
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser)
|
rs375285237
|
0.00003
|
|
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)
|
rs762162177
|
0.00003
|
|
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys)
|
rs368161217
|
0.00003
|
|
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)
|
rs748641277
|
0.00003
|
|
NM_004369.4(COL6A3):c.249C>T (p.Phe83=)
|
rs758434537
|
0.00003
|
|
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu)
|
rs774161895
|
0.00003
|
|
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)
|
rs762584015
|
0.00003
|
|
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)
|
rs576798969
|
0.00003
|
|
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu)
|
rs371991808
|
0.00003
|
|
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
|
rs374447921
|
0.00003
|
|
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr)
|
rs761799119
|
0.00003
|
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
|
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu)
|
rs752785838
|
0.00003
|
|
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys)
|
rs886044508
|
0.00003
|
|
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
|
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)
|
rs141586922
|
0.00003
|
|
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)
|
rs375640580
|
0.00003
|
|
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=)
|
rs749750613
|
0.00003
|
|
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)
|
rs115116398
|
0.00003
|
|
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile)
|
rs569907876
|
0.00003
|
|
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)
|
rs779335085
|
0.00003
|
|
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val)
|
rs751532649
|
0.00003
|
|
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)
|
rs557120711
|
0.00003
|
|
NM_004369.4(COL6A3):c.8939C>T (p.Thr2980Ile)
|
rs1286632582
|
0.00003
|
|
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)
|
rs757252832
|
0.00003
|
|
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)
|
rs370684538
|
0.00003
|
|
NM_004370.6(COL12A1):c.2287G>A (p.Gly763Arg)
|
rs773836889
|
0.00003
|
|
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
|
rs771124556
|
0.00003
|
|
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)
|
rs201662983
|
0.00003
|
|
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)
|
rs201382636
|
0.00003
|
|
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)
|
rs768127770
|
0.00003
|
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
|
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
|
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)
|
rs377553583
|
0.00003
|
|
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)
|
rs978290681
|
0.00003
|
|
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
|
rs549336635
|
0.00003
|
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
|
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)
|
rs751419788
|
0.00003
|
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
|
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)
|
rs373006852
|
0.00003
|
|
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)
|
rs548889128
|
0.00003
|
|
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
|
rs760315104
|
0.00003
|
|
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)
|
rs565471668
|
0.00003
|
|
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
|
rs542263318
|
0.00003
|
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
|
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
|
rs779479987
|
0.00003
|
|
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
|
rs549405420
|
0.00003
|
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00003
|
|
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
|
rs973479623
|
0.00003
|
|
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln)
|
rs780793711
|
0.00003
|
|
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln)
|
rs376931365
|
0.00003
|
|
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met)
|
rs758254304
|
0.00003
|
|
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg)
|
rs749962207
|
0.00003
|
|
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
|
rs545200027
|
0.00003
|
|
NM_004393.6(DAG1):c.634C>A (p.His212Asn)
|
rs146574353
|
0.00003
|
|
NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu)
|
rs1403210034
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004444.5(EPHB4):c.1603C>T (p.Arg535Trp)
|
rs778356891
|
0.00003
|
|
NM_004447.6(EPS8):c.205-8A>G
|
rs180899529
|
0.00003
|
|
NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp)
|
rs201426875
|
0.00003
|
|
NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln)
|
rs750940208
|
0.00003
|
|
NM_004519.4(KCNQ3):c.1445C>T (p.Ala482Val)
|
rs372086771
|
0.00003
|
|
NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)
|
rs757584140
|
0.00003
|
|
NM_004522.3(KIF5C):c.2618C>T (p.Ala873Val)
|
rs377483994
|
0.00003
|
|
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)
|
rs863224110
|
0.00003
|
|
NM_004606.5(TAF1):c.2459A>G (p.Lys820Arg)
|
rs1041874871
|
0.00003
|
|
NM_004618.5(TOP3A):c.2408C>T (p.Thr803Met)
|
rs774009141
|
0.00003
|
|
NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg)
|
rs368523939
|
0.00003
|
|
NM_004667.6(HERC2):c.3143C>A (p.Ser1048Tyr)
|
rs139087469
|
0.00003
|
|
NM_004667.6(HERC2):c.545C>T (p.Ser182Phe)
|
rs368816548
|
0.00003
|
|
NM_004667.6(HERC2):c.8451+8C>A
|
rs770748385
|
0.00003
|
|
NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln)
|
rs565296810
|
0.00003
|
|
NM_004752.4(GCM2):c.442G>A (p.Ala148Thr)
|
rs368814748
|
0.00003
|
|
NM_004817.4(TJP2):c.1319G>C (p.Ser440Thr)
|
rs201118051
|
0.00003
|
|
NM_004830.4(MED23):c.3724G>A (p.Glu1242Lys)
|
rs148431716
|
0.00003
|
|
NM_004933.3(CDH15):c.2227G>A (p.Gly743Ser)
|
rs779382370
|
0.00003
|
|
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)
|
rs201007223
|
0.00003
|
|
NM_004998.4(MYO1E):c.1080C>T (p.His360=)
|
rs372487333
|
0.00003
|
|
NM_005029.4(PITX3):c.181A>C (p.Lys61Gln)
|
rs568555694
|
0.00003
|
|
NM_005035.4(POLRMT):c.789G>T (p.Met263Ile)
|
rs779962515
|
0.00003
|
|
NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys)
|
rs1396216642
|
0.00003
|
|
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln)
|
rs192040640
|
0.00003
|
|
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)
|
rs768059942
|
0.00003
|
|
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)
|
rs145197671
|
0.00003
|
|
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)
|
rs543224303
|
0.00003
|
|
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)
|
rs545915312
|
0.00003
|
|
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)
|
rs771749514
|
0.00003
|
|
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)
|
rs778371396
|
0.00003
|
|
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)
|
rs760068830
|
0.00003
|
|
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys)
|
rs770645288
|
0.00003
|
|
NM_005101.4(ISG15):c.442G>A (p.Val148Met)
|
rs202194159
|
0.00003
|
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00003
|
|
NM_005121.3(MED13):c.1489C>G (p.Leu497Val)
|
rs1180603287
|
0.00003
|
|
NM_005186.4(CAPN1):c.949G>A (p.Val317Met)
|
rs575591830
|
0.00003
|
|
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)
|
rs1369884955
|
0.00003
|
|
NM_005199.5(CHRNG):c.1496G>A (p.Arg499Gln)
|
rs373096766
|
0.00003
|
|
NM_005199.5(CHRNG):c.224A>G (p.Asn75Ser)
|
rs202052789
|
0.00003
|
|
NM_005235.3(ERBB4):c.472G>A (p.Ala158Thr)
|
rs375361752
|
0.00003
|
|
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
|
rs777006157
|
0.00003
|
|
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
|
rs762543560
|
0.00003
|
|
NM_005379.4(MYO1A):c.58G>A (p.Val20Met)
|
rs779683492
|
0.00003
|
|
NM_005431.2(XRCC2):c.119A>G (p.His40Arg)
|
rs777753452
|
0.00003
|
|
NM_005448.2(BMP15):c.731G>A (p.Arg244Gln)
|
rs145017754
|
0.00003
|
|
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp)
|
rs768482972
|
0.00003
|
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
|
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)
|
rs770658894
|
0.00003
|
|
NM_005505.5(SCARB1):c.251C>T (p.Pro84Leu)
|
rs1341182786
|
0.00003
|
|
NM_005515.4(MNX1):c.1136C>T (p.Ala379Val)
|
rs780826565
|
0.00003
|
|
NM_005529.7(HSPG2):c.10028C>T (p.Ala3343Val)
|
rs527917900
|
0.00003
|
|
NM_005529.7(HSPG2):c.10042G>A (p.Glu3348Lys)
|
rs530138013
|
0.00003
|
|
NM_005529.7(HSPG2):c.11546G>C (p.Arg3849Pro)
|
rs144525987
|
0.00003
|
|
NM_005529.7(HSPG2):c.12194C>T (p.Pro4065Leu)
|
rs763103278
|
0.00003
|
|
NM_005529.7(HSPG2):c.12370G>A (p.Glu4124Lys)
|
rs368254139
|
0.00003
|
|
NM_005529.7(HSPG2):c.1237C>T (p.Arg413Trp)
|
rs745376918
|
0.00003
|
|
NM_005529.7(HSPG2):c.12521G>A (p.Arg4174His)
|
rs377610859
|
0.00003
|
|
NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser)
|
rs567999404
|
0.00003
|
|
NM_005529.7(HSPG2):c.13037G>A (p.Gly4346Asp)
|
rs748956430
|
0.00003
|
|
NM_005529.7(HSPG2):c.1642G>A (p.Asp548Asn)
|
rs775692885
|
0.00003
|
|
NM_005529.7(HSPG2):c.2360C>T (p.Thr787Met)
|
rs758631172
|
0.00003
|
|
NM_005529.7(HSPG2):c.2879G>A (p.Ser960Asn)
|
rs768568677
|
0.00003
|
|
NM_005529.7(HSPG2):c.3404C>T (p.Pro1135Leu)
|
rs746636903
|
0.00003
|
|
NM_005529.7(HSPG2):c.5188G>A (p.Glu1730Lys)
|
rs948765391
|
0.00003
|
|
NM_005529.7(HSPG2):c.6152C>T (p.Pro2051Leu)
|
rs201057646
|
0.00003
|
|
NM_005529.7(HSPG2):c.6487G>A (p.Val2163Met)
|
rs777503522
|
0.00003
|
|
NM_005529.7(HSPG2):c.6772G>A (p.Glu2258Lys)
|
rs770242301
|
0.00003
|
|
NM_005529.7(HSPG2):c.7319G>A (p.Arg2440Gln)
|
rs779169378
|
0.00003
|
|
NM_005529.7(HSPG2):c.7324G>A (p.Glu2442Lys)
|
rs370492823
|
0.00003
|
|
NM_005529.7(HSPG2):c.7439G>A (p.Arg2480Gln)
|
rs773374399
|
0.00003
|
|
NM_005529.7(HSPG2):c.7452T>A (p.His2484Gln)
|
rs771878584
|
0.00003
|
|
NM_005529.7(HSPG2):c.7504G>A (p.Val2502Met)
|
rs1288744630
|
0.00003
|
|
NM_005529.7(HSPG2):c.7757G>A (p.Arg2586Gln)
|
rs767128656
|
0.00003
|
|
NM_005529.7(HSPG2):c.7804G>A (p.Val2602Ile)
|
rs763895125
|
0.00003
|
|
NM_005529.7(HSPG2):c.8380C>T (p.Arg2794Trp)
|
rs755487807
|
0.00003
|
|
NM_005529.7(HSPG2):c.8489G>A (p.Arg2830His)
|
rs745930896
|
0.00003
|
|
NM_005529.7(HSPG2):c.8494G>A (p.Glu2832Lys)
|
rs757360257
|
0.00003
|
|
NM_005529.7(HSPG2):c.9421C>T (p.Arg3141Cys)
|
rs560125766
|
0.00003
|
|
NM_005529.7(HSPG2):c.9422G>A (p.Arg3141His)
|
rs747660804
|
0.00003
|
|
NM_005529.7(HSPG2):c.9859G>A (p.Ala3287Thr)
|
rs149276709
|
0.00003
|
|
NM_005548.3(KARS1):c.1259G>A (p.Arg420His)
|
rs201574004
|
0.00003
|
|
NM_005559.4(LAMA1):c.2879C>T (p.Ser960Leu)
|
rs745925162
|
0.00003
|
|
NM_005559.4(LAMA1):c.5171C>A (p.Ala1724Asp)
|
rs746164036
|
0.00003
|
|
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu)
|
rs764453720
|
0.00003
|
|
NM_005591.4(MRE11):c.476T>C (p.Val159Ala)
|
rs140130291
|
0.00003
|
|
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
|
rs760483928
|
0.00003
|
|
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val)
|
rs370291854
|
0.00003
|
|
NM_005609.4(PYGM):c.1433A>G (p.His478Arg)
|
rs758131128
|
0.00003
|
|
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
|
rs775556000
|
0.00003
|
|
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
|
rs915786151
|
0.00003
|
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
|
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys)
|
rs559363120
|
0.00003
|
|
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg)
|
rs771895781
|
0.00003
|
|
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
|
rs200118962
|
0.00003
|
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00003
|
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
|
NM_005609.4(PYGM):c.974C>T (p.Thr325Met)
|
rs536561941
|
0.00003
|
|
NM_005618.4(DLL1):c.1099G>A (p.Ala367Thr)
|
rs200985462
|
0.00003
|
|
NM_005618.4(DLL1):c.1642G>A (p.Val548Met)
|
rs568359643
|
0.00003
|
|
NM_005634.3(SOX3):c.966C>G (p.Asn322Lys)
|
rs1039932116
|
0.00003
|
|
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)
|
rs368932156
|
0.00003
|
|
NM_005765.3(ATP6AP2):c.980A>G (p.Asn327Ser)
|
rs183052805
|
0.00003
|
|
NM_005850.5(SF3B4):c.863A>G (p.His288Arg)
|
rs782151742
|
0.00003
|
|
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
|
rs762000831
|
0.00003
|
|
NM_005886.3(KATNB1):c.100C>T (p.Arg34Trp)
|
rs371850267
|
0.00003
|
|
NM_005915.6(MCM6):c.1366G>A (p.Val456Met)
|
rs191517067
|
0.00003
|
|
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)
|
rs149265761
|
0.00003
|
|
NM_005993.5(TBCD):c.1327G>A (p.Val443Met)
|
rs541763206
|
0.00003
|
|
NM_005993.5(TBCD):c.1927G>A (p.Val643Ile)
|
rs199679092
|
0.00003
|
|
NM_005993.5(TBCD):c.2770G>A (p.Val924Met)
|
rs374323372
|
0.00003
|
|
NM_005993.5(TBCD):c.2991+8G>A
|
rs370259014
|
0.00003
|
|
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala)
|
rs377102310
|
0.00003
|
|
NM_006015.6(ARID1A):c.320C>T (p.Ala107Val)
|
rs1473846356
|
0.00003
|
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
|
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
|
rs776671533
|
0.00003
|
|
NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)
|
rs570441759
|
0.00003
|
|
NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln)
|
rs565272443
|
0.00003
|
|
NM_006231.4(POLE):c.274A>C (p.Ser92Arg)
|
rs758382516
|
0.00003
|
|
NM_006267.5(RANBP2):c.2954C>T (p.Pro985Leu)
|
rs368547122
|
0.00003
|
|
NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val)
|
rs368398572
|
0.00003
|
|
NM_006279.5(ST3GAL3):c.176G>A (p.Arg59Gln)
|
rs764808181
|
0.00003
|
|
NM_006363.6(SEC23B):c.103G>A (p.Val35Ile)
|
rs147576961
|
0.00003
|
|
NM_006363.6(SEC23B):c.1901C>T (p.Pro634Leu)
|
rs372083109
|
0.00003
|
|
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)
|
rs778348206
|
0.00003
|
|
NM_006459.4(ERLIN1):c.1018G>A (p.Val340Ile)
|
rs373292585
|
0.00003
|
|
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)
|
rs376454715
|
0.00003
|
|
NM_006496.4(GNAI3):c.145A>G (p.Ile49Val)
|
rs762653380
|
0.00003
|
|
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)
|
rs189022924
|
0.00003
|
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00003
|
|
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser)
|
rs764390927
|
0.00003
|
|
NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)
|
rs201185594
|
0.00003
|
|
NM_006662.3(SRCAP):c.7409C>T (p.Ala2470Val)
|
rs752848419
|
0.00003
|
|
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)
|
rs138111804
|
0.00003
|
|
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)
|
rs753885399
|
0.00003
|
|
NM_006767.4(LZTR1):c.2063G>A (p.Arg688His)
|
rs535779363
|
0.00003
|
|
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile)
|
rs376331457
|
0.00003
|
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
|
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)
|
rs140135928
|
0.00003
|
|
NM_006922.4(SCN3A):c.2204A>G (p.Asn735Ser)
|
rs1169251444
|
0.00003
|
|
NM_006946.4(SPTBN2):c.4715G>A (p.Arg1572His)
|
rs376440439
|
0.00003
|
|
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)
|
rs775007929
|
0.00003
|
|
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)
|
rs759790522
|
0.00003
|
|
NM_007098.4(CLTCL1):c.3595C>T (p.Gln1199Ter)
|
rs782638983
|
0.00003
|
|
NM_007118.4(TRIO):c.7478C>T (p.Pro2493Leu)
|
rs766976574
|
0.00003
|
|
NM_007118.4(TRIO):c.8560G>A (p.Gly2854Ser)
|
rs778314493
|
0.00003
|
|
NM_007137.5(ZNF81):c.949C>T (p.Leu317Phe)
|
rs2519841841
|
0.00003
|
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
|
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)
|
rs138496419
|
0.00003
|
|
NM_007286.6(SYNPO):c.1687C>T (p.Pro563Ser)
|
rs767231888
|
0.00003
|
|
NM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln)
|
rs757588471
|
0.00003
|
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
0.00003
|
|
NM_012210.4(TRIM32):c.1031G>A (p.Arg344Gln)
|
rs778138359
|
0.00003
|
|
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)
|
rs754554333
|
0.00003
|
|
NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala)
|
rs781475334
|
0.00003
|
|
NM_012210.4(TRIM32):c.1384G>A (p.Val462Met)
|
rs772922696
|
0.00003
|
|
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)
|
rs752860146
|
0.00003
|
|
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)
|
rs753866301
|
0.00003
|
|
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg)
|
rs772598451
|
0.00003
|
|
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln)
|
rs754128910
|
0.00003
|
|
NM_012330.4(KAT6B):c.5188G>A (p.Gly1730Arg)
|
rs756953458
|
0.00003
|
|
NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys)
|
rs781140128
|
0.00003
|
|
NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)
|
rs747911603
|
0.00003
|
|
NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu)
|
rs782205113
|
0.00003
|
|
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg)
|
rs745417690
|
0.00003
|
|
NM_013382.7(POMT2):c.1384A>G (p.Lys462Glu)
|
rs17852978
|
0.00003
|
|
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val)
|
rs758678348
|
0.00003
|
|
NM_014008.5(CCDC22):c.559C>T (p.Pro187Ser)
|
rs1427330344
|
0.00003
|
|
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)
|
rs1057523761
|
0.00003
|
|
NM_014049.5(ACAD9):c.793A>G (p.Ile265Val)
|
rs542088761
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)
|
rs587780320
|
0.00003
|
|
NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn)
|
rs1366338930
|
0.00003
|
|
NM_014159.7(SETD2):c.911A>C (p.Lys304Thr)
|
rs534195879
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn)
|
rs370686613
|
0.00003
|
|
NM_014271.4(IL1RAPL1):c.82G>A (p.Ala28Thr)
|
rs377167082
|
0.00003
|
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00003
|
|
NM_014491.4(FOXP2):c.1276G>T (p.Val426Leu)
|
rs761262072
|
0.00003
|
|
NM_014516.4(CNOT3):c.388-6C>T
|
rs746132992
|
0.00003
|
|
NM_014611.3(MDN1):c.9185A>G (p.Asn3062Ser)
|
rs146744786
|
0.00003
|
|
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)
|
rs587777712
|
0.00003
|
|
NM_014712.3(SETD1A):c.2713G>A (p.Glu905Lys)
|
rs773925969
|
0.00003
|
|
NM_014712.3(SETD1A):c.3177G>C (p.Glu1059Asp)
|
rs759409704
|
0.00003
|
|
NM_014727.3(KMT2B):c.1886C>T (p.Pro629Leu)
|
rs548700728
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met)
|
rs368416368
|
0.00003
|
|
NM_014915.3(ANKRD26):c.1362A>C (p.Glu454Asp)
|
rs201540032
|
0.00003
|
|
NM_014915.3(ANKRD26):c.2420C>T (p.Thr807Met)
|
rs955032293
|
0.00003
|
|
NM_015021.3(ZNF292):c.5149G>A (p.Ala1717Thr)
|
rs994857907
|
0.00003
|
|
NM_015021.3(ZNF292):c.7900A>G (p.Thr2634Ala)
|
rs566434477
|
0.00003
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
rs998278975
|
0.00003
|
|
NM_015046.7(SETX):c.7819G>A (p.Glu2607Lys)
|
rs200969620
|
0.00003
|
|
NM_015057.5(MYCBP2):c.3G>C (p.Met1Ile)
|
rs949085474
|
0.00003
|
|
NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln)
|
rs537298438
|
0.00003
|
|
NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe)
|
rs768284272
|
0.00003
|
|
NM_015175.3(NBEAL2):c.6753G>A (p.Pro2251=)
|
rs375824892
|
0.00003
|
|
NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met)
|
rs762216794
|
0.00003
|
|
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
|
rs777944750
|
0.00003
|
|
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
|
rs772309601
|
0.00003
|
|
NM_015267.4(CUX2):c.2531A>G (p.Asp844Gly)
|
rs540491261
|
0.00003
|
|
NM_015267.4(CUX2):c.935G>A (p.Arg312Gln)
|
rs368058847
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00003
|
|
NM_015275.3(WASHC4):c.1643A>G (p.Asn548Ser)
|
rs759223624
|
0.00003
|
|
NM_015295.3(SMCHD1):c.1186C>A (p.Gln396Lys)
|
rs377471712
|
0.00003
|
|
NM_015295.3(SMCHD1):c.1987A>G (p.Thr663Ala)
|
rs371084711
|
0.00003
|
|
NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile)
|
rs183236583
|
0.00003
|
|
NM_015295.3(SMCHD1):c.5281C>T (p.Arg1761Cys)
|
rs370977174
|
0.00003
|
|
NM_015295.3(SMCHD1):c.677G>A (p.Arg226His)
|
rs1012435079
|
0.00003
|
|
NM_015330.6(SPECC1L):c.2801C>T (p.Ala934Val)
|
rs201552465
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.1342C>T (p.Leu448Phe)
|
rs111463514
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.1526A>G (p.Tyr509Cys)
|
rs767673365
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser)
|
rs199505106
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.4348G>T (p.Val1450Phe)
|
rs141378243
|
0.00003
|
|
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)
|
rs769010867
|
0.00003
|
|
NM_015386.3(COG4):c.1310A>G (p.Asn437Ser)
|
rs753030937
|
0.00003
|
|
NM_015450.3(POT1):c.1612C>G (p.Leu538Val)
|
rs768610116
|
0.00003
|
|
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter)
|
rs868028669
|
0.00003
|
|
NM_015466.4(PTPN23):c.4034G>A (p.Arg1345His)
|
rs560276745
|
0.00003
|
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00003
|
|
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys)
|
rs202044480
|
0.00003
|
|
NM_015512.5(DNAH1):c.4222A>G (p.Ser1408Gly)
|
rs768030941
|
0.00003
|
|
NM_015512.5(DNAH1):c.8681A>G (p.Lys2894Arg)
|
rs192608206
|
0.00003
|
|
NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln)
|
rs778196366
|
0.00003
|
|
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)
|
rs749784668
|
0.00003
|
|
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn)
|
rs375448136
|
0.00003
|
|
NM_015693.4(INTU):c.2212C>T (p.Arg738Trp)
|
rs774939551
|
0.00003
|
|
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)
|
rs267607025
|
0.00003
|
|
NM_015915.5(ATL1):c.163C>T (p.Arg55Trp)
|
rs149901427
|
0.00003
|
|
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln)
|
rs769195904
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)
|
rs753387074
|
0.00003
|
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
|
NM_016302.4(CRBN):c.724C>T (p.Arg242Cys)
|
rs541404259
|
0.00003
|
|
NM_016373.4(WWOX):c.563G>A (p.Arg188His)
|
rs771163284
|
0.00003
|
|
NM_016628.5(WAC):c.140G>A (p.Arg47Gln)
|
rs374821442
|
0.00003
|
|
NM_017520.4(MPHOSPH8):c.1852C>T (p.Arg618Ter)
|
rs1457152115
|
0.00003
|
|
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys)
|
rs781514305
|
0.00003
|
|
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro)
|
rs765135888
|
0.00003
|
|
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
|
rs528532960
|
0.00003
|
|
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)
|
rs750232956
|
0.00003
|
|
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His)
|
rs777282924
|
0.00003
|
|
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe)
|
rs201044964
|
0.00003
|
|
NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)
|
rs148692707
|
0.00003
|
|
NM_017551.3(GRID1):c.2636G>A (p.Arg879His)
|
rs536785868
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=)
|
rs373787791
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)
|
rs200232299
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00003
|
|
NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)
|
rs758460246
|
0.00003
|
|
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)
|
rs532037297
|
0.00003
|
|
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His)
|
rs576457697
|
0.00003
|
|
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met)
|
rs769180238
|
0.00003
|
|
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln)
|
rs778115320
|
0.00003
|
|
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro)
|
rs200227264
|
0.00003
|
|
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)
|
rs375420073
|
0.00003
|
|
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp)
|
rs34058684
|
0.00003
|
|
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu)
|
rs369970994
|
0.00003
|
|
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter)
|
rs749688361
|
0.00003
|
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
|
NM_017777.4(MKS1):c.461T>C (p.Phe154Ser)
|
rs753579811
|
0.00003
|
|
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)
|
rs779024959
|
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_018100.4(EFHC1):c.352C>T (p.Arg118Cys)
|
rs764096785
|
0.00003
|
|
NM_018161.5(NADSYN1):c.-690G>A
|
rs961021085
|
0.00003
|
|
NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg)
|
rs373555596
|
0.00003
|
|
NM_018263.6(ASXL2):c.3847C>T (p.Arg1283Cys)
|
rs377609636
|
0.00003
|
|
NM_018451.5(CPAP):c.1461C>G (p.Asp487Glu)
|
rs201262549
|
0.00003
|
|
NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)
|
rs549227957
|
0.00003
|
|
NM_018489.3(ASH1L):c.3905G>A (p.Arg1302Gln)
|
rs779608311
|
0.00003
|
|
NM_018489.3(ASH1L):c.6224-3A>T
|
rs761205544
|
0.00003
|
|
NM_018489.3(ASH1L):c.7046A>G (p.Asn2349Ser)
|
rs373014963
|
0.00003
|
|
NM_018668.5(VPS33B):c.1754G>A (p.Arg585Gln)
|
rs147814686
|
0.00003
|
|
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
|
rs868354713
|
0.00003
|
|
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys)
|
rs757346695
|
0.00003
|
|
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser)
|
rs758675030
|
0.00003
|
|
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)
|
rs374819399
|
0.00003
|
|
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
|
rs551391397
|
0.00003
|
|
NM_018896.5(CACNA1G):c.3710G>A (p.Arg1237His)
|
rs368748594
|
0.00003
|
|
NM_018968.4(SNTG2):c.1438C>T (p.Arg480Ter)
|
rs1190267356
|
0.00003
|
|
NM_018979.4(WNK1):c.5731G>A (p.Gly1911Ser)
|
rs766411372
|
0.00003
|
|
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
|
rs758454311
|
0.00003
|
|
NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)
|
rs777630733
|
0.00003
|
|
NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)
|
rs745827493
|
0.00003
|
|
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
|
rs373819727
|
0.00003
|
|
NM_019108.4(SMG9):c.109C>T (p.Arg37Trp)
|
rs199860409
|
0.00003
|
|
NM_019844.4(SLCO1B3):c.1685T>C (p.Ile562Thr)
|
rs764807968
|
0.00003
|
|
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
|
rs145350362
|
0.00003
|
|
NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)
|
rs202092389
|
0.00003
|
|
NM_020361.5(CPA6):c.1090G>A (p.Val364Ile)
|
rs754011349
|
0.00003
|
|
NM_020376.4(PNPLA2):c.542C>T (p.Thr181Ile)
|
rs971753392
|
0.00003
|
|
NM_020376.4(PNPLA2):c.655C>T (p.Leu219Phe)
|
rs140612115
|
0.00003
|
|
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn)
|
rs757430438
|
0.00003
|
|
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)
|
rs760074789
|
0.00003
|
|
NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)
|
rs757670739
|
0.00003
|
|
NM_020451.3(SELENON):c.1339G>A (p.Val447Met)
|
rs746942226
|
0.00003
|
|
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val)
|
rs202167521
|
0.00003
|
|
NM_020451.3(SELENON):c.545G>A (p.Arg182His)
|
rs200224030
|
0.00003
|
|
NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)
|
rs369911425
|
0.00003
|
|
NM_020461.4(TUBGCP6):c.2791C>T (p.Pro931Ser)
|
rs538912634
|
0.00003
|
|
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser)
|
rs201553605
|
0.00003
|
|
NM_020738.4(KIDINS220):c.3242C>T (p.Pro1081Leu)
|
rs373415558
|
0.00003
|
|
NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)
|
rs774009946
|
0.00003
|
|
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu)
|
rs372818428
|
0.00003
|
|
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)
|
rs137853116
|
0.00003
|
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00003
|
|
NM_020843.4(SCAPER):c.1382A>T (p.Asp461Val)
|
rs909818165
|
0.00003
|
|
NM_020928.2(ZSWIM6):c.605A>G (p.Glu202Gly)
|
rs1402248371
|
0.00003
|
|
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)
|
rs562098384
|
0.00003
|
|
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp)
|
rs750664406
|
0.00003
|
|
NM_020971.3(SPTBN4):c.64G>A (p.Ala22Thr)
|
rs548831212
|
0.00003
|
|
NM_021076.4(NEFH):c.764T>C (p.Met255Thr)
|
rs1439460449
|
0.00003
|
|
NM_021083.4(XK):c.404C>T (p.Ala135Val)
|
rs782079646
|
0.00003
|
|
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)
|
rs370292995
|
0.00003
|
|
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu)
|
rs774551478
|
0.00003
|
|
NM_021100.5(NFS1):c.948+1G>T
|
rs774266655
|
0.00003
|
|
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu)
|
rs115358347
|
0.00003
|
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
|
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr)
|
rs199693962
|
0.00003
|
|
NM_021942.6(TRAPPC11):c.2593G>A (p.Val865Ile)
|
rs776631490
|
0.00003
|
|
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val)
|
rs768253464
|
0.00003
|
|
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser)
|
rs370840899
|
0.00003
|
|
NM_022051.3(EGLN1):c.832G>A (p.Asp278Asn)
|
rs371536347
|
0.00003
|
|
NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp)
|
rs748390268
|
0.00003
|
|
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys)
|
rs191839015
|
0.00003
|
|
NM_022173.4(TIA1):c.1002G>A (p.Met334Ile)
|
rs747006488
|
0.00003
|
|
NM_022173.4(TIA1):c.770A>T (p.Asn257Ile)
|
rs765028674
|
0.00003
|
|
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)
|
rs200396635
|
0.00003
|
|
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln)
|
rs149599171
|
0.00003
|
|
NM_022436.3(ABCG5):c.566G>C (p.Ser189Thr)
|
rs201572746
|
0.00003
|
|
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
|
rs895337448
|
0.00003
|
|
NM_022436.3(ABCG5):c.833C>T (p.Ala278Val)
|
rs566982836
|
0.00003
|
|
NM_022437.3(ABCG8):c.-21G>A
|
rs1054093595
|
0.00003
|
|
NM_022437.3(ABCG8):c.349G>A (p.Val117Met)
|
rs994594128
|
0.00003
|
|
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
|
rs375241132
|
0.00003
|
|
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
|
rs201261974
|
0.00003
|
|
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
|
rs371005800
|
0.00003
|
|
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala)
|
rs145709743
|
0.00003
|
|
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
|
rs747120540
|
0.00003
|
|
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)
|
rs762096939
|
0.00003
|
|
NM_023110.3(FGFR1):c.1163C>T (p.Ser388Phe)
|
rs370205081
|
0.00003
|
|
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)
|
rs74315319
|
0.00003
|
|
NM_024301.5(FKRP):c.1171G>A (p.Gly391Ser)
|
rs775201067
|
0.00003
|
|
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu)
|
rs886044542
|
0.00003
|
|
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)
|
rs369666163
|
0.00003
|
|
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro)
|
rs886042998
|
0.00003
|
|
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)
|
rs1318966349
|
0.00003
|
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00003
|
|
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
|
rs764901131
|
0.00003
|
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00003
|
|
NM_024652.6(LRRK1):c.1397C>T (p.Pro466Leu)
|
rs371606687
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys)
|
rs184586093
|
0.00003
|
|
NM_025074.7(FRAS1):c.2827G>A (p.Ala943Thr)
|
rs763104754
|
0.00003
|
|
NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu)
|
rs369953738
|
0.00003
|
|
NM_025077.4(TOE1):c.940C>G (p.Gln314Glu)
|
rs555185290
|
0.00003
|
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
|
NM_025137.4(SPG11):c.3146-6T>G
|
rs777849932
|
0.00003
|
|
NM_025137.4(SPG11):c.5792T>A (p.Ile1931Asn)
|
rs762429227
|
0.00003
|
|
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
|
rs774987214
|
0.00003
|
|
NM_025243.4(SLC19A3):c.679G>A (p.Gly227Ser)
|
rs987409474
|
0.00003
|
|
NM_030632.3(ASXL3):c.1768A>G (p.Ile590Val)
|
rs1186502689
|
0.00003
|
|
NM_030632.3(ASXL3):c.4265C>A (p.Thr1422Lys)
|
rs532519039
|
0.00003
|
|
NM_030761.5(WNT4):c.938G>A (p.Arg313His)
|
rs753310272
|
0.00003
|
|
NM_031157.4(HNRNPA1):c.1027G>A (p.Gly343Ser)
|
rs369321855
|
0.00003
|
|
NM_031157.4(HNRNPA1):c.873C>G (p.Asn291Lys)
|
rs374303458
|
0.00003
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032141.4(NSRP1):c.981C>G (p.Asp327Glu)
|
rs561206034
|
0.00003
|
|
NM_032153.6(ZIC4):c.34C>T (p.Arg12Ter)
|
rs201698839
|
0.00003
|
|
NM_032237.5(POMK):c.715G>A (p.Gly239Arg)
|
rs35104071
|
0.00003
|
|
NM_032271.3(TRAF7):c.584C>T (p.Ala195Val)
|
rs761486543
|
0.00003
|
|
NM_032380.5(GFM2):c.431-3T>C
|
rs369071633
|
0.00003
|
|
NM_032382.5(COG8):c.980T>G (p.Leu327Arg)
|
rs533152141
|
0.00003
|
|
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter)
|
rs757546009
|
0.00003
|
|
NM_032551.5(KISS1R):c.47C>T (p.Pro16Leu)
|
rs756986700
|
0.00003
|
|
NM_032578.4(MYPN):c.1013G>A (p.Arg338His)
|
rs149852773
|
0.00003
|
|
NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)
|
rs535795936
|
0.00003
|
|
NM_032608.7(MYO18B):c.1225C>T (p.Arg409Trp)
|
rs753303836
|
0.00003
|
|
NM_032608.7(MYO18B):c.2503G>A (p.Ala835Thr)
|
rs755534991
|
0.00003
|
|
NM_032608.7(MYO18B):c.3166C>T (p.Arg1056Cys)
|
rs552342374
|
0.00003
|
|
NM_032608.7(MYO18B):c.6223C>T (p.Arg2075Trp)
|
rs565221932
|
0.00003
|
|
NM_032816.5(CEP89):c.2058C>G (p.Tyr686Ter)
|
rs200051100
|
0.00003
|
|
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)
|
rs752666494
|
0.00003
|
|
NM_033225.6(CSMD1):c.1916C>T (p.Ala639Val)
|
rs183309351
|
0.00003
|
|
NM_033225.6(CSMD1):c.5668C>G (p.Leu1890Val)
|
rs758045572
|
0.00003
|
|
NM_033225.6(CSMD1):c.6029A>G (p.Tyr2010Cys)
|
rs763590589
|
0.00003
|
|
NM_033337.3(CAV3):c.109G>C (p.Val37Leu)
|
rs374523166
|
0.00003
|
|
NM_033337.3(CAV3):c.433G>A (p.Val145Met)
|
rs142475018
|
0.00003
|
|
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu)
|
rs767155202
|
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_053025.4(MYLK):c.559C>T (p.Arg187Trp)
|
rs372482276
|
0.00003
|
|
NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys)
|
rs1286507533
|
0.00003
|
|
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)
|
rs770053224
|
0.00003
|
|
NM_058246.4(DNAJB6):c.857C>T (p.Pro286Leu)
|
rs886044476
|
0.00003
|
|
NM_080476.5(PIGU):c.530-3C>A
|
rs774756060
|
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_080916.3(DGUOK):c.52A>G (p.Met18Val)
|
rs1005365646
|
0.00003
|
|
NM_130797.4(DPP6):c.975C>G (p.Ile325Met)
|
rs561437580
|
0.00003
|
|
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)
|
rs200292987
|
0.00003
|
|
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)
|
rs201163469
|
0.00003
|
|
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly)
|
rs530079482
|
0.00003
|
|
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys)
|
rs776803926
|
0.00003
|
|
NM_138409.4(MRAP2):c.228-2A>G
|
rs756421129
|
0.00003
|
|
NM_138459.5(NUS1):c.445A>G (p.Met149Val)
|
rs1276753307
|
0.00003
|
|
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
|
rs143666626
|
0.00003
|
|
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
|
rs779555825
|
0.00003
|
|
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu)
|
rs752497862
|
0.00003
|
|
NM_138615.3(DHX30):c.509C>G (p.Pro170Arg)
|
rs61757585
|
0.00003
|
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
|
NM_138927.4(SON):c.2539G>C (p.Ala847Pro)
|
rs766258977
|
0.00003
|
|
NM_139281.3(WDR36):c.2057A>T (p.Asp686Val)
|
rs145638731
|
0.00003
|
|
NM_139284.3(LGI4):c.1250C>A (p.Ala417Asp)
|
rs974940176
|
0.00003
|
|
NM_139343.3(BIN1):c.1114G>A (p.Val372Met)
|
rs749198133
|
0.00003
|
|
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)
|
rs368616652
|
0.00003
|
|
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser)
|
rs200124094
|
0.00003
|
|
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)
|
rs587783342
|
0.00003
|
|
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
|
rs767159511
|
0.00003
|
|
NM_144572.2(TBC1D2B):c.2752C>T (p.Arg918Trp)
|
rs781005982
|
0.00003
|
|
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)
|
rs771113424
|
0.00003
|
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
|
NM_144666.3(DNHD1):c.3457G>T (p.Glu1153Ter)
|
rs760673520
|
0.00003
|
|
NM_144997.7(FLCN):c.971A>G (p.Gln324Arg)
|
rs767368450
|
0.00003
|
|
NM_145117.5(NAV2):c.2389G>A (p.Ala797Thr)
|
rs140354139
|
0.00003
|
|
NM_145117.5(NAV2):c.643G>A (p.Gly215Arg)
|
rs750093474
|
0.00003
|
|
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)
|
rs758955886
|
0.00003
|
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00003
|
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00003
|
|
NM_147191.1(MMP21):c.1517T>C (p.Ile506Thr)
|
rs532423524
|
0.00003
|
|
NM_152328.5(ADSS1):c.880G>A (p.Val294Met)
|
rs781702955
|
0.00003
|
|
NM_152385.4(CLHC1):c.976C>T (p.Arg326Ter)
|
rs753530709
|
0.00003
|
|
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
|
rs758132746
|
0.00003
|
|
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)
|
rs1685725563
|
0.00003
|
|
NM_152564.5(VPS13B):c.4746-3794A>C
|
rs1046269337
|
0.00003
|
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
|
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe)
|
rs760132893
|
0.00003
|
|
NM_152722.5(HEPACAM):c.133G>A (p.Gly45Ser)
|
rs751190197
|
0.00003
|
|
NM_153021.5(PLB1):c.3940C>T (p.Arg1314Cys)
|
rs143020142
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu)
|
rs370892022
|
0.00003
|
|
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)
|
rs749008952
|
0.00003
|
|
NM_153766.3(KCNJ1):c.-9A>G
|
rs200880089
|
0.00003
|
|
NM_153834.4(ADGRG4):c.559C>T (p.Leu187Phe)
|
rs779610287
|
0.00003
|
|
NM_170606.3(KMT2C):c.11405A>G (p.Asp3802Gly)
|
rs753255221
|
0.00003
|
|
NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys)
|
rs370620314
|
0.00003
|
|
NM_170606.3(KMT2C):c.5336A>C (p.Glu1779Ala)
|
rs372775360
|
0.00003
|
|
NM_170606.3(KMT2C):c.6308C>G (p.Pro2103Arg)
|
rs370231890
|
0.00003
|
|
NM_170606.3(KMT2C):c.7786C>T (p.Arg2596Trp)
|
rs769916428
|
0.00003
|
|
NM_170606.3(KMT2C):c.8849A>G (p.His2950Arg)
|
rs752050295
|
0.00003
|
|
NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val)
|
rs182795390
|
0.00003
|
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00003
|
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1321G>A (p.Asp441Asn)
|
rs766556903
|
0.00003
|
|
NM_173602.3(DIP2B):c.3275G>A (p.Arg1092Gln)
|
rs758233968
|
0.00003
|
|
NM_173630.4(RTTN):c.1652A>T (p.Glu551Val)
|
rs373900209
|
0.00003
|
|
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly)
|
rs769643041
|
0.00003
|
|
NM_173660.5(DOK7):c.1066G>A (p.Ala356Thr)
|
rs774459683
|
0.00003
|
|
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser)
|
rs574663125
|
0.00003
|
|
NM_173660.5(DOK7):c.1262C>A (p.Pro421His)
|
rs373261147
|
0.00003
|
|
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)
|
rs1390831169
|
0.00003
|
|
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln)
|
rs377554325
|
0.00003
|
|
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly)
|
rs745318716
|
0.00003
|
|
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser)
|
rs936914222
|
0.00003
|
|
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met)
|
rs529524270
|
0.00003
|
|
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)
|
rs201637366
|
0.00003
|
|
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
|
rs535085627
|
0.00003
|
|
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys)
|
rs763278796
|
0.00003
|
|
NM_182641.4(BPTF):c.3481T>C (p.Tyr1161His)
|
rs747101853
|
0.00003
|
|
NM_182914.3(SYNE2):c.10163C>T (p.Ser3388Leu)
|
rs759908590
|
0.00003
|
|
NM_182914.3(SYNE2):c.10556A>G (p.Glu3519Gly)
|
rs75146753
|
0.00003
|
|
NM_182914.3(SYNE2):c.11323T>A (p.Cys3775Ser)
|
rs753899883
|
0.00003
|
|
NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly)
|
rs769301000
|
0.00003
|
|
NM_182914.3(SYNE2):c.12307-2A>G
|
rs535952149
|
0.00003
|
|
NM_182914.3(SYNE2):c.12356T>G (p.Val4119Gly)
|
rs932903871
|
0.00003
|
|
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu)
|
rs747348017
|
0.00003
|
|
NM_182914.3(SYNE2):c.16736C>T (p.Thr5579Met)
|
rs767671229
|
0.00003
|
|
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)
|
rs554186246
|
0.00003
|
|
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
|
rs200137127
|
0.00003
|
|
NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala)
|
rs944538946
|
0.00003
|
|
NM_182914.3(SYNE2):c.17713G>A (p.Val5905Met)
|
rs778679729
|
0.00003
|
|
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
|
rs762635611
|
0.00003
|
|
NM_182914.3(SYNE2):c.19465C>T (p.His6489Tyr)
|
rs368086299
|
0.00003
|
|
NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)
|
rs556226477
|
0.00003
|
|
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
|
rs769553105
|
0.00003
|
|
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)
|
rs138789938
|
0.00003
|
|
NM_182914.3(SYNE2):c.20500G>A (p.Glu6834Lys)
|
rs967979537
|
0.00003
|
|
NM_182914.3(SYNE2):c.20711C>T (p.Pro6904Leu)
|
rs377394999
|
0.00003
|
|
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)
|
rs763133096
|
0.00003
|
|
NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)
|
rs1007865427
|
0.00003
|
|
NM_182914.3(SYNE2):c.2644A>G (p.Lys882Glu)
|
rs780484883
|
0.00003
|
|
NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)
|
rs767613525
|
0.00003
|
|
NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)
|
rs770988447
|
0.00003
|
|
NM_182914.3(SYNE2):c.3643G>A (p.Glu1215Lys)
|
rs373294902
|
0.00003
|
|
NM_182914.3(SYNE2):c.3809A>G (p.Lys1270Arg)
|
rs753026745
|
0.00003
|
|
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
|
rs748414819
|
0.00003
|
|
NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)
|
rs370246009
|
0.00003
|
|
NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser)
|
rs200554446
|
0.00003
|
|
NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His)
|
rs1264331455
|
0.00003
|
|
NM_182914.3(SYNE2):c.6569A>G (p.Lys2190Arg)
|
rs1215475161
|
0.00003
|
|
NM_182914.3(SYNE2):c.6829G>C (p.Asp2277His)
|
rs997204353
|
0.00003
|
|
NM_182914.3(SYNE2):c.8621A>G (p.His2874Arg)
|
rs368253284
|
0.00003
|
|
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val)
|
rs773914389
|
0.00003
|
|
NM_182931.3(KMT2E):c.4540A>G (p.Thr1514Ala)
|
rs746208782
|
0.00003
|
|
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp)
|
rs777447487
|
0.00003
|
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
|
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln)
|
rs774322624
|
0.00003
|
|
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
|
rs200140440
|
0.00003
|
|
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
|
rs1171437866
|
0.00003
|
|
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn)
|
rs762502490
|
0.00003
|
|
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys)
|
rs780258342
|
0.00003
|
|
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly)
|
rs375432465
|
0.00003
|
|
NM_182961.4(SYNE1):c.15865G>A (p.Glu5289Lys)
|
rs765576584
|
0.00003
|
|
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)
|
rs202105931
|
0.00003
|
|
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)
|
rs373679435
|
0.00003
|
|
NM_182961.4(SYNE1):c.17162G>A (p.Arg5721Gln)
|
rs767936566
|
0.00003
|
|
NM_182961.4(SYNE1):c.17519C>T (p.Ser5840Leu)
|
rs375874029
|
0.00003
|
|
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile)
|
rs138258566
|
0.00003
|
|
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys)
|
rs551488589
|
0.00003
|
|
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
|
rs774558249
|
0.00003
|
|
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
|
rs553508431
|
0.00003
|
|
NM_182961.4(SYNE1):c.19980C>A (p.Thr6660=)
|
rs763158904
|
0.00003
|
|
NM_182961.4(SYNE1):c.19981C>A (p.Gln6661Lys)
|
rs776059938
|
0.00003
|
|
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His)
|
rs767684007
|
0.00003
|
|
NM_182961.4(SYNE1):c.20660A>G (p.Gln6887Arg)
|
rs150163670
|
0.00003
|
|
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu)
|
rs139062689
|
0.00003
|
|
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly)
|
rs759479600
|
0.00003
|
|
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
|
rs745463378
|
0.00003
|
|
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)
|
rs752057121
|
0.00003
|
|
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)
|
rs202017153
|
0.00003
|
|
NM_182961.4(SYNE1):c.2333C>G (p.Pro778Arg)
|
rs1564199868
|
0.00003
|
|
NM_182961.4(SYNE1):c.23594G>A (p.Arg7865Gln)
|
rs1055534806
|
0.00003
|
|
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr)
|
rs780029496
|
0.00003
|
|
NM_182961.4(SYNE1):c.2414C>T (p.Pro805Leu)
|
rs201508577
|
0.00003
|
|
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)
|
rs375917264
|
0.00003
|
|
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
|
rs373016793
|
0.00003
|
|
NM_182961.4(SYNE1):c.242G>A (p.Arg81His)
|
rs761189574
|
0.00003
|
|
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)
|
rs149940427
|
0.00003
|
|
NM_182961.4(SYNE1):c.24727C>T (p.Arg8243Cys)
|
rs752751370
|
0.00003
|
|
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu)
|
rs188852595
|
0.00003
|
|
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
|
rs748328529
|
0.00003
|
|
NM_182961.4(SYNE1):c.25135G>A (p.Glu8379Lys)
|
rs531559372
|
0.00003
|
|
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
|
rs1251175162
|
0.00003
|
|
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)
|
rs772814249
|
0.00003
|
|
NM_182961.4(SYNE1):c.3455G>A (p.Gly1152Asp)
|
rs372062453
|
0.00003
|
|
NM_182961.4(SYNE1):c.3493C>T (p.Arg1165Cys)
|
rs777507702
|
0.00003
|
|
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe)
|
rs886061212
|
0.00003
|
|
NM_182961.4(SYNE1):c.3889G>A (p.Ala1297Thr)
|
rs781769990
|
0.00003
|
|
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala)
|
rs141164314
|
0.00003
|
|
NM_182961.4(SYNE1):c.4087C>T (p.His1363Tyr)
|
rs886044504
|
0.00003
|
|
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys)
|
rs148885424
|
0.00003
|
|
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg)
|
rs567913785
|
0.00003
|
|
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp)
|
rs763781396
|
0.00003
|
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
|
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
|
rs200640405
|
0.00003
|
|
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser)
|
rs28447480
|
0.00003
|
|
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile)
|
rs372524102
|
0.00003
|
|
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser)
|
rs377180714
|
0.00003
|
|
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His)
|
rs759461786
|
0.00003
|
|
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser)
|
rs367840064
|
0.00003
|
|
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile)
|
rs144069436
|
0.00003
|
|
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
|
rs748658983
|
0.00003
|
|
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)
|
rs1020832262
|
0.00003
|
|
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met)
|
rs548283137
|
0.00003
|
|
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val)
|
rs753690047
|
0.00003
|
|
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
|
rs746943889
|
0.00003
|
|
NM_198123.2(CSMD3):c.4499T>C (p.Ile1500Thr)
|
rs200017659
|
0.00003
|
|
NM_198271.5(LMOD3):c.332G>A (p.Arg111His)
|
rs370401036
|
0.00003
|
|
NM_198282.4(STING1):c.688G>A (p.Gly230Ser)
|
rs370230460
|
0.00003
|
|
NM_198465.4(NRK):c.3740G>A (p.Arg1247Gln)
|
rs755263364
|
0.00003
|
|
NM_198525.3(KIF7):c.1164C>T (p.Gly388=)
|
rs975756878
|
0.00003
|
|
NM_198525.3(KIF7):c.137G>A (p.Arg46His)
|
rs959891471
|
0.00003
|
|
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro)
|
rs762864604
|
0.00003
|
|
NM_198525.3(KIF7):c.3887G>A (p.Arg1296Gln)
|
rs201363681
|
0.00003
|
|
NM_198578.4(LRRK2):c.2915A>G (p.Asp972Gly)
|
rs201718451
|
0.00003
|
|
NM_201269.3(ZNF644):c.1100C>T (p.Pro367Leu)
|
rs771221567
|
0.00003
|
|
NM_201384.3(PLEC):c.10042C>T (p.Arg3348Trp)
|
rs782069625
|
0.00003
|
|
NM_201384.3(PLEC):c.10127G>A (p.Arg3376His)
|
rs781908703
|
0.00003
|
|
NM_201384.3(PLEC):c.10553A>G (p.His3518Arg)
|
rs369538885
|
0.00003
|
|
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)
|
rs782299720
|
0.00003
|
|
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln)
|
rs369570610
|
0.00003
|
|
NM_201384.3(PLEC):c.10850G>A (p.Arg3617His)
|
rs782758161
|
0.00003
|
|
NM_201384.3(PLEC):c.11095G>A (p.Gly3699Ser)
|
rs372372955
|
0.00003
|
|
NM_201384.3(PLEC):c.11257G>A (p.Val3753Met)
|
rs782803934
|
0.00003
|
|
NM_201384.3(PLEC):c.11278C>T (p.Arg3760Cys)
|
rs782414508
|
0.00003
|
|
NM_201384.3(PLEC):c.11315G>A (p.Arg3772His)
|
rs373965625
|
0.00003
|
|
NM_201384.3(PLEC):c.11557G>A (p.Glu3853Lys)
|
rs535152020
|
0.00003
|
|
NM_201384.3(PLEC):c.11588G>A (p.Arg3863Gln)
|
rs781893455
|
0.00003
|
|
NM_201384.3(PLEC):c.11723C>T (p.Ala3908Val)
|
rs367564112
|
0.00003
|
|
NM_201384.3(PLEC):c.11836C>T (p.Arg3946Trp)
|
rs782773454
|
0.00003
|
|
NM_201384.3(PLEC):c.11932G>A (p.Asp3978Asn)
|
rs369738267
|
0.00003
|
|
NM_201384.3(PLEC):c.12025C>T (p.Arg4009Cys)
|
rs989279969
|
0.00003
|
|
NM_201384.3(PLEC):c.12142G>A (p.Ala4048Thr)
|
rs782570858
|
0.00003
|
|
NM_201384.3(PLEC):c.1214C>T (p.Ala405Val)
|
rs377430087
|
0.00003
|
|
NM_201384.3(PLEC):c.12650C>T (p.Ser4217Leu)
|
rs782268573
|
0.00003
|
|
NM_201384.3(PLEC):c.1270C>T (p.Arg424Trp)
|
rs782134950
|
0.00003
|
|
NM_201384.3(PLEC):c.12886G>A (p.Glu4296Lys)
|
rs782071585
|
0.00003
|
|
NM_201384.3(PLEC):c.13010A>G (p.Asn4337Ser)
|
rs781813093
|
0.00003
|
|
NM_201384.3(PLEC):c.13355G>A (p.Arg4452His)
|
rs782264132
|
0.00003
|
|
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser)
|
rs373807877
|
0.00003
|
|
NM_201384.3(PLEC):c.1472G>A (p.Arg491Gln)
|
rs781938961
|
0.00003
|
|
NM_201384.3(PLEC):c.1762G>C (p.Gly588Arg)
|
rs782357722
|
0.00003
|
|
NM_201384.3(PLEC):c.1834C>T (p.Leu612Phe)
|
rs782249405
|
0.00003
|
|
NM_201384.3(PLEC):c.1936G>A (p.Asp646Asn)
|
rs371273735
|
0.00003
|
|
NM_201384.3(PLEC):c.1939C>T (p.Arg647Cys)
|
rs201238023
|
0.00003
|
|
NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser)
|
rs782532633
|
0.00003
|
|
NM_201384.3(PLEC):c.2579C>T (p.Pro860Leu)
|
rs1270898395
|
0.00003
|
|
NM_201384.3(PLEC):c.2743C>T (p.Arg915Cys)
|
rs376236283
|
0.00003
|
|
NM_201384.3(PLEC):c.2827G>A (p.Ala943Thr)
|
rs781983107
|
0.00003
|
|
NM_201384.3(PLEC):c.2951G>A (p.Arg984His)
|
rs782740422
|
0.00003
|
|
NM_201384.3(PLEC):c.3304G>A (p.Glu1102Lys)
|
rs782023030
|
0.00003
|
|
NM_201384.3(PLEC):c.3449G>A (p.Arg1150Gln)
|
rs782638887
|
0.00003
|
|
NM_201384.3(PLEC):c.3619C>T (p.Arg1207Cys)
|
rs782816670
|
0.00003
|
|
NM_201384.3(PLEC):c.3686G>A (p.Arg1229Gln)
|
rs369021425
|
0.00003
|
|
NM_201384.3(PLEC):c.3809G>A (p.Arg1270Lys)
|
rs1233394458
|
0.00003
|
|
NM_201384.3(PLEC):c.3896C>T (p.Pro1299Leu)
|
rs201955391
|
0.00003
|
|
NM_201384.3(PLEC):c.4297A>G (p.Ile1433Val)
|
rs782599875
|
0.00003
|
|
NM_201384.3(PLEC):c.4313G>A (p.Arg1438Gln)
|
rs782642707
|
0.00003
|
|
NM_201384.3(PLEC):c.4345C>T (p.Arg1449Cys)
|
rs782348767
|
0.00003
|
|
NM_201384.3(PLEC):c.4441C>T (p.Arg1481Trp)
|
rs782712833
|
0.00003
|
|
NM_201384.3(PLEC):c.4617G>A (p.Glu1539=)
|
rs1485661864
|
0.00003
|
|
NM_201384.3(PLEC):c.4819C>T (p.Arg1607Trp)
|
rs781818101
|
0.00003
|
|
NM_201384.3(PLEC):c.4990A>G (p.Lys1664Glu)
|
rs782318719
|
0.00003
|
|
NM_201384.3(PLEC):c.5066T>C (p.Leu1689Pro)
|
rs1379584744
|
0.00003
|
|
NM_201384.3(PLEC):c.5155C>T (p.Arg1719Trp)
|
rs782367966
|
0.00003
|
|
NM_201384.3(PLEC):c.5221C>T (p.Arg1741Cys)
|
rs901180742
|
0.00003
|
|
NM_201384.3(PLEC):c.5249G>T (p.Arg1750Leu)
|
rs782302326
|
0.00003
|
|
NM_201384.3(PLEC):c.5549C>T (p.Thr1850Met)
|
rs534267486
|
0.00003
|
|
NM_201384.3(PLEC):c.5617G>A (p.Glu1873Lys)
|
rs367715409
|
0.00003
|
|
NM_201384.3(PLEC):c.5705C>T (p.Ser1902Leu)
|
rs781817576
|
0.00003
|
|
NM_201384.3(PLEC):c.5723G>A (p.Arg1908Gln)
|
rs369142466
|
0.00003
|
|
NM_201384.3(PLEC):c.5848C>T (p.Arg1950Cys)
|
rs566539439
|
0.00003
|
|
NM_201384.3(PLEC):c.5864C>T (p.Ala1955Val)
|
rs1015888204
|
0.00003
|
|
NM_201384.3(PLEC):c.5989G>A (p.Glu1997Lys)
|
rs373454032
|
0.00003
|
|
NM_201384.3(PLEC):c.6309G>T (p.Glu2103Asp)
|
rs781890668
|
0.00003
|
|
NM_201384.3(PLEC):c.6520G>A (p.Ala2174Thr)
|
rs782018578
|
0.00003
|
|
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)
|
rs576252504
|
0.00003
|
|
NM_201384.3(PLEC):c.7213C>T (p.Arg2405Cys)
|
rs782579294
|
0.00003
|
|
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)
|
rs199995144
|
0.00003
|
|
NM_201384.3(PLEC):c.791G>A (p.Arg264His)
|
rs781893683
|
0.00003
|
|
NM_201384.3(PLEC):c.8053C>T (p.Arg2685Trp)
|
rs782453907
|
0.00003
|
|
NM_201384.3(PLEC):c.8083C>T (p.Arg2695Cys)
|
rs782025300
|
0.00003
|
|
NM_201384.3(PLEC):c.8170G>A (p.Gly2724Ser)
|
rs782189332
|
0.00003
|
|
NM_201384.3(PLEC):c.8521C>T (p.Arg2841Cys)
|
rs539060494
|
0.00003
|
|
NM_201384.3(PLEC):c.8750T>G (p.Phe2917Cys)
|
rs782357952
|
0.00003
|
|
NM_201384.3(PLEC):c.8815C>T (p.Arg2939Trp)
|
rs782575301
|
0.00003
|
|
NM_201384.3(PLEC):c.9479G>A (p.Arg3160Gln)
|
rs782280714
|
0.00003
|
|
NM_201384.3(PLEC):c.9616G>A (p.Gly3206Arg)
|
rs782594100
|
0.00003
|
|
NM_201384.3(PLEC):c.9632C>T (p.Pro3211Leu)
|
rs781793644
|
0.00003
|
|
NM_201384.3(PLEC):c.9703G>A (p.Glu3235Lys)
|
rs373873935
|
0.00003
|
|
NM_201384.3(PLEC):c.9941C>T (p.Ala3314Val)
|
rs370238652
|
0.00003
|
|
NM_205861.3(DHDDS):c.688G>A (p.Val230Ile)
|
rs143075758
|
0.00003
|
|
NM_207122.2(EXT2):c.1301C>T (p.Ala434Val)
|
rs1335016679
|
0.00003
|
|
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser)
|
rs139344099
|
0.00003
|
|
NM_213599.3(ANO5):c.1165T>C (p.Phe389Leu)
|
rs886043042
|
0.00003
|
|
NM_213599.3(ANO5):c.1387G>A (p.Gly463Arg)
|
rs776193177
|
0.00003
|
|
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)
|
rs749698519
|
0.00003
|
|
NM_213599.3(ANO5):c.2039T>C (p.Phe680Ser)
|
rs777640863
|
0.00003
|
|
NM_213599.3(ANO5):c.2489C>T (p.Ala830Val)
|
rs766853141
|
0.00003
|
|
NM_213599.3(ANO5):c.416T>C (p.Val139Ala)
|
rs758319655
|
0.00003
|
|
NM_213599.3(ANO5):c.581A>G (p.His194Arg)
|
rs146418790
|
0.00003
|
|
NM_213599.3(ANO5):c.788C>T (p.Pro263Leu)
|
rs754281591
|
0.00003
|
|
NM_213599.3(ANO5):c.803A>G (p.Asn268Ser)
|
rs769560800
|
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_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00002
|
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
|
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu)
|
rs753180048
|
0.00002
|
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
|
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp)
|
rs782760033
|
0.00002
|
|
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys)
|
rs777802711
|
0.00002
|
|
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr)
|
rs765248906
|
0.00002
|
|
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
|
rs1161639285
|
0.00002
|
|
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met)
|
rs563833117
|
0.00002
|
|
NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)
|
rs772591938
|
0.00002
|
|
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
|
rs147901593
|
0.00002
|
|
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
|
rs139384745
|
0.00002
|
|
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)
|
rs746486928
|
0.00002
|
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00002
|
|
NM_000038.6(APC):c.8162G>A (p.Arg2721His)
|
rs587780606
|
0.00002
|
|
NM_000046.5(ARSB):c.176A>G (p.Asp59Gly)
|
rs1179935748
|
0.00002
|
|
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
|
rs748739839
|
0.00002
|
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00002
|
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
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_000062.3(SERPING1):c.1465C>G (p.Pro489Ala)
|
rs2495458621
|
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.2065G>A (p.Gly689Ser)
|
rs753313121
|
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_000069.3(CACNA1S):c.862T>G (p.Cys288Gly)
|
rs201585867
|
0.00002
|
|
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His)
|
rs376273996
|
0.00002
|
|
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)
|
rs143583537
|
0.00002
|
|
NM_000070.3(CAPN3):c.1537-29A>T
|
rs780147629
|
0.00002
|
|
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu)
|
rs546820887
|
0.00002
|
|
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu)
|
rs749614603
|
0.00002
|
|
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser)
|
rs398123145
|
0.00002
|
|
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup)
|
rs753836989
|
0.00002
|
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
|
NM_000079.4(CHRNA1):c.841G>A (p.Val281Met)
|
rs764265345
|
0.00002
|
|
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)
|
rs754001856
|
0.00002
|
|
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)
|
rs747853975
|
0.00002
|
|
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn)
|
rs759127314
|
0.00002
|
|
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)
|
rs746521766
|
0.00002
|
|
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser)
|
rs760815034
|
0.00002
|
|
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
|
rs745683698
|
0.00002
|
|
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
|
rs144261004
|
0.00002
|
|
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
|
rs200324240
|
0.00002
|
|
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
|
rs942149206
|
0.00002
|
|
NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)
|
rs1422182697
|
0.00002
|
|
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
|
rs138391419
|
0.00002
|
|
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
|
rs761345760
|
0.00002
|
|
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
|
rs145069394
|
0.00002
|
|
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
|
rs566777948
|
0.00002
|
|
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
|
rs150974382
|
0.00002
|
|
NM_000081.4(LYST):c.9944G>A (p.Arg3315His)
|
rs746802579
|
0.00002
|
|
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
|
rs143009041
|
0.00002
|
|
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)
|
rs755182969
|
0.00002
|
|
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser)
|
rs766432255
|
0.00002
|
|
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val)
|
rs746346988
|
0.00002
|
|
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln)
|
rs750187204
|
0.00002
|
|
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln)
|
rs760351874
|
0.00002
|
|
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala)
|
rs1428234081
|
0.00002
|
|
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys)
|
rs754581538
|
0.00002
|
|
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
|
rs780727663
|
0.00002
|
|
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)
|
rs777708543
|
0.00002
|
|
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)
|
rs1554434802
|
0.00002
|
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
|
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
|
rs766839110
|
0.00002
|
|
NM_000098.3(CPT2):c.1393G>A (p.Ala465Thr)
|
rs1368254719
|
0.00002
|
|
NM_000098.3(CPT2):c.188G>A (p.Arg63Lys)
|
rs748182542
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
|
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
|
rs1452250882
|
0.00002
|
|
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)
|
rs1262954618
|
0.00002
|
|
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)
|
rs782299893
|
0.00002
|
|
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg)
|
rs775549101
|
0.00002
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
rs915340058
|
0.00002
|
|
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
|
rs367820147
|
0.00002
|
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
|
NM_000142.5(FGFR3):c.2078C>T (p.Ser693Phe)
|
rs760292339
|
0.00002
|
|
NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr)
|
rs573850631
|
0.00002
|
|
NM_000143.4(FH):c.1049G>A (p.Arg350Gln)
|
rs749316923
|
0.00002
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
0.00002
|
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00002
|
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
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_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00002
|
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
|
NM_000153.4(GALC):c.448C>T (p.Pro150Ser)
|
rs372568602
|
0.00002
|
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00002
|
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
|
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
rs748095370
|
0.00002
|
|
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)
|
rs143406263
|
0.00002
|
|
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)
|
rs886044779
|
0.00002
|
|
NM_000169.3(GLA):c.831G>C (p.Trp277Cys)
|
rs782196174
|
0.00002
|
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00002
|
|
NM_000178.4(GSS):c.1078C>T (p.Arg360Trp)
|
rs764687998
|
0.00002
|
|
NM_000178.4(GSS):c.1154A>G (p.Gln385Arg)
|
rs774158841
|
0.00002
|
|
NM_000178.4(GSS):c.482C>A (p.Ala161Asp)
|
rs760356576
|
0.00002
|
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
|
NM_000180.4(GUCY2D):c.1222G>A (p.Asp408Asn)
|
rs865899393
|
0.00002
|
|
NM_000181.4(GUSB):c.805G>C (p.Val269Leu)
|
rs755211573
|
0.00002
|
|
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)
|
rs375951438
|
0.00002
|
|
NM_000193.4(SHH):c.44C>G (p.Ser15Trp)
|
rs760920236
|
0.00002
|
|
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
|
rs751688813
|
0.00002
|
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
|
NM_000203.5(IDUA):c.1247A>C (p.His416Pro)
|
rs1419725967
|
0.00002
|
|
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
|
rs570594115
|
0.00002
|
|
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
|
rs794727017
|
0.00002
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
rs201345740
|
0.00002
|
|
NM_000203.5(IDUA):c.341T>G (p.Leu114Arg)
|
rs775542391
|
0.00002
|
|
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
|
rs537047205
|
0.00002
|
|
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
|
rs768462916
|
0.00002
|
|
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
|
rs374699130
|
0.00002
|
|
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)
|
rs1327002160
|
0.00002
|
|
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn)
|
rs747465523
|
0.00002
|
|
NM_000222.3(KIT):c.829A>G (p.Ile277Val)
|
rs757547974
|
0.00002
|
|
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)
|
rs1341628230
|
0.00002
|
|
NM_000228.3(LAMB3):c.781C>G (p.Pro261Ala)
|
rs537985381
|
0.00002
|
|
NM_000231.3(SGCG):c.236G>A (p.Arg79His)
|
rs375766013
|
0.00002
|
|
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)
|
rs569816696
|
0.00002
|
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
|
NM_000231.3(SGCG):c.623G>T (p.Gly208Val)
|
rs778119056
|
0.00002
|
|
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)
|
rs886158091
|
0.00002
|
|
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
|
rs768545658
|
0.00002
|
|
NM_000232.5(SGCB):c.243+1548T>C
|
rs1334895197
|
0.00002
|
|
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)
|
rs199473030
|
0.00002
|
|
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)
|
rs1057519328
|
0.00002
|
|
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)
|
rs1347335331
|
0.00002
|
|
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
|
rs782451760
|
0.00002
|
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
|
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)
|
rs758659692
|
0.00002
|
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
|
NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)
|
rs397516147
|
0.00002
|
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
|
NM_000257.4(MYH7):c.3475G>A (p.Val1159Met)
|
rs730880776
|
0.00002
|
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
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.4558G>A (p.Gly1520Arg)
|
rs763683589
|
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.3637C>T (p.Arg1213Trp)
|
rs772481987
|
0.00002
|
|
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met)
|
rs370675945
|
0.00002
|
|
NM_000270.4(PNP):c.554G>A (p.Arg185His)
|
rs963944697
|
0.00002
|
|
NM_000273.3(GPR143):c.363G>A (p.Met121Ile)
|
rs141573793
|
0.00002
|
|
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
|
rs748718049
|
0.00002
|
|
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
|
rs147273213
|
0.00002
|
|
NM_000291.4(PGK1):c.278T>C (p.Val93Ala)
|
rs782807093
|
0.00002
|
|
NM_000291.4(PGK1):c.352C>A (p.Leu118Met)
|
rs374169747
|
0.00002
|
|
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln)
|
rs369183199
|
0.00002
|
|
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)
|
rs558752942
|
0.00002
|
|
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser)
|
rs374835121
|
0.00002
|
|
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys)
|
rs540596321
|
0.00002
|
|
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile)
|
rs906634749
|
0.00002
|
|
NM_000334.4(SCN4A):c.188A>G (p.Asn63Ser)
|
rs941497920
|
0.00002
|
|
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val)
|
rs1395381249
|
0.00002
|
|
NM_000334.4(SCN4A):c.2182G>C (p.Glu728Gln)
|
rs1555603141
|
0.00002
|
|
NM_000334.4(SCN4A):c.2449G>A (p.Gly817Ser)
|
rs746797094
|
0.00002
|
|
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg)
|
rs1028907866
|
0.00002
|
|
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His)
|
rs556099012
|
0.00002
|
|
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)
|
rs899627353
|
0.00002
|
|
NM_000334.4(SCN4A):c.3157A>G (p.Ile1053Val)
|
rs776179378
|
0.00002
|
|
NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp)
|
rs778176181
|
0.00002
|
|
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)
|
rs201916531
|
0.00002
|
|
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile)
|
rs967530693
|
0.00002
|
|
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg)
|
rs150423825
|
0.00002
|
|
NM_000334.4(SCN4A):c.4532C>T (p.Ser1511Leu)
|
rs377548921
|
0.00002
|
|
NM_000334.4(SCN4A):c.4805A>G (p.Asn1602Ser)
|
rs756174308
|
0.00002
|
|
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr)
|
rs769365503
|
0.00002
|
|
NM_000334.4(SCN4A):c.5315T>C (p.Leu1772Pro)
|
rs780575534
|
0.00002
|
|
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu)
|
rs755321637
|
0.00002
|
|
NM_000334.4(SCN4A):c.757G>A (p.Val253Met)
|
rs772899378
|
0.00002
|
|
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu)
|
rs886053250
|
0.00002
|
|
NM_000335.5(SCN5A):c.1568G>A (p.Arg523His)
|
rs199533947
|
0.00002
|
|
NM_000335.5(SCN5A):c.2948G>A (p.Gly983Asp)
|
rs766096031
|
0.00002
|
|
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)
|
rs1488623227
|
0.00002
|
|
NM_000342.3(SLC4A1):c.-62G>A
|
rs387906565
|
0.00002
|
|
NM_000342.4(SLC4A1):c.1036C>T (p.Arg346Cys)
|
rs371106409
|
0.00002
|
|
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr)
|
rs368353943
|
0.00002
|
|
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)
|
rs746406399
|
0.00002
|
|
NM_000352.6(ABCC8):c.553G>A (p.Val185Met)
|
rs747129513
|
0.00002
|
|
NM_000353.3(TAT):c.805G>A (p.Asp269Asn)
|
rs140026368
|
0.00002
|
|
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
|
rs139592683
|
0.00002
|
|
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)
|
rs746304922
|
0.00002
|
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
|
NM_000372.5(TYR):c.1309G>A (p.Asp437Asn)
|
rs770006288
|
0.00002
|
|
NM_000384.3(APOB):c.2535G>C (p.Gln845His)
|
rs778467805
|
0.00002
|
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
|
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)
|
rs778446022
|
0.00002
|
|
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)
|
rs1442202553
|
0.00002
|
|
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
|
rs762655673
|
0.00002
|
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
|
NM_000426.4(LAMA2):c.1496G>A (p.Arg499His)
|
rs752075358
|
0.00002
|
|
NM_000426.4(LAMA2):c.2239G>A (p.Gly747Ser)
|
rs145940188
|
0.00002
|
|
NM_000426.4(LAMA2):c.2916T>G (p.Phe972Leu)
|
rs763840955
|
0.00002
|
|
NM_000426.4(LAMA2):c.3002A>C (p.His1001Pro)
|
rs554956654
|
0.00002
|
|
NM_000426.4(LAMA2):c.30T>G (p.Leu10=)
|
rs886061038
|
0.00002
|
|
NM_000426.4(LAMA2):c.335G>A (p.Ser112Asn)
|
rs754373965
|
0.00002
|
|
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)
|
rs372576669
|
0.00002
|
|
NM_000426.4(LAMA2):c.467G>A (p.Arg156His)
|
rs753835841
|
0.00002
|
|
NM_000426.4(LAMA2):c.5059C>T (p.Arg1687Trp)
|
rs754518146
|
0.00002
|
|
NM_000426.4(LAMA2):c.5675A>T (p.Gln1892Leu)
|
rs779542581
|
0.00002
|
|
NM_000426.4(LAMA2):c.6163A>G (p.Ile2055Val)
|
rs1782074917
|
0.00002
|
|
NM_000426.4(LAMA2):c.6647G>A (p.Arg2216His)
|
rs371191809
|
0.00002
|
|
NM_000426.4(LAMA2):c.6806C>T (p.Thr2269Met)
|
rs150237160
|
0.00002
|
|
NM_000426.4(LAMA2):c.7525C>T (p.Leu2509Phe)
|
rs1028858920
|
0.00002
|
|
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala)
|
rs376917587
|
0.00002
|
|
NM_000426.4(LAMA2):c.908A>C (p.Asn303Thr)
|
rs753228224
|
0.00002
|
|
NM_000432.4(MYL2):c.380C>T (p.Ala127Val)
|
rs141878747
|
0.00002
|
|
NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly)
|
rs769306313
|
0.00002
|
|
NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr)
|
rs375204962
|
0.00002
|
|
NM_000476.3(AK1):c.158G>A (p.Arg53Lys)
|
rs528369830
|
0.00002
|
|
NM_000476.3(AK1):c.229C>T (p.Arg77Trp)
|
rs766671097
|
0.00002
|
|
NM_000476.3(AK1):c.254A>G (p.Asn85Ser)
|
rs147616730
|
0.00002
|
|
NM_000478.6(ALPL):c.116A>G (p.Tyr39Cys)
|
rs777235122
|
0.00002
|
|
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)
|
rs144393886
|
0.00002
|
|
NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)
|
rs782817063
|
0.00002
|
|
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
|
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)
|
rs149195735
|
0.00002
|
|
NM_000489.6(ATRX):c.2907A>C (p.Leu969=)
|
rs782330959
|
0.00002
|
|
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
|
rs374689323
|
0.00002
|
|
NM_000494.4(COL17A1):c.1369C>G (p.Pro457Ala)
|
rs781186018
|
0.00002
|
|
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
|
rs782238382
|
0.00002
|
|
NM_000506.5(F2):c.670C>T (p.Arg224Cys)
|
rs766235456
|
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_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
|
rs368951229
|
0.00002
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
rs1270845236
|
0.00002
|
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
|
NM_000540.3(RYR1):c.10357C>T (p.Arg3453Cys)
|
rs1482429489
|
0.00002
|
|
NM_000540.3(RYR1):c.10358G>A (p.Arg3453His)
|
rs187802601
|
0.00002
|
|
NM_000540.3(RYR1):c.10526T>C (p.Leu3509Pro)
|
rs750516506
|
0.00002
|
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
|
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)
|
rs910313832
|
0.00002
|
|
NM_000540.3(RYR1):c.1204A>G (p.Met402Val)
|
rs766763626
|
0.00002
|
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
|
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr)
|
rs193922848
|
0.00002
|
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
|
NM_000540.3(RYR1):c.13235C>G (p.Ala4412Gly)
|
rs1424972002
|
0.00002
|
|
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val)
|
rs369932139
|
0.00002
|
|
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp)
|
rs377667641
|
0.00002
|
|
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys)
|
rs201147958
|
0.00002
|
|
NM_000540.3(RYR1):c.14236C>A (p.Leu4746Met)
|
rs752910637
|
0.00002
|
|
NM_000540.3(RYR1):c.14258C>T (p.Ala4753Val)
|
rs769528396
|
0.00002
|
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00002
|
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00002
|
|
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His)
|
rs747155223
|
0.00002
|
|
NM_000540.3(RYR1):c.1925+7C>T
|
rs559157737
|
0.00002
|
|
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys)
|
rs144845360
|
0.00002
|
|
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser)
|
rs773211015
|
0.00002
|
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
|
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His)
|
rs374776563
|
0.00002
|
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00002
|
|
NM_000540.3(RYR1):c.3633G>T (p.Arg1211Ser)
|
rs753194151
|
0.00002
|
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
|
NM_000540.3(RYR1):c.3994G>A (p.Glu1332Lys)
|
rs896157692
|
0.00002
|
|
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln)
|
rs758206000
|
0.00002
|
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
|
NM_000540.3(RYR1):c.5021C>T (p.Ala1674Val)
|
rs1026509467
|
0.00002
|
|
NM_000540.3(RYR1):c.5086G>A (p.Ala1696Thr)
|
rs1179510850
|
0.00002
|
|
NM_000540.3(RYR1):c.5258C>T (p.Thr1753Ile)
|
rs376701953
|
0.00002
|
|
NM_000540.3(RYR1):c.5650G>C (p.Gly1884Arg)
|
rs776093828
|
0.00002
|
|
NM_000540.3(RYR1):c.5861G>A (p.Arg1954His)
|
rs775643457
|
0.00002
|
|
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)
|
rs763360938
|
0.00002
|
|
NM_000540.3(RYR1):c.625G>A (p.Glu209Lys)
|
rs771058055
|
0.00002
|
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
|
NM_000540.3(RYR1):c.6547G>A (p.Gly2183Arg)
|
rs774275648
|
0.00002
|
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
|
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His)
|
rs768343466
|
0.00002
|
|
NM_000540.3(RYR1):c.7237G>A (p.Glu2413Lys)
|
rs1555783458
|
0.00002
|
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
|
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His)
|
rs751180702
|
0.00002
|
|
NM_000540.3(RYR1):c.7853T>C (p.Met2618Thr)
|
rs769326916
|
0.00002
|
|
NM_000540.3(RYR1):c.9775T>G (p.Ser3259Ala)
|
rs778295379
|
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_000553.6(WRN):c.3389T>C (p.Met1130Thr)
|
rs774227681
|
0.00002
|
|
NM_000581.4(GPX1):c.592C>T (p.Gln198Ter)
|
rs752321532
|
0.00002
|
|
NM_000628.5(IL10RB):c.421G>A (p.Glu141Lys)
|
rs387907326
|
0.00002
|
|
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)
|
rs1445798354
|
0.00002
|
|
NM_000637.5(GSR):c.395C>T (p.Pro132Leu)
|
rs777862222
|
0.00002
|
|
NM_000693.4(ALDH1A3):c.865G>A (p.Val289Met)
|
rs746016250
|
0.00002
|
|
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
|
rs768151492
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)
|
rs121912267
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln)
|
rs200810080
|
0.00002
|
|
NM_000747.3(CHRNB1):c.1063C>T (p.Pro355Ser)
|
rs780673811
|
0.00002
|
|
NM_000747.3(CHRNB1):c.914T>G (p.Val305Gly)
|
rs372910299
|
0.00002
|
|
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys)
|
rs140982683
|
0.00002
|
|
NM_000789.4(ACE):c.22C>T (p.Arg8Trp)
|
rs1333116255
|
0.00002
|
|
NM_000811.3(GABRA6):c.143G>A (p.Arg48Gln)
|
rs751098162
|
0.00002
|
|
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu)
|
rs539587921
|
0.00002
|
|
NM_000815.5(GABRD):c.1147G>A (p.Val383Ile)
|
rs1459168993
|
0.00002
|
|
NM_000829.4(GRIA4):c.512T>C (p.Met171Thr)
|
rs370731374
|
0.00002
|
|
NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
|
rs777564086
|
0.00002
|
|
NM_000875.5(IGF1R):c.4024G>A (p.Glu1342Lys)
|
rs1442885994
|
0.00002
|
|
NM_000875.5(IGF1R):c.733G>A (p.Asp245Asn)
|
rs1361565953
|
0.00002
|
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
|
NM_000975.5(RPL11):c.258T>G (p.Gly86=)
|
rs760885169
|
0.00002
|
|
NM_000996.4(RPL35A):c.309+3G>C
|
rs375769379
|
0.00002
|
|
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val)
|
rs772188117
|
0.00002
|
|
NM_001003694.2(BRPF1):c.482A>G (p.Asn161Ser)
|
rs760729926
|
0.00002
|
|
NM_001005273.3(CHD3):c.4775A>G (p.Lys1592Arg)
|
rs773741525
|
0.00002
|
|
NM_001005361.3(DNM2):c.1196+677G>A
|
rs763986985
|
0.00002
|
|
NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)
|
rs757121012
|
0.00002
|
|
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236
|
0.00002
|
|
NM_001005361.3(DNM2):c.2291+5G>A
|
rs747057769
|
0.00002
|
|
NM_001005361.3(DNM2):c.293G>A (p.Arg98Gln)
|
rs2513139772
|
0.00002
|
|
NM_001005388.3(NFASC):c.1594G>T (p.Val532Leu)
|
rs371036080
|
0.00002
|
|
NM_001005388.3(NFASC):c.2234A>C (p.Glu745Ala)
|
rs149329898
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser)
|
rs766529254
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val)
|
rs771315690
|
0.00002
|
|
NM_001025616.3(ARHGAP24):c.1477G>A (p.Gly493Arg)
|
rs146697529
|
0.00002
|
|
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
|
rs764009509
|
0.00002
|
|
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
|
rs750857784
|
0.00002
|
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
|
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)
|
rs748502827
|
0.00002
|
|
NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)
|
rs372517093
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu)
|
rs867268264
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met)
|
rs765278777
|
0.00002
|
|
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)
|
rs145046106
|
0.00002
|
|
NM_001041.4(SI):c.5109-3T>C
|
rs202110241
|
0.00002
|
|
NM_001042646.3(TRAK1):c.187G>A (p.Gly63Ser)
|
rs748182696
|
0.00002
|
|
NM_001042681.2(RERE):c.2741G>A (p.Arg914Gln)
|
rs781218645
|
0.00002
|
|
NM_001042681.2(RERE):c.3136C>T (p.Pro1046Ser)
|
rs977359991
|
0.00002
|
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00002
|
|
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)
|
rs587778537
|
0.00002
|
|
NM_001061.7(TBXAS1):c.824G>A (p.Arg275Gln)
|
rs201485922
|
0.00002
|
|
NM_001072.4(UGT1A6):c.622C>T (p.Arg208Ter)
|
rs571650145
|
0.00002
|
|
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp)
|
rs763756593
|
0.00002
|
|
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)
|
rs367709136
|
0.00002
|
|
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
|
rs754611085
|
0.00002
|
|
NM_001077525.3(MTMR14):c.200G>A (p.Arg67Gln)
|
rs772387395
|
0.00002
|
|
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg)
|
rs763737649
|
0.00002
|
|
NM_001080449.3(DNA2):c.1687G>A (p.Asp563Asn)
|
rs375082819
|
0.00002
|
|
NM_001080517.3(SETD5):c.2395G>A (p.Val799Ile)
|
rs1202232628
|
0.00002
|
|
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)
|
rs777956037
|
0.00002
|
|
NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)
|
rs144347678
|
0.00002
|
|
NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)
|
rs768099287
|
0.00002
|
|
NM_001098816.3(TENM4):c.1520C>T (p.Ala507Val)
|
rs981953897
|
0.00002
|
|
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)
|
rs766934634
|
0.00002
|
|
NM_001100913.3(PACS2):c.2098G>A (p.Glu700Lys)
|
rs587750276
|
0.00002
|
|
NM_001100913.3(PACS2):c.2626G>A (p.Val876Ile)
|
rs1254094658
|
0.00002
|
|
NM_001101426.4(CRPPA):c.1151C>T (p.Pro384Leu)
|
rs752622525
|
0.00002
|
|
NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys)
|
rs539440145
|
0.00002
|
|
NM_001106.4(ACVR2B):c.62G>A (p.Arg21His)
|
rs776754289
|
0.00002
|
|
NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp)
|
rs782434042
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4073G>A (p.Arg1358His)
|
rs782285127
|
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_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
|
rs780366617
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
|
rs2054687187
|
0.00002
|
|
NM_001127392.3(MYRF):c.3305C>T (p.Thr1102Ile)
|
rs771401900
|
0.00002
|
|
NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)
|
rs971997979
|
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_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys)
|
rs796053323
|
0.00002
|
|
NM_001130987.2(DYSF):c.1000C>T (p.Arg334Trp)
|
rs184771575
|
0.00002
|
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
|
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg)
|
rs372475742
|
0.00002
|
|
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val)
|
rs772008300
|
0.00002
|
|
NM_001130987.2(DYSF):c.2750T>A (p.Leu917His)
|
rs768637531
|
0.00002
|
|
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)
|
rs571178452
|
0.00002
|
|
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His)
|
rs765601966
|
0.00002
|
|
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)
|
rs747089235
|
0.00002
|
|
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)
|
rs535367520
|
0.00002
|
|
NM_001130987.2(DYSF):c.2902G>A (p.Val968Met)
|
rs568348073
|
0.00002
|
|
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)
|
rs754763074
|
0.00002
|
|
NM_001130987.2(DYSF):c.3332G>A (p.Arg1111His)
|
rs111488441
|
0.00002
|
|
NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln)
|
rs759192836
|
0.00002
|
|
NM_001130987.2(DYSF):c.3875T>C (p.Phe1292Ser)
|
rs893838515
|
0.00002
|
|
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)
|
rs535831045
|
0.00002
|
|
NM_001130987.2(DYSF):c.4127T>A (p.Val1376Glu)
|
rs2093761818
|
0.00002
|
|
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys)
|
rs749028996
|
0.00002
|
|
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)
|
rs766924837
|
0.00002
|
|
NM_001130987.2(DYSF):c.4322G>A (p.Arg1441His)
|
rs753156321
|
0.00002
|
|
NM_001130987.2(DYSF):c.5452G>A (p.Glu1818Lys)
|
rs764947245
|
0.00002
|
|
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr)
|
rs1254719758
|
0.00002
|
|
NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val)
|
rs758523519
|
0.00002
|
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.*6085G>A
|
rs751533162
|
0.00002
|
|
NM_001140.5(ALOX15):c.1180C>T (p.Arg394Ter)
|
rs752370680
|
0.00002
|
|
NM_001142800.2(EYS):c.6904G>C (p.Val2302Leu)
|
rs1177305926
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.1291A>T (p.Met431Leu)
|
rs933747730
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.1528C>T (p.Arg510Cys)
|
rs1309113939
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met)
|
rs759869189
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.226G>A (p.Ala76Thr)
|
rs1213053249
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.421C>T (p.Arg141Cys)
|
rs761486802
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.6151G>A (p.Ala2051Thr)
|
rs1238175184
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn)
|
rs781566440
|
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_001142864.4(PIEZO1):c.844G>C (p.Ala282Pro)
|
rs771736896
|
0.00002
|
|
NM_001143986.2(TLE6):c.349G>A (p.Glu117Lys)
|
rs762295089
|
0.00002
|
|
NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln)
|
rs373261456
|
0.00002
|
|
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)
|
rs1230410861
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
|
rs200410171
|
0.00002
|
|
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter)
|
rs752899664
|
0.00002
|
|
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)
|
rs762554883
|
0.00002
|
|
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys)
|
rs375142763
|
0.00002
|
|
NM_001164508.2(NEB):c.10280A>G (p.Lys3427Arg)
|
rs751093136
|
0.00002
|
|
NM_001164508.2(NEB):c.10492G>A (p.Gly3498Ser)
|
rs761974865
|
0.00002
|
|
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg)
|
rs1284970605
|
0.00002
|
|
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro)
|
rs1057523555
|
0.00002
|
|
NM_001164508.2(NEB):c.1512A>T (p.Gln504His)
|
rs774485087
|
0.00002
|
|
NM_001164508.2(NEB):c.16190G>A (p.Arg5397His)
|
rs1425847576
|
0.00002
|
|
NM_001164508.2(NEB):c.16663G>A (p.Asp5555Asn)
|
rs1413589274
|
0.00002
|
|
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys)
|
rs762876022
|
0.00002
|
|
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu)
|
rs759755890
|
0.00002
|
|
NM_001164508.2(NEB):c.16946C>T (p.Ser5649Leu)
|
rs1439605212
|
0.00002
|
|
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)
|
rs374867405
|
0.00002
|
|
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg)
|
rs369065324
|
0.00002
|
|
NM_001164508.2(NEB):c.17274C>T (p.Ile5758=)
|
rs372754098
|
0.00002
|
|
NM_001164508.2(NEB):c.17276A>G (p.Gln5759Arg)
|
rs772035924
|
0.00002
|
|
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn)
|
rs765593110
|
0.00002
|
|
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr)
|
rs1204919597
|
0.00002
|
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
|
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862
|
0.00002
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
0.00002
|
|
NM_001164508.2(NEB):c.22414G>A (p.Gly7472Ser)
|
rs376101302
|
0.00002
|
|
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn)
|
rs755199802
|
0.00002
|
|
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)
|
rs373852098
|
0.00002
|
|
NM_001164508.2(NEB):c.23326G>A (p.Val7776Ile)
|
rs779818222
|
0.00002
|
|
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu)
|
rs374029795
|
0.00002
|
|
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile)
|
rs182325166
|
0.00002
|
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
|
NM_001164508.2(NEB):c.24645G>A (p.Val8215=)
|
rs769610035
|
0.00002
|
|
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys)
|
rs748561855
|
0.00002
|
|
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys)
|
rs371027084
|
0.00002
|
|
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880
|
0.00002
|
|
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792
|
0.00002
|
|
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)
|
rs779673816
|
0.00002
|
|
NM_001164508.2(NEB):c.3923A>G (p.Asn1308Ser)
|
rs777962427
|
0.00002
|
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
|
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
|
rs915221327
|
0.00002
|
|
NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys)
|
rs769725005
|
0.00002
|
|
NM_001164508.2(NEB):c.6623C>T (p.Pro2208Leu)
|
rs766175179
|
0.00002
|
|
NM_001164508.2(NEB):c.6754C>T (p.Pro2252Ser)
|
rs368180456
|
0.00002
|
|
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile)
|
rs372132667
|
0.00002
|
|
NM_001164508.2(NEB):c.7282G>A (p.Gly2428Ser)
|
rs201690610
|
0.00002
|
|
NM_001164508.2(NEB):c.8860G>T (p.Ala2954Ser)
|
rs764538619
|
0.00002
|
|
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)
|
rs765940770
|
0.00002
|
|
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
|
rs759825205
|
0.00002
|
|
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys)
|
rs370572955
|
0.00002
|
|
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr)
|
rs186634689
|
0.00002
|
|
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
|
rs371560611
|
0.00002
|
|
NM_001182.5(ALDH7A1):c.16C>T (p.Arg6Cys)
|
rs781779462
|
0.00002
|
|
NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His)
|
rs781936333
|
0.00002
|
|
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp)
|
rs886058056
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
|
rs375132545
|
0.00002
|
|
NM_001195263.2(PDZD7):c.382T>C (p.Cys128Arg)
|
rs746178505
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met)
|
rs200263150
|
0.00002
|
|
NM_001199563.2(POPDC1):c.199A>G (p.Ile67Val)
|
rs969982946
|
0.00002
|
|
NM_001199563.2(POPDC1):c.771C>G (p.Ile257Met)
|
rs760299015
|
0.00002
|
|
NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu)
|
rs758128368
|
0.00002
|
|
NM_001205293.3(CACNA1E):c.6854G>A (p.Arg2285Gln)
|
rs775338609
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5768A>T (p.His1923Leu)
|
rs994955767
|
0.00002
|
|
NM_001206999.2(CIT):c.938A>G (p.Asn313Ser)
|
rs747401094
|
0.00002
|
|
NM_001242.5(CD27):c.514C>G (p.Arg172Gly)
|
rs760754193
|
0.00002
|
|
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
|
rs1385792025
|
0.00002
|
|
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
|
rs570385246
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
|
rs750309846
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met)
|
rs755107272
|
0.00002
|
|
NM_001256012.3(MYH10):c.5303G>A (p.Arg1768Gln)
|
rs765309529
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met)
|
rs775983100
|
0.00002
|
|
NM_001257291.2(SLC9A7):c.1999G>A (p.Gly667Arg)
|
rs762603592
|
0.00002
|
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
|
NM_001267550.2(TTN):c.100558A>G (p.Thr33520Ala)
|
rs879185434
|
0.00002
|
|
NM_001267550.2(TTN):c.100859G>C (p.Ser33620Thr)
|
rs369261182
|
0.00002
|
|
NM_001267550.2(TTN):c.101544A>C (p.Lys33848Asn)
|
rs774004640
|
0.00002
|
|
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)
|
rs780835388
|
0.00002
|
|
NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser)
|
rs761821275
|
0.00002
|
|
NM_001267550.2(TTN):c.102427A>T (p.Met34143Leu)
|
rs371226574
|
0.00002
|
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
|
NM_001267550.2(TTN):c.102826C>T (p.Arg34276Trp)
|
rs781432886
|
0.00002
|
|
NM_001267550.2(TTN):c.102965G>A (p.Ser34322Asn)
|
rs763242057
|
0.00002
|
|
NM_001267550.2(TTN):c.103484T>C (p.Leu34495Pro)
|
rs373479287
|
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.104290A>G (p.Ile34764Val)
|
rs373422596
|
0.00002
|
|
NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys)
|
rs373257372
|
0.00002
|
|
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)
|
rs727504918
|
0.00002
|
|
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe)
|
rs772718460
|
0.00002
|
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
|
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu)
|
rs753984036
|
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.14188C>T (p.Arg4730Trp)
|
rs749719834
|
0.00002
|
|
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val)
|
rs763092484
|
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.14866G>C (p.Gly4956Arg)
|
rs768749718
|
0.00002
|
|
NM_001267550.2(TTN):c.15070G>A (p.Glu5024Lys)
|
rs750031855
|
0.00002
|
|
NM_001267550.2(TTN):c.15175G>A (p.Asp5059Asn)
|
rs770418360
|
0.00002
|
|
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp)
|
rs371044267
|
0.00002
|
|
NM_001267550.2(TTN):c.15965C>T (p.Ser5322Leu)
|
rs758182029
|
0.00002
|
|
NM_001267550.2(TTN):c.16037C>T (p.Thr5346Ile)
|
rs1010676727
|
0.00002
|
|
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr)
|
rs375417155
|
0.00002
|
|
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala)
|
rs377023302
|
0.00002
|
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
|
NM_001267550.2(TTN):c.17230G>A (p.Gly5744Arg)
|
rs371788854
|
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.19798A>G (p.Thr6600Ala)
|
rs530353051
|
0.00002
|
|
NM_001267550.2(TTN):c.20321A>G (p.Lys6774Arg)
|
rs776943120
|
0.00002
|
|
NM_001267550.2(TTN):c.20329G>C (p.Glu6777Gln)
|
rs761148465
|
0.00002
|
|
NM_001267550.2(TTN):c.20973C>G (p.Ser6991Arg)
|
rs778559152
|
0.00002
|
|
NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr)
|
rs773611280
|
0.00002
|
|
NM_001267550.2(TTN):c.21383G>A (p.Arg7128His)
|
rs768531006
|
0.00002
|
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
|
NM_001267550.2(TTN):c.21790A>C (p.Lys7264Gln)
|
rs776072028
|
0.00002
|
|
NM_001267550.2(TTN):c.21859C>G (p.Leu7287Val)
|
rs754054875
|
0.00002
|
|
NM_001267550.2(TTN):c.21970T>G (p.Tyr7324Asp)
|
rs765632650
|
0.00002
|
|
NM_001267550.2(TTN):c.22244G>A (p.Arg7415His)
|
rs868753255
|
0.00002
|
|
NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val)
|
rs1191020503
|
0.00002
|
|
NM_001267550.2(TTN):c.22601T>A (p.Phe7534Tyr)
|
rs551521928
|
0.00002
|
|
NM_001267550.2(TTN):c.22931G>A (p.Arg7644Gln)
|
rs766675017
|
0.00002
|
|
NM_001267550.2(TTN):c.24161T>A (p.Ile8054Lys)
|
rs745362139
|
0.00002
|
|
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser)
|
rs753025964
|
0.00002
|
|
NM_001267550.2(TTN):c.24681A>G (p.Ile8227Met)
|
rs1300167182
|
0.00002
|
|
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp)
|
rs200572298
|
0.00002
|
|
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu)
|
rs761929830
|
0.00002
|
|
NM_001267550.2(TTN):c.25801G>T (p.Val8601Phe)
|
rs184812963
|
0.00002
|
|
NM_001267550.2(TTN):c.25956A>G (p.Ile8652Met)
|
rs760452917
|
0.00002
|
|
NM_001267550.2(TTN):c.25994A>G (p.Glu8665Gly)
|
rs1226104343
|
0.00002
|
|
NM_001267550.2(TTN):c.26179G>A (p.Val8727Ile)
|
rs544958705
|
0.00002
|
|
NM_001267550.2(TTN):c.2618C>T (p.Ala873Val)
|
rs560634372
|
0.00002
|
|
NM_001267550.2(TTN):c.2626A>G (p.Thr876Ala)
|
rs1337556254
|
0.00002
|
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00002
|
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
|
NM_001267550.2(TTN):c.26932G>C (p.Asp8978His)
|
rs773744166
|
0.00002
|
|
NM_001267550.2(TTN):c.26979T>G (p.Ser8993Arg)
|
rs531162850
|
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.28142C>G (p.Ser9381Cys)
|
rs763983068
|
0.00002
|
|
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys)
|
rs778573156
|
0.00002
|
|
NM_001267550.2(TTN):c.2848A>G (p.Lys950Glu)
|
rs367559160
|
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.2935G>A (p.Glu979Lys)
|
rs778333259
|
0.00002
|
|
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr)
|
rs781737736
|
0.00002
|
|
NM_001267550.2(TTN):c.30748C>T (p.Arg10250Cys)
|
rs796799742
|
0.00002
|
|
NM_001267550.2(TTN):c.31243G>A (p.Glu10415Lys)
|
rs756810202
|
0.00002
|
|
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)
|
rs762662455
|
0.00002
|
|
NM_001267550.2(TTN):c.32443A>G (p.Lys10815Glu)
|
rs1407344172
|
0.00002
|
|
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn)
|
rs370317568
|
0.00002
|
|
NM_001267550.2(TTN):c.33731C>T (p.Pro11244Leu)
|
rs760545521
|
0.00002
|
|
NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys)
|
rs763380355
|
0.00002
|
|
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys)
|
rs765827814
|
0.00002
|
|
NM_001267550.2(TTN):c.343G>A (p.Val115Met)
|
rs564777385
|
0.00002
|
|
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr)
|
rs752662529
|
0.00002
|
|
NM_001267550.2(TTN):c.39139C>T (p.Pro13047Ser)
|
rs761682559
|
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.3988C>T (p.Arg1330Cys)
|
rs771294359
|
0.00002
|
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
|
NM_001267550.2(TTN):c.40546G>T (p.Val13516Phe)
|
rs757535628
|
0.00002
|
|
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)
|
rs369178648
|
0.00002
|
|
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)
|
rs746667196
|
0.00002
|
|
NM_001267550.2(TTN):c.41980C>T (p.Pro13994Ser)
|
rs201232835
|
0.00002
|
|
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr)
|
rs777451130
|
0.00002
|
|
NM_001267550.2(TTN):c.42473C>T (p.Thr14158Ile)
|
rs373227762
|
0.00002
|
|
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)
|
rs754182768
|
0.00002
|
|
NM_001267550.2(TTN):c.42834G>C (p.Lys14278Asn)
|
rs754085836
|
0.00002
|
|
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)
|
rs778576436
|
0.00002
|
|
NM_001267550.2(TTN):c.44965A>G (p.Ile14989Val)
|
rs755040094
|
0.00002
|
|
NM_001267550.2(TTN):c.45185T>C (p.Ile15062Thr)
|
rs373627060
|
0.00002
|
|
NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys)
|
rs397517579
|
0.00002
|
|
NM_001267550.2(TTN):c.45872G>A (p.Ser15291Asn)
|
rs2471016748
|
0.00002
|
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
|
NM_001267550.2(TTN):c.46409G>A (p.Arg15470His)
|
rs769044716
|
0.00002
|
|
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu)
|
rs1553713980
|
0.00002
|
|
NM_001267550.2(TTN):c.46985G>A (p.Arg15662His)
|
rs1457971549
|
0.00002
|
|
NM_001267550.2(TTN):c.46G>A (p.Val16Met)
|
rs756212082
|
0.00002
|
|
NM_001267550.2(TTN):c.47429C>T (p.Thr15810Ile)
|
rs748816848
|
0.00002
|
|
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile)
|
rs367769671
|
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.49060C>T (p.Pro16354Ser)
|
rs747402071
|
0.00002
|
|
NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp)
|
rs767768313
|
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.51067G>A (p.Gly17023Arg)
|
rs745424139
|
0.00002
|
|
NM_001267550.2(TTN):c.51500C>T (p.Thr17167Ile)
|
rs749322226
|
0.00002
|
|
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln)
|
rs775700218
|
0.00002
|
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
|
NM_001267550.2(TTN):c.54493C>T (p.Arg18165Cys)
|
rs377575788
|
0.00002
|
|
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)
|
rs574313741
|
0.00002
|
|
NM_001267550.2(TTN):c.544G>A (p.Val182Ile)
|
rs370941860
|
0.00002
|
|
NM_001267550.2(TTN):c.55390A>C (p.Lys18464Gln)
|
rs565100137
|
0.00002
|
|
NM_001267550.2(TTN):c.57719G>A (p.Arg19240Gln)
|
rs535940583
|
0.00002
|
|
NM_001267550.2(TTN):c.58491G>A (p.Met19497Ile)
|
rs752006805
|
0.00002
|
|
NM_001267550.2(TTN):c.58813G>A (p.Asp19605Asn)
|
rs374833667
|
0.00002
|
|
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu)
|
rs769129424
|
0.00002
|
|
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)
|
rs201457934
|
0.00002
|
|
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)
|
rs751863629
|
0.00002
|
|
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)
|
rs878993043
|
0.00002
|
|
NM_001267550.2(TTN):c.60947A>C (p.Lys20316Thr)
|
rs554673070
|
0.00002
|
|
NM_001267550.2(TTN):c.61040C>A (p.Ala20347Asp)
|
rs1372719064
|
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.62651G>T (p.Cys20884Phe)
|
rs773806020
|
0.00002
|
|
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu)
|
rs767322897
|
0.00002
|
|
NM_001267550.2(TTN):c.63521T>C (p.Ile21174Thr)
|
rs1319446307
|
0.00002
|
|
NM_001267550.2(TTN):c.63613A>G (p.Lys21205Glu)
|
rs794727409
|
0.00002
|
|
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)
|
rs748901968
|
0.00002
|
|
NM_001267550.2(TTN):c.64346T>C (p.Val21449Ala)
|
rs748888420
|
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.66508C>T (p.Arg22170Cys)
|
rs377642110
|
0.00002
|
|
NM_001267550.2(TTN):c.66553G>A (p.Gly22185Ser)
|
rs560206502
|
0.00002
|
|
NM_001267550.2(TTN):c.66902A>G (p.Asn22301Ser)
|
rs772823241
|
0.00002
|
|
NM_001267550.2(TTN):c.6767C>T (p.Thr2256Met)
|
rs780758720
|
0.00002
|
|
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)
|
rs775579156
|
0.00002
|
|
NM_001267550.2(TTN):c.67958T>A (p.Phe22653Tyr)
|
rs749873981
|
0.00002
|
|
NM_001267550.2(TTN):c.68215C>T (p.His22739Tyr)
|
rs993803663
|
0.00002
|
|
NM_001267550.2(TTN):c.68642G>A (p.Arg22881Gln)
|
rs772700244
|
0.00002
|
|
NM_001267550.2(TTN):c.68818G>A (p.Glu22940Lys)
|
rs1443126035
|
0.00002
|
|
NM_001267550.2(TTN):c.69083C>T (p.Thr23028Met)
|
rs754823057
|
0.00002
|
|
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr)
|
rs765930349
|
0.00002
|
|
NM_001267550.2(TTN):c.69335T>G (p.Phe23112Cys)
|
rs1379413245
|
0.00002
|
|
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys)
|
rs750101152
|
0.00002
|
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
|
NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys)
|
rs749744742
|
0.00002
|
|
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)
|
rs1482776876
|
0.00002
|
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00002
|
|
NM_001267550.2(TTN):c.71032C>G (p.Gln23678Glu)
|
rs778124569
|
0.00002
|
|
NM_001267550.2(TTN):c.71234C>A (p.Thr23745Asn)
|
rs767956788
|
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.72149A>G (p.Glu24050Gly)
|
rs771209223
|
0.00002
|
|
NM_001267550.2(TTN):c.72667C>T (p.Pro24223Ser)
|
rs760890661
|
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.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00002
|
|
NM_001267550.2(TTN):c.75011G>A (p.Arg25004His)
|
rs909041164
|
0.00002
|
|
NM_001267550.2(TTN):c.75746G>A (p.Arg25249His)
|
rs773286477
|
0.00002
|
|
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly)
|
rs767430531
|
0.00002
|
|
NM_001267550.2(TTN):c.76858A>G (p.Ile25620Val)
|
rs773656560
|
0.00002
|
|
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His)
|
rs376051922
|
0.00002
|
|
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser)
|
rs781248790
|
0.00002
|
|
NM_001267550.2(TTN):c.79105G>A (p.Val26369Ile)
|
rs778729064
|
0.00002
|
|
NM_001267550.2(TTN):c.79267G>T (p.Val26423Leu)
|
rs1706066147
|
0.00002
|
|
NM_001267550.2(TTN):c.80041C>T (p.Leu26681Phe)
|
rs555058372
|
0.00002
|
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00002
|
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
|
NM_001267550.2(TTN):c.81982A>G (p.Thr27328Ala)
|
rs376541881
|
0.00002
|
|
NM_001267550.2(TTN):c.82091T>C (p.Val27364Ala)
|
rs981687121
|
0.00002
|
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
|
NM_001267550.2(TTN):c.83387C>T (p.Ala27796Val)
|
rs368241592
|
0.00002
|
|
NM_001267550.2(TTN):c.84193G>C (p.Asp28065His)
|
rs764469970
|
0.00002
|
|
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val)
|
rs886042586
|
0.00002
|
|
NM_001267550.2(TTN):c.85072A>T (p.Met28358Leu)
|
rs368069666
|
0.00002
|
|
NM_001267550.2(TTN):c.8509A>T (p.Ser2837Cys)
|
rs202024134
|
0.00002
|
|
NM_001267550.2(TTN):c.85309G>A (p.Gly28437Ser)
|
rs757770952
|
0.00002
|
|
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)
|
rs757653038
|
0.00002
|
|
NM_001267550.2(TTN):c.85471C>T (p.Arg28491Cys)
|
rs746090724
|
0.00002
|
|
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala)
|
rs369907507
|
0.00002
|
|
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp)
|
rs754025981
|
0.00002
|
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00002
|
|
NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys)
|
rs757848764
|
0.00002
|
|
NM_001267550.2(TTN):c.87253C>T (p.Leu29085Phe)
|
rs376026291
|
0.00002
|
|
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His)
|
rs749606240
|
0.00002
|
|
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)
|
rs727503551
|
0.00002
|
|
NM_001267550.2(TTN):c.88121G>A (p.Arg29374Lys)
|
rs878969198
|
0.00002
|
|
NM_001267550.2(TTN):c.88135G>A (p.Asp29379Asn)
|
rs1285049057
|
0.00002
|
|
NM_001267550.2(TTN):c.88226G>A (p.Arg29409His)
|
rs753223608
|
0.00002
|
|
NM_001267550.2(TTN):c.88684G>A (p.Gly29562Ser)
|
rs760886476
|
0.00002
|
|
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser)
|
rs773875566
|
0.00002
|
|
NM_001267550.2(TTN):c.89044A>C (p.Lys29682Gln)
|
rs370563246
|
0.00002
|
|
NM_001267550.2(TTN):c.89054A>G (p.Lys29685Arg)
|
rs773157007
|
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.91105A>C (p.Ile30369Leu)
|
rs768987204
|
0.00002
|
|
NM_001267550.2(TTN):c.91193G>A (p.Arg30398His)
|
rs761570672
|
0.00002
|
|
NM_001267550.2(TTN):c.91736T>C (p.Leu30579Pro)
|
rs765022890
|
0.00002
|
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00002
|
|
NM_001267550.2(TTN):c.91774G>A (p.Asp30592Asn)
|
rs767435344
|
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.94330T>C (p.Trp31444Arg)
|
rs533447102
|
0.00002
|
|
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr)
|
rs751714990
|
0.00002
|
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
|
NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn)
|
rs1385851793
|
0.00002
|
|
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu)
|
rs755717335
|
0.00002
|
|
NM_001267550.2(TTN):c.96854T>C (p.Val32285Ala)
|
rs878898914
|
0.00002
|
|
NM_001267550.2(TTN):c.97067A>C (p.Glu32356Ala)
|
rs368184712
|
0.00002
|
|
NM_001267550.2(TTN):c.97226T>C (p.Ile32409Thr)
|
rs772914223
|
0.00002
|
|
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)
|
rs760676361
|
0.00002
|
|
NM_001267550.2(TTN):c.97634G>A (p.Arg32545Gln)
|
rs754540983
|
0.00002
|
|
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser)
|
rs374521620
|
0.00002
|
|
NM_001267550.2(TTN):c.98020C>T (p.Arg32674Cys)
|
rs374471511
|
0.00002
|
|
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
|
rs762387276
|
0.00002
|
|
NM_001267550.2(TTN):c.98342G>A (p.Cys32781Tyr)
|
rs1252559965
|
0.00002
|
|
NM_001267550.2(TTN):c.98432G>A (p.Arg32811His)
|
rs751450347
|
0.00002
|
|
NM_001267550.2(TTN):c.98453G>A (p.Arg32818Lys)
|
rs794729551
|
0.00002
|
|
NM_001267550.2(TTN):c.98501A>C (p.Glu32834Ala)
|
rs2154140011
|
0.00002
|
|
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys)
|
rs764276622
|
0.00002
|
|
NM_001267550.2(TTN):c.98861C>T (p.Thr32954Ile)
|
rs372126622
|
0.00002
|
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
|
NM_001270.4(CHD1):c.788T>C (p.Val263Ala)
|
rs757159576
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10783G>A (p.Glu3595Lys)
|
rs762731249
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
|
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
|
rs762388949
|
0.00002
|
|
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys)
|
rs771452777
|
0.00002
|
|
NM_001289808.2(CRYAB):c.202A>T (p.Met68Leu)
|
rs1291858452
|
0.00002
|
|
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)
|
rs1592506005
|
0.00002
|
|
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys)
|
rs186242388
|
0.00002
|
|
NM_001291303.3(FAT4):c.4471C>T (p.Leu1491Phe)
|
rs374317713
|
0.00002
|
|
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys)
|
rs754033112
|
0.00002
|
|
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile)
|
rs1230824209
|
0.00002
|
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969
|
0.00002
|
|
NM_001304438.2(TMEM132E):c.1705G>A (p.Glu569Lys)
|
rs369653624
|
0.00002
|
|
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met)
|
rs750659716
|
0.00002
|
|
NM_001318852.2(MAPK8IP3):c.2647G>A (p.Ala883Thr)
|
rs752710188
|
0.00002
|
|
NM_001318852.2(MAPK8IP3):c.3394G>A (p.Val1132Ile)
|
rs758820793
|
0.00002
|
|
NM_001318852.2(MAPK8IP3):c.3826G>A (p.Glu1276Lys)
|
rs750159450
|
0.00002
|
|
NM_001319074.4(RAX2):c.251G>A (p.Arg84His)
|
rs573043030
|
0.00002
|
|
NM_001348716.2(KDM6B):c.1069G>A (p.Gly357Arg)
|
rs1033760690
|
0.00002
|
|
NM_001348768.2(HECW2):c.2824C>T (p.Arg942Cys)
|
rs773920231
|
0.00002
|
|
NM_001349338.3(FOXP1):c.1833G>T (p.Glu611Asp)
|
rs777876809
|
0.00002
|
|
NM_001352027.3(PHF21A):c.1307A>G (p.Asn436Ser)
|
rs759521447
|
0.00002
|
|
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
|
rs141963819
|
0.00002
|
|
NM_001353812.2(ATP11C):c.3056C>T (p.Thr1019Met)
|
rs750778379
|
0.00002
|
|
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys)
|
rs755636829
|
0.00002
|
|
NM_001355436.2(SPTB):c.2291G>A (p.Arg764Gln)
|
rs754670202
|
0.00002
|
|
NM_001355436.2(SPTB):c.2912C>T (p.Thr971Met)
|
rs138556050
|
0.00002
|
|
NM_001355436.2(SPTB):c.2974G>A (p.Ala992Thr)
|
rs776814615
|
0.00002
|
|
NM_001355436.2(SPTB):c.3781G>A (p.Glu1261Lys)
|
rs746933929
|
0.00002
|
|
NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln)
|
rs199780681
|
0.00002
|
|
NM_001355436.2(SPTB):c.4247G>A (p.Arg1416Gln)
|
rs777704033
|
0.00002
|
|
NM_001355436.2(SPTB):c.4936C>T (p.Arg1646Trp)
|
rs111849078
|
0.00002
|
|
NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro)
|
rs929734499
|
0.00002
|
|
NM_001355436.2(SPTB):c.6937G>A (p.Gly2313Ser)
|
rs536702051
|
0.00002
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
rs782754619
|
0.00002
|
|
NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)
|
rs753600344
|
0.00002
|
|
NM_001365088.1(SLC12A6):c.214A>G (p.Thr72Ala)
|
rs767457252
|
0.00002
|
|
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys)
|
rs761561411
|
0.00002
|
|
NM_001365276.2(TNXB):c.4426C>T (p.Arg1476Cys)
|
rs758078005
|
0.00002
|
|
NM_001365276.2(TNXB):c.6820G>C (p.Val2274Leu)
|
rs777941950
|
0.00002
|
|
NM_001365536.1(SCN9A):c.2649C>T (p.Val883=)
|
rs200618289
|
0.00002
|
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00002
|
|
NM_001365999.1(SZT2):c.1102C>T (p.Arg368Cys)
|
rs753741740
|
0.00002
|
|
NM_001365999.1(SZT2):c.5285G>A (p.Arg1762His)
|
rs779573906
|
0.00002
|
|
NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met)
|
rs773129616
|
0.00002
|
|
NM_001366521.1(ATP2B1):c.758C>G (p.Ser253Cys)
|
rs765489529
|
0.00002
|
|
NM_001366722.1(GRIP1):c.421G>A (p.Val141Met)
|
rs199791738
|
0.00002
|
|
NM_001367498.1(CNTNAP5):c.292G>A (p.Gly98Arg)
|
rs373323066
|
0.00002
|
|
NM_001367561.1(DOCK7):c.349A>G (p.Ile117Val)
|
rs551984218
|
0.00002
|
|
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
|
rs1345382649
|
0.00002
|
|
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)
|
rs886881362
|
0.00002
|
|
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe)
|
rs777220099
|
0.00002
|
|
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
|
rs771894092
|
0.00002
|
|
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
|
rs749649102
|
0.00002
|
|
NM_001370100.5(ZMYND11):c.1370C>T (p.Thr457Ile)
|
rs1053967935
|
0.00002
|
|
NM_001370466.1(NOD2):c.878A>G (p.Gln293Arg)
|
rs201591164
|
0.00002
|
|
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
|
rs775067629
|
0.00002
|
|
NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys)
|
rs760076793
|
0.00002
|
|
NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu)
|
rs762339373
|
0.00002
|
|
NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)
|
rs745852521
|
0.00002
|
|
NM_001371928.1(AHDC1):c.2750C>T (p.Ala917Val)
|
rs199652856
|
0.00002
|
|
NM_001371928.1(AHDC1):c.58G>A (p.Asp20Asn)
|
rs747136174
|
0.00002
|
|
NM_001371986.1(UNC80):c.9418C>T (p.Arg3140Cys)
|
rs1212094531
|
0.00002
|
|
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
|
rs370831167
|
0.00002
|
|
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala)
|
rs9368354
|
0.00002
|
|
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)
|
rs767293145
|
0.00002
|
|
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)
|
rs761093701
|
0.00002
|
|
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)
|
rs772615576
|
0.00002
|
|
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val)
|
rs777513652
|
0.00002
|
|
NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)
|
rs139181534
|
0.00002
|
|
NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln)
|
rs745924035
|
0.00002
|
|
NM_001375524.1(TRRAP):c.1844T>C (p.Ile615Thr)
|
rs563421471
|
0.00002
|
|
NM_001375524.1(TRRAP):c.625A>G (p.Thr209Ala)
|
rs782220332
|
0.00002
|
|
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr)
|
rs1028234458
|
0.00002
|
|
NM_001375524.1(TRRAP):c.8183T>C (p.Leu2728Pro)
|
rs771377190
|
0.00002
|
|
NM_001375808.2(LPIN2):c.1074G>A (p.Met358Ile)
|
rs750095569
|
0.00002
|
|
NM_001375808.2(LPIN2):c.361C>T (p.Pro121Ser)
|
rs142161739
|
0.00002
|
|
NM_001375808.2(LPIN2):c.595T>C (p.Ser199Pro)
|
rs146632748
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=)
|
rs867202471
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.11531C>T (p.Pro3844Leu)
|
rs749946187
|
0.00002
|
|
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
|
rs200826045
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.1037A>G (p.Tyr346Cys)
|
rs562024274
|
0.00002
|
|
NM_001377265.1(MAPT):c.1837C>T (p.Arg613Trp)
|
rs374286863
|
0.00002
|
|
NM_001377299.1(NDUFS2):c.1004A>T (p.Glu335Val)
|
rs569129514
|
0.00002
|
|
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp)
|
rs754019798
|
0.00002
|
|
NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr)
|
rs780202686
|
0.00002
|
|
NM_001378183.1(PIEZO2):c.8491C>T (p.Arg2831Ter)
|
rs753034565
|
0.00002
|
|
NM_001378414.1(HDAC4):c.2575G>A (p.Asp859Asn)
|
rs553559719
|
0.00002
|
|
NM_001378418.1(TCF20):c.34G>A (p.Gly12Arg)
|
rs568221069
|
0.00002
|
|
NM_001378418.1(TCF20):c.3577C>T (p.Arg1193Trp)
|
rs367933043
|
0.00002
|
|
NM_001378418.1(TCF20):c.5344G>A (p.Ala1782Thr)
|
rs745665261
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.-18-2263T>C
|
rs577124855
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
|
NM_001379029.1(CERT1):c.238G>A (p.Asp80Asn)
|
rs1444182109
|
0.00002
|
|
NM_001379081.2(FREM1):c.1654G>A (p.Ala552Thr)
|
rs763640629
|
0.00002
|
|
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)
|
rs782731165
|
0.00002
|
|
NM_001379451.1(BCORL1):c.2467C>T (p.Pro823Ser)
|
rs868434655
|
0.00002
|
|
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)
|
rs747825322
|
0.00002
|
|
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)
|
rs764519878
|
0.00002
|
|
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
|
rs745872044
|
0.00002
|
|
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)
|
rs781737308
|
0.00002
|
|
NM_001384125.1(BLTP1):c.11650C>T (p.Arg3884Trp)
|
rs369865345
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3878G>A (p.Arg1293Gln)
|
rs536702239
|
0.00002
|
|
NM_001386125.1(OBSCN):c.3040A>T (p.Thr1014Ser)
|
rs779774732
|
0.00002
|
|
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met)
|
rs747834756
|
0.00002
|
|
NM_001394998.1(TANC2):c.4547G>A (p.Arg1516Gln)
|
rs748768315
|
0.00002
|
|
NM_001395656.1(ROBO2):c.1312A>G (p.Thr438Ala)
|
rs779395913
|
0.00002
|
|
NM_001407.3(CELSR3):c.1624G>T (p.Ala542Ser)
|
rs543367014
|
0.00002
|
|
NM_001414.4(EIF2B1):c.385G>A (p.Ala129Thr)
|
rs755256108
|
0.00002
|
|
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)
|
rs956913310
|
0.00002
|
|
NM_001457.4(FLNB):c.1748G>A (p.Gly583Glu)
|
rs372430835
|
0.00002
|
|
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile)
|
rs201533113
|
0.00002
|
|
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
0.00002
|
|
NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser)
|
rs369747694
|
0.00002
|
|
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly)
|
rs1164296903
|
0.00002
|
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
|
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys)
|
rs373514748
|
0.00002
|
|
NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)
|
rs766023596
|
0.00002
|
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
|
NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys)
|
rs535109443
|
0.00002
|
|
NM_001458.5(FLNC):c.3649A>T (p.Ser1217Cys)
|
rs759597112
|
0.00002
|
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
|
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)
|
rs766081127
|
0.00002
|
|
NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr)
|
rs1161262954
|
0.00002
|
|
NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys)
|
rs761793156
|
0.00002
|
|
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val)
|
rs540112341
|
0.00002
|
|
NM_001458.5(FLNC):c.5746G>A (p.Val1916Met)
|
rs763551371
|
0.00002
|
|
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro)
|
rs745842738
|
0.00002
|
|
NM_001458.5(FLNC):c.6209-3C>G
|
rs896971028
|
0.00002
|
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
|
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)
|
rs191224002
|
0.00002
|
|
NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys)
|
rs373691962
|
0.00002
|
|
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
0.00002
|
|
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)
|
rs570010538
|
0.00002
|
|
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
|
rs564074121
|
0.00002
|
|
NM_001551.3(IGBP1):c.797C>T (p.Thr266Met)
|
rs781617904
|
0.00002
|
|
NM_001555.5(IGSF1):c.3813T>G (p.Val1271=)
|
rs771084558
|
0.00002
|
|
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)
|
rs762373456
|
0.00002
|
|
NM_001605.3(AARS1):c.80A>G (p.His27Arg)
|
rs77753666
|
0.00002
|
|
NM_001606.5(ABCA2):c.2710G>A (p.Ala904Thr)
|
rs376136854
|
0.00002
|
|
NM_001673.5(ASNS):c.1019G>A (p.Arg340His)
|
rs1360484422
|
0.00002
|
|
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
|
rs148157596
|
0.00002
|
|
NM_001734.5(C1S):c.394A>G (p.Ile132Val)
|
rs1198867920
|
0.00002
|
|
NM_001734.5(C1S):c.823G>T (p.Asp275Tyr)
|
rs1297541830
|
0.00002
|
|
NM_001759.4(CCND2):c.494G>A (p.Arg165His)
|
rs759672856
|
0.00002
|
|
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)
|
rs1924456614
|
0.00002
|
|
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu)
|
rs1042357480
|
0.00002
|
|
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser)
|
rs767349582
|
0.00002
|
|
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)
|
rs757163211
|
0.00002
|
|
NM_001845.6(COL4A1):c.3313G>T (p.Val1105Phe)
|
rs759578991
|
0.00002
|
|
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
|
rs752903694
|
0.00002
|
|
NM_001848.3(COL6A1):c.2227G>A (p.Val743Met)
|
rs760236532
|
0.00002
|
|
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)
|
rs774657642
|
0.00002
|
|
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
|
rs748327110
|
0.00002
|
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
|
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met)
|
rs751999785
|
0.00002
|
|
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
|
rs369764291
|
0.00002
|
|
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)
|
rs1309822720
|
0.00002
|
|
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)
|
rs747665716
|
0.00002
|
|
NM_001848.3(COL6A1):c.403A>C (p.Lys135Gln)
|
rs774261368
|
0.00002
|
|
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg)
|
rs754667407
|
0.00002
|
|
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)
|
rs372199631
|
0.00002
|
|
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)
|
rs950115468
|
0.00002
|
|
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)
|
rs767205402
|
0.00002
|
|
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)
|
rs757230924
|
0.00002
|
|
NM_001849.4(COL6A2):c.1270-3C>T
|
rs1488223613
|
0.00002
|
|
NM_001849.4(COL6A2):c.1315G>A (p.Gly439Ser)
|
rs865842163
|
0.00002
|
|
NM_001849.4(COL6A2):c.1797G>C (p.Arg599Ser)
|
rs370858447
|
0.00002
|
|
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro)
|
rs990733473
|
0.00002
|
|
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
|
rs554113319
|
0.00002
|
|
NM_001849.4(COL6A2):c.2269A>G (p.Ile757Val)
|
rs145697067
|
0.00002
|
|
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu)
|
rs199736749
|
0.00002
|
|
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)
|
rs759293889
|
0.00002
|
|
NM_001849.4(COL6A2):c.2349G>A (p.Val783=)
|
rs886044418
|
0.00002
|
|
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)
|
rs886057168
|
0.00002
|
|
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)
|
rs532656197
|
0.00002
|
|
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile)
|
rs751410120
|
0.00002
|
|
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)
|
rs760509198
|
0.00002
|
|
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)
|
rs760263812
|
0.00002
|
|
NM_001849.4(COL6A2):c.901-3C>T
|
rs112317259
|
0.00002
|
|
NM_001849.4(COL6A2):c.954+5G>C
|
rs750755566
|
0.00002
|
|
NM_001854.4(COL11A1):c.4031C>T (p.Pro1344Leu)
|
rs528959090
|
0.00002
|
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00002
|
|
NM_001876.4(CPT1A):c.1252G>A (p.Val418Met)
|
rs756674071
|
0.00002
|
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
|
NM_001927.4(DES):c.295C>G (p.Gln99Glu)
|
rs794728992
|
0.00002
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
0.00002
|
|
NM_001940.4(ATN1):c.1265A>G (p.Asn422Ser)
|
rs781987472
|
0.00002
|
|
NM_001982.4(ERBB3):c.121G>A (p.Asp41Asn)
|
rs374953448
|
0.00002
|
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00002
|
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00002
|
|
NM_002025.4(AFF2):c.1735G>A (p.Val579Ile)
|
rs1455195217
|
0.00002
|
|
NM_002047.4(GARS1):c.1533T>C (p.Asp511=)
|
rs1388554818
|
0.00002
|
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
|
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)
|
rs772459742
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
|
rs373649545
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser)
|
rs201964221
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys)
|
rs374185933
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val)
|
rs754473710
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.549C>A (p.His183Gln)
|
rs1250393290
|
0.00002
|
|
NM_002206.3(ITGA7):c.1673C>T (p.Ser558Leu)
|
rs548594784
|
0.00002
|
|
NM_002206.3(ITGA7):c.1982C>T (p.Thr661Met)
|
rs749679578
|
0.00002
|
|
NM_002206.3(ITGA7):c.1994C>T (p.Pro665Leu)
|
rs544984385
|
0.00002
|
|
NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe)
|
rs137872276
|
0.00002
|
|
NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu)
|
rs763739936
|
0.00002
|
|
NM_002206.3(ITGA7):c.2722A>G (p.Ser908Gly)
|
rs771994045
|
0.00002
|
|
NM_002206.3(ITGA7):c.3254G>A (p.Arg1085Gln)
|
rs757690460
|
0.00002
|
|
NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys)
|
rs768823556
|
0.00002
|
|
NM_002206.3(ITGA7):c.571C>T (p.His191Tyr)
|
rs984817118
|
0.00002
|
|
NM_002206.3(ITGA7):c.5C>T (p.Ala2Val)
|
rs867336411
|
0.00002
|
|
NM_002206.3(ITGA7):c.911G>A (p.Arg304His)
|
rs768455364
|
0.00002
|
|
NM_002206.3(ITGA7):c.922G>A (p.Glu308Lys)
|
rs746101495
|
0.00002
|
|
NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr)
|
rs761321107
|
0.00002
|
|
NM_002332.3(LRP1):c.8999A>G (p.His3000Arg)
|
rs368737311
|
0.00002
|
|
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)
|
rs541585714
|
0.00002
|
|
NM_002465.4(MYBPC1):c.143G>T (p.Gly48Val)
|
rs751440092
|
0.00002
|
|
NM_002465.4(MYBPC1):c.272G>A (p.Gly91Glu)
|
rs2547464414
|
0.00002
|
|
NM_002465.4(MYBPC1):c.2788T>A (p.Ser930Thr)
|
rs1441602299
|
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_002471.4(MYH6):c.4349A>C (p.Asn1450Thr)
|
rs1005724382
|
0.00002
|
|
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys)
|
rs748924413
|
0.00002
|
|
NM_002576.5(PAK1):c.79G>A (p.Gly27Ser)
|
rs996658283
|
0.00002
|
|
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln)
|
rs756297578
|
0.00002
|
|
NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln)
|
rs1921825509
|
0.00002
|
|
NM_002662.5(PLD1):c.2134C>T (p.Arg712Trp)
|
rs750491194
|
0.00002
|
|
NM_002693.3(POLG):c.56T>C (p.Val19Ala)
|
rs770885465
|
0.00002
|
|
NM_002887.4(RARS1):c.1522C>A (p.Leu508Ile)
|
rs199566565
|
0.00002
|
|
NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys)
|
rs782791110
|
0.00002
|
|
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
|
rs377342041
|
0.00002
|
|
NM_002972.4(SBF1):c.2987A>G (p.Asp996Gly)
|
rs559790533
|
0.00002
|
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
|
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)
|
rs193920818
|
0.00002
|
|
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met)
|
rs764274123
|
0.00002
|
|
NM_003070.5(SMARCA2):c.1952C>A (p.Ser651Tyr)
|
rs769137549
|
0.00002
|
|
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His)
|
rs138760068
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)
|
rs1050237
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His)
|
rs867536416
|
0.00002
|
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
|
NM_003126.4(SPTA1):c.2842C>T (p.Leu948Phe)
|
rs780450572
|
0.00002
|
|
NM_003126.4(SPTA1):c.2927T>C (p.Val976Ala)
|
rs764659645
|
0.00002
|
|
NM_003126.4(SPTA1):c.3751G>A (p.Glu1251Lys)
|
rs771093658
|
0.00002
|
|
NM_003126.4(SPTA1):c.391G>A (p.Ala131Thr)
|
rs199500418
|
0.00002
|
|
NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
|
rs761757457
|
0.00002
|
|
NM_003126.4(SPTA1):c.5029G>A (p.Gly1677Arg)
|
rs771033064
|
0.00002
|
|
NM_003126.4(SPTA1):c.6600+5G>C
|
rs1462060431
|
0.00002
|
|
NM_003128.3(SPTBN1):c.1328G>A (p.Arg443His)
|
rs772259760
|
0.00002
|
|
NM_003200.5(TCF3):c.1720C>T (p.Arg574Cys)
|
rs370362031
|
0.00002
|
|
NM_003235.5(TG):c.2239T>A (p.Ser747Thr)
|
rs747501859
|
0.00002
|
|
NM_003235.5(TG):c.8071C>T (p.Arg2691Cys)
|
rs764239765
|
0.00002
|
|
NM_003283.6(TNNT1):c.386C>T (p.Ala129Val)
|
rs760891005
|
0.00002
|
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
|
NM_003334.4(UBA1):c.1117G>A (p.Val373Met)
|
rs782354395
|
0.00002
|
|
NM_003361.4(UMOD):c.1459G>A (p.Val487Met)
|
rs375158769
|
0.00002
|
|
NM_003365.3(UQCRC1):c.376C>T (p.Arg126Trp)
|
rs1462813045
|
0.00002
|
|
NM_003482.4(KMT2D):c.2005T>C (p.Ser669Pro)
|
rs1432009191
|
0.00002
|
|
NM_003482.4(KMT2D):c.5431G>A (p.Gly1811Ser)
|
rs369800371
|
0.00002
|
|
NM_003587.5(DHX16):c.1138C>T (p.Pro380Ser)
|
rs572784064
|
0.00002
|
|
NM_003632.3(CNTNAP1):c.3568+10G>A
|
rs2053164874
|
0.00002
|
|
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)
|
rs45509691
|
0.00002
|
|
NM_003718.5(CDK13):c.1301G>A (p.Arg434His)
|
rs755212969
|
0.00002
|
|
NM_003737.4(DCHS1):c.8143G>A (p.Val2715Met)
|
rs757739092
|
0.00002
|
|
NM_003742.4(ABCB11):c.2135T>C (p.Leu712Ser)
|
rs372939910
|
0.00002
|
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn)
|
rs1319600530
|
0.00002
|
|
NM_003764.4(STX11):c.403C>T (p.Leu135Phe)
|
rs748690313
|
0.00002
|
|
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn)
|
rs772228438
|
0.00002
|
|
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)
|
rs567433223
|
0.00002
|
|
NM_003906.5(MCM3AP):c.5197G>T (p.Gly1733Cys)
|
rs564457343
|
0.00002
|
|
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)
|
rs764696852
|
0.00002
|
|
NM_003919.3(SGCE):c.521T>C (p.Met174Thr)
|
rs752764608
|
0.00002
|
|
NM_003919.3(SGCE):c.597A>G (p.Ile199Met)
|
rs777920643
|
0.00002
|
|
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)
|
rs1260084723
|
0.00002
|
|
NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly)
|
rs745766977
|
0.00002
|
|
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val)
|
rs367748290
|
0.00002
|
|
NM_004006.3(DMD):c.10660C>T (p.Arg3554Trp)
|
rs1427119360
|
0.00002
|
|
NM_004006.3(DMD):c.10683G>T (p.Glu3561Asp)
|
rs374369906
|
0.00002
|
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
|
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)
|
rs768532317
|
0.00002
|
|
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)
|
rs775115784
|
0.00002
|
|
NM_004006.3(DMD):c.1536C>A (p.His512Gln)
|
rs776446238
|
0.00002
|
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
|
NM_004006.3(DMD):c.1823C>T (p.Ala608Val)
|
rs189896732
|
0.00002
|
|
NM_004006.3(DMD):c.2337T>G (p.Asp779Glu)
|
rs758795722
|
0.00002
|
|
NM_004006.3(DMD):c.2818C>T (p.Pro940Ser)
|
rs1417425570
|
0.00002
|
|
NM_004006.3(DMD):c.3200T>C (p.Val1067Ala)
|
rs1569563754
|
0.00002
|
|
NM_004006.3(DMD):c.446G>A (p.Arg149His)
|
rs771307588
|
0.00002
|
|
NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu)
|
rs1040362862
|
0.00002
|
|
NM_004006.3(DMD):c.479C>A (p.Thr160Asn)
|
rs748752465
|
0.00002
|
|
NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn)
|
rs1369953471
|
0.00002
|
|
NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)
|
rs140575687
|
0.00002
|
|
NM_004006.3(DMD):c.6053T>G (p.Leu2018Arg)
|
rs768910735
|
0.00002
|
|
NM_004006.3(DMD):c.728T>C (p.Val243Ala)
|
rs753509616
|
0.00002
|
|
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)
|
rs765207227
|
0.00002
|
|
NM_004006.3(DMD):c.746A>G (p.Gln249Arg)
|
rs1212242832
|
0.00002
|
|
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)
|
rs1015097529
|
0.00002
|
|
NM_004006.3(DMD):c.8217+32388T>C
|
rs973062094
|
0.00002
|
|
NM_004006.3(DMD):c.8270A>G (p.Glu2757Gly)
|
rs201996040
|
0.00002
|
|
NM_004006.3(DMD):c.8547+6260G>C
|
rs903311060
|
0.00002
|
|
NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)
|
rs398124077
|
0.00002
|
|
NM_004006.3(DMD):c.8937+5C>T
|
rs752551008
|
0.00002
|
|
NM_004006.3(DMD):c.9164-10352C>T
|
rs1233350448
|
0.00002
|
|
NM_004006.3(DMD):c.9164-3C>T
|
rs1237165748
|
0.00002
|
|
NM_004006.3(DMD):c.9286+10827G>C
|
rs1379644792
|
0.00002
|
|
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu)
|
rs777354267
|
0.00002
|
|
NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln)
|
rs369960115
|
0.00002
|
|
NM_004104.5(FASN):c.2881T>C (p.Trp961Arg)
|
rs763326290
|
0.00002
|
|
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
|
rs201446570
|
0.00002
|
|
NM_004172.5(SLC1A3):c.674C>T (p.Thr225Ile)
|
rs758446635
|
0.00002
|
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
|
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg)
|
rs543720798
|
0.00002
|
|
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys)
|
rs1415830597
|
0.00002
|
|
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp)
|
rs759573189
|
0.00002
|
|
NM_004281.4(BAG3):c.881G>A (p.Arg294His)
|
rs151335530
|
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_004287.5(GOSR2):c.229G>A (p.Val77Ile)
|
rs1407806851
|
0.00002
|
|
NM_004304.5(ALK):c.871C>T (p.Arg291Cys)
|
rs748854412
|
0.00002
|
|
NM_004304.5(ALK):c.94C>G (p.Pro32Ala)
|
rs573276657
|
0.00002
|
|
NM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile)
|
rs770299228
|
0.00002
|
|
NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu)
|
rs41292392
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)
|
rs200834922
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys)
|
rs768177407
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg)
|
rs780556969
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser)
|
rs1312245541
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val)
|
rs772242880
|
0.00002
|
|
NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser)
|
rs763205557
|
0.00002
|
|
NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg)
|
rs761201498
|
0.00002
|
|
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His)
|
rs751166692
|
0.00002
|
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00002
|
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
|
NM_004369.4(COL6A3):c.1898-5T>C
|
rs373563217
|
0.00002
|
|
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)
|
rs760976593
|
0.00002
|
|
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
|
rs1389629269
|
0.00002
|
|
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val)
|
rs115327470
|
0.00002
|
|
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His)
|
rs982703428
|
0.00002
|
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
|
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)
|
rs768420468
|
0.00002
|
|
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
|
rs757551254
|
0.00002
|
|
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)
|
rs115320113
|
0.00002
|
|
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)
|
rs750063736
|
0.00002
|
|
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
|
rs750889657
|
0.00002
|
|
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)
|
rs781675126
|
0.00002
|
|
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
|
rs139768780
|
0.00002
|
|
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn)
|
rs755138368
|
0.00002
|
|
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)
|
rs749169391
|
0.00002
|
|
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)
|
rs757146083
|
0.00002
|
|
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)
|
rs536607503
|
0.00002
|
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
|
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe)
|
rs565496900
|
0.00002
|
|
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)
|
rs756803766
|
0.00002
|
|
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)
|
rs764241362
|
0.00002
|
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
|
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)
|
rs374540275
|
0.00002
|
|
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
|
rs757917876
|
0.00002
|
|
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn)
|
rs758640189
|
0.00002
|
|
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)
|
rs772069524
|
0.00002
|
|
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)
|
rs368481619
|
0.00002
|
|
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)
|
rs753254039
|
0.00002
|
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
|
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)
|
rs1228621705
|
0.00002
|
|
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)
|
rs751564052
|
0.00002
|
|
NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp)
|
rs62261248
|
0.00002
|
|
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile)
|
rs527867946
|
0.00002
|
|
NM_004393.6(DAG1):c.1808G>A (p.Arg603Lys)
|
rs576210529
|
0.00002
|
|
NM_004393.6(DAG1):c.226C>T (p.Arg76Cys)
|
rs772814756
|
0.00002
|
|
NM_004393.6(DAG1):c.2416G>A (p.Asp806Asn)
|
rs375691410
|
0.00002
|
|
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser)
|
rs368597067
|
0.00002
|
|
NM_004393.6(DAG1):c.2560C>T (p.Arg854Trp)
|
rs767716751
|
0.00002
|
|
NM_004393.6(DAG1):c.440A>G (p.Gln147Arg)
|
rs748703170
|
0.00002
|
|
NM_004393.6(DAG1):c.695A>G (p.Asn232Ser)
|
rs779274447
|
0.00002
|
|
NM_004408.4(DNM1):c.812G>A (p.Arg271His)
|
rs201656136
|
0.00002
|
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
|
NM_004431.5(EPHA2):c.508G>A (p.Val170Met)
|
rs750091839
|
0.00002
|
|
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)
|
rs780431445
|
0.00002
|
|
NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr)
|
rs1303301378
|
0.00002
|
|
NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu)
|
rs762253691
|
0.00002
|
|
NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp)
|
rs200177996
|
0.00002
|
|
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala)
|
rs1358610598
|
0.00002
|
|
NM_004606.5(TAF1):c.4821+3A>G
|
rs760062431
|
0.00002
|
|
NM_004614.5(TK2):c.548G>A (p.Arg183Gln)
|
rs780333412
|
0.00002
|
|
NM_004643.4(PABPN1):c.269C>T (p.Ser90Leu)
|
rs949653857
|
0.00002
|
|
NM_004667.6(HERC2):c.8867C>T (p.Thr2956Met)
|
rs200987196
|
0.00002
|
|
NM_004793.4(LONP1):c.2812C>T (p.His938Tyr)
|
rs766783227
|
0.00002
|
|
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly)
|
rs1394054374
|
0.00002
|
|
NM_004820.5(CYP7B1):c.478A>G (p.Asn160Asp)
|
rs775784484
|
0.00002
|
|
NM_004855.5(PIGB):c.643T>G (p.Ser215Ala)
|
rs745621935
|
0.00002
|
|
NM_004958.4(MTOR):c.5060A>G (p.His1687Arg)
|
rs376436419
|
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_005006.7(NDUFS1):c.993G>T (p.Gln331His)
|
rs145401558
|
0.00002
|
|
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg)
|
rs1481028795
|
0.00002
|
|
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro)
|
rs566580675
|
0.00002
|
|
NM_005045.4(RELN):c.8490-3T>C
|
rs373564931
|
0.00002
|
|
NM_005051.3(QARS1):c.665A>C (p.Glu222Ala)
|
rs1349950171
|
0.00002
|
|
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)
|
rs1380619456
|
0.00002
|
|
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)
|
rs780338213
|
0.00002
|
|
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)
|
rs199506866
|
0.00002
|
|
NM_005055.5(RAPSN):c.650G>A (p.Arg217His)
|
rs763058066
|
0.00002
|
|
NM_005097.4(LGI1):c.658G>A (p.Asp220Asn)
|
rs772228851
|
0.00002
|
|
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
|
rs981968954
|
0.00002
|
|
NM_005121.3(MED13):c.3389T>C (p.Met1130Thr)
|
rs763070657
|
0.00002
|
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
|
NM_005219.5(DIAPH1):c.1461+5A>G
|
rs542750090
|
0.00002
|
|
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser)
|
rs774639835
|
0.00002
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
rs782325371
|
0.00002
|
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
|
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
|
rs781976433
|
0.00002
|
|
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
|
rs1455560292
|
0.00002
|
|
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
|
rs369452147
|
0.00002
|
|
NM_005427.4(TP73):c.1342G>A (p.Val448Met)
|
rs751239958
|
0.00002
|
|
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser)
|
rs777828072
|
0.00002
|
|
NM_005472.5(KCNE3):c.242G>A (p.Arg81His)
|
rs978419298
|
0.00002
|
|
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)
|
rs150132839
|
0.00002
|
|
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)
|
rs769745306
|
0.00002
|
|
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu)
|
rs201808007
|
0.00002
|
|
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr)
|
rs369119154
|
0.00002
|
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
|
NM_005476.7(GNE):c.485G>A (p.Arg162His)
|
rs747640708
|
0.00002
|
|
NM_005476.7(GNE):c.688A>G (p.Ile230Val)
|
rs758234900
|
0.00002
|
|
NM_005529.7(HSPG2):c.10084C>T (p.Arg3362Cys)
|
rs368151242
|
0.00002
|
|
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His)
|
rs748180505
|
0.00002
|
|
NM_005529.7(HSPG2):c.11156G>A (p.Arg3719Gln)
|
rs78280998
|
0.00002
|
|
NM_005529.7(HSPG2):c.11552G>A (p.Arg3851Gln)
|
rs200682058
|
0.00002
|
|
NM_005529.7(HSPG2):c.12395G>A (p.Arg4132Gln)
|
rs770563957
|
0.00002
|
|
NM_005529.7(HSPG2):c.1400G>A (p.Arg467His)
|
rs376490126
|
0.00002
|
|
NM_005529.7(HSPG2):c.1970T>C (p.Leu657Pro)
|
rs762408205
|
0.00002
|
|
NM_005529.7(HSPG2):c.2113G>A (p.Val705Met)
|
rs775704543
|
0.00002
|
|
NM_005529.7(HSPG2):c.2343+3G>A
|
rs755043449
|
0.00002
|
|
NM_005529.7(HSPG2):c.2597G>A (p.Gly866Asp)
|
rs150004000
|
0.00002
|
|
NM_005529.7(HSPG2):c.2872G>A (p.Ala958Thr)
|
rs773438061
|
0.00002
|
|
NM_005529.7(HSPG2):c.353C>T (p.Thr118Met)
|
rs769350557
|
0.00002
|
|
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser)
|
rs868076162
|
0.00002
|
|
NM_005529.7(HSPG2):c.4300G>A (p.Asp1434Asn)
|
rs369941068
|
0.00002
|
|
NM_005529.7(HSPG2):c.4498G>A (p.Val1500Met)
|
rs376611705
|
0.00002
|
|
NM_005529.7(HSPG2):c.5147G>A (p.Arg1716Gln)
|
rs778846986
|
0.00002
|
|
NM_005529.7(HSPG2):c.5152G>T (p.Val1718Leu)
|
rs768867318
|
0.00002
|
|
NM_005529.7(HSPG2):c.5914A>G (p.Thr1972Ala)
|
rs780024090
|
0.00002
|
|
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys)
|
rs777591903
|
0.00002
|
|
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=)
|
rs769398456
|
0.00002
|
|
NM_005529.7(HSPG2):c.677G>A (p.Arg226Lys)
|
rs907141038
|
0.00002
|
|
NM_005529.7(HSPG2):c.7457C>T (p.Ser2486Leu)
|
rs745874302
|
0.00002
|
|
NM_005529.7(HSPG2):c.7709G>A (p.Arg2570His)
|
rs762780418
|
0.00002
|
|
NM_005529.7(HSPG2):c.7985C>A (p.Thr2662Lys)
|
rs374346089
|
0.00002
|
|
NM_005529.7(HSPG2):c.8318C>T (p.Thr2773Ile)
|
rs754456095
|
0.00002
|
|
NM_005559.4(LAMA1):c.2700C>T (p.Arg900=)
|
rs140067215
|
0.00002
|
|
NM_005559.4(LAMA1):c.6145A>G (p.Thr2049Ala)
|
rs750722310
|
0.00002
|
|
NM_005591.4(MRE11):c.1190A>C (p.His397Pro)
|
rs372657126
|
0.00002
|
|
NM_005591.4(MRE11):c.364G>C (p.Val122Leu)
|
rs876658586
|
0.00002
|
|
NM_005592.4(MUSK):c.1657A>G (p.Met553Val)
|
rs753213086
|
0.00002
|
|
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn)
|
rs147562871
|
0.00002
|
|
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser)
|
rs779042240
|
0.00002
|
|
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)
|
rs371157090
|
0.00002
|
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
|
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser)
|
rs747154421
|
0.00002
|
|
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
|
rs369023786
|
0.00002
|
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
|
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)
|
rs771016457
|
0.00002
|
|
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr)
|
rs751807745
|
0.00002
|
|
NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys)
|
rs1014177089
|
0.00002
|
|
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser)
|
rs145285313
|
0.00002
|
|
NM_005609.4(PYGM):c.554G>A (p.Arg185His)
|
rs780489639
|
0.00002
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
rs375724338
|
0.00002
|
|
NM_005609.4(PYGM):c.818C>T (p.Ala273Val)
|
rs768576604
|
0.00002
|
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
|
NM_005618.4(DLL1):c.1195G>A (p.Gly399Ser)
|
rs112145095
|
0.00002
|
|
NM_005618.4(DLL1):c.1444G>A (p.Val482Ile)
|
rs146638649
|
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_005654.6(NR2F1):c.5C>T (p.Ala2Val)
|
rs2149941355
|
0.00002
|
|
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn)
|
rs749266800
|
0.00002
|
|
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys)
|
rs376385207
|
0.00002
|
|
NM_005677.4(COLQ):c.79A>G (p.Ile27Val)
|
rs1383472154
|
0.00002
|
|
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg)
|
rs374679403
|
0.00002
|
|
NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys)
|
rs755408339
|
0.00002
|
|
NM_005816.5(CD96):c.1249+1G>A
|
rs1021804713
|
0.00002
|
|
NM_005862.3(STAG1):c.2334G>T (p.Gln778His)
|
rs762160605
|
0.00002
|
|
NM_005862.3(STAG1):c.3401A>C (p.Gln1134Pro)
|
rs1381188958
|
0.00002
|
|
NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)
|
rs745535699
|
0.00002
|
|
NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr)
|
rs375139813
|
0.00002
|
|
NM_006017.3(PROM1):c.896G>A (p.Arg299Gln)
|
rs748149698
|
0.00002
|
|
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)
|
rs377034463
|
0.00002
|
|
NM_006030.4(CACNA2D2):c.1570G>A (p.Val524Met)
|
rs758052476
|
0.00002
|
|
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
|
rs770154169
|
0.00002
|
|
NM_006059.4(LAMC3):c.5C>T (p.Ala2Val)
|
rs1450959552
|
0.00002
|
|
NM_006121.4(KRT1):c.1816G>A (p.Gly606Ser)
|
rs1941482882
|
0.00002
|
|
NM_006164.5(NFE2L2):c.1345C>T (p.Arg449Cys)
|
rs201871588
|
0.00002
|
|
NM_006206.6(PDGFRA):c.1673G>A (p.Arg558His)
|
rs761924292
|
0.00002
|
|
NM_006231.4(POLE):c.3407G>A (p.Arg1136Gln)
|
rs761355093
|
0.00002
|
|
NM_006306.4(SMC1A):c.3539G>C (p.Cys1180Ser)
|
rs1312716558
|
0.00002
|
|
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys)
|
rs767217808
|
0.00002
|
|
NM_006363.6(SEC23B):c.1340A>G (p.Gln447Arg)
|
rs760969796
|
0.00002
|
|
NM_006363.6(SEC23B):c.1790A>G (p.Asn597Ser)
|
rs762108877
|
0.00002
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
rs200152499
|
0.00002
|
|
NM_006446.5(SLCO1B1):c.1805G>T (p.Trp602Leu)
|
rs778178385
|
0.00002
|
|
NM_006446.5(SLCO1B1):c.84+2T>G
|
rs1017205455
|
0.00002
|
|
NM_006514.4(SCN10A):c.2464G>A (p.Ala822Thr)
|
rs144304164
|
0.00002
|
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
|
NM_006593.4(TBR1):c.1952C>T (p.Ser651Leu)
|
rs780210539
|
0.00002
|
|
NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)
|
rs749770926
|
0.00002
|
|
NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys)
|
rs745452954
|
0.00002
|
|
NM_006734.4(HIVEP2):c.193G>C (p.Gly65Arg)
|
rs939482727
|
0.00002
|
|
NM_006734.4(HIVEP2):c.5197G>A (p.Asp1733Asn)
|
rs753249798
|
0.00002
|
|
NM_006734.4(HIVEP2):c.541C>T (p.His181Tyr)
|
rs760571643
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)
|
rs765193793
|
0.00002
|
|
NM_006922.4(SCN3A):c.43C>T (p.Arg15Cys)
|
rs558749829
|
0.00002
|
|
NM_006922.4(SCN3A):c.5027A>C (p.Asn1676Thr)
|
rs550328522
|
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_006946.4(SPTBN2):c.3499C>T (p.Arg1167Cys)
|
rs1340763076
|
0.00002
|
|
NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)
|
rs776054489
|
0.00002
|
|
NM_007078.3(LDB3):c.321+1G>A
|
rs763970235
|
0.00002
|
|
NM_007078.3(LDB3):c.54G>T (p.Gln18His)
|
rs149348427
|
0.00002
|
|
NM_007118.4(TRIO):c.3764C>T (p.Ser1255Leu)
|
rs201215276
|
0.00002
|
|
NM_007118.4(TRIO):c.8011T>C (p.Ser2671Pro)
|
rs760800617
|
0.00002
|
|
NM_007126.5(VCP):c.56A>G (p.Gln19Arg)
|
rs553273871
|
0.00002
|
|
NM_007180.3(TREH):c.259C>A (p.Gln87Lys)
|
rs535480211
|
0.00002
|
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
|
NM_007254.4(PNKP):c.267G>A (p.Val89=)
|
rs531640505
|
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_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)
|
rs756076552
|
0.00002
|
|
NM_012193.4(FZD4):c.1475G>A (p.Gly492Asp)
|
rs759890542
|
0.00002
|
|
NM_012199.5(AGO1):c.1238C>T (p.Ala413Val)
|
rs544024909
|
0.00002
|
|
NM_012210.4(TRIM32):c.1169G>A (p.Arg390His)
|
rs146094774
|
0.00002
|
|
NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp)
|
rs762785784
|
0.00002
|
|
NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)
|
rs897930061
|
0.00002
|
|
NM_012210.4(TRIM32):c.470G>A (p.Arg157Gln)
|
rs1345616881
|
0.00002
|
|
NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln)
|
rs759945386
|
0.00002
|
|
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)
|
rs761398878
|
0.00002
|
|
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile)
|
rs769037467
|
0.00002
|
|
NM_012309.5(SHANK2):c.472C>T (p.Leu158Phe)
|
rs1029871639
|
0.00002
|
|
NM_012310.5(KIF4A):c.1921C>T (p.Arg641Trp)
|
rs377723545
|
0.00002
|
|
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile)
|
rs199806711
|
0.00002
|
|
NM_012464.5(TLL1):c.2540G>A (p.Arg847Gln)
|
rs867864770
|
0.00002
|
|
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)
|
rs566110160
|
0.00002
|
|
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln)
|
rs756055923
|
0.00002
|
|
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser)
|
rs973161535
|
0.00002
|
|
NM_013382.7(POMT2):c.1192G>C (p.Asp398His)
|
rs145933402
|
0.00002
|
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
|
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp)
|
rs768256055
|
0.00002
|
|
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln)
|
rs757110456
|
0.00002
|
|
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp)
|
rs751153662
|
0.00002
|
|
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)
|
rs398124264
|
0.00002
|
|
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu)
|
rs750346960
|
0.00002
|
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
|
NM_013382.7(POMT2):c.965G>A (p.Arg322Gln)
|
rs1322449377
|
0.00002
|
|
NM_014000.3(VCL):c.224C>T (p.Pro75Leu)
|
rs373830664
|
0.00002
|
|
NM_014008.5(CCDC22):c.1000C>G (p.Leu334Val)
|
rs781984084
|
0.00002
|
|
NM_014008.5(CCDC22):c.542G>A (p.Arg181Gln)
|
rs782815473
|
0.00002
|
|
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
|
rs757570476
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln)
|
rs766857853
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys)
|
rs779208613
|
0.00002
|
|
NM_014225.6(PPP2R1A):c.1765G>A (p.Ala589Thr)
|
rs780001633
|
0.00002
|
|
NM_014236.4(GNPAT):c.1810G>A (p.Val604Ile)
|
rs552693336
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00002
|
|
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)
|
rs766651047
|
0.00002
|
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00002
|
|
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys)
|
rs774692372
|
0.00002
|
|
NM_014712.3(SETD1A):c.3686G>A (p.Gly1229Asp)
|
rs771768569
|
0.00002
|
|
NM_014712.3(SETD1A):c.655C>T (p.Arg219Cys)
|
rs373130363
|
0.00002
|
|
NM_014797.3(ZBTB24):c.1208A>G (p.His403Arg)
|
rs140690133
|
0.00002
|
|
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)
|
rs1045333933
|
0.00002
|
|
NM_014967.5(FAN1):c.2171C>T (p.Pro724Leu)
|
rs761141548
|
0.00002
|
|
NM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe)
|
rs754481496
|
0.00002
|
|
NM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn)
|
rs746645318
|
0.00002
|
|
NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met)
|
rs374371115
|
0.00002
|
|
NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)
|
rs768055523
|
0.00002
|
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
|
NM_015057.5(MYCBP2):c.2264C>T (p.Pro755Leu)
|
rs749153002
|
0.00002
|
|
NM_015080.4(NRXN2):c.89A>C (p.Glu30Ala)
|
rs1242956504
|
0.00002
|
|
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln)
|
rs763820362
|
0.00002
|
|
NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)
|
rs371889945
|
0.00002
|
|
NM_015103.3(PLXND1):c.2240C>T (p.Thr747Met)
|
rs200002798
|
0.00002
|
|
NM_015158.5(KANK1):c.2074A>G (p.Ile692Val)
|
rs1302836963
|
0.00002
|
|
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln)
|
rs758283980
|
0.00002
|
|
NM_015204.3(THSD7A):c.2942T>C (p.Val981Ala)
|
rs926299433
|
0.00002
|
|
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
|
rs755139563
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3221-3C>T
|
rs752911154
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
|
rs776673720
|
0.00002
|
|
NM_015295.3(SMCHD1):c.2033T>A (p.Val678Asp)
|
rs188187431
|
0.00002
|
|
NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala)
|
rs944887850
|
0.00002
|
|
NM_015295.3(SMCHD1):c.3890A>G (p.His1297Arg)
|
rs932696032
|
0.00002
|
|
NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)
|
rs376326738
|
0.00002
|
|
NM_015295.3(SMCHD1):c.5907C>G (p.Asp1969Glu)
|
rs553815732
|
0.00002
|
|
NM_015311.3(OBSL1):c.3892G>A (p.Gly1298Ser)
|
rs780760199
|
0.00002
|
|
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
|
rs753702133
|
0.00002
|
|
NM_015338.6(ASXL1):c.3401C>T (p.Pro1134Leu)
|
rs367744979
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.1064G>A (p.Gly355Asp)
|
rs138677966
|
0.00002
|
|
NM_015375.3(DSTYK):c.905C>T (p.Pro302Leu)
|
rs373701022
|
0.00002
|
|
NM_015386.3(COG4):c.490C>T (p.Arg164Cys)
|
rs769331901
|
0.00002
|
|
NM_015386.3(COG4):c.719C>T (p.Ser240Leu)
|
rs182054804
|
0.00002
|
|
NM_015419.4(MXRA5):c.5747G>A (p.Arg1916Gln)
|
rs769800166
|
0.00002
|
|
NM_015459.5(ATL3):c.1500C>T (p.Gly500=)
|
rs202227458
|
0.00002
|
|
NM_015459.5(ATL3):c.1565C>T (p.Thr522Ile)
|
rs767824020
|
0.00002
|
|
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
|
rs2063492731
|
0.00002
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly)
|
rs530739140
|
0.00002
|
|
NM_015570.4(AUTS2):c.2891C>T (p.Pro964Leu)
|
rs146263446
|
0.00002
|
|
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)
|
rs751467256
|
0.00002
|
|
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln)
|
rs759282959
|
0.00002
|
|
NM_015726.4(DCAF8):c.364C>T (p.Arg122Trp)
|
rs768015097
|
0.00002
|
|
NM_015909.4(NBAS):c.359C>T (p.Ser120Phe)
|
rs199796689
|
0.00002
|
|
NM_016006.6(ABHD5):c.258A>C (p.Gly86=)
|
rs537368660
|
0.00002
|
|
NM_016097.5(IER3IP1):c.30G>T (p.Gln10His)
|
rs375955429
|
0.00002
|
|
NM_016120.4(RLIM):c.507A>C (p.Glu169Asp)
|
rs1285137481
|
0.00002
|
|
NM_016148.5(SHANK1):c.3965G>T (p.Gly1322Val)
|
rs908075733
|
0.00002
|
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00002
|
|
NM_016343.4(CENPF):c.2010G>T (p.Met670Ile)
|
rs780637562
|
0.00002
|
|
NM_016356.5(DCDC2):c.1028C>T (p.Pro343Leu)
|
rs766600237
|
0.00002
|
|
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr)
|
rs538198742
|
0.00002
|
|
NM_017534.6(MYH2):c.182C>T (p.Thr61Met)
|
rs145979297
|
0.00002
|
|
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)
|
rs376357016
|
0.00002
|
|
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)
|
rs756811670
|
0.00002
|
|
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln)
|
rs781252325
|
0.00002
|
|
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His)
|
rs755776701
|
0.00002
|
|
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)
|
rs778649204
|
0.00002
|
|
NM_017739.4(POMGNT1):c.1026+3G>A
|
rs374173657
|
0.00002
|
|
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr)
|
rs753688195
|
0.00002
|
|
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp)
|
rs770834730
|
0.00002
|
|
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn)
|
rs917194053
|
0.00002
|
|
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)
|
rs751316371
|
0.00002
|
|
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His)
|
rs756234628
|
0.00002
|
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
|
NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp)
|
rs768171144
|
0.00002
|
|
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
|
rs1441258013
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys)
|
rs1470477437
|
0.00002
|
|
NM_017934.7(PHIP):c.5112T>G (p.Asp1704Glu)
|
rs372154191
|
0.00002
|
|
NM_018055.5(NODAL):c.404A>G (p.Asp135Gly)
|
rs761797212
|
0.00002
|
|
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
|
rs753610894
|
0.00002
|
|
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu)
|
rs373267174
|
0.00002
|
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
|
NM_018136.5(ASPM):c.582T>C (p.Ala194=)
|
rs556849969
|
0.00002
|
|
NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val)
|
rs371881712
|
0.00002
|
|
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
|
rs1311416581
|
0.00002
|
|
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)
|
rs749767366
|
0.00002
|
|
NM_018669.6(WDR4):c.1195C>A (p.His399Asn)
|
rs540138953
|
0.00002
|
|
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr)
|
rs749235364
|
0.00002
|
|
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
|
rs747347699
|
0.00002
|
|
NM_018896.5(CACNA1G):c.3648C>T (p.Asp1216=)
|
rs756178711
|
0.00002
|
|
NM_018896.5(CACNA1G):c.6353C>T (p.Pro2118Leu)
|
rs767448566
|
0.00002
|
|
NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)
|
rs1314172016
|
0.00002
|
|
NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)
|
rs896538088
|
0.00002
|
|
NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)
|
rs1243637627
|
0.00002
|
|
NM_019112.4(ABCA7):c.3418G>A (p.Glu1140Lys)
|
rs756779245
|
0.00002
|
|
NM_019842.4(KCNQ5):c.1604G>A (p.Arg535Gln)
|
rs1358941689
|
0.00002
|
|
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg)
|
rs375126841
|
0.00002
|
|
NM_019892.6(INPP5E):c.1742C>T (p.Thr581Met)
|
rs943471686
|
0.00002
|
|
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala)
|
rs759765273
|
0.00002
|
|
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
|
rs761480737
|
0.00002
|
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
|
NM_020223.4(FAM20C):c.1651C>T (p.Arg551Cys)
|
rs772938056
|
0.00002
|
|
NM_020297.4(ABCC9):c.2011G>A (p.Ala671Thr)
|
rs1220942080
|
0.00002
|
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
rs748335175
|
0.00002
|
|
NM_020338.4(ZMIZ1):c.2655C>G (p.Asp885Glu)
|
rs745403861
|
0.00002
|
|
NM_020365.5(EIF2B3):c.497G>A (p.Arg166Lys)
|
rs752434700
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe)
|
rs756365691
|
0.00002
|
|
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter)
|
rs944560685
|
0.00002
|
|
NM_020376.4(PNPLA2):c.1353del (p.Asn451fs)
|
rs754947101
|
0.00002
|
|
NM_020376.4(PNPLA2):c.359G>A (p.Arg120His)
|
rs750269327
|
0.00002
|
|
NM_020376.4(PNPLA2):c.785T>G (p.Leu262Arg)
|
rs778402032
|
0.00002
|
|
NM_020376.4(PNPLA2):c.975G>A (p.Met325Ile)
|
rs766506723
|
0.00002
|
|
NM_020401.4(NUP107):c.1625T>C (p.Leu542Pro)
|
rs745458107
|
0.00002
|
|
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn)
|
rs200146431
|
0.00002
|
|
NM_020451.3(SELENON):c.1567G>A (p.Val523Met)
|
rs138259627
|
0.00002
|
|
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
|
rs1214297046
|
0.00002
|
|
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu)
|
rs747408056
|
0.00002
|
|
NM_020461.4(TUBGCP6):c.3551G>A (p.Arg1184Gln)
|
rs139409990
|
0.00002
|
|
NM_020549.5(CHAT):c.1186G>A (p.Val396Met)
|
rs536359684
|
0.00002
|
|
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn)
|
rs2132811983
|
0.00002
|
|
NM_020631.6(PLEKHG5):c.2084C>T (p.Pro695Leu)
|
rs757841807
|
0.00002
|
|
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys)
|
rs773530688
|
0.00002
|
|
NM_020699.4(GATAD2B):c.1271G>A (p.Arg424His)
|
rs375391021
|
0.00002
|
|
NM_020754.4(ARHGAP31):c.1276C>G (p.Arg426Gly)
|
rs774182014
|
0.00002
|
|
NM_020774.4(MIB1):c.2285A>G (p.Asn762Ser)
|
rs766910290
|
0.00002
|
|
NM_020812.4(DOCK6):c.449C>T (p.Pro150Leu)
|
rs781180338
|
0.00002
|
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
|
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg)
|
rs769596439
|
0.00002
|
|
NM_020822.3(KCNT1):c.2595-8G>A
|
rs779012524
|
0.00002
|
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
|
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
|
rs763400879
|
0.00002
|
|
NM_020884.7(MYH7B):c.1533G>A (p.Trp511Ter)
|
rs1241186894
|
0.00002
|
|
NM_020928.2(ZSWIM6):c.2426G>A (p.Arg809His)
|
rs754821174
|
0.00002
|
|
NM_020928.2(ZSWIM6):c.2950G>T (p.Ala984Ser)
|
rs958090617
|
0.00002
|
|
NM_020944.3(GBA2):c.1507C>T (p.Pro503Ser)
|
rs371251592
|
0.00002
|
|
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser)
|
rs370120497
|
0.00002
|
|
NM_021008.4(DEAF1):c.221G>A (p.Gly74Glu)
|
rs748707692
|
0.00002
|
|
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
|
rs781343756
|
0.00002
|
|
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys)
|
rs1244507563
|
0.00002
|
|
NM_021120.4(DLG3):c.1280G>A (p.Arg427His)
|
rs775293712
|
0.00002
|
|
NM_021120.4(DLG3):c.593G>A (p.Arg198Gln)
|
rs748814438
|
0.00002
|
|
NM_021831.6(AGBL5):c.2602C>A (p.Gln868Lys)
|
rs768632393
|
0.00002
|
|
NM_021939.4(FKBP10):c.1149G>T (p.Arg383Ser)
|
rs782220242
|
0.00002
|
|
NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln)
|
rs771769746
|
0.00002
|
|
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val)
|
rs368432060
|
0.00002
|
|
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys)
|
rs1275717721
|
0.00002
|
|
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro)
|
rs368699954
|
0.00002
|
|
NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val)
|
rs932135252
|
0.00002
|
|
NM_021956.5(GRIK2):c.2581A>G (p.Met861Val)
|
rs764080487
|
0.00002
|
|
NM_021971.4(GMPPB):c.366G>T (p.Gln122His)
|
rs766144577
|
0.00002
|
|
NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)
|
rs534685803
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe)
|
rs772446950
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His)
|
rs756516383
|
0.00002
|
|
NM_022114.4(PRDM16):c.811G>A (p.Glu271Lys)
|
rs200052869
|
0.00002
|
|
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met)
|
rs763379895
|
0.00002
|
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
|
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu)
|
rs367921237
|
0.00002
|
|
NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser)
|
rs746374174
|
0.00002
|
|
NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)
|
rs755999941
|
0.00002
|
|
NM_022436.3(ABCG5):c.391T>C (p.Tyr131His)
|
rs774845445
|
0.00002
|
|
NM_022436.3(ABCG5):c.509C>A (p.Ala170Asp)
|
rs145505499
|
0.00002
|
|
NM_022436.3(ABCG5):c.791C>T (p.Ala264Val)
|
rs768917242
|
0.00002
|
|
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)
|
rs748009304
|
0.00002
|
|
NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn)
|
rs139612373
|
0.00002
|
|
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
|
rs201222730
|
0.00002
|
|
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
|
rs150156151
|
0.00002
|
|
NM_022552.5(DNMT3A):c.55C>T (p.Arg19Trp)
|
rs959218576
|
0.00002
|
|
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
|
rs549241918
|
0.00002
|
|
NM_024009.3(GJB3):c.302G>A (p.Arg101Gln)
|
rs765605645
|
0.00002
|
|
NM_024105.4(ALG12):c.470-3C>T
|
rs751546611
|
0.00002
|
|
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)
|
rs758805684
|
0.00002
|
|
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu)
|
rs752018916
|
0.00002
|
|
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)
|
rs778472624
|
0.00002
|
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
|
NM_024334.3(TMEM43):c.337G>A (p.Val113Met)
|
rs572474708
|
0.00002
|
|
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln)
|
rs782269360
|
0.00002
|
|
NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)
|
rs951352077
|
0.00002
|
|
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)
|
rs781850215
|
0.00002
|
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
|
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys)
|
rs749139864
|
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_024817.3(THSD4):c.2758G>A (p.Glu920Lys)
|
rs779183113
|
0.00002
|
|
NM_024939.3(ESRP2):c.364G>C (p.Gly122Arg)
|
rs372633810
|
0.00002
|
|
NM_025074.7(FRAS1):c.7744A>C (p.Asn2582His)
|
rs774114715
|
0.00002
|
|
NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser)
|
rs749828902
|
0.00002
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
0.00002
|
|
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)
|
rs766403944
|
0.00002
|
|
NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg)
|
rs376997378
|
0.00002
|
|
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu)
|
rs755152385
|
0.00002
|
|
NM_030773.4(TUBB1):c.32A>C (p.Gln11Pro)
|
rs146871690
|
0.00002
|
|
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)
|
rs915090892
|
0.00002
|
|
NM_031157.4(HNRNPA1):c.703G>A (p.Gly235Ser)
|
rs770353415
|
0.00002
|
|
NM_031157.4(HNRNPA1):c.959A>G (p.Asn320Ser)
|
rs778425038
|
0.00002
|
|
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met)
|
rs1190754458
|
0.00002
|
|
NM_031372.4(HNRNPDL):c.244C>T (p.Arg82Cys)
|
rs373320441
|
0.00002
|
|
NM_031372.4(HNRNPDL):c.47C>T (p.Pro16Leu)
|
rs1165100198
|
0.00002
|
|
NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)
|
rs782348242
|
0.00002
|
|
NM_031418.4(ANO3):c.160A>G (p.Thr54Ala)
|
rs750849093
|
0.00002
|
|
NM_031483.7(ITCH):c.1296-1486G>A
|
rs1235071240
|
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_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile)
|
rs760468429
|
0.00002
|
|
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
|
rs527618427
|
0.00002
|
|
NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)
|
rs1379242958
|
0.00002
|
|
NM_032271.3(TRAF7):c.1660G>A (p.Val554Ile)
|
rs749613683
|
0.00002
|
|
NM_032415.7(CARD11):c.2918G>A (p.Arg973His)
|
rs141681466
|
0.00002
|
|
NM_032578.4(MYPN):c.1196C>T (p.Pro399Leu)
|
rs142973768
|
0.00002
|
|
NM_032608.7(MYO18B):c.3065G>A (p.Arg1022His)
|
rs764469212
|
0.00002
|
|
NM_032608.7(MYO18B):c.7429A>G (p.Thr2477Ala)
|
rs1280344801
|
0.00002
|
|
NM_032776.3(JMJD1C):c.2042T>A (p.Leu681Gln)
|
rs1204316263
|
0.00002
|
|
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)
|
rs606231407
|
0.00002
|
|
NM_033225.6(CSMD1):c.2335A>C (p.Lys779Gln)
|
rs557149887
|
0.00002
|
|
NM_033225.6(CSMD1):c.9466G>A (p.Gly3156Arg)
|
rs761247550
|
0.00002
|
|
NM_033310.3(KCNK4):c.760G>A (p.Gly254Arg)
|
rs777868070
|
0.00002
|
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
|
NM_052844.4(DYNC2I2):c.253G>A (p.Ala85Thr)
|
rs762303082
|
0.00002
|
|
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
|
rs767706407
|
0.00002
|
|
NM_052867.4(NALCN):c.2757+5C>T
|
rs772170189
|
0.00002
|
|
NM_052867.4(NALCN):c.4832C>T (p.Pro1611Leu)
|
rs772380055
|
0.00002
|
|
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
|
rs768057751
|
0.00002
|
|
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
|
rs759107218
|
0.00002
|
|
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala)
|
rs777200220
|
0.00002
|
|
NM_058004.4(PI4KA):c.2406C>T (p.Ser802=)
|
rs150538650
|
0.00002
|
|
NM_058246.4(DNAJB6):c.721G>A (p.Glu241Lys)
|
rs886043824
|
0.00002
|
|
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)
|
rs969715884
|
0.00002
|
|
NM_058246.4(DNAJB6):c.932A>G (p.Lys311Arg)
|
rs775708476
|
0.00002
|
|
NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)
|
rs565991343
|
0.00002
|
|
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)
|
rs755049830
|
0.00002
|
|
NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)
|
rs533996978
|
0.00002
|
|
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val)
|
rs199906790
|
0.00002
|
|
NM_134261.3(RORA):c.1165G>A (p.Asp389Asn)
|
rs202239576
|
0.00002
|
|
NM_138395.4(MARS2):c.375C>G (p.Phe125Leu)
|
rs770711473
|
0.00002
|
|
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)
|
rs774553541
|
0.00002
|
|
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
|
rs1474768690
|
0.00002
|
|
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
|
rs751764201
|
0.00002
|
|
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
|
rs370773802
|
0.00002
|
|
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
|
rs555346760
|
0.00002
|
|
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
|
rs201960893
|
0.00002
|
|
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)
|
rs751799284
|
0.00002
|
|
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp)
|
rs142276684
|
0.00002
|
|
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
|
rs764763838
|
0.00002
|
|
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
|
rs369344224
|
0.00002
|
|
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln)
|
rs777323929
|
0.00002
|
|
NM_138615.3(DHX30):c.3403G>A (p.Val1135Met)
|
rs753692624
|
0.00002
|
|
NM_138927.4(SON):c.3818A>G (p.His1273Arg)
|
rs770797378
|
0.00002
|
|
NM_144585.4(SLC22A12):c.208G>A (p.Glu70Lys)
|
rs755253783
|
0.00002
|
|
NM_144687.4(NLRP12):c.830C>T (p.Ala277Val)
|
rs1170408810
|
0.00002
|
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
|
NM_145059.3(FCSK):c.1892A>G (p.Asn631Ser)
|
rs770074270
|
0.00002
|
|
NM_145239.3(PRRT2):c.880-10C>T
|
rs577833615
|
0.00002
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
rs910401729
|
0.00002
|
|
NM_145867.2(LTC4S):c.158+4A>C
|
rs376751526
|
0.00002
|
|
NM_152246.3(CPT1B):c.1277A>C (p.Tyr426Ser)
|
rs546597240
|
0.00002
|
|
NM_152263.4(TPM3):c.835C>G (p.Leu279Val)
|
rs186253666
|
0.00002
|
|
NM_152305.3(POGLUT1):c.1012A>G (p.Ile338Val)
|
rs777882653
|
0.00002
|
|
NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter)
|
rs140695299
|
0.00002
|
|
NM_152328.5(ADSS1):c.823T>G (p.Cys275Gly)
|
rs765472066
|
0.00002
|
|
NM_152424.4(AMER1):c.1076G>C (p.Ser359Thr)
|
rs1235327141
|
0.00002
|
|
NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro)
|
rs201053898
|
0.00002
|
|
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
|
rs761979457
|
0.00002
|
|
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
|
rs564717310
|
0.00002
|
|
NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val)
|
rs750566749
|
0.00002
|
|
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
|
rs201837340
|
0.00002
|
|
NM_152743.4(BRAT1):c.2003C>T (p.Pro668Leu)
|
rs758503229
|
0.00002
|
|
NM_152743.4(BRAT1):c.2137C>T (p.Arg713Cys)
|
rs780417945
|
0.00002
|
|
NM_152743.4(BRAT1):c.439G>A (p.Asp147Asn)
|
rs1008248711
|
0.00002
|
|
NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu)
|
rs748372797
|
0.00002
|
|
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val)
|
rs140594430
|
0.00002
|
|
NM_153603.4(COG7):c.173C>G (p.Thr58Arg)
|
rs866875812
|
0.00002
|
|
NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val)
|
rs587778509
|
0.00002
|
|
NM_170606.3(KMT2C):c.14320T>C (p.Tyr4774His)
|
rs574886018
|
0.00002
|
|
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
|
rs762356843
|
0.00002
|
|
NM_170606.3(KMT2C):c.8957G>A (p.Gly2986Asp)
|
rs755062207
|
0.00002
|
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
0.00002
|
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
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_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)
|
rs373408528
|
0.00002
|
|
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg)
|
rs142510199
|
0.00002
|
|
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu)
|
rs535473251
|
0.00002
|
|
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys)
|
rs1359635065
|
0.00002
|
|
NM_173660.5(DOK7):c.689G>A (p.Arg230His)
|
rs760941977
|
0.00002
|
|
NM_173812.5(DPY19L2):c.1816C>T (p.Arg606Cys)
|
rs747152353
|
0.00002
|
|
NM_174889.5(NDUFAF2):c.263T>C (p.Ile88Thr)
|
rs781737888
|
0.00002
|
|
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile)
|
rs1454569806
|
0.00002
|
|
NM_177559.3(CSNK2A1):c.809A>G (p.Asn270Ser)
|
rs375633788
|
0.00002
|
|
NM_177939.3(P4HTM):c.551G>C (p.Ser184Thr)
|
rs200947739
|
0.00002
|
|
NM_178138.6(LHX3):c.1003T>C (p.Ser335Pro)
|
rs888599367
|
0.00002
|
|
NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys)
|
rs545754427
|
0.00002
|
|
NM_181552.4(CUX1):c.1580C>T (p.Pro527Leu)
|
rs556721676
|
0.00002
|
|
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys)
|
rs766646613
|
0.00002
|
|
NM_181703.4(GJA5):c.496G>A (p.Gly166Ser)
|
rs782065420
|
0.00002
|
|
NM_182914.3(SYNE2):c.11977-4A>G
|
rs771934420
|
0.00002
|
|
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)
|
rs139959852
|
0.00002
|
|
NM_182914.3(SYNE2):c.15058G>C (p.Glu5020Gln)
|
rs747472621
|
0.00002
|
|
NM_182914.3(SYNE2):c.16302G>T (p.Glu5434Asp)
|
rs763730249
|
0.00002
|
|
NM_182914.3(SYNE2):c.17083G>A (p.Val5695Ile)
|
rs747649889
|
0.00002
|
|
NM_182914.3(SYNE2):c.17191C>T (p.Arg5731Cys)
|
rs376008959
|
0.00002
|
|
NM_182914.3(SYNE2):c.18991C>T (p.Arg6331Cys)
|
rs779514571
|
0.00002
|
|
NM_182914.3(SYNE2):c.20533C>T (p.Arg6845Trp)
|
rs769789774
|
0.00002
|
|
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
|
rs377493238
|
0.00002
|
|
NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys)
|
rs748431472
|
0.00002
|
|
NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg)
|
rs537177665
|
0.00002
|
|
NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln)
|
rs866911879
|
0.00002
|
|
NM_182931.3(KMT2E):c.4913C>T (p.Pro1638Leu)
|
rs761307628
|
0.00002
|
|
NM_182931.3(KMT2E):c.991C>T (p.Pro331Ser)
|
rs377473955
|
0.00002
|
|
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)
|
rs748499952
|
0.00002
|
|
NM_182961.4(SYNE1):c.10136G>A (p.Arg3379His)
|
rs764835758
|
0.00002
|
|
NM_182961.4(SYNE1):c.10162C>T (p.Leu3388Phe)
|
rs116883984
|
0.00002
|
|
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr)
|
rs1489130675
|
0.00002
|
|
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)
|
rs531503159
|
0.00002
|
|
NM_182961.4(SYNE1):c.10708C>T (p.Arg3570Trp)
|
rs886043975
|
0.00002
|
|
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
|
rs745342797
|
0.00002
|
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00002
|
|
NM_182961.4(SYNE1):c.12331A>T (p.Ile4111Phe)
|
rs755885051
|
0.00002
|
|
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)
|
rs201449723
|
0.00002
|
|
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys)
|
rs777182389
|
0.00002
|
|
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)
|
rs368709678
|
0.00002
|
|
NM_182961.4(SYNE1):c.1343A>G (p.Gln448Arg)
|
rs1207607260
|
0.00002
|
|
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala)
|
rs933108692
|
0.00002
|
|
NM_182961.4(SYNE1):c.13884C>A (p.Thr4628=)
|
rs2096229863
|
0.00002
|
|
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly)
|
rs777385898
|
0.00002
|
|
NM_182961.4(SYNE1):c.14486G>A (p.Gly4829Glu)
|
rs764891713
|
0.00002
|
|
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)
|
rs762212036
|
0.00002
|
|
NM_182961.4(SYNE1):c.15465C>A (p.Phe5155Leu)
|
rs1289901530
|
0.00002
|
|
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
|
rs770022371
|
0.00002
|
|
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser)
|
rs374220794
|
0.00002
|
|
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)
|
rs780794124
|
0.00002
|
|
NM_182961.4(SYNE1):c.17090G>A (p.Arg5697Gln)
|
rs762894220
|
0.00002
|
|
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn)
|
rs751747080
|
0.00002
|
|
NM_182961.4(SYNE1):c.17305A>G (p.Ser5769Gly)
|
rs758777458
|
0.00002
|
|
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
|
rs753335678
|
0.00002
|
|
NM_182961.4(SYNE1):c.17572T>A (p.Ser5858Thr)
|
rs938481571
|
0.00002
|
|
NM_182961.4(SYNE1):c.17629C>G (p.Pro5877Ala)
|
rs377119739
|
0.00002
|
|
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val)
|
rs780920250
|
0.00002
|
|
NM_182961.4(SYNE1):c.18106G>A (p.Asp6036Asn)
|
rs147615757
|
0.00002
|
|
NM_182961.4(SYNE1):c.18404A>G (p.Gln6135Arg)
|
rs775239823
|
0.00002
|
|
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser)
|
rs777882357
|
0.00002
|
|
NM_182961.4(SYNE1):c.19198C>T (p.Arg6400Cys)
|
rs770043769
|
0.00002
|
|
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
|
rs773315032
|
0.00002
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
rs202133252
|
0.00002
|
|
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val)
|
rs368088542
|
0.00002
|
|
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)
|
rs191912037
|
0.00002
|
|
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His)
|
rs777618601
|
0.00002
|
|
NM_182961.4(SYNE1):c.21425T>C (p.Ile7142Thr)
|
rs201081234
|
0.00002
|
|
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
|
rs1488536575
|
0.00002
|
|
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe)
|
rs886061196
|
0.00002
|
|
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr)
|
rs886042801
|
0.00002
|
|
NM_182961.4(SYNE1):c.23793G>T (p.Glu7931Asp)
|
rs755856886
|
0.00002
|
|
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His)
|
rs776221173
|
0.00002
|
|
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys)
|
rs200752692
|
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_182961.4(SYNE1):c.2546C>T (p.Ala849Val)
|
rs199758630
|
0.00002
|
|
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)
|
rs774317818
|
0.00002
|
|
NM_182961.4(SYNE1):c.26344C>G (p.Arg8782Gly)
|
rs894581389
|
0.00002
|
|
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
|
rs549751416
|
0.00002
|
|
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr)
|
rs570242828
|
0.00002
|
|
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val)
|
rs746060505
|
0.00002
|
|
NM_182961.4(SYNE1):c.3916C>A (p.Leu1306Met)
|
rs1454797342
|
0.00002
|
|
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe)
|
rs151002514
|
0.00002
|
|
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln)
|
rs749115727
|
0.00002
|
|
NM_182961.4(SYNE1):c.530A>G (p.Gln177Arg)
|
rs1376478156
|
0.00002
|
|
NM_182961.4(SYNE1):c.5530G>C (p.Gly1844Arg)
|
rs370008773
|
0.00002
|
|
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala)
|
rs773890189
|
0.00002
|
|
NM_182961.4(SYNE1):c.6086A>C (p.Asn2029Thr)
|
rs201522015
|
0.00002
|
|
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser)
|
rs200432574
|
0.00002
|
|
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
|
rs749290417
|
0.00002
|
|
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His)
|
rs755821648
|
0.00002
|
|
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
|
rs773929134
|
0.00002
|
|
NM_182961.4(SYNE1):c.8551G>A (p.Glu2851Lys)
|
rs371684437
|
0.00002
|
|
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)
|
rs766072795
|
0.00002
|
|
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln)
|
rs747634832
|
0.00002
|
|
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)
|
rs746689638
|
0.00002
|
|
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
|
rs775375977
|
0.00002
|
|
NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)
|
rs553922513
|
0.00002
|
|
NM_198576.4(AGRN):c.1718C>T (p.Thr573Met)
|
rs757402635
|
0.00002
|
|
NM_198576.4(AGRN):c.3394A>C (p.Lys1132Gln)
|
rs1199250838
|
0.00002
|
|
NM_198576.4(AGRN):c.4114G>A (p.Ala1372Thr)
|
rs376441344
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.268T>G (p.Cys90Gly)
|
rs1443371091
|
0.00002
|
|
NM_198904.4(GABRG2):c.21G>C (p.Trp7Cys)
|
rs764172866
|
0.00002
|
|
NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
|
rs780097068
|
0.00002
|
|
NM_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu)
|
rs368575094
|
0.00002
|
|
NM_201384.3(PLEC):c.10129C>T (p.Arg3377Trp)
|
rs782682738
|
0.00002
|
|
NM_201384.3(PLEC):c.1046C>T (p.Ala349Val)
|
rs1016236688
|
0.00002
|
|
NM_201384.3(PLEC):c.10474G>A (p.Gly3492Ser)
|
rs544332992
|
0.00002
|
|
NM_201384.3(PLEC):c.10517G>C (p.Ser3506Thr)
|
rs1041184401
|
0.00002
|
|
NM_201384.3(PLEC):c.10732G>A (p.Gly3578Ser)
|
rs782222673
|
0.00002
|
|
NM_201384.3(PLEC):c.10831G>A (p.Gly3611Ser)
|
rs201595670
|
0.00002
|
|
NM_201384.3(PLEC):c.10937G>A (p.Arg3646His)
|
rs562181035
|
0.00002
|
|
NM_201384.3(PLEC):c.11032G>A (p.Glu3678Lys)
|
rs782377451
|
0.00002
|
|
NM_201384.3(PLEC):c.11428G>A (p.Val3810Met)
|
rs781838084
|
0.00002
|
|
NM_201384.3(PLEC):c.11974C>T (p.Arg3992Cys)
|
rs782528455
|
0.00002
|
|
NM_201384.3(PLEC):c.12217G>A (p.Asp4073Asn)
|
rs781880129
|
0.00002
|
|
NM_201384.3(PLEC):c.12341C>T (p.Thr4114Met)
|
rs377244187
|
0.00002
|
|
NM_201384.3(PLEC):c.12376C>T (p.Arg4126Trp)
|
rs782705985
|
0.00002
|
|
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)
|
rs782674838
|
0.00002
|
|
NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)
|
rs782789434
|
0.00002
|
|
NM_201384.3(PLEC):c.13096A>G (p.Thr4366Ala)
|
rs782537151
|
0.00002
|
|
NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser)
|
rs782419427
|
0.00002
|
|
NM_201384.3(PLEC):c.1721G>A (p.Arg574Gln)
|
rs782426860
|
0.00002
|
|
NM_201384.3(PLEC):c.1872C>T (p.Ala624=)
|
rs782547448
|
0.00002
|
|
NM_201384.3(PLEC):c.2041C>T (p.Arg681Trp)
|
rs781892147
|
0.00002
|
|
NM_201384.3(PLEC):c.269G>A (p.Arg90Gln)
|
rs782376931
|
0.00002
|
|
NM_201384.3(PLEC):c.3467C>A (p.Ala1156Glu)
|
rs782294942
|
0.00002
|
|
NM_201384.3(PLEC):c.3481G>A (p.Glu1161Lys)
|
rs1298210653
|
0.00002
|
|
NM_201384.3(PLEC):c.3560G>A (p.Arg1187His)
|
rs782730877
|
0.00002
|
|
NM_201384.3(PLEC):c.3586G>A (p.Asp1196Asn)
|
rs782221430
|
0.00002
|
|
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)
|
rs377125427
|
0.00002
|
|
NM_201384.3(PLEC):c.382G>A (p.Gly128Ser)
|
rs1309847765
|
0.00002
|
|
NM_201384.3(PLEC):c.3866A>T (p.Tyr1289Phe)
|
rs782550405
|
0.00002
|
|
NM_201384.3(PLEC):c.4025G>A (p.Arg1342Gln)
|
rs781815166
|
0.00002
|
|
NM_201384.3(PLEC):c.4103C>T (p.Ala1368Val)
|
rs782687982
|
0.00002
|
|
NM_201384.3(PLEC):c.4129G>A (p.Glu1377Lys)
|
rs782189077
|
0.00002
|
|
NM_201384.3(PLEC):c.4133C>T (p.Ala1378Val)
|
rs782590460
|
0.00002
|
|
NM_201384.3(PLEC):c.4145C>T (p.Ala1382Val)
|
rs1367834557
|
0.00002
|
|
NM_201384.3(PLEC):c.4231G>A (p.Ala1411Thr)
|
rs782461527
|
0.00002
|
|
NM_201384.3(PLEC):c.5063A>G (p.Glu1688Gly)
|
rs1038571028
|
0.00002
|
|
NM_201384.3(PLEC):c.5413C>T (p.Arg1805Cys)
|
rs782820715
|
0.00002
|
|
NM_201384.3(PLEC):c.5537C>T (p.Thr1846Met)
|
rs573828495
|
0.00002
|
|
NM_201384.3(PLEC):c.5680C>T (p.Arg1894Cys)
|
rs782597430
|
0.00002
|
|
NM_201384.3(PLEC):c.5984C>T (p.Ala1995Val)
|
rs782351441
|
0.00002
|
|
NM_201384.3(PLEC):c.599A>G (p.His200Arg)
|
rs1348737696
|
0.00002
|
|
NM_201384.3(PLEC):c.6131A>G (p.Gln2044Arg)
|
rs782345829
|
0.00002
|
|
NM_201384.3(PLEC):c.6259C>T (p.Arg2087Trp)
|
rs782738721
|
0.00002
|
|
NM_201384.3(PLEC):c.6736C>T (p.Arg2246Cys)
|
rs574445074
|
0.00002
|
|
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys)
|
rs371749261
|
0.00002
|
|
NM_201384.3(PLEC):c.6872C>T (p.Ala2291Val)
|
rs547807861
|
0.00002
|
|
NM_201384.3(PLEC):c.6913C>T (p.Arg2305Trp)
|
rs781995144
|
0.00002
|
|
NM_201384.3(PLEC):c.6986C>T (p.Ala2329Val)
|
rs542830621
|
0.00002
|
|
NM_201384.3(PLEC):c.7028C>T (p.Ala2343Val)
|
rs373446919
|
0.00002
|
|
NM_201384.3(PLEC):c.7044G>C (p.Glu2348Asp)
|
rs782060299
|
0.00002
|
|
NM_201384.3(PLEC):c.7138G>A (p.Ala2380Thr)
|
rs531930290
|
0.00002
|
|
NM_201384.3(PLEC):c.7151G>A (p.Arg2384His)
|
rs201594706
|
0.00002
|
|
NM_201384.3(PLEC):c.7463C>T (p.Thr2488Met)
|
rs989906646
|
0.00002
|
|
NM_201384.3(PLEC):c.7702C>T (p.Arg2568Cys)
|
rs782300712
|
0.00002
|
|
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)
|
rs782485083
|
0.00002
|
|
NM_201384.3(PLEC):c.7909G>A (p.Ala2637Thr)
|
rs782010111
|
0.00002
|
|
NM_201384.3(PLEC):c.7952G>A (p.Arg2651Gln)
|
rs375411469
|
0.00002
|
|
NM_201384.3(PLEC):c.8306C>T (p.Ser2769Leu)
|
rs368412208
|
0.00002
|
|
NM_201384.3(PLEC):c.8324C>G (p.Thr2775Ser)
|
rs782209648
|
0.00002
|
|
NM_201384.3(PLEC):c.9061C>T (p.Arg3021Trp)
|
rs782202018
|
0.00002
|
|
NM_201384.3(PLEC):c.9340G>A (p.Val3114Ile)
|
rs768376288
|
0.00002
|
|
NM_201384.3(PLEC):c.9404A>G (p.Asp3135Gly)
|
rs782160395
|
0.00002
|
|
NM_201384.3(PLEC):c.9691C>T (p.Arg3231Cys)
|
rs781821437
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu)
|
rs765746949
|
0.00002
|
|
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser)
|
rs371958110
|
0.00002
|
|
NM_203447.4(DOCK8):c.2350C>T (p.Arg784Cys)
|
rs1251716138
|
0.00002
|
|
NM_205836.3(FBXO38):c.91A>C (p.Asn31His)
|
rs112086763
|
0.00002
|
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
|
NM_207361.6(FREM2):c.4378A>G (p.Ile1460Val)
|
rs377575271
|
0.00002
|
|
NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)
|
rs1242415839
|
0.00002
|
|
NM_213595.4(ISCU):c.484G>T (p.Gly162Ter)
|
rs200756181
|
0.00002
|
|
NM_213599.3(ANO5):c.1211G>A (p.Arg404Gln)
|
rs375834855
|
0.00002
|
|
NM_213599.3(ANO5):c.136A>G (p.Met46Val)
|
rs537770163
|
0.00002
|
|
NM_213599.3(ANO5):c.138+9C>T
|
rs535319996
|
0.00002
|
|
NM_213599.3(ANO5):c.1921C>T (p.Arg641Cys)
|
rs372674175
|
0.00002
|
|
NM_213599.3(ANO5):c.1922G>A (p.Arg641His)
|
rs200265848
|
0.00002
|
|
NM_213599.3(ANO5):c.2414+3G>A
|
rs199548403
|
0.00002
|
|
NM_213599.3(ANO5):c.2578G>C (p.Asp860His)
|
rs145362994
|
0.00002
|
|
NM_213599.3(ANO5):c.2711A>T (p.Asn904Ile)
|
rs772279212
|
0.00002
|
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00001
|
|
NM_000016.6(ACADM):c.719T>C (p.Met240Thr)
|
rs1648075610
|
0.00001
|
|
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg)
|
rs1181743442
|
0.00001
|
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
|
NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)
|
rs780182404
|
0.00001
|
|
NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)
|
rs754123613
|
0.00001
|
|
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)
|
rs754207297
|
0.00001
|
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
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_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
|
NM_000022.4(ADA):c.349T>C (p.Trp117Arg)
|
rs771162170
|
0.00001
|
|
NM_000022.4(ADA):c.355C>A (p.Gln119Lys)
|
rs773612521
|
0.00001
|
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
|
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)
|
rs368243053
|
0.00001
|
|
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)
|
rs150524482
|
0.00001
|
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
0.00001
|
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
|
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
|
rs1904771955
|
0.00001
|
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
0.00001
|
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
|
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
|
rs746412103
|
0.00001
|
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
|
NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
|
rs749965562
|
0.00001
|
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
|
NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)
|
rs1271834515
|
0.00001
|
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
|
NM_000032.5(ALAS2):c.1679G>A (p.Arg560His)
|
rs892041887
|
0.00001
|
|
NM_000032.5(ALAS2):c.287T>C (p.Val96Ala)
|
rs376070748
|
0.00001
|
|
NM_000032.5(ALAS2):c.314G>A (p.Ser105Asn)
|
rs1314932968
|
0.00001
|
|
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys)
|
rs782007706
|
0.00001
|
|
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)
|
rs1159943880
|
0.00001
|
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
rs201427153
|
0.00001
|
|
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val)
|
rs782740513
|
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_000033.4(ABCD1):c.664G>A (p.Val222Met)
|
rs781951552
|
0.00001
|
|
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
|
rs781528554
|
0.00001
|
|
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
|
rs753932146
|
0.00001
|
|
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
|
rs759135029
|
0.00001
|
|
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
|
rs557077718
|
0.00001
|
|
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter)
|
rs377185948
|
0.00001
|
|
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
|
rs182610890
|
0.00001
|
|
NM_000036.3(AMPD1):c.35-2A>G
|
rs2526387771
|
0.00001
|
|
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn)
|
rs866261066
|
0.00001
|
|
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu)
|
rs886044350
|
0.00001
|
|
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile)
|
rs768063027
|
0.00001
|
|
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
|
rs769870526
|
0.00001
|
|
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
|
rs763653903
|
0.00001
|
|
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
|
rs758454168
|
0.00001
|
|
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
|
rs775457067
|
0.00001
|
|
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
|
rs1035590521
|
0.00001
|
|
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
|
rs532269443
|
0.00001
|
|
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)
|
rs781092462
|
0.00001
|
|
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
|
rs1036457270
|
0.00001
|
|
NM_000038.6(APC):c.3648G>T (p.Glu1216Asp)
|
rs1765483030
|
0.00001
|
|
NM_000038.6(APC):c.5399A>G (p.Asn1800Ser)
|
rs865782682
|
0.00001
|
|
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)
|
rs774952444
|
0.00001
|
|
NM_000045.4(ARG1):c.589T>C (p.Tyr197His)
|
rs771334658
|
0.00001
|
|
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
|
rs749405464
|
0.00001
|
|
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
|
rs1211112295
|
0.00001
|
|
NM_000048.4(ASL):c.976C>A (p.Gln326Lys)
|
rs398123129
|
0.00001
|
|
NM_000051.4(ATM):c.2075G>A (p.Arg692His)
|
rs751515818
|
0.00001
|
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
|
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)
|
rs1457236338
|
0.00001
|
|
NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu)
|
rs757682276
|
0.00001
|
|
NM_000054.7(AVPR2):c.202C>T (p.Arg68Trp)
|
rs782054894
|
0.00001
|
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
0.00001
|
|
NM_000059.4(BRCA2):c.3395A>G (p.Lys1132Arg)
|
rs80358582
|
0.00001
|
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
|
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)
|
rs587782320
|
0.00001
|
|
NM_000059.4(BRCA2):c.6401A>G (p.Asn2134Ser)
|
rs2072554340
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
0.00001
|
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
0.00001
|
|
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser)
|
rs749484478
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1535T>C (p.Leu512Pro)
|
rs1221759669
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3035C>G (p.Thr1012Ser)
|
rs147160867
|
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.4546G>C (p.Asp1516His)
|
rs764330337
|
0.00001
|
|
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)
|
rs757755172
|
0.00001
|
|
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu)
|
rs746311413
|
0.00001
|
|
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr)
|
rs367863862
|
0.00001
|
|
NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)
|
rs549092966
|
0.00001
|
|
NM_000070.3(CAPN3):c.1489G>C (p.Ala497Pro)
|
rs764770392
|
0.00001
|
|
NM_000070.3(CAPN3):c.1550A>G (p.Lys517Arg)
|
rs2053910556
|
0.00001
|
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
|
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg)
|
rs753338235
|
0.00001
|
|
NM_000070.3(CAPN3):c.1988G>A (p.Gly663Glu)
|
rs2054132063
|
0.00001
|
|
NM_000070.3(CAPN3):c.2033A>T (p.Asn678Ile)
|
rs767593985
|
0.00001
|
|
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp)
|
rs750162858
|
0.00001
|
|
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)
|
rs760626912
|
0.00001
|
|
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg)
|
rs1173872855
|
0.00001
|
|
NM_000070.3(CAPN3):c.452A>C (p.His151Pro)
|
rs766369281
|
0.00001
|
|
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr)
|
rs1177741110
|
0.00001
|
|
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=)
|
rs1401194449
|
0.00001
|
|
NM_000070.3(CAPN3):c.742A>G (p.Met248Val)
|
rs1414687788
|
0.00001
|
|
NM_000070.3(CAPN3):c.922G>C (p.Gly308Arg)
|
rs1382700455
|
0.00001
|
|
NM_000070.3(CAPN3):c.946-29del
|
rs1595826640
|
0.00001
|
|
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)
|
rs863223437
|
0.00001
|
|
NM_000077.5(CDKN2A):c.239G>C (p.Arg80Pro)
|
rs1057519883
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val)
|
rs755304714
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)
|
rs747224747
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=)
|
rs767048858
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg)
|
rs776811077
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile)
|
rs754320308
|
0.00001
|
|
NM_000079.4(CHRNA1):c.145G>A (p.Val49Met)
|
rs1019158028
|
0.00001
|
|
NM_000079.4(CHRNA1):c.177G>C (p.Gln59His)
|
rs199899006
|
0.00001
|
|
NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)
|
rs1419364118
|
0.00001
|
|
NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser)
|
rs1235810008
|
0.00001
|
|
NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met)
|
rs200163630
|
0.00001
|
|
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met)
|
rs137852799
|
0.00001
|
|
NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg)
|
rs201147926
|
0.00001
|
|
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile)
|
rs781253835
|
0.00001
|
|
NM_000080.4(CHRNE):c.1191G>T (p.Gly397=)
|
rs779084533
|
0.00001
|
|
NM_000080.4(CHRNE):c.1201C>T (p.Arg401Trp)
|
rs551856227
|
0.00001
|
|
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys)
|
rs754975887
|
0.00001
|
|
NM_000080.4(CHRNE):c.1406G>C (p.Gly469Ala)
|
rs1346830083
|
0.00001
|
|
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe)
|
rs370840663
|
0.00001
|
|
NM_000080.4(CHRNE):c.208C>T (p.Leu70Phe)
|
rs1267439107
|
0.00001
|
|
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala)
|
rs1440717363
|
0.00001
|
|
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro)
|
rs772495418
|
0.00001
|
|
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser)
|
rs771356927
|
0.00001
|
|
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser)
|
rs764552360
|
0.00001
|
|
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
|
rs1660837284
|
0.00001
|
|
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
|
rs770638775
|
0.00001
|
|
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
|
rs776142039
|
0.00001
|
|
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser)
|
rs1481260242
|
0.00001
|
|
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
|
rs1176492788
|
0.00001
|
|
NM_000081.4(LYST):c.1412C>T (p.Ala471Val)
|
rs775955971
|
0.00001
|
|
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
|
rs1451315699
|
0.00001
|
|
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)
|
rs376496670
|
0.00001
|
|
NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)
|
rs1672414011
|
0.00001
|
|
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
|
rs768197548
|
0.00001
|
|
NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)
|
rs779154700
|
0.00001
|
|
NM_000081.4(LYST):c.655A>G (p.Met219Val)
|
rs753038724
|
0.00001
|
|
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
|
rs373212564
|
0.00001
|
|
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
|
rs375297185
|
0.00001
|
|
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
|
rs745989710
|
0.00001
|
|
NM_000081.4(LYST):c.737T>C (p.Val246Ala)
|
rs764221345
|
0.00001
|
|
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
|
rs762146710
|
0.00001
|
|
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
|
rs911153079
|
0.00001
|
|
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp)
|
rs761351181
|
0.00001
|
|
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
|
rs376300162
|
0.00001
|
|
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
|
rs769517790
|
0.00001
|
|
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
|
rs1256013991
|
0.00001
|
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
|
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys)
|
rs889073641
|
0.00001
|
|
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser)
|
rs375292685
|
0.00001
|
|
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met)
|
rs200371691
|
0.00001
|
|
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe)
|
rs2116855321
|
0.00001
|
|
NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile)
|
rs1410524240
|
0.00001
|
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
|
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
|
rs747166328
|
0.00001
|
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
|
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
|
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
|
rs143825889
|
0.00001
|
|
NM_000083.3(CLCN1):c.1857T>C (p.Ser619=)
|
rs1416670894
|
0.00001
|
|
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)
|
rs772430525
|
0.00001
|
|
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly)
|
rs760693424
|
0.00001
|
|
NM_000083.3(CLCN1):c.1936A>G (p.Met646Val)
|
rs1156766492
|
0.00001
|
|
NM_000083.3(CLCN1):c.194A>G (p.His65Arg)
|
rs1802376355
|
0.00001
|
|
NM_000083.3(CLCN1):c.2059G>C (p.Asp687His)
|
rs371792469
|
0.00001
|
|
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg)
|
rs755433272
|
0.00001
|
|
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
|
rs776287053
|
0.00001
|
|
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met)
|
rs756135571
|
0.00001
|
|
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His)
|
rs147068247
|
0.00001
|
|
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)
|
rs1586483178
|
0.00001
|
|
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
|
rs759576185
|
0.00001
|
|
NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn)
|
rs761111883
|
0.00001
|
|
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr)
|
rs140726900
|
0.00001
|
|
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)
|
rs80356686
|
0.00001
|
|
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)
|
rs769612798
|
0.00001
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
0.00001
|
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
|
NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro)
|
rs1207868159
|
0.00001
|
|
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)
|
rs758897245
|
0.00001
|
|
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu)
|
rs748149807
|
0.00001
|
|
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
|
rs1906845686
|
0.00001
|
|
NM_000088.4(COL1A1):c.804+3G>A
|
rs371309429
|
0.00001
|
|
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu)
|
rs1204582322
|
0.00001
|
|
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His)
|
rs750815565
|
0.00001
|
|
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala)
|
rs574831241
|
0.00001
|
|
NM_000090.4(COL3A1):c.1676A>T (p.Glu559Val)
|
rs794728047
|
0.00001
|
|
NM_000090.4(COL3A1):c.245G>A (p.Gly82Glu)
|
rs745961376
|
0.00001
|
|
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
|
rs796246255
|
0.00001
|
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
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.1756C>A (p.His586Asn)
|
rs757624919
|
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.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
|
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
|
rs765217611
|
0.00001
|
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
|
NM_000096.4(CP):c.1169T>C (p.Ile390Thr)
|
rs757977435
|
0.00001
|
|
NM_000096.4(CP):c.1333C>T (p.His445Tyr)
|
rs1002980718
|
0.00001
|
|
NM_000096.4(CP):c.2677T>G (p.Leu893Val)
|
rs769138783
|
0.00001
|
|
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met)
|
rs756414686
|
0.00001
|
|
NM_000098.3(CPT2):c.623A>G (p.Asn208Ser)
|
rs1274903903
|
0.00001
|
|
NM_000099.4(CST3):c.212G>A (p.Arg71His)
|
rs11542360
|
0.00001
|
|
NM_000113.3(TOR1A):c.860C>A (p.Ser287Tyr)
|
rs766483672
|
0.00001
|
|
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)
|
rs782222974
|
0.00001
|
|
NM_000117.3(EMD):c.400G>A (p.Val134Met)
|
rs201250825
|
0.00001
|
|
NM_000117.3(EMD):c.403C>T (p.His135Tyr)
|
rs782110153
|
0.00001
|
|
NM_000117.3(EMD):c.455G>A (p.Arg152His)
|
rs782317753
|
0.00001
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
0.00001
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
0.00001
|
|
NM_000123.4(ERCC5):c.833C>T (p.Ser278Leu)
|
rs2140526356
|
0.00001
|
|
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met)
|
rs374470147
|
0.00001
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
rs762041972
|
0.00001
|
|
NM_000130.5(F5):c.5788+3A>G
|
rs767556078
|
0.00001
|
|
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
|
rs912838333
|
0.00001
|
|
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)
|
rs769970040
|
0.00001
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
0.00001
|
|
NM_000136.3(FANCC):c.166-4_166-1dup
|
rs746016938
|
0.00001
|
|
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)
|
rs372338418
|
0.00001
|
|
NM_000138.5(FBN1):c.1560G>C (p.Gln520His)
|
rs143253318
|
0.00001
|
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00001
|
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
0.00001
|
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
|
NM_000152.5(GAA):c.1244C>T (p.Thr415Met)
|
rs374842126
|
0.00001
|
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
|
NM_000152.5(GAA):c.1437+3A>G
|
rs2143867314
|
0.00001
|
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
|
NM_000152.5(GAA):c.158A>G (p.His53Arg)
|
rs780554430
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
|
NM_000152.5(GAA):c.2093C>A (p.Ala698Asp)
|
rs1001458871
|
0.00001
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
0.00001
|
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
rs367779589
|
0.00001
|
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
|
NM_000152.5(GAA):c.2635C>G (p.Leu879Val)
|
rs748064612
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
0.00001
|
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
rs1370160746
|
0.00001
|
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
0.00001
|
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
rs1005162016
|
0.00001
|
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
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.1027G>T (p.Val343Leu)
|
rs753217734
|
0.00001
|
|
NM_000153.4(GALC):c.1835C>T (p.Ala612Val)
|
rs1468731789
|
0.00001
|
|
NM_000153.4(GALC):c.1896C>G (p.Leu632=)
|
rs1884764241
|
0.00001
|
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
|
NM_000153.4(GALC):c.2039T>C (p.Leu680Pro)
|
rs201596265
|
0.00001
|
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
|
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)
|
rs746487628
|
0.00001
|
|
NM_000153.4(GALC):c.365A>G (p.Asp122Gly)
|
rs1886982097
|
0.00001
|
|
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
|
rs1886495923
|
0.00001
|
|
NM_000153.4(GALC):c.977C>T (p.Thr326Met)
|
rs748094096
|
0.00001
|
|
NM_000154.2(GALK1):c.658G>A (p.Val220Met)
|
rs746635166
|
0.00001
|
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
|
NM_000155.4(GALT):c.875C>T (p.Thr292Met)
|
rs369227288
|
0.00001
|
|
NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)
|
rs760930573
|
0.00001
|
|
NM_000157.4(GBA1):c.40C>T (p.Pro14Ser)
|
rs371238435
|
0.00001
|
|
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)
|
rs80222298
|
0.00001
|
|
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met)
|
rs751619568
|
0.00001
|
|
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
|
rs964120096
|
0.00001
|
|
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
|
rs572708424
|
0.00001
|
|
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
|
rs376374984
|
0.00001
|
|
NM_000158.4(GBE1):c.493G>T (p.Val165Phe)
|
rs1280227376
|
0.00001
|
|
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)
|
rs1555751336
|
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_000168.6(GLI3):c.2845G>A (p.Glu949Lys)
|
rs1472519342
|
0.00001
|
|
NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg)
|
rs768034418
|
0.00001
|
|
NM_000168.6(GLI3):c.687T>A (p.His229Gln)
|
rs765636197
|
0.00001
|
|
NM_000169.3(GLA):c.122C>G (p.Thr41Ser)
|
rs782362194
|
0.00001
|
|
NM_000169.3(GLA):c.179C>T (p.Pro60Leu)
|
rs869312262
|
0.00001
|
|
NM_000169.3(GLA):c.316C>T (p.Leu106Phe)
|
rs1178979608
|
0.00001
|
|
NM_000169.3(GLA):c.547+397G>A
|
rs1220800965
|
0.00001
|
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
|
NM_000171.4(GLRA1):c.523A>G (p.Met175Val)
|
rs121918414
|
0.00001
|
|
NM_000173.7(GP1BA):c.1795C>T (p.Arg599Ter)
|
rs1424382030
|
0.00001
|
|
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
|
rs940137788
|
0.00001
|
|
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr)
|
rs547475819
|
0.00001
|
|
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
|
rs376016521
|
0.00001
|
|
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
|
rs1447174024
|
0.00001
|
|
NM_000176.3(NR3C1):c.641G>A (p.Arg214Lys)
|
rs1561784285
|
0.00001
|
|
NM_000178.4(GSS):c.204G>T (p.Val68=)
|
rs2081519190
|
0.00001
|
|
NM_000178.4(GSS):c.473G>A (p.Arg158Gln)
|
rs759122483
|
0.00001
|
|
NM_000178.4(GSS):c.689+3A>G
|
rs760922408
|
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_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln)
|
rs751520851
|
0.00001
|
|
NM_000180.4(GUCY2D):c.156C>T (p.Ala52=)
|
rs775228379
|
0.00001
|
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
|
NM_000181.4(GUSB):c.1285G>A (p.Val429Met)
|
rs376131143
|
0.00001
|
|
NM_000181.4(GUSB):c.1742T>C (p.Val581Ala)
|
rs765136502
|
0.00001
|
|
NM_000182.5(HADHA):c.985G>C (p.Glu329Gln)
|
rs770874291
|
0.00001
|
|
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
|
rs934809554
|
0.00001
|
|
NM_000188.3(HK1):c.1174G>A (p.Ala392Thr)
|
rs140290094
|
0.00001
|
|
NM_000188.3(HK1):c.1256C>T (p.Thr419Met)
|
rs749146198
|
0.00001
|
|
NM_000188.3(HK1):c.1400A>T (p.His467Leu)
|
rs780919269
|
0.00001
|
|
NM_000188.3(HK1):c.1829G>A (p.Ser610Asn)
|
rs762347400
|
0.00001
|
|
NM_000188.3(HK1):c.2146G>A (p.Gly716Arg)
|
rs895581035
|
0.00001
|
|
NM_000188.3(HK1):c.2278G>A (p.Asp760Asn)
|
rs773954502
|
0.00001
|
|
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
|
rs373871387
|
0.00001
|
|
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
|
rs933261021
|
0.00001
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
rs752132032
|
0.00001
|
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
|
NM_000199.5(SGSH):c.475G>A (p.Val159Ile)
|
rs755749619
|
0.00001
|
|
NM_000202.8(IDS):c.785T>A (p.Val262Glu)
|
rs782053689
|
0.00001
|
|
NM_000202.8(IDS):c.890G>A (p.Arg297His)
|
rs1290154616
|
0.00001
|
|
NM_000203.5(IDUA):c.1040G>A (p.Ser347Asn)
|
rs780106243
|
0.00001
|
|
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
|
rs772855552
|
0.00001
|
|
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
|
NM_000203.5(IDUA):c.1102C>T (p.Arg368Cys)
|
rs754681846
|
0.00001
|
|
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
|
rs1038727823
|
0.00001
|
|
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
|
rs751396984
|
0.00001
|
|
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)
|
rs1553917309
|
0.00001
|
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
|
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
|
rs1455637147
|
0.00001
|
|
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val)
|
rs1253435204
|
0.00001
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
rs1715177435
|
0.00001
|
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
0.00001
|
|
NM_000203.5(IDUA):c.1304G>A (p.Arg435His)
|
rs1036950284
|
0.00001
|
|
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
|
rs1316884593
|
0.00001
|
|
NM_000203.5(IDUA):c.1430A>G (p.Asp477Gly)
|
rs749645656
|
0.00001
|
|
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
|
rs746018077
|
0.00001
|
|
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys)
|
rs1436395282
|
0.00001
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
rs374779600
|
0.00001
|
|
NM_000203.5(IDUA):c.1615C>T (p.His539Tyr)
|
rs766982215
|
0.00001
|
|
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu)
|
rs778877259
|
0.00001
|
|
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
|
rs776276938
|
0.00001
|
|
NM_000203.5(IDUA):c.1673C>T (p.Pro558Leu)
|
rs759777644
|
0.00001
|
|
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
|
rs146588560
|
0.00001
|
|
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys)
|
rs762037549
|
0.00001
|
|
NM_000203.5(IDUA):c.1816G>T (p.Val606Leu)
|
rs547144863
|
0.00001
|
|
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
|
rs762399936
|
0.00001
|
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
|
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
|
rs751792135
|
0.00001
|
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
|
NM_000203.5(IDUA):c.487T>C (p.Tyr163His)
|
rs1466543112
|
0.00001
|
|
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr)
|
rs762623046
|
0.00001
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
0.00001
|
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
|
NM_000203.5(IDUA):c.547C>T (p.Pro183Ser)
|
rs757706461
|
0.00001
|
|
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
|
rs1178237301
|
0.00001
|
|
NM_000203.5(IDUA):c.664G>A (p.Gly222Ser)
|
rs1367413817
|
0.00001
|
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
|
NM_000203.5(IDUA):c.782T>A (p.Leu261His)
|
rs1656615837
|
0.00001
|
|
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
|
rs375305122
|
0.00001
|
|
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
|
rs931510421
|
0.00001
|
|
NM_000203.5(IDUA):c.848T>C (p.Ile283Thr)
|
rs555091763
|
0.00001
|
|
NM_000203.5(IDUA):c.859T>C (p.Phe287Leu)
|
rs1301982320
|
0.00001
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
0.00001
|
|
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
|
rs113373271
|
0.00001
|
|
NM_000203.5(IDUA):c.925C>A (p.Pro309Thr)
|
rs750893089
|
0.00001
|
|
NM_000203.5(IDUA):c.962T>C (p.Met321Thr)
|
rs777732506
|
0.00001
|
|
NM_000203.5(IDUA):c.993C>G (p.Asn331Lys)
|
rs1318917960
|
0.00001
|
|
NM_000204.5(CFI):c.193T>C (p.Tyr65His)
|
rs774783110
|
0.00001
|
|
NM_000204.5(CFI):c.452A>G (p.Asn151Ser)
|
rs772044176
|
0.00001
|
|
NM_000208.4(INSR):c.739G>A (p.Asp247Asn)
|
rs770690301
|
0.00001
|
|
NM_000213.5(ITGB4):c.1675A>G (p.Met559Val)
|
rs547605316
|
0.00001
|
|
NM_000213.5(ITGB4):c.1910C>T (p.Ala637Val)
|
rs762476489
|
0.00001
|
|
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr)
|
rs201667840
|
0.00001
|
|
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys)
|
rs375017114
|
0.00001
|
|
NM_000215.4(JAK3):c.361C>T (p.Arg121Cys)
|
rs776850935
|
0.00001
|
|
NM_000216.4(ANOS1):c.1704C>A (p.His568Gln)
|
rs1929579074
|
0.00001
|
|
NM_000218.3(KCNQ1):c.592A>G (p.Ile198Val)
|
rs199472700
|
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.229G>A (p.Gly77Arg)
|
rs1188263354
|
0.00001
|
|
NM_000231.3(SGCG):c.34G>A (p.Gly12Ser)
|
rs761027747
|
0.00001
|
|
NM_000231.3(SGCG):c.352T>C (p.Ser118Pro)
|
rs766126721
|
0.00001
|
|
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)
|
rs544414698
|
0.00001
|
|
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp)
|
rs767605031
|
0.00001
|
|
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp)
|
rs748255972
|
0.00001
|
|
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
|
rs1004565968
|
0.00001
|
|
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
|
rs2475230399
|
0.00001
|
|
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu)
|
rs760596229
|
0.00001
|
|
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
|
rs769837788
|
0.00001
|
|
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
|
rs1391042030
|
0.00001
|
|
NM_000232.5(SGCB):c.429+5G>A
|
rs794727477
|
0.00001
|
|
NM_000232.5(SGCB):c.502A>G (p.Met168Val)
|
rs754465904
|
0.00001
|
|
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
|
rs1321180638
|
0.00001
|
|
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys)
|
rs529566743
|
0.00001
|
|
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
|
rs767102412
|
0.00001
|
|
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
|
rs556972226
|
0.00001
|
|
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp)
|
rs753684563
|
0.00001
|
|
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn)
|
rs758978727
|
0.00001
|
|
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp)
|
rs104895181
|
0.00001
|
|
NM_000245.4(MET):c.3244G>C (p.Glu1082Gln)
|
rs1584957997
|
0.00001
|
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
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_000252.3(MTM1):c.110G>A (p.Arg37Gln)
|
rs868992080
|
0.00001
|
|
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
|
rs1264102271
|
0.00001
|
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
|
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)
|
rs569669261
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
|
NM_000256.3(MYBPC3):c.73A>T (p.Ser25Cys)
|
rs749970304
|
0.00001
|
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
0.00001
|
|
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)
|
rs727503258
|
0.00001
|
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
|
NM_000257.4(MYH7):c.2855G>C (p.Arg952Thr)
|
rs1446444428
|
0.00001
|
|
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn)
|
rs730880765
|
0.00001
|
|
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu)
|
rs1000681552
|
0.00001
|
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
|
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu)
|
rs397516186
|
0.00001
|
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
|
NM_000257.4(MYH7):c.3977A>G (p.Lys1326Arg)
|
rs730880786
|
0.00001
|
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
|
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile)
|
rs753484341
|
0.00001
|
|
NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu)
|
rs1033511138
|
0.00001
|
|
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu)
|
rs727505329
|
0.00001
|
|
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)
|
rs121913647
|
0.00001
|
|
NM_000257.4(MYH7):c.4520-3C>T
|
rs549509054
|
0.00001
|
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
|
NM_000257.4(MYH7):c.481G>A (p.Ala161Thr)
|
rs552302426
|
0.00001
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
0.00001
|
|
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys)
|
rs773977507
|
0.00001
|
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
|
NM_000257.4(MYH7):c.5419G>A (p.Gly1807Ser)
|
rs745729408
|
0.00001
|
|
NM_000257.4(MYH7):c.5453G>A (p.Arg1818Gln)
|
rs730880819
|
0.00001
|
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
|
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly)
|
rs200157204
|
0.00001
|
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
|
NM_000257.4(MYH7):c.5556C>G (p.Tyr1852Ter)
|
rs730880823
|
0.00001
|
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
|
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)
|
rs1057522617
|
0.00001
|
|
NM_000257.4(MYH7):c.640-5T>A
|
rs866601695
|
0.00001
|
|
NM_000260.4(MYO7A):c.1039C>A (p.Leu347Ile)
|
rs183443251
|
0.00001
|
|
NM_000260.4(MYO7A):c.1786G>A (p.Asp596Asn)
|
rs782749694
|
0.00001
|
|
NM_000260.4(MYO7A):c.2051G>A (p.Arg684Gln)
|
rs782219701
|
0.00001
|
|
NM_000260.4(MYO7A):c.3002T>G (p.Phe1001Cys)
|
rs575191791
|
0.00001
|
|
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
|
rs372642675
|
0.00001
|
|
NM_000260.4(MYO7A):c.4246T>C (p.Tyr1416His)
|
rs750356179
|
0.00001
|
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
0.00001
|
|
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His)
|
rs1366288601
|
0.00001
|
|
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala)
|
rs1588574496
|
0.00001
|
|
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg)
|
rs181585555
|
0.00001
|
|
NM_000265.7(NCF1):c.575-6G>A
|
rs1796616678
|
0.00001
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
0.00001
|
|
NM_000268.4(NF2):c.403C>T (p.Pro135Ser)
|
rs2146893644
|
0.00001
|
|
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
|
rs1386029079
|
0.00001
|
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
|
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)
|
rs121918168
|
0.00001
|
|
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)
|
rs991727453
|
0.00001
|
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
|
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
|
rs1173177271
|
0.00001
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
0.00001
|
|
NM_000287.4(PEX6):c.2384C>T (p.Ala795Val)
|
rs760575572
|
0.00001
|
|
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
|
rs1310340050
|
0.00001
|
|
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
|
rs1950938952
|
0.00001
|
|
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
|
rs772369829
|
0.00001
|
|
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
|
rs574087792
|
0.00001
|
|
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
|
rs765238662
|
0.00001
|
|
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
|
rs185071030
|
0.00001
|
|
NM_000291.4(PGK1):c.575A>T (p.Lys192Met)
|
rs782204187
|
0.00001
|
|
NM_000293.3(PHKB):c.821G>A (p.Arg274His)
|
rs776018181
|
0.00001
|
|
NM_000297.4(PKD2):c.2428G>A (p.Asp810Asn)
|
rs775470869
|
0.00001
|
|
NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)
|
rs1032445911
|
0.00001
|
|
NM_000298.6(PKLR):c.1067T>C (p.Met356Thr)
|
rs752423472
|
0.00001
|
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
|
NM_000298.6(PKLR):c.1147C>G (p.Pro383Ala)
|
rs767333188
|
0.00001
|
|
NM_000298.6(PKLR):c.119G>A (p.Arg40Gln)
|
rs745811076
|
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.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
|
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
|
rs967010243
|
0.00001
|
|
NM_000298.6(PKLR):c.1553G>A (p.Arg518His)
|
rs771218326
|
0.00001
|
|
NM_000298.6(PKLR):c.1639C>T (p.Arg547Cys)
|
rs751050425
|
0.00001
|
|
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr)
|
rs1165604977
|
0.00001
|
|
NM_000298.6(PKLR):c.341T>C (p.Ile114Thr)
|
rs779517988
|
0.00001
|
|
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
|
rs757359024
|
0.00001
|
|
NM_000298.6(PKLR):c.695-3C>G
|
rs1013299610
|
0.00001
|
|
NM_000298.6(PKLR):c.733G>A (p.Val245Ile)
|
rs555712170
|
0.00001
|
|
NM_000301.5(PLG):c.435G>T (p.Glu145Asp)
|
rs781343369
|
0.00001
|
|
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
|
rs141809154
|
0.00001
|
|
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)
|
rs121918150
|
0.00001
|
|
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg)
|
rs987746060
|
0.00001
|
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
|
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
|
rs1949510396
|
0.00001
|
|
NM_000324.3(RHAG):c.138A>G (p.Ile46Met)
|
rs1294535938
|
0.00001
|
|
NM_000324.3(RHAG):c.172C>T (p.His58Tyr)
|
rs2532610683
|
0.00001
|
|
NM_000324.3(RHAG):c.267G>C (p.Leu89Phe)
|
rs755580358
|
0.00001
|
|
NM_000324.3(RHAG):c.437T>C (p.Ile146Thr)
|
rs751765811
|
0.00001
|
|
NM_000324.3(RHAG):c.514A>G (p.Met172Val)
|
rs759281201
|
0.00001
|
|
NM_000324.3(RHAG):c.532G>A (p.Gly178Arg)
|
rs1229253956
|
0.00001
|
|
NM_000324.3(RHAG):c.695C>T (p.Pro232Leu)
|
rs771118052
|
0.00001
|
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
|
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu)
|
rs1465194534
|
0.00001
|
|
NM_000334.4(SCN4A):c.1597G>A (p.Ala533Thr)
|
rs776005101
|
0.00001
|
|
NM_000334.4(SCN4A):c.1727T>C (p.Met576Thr)
|
rs1360545929
|
0.00001
|
|
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala)
|
rs1289461335
|
0.00001
|
|
NM_000334.4(SCN4A):c.1906G>A (p.Glu636Lys)
|
rs1428915702
|
0.00001
|
|
NM_000334.4(SCN4A):c.2180A>G (p.Lys727Arg)
|
rs1909102730
|
0.00001
|
|
NM_000334.4(SCN4A):c.2204T>G (p.Leu735Trp)
|
rs1326397511
|
0.00001
|
|
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=)
|
rs753779301
|
0.00001
|
|
NM_000334.4(SCN4A):c.2320G>A (p.Gly774Ser)
|
rs761212631
|
0.00001
|
|
NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu)
|
rs745492332
|
0.00001
|
|
NM_000334.4(SCN4A):c.2420C>T (p.Ala807Val)
|
rs749013806
|
0.00001
|
|
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp)
|
rs760713282
|
0.00001
|
|
NM_000334.4(SCN4A):c.2729A>T (p.Asp910Val)
|
rs565408498
|
0.00001
|
|
NM_000334.4(SCN4A):c.2780C>T (p.Ala927Val)
|
rs2144786597
|
0.00001
|
|
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val)
|
rs757508857
|
0.00001
|
|
NM_000334.4(SCN4A):c.2858C>T (p.Pro953Leu)
|
rs763401274
|
0.00001
|
|
NM_000334.4(SCN4A):c.2952C>A (p.Asn984Lys)
|
rs929800145
|
0.00001
|
|
NM_000334.4(SCN4A):c.3038G>A (p.Arg1013His)
|
rs578232775
|
0.00001
|
|
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)
|
rs371779795
|
0.00001
|
|
NM_000334.4(SCN4A):c.3172C>T (p.Arg1058Trp)
|
rs764018183
|
0.00001
|
|
NM_000334.4(SCN4A):c.3253G>A (p.Val1085Met)
|
rs2509294587
|
0.00001
|
|
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu)
|
rs1314399622
|
0.00001
|
|
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)
|
rs1287863349
|
0.00001
|
|
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His)
|
rs759107875
|
0.00001
|
|
NM_000334.4(SCN4A):c.3639G>A (p.Met1213Ile)
|
rs1267107348
|
0.00001
|
|
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
|
rs772250087
|
0.00001
|
|
NM_000334.4(SCN4A):c.3685A>G (p.Asn1229Asp)
|
rs746126027
|
0.00001
|
|
NM_000334.4(SCN4A):c.3760G>A (p.Val1254Met)
|
rs763136642
|
0.00001
|
|
NM_000334.4(SCN4A):c.3770G>A (p.Arg1257Gln)
|
rs1215570894
|
0.00001
|
|
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln)
|
rs1555601285
|
0.00001
|
|
NM_000334.4(SCN4A):c.393-1C>T
|
rs1199378574
|
0.00001
|
|
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met)
|
rs774452124
|
0.00001
|
|
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val)
|
rs748620733
|
0.00001
|
|
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)
|
rs758113478
|
0.00001
|
|
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr)
|
rs778417596
|
0.00001
|
|
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
|
rs1318966106
|
0.00001
|
|
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met)
|
rs939785324
|
0.00001
|
|
NM_000334.4(SCN4A):c.4615G>A (p.Asp1539Asn)
|
rs775792587
|
0.00001
|
|
NM_000334.4(SCN4A):c.4856T>C (p.Met1619Thr)
|
rs187323518
|
0.00001
|
|
NM_000334.4(SCN4A):c.4894A>T (p.Thr1632Ser)
|
rs1377336175
|
0.00001
|
|
NM_000334.4(SCN4A):c.5389G>A (p.Glu1797Lys)
|
rs1398520652
|
0.00001
|
|
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)
|
rs749251685
|
0.00001
|
|
NM_000334.4(SCN4A):c.5458G>A (p.Ala1820Thr)
|
rs775880707
|
0.00001
|
|
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp)
|
rs1300925199
|
0.00001
|
|
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
|
rs755953358
|
0.00001
|
|
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu)
|
rs751884584
|
0.00001
|
|
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)
|
rs746749167
|
0.00001
|
|
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys)
|
rs1909513788
|
0.00001
|
|
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)
|
rs377602871
|
0.00001
|
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
|
NM_000335.5(SCN5A):c.1960G>A (p.Glu654Lys)
|
rs199473138
|
0.00001
|
|
NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr)
|
rs794728939
|
0.00001
|
|
NM_000335.5(SCN5A):c.560C>G (p.Thr187Ser)
|
rs199473558
|
0.00001
|
|
NM_000336.3(SCNN1B):c.1108G>A (p.Val370Ile)
|
rs765382334
|
0.00001
|
|
NM_000336.3(SCNN1B):c.1270+6C>T
|
rs552841992
|
0.00001
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
0.00001
|
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
|
NM_000337.6(SGCD):c.354G>T (p.Gln118His)
|
rs770930747
|
0.00001
|
|
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)
|
rs956992133
|
0.00001
|
|
NM_000337.6(SGCD):c.547G>A (p.Val183Ile)
|
rs751421543
|
0.00001
|
|
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser)
|
rs794727901
|
0.00001
|
|
NM_000338.3(SLC12A1):c.2456T>C (p.Phe819Ser)
|
rs561055976
|
0.00001
|
|
NM_000338.3(SLC12A1):c.3003T>A (p.His1001Gln)
|
rs1447880380
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1147G>C (p.Val383Leu)
|
rs745866076
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1313C>T (p.Ser438Leu)
|
rs746715222
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)
|
rs754973425
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)
|
rs752788858
|
0.00001
|
|
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
|
rs758335896
|
0.00001
|
|
NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)
|
rs781490287
|
0.00001
|
|
NM_000342.4(SLC4A1):c.2713G>A (p.Asp905Asn)
|
rs776130740
|
0.00001
|
|
NM_000342.4(SLC4A1):c.421T>C (p.Phe141Leu)
|
rs1168035577
|
0.00001
|
|
NM_000342.4(SLC4A1):c.432G>T (p.Gln144His)
|
rs1270521728
|
0.00001
|
|
NM_000342.4(SLC4A1):c.437G>A (p.Arg146Gln)
|
rs777835021
|
0.00001
|
|
NM_000342.4(SLC4A1):c.55G>A (p.Glu19Lys)
|
rs55926998
|
0.00001
|
|
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)
|
rs746484104
|
0.00001
|
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
|
NM_000352.6(ABCC8):c.1363A>G (p.Ile455Val)
|
rs1238075497
|
0.00001
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
0.00001
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
0.00001
|
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
|
NM_000363.5(TNNI3):c.200A>T (p.Glu67Val)
|
rs760401006
|
0.00001
|
|
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)
|
rs730881084
|
0.00001
|
|
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
|
rs369720680
|
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_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
|
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)
|
rs984306144
|
0.00001
|
|
NM_000376.3(VDR):c.967C>G (p.Leu323Val)
|
rs1257181329
|
0.00001
|
|
NM_000379.4(XDH):c.1988G>A (p.Cys663Tyr)
|
rs773236306
|
0.00001
|
|
NM_000381.4(MID1):c.1415G>A (p.Arg472His)
|
rs370465458
|
0.00001
|
|
NM_000384.3(APOB):c.8394G>T (p.Glu2798Asp)
|
rs760517113
|
0.00001
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
rs146377316
|
0.00001
|
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
|
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly)
|
rs766653315
|
0.00001
|
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
|
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del)
|
rs1474804613
|
0.00001
|
|
NM_000391.4(TPP1):c.1438G>A (p.Val480Met)
|
rs1855555783
|
0.00001
|
|
NM_000391.4(TPP1):c.295G>A (p.Val99Met)
|
rs756622036
|
0.00001
|
|
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn)
|
rs1426277822
|
0.00001
|
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
|
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)
|
rs751269167
|
0.00001
|
|
NM_000419.5(ITGA2B):c.626C>T (p.Ala209Val)
|
rs143284768
|
0.00001
|
|
NM_000419.5(ITGA2B):c.945+9C>A
|
rs776521459
|
0.00001
|
|
NM_000424.4(KRT5):c.715C>T (p.Arg239Cys)
|
rs757766724
|
0.00001
|
|
NM_000424.4(KRT5):c.86G>A (p.Arg29His)
|
rs543574061
|
0.00001
|
|
NM_000426.4(LAMA2):c.1207G>A (p.Val403Ile)
|
rs768538467
|
0.00001
|
|
NM_000426.4(LAMA2):c.1249G>A (p.Asp417Asn)
|
rs201009816
|
0.00001
|
|
NM_000426.4(LAMA2):c.1589C>G (p.Ser530Cys)
|
rs760095810
|
0.00001
|
|
NM_000426.4(LAMA2):c.1601A>T (p.Tyr534Phe)
|
rs760843515
|
0.00001
|
|
NM_000426.4(LAMA2):c.1681T>G (p.Leu561Val)
|
rs765515681
|
0.00001
|
|
NM_000426.4(LAMA2):c.1748A>G (p.Tyr583Cys)
|
rs370965146
|
0.00001
|
|
NM_000426.4(LAMA2):c.2153C>A (p.Ala718Glu)
|
rs373673505
|
0.00001
|
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
|
NM_000426.4(LAMA2):c.2429C>T (p.Pro810Leu)
|
rs1250951882
|
0.00001
|
|
NM_000426.4(LAMA2):c.2450A>C (p.Asn817Thr)
|
rs775422845
|
0.00001
|
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
|
NM_000426.4(LAMA2):c.2687G>A (p.Arg896Gln)
|
rs753890194
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+24C>A
|
rs886038292
|
0.00001
|
|
NM_000426.4(LAMA2):c.281A>G (p.Asn94Ser)
|
rs758713214
|
0.00001
|
|
NM_000426.4(LAMA2):c.2827G>A (p.Val943Ile)
|
rs369724867
|
0.00001
|
|
NM_000426.4(LAMA2):c.2897C>T (p.Pro966Leu)
|
rs774276037
|
0.00001
|
|
NM_000426.4(LAMA2):c.2990A>G (p.Asp997Gly)
|
rs1239380946
|
0.00001
|
|
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr)
|
rs797045679
|
0.00001
|
|
NM_000426.4(LAMA2):c.3460G>A (p.Gly1154Arg)
|
rs756475916
|
0.00001
|
|
NM_000426.4(LAMA2):c.3610C>T (p.His1204Tyr)
|
rs771668852
|
0.00001
|
|
NM_000426.4(LAMA2):c.3661A>G (p.Met1221Val)
|
rs766732392
|
0.00001
|
|
NM_000426.4(LAMA2):c.3724G>A (p.Glu1242Lys)
|
rs375043898
|
0.00001
|
|
NM_000426.4(LAMA2):c.3757C>T (p.Leu1253Phe)
|
rs747856074
|
0.00001
|
|
NM_000426.4(LAMA2):c.3911T>A (p.Ile1304Asn)
|
rs1252493254
|
0.00001
|
|
NM_000426.4(LAMA2):c.3922G>C (p.Glu1308Gln)
|
rs1196130166
|
0.00001
|
|
NM_000426.4(LAMA2):c.3956G>A (p.Arg1319Gln)
|
rs780356271
|
0.00001
|
|
NM_000426.4(LAMA2):c.4059-3T>C
|
rs1236854134
|
0.00001
|
|
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del)
|
rs1446213044
|
0.00001
|
|
NM_000426.4(LAMA2):c.410C>T (p.Ala137Val)
|
rs138964034
|
0.00001
|
|
NM_000426.4(LAMA2):c.415G>A (p.Val139Met)
|
rs372414339
|
0.00001
|
|
NM_000426.4(LAMA2):c.4258T>C (p.Cys1420Arg)
|
rs145592885
|
0.00001
|
|
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln)
|
rs148103319
|
0.00001
|
|
NM_000426.4(LAMA2):c.4591C>A (p.Pro1531Thr)
|
rs774807922
|
0.00001
|
|
NM_000426.4(LAMA2):c.4882G>A (p.Ala1628Thr)
|
rs1239378825
|
0.00001
|
|
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)
|
rs201175472
|
0.00001
|
|
NM_000426.4(LAMA2):c.5143G>A (p.Glu1715Lys)
|
rs539321303
|
0.00001
|
|
NM_000426.4(LAMA2):c.5326C>A (p.Leu1776Met)
|
rs1779414370
|
0.00001
|
|
NM_000426.4(LAMA2):c.5552C>A (p.Ser1851Tyr)
|
rs758098650
|
0.00001
|
|
NM_000426.4(LAMA2):c.5627A>T (p.Asp1876Val)
|
rs776601177
|
0.00001
|
|
NM_000426.4(LAMA2):c.566C>T (p.Pro189Leu)
|
rs575725137
|
0.00001
|
|
NM_000426.4(LAMA2):c.5752T>A (p.Ser1918Thr)
|
rs1210657779
|
0.00001
|
|
NM_000426.4(LAMA2):c.5765C>T (p.Thr1922Ile)
|
rs751682186
|
0.00001
|
|
NM_000426.4(LAMA2):c.5827A>G (p.Lys1943Glu)
|
rs745361072
|
0.00001
|
|
NM_000426.4(LAMA2):c.5879G>A (p.Arg1960Gln)
|
rs375240974
|
0.00001
|
|
NM_000426.4(LAMA2):c.5899G>T (p.Ala1967Ser)
|
rs762129616
|
0.00001
|
|
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys)
|
rs769574222
|
0.00001
|
|
NM_000426.4(LAMA2):c.5949G>C (p.Lys1983Asn)
|
rs746291076
|
0.00001
|
|
NM_000426.4(LAMA2):c.5978A>G (p.Asp1993Gly)
|
rs752249871
|
0.00001
|
|
NM_000426.4(LAMA2):c.59T>C (p.Val20Ala)
|
rs746372774
|
0.00001
|
|
NM_000426.4(LAMA2):c.6151G>A (p.Val2051Ile)
|
rs768688454
|
0.00001
|
|
NM_000426.4(LAMA2):c.6183C>A (p.Asn2061Lys)
|
rs775825512
|
0.00001
|
|
NM_000426.4(LAMA2):c.6209A>G (p.Asn2070Ser)
|
rs1417717525
|
0.00001
|
|
NM_000426.4(LAMA2):c.6224G>A (p.Ser2075Asn)
|
rs910146690
|
0.00001
|
|
NM_000426.4(LAMA2):c.6277G>A (p.Ala2093Thr)
|
rs141857004
|
0.00001
|
|
NM_000426.4(LAMA2):c.6332A>T (p.Asp2111Val)
|
rs371697379
|
0.00001
|
|
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)
|
rs779326725
|
0.00001
|
|
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His)
|
rs546395293
|
0.00001
|
|
NM_000426.4(LAMA2):c.6990C>G (p.Val2330=)
|
rs977540447
|
0.00001
|
|
NM_000426.4(LAMA2):c.7067G>A (p.Arg2356His)
|
rs761365739
|
0.00001
|
|
NM_000426.4(LAMA2):c.708C>T (p.Thr236=)
|
rs925968707
|
0.00001
|
|
NM_000426.4(LAMA2):c.716G>A (p.Arg239His)
|
rs776777494
|
0.00001
|
|
NM_000426.4(LAMA2):c.7187G>A (p.Gly2396Glu)
|
rs763250991
|
0.00001
|
|
NM_000426.4(LAMA2):c.7196A>G (p.Lys2399Arg)
|
rs1454380679
|
0.00001
|
|
NM_000426.4(LAMA2):c.7426C>A (p.Leu2476Met)
|
rs963858482
|
0.00001
|
|
NM_000426.4(LAMA2):c.7469A>C (p.Lys2490Thr)
|
rs774596682
|
0.00001
|
|
NM_000426.4(LAMA2):c.7480G>A (p.Gly2494Ser)
|
rs775322557
|
0.00001
|
|
NM_000426.4(LAMA2):c.7537G>A (p.Asp2513Asn)
|
rs749794799
|
0.00001
|
|
NM_000426.4(LAMA2):c.7780C>T (p.Arg2594Cys)
|
rs546988105
|
0.00001
|
|
NM_000426.4(LAMA2):c.7875C>T (p.Ser2625=)
|
rs144448521
|
0.00001
|
|
NM_000426.4(LAMA2):c.8048G>A (p.Cys2683Tyr)
|
rs1262005769
|
0.00001
|
|
NM_000426.4(LAMA2):c.8240C>T (p.Thr2747Ile)
|
rs1784923539
|
0.00001
|
|
NM_000426.4(LAMA2):c.8290A>C (p.Lys2764Gln)
|
rs1785743822
|
0.00001
|
|
NM_000426.4(LAMA2):c.8337T>A (p.Asp2779Glu)
|
rs1289298927
|
0.00001
|
|
NM_000426.4(LAMA2):c.8411A>C (p.Tyr2804Ser)
|
rs780096795
|
0.00001
|
|
NM_000426.4(LAMA2):c.8780C>T (p.Ser2927Phe)
|
rs1217291901
|
0.00001
|
|
NM_000426.4(LAMA2):c.9026C>G (p.Thr3009Ser)
|
rs761150291
|
0.00001
|
|
NM_000426.4(LAMA2):c.9038A>C (p.Asp3013Ala)
|
rs765377729
|
0.00001
|
|
NM_000426.4(LAMA2):c.9106C>A (p.Arg3036Ser)
|
rs770673446
|
0.00001
|
|
NM_000426.4(LAMA2):c.9142G>A (p.Ala3048Thr)
|
rs550370351
|
0.00001
|
|
NM_000426.4(LAMA2):c.9223C>A (p.Gln3075Lys)
|
rs771012835
|
0.00001
|
|
NM_000429.3(MAT1A):c.1003T>C (p.Tyr335His)
|
rs757912932
|
0.00001
|
|
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)
|
rs199474809
|
0.00001
|
|
NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)
|
rs1762497008
|
0.00001
|
|
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly)
|
rs760245739
|
0.00001
|
|
NM_000435.3(NOTCH3):c.308G>A (p.Arg103Gln)
|
rs932099250
|
0.00001
|
|
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
|
rs753983081
|
0.00001
|
|
NM_000435.3(NOTCH3):c.900C>T (p.Cys300=)
|
rs749319462
|
0.00001
|
|
NM_000436.4(OXCT1):c.251G>A (p.Gly84Glu)
|
rs764963819
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2098A>G (p.Ile700Val)
|
rs2535349663
|
0.00001
|
|
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)
|
rs200706874
|
0.00001
|
|
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)
|
rs779885518
|
0.00001
|
|
NM_000443.4(ABCB4):c.2289T>G (p.Ile763Met)
|
rs777880618
|
0.00001
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
rs779829759
|
0.00001
|
|
NM_000443.4(ABCB4):c.3694C>T (p.Arg1232Cys)
|
rs369147999
|
0.00001
|
|
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)
|
rs766990714
|
0.00001
|
|
NM_000445.5(PLEC):c.150G>T (p.Gly50=)
|
rs201474629
|
0.00001
|
|
NM_000447.3(PSEN2):c.506A>G (p.His169Arg)
|
rs1661490243
|
0.00001
|
|
NM_000453.3(SLC5A5):c.1789G>A (p.Gly597Arg)
|
rs536886161
|
0.00001
|
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
|
NM_000463.3(UGT1A1):c.286G>A (p.Gly96Arg)
|
rs1208621089
|
0.00001
|
|
NM_000463.3(UGT1A1):c.611T>C (p.Met204Thr)
|
rs1171527500
|
0.00001
|
|
NM_000463.3(UGT1A1):c.673G>A (p.Val225Met)
|
rs144721642
|
0.00001
|
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
|
NM_000465.4(BARD1):c.115G>A (p.Ala39Thr)
|
rs753630023
|
0.00001
|
|
NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu)
|
rs553790960
|
0.00001
|
|
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)
|
rs1060501312
|
0.00001
|
|
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
|
rs763753721
|
0.00001
|
|
NM_000478.6(ALPL):c.1082A>G (p.Gln361Arg)
|
rs1296355520
|
0.00001
|
|
NM_000478.6(ALPL):c.962G>A (p.Arg321Gln)
|
rs138679161
|
0.00001
|
|
NM_000484.4(APP):c.724G>A (p.Ala242Thr)
|
rs985373593
|
0.00001
|
|
NM_000489.6(ATRX):c.17T>C (p.Met6Thr)
|
rs781837406
|
0.00001
|
|
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
|
rs368828845
|
0.00001
|
|
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
|
rs782554626
|
0.00001
|
|
NM_000489.6(ATRX):c.4317+8T>C
|
rs2069418640
|
0.00001
|
|
NM_000489.6(ATRX):c.773A>G (p.Asp258Gly)
|
rs2148638244
|
0.00001
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
0.00001
|
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
|
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro)
|
rs770359007
|
0.00001
|
|
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)
|
rs565971160
|
0.00001
|
|
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)
|
rs764434414
|
0.00001
|
|
NM_000493.4(COL10A1):c.1472C>T (p.Pro491Leu)
|
rs1304322239
|
0.00001
|
|
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg)
|
rs782630866
|
0.00001
|
|
NM_000501.4(ELN):c.1523G>A (p.Gly508Asp)
|
rs782398725
|
0.00001
|
|
NM_000505.4(F12):c.842A>G (p.Asn281Ser)
|
rs1222823597
|
0.00001
|
|
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
|
rs199663650
|
0.00001
|
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
|
NM_000515.5(GH1):c.308G>A (p.Arg103His)
|
rs757500095
|
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_000521.4(HEXB):c.771+985G>A
|
rs1210377071
|
0.00001
|
|
NM_000522.5(HOXA13):c.133G>A (p.Ala45Thr)
|
rs1289314405
|
0.00001
|
|
NM_000523.4(HOXD13):c.922C>T (p.Arg308Cys)
|
rs1205745904
|
0.00001
|
|
NM_000525.4(KCNJ11):c.259G>A (p.Ala87Thr)
|
rs764444072
|
0.00001
|
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
|
NM_000525.4(KCNJ11):c.650T>C (p.Met217Thr)
|
rs774156815
|
0.00001
|
|
NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)
|
rs747297176
|
0.00001
|
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
|
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)
|
rs756096405
|
0.00001
|
|
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
|
rs769652905
|
0.00001
|
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
|
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr)
|
rs757271636
|
0.00001
|
|
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His)
|
rs193922834
|
0.00001
|
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
|
NM_000540.3(RYR1):c.10360G>A (p.Glu3454Lys)
|
rs1446961656
|
0.00001
|
|
NM_000540.3(RYR1):c.10383G>C (p.Gln3461His)
|
rs1159315581
|
0.00001
|
|
NM_000540.3(RYR1):c.10434G>A (p.Met3478Ile)
|
rs764641752
|
0.00001
|
|
NM_000540.3(RYR1):c.10440+3C>T
|
rs564297039
|
0.00001
|
|
NM_000540.3(RYR1):c.10451T>C (p.Ile3484Thr)
|
rs757272442
|
0.00001
|
|
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser)
|
rs371645169
|
0.00001
|
|
NM_000540.3(RYR1):c.10649G>A (p.Arg3550Gln)
|
rs548673909
|
0.00001
|
|
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg)
|
rs771320029
|
0.00001
|
|
NM_000540.3(RYR1):c.10694G>T (p.Gly3565Val)
|
rs761545088
|
0.00001
|
|
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys)
|
rs746611627
|
0.00001
|
|
NM_000540.3(RYR1):c.11000A>G (p.His3667Arg)
|
rs1449554304
|
0.00001
|
|
NM_000540.3(RYR1):c.11183T>C (p.Ile3728Thr)
|
rs757580935
|
0.00001
|
|
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr)
|
rs777478644
|
0.00001
|
|
NM_000540.3(RYR1):c.11878G>C (p.Val3960Leu)
|
rs1064796578
|
0.00001
|
|
NM_000540.3(RYR1):c.11932A>G (p.Ser3978Gly)
|
rs773430054
|
0.00001
|
|
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp)
|
rs144685735
|
0.00001
|
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00001
|
|
NM_000540.3(RYR1):c.1247G>A (p.Ser416Asn)
|
rs1967148373
|
0.00001
|
|
NM_000540.3(RYR1):c.124G>A (p.Gly42Ser)
|
rs759417601
|
0.00001
|
|
NM_000540.3(RYR1):c.12554C>T (p.Ala4185Val)
|
rs764029140
|
0.00001
|
|
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg)
|
rs757438220
|
0.00001
|
|
NM_000540.3(RYR1):c.12742G>A (p.Ala4248Thr)
|
rs1973327407
|
0.00001
|
|
NM_000540.3(RYR1):c.12835G>A (p.Ala4279Thr)
|
rs766705028
|
0.00001
|
|
NM_000540.3(RYR1):c.12983C>G (p.Ala4328Gly)
|
rs1346484503
|
0.00001
|
|
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser)
|
rs1568583100
|
0.00001
|
|
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr)
|
rs1337566743
|
0.00001
|
|
NM_000540.3(RYR1):c.13177G>A (p.Gly4393Ser)
|
rs1444800471
|
0.00001
|
|
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr)
|
rs759639541
|
0.00001
|
|
NM_000540.3(RYR1):c.13237G>A (p.Gly4413Arg)
|
rs898728509
|
0.00001
|
|
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg)
|
rs1394722307
|
0.00001
|
|
NM_000540.3(RYR1):c.13435G>C (p.Gly4479Arg)
|
rs1461963903
|
0.00001
|
|
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu)
|
rs138929547
|
0.00001
|
|
NM_000540.3(RYR1):c.13519G>A (p.Glu4507Lys)
|
rs978180266
|
0.00001
|
|
NM_000540.3(RYR1):c.13589C>T (p.Pro4530Leu)
|
rs754384042
|
0.00001
|
|
NM_000540.3(RYR1):c.13639G>A (p.Val4547Met)
|
rs907229842
|
0.00001
|
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
|
NM_000540.3(RYR1):c.13829C>G (p.Ser4610Cys)
|
rs1308486562
|
0.00001
|
|
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn)
|
rs547709829
|
0.00001
|
|
NM_000540.3(RYR1):c.14021G>A (p.Arg4674Gln)
|
rs1328709837
|
0.00001
|
|
NM_000540.3(RYR1):c.14129C>T (p.Pro4710Leu)
|
rs370212445
|
0.00001
|
|
NM_000540.3(RYR1):c.1423A>T (p.Ser475Cys)
|
rs771464102
|
0.00001
|
|
NM_000540.3(RYR1):c.14264A>G (p.Asn4755Ser)
|
rs1403351558
|
0.00001
|
|
NM_000540.3(RYR1):c.14307C>T (p.Leu4769=)
|
rs1177353484
|
0.00001
|
|
NM_000540.3(RYR1):c.14363A>G (p.Asn4788Ser)
|
rs200002533
|
0.00001
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
0.00001
|
|
NM_000540.3(RYR1):c.1474C>G (p.Arg492Gly)
|
rs199826952
|
0.00001
|
|
NM_000540.3(RYR1):c.14779G>A (p.Val4927Ile)
|
rs193922892
|
0.00001
|
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
|
NM_000540.3(RYR1):c.14942T>C (p.Leu4981Pro)
|
rs761963097
|
0.00001
|
|
NM_000540.3(RYR1):c.15014C>T (p.Thr5005Met)
|
rs763710371
|
0.00001
|
|
NM_000540.3(RYR1):c.15035G>A (p.Trp5012Ter)
|
rs1258521835
|
0.00001
|
|
NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys)
|
rs374070555
|
0.00001
|
|
NM_000540.3(RYR1):c.1531G>T (p.Ala511Ser)
|
rs762833326
|
0.00001
|
|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
0.00001
|
|
NM_000540.3(RYR1):c.1669T>A (p.Ser557Thr)
|
rs1419853770
|
0.00001
|
|
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala)
|
rs779551357
|
0.00001
|
|
NM_000540.3(RYR1):c.1834G>A (p.Ala612Thr)
|
rs118204423
|
0.00001
|
|
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys)
|
rs757284447
|
0.00001
|
|
NM_000540.3(RYR1):c.1943T>C (p.Phe648Ser)
|
rs1251940779
|
0.00001
|
|
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser)
|
rs866990461
|
0.00001
|
|
NM_000540.3(RYR1):c.2179C>T (p.Arg727Cys)
|
rs781271902
|
0.00001
|
|
NM_000540.3(RYR1):c.2195C>T (p.Pro732Leu)
|
rs141444525
|
0.00001
|
|
NM_000540.3(RYR1):c.2278G>A (p.Gly760Ser)
|
rs778783052
|
0.00001
|
|
NM_000540.3(RYR1):c.2361-4C>G
|
rs753918895
|
0.00001
|
|
NM_000540.3(RYR1):c.2362G>T (p.Val788Leu)
|
rs1967661422
|
0.00001
|
|
NM_000540.3(RYR1):c.2371C>A (p.Leu791Ile)
|
rs1001953442
|
0.00001
|
|
NM_000540.3(RYR1):c.2399A>G (p.Lys800Arg)
|
rs745571195
|
0.00001
|
|
NM_000540.3(RYR1):c.2621C>T (p.Ala874Val)
|
rs779130363
|
0.00001
|
|
NM_000540.3(RYR1):c.2629A>G (p.Ile877Val)
|
rs1450654907
|
0.00001
|
|
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp)
|
rs371050482
|
0.00001
|
|
NM_000540.3(RYR1):c.2774G>A (p.Gly925Glu)
|
rs2514077857
|
0.00001
|
|
NM_000540.3(RYR1):c.2861T>C (p.Leu954Pro)
|
rs1183111020
|
0.00001
|
|
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)
|
rs143179371
|
0.00001
|
|
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln)
|
rs778241277
|
0.00001
|
|
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)
|
rs780145264
|
0.00001
|
|
NM_000540.3(RYR1):c.3041C>T (p.Ala1014Val)
|
rs528184462
|
0.00001
|
|
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala)
|
rs143331857
|
0.00001
|
|
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln)
|
rs781550981
|
0.00001
|
|
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser)
|
rs558190898
|
0.00001
|
|
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)
|
rs377381782
|
0.00001
|
|
NM_000540.3(RYR1):c.3298C>T (p.Arg1100Cys)
|
rs750429900
|
0.00001
|
|
NM_000540.3(RYR1):c.3304G>A (p.Gly1102Ser)
|
rs1968185077
|
0.00001
|
|
NM_000540.3(RYR1):c.3334G>A (p.Val1112Ile)
|
rs894103148
|
0.00001
|
|
NM_000540.3(RYR1):c.3396C>G (p.His1132Gln)
|
rs572636254
|
0.00001
|
|
NM_000540.3(RYR1):c.3686T>C (p.Met1229Thr)
|
rs750057461
|
0.00001
|
|
NM_000540.3(RYR1):c.3829G>A (p.Gly1277Ser)
|
rs755011605
|
0.00001
|
|
NM_000540.3(RYR1):c.392C>T (p.Ala131Val)
|
rs1039245556
|
0.00001
|
|
NM_000540.3(RYR1):c.3968G>C (p.Arg1323Pro)
|
rs771230451
|
0.00001
|
|
NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser)
|
rs755911690
|
0.00001
|
|
NM_000540.3(RYR1):c.400G>A (p.Val134Met)
|
rs746872391
|
0.00001
|
|
NM_000540.3(RYR1):c.4273A>G (p.Ile1425Val)
|
rs762596904
|
0.00001
|
|
NM_000540.3(RYR1):c.4276A>G (p.Ile1426Val)
|
rs1968671799
|
0.00001
|
|
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)
|
rs747718728
|
0.00001
|
|
NM_000540.3(RYR1):c.4466G>A (p.Ser1489Asn)
|
rs34404839
|
0.00001
|
|
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp)
|
rs1229854214
|
0.00001
|
|
NM_000540.3(RYR1):c.4791G>C (p.Gln1597His)
|
rs953128614
|
0.00001
|
|
NM_000540.3(RYR1):c.4864C>T (p.Arg1622Trp)
|
rs756481315
|
0.00001
|
|
NM_000540.3(RYR1):c.4895C>T (p.Pro1632Leu)
|
rs773015838
|
0.00001
|
|
NM_000540.3(RYR1):c.4908G>A (p.Met1636Ile)
|
rs1969121445
|
0.00001
|
|
NM_000540.3(RYR1):c.4933C>T (p.Arg1645Trp)
|
rs1470156027
|
0.00001
|
|
NM_000540.3(RYR1):c.4979G>A (p.Arg1660His)
|
rs200625526
|
0.00001
|
|
NM_000540.3(RYR1):c.5002C>T (p.Leu1668Phe)
|
rs1243399912
|
0.00001
|
|
NM_000540.3(RYR1):c.502A>G (p.Ile168Val)
|
rs201432446
|
0.00001
|
|
NM_000540.3(RYR1):c.5107C>T (p.Pro1703Ser)
|
rs1334710181
|
0.00001
|
|
NM_000540.3(RYR1):c.5155C>A (p.Leu1719Ile)
|
rs771648635
|
0.00001
|
|
NM_000540.3(RYR1):c.5171G>A (p.Arg1724His)
|
rs372800648
|
0.00001
|
|
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)
|
rs761616815
|
0.00001
|
|
NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp)
|
rs759566652
|
0.00001
|
|
NM_000540.3(RYR1):c.5303C>T (p.Thr1768Ile)
|
rs1969268506
|
0.00001
|
|
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)
|
rs1568484835
|
0.00001
|
|
NM_000540.3(RYR1):c.5458C>T (p.Arg1820Cys)
|
rs767062679
|
0.00001
|
|
NM_000540.3(RYR1):c.5548-3T>C
|
rs370111319
|
0.00001
|
|
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)
|
rs1043076830
|
0.00001
|
|
NM_000540.3(RYR1):c.5643G>C (p.Glu1881Asp)
|
rs770776594
|
0.00001
|
|
NM_000540.3(RYR1):c.5699C>T (p.Ala1900Val)
|
rs574332618
|
0.00001
|
|
NM_000540.3(RYR1):c.5815-16G>A
|
rs1064796679
|
0.00001
|
|
NM_000540.3(RYR1):c.5849A>T (p.Glu1950Val)
|
rs765521639
|
0.00001
|
|
NM_000540.3(RYR1):c.5860C>T (p.Arg1954Cys)
|
rs1354061498
|
0.00001
|
|
NM_000540.3(RYR1):c.5926C>T (p.Arg1976Cys)
|
rs747644094
|
0.00001
|
|
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=)
|
rs1969490927
|
0.00001
|
|
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)
|
rs750324313
|
0.00001
|
|
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=)
|
rs2145564113
|
0.00001
|
|
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His)
|
rs763963516
|
0.00001
|
|
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His)
|
rs745319881
|
0.00001
|
|
NM_000540.3(RYR1):c.6331G>A (p.Val2111Met)
|
rs773607432
|
0.00001
|
|
NM_000540.3(RYR1):c.6422C>T (p.Ala2141Val)
|
rs201293931
|
0.00001
|
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
0.00001
|
|
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)
|
rs776830747
|
0.00001
|
|
NM_000540.3(RYR1):c.6515C>T (p.Pro2172Leu)
|
rs376564417
|
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.6742C>T (p.Arg2248Cys)
|
rs763352221
|
0.00001
|
|
NM_000540.3(RYR1):c.6781A>G (p.Ser2261Gly)
|
rs1198125173
|
0.00001
|
|
NM_000540.3(RYR1):c.6988C>T (p.Arg2330Cys)
|
rs768804367
|
0.00001
|
|
NM_000540.3(RYR1):c.6989G>A (p.Arg2330His)
|
rs774118116
|
0.00001
|
|
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)
|
rs193922801
|
0.00001
|
|
NM_000540.3(RYR1):c.7172C>T (p.Ala2391Val)
|
rs373264653
|
0.00001
|
|
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys)
|
rs751654689
|
0.00001
|
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
|
NM_000540.3(RYR1):c.7201C>G (p.Arg2401Gly)
|
rs1481790842
|
0.00001
|
|
NM_000540.3(RYR1):c.7363G>A (p.Ala2455Thr)
|
rs765019465
|
0.00001
|
|
NM_000540.3(RYR1):c.7393G>A (p.Asp2465Asn)
|
rs756955433
|
0.00001
|
|
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu)
|
rs776163386
|
0.00001
|
|
NM_000540.3(RYR1):c.7712G>C (p.Gly2571Ala)
|
rs777293791
|
0.00001
|
|
NM_000540.3(RYR1):c.7750C>T (p.His2584Tyr)
|
rs1330350845
|
0.00001
|
|
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile)
|
rs193922824
|
0.00001
|
|
NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu)
|
rs780836747
|
0.00001
|
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
|
NM_000540.3(RYR1):c.8092A>G (p.Met2698Val)
|
rs775479195
|
0.00001
|
|
NM_000540.3(RYR1):c.82C>T (p.Leu28Phe)
|
rs1242495143
|
0.00001
|
|
NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys)
|
rs761023180
|
0.00001
|
|
NM_000540.3(RYR1):c.8410A>T (p.Ile2804Phe)
|
rs779475638
|
0.00001
|
|
NM_000540.3(RYR1):c.8430G>A (p.Lys2810=)
|
rs747388850
|
0.00001
|
|
NM_000540.3(RYR1):c.8508G>T (p.Lys2836Asn)
|
rs747337345
|
0.00001
|
|
NM_000540.3(RYR1):c.8654C>T (p.Thr2885Met)
|
rs1159304367
|
0.00001
|
|
NM_000540.3(RYR1):c.8716G>A (p.Val2906Ile)
|
rs775660642
|
0.00001
|
|
NM_000540.3(RYR1):c.8861G>T (p.Arg2954Leu)
|
rs1970541664
|
0.00001
|
|
NM_000540.3(RYR1):c.8954G>A (p.Arg2985Gln)
|
rs769814020
|
0.00001
|
|
NM_000540.3(RYR1):c.9062C>T (p.Pro3021Leu)
|
rs770765832
|
0.00001
|
|
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His)
|
rs1414706865
|
0.00001
|
|
NM_000540.3(RYR1):c.9283T>C (p.Phe3095Leu)
|
rs1440501918
|
0.00001
|
|
NM_000540.3(RYR1):c.9341A>G (p.Lys3114Arg)
|
rs752290068
|
0.00001
|
|
NM_000540.3(RYR1):c.9392A>G (p.Tyr3131Cys)
|
rs776504924
|
0.00001
|
|
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg)
|
rs370851939
|
0.00001
|
|
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp)
|
rs1376794459
|
0.00001
|
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
|
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu)
|
rs1223136232
|
0.00001
|
|
NM_000540.3(RYR1):c.9733G>A (p.Val3245Met)
|
rs751455783
|
0.00001
|
|
NM_000540.3(RYR1):c.975C>T (p.Ala325=)
|
rs751251863
|
0.00001
|
|
NM_000540.3(RYR1):c.9826A>G (p.Met3276Val)
|
rs1568528315
|
0.00001
|
|
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)
|
rs755875230
|
0.00001
|
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
|
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)
|
rs587780072
|
0.00001
|
|
NM_000548.5(TSC2):c.1347G>A (p.Met449Ile)
|
rs45443091
|
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.4568A>G (p.Glu1523Gly)
|
rs777406873
|
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_000553.6(WRN):c.2944C>T (p.Pro982Ser)
|
rs756832663
|
0.00001
|
|
NM_000553.6(WRN):c.394G>A (p.Ala132Thr)
|
rs951969651
|
0.00001
|
|
NM_000581.4(GPX1):c.362G>C (p.Gly121Ala)
|
rs761821693
|
0.00001
|
|
NM_000581.4(GPX1):c.439C>T (p.Pro147Ser)
|
rs2047862868
|
0.00001
|
|
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)
|
rs148664639
|
0.00001
|
|
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)
|
rs1327650371
|
0.00001
|
|
NM_000637.5(GSR):c.1358C>T (p.Ala453Val)
|
rs769484105
|
0.00001
|
|
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)
|
rs371380535
|
0.00001
|
|
NM_000637.5(GSR):c.372T>C (p.His124=)
|
rs1348977169
|
0.00001
|
|
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
|
rs762046235
|
0.00001
|
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
rs1402386421
|
0.00001
|
|
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser)
|
rs145720433
|
0.00001
|
|
NM_000686.5(AGTR2):c.403dup (p.Ile135fs)
|
rs1556673735
|
0.00001
|
|
NM_000686.5(AGTR2):c.711C>G (p.His237Gln)
|
rs782268575
|
0.00001
|
|
NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)
|
rs768541648
|
0.00001
|
|
NM_000702.4(ATP1A2):c.1250C>T (p.Thr417Met)
|
rs138696612
|
0.00001
|
|
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu)
|
rs145701604
|
0.00001
|
|
NM_000702.4(ATP1A2):c.361G>A (p.Asp121Asn)
|
rs746642812
|
0.00001
|
|
NM_000718.4(CACNA1B):c.2020G>A (p.Glu674Lys)
|
rs747544100
|
0.00001
|
|
NM_000719.7(CACNA1C):c.-2C>T
|
rs536361695
|
0.00001
|
|
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)
|
rs1057518456
|
0.00001
|
|
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)
|
rs1455199573
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)
|
rs761054762
|
0.00001
|
|
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met)
|
rs766076722
|
0.00001
|
|
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)
|
rs1398352244
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys)
|
rs758534439
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1085C>T (p.Ser362Phe)
|
rs139234245
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser)
|
rs199914663
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp)
|
rs998924085
|
0.00001
|
|
NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=)
|
rs369677810
|
0.00001
|
|
NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly)
|
rs754895386
|
0.00001
|
|
NM_000747.3(CHRNB1):c.1472C>A (p.Thr491Lys)
|
rs750490746
|
0.00001
|
|
NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val)
|
rs75926342
|
0.00001
|
|
NM_000747.3(CHRNB1):c.724C>T (p.Arg242Cys)
|
rs200962487
|
0.00001
|
|
NM_000751.3(CHRND):c.1536G>C (p.Gln512His)
|
rs765012905
|
0.00001
|
|
NM_000751.3(CHRND):c.1544G>A (p.Arg515His)
|
rs570911554
|
0.00001
|
|
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys)
|
rs1231032358
|
0.00001
|
|
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
|
rs746002657
|
0.00001
|
|
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser)
|
rs373187583
|
0.00001
|
|
NM_000755.5(CRAT):c.1738C>T (p.Pro580Ser)
|
rs1447459501
|
0.00001
|
|
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn)
|
rs775114472
|
0.00001
|
|
NM_000787.4(DBH):c.259T>C (p.Phe87Leu)
|
rs761327487
|
0.00001
|
|
NM_000789.4(ACE):c.3635A>C (p.Asn1212Thr)
|
rs574717474
|
0.00001
|
|
NM_000799.4(EPO):c.286C>G (p.Leu96Val)
|
rs761633990
|
0.00001
|
|
NM_000810.4(GABRA5):c.990C>T (p.Phe330=)
|
rs1417092187
|
0.00001
|
|
NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)
|
rs750302215
|
0.00001
|
|
NM_000815.5(GABRD):c.1223G>A (p.Arg408His)
|
rs901937998
|
0.00001
|
|
NM_000815.5(GABRD):c.470G>A (p.Arg157Gln)
|
rs763019253
|
0.00001
|
|
NM_000827.4(GRIA1):c.1264C>A (p.Leu422Ile)
|
rs764535889
|
0.00001
|
|
NM_000829.4(GRIA4):c.1477-3T>C
|
rs760398807
|
0.00001
|
|
NM_000834.5(GRIN2B):c.136G>A (p.Asp46Asn)
|
rs370809599
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2773A>G (p.Ile925Val)
|
rs1948608311
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3099C>G (p.Ser1033Arg)
|
rs796052575
|
0.00001
|
|
NM_000834.5(GRIN2B):c.324C>T (p.Ile108=)
|
rs773282360
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3408G>C (p.Gln1136His)
|
rs746865690
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val)
|
rs763372245
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4112A>G (p.Tyr1371Cys)
|
rs755797497
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4244C>T (p.Ser1415Leu)
|
rs201463390
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)
|
rs745715225
|
0.00001
|
|
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser)
|
rs141530315
|
0.00001
|
|
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala)
|
rs1971333907
|
0.00001
|
|
NM_000860.6(HPGD):c.526G>A (p.Val176Met)
|
rs187367875
|
0.00001
|
|
NM_000875.5(IGF1R):c.1814G>A (p.Arg605His)
|
rs45553041
|
0.00001
|
|
NM_000875.5(IGF1R):c.3932C>T (p.Ser1311Leu)
|
rs771642071
|
0.00001
|
|
NM_000875.5(IGF1R):c.665G>A (p.Arg222Gln)
|
rs199789940
|
0.00001
|
|
NM_000883.4(IMPDH1):c.863G>A (p.Arg288His)
|
rs1027214657
|
0.00001
|
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
|
NM_000900.5(MGP):c.62A>T (p.Glu21Val)
|
rs1403755011
|
0.00001
|
|
NM_000921.5(PDE3A):c.1903G>C (p.Asp635His)
|
rs1177411012
|
0.00001
|
|
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)
|
rs372743787
|
0.00001
|
|
NM_000930.5(PLAT):c.385G>A (p.Glu129Lys)
|
rs887965470
|
0.00001
|
|
NM_000936.4(PNLIP):c.686A>G (p.Asn229Ser)
|
rs533683002
|
0.00001
|
|
NM_000944.5(PPP3CA):c.1081+4T>A
|
rs919155461
|
0.00001
|
|
NM_000944.5(PPP3CA):c.782+3A>G
|
rs958058171
|
0.00001
|
|
NM_000944.5(PPP3CA):c.9G>T (p.Glu3Asp)
|
rs376661307
|
0.00001
|
|
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
|
rs1435009501
|
0.00001
|
|
NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)
|
rs776557761
|
0.00001
|
|
NM_000996.4(RPL35A):c.11+3A>G
|
rs1323618825
|
0.00001
|
|
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly)
|
rs773689278
|
0.00001
|
|
NM_001001344.3(ATP2B3):c.122G>A (p.Arg41Gln)
|
rs1557004035
|
0.00001
|
|
NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)
|
rs769817076
|
0.00001
|
|
NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)
|
rs186325627
|
0.00001
|
|
NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)
|
rs1454542085
|
0.00001
|
|
NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)
|
rs768881975
|
0.00001
|
|
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
|
rs773645018
|
0.00001
|
|
NM_001003694.2(BRPF1):c.2219G>A (p.Arg740His)
|
rs1359599082
|
0.00001
|
|
NM_001003694.2(BRPF1):c.976C>T (p.Arg326Cys)
|
rs1385790156
|
0.00001
|
|
NM_001003800.2(BICD2):c.1249G>A (p.Asp417Asn)
|
rs1853408983
|
0.00001
|
|
NM_001003800.2(BICD2):c.1805C>T (p.Thr602Met)
|
rs369050350
|
0.00001
|
|
NM_001003800.2(BICD2):c.295C>T (p.Arg99Trp)
|
rs751756270
|
0.00001
|
|
NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)
|
rs866185910
|
0.00001
|
|
NM_001005273.3(CHD3):c.5116C>T (p.Arg1706Trp)
|
rs903965338
|
0.00001
|
|
NM_001005361.3(DNM2):c.1004A>T (p.Gln335Leu)
|
rs759996048
|
0.00001
|
|
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
|
rs1202955393
|
0.00001
|
|
NM_001005361.3(DNM2):c.1196+747A>G
|
rs1280243348
|
0.00001
|
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
|
NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)
|
rs368598401
|
0.00001
|
|
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
|
rs760694871
|
0.00001
|
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
rs749994173
|
0.00001
|
|
NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly)
|
rs1435133623
|
0.00001
|
|
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488
|
0.00001
|
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
rs757876109
|
0.00001
|
|
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe)
|
rs375820696
|
0.00001
|
|
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser)
|
rs758644162
|
0.00001
|
|
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp)
|
rs2073292486
|
0.00001
|
|
NM_001005361.3(DNM2):c.634G>A (p.Glu212Lys)
|
rs759683244
|
0.00001
|
|
NM_001005361.3(DNM2):c.699C>T (p.Gly233=)
|
rs751844947
|
0.00001
|
|
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys)
|
rs370636702
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
|
NM_001005388.3(NFASC):c.2452G>A (p.Gly818Ser)
|
rs1457220793
|
0.00001
|
|
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser)
|
rs971237623
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp)
|
rs752027152
|
0.00001
|
|
NM_001009944.3(PKD1):c.4103C>T (p.Ala1368Val)
|
rs562184754
|
0.00001
|
|
NM_001009944.3(PKD1):c.4661A>G (p.Asn1554Ser)
|
rs751868419
|
0.00001
|
|
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)
|
rs1456510041
|
0.00001
|
|
NM_001009999.3(KDM1A):c.1930G>A (p.Ala644Thr)
|
rs1244958458
|
0.00001
|
|
NM_001010867.4(IBA57):c.121G>A (p.Asp41Asn)
|
rs1166276688
|
0.00001
|
|
NM_001010867.4(IBA57):c.754G>A (p.Gly252Ser)
|
rs1571918954
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln)
|
rs751741926
|
0.00001
|
|
NM_001011.4(RPS7):c.157G>A (p.Val53Ile)
|
rs144178741
|
0.00001
|
|
NM_001012614.2(CTBP1):c.517C>T (p.Arg173Cys)
|
rs765846448
|
0.00001
|
|
NM_001013703.4(EIF2AK4):c.983A>C (p.Gln328Pro)
|
rs752094480
|
0.00001
|
|
NM_001014447.3(CPZ):c.906+1G>A
|
rs1187427564
|
0.00001
|
|
NM_001017974.2(P4HA2):c.782C>A (p.Thr261Lys)
|
rs146303839
|
0.00001
|
|
NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr)
|
rs1464563401
|
0.00001
|
|
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
|
rs753812355
|
0.00001
|
|
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
|
rs764091042
|
0.00001
|
|
NM_001022.4(RPS19):c.1-9C>T
|
rs376460080
|
0.00001
|
|
NM_001022.4(RPS19):c.259G>A (p.Val87Ile)
|
rs782752734
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met)
|
rs1043442244
|
0.00001
|
|
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
|
rs2540722814
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)
|
rs1046891783
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)
|
rs751520067
|
0.00001
|
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00001
|
|
NM_001034116.2(EIF2B4):c.1411G>T (p.Val471Phe)
|
rs757943510
|
0.00001
|
|
NM_001035.3(RYR2):c.13329-10G>C
|
rs754319442
|
0.00001
|
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
|
NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)
|
rs376638283
|
0.00001
|
|
NM_001035.3(RYR2):c.6235G>A (p.Glu2079Lys)
|
rs769596818
|
0.00001
|
|
NM_001036.6(RYR3):c.12785C>A (p.Thr4262Asn)
|
rs765319074
|
0.00001
|
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
|
NM_001037132.4(NRCAM):c.638G>A (p.Arg213His)
|
rs764475322
|
0.00001
|
|
NM_001037333.3(CYFIP2):c.2354G>A (p.Arg785His)
|
rs1435701430
|
0.00001
|
|
NM_001037333.3(CYFIP2):c.8C>T (p.Thr3Met)
|
rs1241752177
|
0.00001
|
|
NM_001039.4(SCNN1G):c.1808C>G (p.Pro603Arg)
|
rs1349054540
|
0.00001
|
|
NM_001039348.3(EFEMP1):c.1339G>T (p.Ala447Ser)
|
rs746366927
|
0.00001
|
|
NM_001039591.3(USP9X):c.17G>A (p.Arg6His)
|
rs1419353367
|
0.00001
|
|
NM_001039591.3(USP9X):c.3803A>G (p.Tyr1268Cys)
|
rs1356831786
|
0.00001
|
|
NM_001039591.3(USP9X):c.90G>C (p.Gln30His)
|
rs754357906
|
0.00001
|
|
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)
|
rs751251082
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1900G>T (p.Val634Leu)
|
rs752534435
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val)
|
rs1017711579
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn)
|
rs759697991
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val)
|
rs772819993
|
0.00001
|
|
NM_001040142.2(SCN2A):c.697+3G>A
|
rs754960917
|
0.00001
|
|
NM_001040616.3(LINS1):c.332A>C (p.His111Pro)
|
rs747241674
|
0.00001
|
|
NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg)
|
rs375661124
|
0.00001
|
|
NM_001042475.3(CEP85L):c.34G>C (p.Gly12Arg)
|
rs1050048493
|
0.00001
|
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
|
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
|
rs963183930
|
0.00001
|
|
NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)
|
rs779119345
|
0.00001
|
|
NM_001042603.3(KDM5A):c.791G>A (p.Arg264Gln)
|
rs2137456534
|
0.00001
|
|
NM_001042681.2(RERE):c.143A>G (p.Lys48Arg)
|
rs758950586
|
0.00001
|
|
NM_001042681.2(RERE):c.1735G>A (p.Gly579Ser)
|
rs771592760
|
0.00001
|
|
NM_001042681.2(RERE):c.224A>G (p.Asn75Ser)
|
rs747423555
|
0.00001
|
|
NM_001042681.2(RERE):c.238C>T (p.Pro80Ser)
|
rs1341348689
|
0.00001
|
|
NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro)
|
rs769674978
|
0.00001
|
|
NM_001042681.2(RERE):c.3531A>C (p.Lys1177Asn)
|
rs1181984077
|
0.00001
|
|
NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)
|
rs868002362
|
0.00001
|
|
NM_001042681.2(RERE):c.938A>G (p.His313Arg)
|
rs1161271998
|
0.00001
|
|
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met)
|
rs746715018
|
0.00001
|
|
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
|
rs761660963
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)
|
rs587778539
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)
|
rs876659488
|
0.00001
|
|
NM_001070.5(TUBG1):c.1157C>T (p.Ser386Leu)
|
rs2510736284
|
0.00001
|
|
NM_001070.5(TUBG1):c.459C>T (p.Leu153=)
|
rs750864269
|
0.00001
|
|
NM_001070.5(TUBG1):c.607-7C>T
|
rs200565766
|
0.00001
|
|
NM_001072.4(UGT1A6):c.263A>G (p.Lys88Arg)
|
rs759897162
|
0.00001
|
|
NM_001072.4(UGT1A6):c.61T>C (p.Trp21Arg)
|
rs1209922718
|
0.00001
|
|
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met)
|
rs776199294
|
0.00001
|
|
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys)
|
rs748087053
|
0.00001
|
|
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe)
|
rs890463115
|
0.00001
|
|
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)
|
rs1386572159
|
0.00001
|
|
NM_001077365.2(POMT1):c.1441C>T (p.His481Tyr)
|
rs1334646753
|
0.00001
|
|
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu)
|
rs1018748368
|
0.00001
|
|
NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)
|
rs746249614
|
0.00001
|
|
NM_001077365.2(POMT1):c.1835T>A (p.Leu612Gln)
|
rs776127884
|
0.00001
|
|
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu)
|
rs138433752
|
0.00001
|
|
NM_001077365.2(POMT1):c.47A>G (p.Asn16Ser)
|
rs934691977
|
0.00001
|
|
NM_001077365.2(POMT1):c.499G>A (p.Val167Met)
|
rs757875244
|
0.00001
|
|
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile)
|
rs1344992449
|
0.00001
|
|
NM_001077365.2(POMT1):c.653C>G (p.Ala218Gly)
|
rs1946734812
|
0.00001
|
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
|
NM_001077365.2(POMT1):c.699+19T>C
|
rs763483567
|
0.00001
|
|
NM_001077365.2(POMT1):c.699+32C>T
|
rs201225383
|
0.00001
|
|
NM_001077365.2(POMT1):c.728G>A (p.Arg243Gln)
|
rs772980661
|
0.00001
|
|
NM_001077365.2(POMT1):c.733G>A (p.Val245Met)
|
rs1428704269
|
0.00001
|
|
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
|
rs118032649
|
0.00001
|
|
NM_001077415.3(CRELD1):c.874T>C (p.Cys292Arg)
|
rs2085415399
|
0.00001
|
|
NM_001077418.3(TMEM231):c.878A>C (p.Gln293Pro)
|
rs1278027327
|
0.00001
|
|
NM_001077525.3(MTMR14):c.1376G>A (p.Ser459Asn)
|
rs375373181
|
0.00001
|
|
NM_001077525.3(MTMR14):c.1882G>C (p.Ala628Pro)
|
rs755913682
|
0.00001
|
|
NM_001077525.3(MTMR14):c.250C>T (p.His84Tyr)
|
rs1162011740
|
0.00001
|
|
NM_001077525.3(MTMR14):c.308+1G>A
|
rs1413765461
|
0.00001
|
|
NM_001077525.3(MTMR14):c.743C>G (p.Pro248Arg)
|
rs773778933
|
0.00001
|
|
NM_001077653.2(TBX20):c.1124T>C (p.Ile375Thr)
|
rs752916726
|
0.00001
|
|
NM_001079.4(ZAP70):c.1228C>G (p.Leu410Val)
|
rs201100932
|
0.00001
|
|
NM_001079.4(ZAP70):c.192G>C (p.Gln64His)
|
rs770705407
|
0.00001
|
|
NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)
|
rs757900916
|
0.00001
|
|
NM_001079802.2(FKTN):c.1131G>T (p.Met377Ile)
|
rs1831563242
|
0.00001
|
|
NM_001079802.2(FKTN):c.1169T>G (p.Phe390Cys)
|
rs747280605
|
0.00001
|
|
NM_001079802.2(FKTN):c.116G>C (p.Gly39Ala)
|
rs1051378547
|
0.00001
|
|
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)
|
rs775366895
|
0.00001
|
|
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr)
|
rs886044478
|
0.00001
|
|
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)
|
rs371697266
|
0.00001
|
|
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp)
|
rs767026996
|
0.00001
|
|
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)
|
rs773305645
|
0.00001
|
|
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)
|
rs200686690
|
0.00001
|
|
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)
|
rs1187674499
|
0.00001
|
|
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile)
|
rs772111890
|
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_001079802.2(FKTN):c.92A>G (p.Tyr31Cys)
|
rs533603648
|
0.00001
|
|
NM_001079866.2(BCS1L):c.1025T>C (p.Ile342Thr)
|
rs1261867346
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.101C>T (p.Ala34Val)
|
rs2127378873
|
0.00001
|
|
NM_001080414.4(CCDC88C):c.4414G>A (p.Asp1472Asn)
|
rs758183068
|
0.00001
|
|
NM_001080414.4(CCDC88C):c.5492C>T (p.Ala1831Val)
|
rs1250720349
|
0.00001
|
|
NM_001080432.3(FTO):c.1A>G (p.Met1Val)
|
rs534074284
|
0.00001
|
|
NM_001080432.3(FTO):c.239G>A (p.Arg80Gln)
|
rs143695616
|
0.00001
|
|
NM_001080449.3(DNA2):c.593G>A (p.Arg198His)
|
rs1272393477
|
0.00001
|
|
NM_001080467.3(MYO5B):c.1499T>C (p.Ile500Thr)
|
rs1399711940
|
0.00001
|
|
NM_001080517.3(SETD5):c.1340A>G (p.Lys447Arg)
|
rs200137965
|
0.00001
|
|
NM_001080517.3(SETD5):c.1976C>G (p.Pro659Arg)
|
rs773497618
|
0.00001
|
|
NM_001080517.3(SETD5):c.2228T>C (p.Ile743Thr)
|
rs2042267954
|
0.00001
|
|
NM_001080517.3(SETD5):c.2321A>G (p.Asp774Gly)
|
rs1301522020
|
0.00001
|
|
NM_001080517.3(SETD5):c.2878A>G (p.Ser960Gly)
|
rs2045194222
|
0.00001
|
|
NM_001080517.3(SETD5):c.3326A>G (p.Asp1109Gly)
|
rs2045536119
|
0.00001
|
|
NM_001080779.2(MYO1C):c.2410G>A (p.Glu804Lys)
|
rs751037147
|
0.00001
|
|
NM_001081.4(CUBN):c.4299C>T (p.Ile1433=)
|
rs541335017
|
0.00001
|
|
NM_001081.4(CUBN):c.5062G>A (p.Glu1688Lys)
|
rs1186457952
|
0.00001
|
|
NM_001081.4(CUBN):c.6443A>G (p.Asn2148Ser)
|
rs1387497437
|
0.00001
|
|
NM_001081.4(CUBN):c.6497T>C (p.Leu2166Ser)
|
rs977608598
|
0.00001
|
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
|
NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)
|
rs759739802
|
0.00001
|
|
NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)
|
rs993562370
|
0.00001
|
|
NM_001085411.3(NADK2):c.686C>G (p.Thr229Ser)
|
rs1487581893
|
0.00001
|
|
NM_001089.3(ABCA3):c.2032G>A (p.Ala678Thr)
|
rs769584477
|
0.00001
|
|
NM_001089.3(ABCA3):c.419A>G (p.Asn140Ser)
|
rs1055065367
|
0.00001
|
|
NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)
|
rs565444731
|
0.00001
|
|
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter)
|
rs2066512609
|
0.00001
|
|
NM_001098511.3(KIF2A):c.2000G>A (p.Arg667Lys)
|
rs1320818197
|
0.00001
|
|
NM_001098816.3(TENM4):c.553C>T (p.His185Tyr)
|
rs371659604
|
0.00001
|
|
NM_001099274.3(TINF2):c.186G>A (p.Lys62=)
|
rs750655470
|
0.00001
|
|
NM_001099402.2(CCNK):c.736G>A (p.Val246Ile)
|
rs750789680
|
0.00001
|
|
NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro)
|
rs781652731
|
0.00001
|
|
NM_001100.4(ACTA1):c.223C>A (p.His75Asn)
|
rs267606627
|
0.00001
|
|
NM_001100.4(ACTA1):c.454+3G>T
|
rs200976037
|
0.00001
|
|
NM_001100913.3(PACS2):c.1541G>A (p.Arg514Lys)
|
rs1555412412
|
0.00001
|
|
NM_001100913.3(PACS2):c.1873C>T (p.Leu625=)
|
rs782036206
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter)
|
rs886051333
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)
|
rs766773918
|
0.00001
|
|
NM_001101421.4(MYO1H):c.1036-1G>T
|
rs745617617
|
0.00001
|
|
NM_001101426.4(CRPPA):c.1161A>T (p.Lys387Asn)
|
rs368477537
|
0.00001
|
|
NM_001101426.4(CRPPA):c.129C>G (p.His43Gln)
|
rs569192782
|
0.00001
|
|
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr)
|
rs886042489
|
0.00001
|
|
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys)
|
rs764542382
|
0.00001
|
|
NM_001101426.4(CRPPA):c.395A>G (p.Asn132Ser)
|
rs774324906
|
0.00001
|
|
NM_001101426.4(CRPPA):c.451G>A (p.Val151Ile)
|
rs1187535773
|
0.00001
|
|
NM_001101426.4(CRPPA):c.556C>G (p.Leu186Val)
|
rs1331158760
|
0.00001
|
|
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile)
|
rs757165158
|
0.00001
|
|
NM_001101426.4(CRPPA):c.605C>T (p.Ser202Leu)
|
rs758264134
|
0.00001
|
|
NM_001101426.4(CRPPA):c.800A>T (p.Lys267Ile)
|
rs1472436450
|
0.00001
|
|
NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)
|
rs1748018223
|
0.00001
|
|
NM_001106.4(ACVR2B):c.775G>C (p.Val259Leu)
|
rs540729310
|
0.00001
|
|
NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly)
|
rs782331362
|
0.00001
|
|
NM_001110556.2(FLNA):c.2588G>A (p.Arg863Gln)
|
rs2067718143
|
0.00001
|
|
NM_001110556.2(FLNA):c.6436C>T (p.Arg2146Cys)
|
rs200832880
|
0.00001
|
|
NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)
|
rs782299541
|
0.00001
|
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00001
|
|
NM_001110792.2(MECP2):c.599G>A (p.Arg200Gln)
|
rs1557136833
|
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_001111.5(ADAR):c.1542C>T (p.Phe514=)
|
rs757137562
|
0.00001
|
|
NM_001111067.4(ACVR1):c.1396-2dup
|
rs770235094
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
|
rs1300877733
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile)
|
rs2147004930
|
0.00001
|
|
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)
|
rs1008007599
|
0.00001
|
|
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)
|
rs1371405183
|
0.00001
|
|
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)
|
rs551989402
|
0.00001
|
|
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn)
|
rs1374938976
|
0.00001
|
|
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
|
rs748741988
|
0.00001
|
|
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)
|
rs515726211
|
0.00001
|
|
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)
|
rs368009876
|
0.00001
|
|
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)
|
rs763139927
|
0.00001
|
|
NM_001114748.2(TMEM240):c.35T>C (p.Ile12Thr)
|
rs1223225659
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)
|
rs956525226
|
0.00001
|
|
NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser)
|
rs752160903
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)
|
rs886039754
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)
|
rs1231715433
|
0.00001
|
|
NM_001126121.2(SLC25A19):c.115A>T (p.Ile39Phe)
|
rs765144622
|
0.00001
|
|
NM_001127178.3(PIGG):c.1207A>G (p.Asn403Asp)
|
rs1233234368
|
0.00001
|
|
NM_001127178.3(PIGG):c.1676C>T (p.Ala559Val)
|
rs566192458
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)
|
rs1335209785
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2516G>A (p.Arg839Gln)
|
rs773476849
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3112C>T (p.Pro1038Ser)
|
rs775760514
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)
|
rs748935741
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3613G>A (p.Glu1205Lys)
|
rs779989955
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)
|
rs375903481
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)
|
rs771030765
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg)
|
rs965819293
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)
|
rs1057523197
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6791C>T (p.Ser2264Phe)
|
rs1267795318
|
0.00001
|
|
NM_001127255.2(NLRP7):c.637A>G (p.Lys213Glu)
|
rs764601486
|
0.00001
|
|
NM_001127392.3(MYRF):c.2908G>A (p.Gly970Ser)
|
rs1184381195
|
0.00001
|
|
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)
|
rs1788752548
|
0.00001
|
|
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
|
rs1789303924
|
0.00001
|
|
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)
|
rs771316858
|
0.00001
|
|
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His)
|
rs777320447
|
0.00001
|
|
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)
|
rs199505838
|
0.00001
|
|
NM_001127898.4(CLCN5):c.985A>G (p.Ile329Val)
|
rs1557193822
|
0.00001
|
|
NM_001128.6(AP1G1):c.1096A>G (p.Met366Val)
|
rs770797451
|
0.00001
|
|
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys)
|
rs772166657
|
0.00001
|
|
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
|
rs767777879
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.1256G>A (p.Arg419Gln)
|
rs778266025
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.3369C>A (p.Asn1123Lys)
|
rs753177006
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr)
|
rs146540139
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.3544G>A (p.Ala1182Thr)
|
rs545269430
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.4717C>T (p.Leu1573Phe)
|
rs373600397
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.5725C>T (p.Arg1909Cys)
|
rs762465011
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp)
|
rs373663753
|
0.00001
|
|
NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile)
|
rs940159315
|
0.00001
|
|
NM_001130144.3(LTBP3):c.3908G>A (p.Arg1303His)
|
rs1855916037
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2620G>A (p.Ala874Thr)
|
rs759256279
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)
|
rs943636575
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.296T>C (p.Ile99Thr)
|
rs1209480034
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.4250A>G (p.Lys1417Arg)
|
rs770101520
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
|
rs747206756
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6479G>A (p.Arg2160His)
|
rs745582924
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6918C>A (p.Gly2306=)
|
rs146535920
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
|
rs750904635
|
0.00001
|
|
NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)
|
rs1328439199
|
0.00001
|
|
NM_001130965.3(SUN1):c.2025G>C (p.Gln675His)
|
rs781122957
|
0.00001
|
|
NM_001130987.2(DYSF):c.1001G>A (p.Arg334Gln)
|
rs760585799
|
0.00001
|
|
NM_001130987.2(DYSF):c.106A>T (p.Thr36Ser)
|
rs985470984
|
0.00001
|
|
NM_001130987.2(DYSF):c.1135G>A (p.Gly379Arg)
|
rs758663659
|
0.00001
|
|
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)
|
rs746610724
|
0.00001
|
|
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu)
|
rs767800266
|
0.00001
|
|
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val)
|
rs925623903
|
0.00001
|
|
NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)
|
rs199772109
|
0.00001
|
|
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)
|
rs1131691788
|
0.00001
|
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00001
|
|
NM_001130987.2(DYSF):c.1646A>G (p.Glu549Gly)
|
rs1042441672
|
0.00001
|
|
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys)
|
rs745472489
|
0.00001
|
|
NM_001130987.2(DYSF):c.1827G>C (p.Lys609Asn)
|
rs1399195955
|
0.00001
|
|
NM_001130987.2(DYSF):c.1930A>G (p.Met644Val)
|
rs773859302
|
0.00001
|
|
NM_001130987.2(DYSF):c.1954A>G (p.Thr652Ala)
|
rs754033290
|
0.00001
|
|
NM_001130987.2(DYSF):c.2114C>A (p.Ala705Asp)
|
rs769128984
|
0.00001
|
|
NM_001130987.2(DYSF):c.2300G>A (p.Ser767Asn)
|
rs2545753230
|
0.00001
|
|
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)
|
rs121908956
|
0.00001
|
|
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)
|
rs759675023
|
0.00001
|
|
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu)
|
rs759412160
|
0.00001
|
|
NM_001130987.2(DYSF):c.2657A>G (p.Asn886Ser)
|
rs559305759
|
0.00001
|
|
NM_001130987.2(DYSF):c.2962G>A (p.Asp988Asn)
|
rs1185823793
|
0.00001
|
|
NM_001130987.2(DYSF):c.3020C>T (p.Pro1007Leu)
|
rs756935601
|
0.00001
|
|
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala)
|
rs886042550
|
0.00001
|
|
NM_001130987.2(DYSF):c.3085+3G>A
|
rs769921150
|
0.00001
|
|
NM_001130987.2(DYSF):c.3202C>G (p.Leu1068Val)
|
rs781120136
|
0.00001
|
|
NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val)
|
rs200637035
|
0.00001
|
|
NM_001130987.2(DYSF):c.3275T>C (p.Leu1092Pro)
|
rs1414624488
|
0.00001
|
|
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys)
|
rs377079619
|
0.00001
|
|
NM_001130987.2(DYSF):c.3365C>T (p.Thr1122Met)
|
rs1000486931
|
0.00001
|
|
NM_001130987.2(DYSF):c.3368G>A (p.Gly1123Glu)
|
rs148489131
|
0.00001
|
|
NM_001130987.2(DYSF):c.3397G>A (p.Ala1133Thr)
|
rs200334333
|
0.00001
|
|
NM_001130987.2(DYSF):c.3440C>T (p.Ser1147Phe)
|
rs755476936
|
0.00001
|
|
NM_001130987.2(DYSF):c.3461G>A (p.Gly1154Asp)
|
rs2093191681
|
0.00001
|
|
NM_001130987.2(DYSF):c.3518G>A (p.Arg1173His)
|
rs376882262
|
0.00001
|
|
NM_001130987.2(DYSF):c.3550G>T (p.Ala1184Ser)
|
rs369341163
|
0.00001
|
|
NM_001130987.2(DYSF):c.3679G>A (p.Glu1227Lys)
|
rs773773555
|
0.00001
|
|
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe)
|
rs1392863221
|
0.00001
|
|
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)
|
rs747606668
|
0.00001
|
|
NM_001130987.2(DYSF):c.3766G>A (p.Glu1256Lys)
|
rs1291667876
|
0.00001
|
|
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala)
|
rs370620594
|
0.00001
|
|
NM_001130987.2(DYSF):c.3929T>A (p.Val1310Glu)
|
rs747160217
|
0.00001
|
|
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys)
|
rs536906283
|
0.00001
|
|
NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn)
|
rs927765259
|
0.00001
|
|
NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met)
|
rs527574888
|
0.00001
|
|
NM_001130987.2(DYSF):c.460G>C (p.Gly154Arg)
|
rs944496800
|
0.00001
|
|
NM_001130987.2(DYSF):c.4637C>T (p.Thr1546Ile)
|
rs781670260
|
0.00001
|
|
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)
|
rs1463145288
|
0.00001
|
|
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)
|
rs1553412643
|
0.00001
|
|
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln)
|
rs762398889
|
0.00001
|
|
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
|
rs771402331
|
0.00001
|
|
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln)
|
rs762675721
|
0.00001
|
|
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)
|
rs886056283
|
0.00001
|
|
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln)
|
rs533781748
|
0.00001
|
|
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)
|
rs201592500
|
0.00001
|
|
NM_001130987.2(DYSF):c.5687A>G (p.His1896Arg)
|
rs199601326
|
0.00001
|
|
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser)
|
rs886044266
|
0.00001
|
|
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)
|
rs543664648
|
0.00001
|
|
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)
|
rs886043489
|
0.00001
|
|
NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn)
|
rs771663815
|
0.00001
|
|
NM_001130987.2(DYSF):c.6239G>A (p.Arg2080Gln)
|
rs760119297
|
0.00001
|
|
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)
|
rs746663568
|
0.00001
|
|
NM_001130987.2(DYSF):c.832G>T (p.Ala278Ser)
|
rs776241212
|
0.00001
|
|
NM_001130987.2(DYSF):c.857T>G (p.Ile286Ser)
|
rs375448108
|
0.00001
|
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
|
NM_001130987.2(DYSF):c.938C>T (p.Pro313Leu)
|
rs886043967
|
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.3722G>A (p.Arg1241Gln)
|
rs886042648
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.734C>G (p.Ser245Cys)
|
rs574122648
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys)
|
rs1596344343
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)
|
rs765104792
|
0.00001
|
|
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
|
rs1303133332
|
0.00001
|
|
NM_001135254.2(PAX7):c.1235G>A (p.Gly412Asp)
|
rs1268130256
|
0.00001
|
|
NM_001135254.2(PAX7):c.1392G>C (p.Gln464His)
|
rs144242911
|
0.00001
|
|
NM_001135254.2(PAX7):c.307G>A (p.Gly103Ser)
|
rs745409821
|
0.00001
|
|
NM_001136191.3(KANK2):c.215C>T (p.Ser72Leu)
|
rs2078936618
|
0.00001
|
|
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr)
|
rs200663524
|
0.00001
|
|
NM_001142699.3(DLG2):c.770G>A (p.Arg257Gln)
|
rs765224774
|
0.00001
|
|
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
|
rs754649480
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.1400C>T (p.Ser467Leu)
|
rs1477354966
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.1531T>G (p.Tyr511Asp)
|
rs764371606
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.1721G>A (p.Gly574Asp)
|
rs1905109274
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.1821C>T (p.Leu607=)
|
rs1224466457
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2009T>G (p.Leu670Arg)
|
rs1419399811
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2207T>C (p.Leu736Pro)
|
rs999049540
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2420G>A (p.Arg807Gln)
|
rs1064797061
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.245A>G (p.His82Arg)
|
rs377204641
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2585C>T (p.Thr862Ile)
|
rs1028193449
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2593A>G (p.Ile865Val)
|
rs1041802348
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2801A>G (p.Gln934Arg)
|
rs1904929574
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2942G>A (p.Gly981Asp)
|
rs1216285611
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.2966T>A (p.Phe989Tyr)
|
rs938012206
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.3676A>G (p.Ile1226Val)
|
rs928741600
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.3775A>T (p.Thr1259Ser)
|
rs1229679044
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.3925C>T (p.His1309Tyr)
|
rs1240511456
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4018C>T (p.Arg1340Cys)
|
rs888911518
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4195C>T (p.Arg1399Trp)
|
rs762099228
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4351T>C (p.Trp1451Arg)
|
rs1255289713
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4685G>A (p.Arg1562Lys)
|
rs984713605
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4838C>T (p.Thr1613Ile)
|
rs1054953259
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4856G>A (p.Ser1619Asn)
|
rs764665558
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5111C>A (p.Ser1704Tyr)
|
rs1316283291
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5423A>G (p.His1808Arg)
|
rs939464944
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg)
|
rs367636785
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5719A>G (p.Thr1907Ala)
|
rs1422902558
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.572C>T (p.Thr191Met)
|
rs1048520135
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5776C>T (p.Arg1926Trp)
|
rs947329881
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5862C>T (p.Tyr1954=)
|
rs1374479088
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5866G>A (p.Ala1956Thr)
|
rs749842564
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5878G>A (p.Val1960Ile)
|
rs920083201
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5992G>A (p.Asp1998Asn)
|
rs1490989340
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.6411G>A (p.Met2137Ile)
|
rs1021360150
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.6506A>T (p.Lys2169Met)
|
rs1311091527
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.6640C>G (p.Leu2214Val)
|
rs911714449
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7081C>T (p.Arg2361Cys)
|
rs980506949
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7093G>A (p.Gly2365Arg)
|
rs1292201259
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7168C>T (p.Arg2390Trp)
|
rs540641036
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7283G>C (p.Ser2428Thr)
|
rs1911989551
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala)
|
rs780322188
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.742C>T (p.Leu248Phe)
|
rs1363120330
|
0.00001
|
|
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
|
rs995466112
|
0.00001
|
|
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser)
|
rs761104318
|
0.00001
|
|
NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)
|
rs2072763773
|
0.00001
|
|
NM_001145809.2(MYH14):c.4525C>T (p.Arg1509Cys)
|
rs758354733
|
0.00001
|
|
NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)
|
rs1203193073
|
0.00001
|
|
NM_001148.6(ANK2):c.5836G>A (p.Asp1946Asn)
|
rs200333546
|
0.00001
|
|
NM_001151.4(SLC25A4):c.782T>C (p.Ile261Thr)
|
rs778510320
|
0.00001
|
|
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg)
|
rs1187549360
|
0.00001
|
|
NM_001159699.2(FHL1):c.332G>A (p.Arg111Gln)
|
rs1569530369
|
0.00001
|
|
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser)
|
rs2073890274
|
0.00001
|
|
NM_001159699.2(FHL1):c.535G>A (p.Val179Met)
|
rs779919392
|
0.00001
|
|
NM_001159699.2(FHL1):c.852G>C (p.Gln284His)
|
rs774024150
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly)
|
rs760442123
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val)
|
rs201694465
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp)
|
rs747029218
|
0.00001
|
|
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)
|
rs577806985
|
0.00001
|
|
NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)
|
rs777720312
|
0.00001
|
|
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)
|
rs770469332
|
0.00001
|
|
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)
|
rs1409793017
|
0.00001
|
|
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)
|
rs767489473
|
0.00001
|
|
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)
|
rs1490885244
|
0.00001
|
|
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)
|
rs771996062
|
0.00001
|
|
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)
|
rs565167425
|
0.00001
|
|
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)
|
rs778245789
|
0.00001
|
|
NM_001163435.3(TBCK):c.60A>C (p.Pro20=)
|
rs775570874
|
0.00001
|
|
NM_001163809.2(WDR81):c.2395C>T (p.Arg799Cys)
|
rs556562354
|
0.00001
|
|
NM_001163809.2(WDR81):c.2426G>A (p.Arg809His)
|
rs555450261
|
0.00001
|
|
NM_001163809.2(WDR81):c.2932G>A (p.Gly978Ser)
|
rs777950860
|
0.00001
|
|
NM_001163809.2(WDR81):c.4020G>A (p.Ala1340=)
|
rs377573673
|
0.00001
|
|
NM_001163809.2(WDR81):c.5608G>A (p.Asp1870Asn)
|
rs1379060837
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.43T>C (p.Ser15Pro)
|
rs528095472
|
0.00001
|
|
NM_001164507.2(NEB):c.21334G>A (p.Glu7112Lys)
|
rs1354432941
|
0.00001
|
|
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
|
rs766163199
|
0.00001
|
|
NM_001164507.2(NEB):c.21403G>A (p.Asp7135Asn)
|
rs771186380
|
0.00001
|
|
NM_001164508.2(NEB):c.10041A>C (p.Leu3347Phe)
|
rs2098550915
|
0.00001
|
|
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg)
|
rs372053480
|
0.00001
|
|
NM_001164508.2(NEB):c.10117C>T (p.Arg3373Trp)
|
rs750824184
|
0.00001
|
|
NM_001164508.2(NEB):c.10123G>A (p.Ala3375Thr)
|
rs368202765
|
0.00001
|
|
NM_001164508.2(NEB):c.10265C>A (p.Pro3422His)
|
rs756592613
|
0.00001
|
|
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
|
rs367627899
|
0.00001
|
|
NM_001164508.2(NEB):c.10406C>T (p.Thr3469Ile)
|
rs1248696142
|
0.00001
|
|
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys)
|
rs1199616055
|
0.00001
|
|
NM_001164508.2(NEB):c.10777G>A (p.Asp3593Asn)
|
rs374468605
|
0.00001
|
|
NM_001164508.2(NEB):c.10825C>G (p.Gln3609Glu)
|
rs760365962
|
0.00001
|
|
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)
|
rs377027708
|
0.00001
|
|
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)
|
rs370189384
|
0.00001
|
|
NM_001164508.2(NEB):c.10993C>T (p.Arg3665Cys)
|
rs766254214
|
0.00001
|
|
NM_001164508.2(NEB):c.11023A>G (p.Thr3675Ala)
|
rs771318349
|
0.00001
|
|
NM_001164508.2(NEB):c.11060C>T (p.Ala3687Val)
|
rs2098272427
|
0.00001
|
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
|
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg)
|
rs761139484
|
0.00001
|
|
NM_001164508.2(NEB):c.12128G>C (p.Ser4043Thr)
|
rs2552227279
|
0.00001
|
|
NM_001164508.2(NEB):c.12190A>T (p.Met4064Leu)
|
rs778633575
|
0.00001
|
|
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr)
|
rs557283717
|
0.00001
|
|
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg)
|
rs199683595
|
0.00001
|
|
NM_001164508.2(NEB):c.1250G>T (p.Ser417Ile)
|
rs2099605421
|
0.00001
|
|
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu)
|
rs200298261
|
0.00001
|
|
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val)
|
rs959840049
|
0.00001
|
|
NM_001164508.2(NEB):c.1370A>T (p.Asn457Ile)
|
rs1262159982
|
0.00001
|
|
NM_001164508.2(NEB):c.1387G>A (p.Glu463Lys)
|
rs756639505
|
0.00001
|
|
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val)
|
rs761807814
|
0.00001
|
|
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr)
|
rs763012000
|
0.00001
|
|
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
|
rs760795493
|
0.00001
|
|
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys)
|
rs1000108046
|
0.00001
|
|
NM_001164508.2(NEB):c.1726A>G (p.Lys576Glu)
|
rs921909773
|
0.00001
|
|
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)
|
rs541672313
|
0.00001
|
|
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys)
|
rs1037281077
|
0.00001
|
|
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr)
|
rs780600292
|
0.00001
|
|
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys)
|
rs771214344
|
0.00001
|
|
NM_001164508.2(NEB):c.17651A>T (p.Asp5884Val)
|
rs2096504666
|
0.00001
|
|
NM_001164508.2(NEB):c.17692C>T (p.Pro5898Ser)
|
rs746552340
|
0.00001
|
|
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
|
rs1418690826
|
0.00001
|
|
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
|
rs760891450
|
0.00001
|
|
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726
|
0.00001
|
|
NM_001164508.2(NEB):c.18034G>A (p.Ala6012Thr)
|
rs750215416
|
0.00001
|
|
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys)
|
rs765174060
|
0.00001
|
|
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
|
rs752344851
|
0.00001
|
|
NM_001164508.2(NEB):c.18329T>C (p.Ile6110Thr)
|
rs1213971667
|
0.00001
|
|
NM_001164508.2(NEB):c.1865A>G (p.His622Arg)
|
rs993065543
|
0.00001
|
|
NM_001164508.2(NEB):c.18684G>A (p.Met6228Ile)
|
rs765872930
|
0.00001
|
|
NM_001164508.2(NEB):c.18871G>A (p.Ala6291Thr)
|
rs759568612
|
0.00001
|
|
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
|
rs1174034773
|
0.00001
|
|
NM_001164508.2(NEB):c.19102-3C>T
|
rs546610700
|
0.00001
|
|
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp)
|
rs746394316
|
0.00001
|
|
NM_001164508.2(NEB):c.1934A>G (p.Lys645Arg)
|
rs181642642
|
0.00001
|
|
NM_001164508.2(NEB):c.19489G>A (p.Val6497Ile)
|
rs777289377
|
0.00001
|
|
NM_001164508.2(NEB):c.19631T>C (p.Val6544Ala)
|
rs1393843624
|
0.00001
|
|
NM_001164508.2(NEB):c.19723C>T (p.Arg6575Cys)
|
rs757108531
|
0.00001
|
|
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
|
rs909344830
|
0.00001
|
|
NM_001164508.2(NEB):c.20022C>G (p.Ile6674Met)
|
rs1188035794
|
0.00001
|
|
NM_001164508.2(NEB):c.20113G>A (p.Val6705Ile)
|
rs774095156
|
0.00001
|
|
NM_001164508.2(NEB):c.20157+3A>G
|
rs932928993
|
0.00001
|
|
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu)
|
rs767593840
|
0.00001
|
|
NM_001164508.2(NEB):c.20262+3G>A
|
rs763862179
|
0.00001
|
|
NM_001164508.2(NEB):c.20365G>A (p.Asp6789Asn)
|
rs367773430
|
0.00001
|
|
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
|
rs1405498595
|
0.00001
|
|
NM_001164508.2(NEB):c.20455C>T (p.Arg6819Trp)
|
rs1282424661
|
0.00001
|
|
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
|
rs1002994666
|
0.00001
|
|
NM_001164508.2(NEB):c.20710G>A (p.Glu6904Lys)
|
rs781368292
|
0.00001
|
|
NM_001164508.2(NEB):c.20900A>G (p.Tyr6967Cys)
|
rs1033911248
|
0.00001
|
|
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
|
rs1173930790
|
0.00001
|
|
NM_001164508.2(NEB):c.21221A>G (p.Glu7074Gly)
|
rs1190090108
|
0.00001
|
|
NM_001164508.2(NEB):c.21399T>A (p.Asn7133Lys)
|
rs902237066
|
0.00001
|
|
NM_001164508.2(NEB):c.21584C>T (p.Thr7195Ile)
|
rs200104698
|
0.00001
|
|
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr)
|
rs1229421352
|
0.00001
|
|
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)
|
rs200826420
|
0.00001
|
|
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)
|
rs749168085
|
0.00001
|
|
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser)
|
rs751872533
|
0.00001
|
|
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)
|
rs778063345
|
0.00001
|
|
NM_001164508.2(NEB):c.2177A>G (p.Tyr726Cys)
|
rs2552267737
|
0.00001
|
|
NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)
|
rs376072545
|
0.00001
|
|
NM_001164508.2(NEB):c.21979G>C (p.Gly7327Arg)
|
rs754715428
|
0.00001
|
|
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)
|
rs780299519
|
0.00001
|
|
NM_001164508.2(NEB):c.22341G>C (p.Lys7447Asn)
|
rs544200886
|
0.00001
|
|
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
|
rs2084066462
|
0.00001
|
|
NM_001164508.2(NEB):c.22562T>C (p.Met7521Thr)
|
rs1248026713
|
0.00001
|
|
NM_001164508.2(NEB):c.22741A>G (p.Thr7581Ala)
|
rs747100627
|
0.00001
|
|
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln)
|
rs903199022
|
0.00001
|
|
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly)
|
rs776739582
|
0.00001
|
|
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)
|
rs536677256
|
0.00001
|
|
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly)
|
rs201498216
|
0.00001
|
|
NM_001164508.2(NEB):c.23696T>C (p.Leu7899Pro)
|
rs2068101845
|
0.00001
|
|
NM_001164508.2(NEB):c.23741C>T (p.Ser7914Leu)
|
rs763991246
|
0.00001
|
|
NM_001164508.2(NEB):c.23948T>G (p.Leu7983Trp)
|
rs2064479803
|
0.00001
|
|
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)
|
rs1202510810
|
0.00001
|
|
NM_001164508.2(NEB):c.24292A>G (p.Ile8098Val)
|
rs564643938
|
0.00001
|
|
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp)
|
rs960735572
|
0.00001
|
|
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)
|
rs751680308
|
0.00001
|
|
NM_001164508.2(NEB):c.2467A>G (p.Lys823Glu)
|
rs766277631
|
0.00001
|
|
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile)
|
rs2058043130
|
0.00001
|
|
NM_001164508.2(NEB):c.24832G>A (p.Glu8278Lys)
|
rs752529011
|
0.00001
|
|
NM_001164508.2(NEB):c.25142T>C (p.Met8381Thr)
|
rs1316386738
|
0.00001
|
|
NM_001164508.2(NEB):c.25150+3G>A
|
rs556224656
|
0.00001
|
|
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)
|
rs749034995
|
0.00001
|
|
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)
|
rs949111967
|
0.00001
|
|
NM_001164508.2(NEB):c.25261A>C (p.Thr8421Pro)
|
rs748048179
|
0.00001
|
|
NM_001164508.2(NEB):c.25429T>C (p.Tyr8477His)
|
rs1051639339
|
0.00001
|
|
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
|
rs756659726
|
0.00001
|
|
NM_001164508.2(NEB):c.2930A>G (p.Asp977Gly)
|
rs1414304435
|
0.00001
|
|
NM_001164508.2(NEB):c.2953C>T (p.Arg985Cys)
|
rs371287755
|
0.00001
|
|
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385
|
0.00001
|
|
NM_001164508.2(NEB):c.3011A>C (p.Gln1004Pro)
|
rs2099408496
|
0.00001
|
|
NM_001164508.2(NEB):c.311A>C (p.Lys104Thr)
|
rs994980701
|
0.00001
|
|
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser)
|
rs771687432
|
0.00001
|
|
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln)
|
rs750762588
|
0.00001
|
|
NM_001164508.2(NEB):c.3515C>T (p.Pro1172Leu)
|
rs1201003793
|
0.00001
|
|
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330
|
0.00001
|
|
NM_001164508.2(NEB):c.37T>C (p.Tyr13His)
|
rs1347004993
|
0.00001
|
|
NM_001164508.2(NEB):c.3911T>A (p.Ile1304Lys)
|
rs1174034398
|
0.00001
|
|
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578
|
0.00001
|
|
NM_001164508.2(NEB):c.422G>T (p.Gly141Val)
|
rs973669056
|
0.00001
|
|
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln)
|
rs2099312487
|
0.00001
|
|
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
|
rs1441898075
|
0.00001
|
|
NM_001164508.2(NEB):c.4384A>G (p.Lys1462Glu)
|
rs764730223
|
0.00001
|
|
NM_001164508.2(NEB):c.4478C>T (p.Ala1493Val)
|
rs772819515
|
0.00001
|
|
NM_001164508.2(NEB):c.4557C>A (p.Asp1519Glu)
|
rs2099254677
|
0.00001
|
|
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys)
|
rs1257025966
|
0.00001
|
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00001
|
|
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly)
|
rs774802662
|
0.00001
|
|
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp)
|
rs751602407
|
0.00001
|
|
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)
|
rs772492791
|
0.00001
|
|
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)
|
rs771495234
|
0.00001
|
|
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp)
|
rs369533357
|
0.00001
|
|
NM_001164508.2(NEB):c.533A>G (p.Asp178Gly)
|
rs779306921
|
0.00001
|
|
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly)
|
rs1466182533
|
0.00001
|
|
NM_001164508.2(NEB):c.6033C>T (p.Pro2011=)
|
rs773482640
|
0.00001
|
|
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)
|
rs756398214
|
0.00001
|
|
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965
|
0.00001
|
|
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg)
|
rs1003397118
|
0.00001
|
|
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
|
rs1373545076
|
0.00001
|
|
NM_001164508.2(NEB):c.6664A>G (p.Met2222Val)
|
rs201167928
|
0.00001
|
|
NM_001164508.2(NEB):c.6724A>G (p.Asn2242Asp)
|
rs1558874355
|
0.00001
|
|
NM_001164508.2(NEB):c.7106C>A (p.Ala2369Asp)
|
rs895959184
|
0.00001
|
|
NM_001164508.2(NEB):c.7138G>A (p.Asp2380Asn)
|
rs750113592
|
0.00001
|
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
|
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser)
|
rs776901478
|
0.00001
|
|
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097
|
0.00001
|
|
NM_001164508.2(NEB):c.7678G>A (p.Gly2560Ser)
|
rs775186355
|
0.00001
|
|
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile)
|
rs748066063
|
0.00001
|
|
NM_001164508.2(NEB):c.7781A>G (p.Glu2594Gly)
|
rs1407235038
|
0.00001
|
|
NM_001164508.2(NEB):c.7837A>C (p.Lys2613Gln)
|
rs1266884609
|
0.00001
|
|
NM_001164508.2(NEB):c.8129T>C (p.Leu2710Ser)
|
rs2098907423
|
0.00001
|
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
|
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
|
rs368800654
|
0.00001
|
|
NM_001164508.2(NEB):c.8416A>G (p.Ile2806Val)
|
rs1444333931
|
0.00001
|
|
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu)
|
rs765207403
|
0.00001
|
|
NM_001164508.2(NEB):c.8584G>A (p.Val2862Ile)
|
rs949616238
|
0.00001
|
|
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly)
|
rs370002964
|
0.00001
|
|
NM_001164508.2(NEB):c.8642G>A (p.Ser2881Asn)
|
rs374466769
|
0.00001
|
|
NM_001164508.2(NEB):c.9129G>T (p.Lys3043Asn)
|
rs369667745
|
0.00001
|
|
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys)
|
rs1335899216
|
0.00001
|
|
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile)
|
rs755604172
|
0.00001
|
|
NM_001164508.2(NEB):c.922A>G (p.Ser308Gly)
|
rs1348511610
|
0.00001
|
|
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys)
|
rs778306283
|
0.00001
|
|
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
|
rs779720220
|
0.00001
|
|
NM_001164508.2(NEB):c.966G>T (p.Gln322His)
|
rs757803976
|
0.00001
|
|
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
|
rs776643734
|
0.00001
|
|
NM_001164508.2(NEB):c.9920T>C (p.Met3307Thr)
|
rs764261051
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln)
|
rs755323236
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
|
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln)
|
rs138799232
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu)
|
rs746718015
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=)
|
rs1379533666
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
|
rs1689333436
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
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_001165963.4(SCN1A):c.83G>A (p.Arg28His)
|
rs398123601
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.4037C>T (p.Ser1346Leu)
|
rs977865061
|
0.00001
|
|
NM_001170535.3(ATAD3A):c.52C>T (p.Pro18Ser)
|
rs1413306192
|
0.00001
|
|
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu)
|
rs746163664
|
0.00001
|
|
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr)
|
rs565918098
|
0.00001
|
|
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
|
rs1485668022
|
0.00001
|
|
NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)
|
rs1428398700
|
0.00001
|
|
NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)
|
rs1353999175
|
0.00001
|
|
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
|
rs769253036
|
0.00001
|
|
NM_001171.6(ABCC6):c.1657G>A (p.Val553Ile)
|
rs558508305
|
0.00001
|
|
NM_001171.6(ABCC6):c.3226G>T (p.Val1076Phe)
|
rs780909519
|
0.00001
|
|
NM_001171613.2(PREPL):c.1058G>A (p.Arg353His)
|
rs766402014
|
0.00001
|
|
NM_001171613.2(PREPL):c.1629+30C>T
|
rs756069681
|
0.00001
|
|
NM_001171613.2(PREPL):c.1703C>T (p.Thr568Ile)
|
rs572873240
|
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_001173467.3(SP7):c.455G>C (p.Gly152Ala)
|
rs978781196
|
0.00001
|
|
NM_001173467.3(SP7):c.973G>A (p.Val325Ile)
|
rs375217122
|
0.00001
|
|
NM_001174150.2(ARL13B):c.834A>T (p.Gln278His)
|
rs772186970
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly)
|
rs766506036
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr)
|
rs553114356
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.14C>T (p.Pro5Leu)
|
rs977914775
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
|
rs1750312383
|
0.00001
|
|
NM_001183.6(ATP6AP1):c.216G>A (p.Leu72=)
|
rs782109311
|
0.00001
|
|
NM_001184.4(ATR):c.2681A>G (p.His894Arg)
|
rs774278641
|
0.00001
|
|
NM_001184.4(ATR):c.6002G>A (p.Arg2001Gln)
|
rs756650966
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)
|
rs2520975696
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His)
|
rs373996202
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
|
rs745989871
|
0.00001
|
|
NM_001190737.2(NFIB):c.30+9C>G
|
rs771277912
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.674T>G (p.Phe225Cys)
|
rs1864570695
|
0.00001
|
|
NM_001194.4(HCN2):c.2375C>A (p.Thr792Asn)
|
rs1341931180
|
0.00001
|
|
NM_001194998.2(CEP152):c.2895A>G (p.Gln965=)
|
rs1382711328
|
0.00001
|
|
NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln)
|
rs1042361244
|
0.00001
|
|
NM_001195263.2(PDZD7):c.319C>T (p.His107Tyr)
|
rs768919023
|
0.00001
|
|
NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu)
|
rs782226750
|
0.00001
|
|
NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)
|
rs1555046152
|
0.00001
|
|
NM_001197104.2(KMT2A):c.9635C>T (p.Thr3212Ile)
|
rs782079693
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp)
|
rs886051844
|
0.00001
|
|
NM_001199138.2(NLRC4):c.1798G>T (p.Glu600Ter)
|
rs1291753489
|
0.00001
|
|
NM_001199563.2(POPDC1):c.471G>T (p.Lys157Asn)
|
rs765386566
|
0.00001
|
|
NM_001199563.2(POPDC1):c.758T>C (p.Ile253Thr)
|
rs779914046
|
0.00001
|
|
NM_001199563.2(POPDC1):c.807A>T (p.Leu269Phe)
|
rs760129346
|
0.00001
|
|
NM_001199563.2(POPDC1):c.841C>G (p.Leu281Val)
|
rs964037211
|
0.00001
|
|
NM_001199563.2(POPDC1):c.931C>T (p.Arg311Trp)
|
rs371189369
|
0.00001
|
|
NM_001199563.2(POPDC1):c.937A>G (p.Thr313Ala)
|
rs547362212
|
0.00001
|
|
NM_001199563.2(POPDC1):c.938_939insT (p.Ser314fs)
|
rs931712021
|
0.00001
|
|
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
|
rs769454152
|
0.00001
|
|
NM_001204.7(BMPR2):c.2169C>A (p.Phe723Leu)
|
rs1374584904
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.3214G>A (p.Val1072Ile)
|
rs553844010
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.5677C>G (p.Gln1893Glu)
|
rs768172934
|
0.00001
|
|
NM_001206744.2(TPO):c.1840G>A (p.Ala614Thr)
|
rs752867884
|
0.00001
|
|
NM_001206744.2(TPO):c.218T>C (p.Leu73Pro)
|
rs1478800617
|
0.00001
|
|
NM_001206744.2(TPO):c.2665G>A (p.Gly889Arg)
|
rs546683738
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2100T>G (p.Ile700Met)
|
rs758338554
|
0.00001
|
|
NM_001212.4(C1QBP):c.576+2T>A
|
rs779379127
|
0.00001
|
|
NM_001231.5(CASQ1):c.142C>T (p.Arg48Cys)
|
rs1207649338
|
0.00001
|
|
NM_001231.5(CASQ1):c.592G>A (p.Glu198Lys)
|
rs200685636
|
0.00001
|
|
NM_001235.5(SERPINH1):c.119C>T (p.Ala40Val)
|
rs1281239903
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met)
|
rs778795541
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln)
|
rs1064795095
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4330A>G (p.Asn1444Asp)
|
rs1362815688
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4628G>A (p.Arg1543Gln)
|
rs749089911
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4777A>G (p.Ser1593Gly)
|
rs2523604162
|
0.00001
|
|
NM_001243133.2(NLRP3):c.1520A>G (p.Gln507Arg)
|
rs925004467
|
0.00001
|
|
NM_001243133.2(NLRP3):c.2177G>C (p.Ser726Thr)
|
rs200199289
|
0.00001
|
|
NM_001243133.2(NLRP3):c.2926A>C (p.Asn976His)
|
rs1278737134
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
|
rs769327341
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
|
rs2543619034
|
0.00001
|
|
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
|
rs1435674040
|
0.00001
|
|
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
|
rs771740082
|
0.00001
|
|
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)
|
rs779421883
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1393C>T (p.Arg465Trp)
|
rs748516266
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln)
|
rs1195594601
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2920G>A (p.Val974Ile)
|
rs577997489
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2990C>A (p.Ala997Asp)
|
rs2537328082
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His)
|
rs201653410
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu)
|
rs374417779
|
0.00001
|
|
NM_001256012.3(MYH10):c.4412G>A (p.Arg1471His)
|
rs1317314259
|
0.00001
|
|
NM_001256012.3(MYH10):c.5777G>A (p.Arg1926His)
|
rs753298336
|
0.00001
|
|
NM_001256071.3(RNF213):c.7465_7466del (p.Ala2489fs)
|
rs2078290693
|
0.00001
|
|
NM_001256071.3(RNF213):c.8635G>A (p.Val2879Ile)
|
rs1380284336
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1508A>G (p.Asn503Ser)
|
rs148705070
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1801G>A (p.Glu601Lys)
|
rs778255998
|
0.00001
|
|
NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met)
|
rs766379097
|
0.00001
|
|
NM_001256627.2(BRSK2):c.1472G>A (p.Arg491His)
|
rs531413807
|
0.00001
|
|
NM_001256627.2(BRSK2):c.218T>C (p.Ile73Thr)
|
rs1267635689
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.773G>C (p.Gly258Ala)
|
rs776223691
|
0.00001
|
|
NM_001257.5(CDH13):c.1133G>C (p.Gly378Ala)
|
rs1914436024
|
0.00001
|
|
NM_001257291.2(SLC9A7):c.1667A>G (p.Gln556Arg)
|
rs765296889
|
0.00001
|
|
NM_001257293.2(HNRNPH1):c.668G>T (p.Gly223Val)
|
rs1770700791
|
0.00001
|
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
|
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
|
rs571871217
|
0.00001
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
rs773570139
|
0.00001
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
rs150404541
|
0.00001
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
rs759536311
|
0.00001
|
|
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)
|
rs2018180805
|
0.00001
|
|
NM_001267052.2(UNC45B):c.1151C>T (p.Thr384Met)
|
rs548212884
|
0.00001
|
|
NM_001267550.2(TTN):c.100042G>A (p.Val33348Met)
|
rs757184326
|
0.00001
|
|
NM_001267550.2(TTN):c.100088A>T (p.Tyr33363Phe)
|
rs774468606
|
0.00001
|
|
NM_001267550.2(TTN):c.1000A>T (p.Thr334Ser)
|
rs966594851
|
0.00001
|
|
NM_001267550.2(TTN):c.100282T>A (p.Tyr33428Asn)
|
rs766455406
|
0.00001
|
|
NM_001267550.2(TTN):c.100303A>C (p.Lys33435Gln)
|
rs773848816
|
0.00001
|
|
NM_001267550.2(TTN):c.100457C>T (p.Thr33486Ile)
|
rs1024625225
|
0.00001
|
|
NM_001267550.2(TTN):c.100648G>A (p.Gly33550Ser)
|
rs775985787
|
0.00001
|
|
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp)
|
rs370253076
|
0.00001
|
|
NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile)
|
rs763323132
|
0.00001
|
|
NM_001267550.2(TTN):c.100903C>T (p.Leu33635Phe)
|
rs879048474
|
0.00001
|
|
NM_001267550.2(TTN):c.100998C>G (p.Phe33666Leu)
|
rs752263533
|
0.00001
|
|
NM_001267550.2(TTN):c.10103T>C (p.Val3368Ala)
|
rs149309988
|
0.00001
|
|
NM_001267550.2(TTN):c.101062G>T (p.Asp33688Tyr)
|
rs1276191035
|
0.00001
|
|
NM_001267550.2(TTN):c.1012G>T (p.Gly338Cys)
|
rs1229850188
|
0.00001
|
|
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys)
|
rs1484936368
|
0.00001
|
|
NM_001267550.2(TTN):c.101410A>G (p.Met33804Val)
|
rs887802370
|
0.00001
|
|
NM_001267550.2(TTN):c.101449G>A (p.Glu33817Lys)
|
rs771596824
|
0.00001
|
|
NM_001267550.2(TTN):c.101609C>G (p.Ala33870Gly)
|
rs935055445
|
0.00001
|
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
|
NM_001267550.2(TTN):c.101805T>G (p.Ile33935Met)
|
rs76106451
|
0.00001
|
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
|
NM_001267550.2(TTN):c.101981C>A (p.Thr33994Lys)
|
rs1419643205
|
0.00001
|
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
|
NM_001267550.2(TTN):c.102116T>C (p.Phe34039Ser)
|
rs1553496582
|
0.00001
|
|
NM_001267550.2(TTN):c.102139A>G (p.Met34047Val)
|
rs755244797
|
0.00001
|
|
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)
|
rs752582515
|
0.00001
|
|
NM_001267550.2(TTN):c.102194C>T (p.Ser34065Leu)
|
rs769936820
|
0.00001
|
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
|
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser)
|
rs375332499
|
0.00001
|
|
NM_001267550.2(TTN):c.102712C>T (p.Arg34238Cys)
|
rs1423837818
|
0.00001
|
|
NM_001267550.2(TTN):c.10280G>A (p.Ser3427Asn)
|
rs368333336
|
0.00001
|
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
|
NM_001267550.2(TTN):c.102950A>G (p.Gln34317Arg)
|
rs745933614
|
0.00001
|
|
NM_001267550.2(TTN):c.102956C>T (p.Thr34319Ile)
|
rs549304089
|
0.00001
|
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
|
NM_001267550.2(TTN):c.103121G>T (p.Cys34374Phe)
|
rs368493317
|
0.00001
|
|
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro)
|
rs947426325
|
0.00001
|
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00001
|
|
NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly)
|
rs745616639
|
0.00001
|
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
|
NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)
|
rs1321633640
|
0.00001
|
|
NM_001267550.2(TTN):c.103990C>G (p.Leu34664Val)
|
rs775633719
|
0.00001
|
|
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr)
|
rs886042330
|
0.00001
|
|
NM_001267550.2(TTN):c.104105A>G (p.His34702Arg)
|
rs1190780620
|
0.00001
|
|
NM_001267550.2(TTN):c.104250T>C (p.His34750=)
|
rs745463889
|
0.00001
|
|
NM_001267550.2(TTN):c.104471A>G (p.His34824Arg)
|
rs769150165
|
0.00001
|
|
NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu)
|
rs1170097065
|
0.00001
|
|
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)
|
rs794729566
|
0.00001
|
|
NM_001267550.2(TTN):c.104867G>A (p.Gly34956Asp)
|
rs145748940
|
0.00001
|
|
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu)
|
rs934181908
|
0.00001
|
|
NM_001267550.2(TTN):c.104952A>C (p.Glu34984Asp)
|
rs1434654451
|
0.00001
|
|
NM_001267550.2(TTN):c.104966A>G (p.His34989Arg)
|
rs1187175097
|
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.105064G>A (p.Glu35022Lys)
|
rs727504977
|
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.105601G>A (p.Val35201Met)
|
rs397517797
|
0.00001
|
|
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp)
|
rs752729073
|
0.00001
|
|
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)
|
rs370476812
|
0.00001
|
|
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His)
|
rs1451951231
|
0.00001
|
|
NM_001267550.2(TTN):c.106208C>T (p.Thr35403Ile)
|
rs1238858589
|
0.00001
|
|
NM_001267550.2(TTN):c.106210G>A (p.Val35404Ile)
|
rs752846394
|
0.00001
|
|
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)
|
rs369703073
|
0.00001
|
|
NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg)
|
rs1474079403
|
0.00001
|
|
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)
|
rs375572802
|
0.00001
|
|
NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro)
|
rs1304855425
|
0.00001
|
|
NM_001267550.2(TTN):c.107111T>C (p.Phe35704Ser)
|
rs1422086577
|
0.00001
|
|
NM_001267550.2(TTN):c.107182G>A (p.Glu35728Lys)
|
rs764891218
|
0.00001
|
|
NM_001267550.2(TTN):c.107218C>G (p.Leu35740Val)
|
rs1176056991
|
0.00001
|
|
NM_001267550.2(TTN):c.107320A>G (p.Ile35774Val)
|
rs774401824
|
0.00001
|
|
NM_001267550.2(TTN):c.107393C>T (p.Pro35798Leu)
|
rs886038722
|
0.00001
|
|
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys)
|
rs372841288
|
0.00001
|
|
NM_001267550.2(TTN):c.107630T>C (p.Met35877Thr)
|
rs375824821
|
0.00001
|
|
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)
|
rs769141222
|
0.00001
|
|
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu)
|
rs780316966
|
0.00001
|
|
NM_001267550.2(TTN):c.107920G>A (p.Gly35974Arg)
|
rs372653064
|
0.00001
|
|
NM_001267550.2(TTN):c.107974T>C (p.Ter35992Gln)
|
rs1285918619
|
0.00001
|
|
NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro)
|
rs376015894
|
0.00001
|
|
NM_001267550.2(TTN):c.14246G>A (p.Arg4749Gln)
|
rs763823518
|
0.00001
|
|
NM_001267550.2(TTN):c.14307G>A (p.Glu4769=)
|
rs773445915
|
0.00001
|
|
NM_001267550.2(TTN):c.14459G>A (p.Gly4820Glu)
|
rs376364888
|
0.00001
|
|
NM_001267550.2(TTN):c.14485C>A (p.Gln4829Lys)
|
rs748930233
|
0.00001
|
|
NM_001267550.2(TTN):c.14674A>G (p.Lys4892Glu)
|
rs1200349655
|
0.00001
|
|
NM_001267550.2(TTN):c.14699C>T (p.Ala4900Val)
|
rs771948633
|
0.00001
|
|
NM_001267550.2(TTN):c.14734G>T (p.Asp4912Tyr)
|
rs1177138515
|
0.00001
|
|
NM_001267550.2(TTN):c.14887T>C (p.Ser4963Pro)
|
rs754692297
|
0.00001
|
|
NM_001267550.2(TTN):c.14950G>A (p.Val4984Met)
|
rs903648091
|
0.00001
|
|
NM_001267550.2(TTN):c.14954A>C (p.Lys4985Thr)
|
rs750177841
|
0.00001
|
|
NM_001267550.2(TTN):c.15122T>G (p.Ile5041Ser)
|
rs752780850
|
0.00001
|
|
NM_001267550.2(TTN):c.15211A>G (p.Ile5071Val)
|
rs777480345
|
0.00001
|
|
NM_001267550.2(TTN):c.15259G>A (p.Val5087Met)
|
rs751652571
|
0.00001
|
|
NM_001267550.2(TTN):c.15388G>A (p.Val5130Met)
|
rs765530283
|
0.00001
|
|
NM_001267550.2(TTN):c.15686A>C (p.Asp5229Ala)
|
rs373355675
|
0.00001
|
|
NM_001267550.2(TTN):c.1598A>G (p.Lys533Arg)
|
rs2093538622
|
0.00001
|
|
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met)
|
rs372176136
|
0.00001
|
|
NM_001267550.2(TTN):c.16148C>T (p.Ser5383Phe)
|
rs774061411
|
0.00001
|
|
NM_001267550.2(TTN):c.16171T>C (p.Phe5391Leu)
|
rs1290194262
|
0.00001
|
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
|
NM_001267550.2(TTN):c.16549T>G (p.Ser5517Ala)
|
rs200520316
|
0.00001
|
|
NM_001267550.2(TTN):c.16556C>T (p.Thr5519Met)
|
rs1048810880
|
0.00001
|
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
|
NM_001267550.2(TTN):c.16879T>C (p.Cys5627Arg)
|
rs779925659
|
0.00001
|
|
NM_001267550.2(TTN):c.16886G>A (p.Ser5629Asn)
|
rs758096327
|
0.00001
|
|
NM_001267550.2(TTN):c.17128C>T (p.Arg5710Trp)
|
rs1183941490
|
0.00001
|
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
|
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)
|
rs770310501
|
0.00001
|
|
NM_001267550.2(TTN):c.17303A>G (p.Asp5768Gly)
|
rs1251438106
|
0.00001
|
|
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)
|
rs928844023
|
0.00001
|
|
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)
|
rs727505221
|
0.00001
|
|
NM_001267550.2(TTN):c.17843T>C (p.Ile5948Thr)
|
rs772946744
|
0.00001
|
|
NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser)
|
rs759852969
|
0.00001
|
|
NM_001267550.2(TTN):c.18151G>A (p.Glu6051Lys)
|
rs532089368
|
0.00001
|
|
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val)
|
rs374012753
|
0.00001
|
|
NM_001267550.2(TTN):c.18521G>T (p.Gly6174Val)
|
rs2529951606
|
0.00001
|
|
NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu)
|
rs756791385
|
0.00001
|
|
NM_001267550.2(TTN):c.18740T>G (p.Leu6247Trp)
|
rs2079986312
|
0.00001
|
|
NM_001267550.2(TTN):c.19067A>T (p.Asn6356Ile)
|
rs773854949
|
0.00001
|
|
NM_001267550.2(TTN):c.1907A>C (p.Lys636Thr)
|
rs1310229986
|
0.00001
|
|
NM_001267550.2(TTN):c.1925T>C (p.Ile642Thr)
|
rs772036467
|
0.00001
|
|
NM_001267550.2(TTN):c.1927A>G (p.Thr643Ala)
|
rs879219596
|
0.00001
|
|
NM_001267550.2(TTN):c.19315G>A (p.Val6439Met)
|
rs727505289
|
0.00001
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
0.00001
|
|
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu)
|
rs373750655
|
0.00001
|
|
NM_001267550.2(TTN):c.19484G>A (p.Gly6495Asp)
|
rs182633829
|
0.00001
|
|
NM_001267550.2(TTN):c.1975A>G (p.Ile659Val)
|
rs752560835
|
0.00001
|
|
NM_001267550.2(TTN):c.19910A>G (p.Asp6637Gly)
|
rs1240731918
|
0.00001
|
|
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)
|
rs776748717
|
0.00001
|
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
|
NM_001267550.2(TTN):c.2021G>A (p.Arg674Lys)
|
rs2093372335
|
0.00001
|
|
NM_001267550.2(TTN):c.20327C>T (p.Ala6776Val)
|
rs200031306
|
0.00001
|
|
NM_001267550.2(TTN):c.2042C>T (p.Thr681Ile)
|
rs551313395
|
0.00001
|
|
NM_001267550.2(TTN):c.20472C>G (p.Asp6824Glu)
|
rs1418781337
|
0.00001
|
|
NM_001267550.2(TTN):c.20482A>G (p.Ile6828Val)
|
rs1432785096
|
0.00001
|
|
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)
|
rs752107739
|
0.00001
|
|
NM_001267550.2(TTN):c.20639C>T (p.Ala6880Val)
|
rs763878064
|
0.00001
|
|
NM_001267550.2(TTN):c.20759C>T (p.Ala6920Val)
|
rs886042589
|
0.00001
|
|
NM_001267550.2(TTN):c.20896A>G (p.Thr6966Ala)
|
rs764077044
|
0.00001
|
|
NM_001267550.2(TTN):c.21107A>T (p.Asp7036Val)
|
rs767695386
|
0.00001
|
|
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)
|
rs148072021
|
0.00001
|
|
NM_001267550.2(TTN):c.21410C>T (p.Pro7137Leu)
|
rs886043853
|
0.00001
|
|
NM_001267550.2(TTN):c.21826T>A (p.Cys7276Ser)
|
rs1362677027
|
0.00001
|
|
NM_001267550.2(TTN):c.21947T>G (p.Leu7316Arg)
|
rs745745237
|
0.00001
|
|
NM_001267550.2(TTN):c.2200G>A (p.Glu734Lys)
|
rs761720375
|
0.00001
|
|
NM_001267550.2(TTN):c.22018G>A (p.Val7340Ile)
|
rs566468573
|
0.00001
|
|
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)
|
rs754432983
|
0.00001
|
|
NM_001267550.2(TTN):c.22103A>C (p.Glu7368Ala)
|
rs1420368632
|
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.22499C>T (p.Ala7500Val)
|
rs1560689342
|
0.00001
|
|
NM_001267550.2(TTN):c.22511C>T (p.Ala7504Val)
|
rs2529481421
|
0.00001
|
|
NM_001267550.2(TTN):c.23044G>A (p.Glu7682Lys)
|
rs761584703
|
0.00001
|
|
NM_001267550.2(TTN):c.23206G>T (p.Val7736Phe)
|
rs770301886
|
0.00001
|
|
NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter)
|
rs372250586
|
0.00001
|
|
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)
|
rs748111134
|
0.00001
|
|
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)
|
rs144032104
|
0.00001
|
|
NM_001267550.2(TTN):c.23539A>G (p.Ile7847Val)
|
rs1268176947
|
0.00001
|
|
NM_001267550.2(TTN):c.23617G>A (p.Asp7873Asn)
|
rs753929851
|
0.00001
|
|
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile)
|
rs370939248
|
0.00001
|
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
|
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn)
|
rs369302142
|
0.00001
|
|
NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys)
|
rs1363515138
|
0.00001
|
|
NM_001267550.2(TTN):c.23957C>T (p.Ser7986Phe)
|
rs528627735
|
0.00001
|
|
NM_001267550.2(TTN):c.24011T>G (p.Leu8004Trp)
|
rs1274821392
|
0.00001
|
|
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)
|
rs757042397
|
0.00001
|
|
NM_001267550.2(TTN):c.2425C>T (p.Pro809Ser)
|
rs775097194
|
0.00001
|
|
NM_001267550.2(TTN):c.24365A>T (p.Glu8122Val)
|
rs757736721
|
0.00001
|
|
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)
|
rs377762626
|
0.00001
|
|
NM_001267550.2(TTN):c.24750T>C (p.Gly8250=)
|
rs765413899
|
0.00001
|
|
NM_001267550.2(TTN):c.24761G>C (p.Cys8254Ser)
|
rs776063057
|
0.00001
|
|
NM_001267550.2(TTN):c.24839C>T (p.Pro8280Leu)
|
rs375219172
|
0.00001
|
|
NM_001267550.2(TTN):c.24879T>C (p.Ile8293=)
|
rs1221548315
|
0.00001
|
|
NM_001267550.2(TTN):c.25144C>T (p.Arg8382Cys)
|
rs776519143
|
0.00001
|
|
NM_001267550.2(TTN):c.25148T>C (p.Ile8383Thr)
|
rs760613642
|
0.00001
|
|
NM_001267550.2(TTN):c.25154G>C (p.Gly8385Ala)
|
rs775560531
|
0.00001
|
|
NM_001267550.2(TTN):c.25155C>T (p.Gly8385=)
|
rs772383867
|
0.00001
|
|
NM_001267550.2(TTN):c.251A>G (p.Asn84Ser)
|
rs912344670
|
0.00001
|
|
NM_001267550.2(TTN):c.25286A>G (p.Gln8429Arg)
|
rs757938943
|
0.00001
|
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
|
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys)
|
rs369517119
|
0.00001
|
|
NM_001267550.2(TTN):c.25535C>T (p.Thr8512Ile)
|
rs764620561
|
0.00001
|
|
NM_001267550.2(TTN):c.25567G>A (p.Ala8523Thr)
|
rs1288397933
|
0.00001
|
|
NM_001267550.2(TTN):c.25633G>A (p.Val8545Ile)
|
rs1246177699
|
0.00001
|
|
NM_001267550.2(TTN):c.25650G>T (p.Arg8550Ser)
|
rs2077385819
|
0.00001
|
|
NM_001267550.2(TTN):c.25759G>A (p.Glu8587Lys)
|
rs760340908
|
0.00001
|
|
NM_001267550.2(TTN):c.25961C>T (p.Thr8654Ile)
|
rs547017929
|
0.00001
|
|
NM_001267550.2(TTN):c.26076G>A (p.Met8692Ile)
|
rs1041074010
|
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.26590T>C (p.Phe8864Leu)
|
rs762812203
|
0.00001
|
|
NM_001267550.2(TTN):c.26641T>G (p.Phe8881Val)
|
rs1174332291
|
0.00001
|
|
NM_001267550.2(TTN):c.26827G>A (p.Val8943Ile)
|
rs529187709
|
0.00001
|
|
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe)
|
rs878969676
|
0.00001
|
|
NM_001267550.2(TTN):c.26984A>G (p.Asp8995Gly)
|
rs747976104
|
0.00001
|
|
NM_001267550.2(TTN):c.27049+28T>A
|
rs780384620
|
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.27212A>T (p.Asp9071Val)
|
rs886044486
|
0.00001
|
|
NM_001267550.2(TTN):c.27217G>C (p.Val9073Leu)
|
rs756400799
|
0.00001
|
|
NM_001267550.2(TTN):c.2752G>A (p.Val918Ile)
|
rs770208807
|
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.28084A>G (p.Lys9362Glu)
|
rs774589686
|
0.00001
|
|
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)
|
rs760466007
|
0.00001
|
|
NM_001267550.2(TTN):c.28457T>C (p.Ile9486Thr)
|
rs746742751
|
0.00001
|
|
NM_001267550.2(TTN):c.28495C>T (p.Leu9499Phe)
|
rs1060500573
|
0.00001
|
|
NM_001267550.2(TTN):c.28789A>G (p.Thr9597Ala)
|
rs761562146
|
0.00001
|
|
NM_001267550.2(TTN):c.28880G>A (p.Gly9627Asp)
|
rs878908638
|
0.00001
|
|
NM_001267550.2(TTN):c.29221C>A (p.Gln9741Lys)
|
rs773039731
|
0.00001
|
|
NM_001267550.2(TTN):c.29420A>G (p.Lys9807Arg)
|
rs2475368651
|
0.00001
|
|
NM_001267550.2(TTN):c.29519G>A (p.Arg9840His)
|
rs558220856
|
0.00001
|
|
NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly)
|
rs794727011
|
0.00001
|
|
NM_001267550.2(TTN):c.29789T>G (p.Ile9930Ser)
|
rs757077819
|
0.00001
|
|
NM_001267550.2(TTN):c.29854G>C (p.Asp9952His)
|
rs773555150
|
0.00001
|
|
NM_001267550.2(TTN):c.29857G>T (p.Gly9953Cys)
|
rs770212603
|
0.00001
|
|
NM_001267550.2(TTN):c.29882A>G (p.Lys9961Arg)
|
rs778649000
|
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.30040G>C (p.Val10014Leu)
|
rs745949099
|
0.00001
|
|
NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala)
|
rs754368714
|
0.00001
|
|
NM_001267550.2(TTN):c.3007C>T (p.Arg1003Cys)
|
rs774551765
|
0.00001
|
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
|
NM_001267550.2(TTN):c.301A>G (p.Thr101Ala)
|
rs138945705
|
0.00001
|
|
NM_001267550.2(TTN):c.30220G>A (p.Glu10074Lys)
|
rs794729402
|
0.00001
|
|
NM_001267550.2(TTN):c.30447C>A (p.Val10149=)
|
rs1308539880
|
0.00001
|
|
NM_001267550.2(TTN):c.30503C>T (p.Thr10168Met)
|
rs746275042
|
0.00001
|
|
NM_001267550.2(TTN):c.30556G>T (p.Val10186Phe)
|
rs1489431059
|
0.00001
|
|
NM_001267550.2(TTN):c.30605C>T (p.Pro10202Leu)
|
rs769528182
|
0.00001
|
|
NM_001267550.2(TTN):c.30629C>G (p.Pro10210Arg)
|
rs368306416
|
0.00001
|
|
NM_001267550.2(TTN):c.31060A>G (p.Lys10354Glu)
|
rs373209880
|
0.00001
|
|
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys)
|
rs901197333
|
0.00001
|
|
NM_001267550.2(TTN):c.313A>C (p.Asn105His)
|
rs780972429
|
0.00001
|
|
NM_001267550.2(TTN):c.31517C>G (p.Pro10506Arg)
|
rs539699936
|
0.00001
|
|
NM_001267550.2(TTN):c.31557C>T (p.His10519=)
|
rs753136249
|
0.00001
|
|
NM_001267550.2(TTN):c.3157G>A (p.Glu1053Lys)
|
rs775979333
|
0.00001
|
|
NM_001267550.2(TTN):c.3169G>A (p.Val1057Ile)
|
rs780035225
|
0.00001
|
|
NM_001267550.2(TTN):c.31721C>T (p.Pro10574Leu)
|
rs767088271
|
0.00001
|
|
NM_001267550.2(TTN):c.31778A>G (p.Lys10593Arg)
|
rs1432279234
|
0.00001
|
|
NM_001267550.2(TTN):c.31927+1G>A
|
rs1553852989
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+1G>T
|
rs1471534246
|
0.00001
|
|
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val)
|
rs759873829
|
0.00001
|
|
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu)
|
rs573756163
|
0.00001
|
|
NM_001267550.2(TTN):c.32114C>T (p.Thr10705Ile)
|
rs531107853
|
0.00001
|
|
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val)
|
rs528216574
|
0.00001
|
|
NM_001267550.2(TTN):c.3253A>G (p.Ile1085Val)
|
rs2092854519
|
0.00001
|
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
|
NM_001267550.2(TTN):c.32852T>C (p.Ile10951Thr)
|
rs1456412833
|
0.00001
|
|
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val)
|
rs773225325
|
0.00001
|
|
NM_001267550.2(TTN):c.32870A>T (p.Glu10957Val)
|
rs1353144159
|
0.00001
|
|
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala)
|
rs776641064
|
0.00001
|
|
NM_001267550.2(TTN):c.3304G>A (p.Gly1102Arg)
|
rs1016142990
|
0.00001
|
|
NM_001267550.2(TTN):c.33127C>T (p.Pro11043Ser)
|
rs746514747
|
0.00001
|
|
NM_001267550.2(TTN):c.33172+3A>G
|
rs2069431645
|
0.00001
|
|
NM_001267550.2(TTN):c.33401T>C (p.Val11134Ala)
|
rs774455979
|
0.00001
|
|
NM_001267550.2(TTN):c.33419-2A>C
|
rs756841034
|
0.00001
|
|
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser)
|
rs377760800
|
0.00001
|
|
NM_001267550.2(TTN):c.33653C>T (p.Pro11218Leu)
|
rs765300403
|
0.00001
|
|
NM_001267550.2(TTN):c.33688G>A (p.Glu11230Lys)
|
rs759808680
|
0.00001
|
|
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu)
|
rs1336824666
|
0.00001
|
|
NM_001267550.2(TTN):c.34088T>A (p.Val11363Asp)
|
rs766370278
|
0.00001
|
|
NM_001267550.2(TTN):c.34180G>A (p.Glu11394Lys)
|
rs372320928
|
0.00001
|
|
NM_001267550.2(TTN):c.34381C>A (p.Pro11461Thr)
|
rs1342527198
|
0.00001
|
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
|
NM_001267550.2(TTN):c.34650A>C (p.Glu11550Asp)
|
rs747549288
|
0.00001
|
|
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser)
|
rs556948427
|
0.00001
|
|
NM_001267550.2(TTN):c.35012T>G (p.Val11671Gly)
|
rs879054010
|
0.00001
|
|
NM_001267550.2(TTN):c.35041G>A (p.Glu11681Lys)
|
rs557526069
|
0.00001
|
|
NM_001267550.2(TTN):c.35254C>A (p.Pro11752Thr)
|
rs760509158
|
0.00001
|
|
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr)
|
rs1393138345
|
0.00001
|
|
NM_001267550.2(TTN):c.35359G>A (p.Glu11787Lys)
|
rs777183022
|
0.00001
|
|
NM_001267550.2(TTN):c.35377C>T (p.Pro11793Ser)
|
rs1221569096
|
0.00001
|
|
NM_001267550.2(TTN):c.35380A>G (p.Thr11794Ala)
|
rs751454643
|
0.00001
|
|
NM_001267550.2(TTN):c.3569A>G (p.Gln1190Arg)
|
rs879243952
|
0.00001
|
|
NM_001267550.2(TTN):c.3598C>T (p.Pro1200Ser)
|
rs1458124138
|
0.00001
|
|
NM_001267550.2(TTN):c.3737A>T (p.His1246Leu)
|
rs201988645
|
0.00001
|
|
NM_001267550.2(TTN):c.3822T>G (p.Asp1274Glu)
|
rs762080939
|
0.00001
|
|
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)
|
rs748755381
|
0.00001
|
|
NM_001267550.2(TTN):c.39065T>A (p.Val13022Asp)
|
rs1306869040
|
0.00001
|
|
NM_001267550.2(TTN):c.39070C>T (p.Pro13024Ser)
|
rs766026944
|
0.00001
|
|
NM_001267550.2(TTN):c.39077A>G (p.Lys13026Arg)
|
rs2154250782
|
0.00001
|
|
NM_001267550.2(TTN):c.39079A>G (p.Lys13027Glu)
|
rs761060142
|
0.00001
|
|
NM_001267550.2(TTN):c.39344T>C (p.Val13115Ala)
|
rs762713897
|
0.00001
|
|
NM_001267550.2(TTN):c.39384C>T (p.Thr13128=)
|
rs746067865
|
0.00001
|
|
NM_001267550.2(TTN):c.3942G>A (p.Met1314Ile)
|
rs761039819
|
0.00001
|
|
NM_001267550.2(TTN):c.39440A>T (p.Lys13147Ile)
|
rs1031291940
|
0.00001
|
|
NM_001267550.2(TTN):c.39553G>A (p.Glu13185Lys)
|
rs758150185
|
0.00001
|
|
NM_001267550.2(TTN):c.39596C>T (p.Pro13199Leu)
|
rs760848660
|
0.00001
|
|
NM_001267550.2(TTN):c.39709+3A>G
|
rs543584748
|
0.00001
|
|
NM_001267550.2(TTN):c.39841A>G (p.Ile13281Val)
|
rs761891774
|
0.00001
|
|
NM_001267550.2(TTN):c.39988A>G (p.Lys13330Glu)
|
rs1300736291
|
0.00001
|
|
NM_001267550.2(TTN):c.4019A>G (p.Asp1340Gly)
|
rs780035210
|
0.00001
|
|
NM_001267550.2(TTN):c.40316T>C (p.Val13439Ala)
|
rs1553761103
|
0.00001
|
|
NM_001267550.2(TTN):c.40414C>A (p.Pro13472Thr)
|
rs199705789
|
0.00001
|
|
NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu)
|
rs371714559
|
0.00001
|
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
|
NM_001267550.2(TTN):c.40789G>A (p.Val13597Met)
|
rs1396659739
|
0.00001
|
|
NM_001267550.2(TTN):c.40841C>T (p.Ala13614Val)
|
rs765191880
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-3C>A
|
rs746615904
|
0.00001
|
|
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu)
|
rs777187629
|
0.00001
|
|
NM_001267550.2(TTN):c.40951C>A (p.Pro13651Thr)
|
rs756727745
|
0.00001
|
|
NM_001267550.2(TTN):c.41146A>G (p.Ile13716Val)
|
rs531807386
|
0.00001
|
|
NM_001267550.2(TTN):c.4118C>T (p.Ala1373Val)
|
rs139294675
|
0.00001
|
|
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His)
|
rs370878642
|
0.00001
|
|
NM_001267550.2(TTN):c.41402G>A (p.Ser13801Asn)
|
rs757590541
|
0.00001
|
|
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His)
|
rs764850788
|
0.00001
|
|
NM_001267550.2(TTN):c.41439G>A (p.Arg13813=)
|
rs370755303
|
0.00001
|
|
NM_001267550.2(TTN):c.41519A>G (p.Asn13840Ser)
|
rs760261561
|
0.00001
|
|
NM_001267550.2(TTN):c.41540C>T (p.Ala13847Val)
|
rs1439068447
|
0.00001
|
|
NM_001267550.2(TTN):c.41642G>A (p.Arg13881Gln)
|
rs1268138413
|
0.00001
|
|
NM_001267550.2(TTN):c.41652T>G (p.His13884Gln)
|
rs1361052408
|
0.00001
|
|
NM_001267550.2(TTN):c.41690T>C (p.Ile13897Thr)
|
rs1288360484
|
0.00001
|
|
NM_001267550.2(TTN):c.416G>A (p.Arg139Gln)
|
rs780003580
|
0.00001
|
|
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His)
|
rs540582993
|
0.00001
|
|
NM_001267550.2(TTN):c.42034A>G (p.Ile14012Val)
|
rs1425644741
|
0.00001
|
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
|
NM_001267550.2(TTN):c.42335A>G (p.Asn14112Ser)
|
rs749717066
|
0.00001
|
|
NM_001267550.2(TTN):c.42421A>G (p.Arg14141Gly)
|
rs397517567
|
0.00001
|
|
NM_001267550.2(TTN):c.42623T>C (p.Ile14208Thr)
|
rs1391653235
|
0.00001
|
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
|
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)
|
rs1018666766
|
0.00001
|
|
NM_001267550.2(TTN):c.43343C>T (p.Thr14448Ile)
|
rs545318911
|
0.00001
|
|
NM_001267550.2(TTN):c.43382A>G (p.Lys14461Arg)
|
rs887333870
|
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.43857T>G (p.Phe14619Leu)
|
rs202179380
|
0.00001
|
|
NM_001267550.2(TTN):c.44018G>A (p.Arg14673Gln)
|
rs764971622
|
0.00001
|
|
NM_001267550.2(TTN):c.44184A>G (p.Ile14728Met)
|
rs572315033
|
0.00001
|
|
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val)
|
rs753632784
|
0.00001
|
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
|
NM_001267550.2(TTN):c.44792C>T (p.Thr14931Ile)
|
rs1292868903
|
0.00001
|
|
NM_001267550.2(TTN):c.45245G>A (p.Gly15082Glu)
|
rs1400844297
|
0.00001
|
|
NM_001267550.2(TTN):c.45311T>C (p.Leu15104Pro)
|
rs778421383
|
0.00001
|
|
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr)
|
rs759247684
|
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.45653G>A (p.Arg15218Gln)
|
rs548035065
|
0.00001
|
|
NM_001267550.2(TTN):c.46276A>T (p.Asn15426Tyr)
|
rs763751237
|
0.00001
|
|
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)
|
rs537428006
|
0.00001
|
|
NM_001267550.2(TTN):c.46549A>G (p.Met15517Val)
|
rs751464964
|
0.00001
|
|
NM_001267550.2(TTN):c.46561C>A (p.Gln15521Lys)
|
rs758692633
|
0.00001
|
|
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser)
|
rs561728671
|
0.00001
|
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
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.47507A>G (p.Gln15836Arg)
|
rs1309017744
|
0.00001
|
|
NM_001267550.2(TTN):c.47684T>C (p.Ile15895Thr)
|
rs768530598
|
0.00001
|
|
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu)
|
rs764059405
|
0.00001
|
|
NM_001267550.2(TTN):c.47836T>C (p.Ser15946Pro)
|
rs369663023
|
0.00001
|
|
NM_001267550.2(TTN):c.47872T>C (p.Phe15958Leu)
|
rs769332431
|
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.4843C>T (p.Leu1615Phe)
|
rs777977684
|
0.00001
|
|
NM_001267550.2(TTN):c.48808G>A (p.Val16270Ile)
|
rs533178407
|
0.00001
|
|
NM_001267550.2(TTN):c.48809T>C (p.Val16270Ala)
|
rs2056979046
|
0.00001
|
|
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile)
|
rs754110019
|
0.00001
|
|
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu)
|
rs776274777
|
0.00001
|
|
NM_001267550.2(TTN):c.49042G>A (p.Val16348Ile)
|
rs562289342
|
0.00001
|
|
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser)
|
rs879180534
|
0.00001
|
|
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)
|
rs749438439
|
0.00001
|
|
NM_001267550.2(TTN):c.49834C>T (p.Leu16612Phe)
|
rs750840061
|
0.00001
|
|
NM_001267550.2(TTN):c.50117A>G (p.Lys16706Arg)
|
rs879111780
|
0.00001
|
|
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)
|
rs374138859
|
0.00001
|
|
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)
|
rs950940404
|
0.00001
|
|
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)
|
rs794729239
|
0.00001
|
|
NM_001267550.2(TTN):c.50417G>A (p.Gly16806Glu)
|
rs565897140
|
0.00001
|
|
NM_001267550.2(TTN):c.50470T>C (p.Phe16824Leu)
|
rs1460335685
|
0.00001
|
|
NM_001267550.2(TTN):c.50513G>C (p.Ser16838Thr)
|
rs755391418
|
0.00001
|
|
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro)
|
rs727503619
|
0.00001
|
|
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn)
|
rs755153359
|
0.00001
|
|
NM_001267550.2(TTN):c.51121A>G (p.Asn17041Asp)
|
rs751639212
|
0.00001
|
|
NM_001267550.2(TTN):c.51304A>G (p.Asn17102Asp)
|
rs1184311554
|
0.00001
|
|
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)
|
rs768961892
|
0.00001
|
|
NM_001267550.2(TTN):c.51530G>A (p.Ser17177Asn)
|
rs745512911
|
0.00001
|
|
NM_001267550.2(TTN):c.51587G>T (p.Arg17196Ile)
|
rs751398376
|
0.00001
|
|
NM_001267550.2(TTN):c.51617C>A (p.Thr17206Asn)
|
rs1305177155
|
0.00001
|
|
NM_001267550.2(TTN):c.51703C>T (p.Arg17235Trp)
|
rs373860372
|
0.00001
|
|
NM_001267550.2(TTN):c.51707C>T (p.Ala17236Val)
|
rs1041202552
|
0.00001
|
|
NM_001267550.2(TTN):c.52042A>G (p.Met17348Val)
|
rs780570190
|
0.00001
|
|
NM_001267550.2(TTN):c.5206G>A (p.Val1736Met)
|
rs2092259333
|
0.00001
|
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
|
NM_001267550.2(TTN):c.52202T>C (p.Ile17401Thr)
|
rs1410389607
|
0.00001
|
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
|
NM_001267550.2(TTN):c.52273C>A (p.Leu17425Ile)
|
rs764049705
|
0.00001
|
|
NM_001267550.2(TTN):c.52307T>C (p.Ile17436Thr)
|
rs774439701
|
0.00001
|
|
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu)
|
rs1356720044
|
0.00001
|
|
NM_001267550.2(TTN):c.52349G>A (p.Arg17450Lys)
|
rs778572247
|
0.00001
|
|
NM_001267550.2(TTN):c.52397A>G (p.Asp17466Gly)
|
rs377156953
|
0.00001
|
|
NM_001267550.2(TTN):c.52592T>C (p.Val17531Ala)
|
rs764524150
|
0.00001
|
|
NM_001267550.2(TTN):c.52802T>C (p.Ile17601Thr)
|
rs774032287
|
0.00001
|
|
NM_001267550.2(TTN):c.5289T>G (p.Asp1763Glu)
|
rs1325498080
|
0.00001
|
|
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)
|
rs766817830
|
0.00001
|
|
NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr)
|
rs370929667
|
0.00001
|
|
NM_001267550.2(TTN):c.53570T>C (p.Val17857Ala)
|
rs1352428551
|
0.00001
|
|
NM_001267550.2(TTN):c.53596C>A (p.Pro17866Thr)
|
rs897867061
|
0.00001
|
|
NM_001267550.2(TTN):c.53608A>G (p.Thr17870Ala)
|
rs758041223
|
0.00001
|
|
NM_001267550.2(TTN):c.53644G>A (p.Asp17882Asn)
|
rs2470201004
|
0.00001
|
|
NM_001267550.2(TTN):c.53690A>G (p.Tyr17897Cys)
|
rs937899757
|
0.00001
|
|
NM_001267550.2(TTN):c.53882-5T>G
|
rs1369648014
|
0.00001
|
|
NM_001267550.2(TTN):c.53956A>G (p.Ile17986Val)
|
rs1293207173
|
0.00001
|
|
NM_001267550.2(TTN):c.54031A>G (p.Thr18011Ala)
|
rs766446275
|
0.00001
|
|
NM_001267550.2(TTN):c.5418G>T (p.Leu1806Phe)
|
rs397517650
|
0.00001
|
|
NM_001267550.2(TTN):c.54364G>A (p.Val18122Ile)
|
rs563319285
|
0.00001
|
|
NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn)
|
rs779495049
|
0.00001
|
|
NM_001267550.2(TTN):c.54610G>C (p.Glu18204Gln)
|
rs749849370
|
0.00001
|
|
NM_001267550.2(TTN):c.54653G>A (p.Arg18218Gln)
|
rs143643360
|
0.00001
|
|
NM_001267550.2(TTN):c.54704G>A (p.Arg18235His)
|
rs750125113
|
0.00001
|
|
NM_001267550.2(TTN):c.54854C>T (p.Thr18285Met)
|
rs761825854
|
0.00001
|
|
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser)
|
rs1162176452
|
0.00001
|
|
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)
|
rs764568599
|
0.00001
|
|
NM_001267550.2(TTN):c.55214G>A (p.Arg18405His)
|
rs771921519
|
0.00001
|
|
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys)
|
rs756341923
|
0.00001
|
|
NM_001267550.2(TTN):c.55384A>C (p.Lys18462Gln)
|
rs747050691
|
0.00001
|
|
NM_001267550.2(TTN):c.553G>T (p.Ala185Ser)
|
rs2094001955
|
0.00001
|
|
NM_001267550.2(TTN):c.55513G>A (p.Asp18505Asn)
|
rs563090275
|
0.00001
|
|
NM_001267550.2(TTN):c.55541A>G (p.Tyr18514Cys)
|
rs764002054
|
0.00001
|
|
NM_001267550.2(TTN):c.55672C>T (p.Arg18558Cys)
|
rs774262905
|
0.00001
|
|
NM_001267550.2(TTN):c.56176C>G (p.Pro18726Ala)
|
rs747026598
|
0.00001
|
|
NM_001267550.2(TTN):c.56233G>A (p.Asp18745Asn)
|
rs1376102250
|
0.00001
|
|
NM_001267550.2(TTN):c.56376A>G (p.Ile18792Met)
|
rs794729241
|
0.00001
|
|
NM_001267550.2(TTN):c.56692C>T (p.Arg18898Cys)
|
rs893885472
|
0.00001
|
|
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu)
|
rs1296926879
|
0.00001
|
|
NM_001267550.2(TTN):c.56948C>T (p.Ala18983Val)
|
rs774502532
|
0.00001
|
|
NM_001267550.2(TTN):c.5702A>G (p.Asp1901Gly)
|
rs1414147349
|
0.00001
|
|
NM_001267550.2(TTN):c.57165A>T (p.Glu19055Asp)
|
rs1263660973
|
0.00001
|
|
NM_001267550.2(TTN):c.57325G>A (p.Val19109Met)
|
rs945083650
|
0.00001
|
|
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn)
|
rs1009412718
|
0.00001
|
|
NM_001267550.2(TTN):c.57776C>T (p.Ala19259Val)
|
rs868535712
|
0.00001
|
|
NM_001267550.2(TTN):c.57796A>G (p.Met19266Val)
|
rs372963343
|
0.00001
|
|
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val)
|
rs56025724
|
0.00001
|
|
NM_001267550.2(TTN):c.57844A>G (p.Ile19282Val)
|
rs779849364
|
0.00001
|
|
NM_001267550.2(TTN):c.57850G>A (p.Val19284Ile)
|
rs377270926
|
0.00001
|
|
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp)
|
rs1203435642
|
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.5867A>G (p.Lys1956Arg)
|
rs1554006239
|
0.00001
|
|
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)
|
rs771977738
|
0.00001
|
|
NM_001267550.2(TTN):c.59225A>G (p.Tyr19742Cys)
|
rs1559607092
|
0.00001
|
|
NM_001267550.2(TTN):c.59294A>T (p.Glu19765Val)
|
rs766141647
|
0.00001
|
|
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)
|
rs771610118
|
0.00001
|
|
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)
|
rs564432498
|
0.00001
|
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
|
NM_001267550.2(TTN):c.60254T>C (p.Ile20085Thr)
|
rs763870161
|
0.00001
|
|
NM_001267550.2(TTN):c.6043G>A (p.Ala2015Thr)
|
rs776534823
|
0.00001
|
|
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)
|
rs771358314
|
0.00001
|
|
NM_001267550.2(TTN):c.60673G>A (p.Gly20225Arg)
|
rs771598189
|
0.00001
|
|
NM_001267550.2(TTN):c.60800A>G (p.His20267Arg)
|
rs2050075865
|
0.00001
|
|
NM_001267550.2(TTN):c.60812C>G (p.Pro20271Arg)
|
rs367633145
|
0.00001
|
|
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn)
|
rs375946418
|
0.00001
|
|
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)
|
rs756873840
|
0.00001
|
|
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys)
|
rs371014957
|
0.00001
|
|
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu)
|
rs759437501
|
0.00001
|
|
NM_001267550.2(TTN):c.62107T>C (p.Tyr20703His)
|
rs774199758
|
0.00001
|
|
NM_001267550.2(TTN):c.62392T>C (p.Phe20798Leu)
|
rs2469388014
|
0.00001
|
|
NM_001267550.2(TTN):c.62467C>T (p.Arg20823Cys)
|
rs779686013
|
0.00001
|
|
NM_001267550.2(TTN):c.62630C>G (p.Ser20877Cys)
|
rs1406472135
|
0.00001
|
|
NM_001267550.2(TTN):c.62825A>G (p.Asn20942Ser)
|
rs769163040
|
0.00001
|
|
NM_001267550.2(TTN):c.6307G>A (p.Gly2103Arg)
|
rs2092130428
|
0.00001
|
|
NM_001267550.2(TTN):c.63161G>A (p.Arg21054Lys)
|
rs1164637816
|
0.00001
|
|
NM_001267550.2(TTN):c.63187+3A>C
|
rs948908180
|
0.00001
|
|
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile)
|
rs972090108
|
0.00001
|
|
NM_001267550.2(TTN):c.63559A>G (p.Arg21187Gly)
|
rs368288863
|
0.00001
|
|
NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp)
|
rs116158152
|
0.00001
|
|
NM_001267550.2(TTN):c.6380A>G (p.Tyr2127Cys)
|
rs397517688
|
0.00001
|
|
NM_001267550.2(TTN):c.63834C>T (p.Val21278=)
|
rs911870330
|
0.00001
|
|
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu)
|
rs776468606
|
0.00001
|
|
NM_001267550.2(TTN):c.63992T>C (p.Val21331Ala)
|
rs756494781
|
0.00001
|
|
NM_001267550.2(TTN):c.64088C>G (p.Pro21363Arg)
|
rs781561933
|
0.00001
|
|
NM_001267550.2(TTN):c.64100C>T (p.Pro21367Leu)
|
rs754581725
|
0.00001
|
|
NM_001267550.2(TTN):c.64253A>C (p.Tyr21418Ser)
|
rs573165930
|
0.00001
|
|
NM_001267550.2(TTN):c.6425C>G (p.Thr2142Ser)
|
rs2532815671
|
0.00001
|
|
NM_001267550.2(TTN):c.6439G>A (p.Ala2147Thr)
|
rs528516043
|
0.00001
|
|
NM_001267550.2(TTN):c.64432A>G (p.Ile21478Val)
|
rs2469180063
|
0.00001
|
|
NM_001267550.2(TTN):c.64456A>T (p.Ile21486Phe)
|
rs779988742
|
0.00001
|
|
NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr)
|
rs749070255
|
0.00001
|
|
NM_001267550.2(TTN):c.6466A>G (p.Ile2156Val)
|
rs751393901
|
0.00001
|
|
NM_001267550.2(TTN):c.64912A>G (p.Asn21638Asp)
|
rs757843701
|
0.00001
|
|
NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser)
|
rs1553632774
|
0.00001
|
|
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)
|
rs376921740
|
0.00001
|
|
NM_001267550.2(TTN):c.64997C>T (p.Ala21666Val)
|
rs1396380194
|
0.00001
|
|
NM_001267550.2(TTN):c.65042A>T (p.Asp21681Val)
|
rs192371243
|
0.00001
|
|
NM_001267550.2(TTN):c.6526T>C (p.Phe2176Leu)
|
rs1423674252
|
0.00001
|
|
NM_001267550.2(TTN):c.65294A>C (p.Glu21765Ala)
|
rs1430045391
|
0.00001
|
|
NM_001267550.2(TTN):c.65417G>A (p.Arg21806Gln)
|
rs771120053
|
0.00001
|
|
NM_001267550.2(TTN):c.65500G>A (p.Ala21834Thr)
|
rs374874879
|
0.00001
|
|
NM_001267550.2(TTN):c.65611T>A (p.Ser21871Thr)
|
rs776842227
|
0.00001
|
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
|
NM_001267550.2(TTN):c.6571A>G (p.Met2191Val)
|
rs760003993
|
0.00001
|
|
NM_001267550.2(TTN):c.65790C>A (p.Asp21930Glu)
|
rs794727432
|
0.00001
|
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
|
NM_001267550.2(TTN):c.66179A>G (p.Asp22060Gly)
|
rs777203619
|
0.00001
|
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
|
NM_001267550.2(TTN):c.662T>C (p.Ile221Thr)
|
rs781543487
|
0.00001
|
|
NM_001267550.2(TTN):c.66353C>T (p.Thr22118Ile)
|
rs751985481
|
0.00001
|
|
NM_001267550.2(TTN):c.66373G>A (p.Glu22125Lys)
|
rs752675920
|
0.00001
|
|
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)
|
rs1559507734
|
0.00001
|
|
NM_001267550.2(TTN):c.66577G>A (p.Val22193Ile)
|
rs760767895
|
0.00001
|
|
NM_001267550.2(TTN):c.66750C>G (p.His22250Gln)
|
rs928913814
|
0.00001
|
|
NM_001267550.2(TTN):c.66833C>T (p.Thr22278Ile)
|
rs1449367862
|
0.00001
|
|
NM_001267550.2(TTN):c.6683T>C (p.Val2228Ala)
|
rs752706070
|
0.00001
|
|
NM_001267550.2(TTN):c.6700C>A (p.Leu2234Met)
|
rs766750289
|
0.00001
|
|
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu)
|
rs764048936
|
0.00001
|
|
NM_001267550.2(TTN):c.67056T>C (p.Leu22352=)
|
rs747715690
|
0.00001
|
|
NM_001267550.2(TTN):c.67130C>T (p.Pro22377Leu)
|
rs771093991
|
0.00001
|
|
NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser)
|
rs781562260
|
0.00001
|
|
NM_001267550.2(TTN):c.67189G>A (p.Glu22397Lys)
|
rs1163846592
|
0.00001
|
|
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln)
|
rs770566210
|
0.00001
|
|
NM_001267550.2(TTN):c.67327C>T (p.Arg22443Cys)
|
rs1304938868
|
0.00001
|
|
NM_001267550.2(TTN):c.67357G>A (p.Gly22453Arg)
|
rs373706642
|
0.00001
|
|
NM_001267550.2(TTN):c.67451T>C (p.Ile22484Thr)
|
rs903308296
|
0.00001
|
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
|
NM_001267550.2(TTN):c.68198A>C (p.Glu22733Ala)
|
rs754767867
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+3A>G
|
rs1006017098
|
0.00001
|
|
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala)
|
rs143679901
|
0.00001
|
|
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser)
|
rs754307416
|
0.00001
|
|
NM_001267550.2(TTN):c.68699C>A (p.Ala22900Asp)
|
rs780862555
|
0.00001
|
|
NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro)
|
rs771761816
|
0.00001
|
|
NM_001267550.2(TTN):c.691G>A (p.Ala231Thr)
|
rs752452129
|
0.00001
|
|
NM_001267550.2(TTN):c.69216T>G (p.Ile23072Met)
|
rs374117511
|
0.00001
|
|
NM_001267550.2(TTN):c.69287C>T (p.Ser23096Phe)
|
rs775422985
|
0.00001
|
|
NM_001267550.2(TTN):c.69337C>T (p.Arg23113Trp)
|
rs749409444
|
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.69650A>C (p.Glu23217Ala)
|
rs72646884
|
0.00001
|
|
NM_001267550.2(TTN):c.69808C>T (p.Leu23270Phe)
|
rs904477168
|
0.00001
|
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
|
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly)
|
rs1194442496
|
0.00001
|
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
|
NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)
|
rs767075037
|
0.00001
|
|
NM_001267550.2(TTN):c.70244T>C (p.Met23415Thr)
|
rs765861604
|
0.00001
|
|
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg)
|
rs775589244
|
0.00001
|
|
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro)
|
rs886055249
|
0.00001
|
|
NM_001267550.2(TTN):c.70964T>C (p.Ile23655Thr)
|
rs794729488
|
0.00001
|
|
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu)
|
rs1060500459
|
0.00001
|
|
NM_001267550.2(TTN):c.70987C>G (p.Pro23663Ala)
|
rs1709593893
|
0.00001
|
|
NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr)
|
rs752317656
|
0.00001
|
|
NM_001267550.2(TTN):c.71215G>T (p.Val23739Phe)
|
rs374485278
|
0.00001
|
|
NM_001267550.2(TTN):c.7124T>C (p.Leu2375Pro)
|
rs954220478
|
0.00001
|
|
NM_001267550.2(TTN):c.71326G>A (p.Glu23776Lys)
|
rs746336948
|
0.00001
|
|
NM_001267550.2(TTN):c.71348G>A (p.Arg23783His)
|
rs145504744
|
0.00001
|
|
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)
|
rs775743818
|
0.00001
|
|
NM_001267550.2(TTN):c.71603G>A (p.Arg23868Gln)
|
rs763316990
|
0.00001
|
|
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)
|
rs756824434
|
0.00001
|
|
NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)
|
rs748735241
|
0.00001
|
|
NM_001267550.2(TTN):c.71698C>T (p.Arg23900Trp)
|
rs755894115
|
0.00001
|
|
NM_001267550.2(TTN):c.71717T>C (p.Met23906Thr)
|
rs2468628519
|
0.00001
|
|
NM_001267550.2(TTN):c.71747C>T (p.Ser23916Leu)
|
rs1283305854
|
0.00001
|
|
NM_001267550.2(TTN):c.71882T>C (p.Val23961Ala)
|
rs886042407
|
0.00001
|
|
NM_001267550.2(TTN):c.72039G>C (p.Glu24013Asp)
|
rs529670209
|
0.00001
|
|
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)
|
rs777244038
|
0.00001
|
|
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys)
|
rs778284888
|
0.00001
|
|
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly)
|
rs773021696
|
0.00001
|
|
NM_001267550.2(TTN):c.72613G>C (p.Val24205Leu)
|
rs1322881049
|
0.00001
|
|
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu)
|
rs786205303
|
0.00001
|
|
NM_001267550.2(TTN):c.72740A>G (p.Asp24247Gly)
|
rs1408225629
|
0.00001
|
|
NM_001267550.2(TTN):c.72991C>T (p.Arg24331Cys)
|
rs376591763
|
0.00001
|
|
NM_001267550.2(TTN):c.7315C>T (p.Arg2439Cys)
|
rs747598377
|
0.00001
|
|
NM_001267550.2(TTN):c.73291G>A (p.Asp24431Asn)
|
rs757317072
|
0.00001
|
|
NM_001267550.2(TTN):c.73676G>A (p.Arg24559Gln)
|
rs780238881
|
0.00001
|
|
NM_001267550.2(TTN):c.74047G>A (p.Glu24683Lys)
|
rs755064877
|
0.00001
|
|
NM_001267550.2(TTN):c.74062C>T (p.Arg24688Cys)
|
rs771595253
|
0.00001
|
|
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)
|
rs776673912
|
0.00001
|
|
NM_001267550.2(TTN):c.74437A>C (p.Thr24813Pro)
|
rs750126076
|
0.00001
|
|
NM_001267550.2(TTN):c.74533A>C (p.Ile24845Leu)
|
rs1214451388
|
0.00001
|
|
NM_001267550.2(TTN):c.74581G>C (p.Ala24861Pro)
|
rs879142245
|
0.00001
|
|
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys)
|
rs200131545
|
0.00001
|
|
NM_001267550.2(TTN):c.74762C>T (p.Ser24921Phe)
|
rs1373803284
|
0.00001
|
|
NM_001267550.2(TTN):c.7483G>A (p.Val2495Met)
|
rs777701974
|
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.75155G>A (p.Arg25052His)
|
rs542720402
|
0.00001
|
|
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser)
|
rs748412838
|
0.00001
|
|
NM_001267550.2(TTN):c.75190A>G (p.Thr25064Ala)
|
rs893428451
|
0.00001
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
0.00001
|
|
NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)
|
rs1707914737
|
0.00001
|
|
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met)
|
rs376821762
|
0.00001
|
|
NM_001267550.2(TTN):c.75497C>T (p.Ala25166Val)
|
rs753641145
|
0.00001
|
|
NM_001267550.2(TTN):c.75961A>G (p.Met25321Val)
|
rs769235958
|
0.00001
|
|
NM_001267550.2(TTN):c.76001_76003del (p.Ser25334_Glu25335delinsLys)
|
rs746060399
|
0.00001
|
|
NM_001267550.2(TTN):c.76109T>C (p.Ile25370Thr)
|
rs764131874
|
0.00001
|
|
NM_001267550.2(TTN):c.76141G>A (p.Ala25381Thr)
|
rs763636099
|
0.00001
|
|
NM_001267550.2(TTN):c.76168C>T (p.Pro25390Ser)
|
rs878948198
|
0.00001
|
|
NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp)
|
rs748296171
|
0.00001
|
|
NM_001267550.2(TTN):c.76493C>T (p.Pro25498Leu)
|
rs374426354
|
0.00001
|
|
NM_001267550.2(TTN):c.76577G>A (p.Gly25526Asp)
|
rs369344156
|
0.00001
|
|
NM_001267550.2(TTN):c.76770G>C (p.Lys25590Asn)
|
rs1707266415
|
0.00001
|
|
NM_001267550.2(TTN):c.76837A>G (p.Ile25613Val)
|
rs1707239042
|
0.00001
|
|
NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val)
|
rs760386525
|
0.00001
|
|
NM_001267550.2(TTN):c.76895A>C (p.Lys25632Thr)
|
rs984799615
|
0.00001
|
|
NM_001267550.2(TTN):c.76966C>T (p.His25656Tyr)
|
rs781451643
|
0.00001
|
|
NM_001267550.2(TTN):c.76994T>G (p.Leu25665Arg)
|
rs188012906
|
0.00001
|
|
NM_001267550.2(TTN):c.77527A>G (p.Arg25843Gly)
|
rs773999364
|
0.00001
|
|
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile)
|
rs1332594097
|
0.00001
|
|
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)
|
rs1178033234
|
0.00001
|
|
NM_001267550.2(TTN):c.78041C>T (p.Pro26014Leu)
|
rs766846103
|
0.00001
|
|
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)
|
rs935809232
|
0.00001
|
|
NM_001267550.2(TTN):c.78214G>T (p.Gly26072Cys)
|
rs762807103
|
0.00001
|
|
NM_001267550.2(TTN):c.78248A>G (p.Tyr26083Cys)
|
rs910116004
|
0.00001
|
|
NM_001267550.2(TTN):c.78350G>C (p.Gly26117Ala)
|
rs1307239862
|
0.00001
|
|
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His)
|
rs377668457
|
0.00001
|
|
NM_001267550.2(TTN):c.78473G>C (p.Arg26158Thr)
|
rs1248526272
|
0.00001
|
|
NM_001267550.2(TTN):c.78494C>T (p.Ala26165Val)
|
rs2154166413
|
0.00001
|
|
NM_001267550.2(TTN):c.78538G>A (p.Gly26180Arg)
|
rs774781891
|
0.00001
|
|
NM_001267550.2(TTN):c.78563T>C (p.Val26188Ala)
|
rs149994923
|
0.00001
|
|
NM_001267550.2(TTN):c.78586G>C (p.Asp26196His)
|
rs777065318
|
0.00001
|
|
NM_001267550.2(TTN):c.78667C>T (p.Pro26223Ser)
|
rs777105534
|
0.00001
|
|
NM_001267550.2(TTN):c.78769A>G (p.Ile26257Val)
|
rs537603440
|
0.00001
|
|
NM_001267550.2(TTN):c.79052T>C (p.Leu26351Pro)
|
rs756625791
|
0.00001
|
|
NM_001267550.2(TTN):c.79079G>A (p.Arg26360His)
|
rs761481924
|
0.00001
|
|
NM_001267550.2(TTN):c.79594G>A (p.Glu26532Lys)
|
rs964829504
|
0.00001
|
|
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln)
|
rs771534555
|
0.00001
|
|
NM_001267550.2(TTN):c.79768C>T (p.Pro26590Ser)
|
rs767838835
|
0.00001
|
|
NM_001267550.2(TTN):c.79807G>T (p.Val26603Phe)
|
rs914913478
|
0.00001
|
|
NM_001267550.2(TTN):c.79855C>T (p.Arg26619Cys)
|
rs757229467
|
0.00001
|
|
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln)
|
rs727504673
|
0.00001
|
|
NM_001267550.2(TTN):c.80143G>T (p.Val26715Phe)
|
rs1705694653
|
0.00001
|
|
NM_001267550.2(TTN):c.80167C>T (p.Arg26723Cys)
|
rs1412497882
|
0.00001
|
|
NM_001267550.2(TTN):c.80429G>A (p.Ser26810Asn)
|
rs771880739
|
0.00001
|
|
NM_001267550.2(TTN):c.80536G>A (p.Gly26846Arg)
|
rs767520023
|
0.00001
|
|
NM_001267550.2(TTN):c.80587G>A (p.Asp26863Asn)
|
rs776528193
|
0.00001
|
|
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met)
|
rs773395582
|
0.00001
|
|
NM_001267550.2(TTN):c.80776G>C (p.Val26926Leu)
|
rs769499232
|
0.00001
|
|
NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser)
|
rs780082683
|
0.00001
|
|
NM_001267550.2(TTN):c.80927C>T (p.Pro26976Leu)
|
rs759657244
|
0.00001
|
|
NM_001267550.2(TTN):c.81033G>T (p.Glu27011Asp)
|
rs765653425
|
0.00001
|
|
NM_001267550.2(TTN):c.81220G>A (p.Gly27074Arg)
|
rs769814202
|
0.00001
|
|
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)
|
rs727504678
|
0.00001
|
|
NM_001267550.2(TTN):c.81777T>C (p.Asp27259=)
|
rs1438778988
|
0.00001
|
|
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr)
|
rs368527797
|
0.00001
|
|
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg)
|
rs778983249
|
0.00001
|
|
NM_001267550.2(TTN):c.82337C>T (p.Ala27446Val)
|
rs780558473
|
0.00001
|
|
NM_001267550.2(TTN):c.82404G>T (p.Lys27468Asn)
|
rs370365162
|
0.00001
|
|
NM_001267550.2(TTN):c.8261C>G (p.Ala2754Gly)
|
rs770875496
|
0.00001
|
|
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys)
|
rs72648214
|
0.00001
|
|
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met)
|
rs748535477
|
0.00001
|
|
NM_001267550.2(TTN):c.82825G>C (p.Val27609Leu)
|
rs767367789
|
0.00001
|
|
NM_001267550.2(TTN):c.82859G>T (p.Cys27620Phe)
|
rs762472521
|
0.00001
|
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
|
NM_001267550.2(TTN):c.83371C>T (p.Leu27791Phe)
|
rs755033702
|
0.00001
|
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
|
NM_001267550.2(TTN):c.83531A>G (p.Asn27844Ser)
|
rs754569815
|
0.00001
|
|
NM_001267550.2(TTN):c.83564C>T (p.Thr27855Ile)
|
rs1268315067
|
0.00001
|
|
NM_001267550.2(TTN):c.83644A>G (p.Ile27882Val)
|
rs548211686
|
0.00001
|
|
NM_001267550.2(TTN):c.83702A>G (p.Glu27901Gly)
|
rs1213668356
|
0.00001
|
|
NM_001267550.2(TTN):c.83719A>C (p.Ser27907Arg)
|
rs1306149709
|
0.00001
|
|
NM_001267550.2(TTN):c.83812G>A (p.Ala27938Thr)
|
rs1405100475
|
0.00001
|
|
NM_001267550.2(TTN):c.83813C>A (p.Ala27938Glu)
|
rs1369391499
|
0.00001
|
|
NM_001267550.2(TTN):c.83857C>T (p.Pro27953Ser)
|
rs770320215
|
0.00001
|
|
NM_001267550.2(TTN):c.83936A>G (p.Gln27979Arg)
|
rs755935124
|
0.00001
|
|
NM_001267550.2(TTN):c.84160G>C (p.Asp28054His)
|
rs780958039
|
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.84406G>A (p.Gly28136Arg)
|
rs879234686
|
0.00001
|
|
NM_001267550.2(TTN):c.84413G>A (p.Ser28138Asn)
|
rs975160153
|
0.00001
|
|
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)
|
rs397517727
|
0.00001
|
|
NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val)
|
rs1553564661
|
0.00001
|
|
NM_001267550.2(TTN):c.84754C>A (p.Pro28252Thr)
|
rs780908799
|
0.00001
|
|
NM_001267550.2(TTN):c.84892C>T (p.Arg28298Trp)
|
rs779581886
|
0.00001
|
|
NM_001267550.2(TTN):c.85030G>A (p.Gly28344Arg)
|
rs757065143
|
0.00001
|
|
NM_001267550.2(TTN):c.85160C>T (p.Pro28387Leu)
|
rs1415760093
|
0.00001
|
|
NM_001267550.2(TTN):c.85195G>A (p.Glu28399Lys)
|
rs397517732
|
0.00001
|
|
NM_001267550.2(TTN):c.85286T>A (p.Val28429Glu)
|
rs747216991
|
0.00001
|
|
NM_001267550.2(TTN):c.8532A>C (p.Ser2844=)
|
rs957431303
|
0.00001
|
|
NM_001267550.2(TTN):c.85775A>G (p.Lys28592Arg)
|
rs2469653653
|
0.00001
|
|
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)
|
rs397517733
|
0.00001
|
|
NM_001267550.2(TTN):c.86012C>A (p.Ala28671Asp)
|
rs751444096
|
0.00001
|
|
NM_001267550.2(TTN):c.86485A>G (p.Asn28829Asp)
|
rs371485481
|
0.00001
|
|
NM_001267550.2(TTN):c.864C>T (p.His288=)
|
rs772543040
|
0.00001
|
|
NM_001267550.2(TTN):c.86515G>A (p.Val28839Ile)
|
rs1186404293
|
0.00001
|
|
NM_001267550.2(TTN):c.86653C>T (p.Arg28885Cys)
|
rs1702802682
|
0.00001
|
|
NM_001267550.2(TTN):c.86744A>G (p.Tyr28915Cys)
|
rs764006835
|
0.00001
|
|
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)
|
rs750591986
|
0.00001
|
|
NM_001267550.2(TTN):c.8713G>A (p.Val2905Met)
|
rs369380469
|
0.00001
|
|
NM_001267550.2(TTN):c.87161T>C (p.Val29054Ala)
|
rs771605613
|
0.00001
|
|
NM_001267550.2(TTN):c.87337G>C (p.Gly29113Arg)
|
rs373526664
|
0.00001
|
|
NM_001267550.2(TTN):c.87383C>T (p.Ala29128Val)
|
rs1211271683
|
0.00001
|
|
NM_001267550.2(TTN):c.87598A>G (p.Met29200Val)
|
rs1553554462
|
0.00001
|
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
|
NM_001267550.2(TTN):c.87761T>C (p.Ile29254Thr)
|
rs868383233
|
0.00001
|
|
NM_001267550.2(TTN):c.87985C>T (p.Pro29329Ser)
|
rs376054748
|
0.00001
|
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
|
NM_001267550.2(TTN):c.88328C>T (p.Pro29443Leu)
|
rs1464611812
|
0.00001
|
|
NM_001267550.2(TTN):c.88675G>C (p.Ala29559Pro)
|
rs748038054
|
0.00001
|
|
NM_001267550.2(TTN):c.88735G>A (p.Val29579Ile)
|
rs879204059
|
0.00001
|
|
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)
|
rs755212831
|
0.00001
|
|
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)
|
rs750981091
|
0.00001
|
|
NM_001267550.2(TTN):c.88973T>C (p.Ile29658Thr)
|
rs750026544
|
0.00001
|
|
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)
|
rs749433506
|
0.00001
|
|
NM_001267550.2(TTN):c.89065C>T (p.Arg29689Cys)
|
rs781635476
|
0.00001
|
|
NM_001267550.2(TTN):c.89149G>C (p.Gly29717Arg)
|
rs751391249
|
0.00001
|
|
NM_001267550.2(TTN):c.89201C>T (p.Pro29734Leu)
|
rs759858087
|
0.00001
|
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
|
NM_001267550.2(TTN):c.89290A>G (p.Ser29764Gly)
|
rs777230019
|
0.00001
|
|
NM_001267550.2(TTN):c.89590A>G (p.Lys29864Glu)
|
rs770839822
|
0.00001
|
|
NM_001267550.2(TTN):c.89667A>T (p.Glu29889Asp)
|
rs1293413587
|
0.00001
|
|
NM_001267550.2(TTN):c.89972C>T (p.Ser29991Phe)
|
rs879239139
|
0.00001
|
|
NM_001267550.2(TTN):c.89G>A (p.Ser30Asn)
|
rs767153909
|
0.00001
|
|
NM_001267550.2(TTN):c.90037A>G (p.Ile30013Val)
|
rs902222433
|
0.00001
|
|
NM_001267550.2(TTN):c.90122A>G (p.Asp30041Gly)
|
rs2469302883
|
0.00001
|
|
NM_001267550.2(TTN):c.90434T>C (p.Ile30145Thr)
|
rs751359750
|
0.00001
|
|
NM_001267550.2(TTN):c.90464A>G (p.Tyr30155Cys)
|
rs918516226
|
0.00001
|
|
NM_001267550.2(TTN):c.90590A>G (p.Glu30197Gly)
|
rs531923761
|
0.00001
|
|
NM_001267550.2(TTN):c.90603A>C (p.Lys30201Asn)
|
rs931505367
|
0.00001
|
|
NM_001267550.2(TTN):c.90604T>C (p.Tyr30202His)
|
rs1319107729
|
0.00001
|
|
NM_001267550.2(TTN):c.90895G>T (p.Val30299Leu)
|
rs774161568
|
0.00001
|
|
NM_001267550.2(TTN):c.91073G>A (p.Gly30358Glu)
|
rs72648243
|
0.00001
|
|
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)
|
rs376494747
|
0.00001
|
|
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp)
|
rs751610164
|
0.00001
|
|
NM_001267550.2(TTN):c.91364T>C (p.Val30455Ala)
|
rs1281249484
|
0.00001
|
|
NM_001267550.2(TTN):c.91565T>C (p.Val30522Ala)
|
rs772307507
|
0.00001
|
|
NM_001267550.2(TTN):c.9173T>C (p.Ile3058Thr)
|
rs373657576
|
0.00001
|
|
NM_001267550.2(TTN):c.91771C>T (p.Arg30591Trp)
|
rs760668673
|
0.00001
|
|
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr)
|
rs984360776
|
0.00001
|
|
NM_001267550.2(TTN):c.9181A>G (p.Arg3061Gly)
|
rs561375563
|
0.00001
|
|
NM_001267550.2(TTN):c.92071C>G (p.Gln30691Glu)
|
rs573510674
|
0.00001
|
|
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg)
|
rs1206527
|
0.00001
|
|
NM_001267550.2(TTN):c.92624C>G (p.Ala30875Gly)
|
rs1248087390
|
0.00001
|
|
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)
|
rs727505280
|
0.00001
|
|
NM_001267550.2(TTN):c.92702G>A (p.Gly30901Asp)
|
rs879214233
|
0.00001
|
|
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)
|
rs777150584
|
0.00001
|
|
NM_001267550.2(TTN):c.92880C>A (p.Ser30960Arg)
|
rs968631165
|
0.00001
|
|
NM_001267550.2(TTN):c.93011G>A (p.Ser31004Asn)
|
rs762024916
|
0.00001
|
|
NM_001267550.2(TTN):c.93038T>C (p.Val31013Ala)
|
rs775726229
|
0.00001
|
|
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)
|
rs1023137329
|
0.00001
|
|
NM_001267550.2(TTN):c.93322A>G (p.Ile31108Val)
|
rs727504787
|
0.00001
|
|
NM_001267550.2(TTN):c.93573T>A (p.Asp31191Glu)
|
rs965506398
|
0.00001
|
|
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)
|
rs765759269
|
0.00001
|
|
NM_001267550.2(TTN):c.93806A>T (p.Asp31269Val)
|
rs368404585
|
0.00001
|
|
NM_001267550.2(TTN):c.9401A>G (p.Asn3134Ser)
|
rs777759635
|
0.00001
|
|
NM_001267550.2(TTN):c.94033A>G (p.Ile31345Val)
|
rs756013336
|
0.00001
|
|
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu)
|
rs794729536
|
0.00001
|
|
NM_001267550.2(TTN):c.94094G>A (p.Arg31365His)
|
rs577262832
|
0.00001
|
|
NM_001267550.2(TTN):c.94138T>G (p.Ser31380Ala)
|
rs764500703
|
0.00001
|
|
NM_001267550.2(TTN):c.94202T>C (p.Ile31401Thr)
|
rs879001552
|
0.00001
|
|
NM_001267550.2(TTN):c.94333G>A (p.Val31445Ile)
|
rs564410456
|
0.00001
|
|
NM_001267550.2(TTN):c.94486G>A (p.Glu31496Lys)
|
rs769175534
|
0.00001
|
|
NM_001267550.2(TTN):c.9450A>T (p.Arg3150=)
|
rs558077210
|
0.00001
|
|
NM_001267550.2(TTN):c.94556C>A (p.Thr31519Lys)
|
rs554140295
|
0.00001
|
|
NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val)
|
rs771491701
|
0.00001
|
|
NM_001267550.2(TTN):c.94649A>G (p.Glu31550Gly)
|
rs1263522750
|
0.00001
|
|
NM_001267550.2(TTN):c.94932A>C (p.Glu31644Asp)
|
rs1281349835
|
0.00001
|
|
NM_001267550.2(TTN):c.95206G>A (p.Gly31736Arg)
|
rs771799061
|
0.00001
|
|
NM_001267550.2(TTN):c.95230A>G (p.Ile31744Val)
|
rs749403545
|
0.00001
|
|
NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly)
|
rs886042114
|
0.00001
|
|
NM_001267550.2(TTN):c.95251A>T (p.Ser31751Cys)
|
rs372132740
|
0.00001
|
|
NM_001267550.2(TTN):c.95348G>C (p.Arg31783Thr)
|
rs1696869417
|
0.00001
|
|
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)
|
rs774814532
|
0.00001
|
|
NM_001267550.2(TTN):c.95540G>A (p.Arg31847His)
|
rs771179752
|
0.00001
|
|
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg)
|
rs757129504
|
0.00001
|
|
NM_001267550.2(TTN):c.95618T>G (p.Leu31873Arg)
|
rs778060662
|
0.00001
|
|
NM_001267550.2(TTN):c.95705C>T (p.Ser31902Leu)
|
rs770705757
|
0.00001
|
|
NM_001267550.2(TTN):c.95772C>A (p.His31924Gln)
|
rs747894883
|
0.00001
|
|
NM_001267550.2(TTN):c.9578G>A (p.Arg3193Gln)
|
rs1034071730
|
0.00001
|
|
NM_001267550.2(TTN):c.95875G>C (p.Val31959Leu)
|
rs1372238245
|
0.00001
|
|
NM_001267550.2(TTN):c.95959G>T (p.Ala31987Ser)
|
rs2468964268
|
0.00001
|
|
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)
|
rs776682000
|
0.00001
|
|
NM_001267550.2(TTN):c.96017T>C (p.Val32006Ala)
|
rs966964393
|
0.00001
|
|
NM_001267550.2(TTN):c.9627G>C (p.Glu3209Asp)
|
rs1022645763
|
0.00001
|
|
NM_001267550.2(TTN):c.96356G>A (p.Arg32119Lys)
|
rs183151656
|
0.00001
|
|
NM_001267550.2(TTN):c.96574G>A (p.Glu32192Lys)
|
rs1286172719
|
0.00001
|
|
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)
|
rs770101398
|
0.00001
|
|
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)
|
rs755082341
|
0.00001
|
|
NM_001267550.2(TTN):c.96919G>A (p.Asp32307Asn)
|
rs1474585549
|
0.00001
|
|
NM_001267550.2(TTN):c.96965G>C (p.Arg32322Thr)
|
rs1187427678
|
0.00001
|
|
NM_001267550.2(TTN):c.97237G>A (p.Asp32413Asn)
|
rs1695055645
|
0.00001
|
|
NM_001267550.2(TTN):c.97373C>T (p.Thr32458Met)
|
rs749501290
|
0.00001
|
|
NM_001267550.2(TTN):c.97531G>A (p.Val32511Ile)
|
rs752264462
|
0.00001
|
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
|
NM_001267550.2(TTN):c.97679G>A (p.Arg32560His)
|
rs775600228
|
0.00001
|
|
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg)
|
rs373959972
|
0.00001
|
|
NM_001267550.2(TTN):c.9790G>A (p.Gly3264Arg)
|
rs370190599
|
0.00001
|
|
NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val)
|
rs747898161
|
0.00001
|
|
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)
|
rs201696360
|
0.00001
|
|
NM_001267550.2(TTN):c.98315C>T (p.Thr32772Ile)
|
rs1163729764
|
0.00001
|
|
NM_001267550.2(TTN):c.98380G>C (p.Gly32794Arg)
|
rs756971305
|
0.00001
|
|
NM_001267550.2(TTN):c.98427A>C (p.Gln32809His)
|
rs1271415335
|
0.00001
|
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
|
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)
|
rs760917372
|
0.00001
|
|
NM_001267550.2(TTN):c.98857A>G (p.Thr32953Ala)
|
rs1179770836
|
0.00001
|
|
NM_001267550.2(TTN):c.99079G>A (p.Gly33027Ser)
|
rs753657854
|
0.00001
|
|
NM_001267550.2(TTN):c.99110A>G (p.Tyr33037Cys)
|
rs1692914816
|
0.00001
|
|
NM_001267550.2(TTN):c.99289T>C (p.Ser33097Pro)
|
rs1205532462
|
0.00001
|
|
NM_001267550.2(TTN):c.99466C>T (p.His33156Tyr)
|
rs374666520
|
0.00001
|
|
NM_001267550.2(TTN):c.99554G>A (p.Ser33185Asn)
|
rs1377798768
|
0.00001
|
|
NM_001267550.2(TTN):c.99584A>G (p.Gln33195Arg)
|
rs1213641868
|
0.00001
|
|
NM_001267550.2(TTN):c.99662T>C (p.Ile33221Thr)
|
rs1306714947
|
0.00001
|
|
NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg)
|
rs72648279
|
0.00001
|
|
NM_001270.4(CHD1):c.362G>T (p.Gly121Val)
|
rs1410015318
|
0.00001
|
|
NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)
|
rs185870058
|
0.00001
|
|
NM_001270.4(CHD1):c.458G>A (p.Gly153Glu)
|
rs2479720439
|
0.00001
|
|
NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)
|
rs765994988
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
|
NM_001271.4(CHD2):c.185G>A (p.Ser62Asn)
|
rs886041165
|
0.00001
|
|
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
|
rs768407397
|
0.00001
|
|
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
|
rs909410576
|
0.00001
|
|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)
|
rs1222471099
|
0.00001
|
|
NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)
|
rs760280227
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3599G>A (p.Gly1200Asp)
|
rs369401044
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)
|
rs767867271
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5170G>A (p.Ala1724Thr)
|
rs575409028
|
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.10332+30G>A
|
rs931347272
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
|
rs748398869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)
|
rs144401534
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1996G>A (p.Ala666Thr)
|
rs1415369353
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)
|
rs376904276
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9791C>T (p.Pro3264Leu)
|
rs374439635
|
0.00001
|
|
NM_001277313.2(FMN1):c.2044-1954G>A
|
rs2037766512
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met)
|
rs782477425
|
0.00001
|
|
NM_001278669.2(NFATC1):c.1181A>G (p.Tyr394Cys)
|
rs1170407308
|
0.00001
|
|
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr)
|
rs376909719
|
0.00001
|
|
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)
|
rs749861265
|
0.00001
|
|
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys)
|
rs559915015
|
0.00001
|
|
NM_001282531.3(ADNP):c.3205A>G (p.Ile1069Val)
|
rs1355291048
|
0.00001
|
|
NM_001282531.3(ADNP):c.3206T>C (p.Ile1069Thr)
|
rs751149237
|
0.00001
|
|
NM_001282531.3(ADNP):c.907A>G (p.Met303Val)
|
rs1026060253
|
0.00001
|
|
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr)
|
rs148621466
|
0.00001
|
|
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn)
|
rs776356655
|
0.00001
|
|
NM_001287.6(CLCN7):c.2362G>A (p.Ala788Thr)
|
rs201361839
|
0.00001
|
|
NM_001287.6(CLCN7):c.376C>T (p.Arg126Cys)
|
rs1362834202
|
0.00001
|
|
NM_001287491.2(TET3):c.5320G>T (p.Asp1774Tyr)
|
rs745931163
|
0.00001
|
|
NM_001289808.2(CRYAB):c.270A>C (p.Lys90Asn)
|
rs1185490043
|
0.00001
|
|
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr)
|
rs577253222
|
0.00001
|
|
NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr)
|
rs371079119
|
0.00001
|
|
NM_001291303.3(FAT4):c.10743C>A (p.Asp3581Glu)
|
rs768808202
|
0.00001
|
|
NM_001291303.3(FAT4):c.10752G>A (p.Leu3584=)
|
rs1357511665
|
0.00001
|
|
NM_001291303.3(FAT4):c.3737A>G (p.His1246Arg)
|
rs374077786
|
0.00001
|
|
NM_001291303.3(FAT4):c.6424G>T (p.Val2142Phe)
|
rs753001660
|
0.00001
|
|
NM_001292034.3(TAB2):c.1025G>A (p.Arg342His)
|
rs750390016
|
0.00001
|
|
NM_001292034.3(TAB2):c.17A>G (p.His6Arg)
|
rs763061741
|
0.00001
|
|
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg)
|
rs368666159
|
0.00001
|
|
NM_001303052.2(MYT1L):c.1423G>A (p.Gly475Arg)
|
rs747816343
|
0.00001
|
|
NM_001303052.2(MYT1L):c.2622G>C (p.Glu874Asp)
|
rs762941347
|
0.00001
|
|
NM_001303052.2(MYT1L):c.926G>A (p.Gly309Glu)
|
rs866388756
|
0.00001
|
|
NM_001303143.2(HAUS3):c.1679T>C (p.Leu560Ser)
|
rs1734600108
|
0.00001
|
|
NM_001303256.3(MORC2):c.598A>G (p.Ile200Val)
|
rs765371898
|
0.00001
|
|
NM_001304561.2(BTNL2):c.709+6T>C
|
rs768077235
|
0.00001
|
|
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser)
|
rs779421943
|
0.00001
|
|
NM_001308093.3(GATA4):c.241G>A (p.Gly81Arg)
|
rs1466334264
|
0.00001
|
|
NM_001312909.2(FAM111A):c.1738T>C (p.Ser580Pro)
|
rs367613694
|
0.00001
|
|
NM_001317778.2(SFTPC):c.455C>T (p.Thr152Met)
|
rs1306348581
|
0.00001
|
|
NM_001318852.2(MAPK8IP3):c.1166C>T (p.Thr389Met)
|
rs775948713
|
0.00001
|
|
NM_001320714.2(DOP1B):c.1029A>G (p.Ile343Met)
|
rs756035522
|
0.00001
|
|
NM_001321075.3(DLG4):c.1462A>G (p.Ile488Val)
|
rs1325683864
|
0.00001
|
|
NM_001324144.2(ZNF41):c.38C>T (p.Ala13Val)
|
rs200972908
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
|
rs763633519
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.298G>A (p.Val100Met)
|
rs866469207
|
0.00001
|
|
NM_001330078.2(NRXN1):c.2536A>G (p.Asn846Asp)
|
rs1282460988
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3266A>G (p.Glu1089Gly)
|
rs746697390
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg)
|
rs1037521613
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
|
rs766163250
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu)
|
rs372096102
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3761A>G (p.Tyr1254Cys)
|
rs1199744177
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)
|
rs751979396
|
0.00001
|
|
NM_001330311.2(DVL1):c.347G>A (p.Arg116Gln)
|
rs1375565508
|
0.00001
|
|
NM_001330700.2(TOP2B):c.3950C>T (p.Thr1317Ile)
|
rs1329710272
|
0.00001
|
|
NM_001332.4(CTNND2):c.2464-1G>T
|
rs1365326984
|
0.00001
|
|
NM_001332.4(CTNND2):c.3271G>A (p.Glu1091Lys)
|
rs778985488
|
0.00001
|
|
NM_001332.4(CTNND2):c.658C>T (p.Pro220Ser)
|
rs1167635277
|
0.00001
|
|
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu)
|
rs372305836
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr)
|
rs746978297
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.208-28G>A
|
rs552103257
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
0.00001
|
|
NM_001348323.3(TRIP12):c.2009C>T (p.Thr670Ile)
|
rs2047157169
|
0.00001
|
|
NM_001348323.3(TRIP12):c.2096A>G (p.Asn699Ser)
|
rs762183066
|
0.00001
|
|
NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr)
|
rs1386605432
|
0.00001
|
|
NM_001348323.3(TRIP12):c.3207-7T>C
|
rs776422458
|
0.00001
|
|
NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser)
|
rs772882161
|
0.00001
|
|
NM_001348323.3(TRIP12):c.3782T>C (p.Leu1261Ser)
|
rs1417292516
|
0.00001
|
|
NM_001348323.3(TRIP12):c.964C>A (p.Pro322Thr)
|
rs138526427
|
0.00001
|
|
NM_001348716.2(KDM6B):c.1270C>T (p.His424Tyr)
|
rs368571593
|
0.00001
|
|
NM_001348716.2(KDM6B):c.259C>T (p.His87Tyr)
|
rs373942826
|
0.00001
|
|
NM_001348716.2(KDM6B):c.575G>A (p.Arg192Gln)
|
rs898090763
|
0.00001
|
|
NM_001348716.2(KDM6B):c.586C>G (p.Pro196Ala)
|
rs774127806
|
0.00001
|
|
NM_001348768.2(HECW2):c.1511C>A (p.Ser504Tyr)
|
rs1422220395
|
0.00001
|
|
NM_001348768.2(HECW2):c.1793C>T (p.Thr598Ile)
|
rs572495985
|
0.00001
|
|
NM_001348768.2(HECW2):c.2311A>G (p.Thr771Ala)
|
rs773862938
|
0.00001
|
|
NM_001348768.2(HECW2):c.983A>C (p.Glu328Ala)
|
rs1270505010
|
0.00001
|
|
NM_001349.4(DARS1):c.1288C>T (p.Gln430Ter)
|
rs1680894122
|
0.00001
|
|
NM_001349253.2(SCN11A):c.193C>T (p.Leu65Phe)
|
rs1035232025
|
0.00001
|
|
NM_001349253.2(SCN11A):c.2702C>A (p.Thr901Asn)
|
rs1333364240
|
0.00001
|
|
NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val)
|
rs778367426
|
0.00001
|
|
NM_001349253.2(SCN11A):c.3790T>C (p.Tyr1264His)
|
rs2065111859
|
0.00001
|
|
NM_001349253.2(SCN11A):c.743G>A (p.Arg248His)
|
rs777219461
|
0.00001
|
|
NM_001349338.3(FOXP1):c.1653-19_1653-2dup
|
rs763223371
|
0.00001
|
|
NM_001349338.3(FOXP1):c.1690G>A (p.Ala564Thr)
|
rs760742879
|
0.00001
|
|
NM_001349338.3(FOXP1):c.619A>G (p.Ile207Val)
|
rs771358062
|
0.00001
|
|
NM_001350162.2(TEX15):c.933C>G (p.Phe311Leu)
|
rs1243419917
|
0.00001
|
|
NM_001352027.3(PHF21A):c.1921G>T (p.Val641Leu)
|
rs145172014
|
0.00001
|
|
NM_001353345.2(SETD1B):c.4133C>T (p.Thr1378Met)
|
rs947659470
|
0.00001
|
|
NM_001353345.2(SETD1B):c.4465G>A (p.Val1489Ile)
|
rs1294166078
|
0.00001
|
|
NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys)
|
rs752819288
|
0.00001
|
|
NM_001353812.2(ATP11C):c.116G>A (p.Arg39Lys)
|
rs763234673
|
0.00001
|
|
NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)
|
rs776955107
|
0.00001
|
|
NM_001353812.2(ATP11C):c.1675C>G (p.Leu559Val)
|
rs148368628
|
0.00001
|
|
NM_001353812.2(ATP11C):c.2702C>T (p.Pro901Leu)
|
rs750121703
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)
|
rs1384182085
|
0.00001
|
|
NM_001355436.2(SPTB):c.1043G>A (p.Arg348His)
|
rs373606427
|
0.00001
|
|
NM_001355436.2(SPTB):c.1064+3A>T
|
rs745510975
|
0.00001
|
|
NM_001355436.2(SPTB):c.1109A>G (p.Gln370Arg)
|
rs781176597
|
0.00001
|
|
NM_001355436.2(SPTB):c.1246C>T (p.Arg416Trp)
|
rs756541394
|
0.00001
|
|
NM_001355436.2(SPTB):c.1277G>A (p.Arg426His)
|
rs977348778
|
0.00001
|
|
NM_001355436.2(SPTB):c.1294G>A (p.Ala432Thr)
|
rs1285270460
|
0.00001
|
|
NM_001355436.2(SPTB):c.1357G>T (p.Asp453Tyr)
|
rs568264177
|
0.00001
|
|
NM_001355436.2(SPTB):c.1378G>A (p.Ala460Thr)
|
rs377510670
|
0.00001
|
|
NM_001355436.2(SPTB):c.190G>A (p.Val64Met)
|
rs1428890712
|
0.00001
|
|
NM_001355436.2(SPTB):c.2176G>A (p.Asp726Asn)
|
rs1376630629
|
0.00001
|
|
NM_001355436.2(SPTB):c.259A>G (p.Met87Val)
|
rs757698672
|
0.00001
|
|
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser)
|
rs768317667
|
0.00001
|
|
NM_001355436.2(SPTB):c.320A>G (p.Lys107Arg)
|
rs376388962
|
0.00001
|
|
NM_001355436.2(SPTB):c.325C>T (p.Arg109Cys)
|
rs139094636
|
0.00001
|
|
NM_001355436.2(SPTB):c.3405G>C (p.Glu1135Asp)
|
rs748167525
|
0.00001
|
|
NM_001355436.2(SPTB):c.3478C>T (p.Arg1160Cys)
|
rs765222922
|
0.00001
|
|
NM_001355436.2(SPTB):c.44C>G (p.Pro15Arg)
|
rs1489551959
|
0.00001
|
|
NM_001355436.2(SPTB):c.4751A>G (p.Asn1584Ser)
|
rs1329787884
|
0.00001
|
|
NM_001355436.2(SPTB):c.4897G>A (p.Val1633Met)
|
rs1264943949
|
0.00001
|
|
NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn)
|
rs1004837830
|
0.00001
|
|
NM_001355436.2(SPTB):c.4946G>A (p.Gly1649Asp)
|
rs766992918
|
0.00001
|
|
NM_001355436.2(SPTB):c.4973G>A (p.Gly1658Glu)
|
rs567367723
|
0.00001
|
|
NM_001355436.2(SPTB):c.515C>T (p.Thr172Ile)
|
rs777269456
|
0.00001
|
|
NM_001355436.2(SPTB):c.5233G>C (p.Glu1745Gln)
|
rs929853070
|
0.00001
|
|
NM_001355436.2(SPTB):c.5771G>A (p.Arg1924Gln)
|
rs182057003
|
0.00001
|
|
NM_001355436.2(SPTB):c.6056C>T (p.Ser2019Phe)
|
rs775701663
|
0.00001
|
|
NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu)
|
rs754726157
|
0.00001
|
|
NM_001355436.2(SPTB):c.661G>A (p.Asp221Asn)
|
rs768355411
|
0.00001
|
|
NM_001355436.2(SPTB):c.913G>A (p.Glu305Lys)
|
rs766203211
|
0.00001
|
|
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)
|
rs752535289
|
0.00001
|
|
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)
|
rs751603831
|
0.00001
|
|
NM_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr)
|
rs1157838581
|
0.00001
|
|
NM_001358921.2(COQ2):c.762+1G>A
|
rs767624218
|
0.00001
|
|
NM_001361.5(DHODH):c.262C>T (p.Arg88Ter)
|
rs768945419
|
0.00001
|
|
NM_001361.5(DHODH):c.731G>A (p.Arg244Gln)
|
rs767012109
|
0.00001
|
|
NM_001363711.2(DUOX2):c.2110C>T (p.Arg704Cys)
|
rs759813792
|
0.00001
|
|
NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=)
|
rs1388868629
|
0.00001
|
|
NM_001364905.1(LRBA):c.4486G>A (p.Gly1496Ser)
|
rs765227496
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.1933A>G (p.Ile645Val)
|
rs572342330
|
0.00001
|
|
NM_001365276.2(TNXB):c.-8-2349G>A
|
rs929763615
|
0.00001
|
|
NM_001365276.2(TNXB):c.2409A>C (p.Ser803=)
|
rs779701423
|
0.00001
|
|
NM_001365276.2(TNXB):c.4413C>T (p.Ser1471=)
|
rs377135340
|
0.00001
|
|
NM_001365276.2(TNXB):c.5986A>G (p.Thr1996Ala)
|
rs1306716579
|
0.00001
|
|
NM_001365276.2(TNXB):c.6171C>T (p.Gly2057=)
|
rs750260341
|
0.00001
|
|
NM_001365276.2(TNXB):c.7093A>C (p.Asn2365His)
|
rs1195935577
|
0.00001
|
|
NM_001365308.1(BMPER):c.832T>G (p.Cys278Gly)
|
rs760045733
|
0.00001
|
|
NM_001365308.1(BMPER):c.927+6T>A
|
rs1373263188
|
0.00001
|
|
NM_001365536.1(SCN9A):c.1028G>A (p.Ser343Asn)
|
rs550153663
|
0.00001
|
|
NM_001365536.1(SCN9A):c.2767G>A (p.Val923Met)
|
rs746356598
|
0.00001
|
|
NM_001365536.1(SCN9A):c.3868C>T (p.Arg1290Trp)
|
rs763423536
|
0.00001
|
|
NM_001365536.1(SCN9A):c.4105G>A (p.Glu1369Lys)
|
rs1298235055
|
0.00001
|
|
NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln)
|
rs756329038
|
0.00001
|
|
NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys)
|
rs1650297228
|
0.00001
|
|
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)
|
rs1194469975
|
0.00001
|
|
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln)
|
rs376807805
|
0.00001
|
|
NM_001365999.1(SZT2):c.4136G>A (p.Arg1379Gln)
|
rs755722250
|
0.00001
|
|
NM_001365999.1(SZT2):c.4262G>T (p.Cys1421Phe)
|
rs1203698640
|
0.00001
|
|
NM_001365999.1(SZT2):c.489G>T (p.Gln163His)
|
rs750195768
|
0.00001
|
|
NM_001365999.1(SZT2):c.616G>A (p.Asp206Asn)
|
rs764100978
|
0.00001
|
|
NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val)
|
rs755029775
|
0.00001
|
|
NM_001365999.1(SZT2):c.8635C>T (p.Arg2879Cys)
|
rs769509671
|
0.00001
|
|
NM_001365999.1(SZT2):c.9656C>A (p.Pro3219His)
|
rs907143812
|
0.00001
|
|
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)
|
rs370095957
|
0.00001
|
|
NM_001367561.1(DOCK7):c.2360G>A (p.Arg787Gln)
|
rs748112814
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
|
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
|
rs2065150683
|
0.00001
|
|
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
|
rs375535520
|
0.00001
|
|
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
|
rs771172171
|
0.00001
|
|
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
|
rs767875936
|
0.00001
|
|
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
|
rs765345610
|
0.00001
|
|
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
|
rs767357305
|
0.00001
|
|
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
|
rs991700425
|
0.00001
|
|
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
|
rs1192866131
|
0.00001
|
|
NM_001367823.1(ARHGEF18):c.968-251G>A
|
rs955776981
|
0.00001
|
|
NM_001367873.1(SOX6):c.1037T>C (p.Phe346Ser)
|
rs533363949
|
0.00001
|
|
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys)
|
rs773370724
|
0.00001
|
|
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)
|
rs915830221
|
0.00001
|
|
NM_001368067.1(LDB3):c.788G>A (p.Arg263His)
|
rs780518038
|
0.00001
|
|
NM_001368067.1(LDB3):c.803G>A (p.Arg268His)
|
rs751981682
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.3641A>G (p.Gln1214Arg)
|
rs200378461
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)
|
rs765739775
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.630G>A (p.Leu210=)
|
rs759712041
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)
|
rs751131036
|
0.00001
|
|
NM_001368882.1(COL13A1):c.1859G>A (p.Arg620His)
|
rs762247152
|
0.00001
|
|
NM_001368882.1(COL13A1):c.1880G>A (p.Gly627Glu)
|
rs868185554
|
0.00001
|
|
NM_001368882.1(COL13A1):c.2141_2142insCT (p.Leu715fs)
|
rs777393436
|
0.00001
|
|
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile)
|
rs376253368
|
0.00001
|
|
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)
|
rs559545340
|
0.00001
|
|
NM_001369.3(DNAH5):c.2432-3A>G
|
rs1773163926
|
0.00001
|
|
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)
|
rs1755004469
|
0.00001
|
|
NM_001369369.1(FOXN1):c.547G>A (p.Gly183Arg)
|
rs758422805
|
0.00001
|
|
NM_001370.2(DNAH6):c.4516A>G (p.Met1506Val)
|
rs1688691365
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.1273C>T (p.Pro425Ser)
|
rs1204710018
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.64A>G (p.Ile22Val)
|
rs770433426
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.812A>G (p.Asn271Ser)
|
rs140010459
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.906A>C (p.Glu302Asp)
|
rs765773988
|
0.00001
|
|
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)
|
rs1060499993
|
0.00001
|
|
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)
|
rs749692745
|
0.00001
|
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
|
NM_001371596.2(MFSD8):c.890T>C (p.Met297Thr)
|
rs1560732655
|
0.00001
|
|
NM_001371727.1(GABRB2):c.1049A>G (p.Asn350Ser)
|
rs758883075
|
0.00001
|
|
NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp)
|
rs761320400
|
0.00001
|
|
NM_001371928.1(AHDC1):c.3256T>G (p.Ser1086Ala)
|
rs766744511
|
0.00001
|
|
NM_001371928.1(AHDC1):c.3587C>T (p.Ser1196Leu)
|
rs748026081
|
0.00001
|
|
NM_001371928.1(AHDC1):c.461G>A (p.Arg154His)
|
rs778464882
|
0.00001
|
|
NM_001371986.1(UNC80):c.2528G>A (p.Arg843Gln)
|
rs1157578030
|
0.00001
|
|
NM_001371986.1(UNC80):c.3916G>A (p.Asp1306Asn)
|
rs899960452
|
0.00001
|
|
NM_001371986.1(UNC80):c.4508C>T (p.Pro1503Leu)
|
rs1391759120
|
0.00001
|
|
NM_001371986.1(UNC80):c.4658A>T (p.His1553Leu)
|
rs775914722
|
0.00001
|
|
NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met)
|
rs529047309
|
0.00001
|
|
NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
|
rs2082935103
|
0.00001
|
|
NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg)
|
rs768721175
|
0.00001
|
|
NM_001374353.1(GLI2):c.1262A>G (p.Asn421Ser)
|
rs757806597
|
0.00001
|
|
NM_001374353.1(GLI2):c.1366C>T (p.Arg456Cys)
|
rs370251398
|
0.00001
|
|
NM_001374353.1(GLI2):c.1447G>A (p.Glu483Lys)
|
rs750260084
|
0.00001
|
|
NM_001374353.1(GLI2):c.2252T>C (p.Leu751Pro)
|
rs973224338
|
0.00001
|
|
NM_001374353.1(GLI2):c.3367A>G (p.Asn1123Asp)
|
rs1683162266
|
0.00001
|
|
NM_001374353.1(GLI2):c.355C>G (p.His119Asp)
|
rs780453822
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
|
rs780186596
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser)
|
rs1240329007
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val)
|
rs1442638389
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr)
|
rs1296293849
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val)
|
rs775035352
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)
|
rs1048427417
|
0.00001
|
|
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)
|
rs368202669
|
0.00001
|
|
NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr)
|
rs770228055
|
0.00001
|
|
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln)
|
rs761133847
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln)
|
rs762183842
|
0.00001
|
|
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp)
|
rs920305028
|
0.00001
|
|
NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)
|
rs1472885479
|
0.00001
|
|
NM_001375380.1(EBF3):c.856G>A (p.Asp286Asn)
|
rs774203238
|
0.00001
|
|
NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)
|
rs375316354
|
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.2659A>G (p.Ile887Val)
|
rs2484747970
|
0.00001
|
|
NM_001375524.1(TRRAP):c.269G>A (p.Arg90Gln)
|
rs782445448
|
0.00001
|
|
NM_001375524.1(TRRAP):c.3430C>T (p.Arg1144Cys)
|
rs1020415712
|
0.00001
|
|
NM_001375524.1(TRRAP):c.366+2dup
|
rs782045958
|
0.00001
|
|
NM_001375524.1(TRRAP):c.4130A>G (p.Asn1377Ser)
|
rs782326376
|
0.00001
|
|
NM_001375524.1(TRRAP):c.6806A>G (p.Asn2269Ser)
|
rs529639313
|
0.00001
|
|
NM_001375524.1(TRRAP):c.6829G>A (p.Gly2277Arg)
|
rs750077597
|
0.00001
|
|
NM_001375524.1(TRRAP):c.7151A>G (p.Asn2384Ser)
|
rs750324066
|
0.00001
|
|
NM_001375524.1(TRRAP):c.8702G>C (p.Cys2901Ser)
|
rs141693208
|
0.00001
|
|
NM_001375524.1(TRRAP):c.9629C>T (p.Thr3210Ile)
|
rs1360401833
|
0.00001
|
|
NM_001375808.2(LPIN2):c.1228G>C (p.Gly410Arg)
|
rs745818701
|
0.00001
|
|
NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu)
|
rs755110304
|
0.00001
|
|
NM_001375808.2(LPIN2):c.1930G>A (p.Asp644Asn)
|
rs779176377
|
0.00001
|
|
NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser)
|
rs140915714
|
0.00001
|
|
NM_001375808.2(LPIN2):c.2609C>T (p.Ser870Phe)
|
rs769901079
|
0.00001
|
|
NM_001375808.2(LPIN2):c.689C>T (p.Pro230Leu)
|
rs1013107286
|
0.00001
|
|
NM_001375808.2(LPIN2):c.755C>T (p.Ala252Val)
|
rs774296727
|
0.00001
|
|
NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu)
|
rs891642872
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.10694G>A (p.Ser3565Asn)
|
rs547814062
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.11176G>A (p.Glu3726Lys)
|
rs2048608186
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.11563C>T (p.Arg3855Cys)
|
rs2503846430
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13888G>A (p.Glu4630Lys)
|
rs910511556
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=)
|
rs1416911485
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.6502G>A (p.Val2168Ile)
|
rs1567010429
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
|
rs757819428
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.6760A>G (p.Ile2254Val)
|
rs778972833
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.7586C>T (p.Ala2529Val)
|
rs746209887
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val)
|
rs1131691452
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.9364G>A (p.Val3122Met)
|
rs1567017307
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.9479G>A (p.Arg3160Gln)
|
rs777423061
|
0.00001
|
|
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val)
|
rs745905322
|
0.00001
|
|
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
|
rs147642551
|
0.00001
|
|
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
|
rs758603245
|
0.00001
|
|
NM_001376571.1(MADD):c.1811C>G (p.Ala604Gly)
|
rs989772549
|
0.00001
|
|
NM_001376571.1(MADD):c.2123G>A (p.Ser708Asn)
|
rs1332677653
|
0.00001
|
|
NM_001376571.1(MADD):c.2458T>G (p.Ser820Ala)
|
rs778218513
|
0.00001
|
|
NM_001376571.1(MADD):c.4223T>A (p.Val1408Glu)
|
rs756795627
|
0.00001
|
|
NM_001376571.1(MADD):c.4952G>T (p.Ter1651Leu)
|
rs895674965
|
0.00001
|
|
NM_001376571.1(MADD):c.671G>T (p.Trp224Leu)
|
rs1185821541
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.12567-3C>T
|
rs574906142
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.3188C>G (p.Pro1063Arg)
|
rs1287956697
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.6894-5C>T
|
rs552793888
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)
|
rs1290058471
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7793C>G (p.Pro2598Arg)
|
rs1419821485
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met)
|
rs1060501431
|
0.00001
|
|
NM_001377304.1(GFI1B):c.760G>A (p.Gly254Ser)
|
rs765446969
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)
|
rs759037918
|
0.00001
|
|
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His)
|
rs151049173
|
0.00001
|
|
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu)
|
rs142661175
|
0.00001
|
|
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val)
|
rs771672174
|
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_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
|
rs781542059
|
0.00001
|
|
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val)
|
rs572436251
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.1528-5C>T
|
rs1270126399
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.1709A>C (p.Lys570Thr)
|
rs1221483459
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.3662C>T (p.Pro1221Leu)
|
rs944241749
|
0.00001
|
|
NM_001378213.1(BCL9L):c.3481C>T (p.Pro1161Ser)
|
rs771732549
|
0.00001
|
|
NM_001378418.1(TCF20):c.1085A>C (p.Gln362Pro)
|
rs534423815
|
0.00001
|
|
NM_001378418.1(TCF20):c.1258C>T (p.Pro420Ser)
|
rs755234128
|
0.00001
|
|
NM_001378418.1(TCF20):c.1769C>T (p.Pro590Leu)
|
rs779125584
|
0.00001
|
|
NM_001378418.1(TCF20):c.1844G>T (p.Gly615Val)
|
rs766549069
|
0.00001
|
|
NM_001378418.1(TCF20):c.3133C>T (p.Arg1045Trp)
|
rs949181115
|
0.00001
|
|
NM_001378418.1(TCF20):c.3398G>A (p.Arg1133Gln)
|
rs778002350
|
0.00001
|
|
NM_001378418.1(TCF20):c.3853C>T (p.Leu1285Phe)
|
rs765753452
|
0.00001
|
|
NM_001378418.1(TCF20):c.761G>A (p.Ser254Asn)
|
rs767930085
|
0.00001
|
|
NM_001378452.1(ITPR1):c.1213C>T (p.Pro405Ser)
|
rs1575966394
|
0.00001
|
|
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser)
|
rs561470737
|
0.00001
|
|
NM_001378452.1(ITPR1):c.2351G>A (p.Arg784His)
|
rs749564517
|
0.00001
|
|
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn)
|
rs773030719
|
0.00001
|
|
NM_001378452.1(ITPR1):c.6838A>C (p.Asn2280His)
|
rs368097378
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys)
|
rs1395039285
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5912C>A (p.Ser1971Tyr)
|
rs1370702094
|
0.00001
|
|
NM_001378457.1(DMXL2):c.749G>A (p.Gly250Asp)
|
rs751938141
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.123+470A>G
|
rs1300773687
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4396T>G (p.Phe1466Val)
|
rs1170583979
|
0.00001
|
|
NM_001378743.1(CYLD):c.1142C>T (p.Ala381Val)
|
rs768648222
|
0.00001
|
|
NM_001378778.1(MPDZ):c.4843T>C (p.Ser1615Pro)
|
rs1424536726
|
0.00001
|
|
NM_001378778.1(MPDZ):c.5002G>C (p.Asp1668His)
|
rs1253261632
|
0.00001
|
|
NM_001378974.1(FBXW11):c.1489C>G (p.Pro497Ala)
|
rs1183202911
|
0.00001
|
|
NM_001378974.1(FBXW11):c.1543C>T (p.Arg515Cys)
|
rs1265464557
|
0.00001
|
|
NM_001379081.2(FREM1):c.737G>A (p.Arg246His)
|
rs749928640
|
0.00001
|
|
NM_001379286.1(ZNF423):c.3322G>A (p.Ala1108Thr)
|
rs778755872
|
0.00001
|
|
NM_001379451.1(BCORL1):c.2047A>G (p.Thr683Ala)
|
rs1376395740
|
0.00001
|
|
NM_001379451.1(BCORL1):c.2954A>G (p.Gln985Arg)
|
rs779877404
|
0.00001
|
|
NM_001379451.1(BCORL1):c.800C>T (p.Thr267Met)
|
rs781562011
|
0.00001
|
|
NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His)
|
rs770331440
|
0.00001
|
|
NM_001382347.1(MYO5A):c.1930C>T (p.His644Tyr)
|
rs2041830255
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-128C>T
|
rs775895663
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)
|
rs533327313
|
0.00001
|
|
NM_001382391.1(CSPP1):c.303+3A>T
|
rs920556156
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
|
rs2491094403
|
0.00001
|
|
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)
|
rs200907515
|
0.00001
|
|
NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr)
|
rs762820296
|
0.00001
|
|
NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr)
|
rs574393009
|
0.00001
|
|
NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr)
|
rs773818614
|
0.00001
|
|
NM_001384125.1(BLTP1):c.901+49_901+53dup
|
rs1181721273
|
0.00001
|
|
NM_001384125.1(BLTP1):c.9082C>T (p.Arg3028Cys)
|
rs1173813709
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2278A>G (p.Asn760Asp)
|
rs556510021
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys)
|
rs752031456
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)
|
rs752392154
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile)
|
rs779935366
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4261C>T (p.Arg1421Cys)
|
rs778919269
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)
|
rs766541647
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg)
|
rs566588740
|
0.00001
|
|
NM_001385012.1(NBEA):c.1832A>G (p.Lys611Arg)
|
rs767636645
|
0.00001
|
|
NM_001385012.1(NBEA):c.3341G>C (p.Ser1114Thr)
|
rs547907440
|
0.00001
|
|
NM_001385012.1(NBEA):c.3421A>G (p.Asn1141Asp)
|
rs1192689106
|
0.00001
|
|
NM_001385012.1(NBEA):c.3607A>G (p.Ile1203Val)
|
rs747445534
|
0.00001
|
|
NM_001385012.1(NBEA):c.4024C>T (p.Arg1342Trp)
|
rs752210726
|
0.00001
|
|
NM_001385012.1(NBEA):c.4802G>A (p.Arg1601Lys)
|
rs1368758552
|
0.00001
|
|
NM_001385012.1(NBEA):c.7201A>G (p.Asn2401Asp)
|
rs2081620949
|
0.00001
|
|
NM_001385012.1(NBEA):c.7225C>G (p.His2409Asp)
|
rs757742962
|
0.00001
|
|
NM_001385012.1(NBEA):c.8365G>A (p.Asp2789Asn)
|
rs374328478
|
0.00001
|
|
NM_001385012.1(NBEA):c.968G>A (p.Arg323His)
|
rs2502320106
|
0.00001
|
|
NM_001385079.1(PDE10A):c.1279G>A (p.Val427Ile)
|
rs370604056
|
0.00001
|
|
NM_001385079.1(PDE10A):c.1330C>A (p.Leu444Ile)
|
rs377447624
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.310G>A (p.Ala104Thr)
|
rs766719967
|
0.00001
|
|
NM_001386125.1(OBSCN):c.20563C>T (p.Arg6855Cys)
|
rs377477676
|
0.00001
|
|
NM_001386298.1(CIC):c.4724G>A (p.Arg1575His)
|
rs199751904
|
0.00001
|
|
NM_001386298.1(CIC):c.4726C>A (p.Pro1576Thr)
|
rs778219736
|
0.00001
|
|
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)
|
rs763496520
|
0.00001
|
|
NM_001386795.1(DTNA):c.590G>C (p.Cys197Ser)
|
rs2517762420
|
0.00001
|
|
NM_001387430.1(SH2B1):c.587G>T (p.Gly196Val)
|
rs1485010153
|
0.00001
|
|
NM_001394998.1(TANC2):c.1111A>G (p.Met371Val)
|
rs766681632
|
0.00001
|
|
NM_001394998.1(TANC2):c.2858G>A (p.Arg953Gln)
|
rs780205720
|
0.00001
|
|
NM_001394998.1(TANC2):c.3161A>G (p.Gln1054Arg)
|
rs367676849
|
0.00001
|
|
NM_001394998.1(TANC2):c.4370G>A (p.Arg1457Lys)
|
rs770714662
|
0.00001
|
|
NM_001394998.1(TANC2):c.601C>T (p.Arg201Trp)
|
rs755191740
|
0.00001
|
|
NM_001394998.1(TANC2):c.6177G>A (p.Gln2059=)
|
rs750994608
|
0.00001
|
|
NM_001394998.1(TANC2):c.936T>G (p.Ser312Arg)
|
rs1448615712
|
0.00001
|
|
NM_001395413.1(POR):c.157G>A (p.Glu53Lys)
|
rs782151568
|
0.00001
|
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
|
NM_001397.3(ECE1):c.935C>T (p.Thr312Met)
|
rs867547949
|
0.00001
|
|
NM_001414.4(EIF2B1):c.13G>A (p.Glu5Lys)
|
rs760294177
|
0.00001
|
|
NM_001429.4(EP300):c.2704C>T (p.Pro902Ser)
|
rs2517798206
|
0.00001
|
|
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
|
rs377517076
|
0.00001
|
|
NM_001429.4(EP300):c.6294A>G (p.Gln2098=)
|
rs1190484549
|
0.00001
|
|
NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)
|
rs1292757847
|
0.00001
|
|
NM_001448.3(GPC4):c.656G>A (p.Arg219His)
|
rs2068380290
|
0.00001
|
|
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
|
rs2480505082
|
0.00001
|
|
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser)
|
rs754067988
|
0.00001
|
|
NM_001457.4(FLNB):c.3625G>A (p.Gly1209Ser)
|
rs376375179
|
0.00001
|
|
NM_001457.4(FLNB):c.419C>T (p.Thr140Met)
|
rs748857986
|
0.00001
|
|
NM_001457.4(FLNB):c.7577T>A (p.Phe2526Tyr)
|
rs767712164
|
0.00001
|
|
NM_001457.4(FLNB):c.83A>T (p.Glu28Val)
|
rs1428809108
|
0.00001
|
|
NM_001458.5(FLNC):c.1003A>G (p.Thr335Ala)
|
rs1391359143
|
0.00001
|
|
NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys)
|
rs1362619480
|
0.00001
|
|
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile)
|
rs1309343033
|
0.00001
|
|
NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp)
|
rs1808189981
|
0.00001
|
|
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val)
|
rs777199447
|
0.00001
|
|
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val)
|
rs777210524
|
0.00001
|
|
NM_001458.5(FLNC):c.1552G>A (p.Gly518Ser)
|
rs766445387
|
0.00001
|
|
NM_001458.5(FLNC):c.1604G>A (p.Cys535Tyr)
|
rs62479630
|
0.00001
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
rs1461903090
|
0.00001
|
|
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)
|
rs1554396387
|
0.00001
|
|
NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys)
|
rs772574007
|
0.00001
|
|
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys)
|
rs373798394
|
0.00001
|
|
NM_001458.5(FLNC):c.2305G>T (p.Val769Leu)
|
rs1046022647
|
0.00001
|
|
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
0.00001
|
|
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr)
|
rs1386986739
|
0.00001
|
|
NM_001458.5(FLNC):c.2636G>A (p.Arg879His)
|
rs367997079
|
0.00001
|
|
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg)
|
rs769110628
|
0.00001
|
|
NM_001458.5(FLNC):c.2911G>A (p.Val971Ile)
|
rs548199973
|
0.00001
|
|
NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys)
|
rs775727204
|
0.00001
|
|
NM_001458.5(FLNC):c.3025C>T (p.Arg1009Trp)
|
rs746542712
|
0.00001
|
|
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)
|
rs904161285
|
0.00001
|
|
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser)
|
rs751887771
|
0.00001
|
|
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)
|
rs760500171
|
0.00001
|
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
|
NM_001458.5(FLNC):c.3500G>A (p.Arg1167His)
|
rs574074583
|
0.00001
|
|
NM_001458.5(FLNC):c.367G>A (p.Val123Met)
|
rs771153026
|
0.00001
|
|
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)
|
rs774968828
|
0.00001
|
|
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val)
|
rs1256859746
|
0.00001
|
|
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)
|
rs771575526
|
0.00001
|
|
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly)
|
rs138193236
|
0.00001
|
|
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg)
|
rs1218299104
|
0.00001
|
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
rs755832014
|
0.00001
|
|
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu)
|
rs1430761286
|
0.00001
|
|
NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp)
|
rs376265227
|
0.00001
|
|
NM_001458.5(FLNC):c.4540A>G (p.Thr1514Ala)
|
rs765591592
|
0.00001
|
|
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys)
|
rs746275035
|
0.00001
|
|
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)
|
rs374729872
|
0.00001
|
|
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn)
|
rs778534100
|
0.00001
|
|
NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln)
|
rs369178040
|
0.00001
|
|
NM_001458.5(FLNC):c.4655C>T (p.Ser1552Phe)
|
rs766674759
|
0.00001
|
|
NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu)
|
rs1351915127
|
0.00001
|
|
NM_001458.5(FLNC):c.4706C>T (p.Ala1569Val)
|
rs1407018839
|
0.00001
|
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
|
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp)
|
rs762493974
|
0.00001
|
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
rs374794518
|
0.00001
|
|
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)
|
rs1198641168
|
0.00001
|
|
NM_001458.5(FLNC):c.5656G>C (p.Asp1886His)
|
rs748033843
|
0.00001
|
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
|
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
0.00001
|
|
NM_001458.5(FLNC):c.6502G>A (p.Val2168Met)
|
rs1249871639
|
0.00001
|
|
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
|
rs1282230388
|
0.00001
|
|
NM_001458.5(FLNC):c.6527G>A (p.Arg2176His)
|
rs1295294313
|
0.00001
|
|
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys)
|
rs758838323
|
0.00001
|
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
|
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys)
|
rs1265897548
|
0.00001
|
|
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)
|
rs780658670
|
0.00001
|
|
NM_001458.5(FLNC):c.7201G>A (p.Val2401Met)
|
rs868744958
|
0.00001
|
|
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
0.00001
|
|
NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys)
|
rs769298304
|
0.00001
|
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00001
|
|
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)
|
rs746969946
|
0.00001
|
|
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr)
|
rs749891076
|
0.00001
|
|
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser)
|
rs566747845
|
0.00001
|
|
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)
|
rs746685461
|
0.00001
|
|
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
0.00001
|
|
NM_001492.6(GDF1):c.275T>C (p.Val92Ala)
|
rs756490784
|
0.00001
|
|
NM_001492.6(GDF1):c.572G>C (p.Gly191Ala)
|
rs1194443998
|
0.00001
|
|
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro)
|
rs868026629
|
0.00001
|
|
NM_001492.6(GDF1):c.811C>T (p.Arg271Trp)
|
rs1173969061
|
0.00001
|
|
NM_001493.3(GDI1):c.518G>A (p.Arg173Gln)
|
rs1253930257
|
0.00001
|
|
NM_001498.4(GCLC):c.1066G>A (p.Glu356Lys)
|
rs768012609
|
0.00001
|
|
NM_001498.4(GCLC):c.1427G>T (p.Arg476Ile)
|
rs765014293
|
0.00001
|
|
NM_001498.4(GCLC):c.935G>A (p.Arg312Gln)
|
rs200246491
|
0.00001
|
|
NM_001519.4(BRF1):c.1207G>A (p.Gly403Ser)
|
rs767304692
|
0.00001
|
|
NM_001540.5(HSPB1):c.158G>A (p.Gly53Asp)
|
rs375244209
|
0.00001
|
|
NM_001543.5(NDST1):c.883G>A (p.Val295Met)
|
rs747017483
|
0.00001
|
|
NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile)
|
rs2085083881
|
0.00001
|
|
NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys)
|
rs756650948
|
0.00001
|
|
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885
|
0.00001
|
|
NM_001605.3(AARS1):c.2521-5T>G
|
rs1555539335
|
0.00001
|
|
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln)
|
rs1033300766
|
0.00001
|
|
NM_001606.5(ABCA2):c.794G>A (p.Arg265Gln)
|
rs763614356
|
0.00001
|
|
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr)
|
rs748926593
|
0.00001
|
|
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)
|
rs752686625
|
0.00001
|
|
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
|
rs372537859
|
0.00001
|
|
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)
|
rs757461793
|
0.00001
|
|
NM_001626.6(AKT2):c.1039C>T (p.Arg347Cys)
|
rs145305228
|
0.00001
|
|
NM_001649.4(SHROOM2):c.4718C>T (p.Ala1573Val)
|
rs767591095
|
0.00001
|
|
NM_001650.7(AQP4):c.646C>T (p.Arg216Ter)
|
rs774171660
|
0.00001
|
|
NM_001655.5(ARCN1):c.941G>A (p.Arg314His)
|
rs782487231
|
0.00001
|
|
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)
|
rs754043007
|
0.00001
|
|
NM_001684.5(ATP2B4):c.2088A>G (p.Thr696=)
|
rs759927803
|
0.00001
|
|
NM_001684.5(ATP2B4):c.2902G>A (p.Val968Met)
|
rs748753019
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.174+415G>A
|
rs1254511471
|
0.00001
|
|
NM_001711.6(BGN):c.312G>C (p.Glu104Asp)
|
rs782533603
|
0.00001
|
|
NM_001723.7(DST):c.3935A>T (p.Lys1312Met)
|
rs781104654
|
0.00001
|
|
NM_001734.5(C1S):c.283A>G (p.Ile95Val)
|
rs781863014
|
0.00001
|
|
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
|
rs1388331401
|
0.00001
|
|
NM_001792.5(CDH2):c.2422C>T (p.Arg808Ter)
|
rs759639016
|
0.00001
|
|
NM_001805.4(CEBPE):c.829G>A (p.Val277Met)
|
rs747660576
|
0.00001
|
|
NM_001822.7(CHN1):c.361T>G (p.Leu121Val)
|
rs1301608361
|
0.00001
|
|
NM_001824.5(CKM):c.271C>T (p.Pro91Ser)
|
rs765177605
|
0.00001
|
|
NM_001829.4(CLCN3):c.1453G>A (p.Asp485Asn)
|
rs1322046061
|
0.00001
|
|
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met)
|
rs777561409
|
0.00001
|
|
NM_001843.4(CNTN1):c.2396C>T (p.Ala799Val)
|
rs781564785
|
0.00001
|
|
NM_001844.5(COL2A1):c.2593C>T (p.Pro865Ser)
|
rs2540122226
|
0.00001
|
|
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu)
|
rs777669076
|
0.00001
|
|
NM_001844.5(COL2A1):c.3569G>A (p.Arg1190His)
|
rs748549541
|
0.00001
|
|
NM_001844.5(COL2A1):c.3583G>A (p.Glu1195Lys)
|
rs1186663188
|
0.00001
|
|
NM_001844.5(COL2A1):c.3656A>G (p.Asp1219Gly)
|
rs751251798
|
0.00001
|
|
NM_001845.6(COL4A1):c.1397G>A (p.Ser466Asn)
|
rs778861332
|
0.00001
|
|
NM_001845.6(COL4A1):c.1937G>C (p.Gly646Ala)
|
rs532972509
|
0.00001
|
|
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)
|
rs760462654
|
0.00001
|
|
NM_001845.6(COL4A1):c.241A>G (p.Thr81Ala)
|
rs909463574
|
0.00001
|
|
NM_001845.6(COL4A1):c.2425C>T (p.Pro809Ser)
|
rs1388011423
|
0.00001
|
|
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)
|
rs757670001
|
0.00001
|
|
NM_001845.6(COL4A1):c.358C>G (p.Pro120Ala)
|
rs1879851744
|
0.00001
|
|
NM_001845.6(COL4A1):c.368C>T (p.Pro123Leu)
|
rs1456750343
|
0.00001
|
|
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
|
rs1474341500
|
0.00001
|
|
NM_001845.6(COL4A1):c.4718G>C (p.Gly1573Ala)
|
rs774341334
|
0.00001
|
|
NM_001845.6(COL4A1):c.4855C>T (p.Arg1619Cys)
|
rs755291402
|
0.00001
|
|
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu)
|
rs201767532
|
0.00001
|
|
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg)
|
rs370338256
|
0.00001
|
|
NM_001846.4(COL4A2):c.2908C>T (p.Arg970Ter)
|
rs758156725
|
0.00001
|
|
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser)
|
rs975120661
|
0.00001
|
|
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys)
|
rs560510434
|
0.00001
|
|
NM_001848.3(COL6A1):c.-1C>T
|
rs377142360
|
0.00001
|
|
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)
|
rs765826390
|
0.00001
|
|
NM_001848.3(COL6A1):c.1273-3C>T
|
rs766529458
|
0.00001
|
|
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr)
|
rs1436272876
|
0.00001
|
|
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)
|
rs753297152
|
0.00001
|
|
NM_001848.3(COL6A1):c.1349C>T (p.Pro450Leu)
|
rs759834554
|
0.00001
|
|
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)
|
rs764235653
|
0.00001
|
|
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
|
rs1428472482
|
0.00001
|
|
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu)
|
rs779748438
|
0.00001
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
0.00001
|
|
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
|
rs2077819024
|
0.00001
|
|
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
|
rs1397088680
|
0.00001
|
|
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
|
rs887316220
|
0.00001
|
|
NM_001848.3(COL6A1):c.1720C>T (p.Arg574Trp)
|
rs761678568
|
0.00001
|
|
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser)
|
rs778884385
|
0.00001
|
|
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys)
|
rs367650141
|
0.00001
|
|
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser)
|
rs760265069
|
0.00001
|
|
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)
|
rs886042572
|
0.00001
|
|
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala)
|
rs765815035
|
0.00001
|
|
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)
|
rs143925936
|
0.00001
|
|
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu)
|
rs936641232
|
0.00001
|
|
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)
|
rs751124572
|
0.00001
|
|
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met)
|
rs573185206
|
0.00001
|
|
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
|
rs760236780
|
0.00001
|
|
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile)
|
rs375831680
|
0.00001
|
|
NM_001848.3(COL6A1):c.2810A>G (p.Lys937Arg)
|
rs1313797179
|
0.00001
|
|
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
|
NM_001848.3(COL6A1):c.2894C>T (p.Ala965Val)
|
rs1339806588
|
0.00001
|
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
|
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)
|
rs751518356
|
0.00001
|
|
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)
|
rs767414809
|
0.00001
|
|
NM_001848.3(COL6A1):c.520G>T (p.Asp174Tyr)
|
rs1276672073
|
0.00001
|
|
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
|
rs1378555453
|
0.00001
|
|
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
|
rs1458430503
|
0.00001
|
|
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)
|
rs1343618467
|
0.00001
|
|
NM_001848.3(COL6A1):c.77C>T (p.Pro26Leu)
|
rs150165253
|
0.00001
|
|
NM_001848.3(COL6A1):c.85G>A (p.Val29Met)
|
rs766057159
|
0.00001
|
|
NM_001848.3(COL6A1):c.93C>A (p.Phe31Leu)
|
rs753371577
|
0.00001
|
|
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser)
|
rs2078489585
|
0.00001
|
|
NM_001849.4(COL6A2):c.1024C>T (p.Pro342Ser)
|
rs570110933
|
0.00001
|
|
NM_001849.4(COL6A2):c.1031G>C (p.Cys344Ser)
|
rs886043223
|
0.00001
|
|
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
|
rs750118927
|
0.00001
|
|
NM_001849.4(COL6A2):c.1148C>T (p.Pro383Leu)
|
rs866527724
|
0.00001
|
|
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)
|
rs200482836
|
0.00001
|
|
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)
|
rs770222615
|
0.00001
|
|
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)
|
rs367693258
|
0.00001
|
|
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
|
rs768102862
|
0.00001
|
|
NM_001849.4(COL6A2):c.1795A>G (p.Arg599Gly)
|
rs2078643242
|
0.00001
|
|
NM_001849.4(COL6A2):c.1831T>C (p.Cys611Arg)
|
rs794727399
|
0.00001
|
|
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
|
rs746193653
|
0.00001
|
|
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr)
|
rs766374821
|
0.00001
|
|
NM_001849.4(COL6A2):c.1895C>T (p.Thr632Ile)
|
rs1042338524
|
0.00001
|
|
NM_001849.4(COL6A2):c.1961C>A (p.Ser654Tyr)
|
rs780482784
|
0.00001
|
|
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)
|
rs758788067
|
0.00001
|
|
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys)
|
rs727502830
|
0.00001
|
|
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)
|
rs138948335
|
0.00001
|
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
|
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)
|
rs886038496
|
0.00001
|
|
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His)
|
rs749451502
|
0.00001
|
|
NM_001849.4(COL6A2):c.2302G>A (p.Glu768Lys)
|
rs781630708
|
0.00001
|
|
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg)
|
rs727502834
|
0.00001
|
|
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
|
rs1230662669
|
0.00001
|
|
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)
|
rs1243558040
|
0.00001
|
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
|
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His)
|
rs201035005
|
0.00001
|
|
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp)
|
rs752291709
|
0.00001
|
|
NM_001849.4(COL6A2):c.2758G>A (p.Gly920Ser)
|
rs758061270
|
0.00001
|
|
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu)
|
rs780505425
|
0.00001
|
|
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
|
rs895235616
|
0.00001
|
|
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser)
|
rs370593484
|
0.00001
|
|
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu)
|
rs1555877365
|
0.00001
|
|
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn)
|
rs750682710
|
0.00001
|
|
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)
|
rs749711324
|
0.00001
|
|
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile)
|
rs886044102
|
0.00001
|
|
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)
|
rs559666084
|
0.00001
|
|
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
|
rs1248302740
|
0.00001
|
|
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu)
|
rs1355259368
|
0.00001
|
|
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)
|
rs779287707
|
0.00001
|
|
NM_001849.4(COL6A2):c.706A>G (p.Lys236Glu)
|
rs1279365835
|
0.00001
|
|
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)
|
rs199806576
|
0.00001
|
|
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
|
rs770089592
|
0.00001
|
|
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)
|
rs759838639
|
0.00001
|
|
NM_001849.4(COL6A2):c.955-3C>T
|
rs1208931749
|
0.00001
|
|
NM_001851.6(COL9A1):c.1258T>A (p.Ser420Thr)
|
rs971866455
|
0.00001
|
|
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)
|
rs571441243
|
0.00001
|
|
NM_001851.6(COL9A1):c.971C>G (p.Ala324Gly)
|
rs750301684
|
0.00001
|
|
NM_001853.4(COL9A3):c.1681C>T (p.Pro561Ser)
|
rs756782482
|
0.00001
|
|
NM_001853.4(COL9A3):c.1741G>A (p.Gly581Arg)
|
rs756015135
|
0.00001
|
|
NM_001853.4(COL9A3):c.874G>A (p.Gly292Arg)
|
rs768224094
|
0.00001
|
|
NM_001854.4(COL11A1):c.1600A>G (p.Met534Val)
|
rs1374892742
|
0.00001
|
|
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu)
|
rs760689529
|
0.00001
|
|
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu)
|
rs769308801
|
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.2022T>A (p.Asn674Lys)
|
rs1248368809
|
0.00001
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
rs141178702
|
0.00001
|
|
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile)
|
rs764692013
|
0.00001
|
|
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys)
|
rs780487379
|
0.00001
|
|
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
|
rs200303993
|
0.00001
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
0.00001
|
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
0.00001
|
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
rs371830218
|
0.00001
|
|
NM_001927.4(DES):c.1189G>T (p.Ala397Ser)
|
rs727502951
|
0.00001
|
|
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
|
rs1400200477
|
0.00001
|
|
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
|
rs1200347906
|
0.00001
|
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
0.00001
|
|
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
|
rs749447320
|
0.00001
|
|
NM_001927.4(DES):c.694C>T (p.Leu232Phe)
|
rs764764823
|
0.00001
|
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
|
NM_001927.4(DES):c.943C>T (p.Arg315Cys)
|
rs748742357
|
0.00001
|
|
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
|
rs782226091
|
0.00001
|
|
NM_001940.4(ATN1):c.-162-2712A>G
|
rs1945456497
|
0.00001
|
|
NM_001940.4(ATN1):c.1136G>T (p.Ser379Ile)
|
rs371878798
|
0.00001
|
|
NM_001940.4(ATN1):c.2441A>G (p.Glu814Gly)
|
rs371882969
|
0.00001
|
|
NM_001940.4(ATN1):c.2731G>A (p.Val911Met)
|
rs371909649
|
0.00001
|
|
NM_001940.4(ATN1):c.2930T>C (p.Leu977Pro)
|
rs782626558
|
0.00001
|
|
NM_001940.4(ATN1):c.3250G>A (p.Ala1084Thr)
|
rs782340570
|
0.00001
|
|
NM_001940.4(ATN1):c.3454C>T (p.Arg1152Cys)
|
rs781906555
|
0.00001
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
0.00001
|
|
NM_001958.5(EEF1A2):c.270C>T (p.Ile90=)
|
rs753087033
|
0.00001
|
|
NM_001958.5(EEF1A2):c.358G>A (p.Val120Met)
|
rs758901823
|
0.00001
|
|
NM_001961.4(EEF2):c.1130C>T (p.Pro377Leu)
|
rs1377534088
|
0.00001
|
|
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)
|
rs1592232580
|
0.00001
|
|
NM_001982.4(ERBB3):c.3674T>C (p.Met1225Thr)
|
rs768081452
|
0.00001
|
|
NM_001999.4(FBN2):c.1039C>T (p.Arg347Cys)
|
rs1406694303
|
0.00001
|
|
NM_001999.4(FBN2):c.1723G>C (p.Asp575His)
|
rs1444825631
|
0.00001
|
|
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu)
|
rs767644891
|
0.00001
|
|
NM_001999.4(FBN2):c.7594G>A (p.Asp2532Asn)
|
rs1233299592
|
0.00001
|
|
NM_002025.4(AFF2):c.2009G>A (p.Arg670His)
|
rs1569557647
|
0.00001
|
|
NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn)
|
rs1029815702
|
0.00001
|
|
NM_002031.3(FRK):c.1253C>G (p.Ser418Ter)
|
rs141208044
|
0.00001
|
|
NM_002047.4(GARS1):c.2078G>A (p.Arg693Gln)
|
rs761396453
|
0.00001
|
|
NM_002049.4(GATA1):c.173C>T (p.Ala58Val)
|
rs782299679
|
0.00001
|
|
NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)
|
rs372469171
|
0.00001
|
|
NM_002087.4(GRN):c.796G>C (p.Ala266Pro)
|
rs747362041
|
0.00001
|
|
NM_002101.5(GYPC):c.167T>A (p.Ile56Lys)
|
rs563789567
|
0.00001
|
|
NM_002101.5(GYPC):c.198T>G (p.Ile66Met)
|
rs1173093719
|
0.00001
|
|
NM_002101.5(GYPC):c.44G>A (p.Ser15Asn)
|
rs768999843
|
0.00001
|
|
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)
|
rs756191455
|
0.00001
|
|
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)
|
rs757279674
|
0.00001
|
|
NM_002109.6(HARS1):c.262G>A (p.Gly88Ser)
|
rs574448668
|
0.00001
|
|
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
|
rs1408800953
|
0.00001
|
|
NM_002139.4(RBMX):c.217-2dup
|
rs746388350
|
0.00001
|
|
NM_002148.4(HOXD10):c.753C>G (p.Ile251Met)
|
rs1028897377
|
0.00001
|
|
NM_002156.5(HSPD1):c.1253A>C (p.Lys418Thr)
|
rs746843596
|
0.00001
|
|
NM_002160.4(TNC):c.1622G>A (p.Arg541His)
|
rs761698227
|
0.00001
|
|
NM_002161.6(IARS1):c.3005A>G (p.Asn1002Ser)
|
rs755039797
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr)
|
rs145076368
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val)
|
rs876661217
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.136T>G (p.Cys46Gly)
|
rs982646623
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1393T>C (p.Ser465Pro)
|
rs1303182459
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
|
rs536556753
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn)
|
rs1317117261
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val)
|
rs779854653
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met)
|
rs777591006
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.323G>A (p.Arg108Gln)
|
rs756037055
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys)
|
rs374952782
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
|
rs201726883
|
0.00001
|
|
NM_002203.4(ITGA2):c.1411A>G (p.Asn471Asp)
|
rs775828798
|
0.00001
|
|
NM_002206.3(ITGA7):c.1091A>T (p.His364Leu)
|
rs772387657
|
0.00001
|
|
NM_002206.3(ITGA7):c.1267G>A (p.Ala423Thr)
|
rs779666592
|
0.00001
|
|
NM_002206.3(ITGA7):c.1465G>A (p.Asp489Asn)
|
rs1318351319
|
0.00001
|
|
NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly)
|
rs750220462
|
0.00001
|
|
NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln)
|
rs752569950
|
0.00001
|
|
NM_002206.3(ITGA7):c.1771G>A (p.Val591Met)
|
rs774213412
|
0.00001
|
|
NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)
|
rs1362729156
|
0.00001
|
|
NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)
|
rs770092173
|
0.00001
|
|
NM_002206.3(ITGA7):c.214G>C (p.Val72Leu)
|
rs766173576
|
0.00001
|
|
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile)
|
rs773004449
|
0.00001
|
|
NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)
|
rs768483558
|
0.00001
|
|
NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser)
|
rs761965919
|
0.00001
|
|
NM_002206.3(ITGA7):c.253G>A (p.Ala85Thr)
|
rs1298182902
|
0.00001
|
|
NM_002206.3(ITGA7):c.277G>A (p.Ala93Thr)
|
rs777338785
|
0.00001
|
|
NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)
|
rs1203182314
|
0.00001
|
|
NM_002206.3(ITGA7):c.2905C>T (p.Arg969Cys)
|
rs17857368
|
0.00001
|
|
NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)
|
rs1227757633
|
0.00001
|
|
NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu)
|
rs1292181810
|
0.00001
|
|
NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)
|
rs1488644728
|
0.00001
|
|
NM_002206.3(ITGA7):c.3236A>G (p.His1079Arg)
|
rs749520789
|
0.00001
|
|
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr)
|
rs761095619
|
0.00001
|
|
NM_002206.3(ITGA7):c.446G>A (p.Arg149Gln)
|
rs758978382
|
0.00001
|
|
NM_002206.3(ITGA7):c.632A>G (p.Tyr211Cys)
|
rs1432415313
|
0.00001
|
|
NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)
|
rs1035220238
|
0.00001
|
|
NM_002206.3(ITGA7):c.7G>A (p.Gly3Arg)
|
rs544939783
|
0.00001
|
|
NM_002224.4(ITPR3):c.5138-8G>A
|
rs770721262
|
0.00001
|
|
NM_002227.4(JAK1):c.426G>T (p.Lys142Asn)
|
rs747560156
|
0.00001
|
|
NM_002234.4(KCNA5):c.512G>A (p.Ser171Asn)
|
rs767230624
|
0.00001
|
|
NM_002250.3(KCNN4):c.766G>A (p.Val256Met)
|
rs201430049
|
0.00001
|
|
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)
|
rs772653108
|
0.00001
|
|
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)
|
rs1389720019
|
0.00001
|
|
NM_002250.3(KCNN4):c.970A>G (p.Met324Val)
|
rs748400448
|
0.00001
|
|
NM_002291.3(LAMB1):c.1070T>C (p.Val357Ala)
|
rs1448140555
|
0.00001
|
|
NM_002291.3(LAMB1):c.109C>T (p.Pro37Ser)
|
rs761365168
|
0.00001
|
|
NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)
|
rs141833232
|
0.00001
|
|
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr)
|
rs201756319
|
0.00001
|
|
NM_002292.4(LAMB2):c.364G>C (p.Ala122Pro)
|
rs1298091592
|
0.00001
|
|
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)
|
rs768733310
|
0.00001
|
|
NM_002354.3(EPCAM):c.260C>T (p.Ala87Val)
|
rs537866903
|
0.00001
|
|
NM_002397.5(MEF2C):c.480T>C (p.Pro160=)
|
rs200518765
|
0.00001
|
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
|
NM_002465.4(MYBPC1):c.439G>A (p.Val147Met)
|
rs1181984669
|
0.00001
|
|
NM_002465.4(MYBPC1):c.59A>C (p.Glu20Ala)
|
rs762880331
|
0.00001
|
|
NM_002469.3(MYF6):c.520-1G>T
|
rs1868410828
|
0.00001
|
|
NM_002470.4(MYH3):c.1249A>T (p.Thr417Ser)
|
rs759276020
|
0.00001
|
|
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys)
|
rs539740208
|
0.00001
|
|
NM_002471.4(MYH6):c.2008C>T (p.His670Tyr)
|
rs754199269
|
0.00001
|
|
NM_002471.4(MYH6):c.2292+1G>A
|
rs771569935
|
0.00001
|
|
NM_002471.4(MYH6):c.2365C>T (p.Arg789Cys)
|
rs200925880
|
0.00001
|
|
NM_002471.4(MYH6):c.2425C>T (p.Arg809Cys)
|
rs746955749
|
0.00001
|
|
NM_002471.4(MYH6):c.3809G>A (p.Arg1270His)
|
rs767603407
|
0.00001
|
|
NM_002471.4(MYH6):c.3913C>T (p.Arg1305Trp)
|
rs763328656
|
0.00001
|
|
NM_002471.4(MYH6):c.3978G>C (p.Lys1326Asn)
|
rs771913365
|
0.00001
|
|
NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr)
|
rs1178789950
|
0.00001
|
|
NM_002473.6(MYH9):c.3894G>T (p.Lys1298Asn)
|
rs755837040
|
0.00001
|
|
NM_002473.6(MYH9):c.5854G>C (p.Asp1952His)
|
rs1247127142
|
0.00001
|
|
NM_002474.3(MYH11):c.1315C>T (p.Arg439Cys)
|
rs1567736003
|
0.00001
|
|
NM_002474.3(MYH11):c.1924G>A (p.Ala642Thr)
|
rs371750065
|
0.00001
|
|
NM_002474.3(MYH11):c.1981C>G (p.Leu661Val)
|
rs1267658886
|
0.00001
|
|
NM_002474.3(MYH11):c.3245A>G (p.Lys1082Arg)
|
rs2041154290
|
0.00001
|
|
NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr)
|
rs1483548054
|
0.00001
|
|
NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr)
|
rs2040479391
|
0.00001
|
|
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys)
|
rs587781557
|
0.00001
|
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
|
NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)
|
rs1030352567
|
0.00001
|
|
NM_002500.5(NEUROD1):c.1040G>T (p.Ser347Ile)
|
rs367986359
|
0.00001
|
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
|
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)
|
rs369575066
|
0.00001
|
|
NM_002506.3(NGF):c.202C>T (p.Arg68Cys)
|
rs572066909
|
0.00001
|
|
NM_002542.6(OGG1):c.446A>G (p.Asn149Ser)
|
rs752330449
|
0.00001
|
|
NM_002547.3(OPHN1):c.148A>G (p.Met50Val)
|
rs367993068
|
0.00001
|
|
NM_002576.5(PAK1):c.814C>T (p.Arg272Trp)
|
rs767363828
|
0.00001
|
|
NM_002578.5(PAK3):c.447A>T (p.Gly149=)
|
rs1429686948
|
0.00001
|
|
NM_002582.4(PARN):c.534G>T (p.Lys178Asn)
|
rs1356812555
|
0.00001
|
|
NM_002599.5(PDE2A):c.2369G>A (p.Arg790Gln)
|
rs754739546
|
0.00001
|
|
NM_002608.4(PDGFB):c.17C>T (p.Ala6Val)
|
rs752369241
|
0.00001
|
|
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)
|
rs762039865
|
0.00001
|
|
NM_002617.4(PEX10):c.*3C>T
|
rs778701948
|
0.00001
|
|
NM_002617.4(PEX10):c.4G>T (p.Ala2Ser)
|
rs770336711
|
0.00001
|
|
NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)
|
rs751081628
|
0.00001
|
|
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
|
rs1271156554
|
0.00001
|
|
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
|
rs367798015
|
0.00001
|
|
NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile)
|
rs1369042151
|
0.00001
|
|
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
|
rs782283276
|
0.00001
|
|
NM_002658.6(PLAU):c.548A>G (p.Glu183Gly)
|
rs528323261
|
0.00001
|
|
NM_002658.6(PLAU):c.754A>T (p.Met252Leu)
|
rs1028197552
|
0.00001
|
|
NM_002661.5(PLCG2):c.956C>G (p.Ser319Cys)
|
rs746915998
|
0.00001
|
|
NM_002662.5(PLD1):c.2284A>G (p.Ile762Val)
|
rs781545382
|
0.00001
|
|
NM_002691.4(POLD1):c.652C>T (p.Arg218Cys)
|
rs1295943468
|
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.1910G>A (p.Gly637Asp)
|
rs748925763
|
0.00001
|
|
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)
|
rs201144044
|
0.00001
|
|
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)
|
rs781256643
|
0.00001
|
|
NM_002693.3(POLG):c.809A>G (p.Asn270Ser)
|
rs1363908609
|
0.00001
|
|
NM_002742.3(PRKD1):c.1061G>A (p.Ser354Asn)
|
rs1425147156
|
0.00001
|
|
NM_002742.3(PRKD1):c.1585G>A (p.Ala529Thr)
|
rs764016558
|
0.00001
|
|
NM_002834.5(PTPN11):c.1241C>T (p.Thr414Met)
|
rs1193000800
|
0.00001
|
|
NM_002834.5(PTPN11):c.521G>A (p.Cys174Tyr)
|
rs1324123217
|
0.00001
|
|
NM_002834.5(PTPN11):c.849G>T (p.Leu283=)
|
rs1380555031
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr)
|
rs560598479
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)
|
rs754880517
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)
|
rs201801058
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
|
rs1445597276
|
0.00001
|
|
NM_002880.4(RAF1):c.1067G>C (p.Gly356Ala)
|
rs1357778828
|
0.00001
|
|
NM_002894.3(RBBP8):c.1487G>A (p.Arg496Gln)
|
rs201903109
|
0.00001
|
|
NM_002894.3(RBBP8):c.65A>C (p.Asp22Ala)
|
rs758961826
|
0.00001
|
|
NM_002900.3(RBP3):c.2240G>A (p.Arg747His)
|
rs199953057
|
0.00001
|
|
NM_002907.4(RECQL):c.394+1G>A
|
rs1237988770
|
0.00001
|
|
NM_003001.5(SDHC):c.488C>T (p.Ser163Phe)
|
rs1672554146
|
0.00001
|
|
NM_003002.4(SDHD):c.88C>T (p.His30Tyr)
|
rs561759202
|
0.00001
|
|
NM_003024.3(ITSN1):c.25G>A (p.Gly9Ser)
|
rs143930451
|
0.00001
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
0.00001
|
|
NM_003038.5(SLC1A4):c.570G>A (p.Thr190=)
|
rs1422496213
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00001
|
|
NM_003049.4(SLC10A1):c.603C>T (p.Ala201=)
|
rs777823927
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly)
|
rs1224278173
|
0.00001
|
|
NM_003070.5(SMARCA2):c.1489C>A (p.Arg497=)
|
rs1820447187
|
0.00001
|
|
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu)
|
rs199989401
|
0.00001
|
|
NM_003070.5(SMARCA2):c.2527-3T>C
|
rs781267277
|
0.00001
|
|
NM_003070.5(SMARCA2):c.3169C>T (p.Arg1057Cys)
|
rs199759640
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser)
|
rs772153816
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
|
NM_003074.4(SMARCC1):c.161C>T (p.Ser54Leu)
|
rs1269050085
|
0.00001
|
|
NM_003076.5(SMARCD1):c.1460C>G (p.Ala487Gly)
|
rs541161761
|
0.00001
|
|
NM_003085.5(SNCB):c.37G>C (p.Glu13Gln)
|
rs1169250840
|
0.00001
|
|
NM_003091.4(SNRPB):c.457G>A (p.Ala153Thr)
|
rs376318628
|
0.00001
|
|
NM_003097.6(SNRPN):c.637A>G (p.Ile213Val)
|
rs762574002
|
0.00001
|
|
NM_003098.3(SNTA1):c.1487C>T (p.Ala496Val)
|
rs1989653209
|
0.00001
|
|
NM_003114.5(SPAG1):c.1180G>A (p.Glu394Lys)
|
rs866362675
|
0.00001
|
|
NM_003114.5(SPAG1):c.2066G>A (p.Gly689Glu)
|
rs745853774
|
0.00001
|
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
|
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
|
rs1476574056
|
0.00001
|
|
NM_003124.5(SPR):c.616C>T (p.Gln206Ter)
|
rs1030979700
|
0.00001
|
|
NM_003126.4(SPTA1):c.1038A>T (p.Glu346Asp)
|
rs768589104
|
0.00001
|
|
NM_003126.4(SPTA1):c.1115A>G (p.Tyr372Cys)
|
rs1654281838
|
0.00001
|
|
NM_003126.4(SPTA1):c.113T>C (p.Phe38Ser)
|
rs1366921505
|
0.00001
|
|
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro)
|
rs121918635
|
0.00001
|
|
NM_003126.4(SPTA1):c.1900A>G (p.Lys634Glu)
|
rs377757393
|
0.00001
|
|
NM_003126.4(SPTA1):c.1913A>C (p.Glu638Ala)
|
rs770031122
|
0.00001
|
|
NM_003126.4(SPTA1):c.1920A>G (p.Ile640Met)
|
rs369680582
|
0.00001
|
|
NM_003126.4(SPTA1):c.199A>G (p.Lys67Glu)
|
rs1273701490
|
0.00001
|
|
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met)
|
rs777149969
|
0.00001
|
|
NM_003126.4(SPTA1):c.2351C>G (p.Thr784Ser)
|
rs1557972651
|
0.00001
|
|
NM_003126.4(SPTA1):c.2443T>A (p.Ser815Thr)
|
rs1262785865
|
0.00001
|
|
NM_003126.4(SPTA1):c.2501G>A (p.Arg834Lys)
|
rs996649389
|
0.00001
|
|
NM_003126.4(SPTA1):c.2660G>A (p.Arg887Gln)
|
rs941535029
|
0.00001
|
|
NM_003126.4(SPTA1):c.2823T>A (p.His941Gln)
|
rs1478000749
|
0.00001
|
|
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)
|
rs774722673
|
0.00001
|
|
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
|
rs202042176
|
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.3699A>G (p.Val1233=)
|
rs895328843
|
0.00001
|
|
NM_003126.4(SPTA1):c.4768G>C (p.Asp1590His)
|
rs1213083143
|
0.00001
|
|
NM_003126.4(SPTA1):c.4995C>A (p.Asp1665Glu)
|
rs761286351
|
0.00001
|
|
NM_003126.4(SPTA1):c.5310G>C (p.Gln1770His)
|
rs1205991857
|
0.00001
|
|
NM_003126.4(SPTA1):c.5351C>T (p.Ala1784Val)
|
rs113693504
|
0.00001
|
|
NM_003126.4(SPTA1):c.5432G>A (p.Arg1811Gln)
|
rs748672916
|
0.00001
|
|
NM_003126.4(SPTA1):c.5803T>G (p.Trp1935Gly)
|
rs1438333026
|
0.00001
|
|
NM_003126.4(SPTA1):c.5965A>G (p.Thr1989Ala)
|
rs763995272
|
0.00001
|
|
NM_003126.4(SPTA1):c.6025C>T (p.Arg2009Cys)
|
rs374336960
|
0.00001
|
|
NM_003126.4(SPTA1):c.6407A>C (p.Asp2136Ala)
|
rs1227126267
|
0.00001
|
|
NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys)
|
rs553043635
|
0.00001
|
|
NM_003126.4(SPTA1):c.6974C>T (p.Ala2325Val)
|
rs1472406241
|
0.00001
|
|
NM_003126.4(SPTA1):c.7241A>G (p.Asn2414Ser)
|
rs776797243
|
0.00001
|
|
NM_003126.4(SPTA1):c.725T>C (p.Val242Ala)
|
rs765274573
|
0.00001
|
|
NM_003126.4(SPTA1):c.757G>C (p.Ala253Pro)
|
rs1384649105
|
0.00001
|
|
NM_003128.3(SPTBN1):c.1573G>A (p.Glu525Lys)
|
rs140411223
|
0.00001
|
|
NM_003128.3(SPTBN1):c.3728C>T (p.Ser1243Leu)
|
rs747938175
|
0.00001
|
|
NM_003128.3(SPTBN1):c.5270C>T (p.Thr1757Met)
|
rs1284612527
|
0.00001
|
|
NM_003139.4(SRPRA):c.671G>A (p.Gly224Asp)
|
rs1232944148
|
0.00001
|
|
NM_003172.4(SURF1):c.304C>G (p.Pro102Ala)
|
rs782402465
|
0.00001
|
|
NM_003190.5(TAPBP):c.1345T>G (p.Ter449Gly)
|
rs1292795497
|
0.00001
|
|
NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)
|
rs750744949
|
0.00001
|
|
NM_003235.5(TG):c.1451A>T (p.Asn484Ile)
|
rs777190518
|
0.00001
|
|
NM_003235.5(TG):c.1835C>G (p.Pro612Arg)
|
rs772505924
|
0.00001
|
|
NM_003235.5(TG):c.5608C>G (p.Gln1870Glu)
|
rs201193012
|
0.00001
|
|
NM_003235.5(TG):c.6274T>C (p.Ser2092Pro)
|
rs776093551
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
|
rs1699357617
|
0.00001
|
|
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val)
|
rs761231369
|
0.00001
|
|
NM_003243.5(TGFBR3):c.1267C>T (p.Arg423Trp)
|
rs766001542
|
0.00001
|
|
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys)
|
rs1317953556
|
0.00001
|
|
NM_003283.6(TNNT1):c.518G>A (p.Gly173Asp)
|
rs1209124378
|
0.00001
|
|
NM_003283.6(TNNT1):c.524G>A (p.Arg175Gln)
|
rs376309451
|
0.00001
|
|
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln)
|
rs765133367
|
0.00001
|
|
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)
|
rs755220612
|
0.00001
|
|
NM_003285.3(TNR):c.2858T>C (p.Met953Thr)
|
rs1226105224
|
0.00001
|
|
NM_003285.3(TNR):c.782G>A (p.Cys261Tyr)
|
rs1396750503
|
0.00001
|
|
NM_003289.4(TPM2):c.436A>G (p.Met146Val)
|
rs764320619
|
0.00001
|
|
NM_003289.4(TPM2):c.755C>T (p.Thr252Ile)
|
rs773153723
|
0.00001
|
|
NM_003359.4(UGDH):c.304C>T (p.Arg102Trp)
|
rs779742282
|
0.00001
|
|
NM_003361.4(UMOD):c.1445A>T (p.Glu482Val)
|
rs1965196355
|
0.00001
|
|
NM_003361.4(UMOD):c.529C>T (p.His177Tyr)
|
rs1305539299
|
0.00001
|
|
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
|
rs771268198
|
0.00001
|
|
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
|
rs577402784
|
0.00001
|
|
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
|
rs1817919690
|
0.00001
|
|
NM_003482.4(KMT2D):c.10342C>T (p.Pro3448Ser)
|
rs752712305
|
0.00001
|
|
NM_003482.4(KMT2D):c.10835A>G (p.Gln3612Arg)
|
rs1264110495
|
0.00001
|
|
NM_003482.4(KMT2D):c.15731A>G (p.Lys5244Arg)
|
rs1321544261
|
0.00001
|
|
NM_003482.4(KMT2D):c.16015G>A (p.Ala5339Thr)
|
rs373319977
|
0.00001
|
|
NM_003482.4(KMT2D):c.1792C>T (p.Arg598Cys)
|
rs778514296
|
0.00001
|
|
NM_003482.4(KMT2D):c.2831C>T (p.Thr944Ile)
|
rs200402575
|
0.00001
|
|
NM_003482.4(KMT2D):c.3370C>T (p.Pro1124Ser)
|
rs772239870
|
0.00001
|
|
NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala)
|
rs747014712
|
0.00001
|
|
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)
|
rs368767696
|
0.00001
|
|
NM_003482.4(KMT2D):c.9950T>G (p.Leu3317Arg)
|
rs1458256405
|
0.00001
|
|
NM_003494.4(DYSF):c.11T>G (p.Val4Gly)
|
rs760262472
|
0.00001
|
|
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)
|
rs1354334539
|
0.00001
|
|
NM_003494.4(DYSF):c.33C>G (p.Asn11Lys)
|
rs760168438
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys)
|
rs1048444597
|
0.00001
|
|
NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)
|
rs950467549
|
0.00001
|
|
NM_003587.5(DHX16):c.2789G>A (p.Ser930Asn)
|
rs1368963520
|
0.00001
|
|
NM_003587.5(DHX16):c.2867G>A (p.Arg956Gln)
|
rs1447358889
|
0.00001
|
|
NM_003590.5(CUL3):c.2222T>C (p.Ile741Thr)
|
rs778175467
|
0.00001
|
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
|
NM_003611.3(OFD1):c.1830T>G (p.Asn610Lys)
|
rs2518938060
|
0.00001
|
|
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
|
rs2518998297
|
0.00001
|
|
NM_003611.3(OFD1):c.806A>G (p.Glu269Gly)
|
rs2047319254
|
0.00001
|
|
NM_003632.3(CNTNAP1):c.1279G>A (p.Gly427Ser)
|
rs754056108
|
0.00001
|
|
NM_003632.3(CNTNAP1):c.391G>A (p.Ala131Thr)
|
rs562221422
|
0.00001
|
|
NM_003638.3(ITGA8):c.2075T>A (p.Ile692Lys)
|
rs551611225
|
0.00001
|
|
NM_003665.4(FCN3):c.440G>T (p.Trp147Leu)
|
rs199689497
|
0.00001
|
|
NM_003673.4(TCAP):c.169T>C (p.Cys57Arg)
|
rs886042772
|
0.00001
|
|
NM_003673.4(TCAP):c.16C>A (p.Leu6Met)
|
rs201664428
|
0.00001
|
|
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)
|
rs869025530
|
0.00001
|
|
NM_003680.4(YARS1):c.1279A>C (p.Lys427Gln)
|
rs1653003612
|
0.00001
|
|
NM_003718.5(CDK13):c.2996G>A (p.Arg999Gln)
|
rs747924178
|
0.00001
|
|
NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met)
|
rs761120542
|
0.00001
|
|
NM_003718.5(CDK13):c.850A>G (p.Lys284Glu)
|
rs1224616211
|
0.00001
|
|
NM_003728.4(UNC5C):c.2578C>A (p.Gln860Lys)
|
rs773288996
|
0.00001
|
|
NM_003737.4(DCHS1):c.2501G>A (p.Arg834Gln)
|
rs751555542
|
0.00001
|
|
NM_003737.4(DCHS1):c.2522C>T (p.Ala841Val)
|
rs761366299
|
0.00001
|
|
NM_003737.4(DCHS1):c.4531C>G (p.Leu1511Val)
|
rs1181160706
|
0.00001
|
|
NM_003737.4(DCHS1):c.6929G>C (p.Trp2310Ser)
|
rs1025172940
|
0.00001
|
|
NM_003737.4(DCHS1):c.7645C>T (p.Arg2549Trp)
|
rs372668967
|
0.00001
|
|
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser)
|
rs779477101
|
0.00001
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
0.00001
|
|
NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)
|
rs1857891935
|
0.00001
|
|
NM_003803.4(MYOM1):c.5020G>A (p.Ala1674Thr)
|
rs761995377
|
0.00001
|
|
NM_003839.4(TNFRSF11A):c.1781G>C (p.Gly594Ala)
|
rs1327902424
|
0.00001
|
|
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile)
|
rs749136654
|
0.00001
|
|
NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)
|
rs754731265
|
0.00001
|
|
NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)
|
rs767999493
|
0.00001
|
|
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn)
|
rs1332400265
|
0.00001
|
|
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
|
rs746444024
|
0.00001
|
|
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
|
NM_003906.5(MCM3AP):c.3452G>A (p.Arg1151Gln)
|
rs771330017
|
0.00001
|
|
NM_003919.3(SGCE):c.1065-3T>C
|
rs965437968
|
0.00001
|
|
NM_003919.3(SGCE):c.232+4T>C
|
rs372244157
|
0.00001
|
|
NM_003919.3(SGCE):c.617A>G (p.Asp206Gly)
|
rs727504150
|
0.00001
|
|
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn)
|
rs781326840
|
0.00001
|
|
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)
|
rs2484945130
|
0.00001
|
|
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser)
|
rs757835571
|
0.00001
|
|
NM_003919.3(SGCE):c.934G>A (p.Asp312Asn)
|
rs775727447
|
0.00001
|
|
NM_003922.4(HERC1):c.28C>G (p.Leu10Val)
|
rs756786870
|
0.00001
|
|
NM_003922.4(HERC1):c.9900T>A (p.Asn3300Lys)
|
rs781291104
|
0.00001
|
|
NM_003923.3(FOXH1):c.89G>A (p.Arg30Gln)
|
rs1825128414
|
0.00001
|
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
|
NM_003937.3(KYNU):c.1041G>A (p.Glu347=)
|
rs1483044652
|
0.00001
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
rs1865898202
|
0.00001
|
|
NM_004004.6(GJB2):c.293G>A (p.Arg98Gln)
|
rs771053295
|
0.00001
|
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
|
NM_004006.3(DMD):c.10666G>A (p.Ala3556Thr)
|
rs2036843971
|
0.00001
|
|
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)
|
rs935091512
|
0.00001
|
|
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)
|
rs376238937
|
0.00001
|
|
NM_004006.3(DMD):c.2012C>G (p.Thr671Ser)
|
rs1198697689
|
0.00001
|
|
NM_004006.3(DMD):c.2079G>T (p.Gln693His)
|
rs761441684
|
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.2492A>T (p.Asn831Ile)
|
rs2042985183
|
0.00001
|
|
NM_004006.3(DMD):c.2530C>G (p.Gln844Glu)
|
rs768892830
|
0.00001
|
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
|
NM_004006.3(DMD):c.2635C>T (p.Arg879Trp)
|
rs1603634614
|
0.00001
|
|
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)
|
rs886043493
|
0.00001
|
|
NM_004006.3(DMD):c.377A>G (p.Asn126Ser)
|
rs1185901766
|
0.00001
|
|
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)
|
rs755835144
|
0.00001
|
|
NM_004006.3(DMD):c.4409G>A (p.Arg1470His)
|
rs752129019
|
0.00001
|
|
NM_004006.3(DMD):c.4910C>T (p.Ala1637Val)
|
rs1285159164
|
0.00001
|
|
NM_004006.3(DMD):c.5236G>A (p.Gly1746Ser)
|
rs1305126237
|
0.00001
|
|
NM_004006.3(DMD):c.5368A>G (p.Ile1790Val)
|
rs886043883
|
0.00001
|
|
NM_004006.3(DMD):c.5457C>A (p.Asp1819Glu)
|
rs1360206259
|
0.00001
|
|
NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)
|
rs752774864
|
0.00001
|
|
NM_004006.3(DMD):c.5789G>A (p.Arg1930His)
|
rs759051688
|
0.00001
|
|
NM_004006.3(DMD):c.6028G>T (p.Ala2010Ser)
|
rs72468613
|
0.00001
|
|
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln)
|
rs756696562
|
0.00001
|
|
NM_004006.3(DMD):c.6194G>T (p.Ser2065Ile)
|
rs767872954
|
0.00001
|
|
NM_004006.3(DMD):c.6196G>A (p.Ala2066Thr)
|
rs1468473458
|
0.00001
|
|
NM_004006.3(DMD):c.6296T>C (p.Phe2099Ser)
|
rs1229763776
|
0.00001
|
|
NM_004006.3(DMD):c.6806A>G (p.Gln2269Arg)
|
rs2094829116
|
0.00001
|
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
|
NM_004006.3(DMD):c.7065C>A (p.Asn2355Lys)
|
rs759570455
|
0.00001
|
|
NM_004006.3(DMD):c.7375C>G (p.Leu2459Val)
|
rs867040444
|
0.00001
|
|
NM_004006.3(DMD):c.7498G>A (p.Val2500Met)
|
rs2090506459
|
0.00001
|
|
NM_004006.3(DMD):c.7543-5967T>C
|
rs926114857
|
0.00001
|
|
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)
|
rs747127624
|
0.00001
|
|
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)
|
rs972664841
|
0.00001
|
|
NM_004006.3(DMD):c.8056G>C (p.Glu2686Gln)
|
rs1569140347
|
0.00001
|
|
NM_004006.3(DMD):c.8218-41073A>T
|
rs1054290290
|
0.00001
|
|
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)
|
rs772732788
|
0.00001
|
|
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)
|
rs965718917
|
0.00001
|
|
NM_004006.3(DMD):c.8617C>G (p.Leu2873Val)
|
rs2068037393
|
0.00001
|
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
|
NM_004006.3(DMD):c.8938-6593T>C
|
rs1322034016
|
0.00001
|
|
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)
|
rs778961643
|
0.00001
|
|
NM_004006.3(DMD):c.969A>T (p.Glu323Asp)
|
rs774626343
|
0.00001
|
|
NM_004006.3(DMD):c.985T>A (p.Ser329Thr)
|
rs756590471
|
0.00001
|
|
NM_004035.7(ACOX1):c.1101G>A (p.Leu367=)
|
rs186993093
|
0.00001
|
|
NM_004035.7(ACOX1):c.1315T>C (p.Tyr439His)
|
rs778989326
|
0.00001
|
|
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His)
|
rs369129714
|
0.00001
|
|
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala)
|
rs745657856
|
0.00001
|
|
NM_004092.4(ECHS1):c.213G>A (p.Gln71=)
|
rs765131350
|
0.00001
|
|
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)
|
rs962504241
|
0.00001
|
|
NM_004100.5(EYA4):c.40A>G (p.Lys14Glu)
|
rs552148856
|
0.00001
|
|
NM_004104.5(FASN):c.6818G>A (p.Cys2273Tyr)
|
rs2033971724
|
0.00001
|
|
NM_004113.6(FGF12):c.14-47562G>A
|
rs764199433
|
0.00001
|
|
NM_004115.4(FGF14):c.256C>A (p.His86Asn)
|
rs758950207
|
0.00001
|
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
|
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr)
|
rs1022532582
|
0.00001
|
|
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
|
rs763488470
|
0.00001
|
|
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
|
rs766885690
|
0.00001
|
|
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
|
rs758739605
|
0.00001
|
|
NM_004172.5(SLC1A3):c.1025G>A (p.Arg342Gln)
|
rs780762087
|
0.00001
|
|
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr)
|
rs145397429
|
0.00001
|
|
NM_004179.3(TPH1):c.1183C>T (p.Arg395Cys)
|
rs781553513
|
0.00001
|
|
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp)
|
rs370060257
|
0.00001
|
|
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His)
|
rs782413552
|
0.00001
|
|
NM_004211.5(SLC6A5):c.863A>G (p.Asn288Ser)
|
rs765126043
|
0.00001
|
|
NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile)
|
rs139141533
|
0.00001
|
|
NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr)
|
rs764121005
|
0.00001
|
|
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp)
|
rs1230495188
|
0.00001
|
|
NM_004260.4(RECQL4):c.1538A>G (p.Gln513Arg)
|
rs759124032
|
0.00001
|
|
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val)
|
rs1259051495
|
0.00001
|
|
NM_004260.4(RECQL4):c.512G>A (p.Arg171Gln)
|
rs770777125
|
0.00001
|
|
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys)
|
rs768613403
|
0.00001
|
|
NM_004281.4(BAG3):c.1570A>G (p.Ile524Val)
|
rs764925485
|
0.00001
|
|
NM_004281.4(BAG3):c.1637A>T (p.His546Leu)
|
rs1334550097
|
0.00001
|
|
NM_004281.4(BAG3):c.1673C>T (p.Ala558Val)
|
rs185537639
|
0.00001
|
|
NM_004281.4(BAG3):c.1720G>T (p.Ala574Ser)
|
rs779083262
|
0.00001
|
|
NM_004281.4(BAG3):c.482A>G (p.Gln161Arg)
|
rs1338639352
|
0.00001
|
|
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe)
|
rs1482925321
|
0.00001
|
|
NM_004281.4(BAG3):c.830A>T (p.Glu277Val)
|
rs762471704
|
0.00001
|
|
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
|
rs759915726
|
0.00001
|
|
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser)
|
rs762376423
|
0.00001
|
|
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
|
rs2087306731
|
0.00001
|
|
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)
|
rs374613085
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys)
|
rs762220295
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala)
|
rs1203169806
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser)
|
rs1258517686
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp)
|
rs376651574
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser)
|
rs200872921
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr)
|
rs1449029475
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)
|
rs1245306352
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)
|
rs1567490455
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)
|
rs1299310866
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile)
|
rs759217913
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)
|
rs1203742133
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile)
|
rs866421756
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr)
|
rs200376448
|
0.00001
|
|
NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)
|
rs764640218
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys)
|
rs754020765
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser)
|
rs751510265
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2545G>A (p.Val849Met)
|
rs748956350
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile)
|
rs779823220
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2980G>A (p.Gly994Arg)
|
rs1964150293
|
0.00001
|
|
NM_004320.6(ATP2A1):c.401G>A (p.Arg134His)
|
rs1963516429
|
0.00001
|
|
NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)
|
rs933059972
|
0.00001
|
|
NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)
|
rs1449469340
|
0.00001
|
|
NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)
|
rs1379925787
|
0.00001
|
|
NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val)
|
rs769354145
|
0.00001
|
|
NM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp)
|
rs771239706
|
0.00001
|
|
NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)
|
rs759109980
|
0.00001
|
|
NM_004329.3(BMPR1A):c.142G>A (p.Val48Ile)
|
rs775188308
|
0.00001
|
|
NM_004329.3(BMPR1A):c.364A>G (p.Ile122Val)
|
rs1310807915
|
0.00001
|
|
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr)
|
rs370372528
|
0.00001
|
|
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala)
|
rs1379627026
|
0.00001
|
|
NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp)
|
rs778697476
|
0.00001
|
|
NM_004366.6(CLCN2):c.758C>T (p.Ala253Val)
|
rs1173897230
|
0.00001
|
|
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp)
|
rs200720222
|
0.00001
|
|
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)
|
rs1416475329
|
0.00001
|
|
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg)
|
rs200795795
|
0.00001
|
|
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)
|
rs572020866
|
0.00001
|
|
NM_004369.4(COL6A3):c.128T>C (p.Leu43Pro)
|
rs2106388857
|
0.00001
|
|
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)
|
rs377757978
|
0.00001
|
|
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)
|
rs777693832
|
0.00001
|
|
NM_004369.4(COL6A3):c.1510A>G (p.Thr504Ala)
|
rs1191274289
|
0.00001
|
|
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys)
|
rs1278327904
|
0.00001
|
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
|
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)
|
rs777409908
|
0.00001
|
|
NM_004369.4(COL6A3):c.194T>C (p.Val65Ala)
|
rs1184389502
|
0.00001
|
|
NM_004369.4(COL6A3):c.2035G>T (p.Gly679Cys)
|
rs201031137
|
0.00001
|
|
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
|
rs1439968667
|
0.00001
|
|
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)
|
rs116753562
|
0.00001
|
|
NM_004369.4(COL6A3):c.2476G>A (p.Glu826Lys)
|
rs1193723586
|
0.00001
|
|
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
|
rs752748927
|
0.00001
|
|
NM_004369.4(COL6A3):c.2566C>T (p.Arg856Cys)
|
rs1039764953
|
0.00001
|
|
NM_004369.4(COL6A3):c.2612A>C (p.Glu871Ala)
|
rs765377298
|
0.00001
|
|
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly)
|
rs1326943912
|
0.00001
|
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
0.00001
|
|
NM_004369.4(COL6A3):c.290G>A (p.Arg97His)
|
rs201249839
|
0.00001
|
|
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr)
|
rs768292803
|
0.00001
|
|
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)
|
rs763515820
|
0.00001
|
|
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)
|
rs140437593
|
0.00001
|
|
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)
|
rs758482171
|
0.00001
|
|
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
|
rs946039945
|
0.00001
|
|
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser)
|
rs1465296993
|
0.00001
|
|
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile)
|
rs761490778
|
0.00001
|
|
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)
|
rs373915980
|
0.00001
|
|
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp)
|
rs745854120
|
0.00001
|
|
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile)
|
rs199964760
|
0.00001
|
|
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)
|
rs762240306
|
0.00001
|
|
NM_004369.4(COL6A3):c.3579G>T (p.Gln1193His)
|
rs772660737
|
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.3737C>T (p.Pro1246Leu)
|
rs1276235131
|
0.00001
|
|
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)
|
rs781735632
|
0.00001
|
|
NM_004369.4(COL6A3):c.3824A>G (p.Gln1275Arg)
|
rs2077709959
|
0.00001
|
|
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)
|
rs762544728
|
0.00001
|
|
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)
|
rs779126378
|
0.00001
|
|
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu)
|
rs767829363
|
0.00001
|
|
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val)
|
rs780669785
|
0.00001
|
|
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)
|
rs539986030
|
0.00001
|
|
NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly)
|
rs1286385833
|
0.00001
|
|
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
|
rs748650105
|
0.00001
|
|
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=)
|
rs779603740
|
0.00001
|
|
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)
|
rs114736729
|
0.00001
|
|
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)
|
rs773979979
|
0.00001
|
|
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
|
rs1164189369
|
0.00001
|
|
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn)
|
rs904372024
|
0.00001
|
|
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val)
|
rs778808432
|
0.00001
|
|
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)
|
rs149261556
|
0.00001
|
|
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val)
|
rs941055048
|
0.00001
|
|
NM_004369.4(COL6A3):c.5041G>C (p.Val1681Leu)
|
rs758719329
|
0.00001
|
|
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)
|
rs779425587
|
0.00001
|
|
NM_004369.4(COL6A3):c.514G>A (p.Val172Met)
|
rs1270503233
|
0.00001
|
|
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)
|
rs756781502
|
0.00001
|
|
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser)
|
rs750040219
|
0.00001
|
|
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val)
|
rs747200439
|
0.00001
|
|
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
|
rs763172498
|
0.00001
|
|
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
|
rs1474166955
|
0.00001
|
|
NM_004369.4(COL6A3):c.6070A>G (p.Ile2024Val)
|
rs113418871
|
0.00001
|
|
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
|
rs746424031
|
0.00001
|
|
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
|
rs770907851
|
0.00001
|
|
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
|
rs568208338
|
0.00001
|
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
|
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
|
rs773235743
|
0.00001
|
|
NM_004369.4(COL6A3):c.6703C>T (p.Pro2235Ser)
|
rs369948687
|
0.00001
|
|
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu)
|
rs773775745
|
0.00001
|
|
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
|
rs557578629
|
0.00001
|
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
|
NM_004369.4(COL6A3):c.70C>T (p.His24Tyr)
|
rs769211133
|
0.00001
|
|
NM_004369.4(COL6A3):c.7226C>T (p.Thr2409Ile)
|
rs1429525687
|
0.00001
|
|
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)
|
rs749446863
|
0.00001
|
|
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln)
|
rs748029252
|
0.00001
|
|
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val)
|
rs1462967965
|
0.00001
|
|
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln)
|
rs753090057
|
0.00001
|
|
NM_004369.4(COL6A3):c.7744C>T (p.Leu2582Phe)
|
rs780850057
|
0.00001
|
|
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg)
|
rs886044041
|
0.00001
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
0.00001
|
|
NM_004369.4(COL6A3):c.8073C>A (p.Asp2691Glu)
|
rs886042689
|
0.00001
|
|
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)
|
rs775200499
|
0.00001
|
|
NM_004369.4(COL6A3):c.8515T>A (p.Phe2839Ile)
|
rs1212048474
|
0.00001
|
|
NM_004369.4(COL6A3):c.8519A>C (p.Gln2840Pro)
|
rs988119862
|
0.00001
|
|
NM_004369.4(COL6A3):c.8549A>G (p.Lys2850Arg)
|
rs926044279
|
0.00001
|
|
NM_004369.4(COL6A3):c.8579A>G (p.Asn2860Ser)
|
rs992173031
|
0.00001
|
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
|
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)
|
rs759009226
|
0.00001
|
|
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala)
|
rs1218467207
|
0.00001
|
|
NM_004369.4(COL6A3):c.8972T>A (p.Met2991Lys)
|
rs752116510
|
0.00001
|
|
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)
|
rs745651769
|
0.00001
|
|
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)
|
rs376939353
|
0.00001
|
|
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His)
|
rs760496428
|
0.00001
|
|
NM_004369.4(COL6A3):c.9332T>C (p.Ile3111Thr)
|
rs771376763
|
0.00001
|
|
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys)
|
rs755613566
|
0.00001
|
|
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu)
|
rs371468515
|
0.00001
|
|
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro)
|
rs779083996
|
0.00001
|
|
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)
|
rs370952607
|
0.00001
|
|
NM_004370.6(COL12A1):c.1210G>A (p.Val404Ile)
|
rs946425531
|
0.00001
|
|
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His)
|
rs762385473
|
0.00001
|
|
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
|
rs1028351058
|
0.00001
|
|
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
|
rs543760014
|
0.00001
|
|
NM_004370.6(COL12A1):c.1633A>G (p.Met545Val)
|
rs368489584
|
0.00001
|
|
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)
|
rs557804521
|
0.00001
|
|
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)
|
rs538463802
|
0.00001
|
|
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)
|
rs775466928
|
0.00001
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
rs1371486094
|
0.00001
|
|
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
|
rs1244301771
|
0.00001
|
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
|
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)
|
rs769631929
|
0.00001
|
|
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)
|
rs770970810
|
0.00001
|
|
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
|
rs754065322
|
0.00001
|
|
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser)
|
rs944768236
|
0.00001
|
|
NM_004370.6(COL12A1):c.2977A>G (p.Thr993Ala)
|
rs946004106
|
0.00001
|
|
NM_004370.6(COL12A1):c.2984-3C>T
|
rs1394199507
|
0.00001
|
|
NM_004370.6(COL12A1):c.311T>C (p.Val104Ala)
|
rs751250522
|
0.00001
|
|
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
|
rs368153032
|
0.00001
|
|
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
|
rs746620811
|
0.00001
|
|
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)
|
rs1767653671
|
0.00001
|
|
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)
|
rs774035582
|
0.00001
|
|
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
|
rs762126901
|
0.00001
|
|
NM_004370.6(COL12A1):c.3886A>G (p.Met1296Val)
|
rs746366215
|
0.00001
|
|
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val)
|
rs371419803
|
0.00001
|
|
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys)
|
rs1405840866
|
0.00001
|
|
NM_004370.6(COL12A1):c.441C>T (p.Gly147=)
|
rs370007721
|
0.00001
|
|
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)
|
rs750010185
|
0.00001
|
|
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)
|
rs760640025
|
0.00001
|
|
NM_004370.6(COL12A1):c.4637A>T (p.Gln1546Leu)
|
rs1027746676
|
0.00001
|
|
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)
|
rs76453279
|
0.00001
|
|
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)
|
rs754277446
|
0.00001
|
|
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)
|
rs750426294
|
0.00001
|
|
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)
|
rs1239883407
|
0.00001
|
|
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val)
|
rs1416074718
|
0.00001
|
|
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)
|
rs768824483
|
0.00001
|
|
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)
|
rs181357263
|
0.00001
|
|
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)
|
rs1023244422
|
0.00001
|
|
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
|
rs1766232125
|
0.00001
|
|
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)
|
rs186836845
|
0.00001
|
|
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)
|
rs776701367
|
0.00001
|
|
NM_004370.6(COL12A1):c.658+3A>G
|
rs1024663622
|
0.00001
|
|
NM_004370.6(COL12A1):c.6607+3G>A
|
rs1765949947
|
0.00001
|
|
NM_004370.6(COL12A1):c.7108G>A (p.Asp2370Asn)
|
rs764573448
|
0.00001
|
|
NM_004370.6(COL12A1):c.7463C>G (p.Ser2488Cys)
|
rs1309386396
|
0.00001
|
|
NM_004370.6(COL12A1):c.7616G>A (p.Gly2539Glu)
|
rs1437064612
|
0.00001
|
|
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
|
rs1258548128
|
0.00001
|
|
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)
|
rs780133855
|
0.00001
|
|
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu)
|
rs775522044
|
0.00001
|
|
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg)
|
rs770613686
|
0.00001
|
|
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
|
rs1263587165
|
0.00001
|
|
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys)
|
rs1384761865
|
0.00001
|
|
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile)
|
rs775684324
|
0.00001
|
|
NM_004370.6(COL12A1):c.7930T>C (p.Phe2644Leu)
|
rs575538052
|
0.00001
|
|
NM_004370.6(COL12A1):c.811G>T (p.Val271Phe)
|
rs1769795897
|
0.00001
|
|
NM_004370.6(COL12A1):c.8170C>T (p.Pro2724Ser)
|
rs766567574
|
0.00001
|
|
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)
|
rs749287325
|
0.00001
|
|
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr)
|
rs1768489455
|
0.00001
|
|
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
|
rs2533103490
|
0.00001
|
|
NM_004370.6(COL12A1):c.8470-3C>A
|
rs1169467662
|
0.00001
|
|
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)
|
rs779184954
|
0.00001
|
|
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)
|
rs1226171594
|
0.00001
|
|
NM_004370.6(COL12A1):c.8707A>T (p.Met2903Leu)
|
rs760970675
|
0.00001
|
|
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His)
|
rs748714098
|
0.00001
|
|
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
|
rs1324562194
|
0.00001
|
|
NM_004380.3(CREBBP):c.2365G>A (p.Ala789Thr)
|
rs746728741
|
0.00001
|
|
NM_004380.3(CREBBP):c.3250+4G>A
|
rs1301154478
|
0.00001
|
|
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile)
|
rs774047746
|
0.00001
|
|
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
|
rs773030588
|
0.00001
|
|
NM_004380.3(CREBBP):c.787G>A (p.Gly263Ser)
|
rs768097716
|
0.00001
|
|
NM_004380.3(CREBBP):c.793G>A (p.Ala265Thr)
|
rs753319377
|
0.00001
|
|
NM_004385.5(VCAN):c.3540A>G (p.Leu1180=)
|
rs141764458
|
0.00001
|
|
NM_004385.5(VCAN):c.4292G>A (p.Arg1431His)
|
rs747887033
|
0.00001
|
|
NM_004387.4(NKX2-5):c.647G>A (p.Arg216His)
|
rs1201267220
|
0.00001
|
|
NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala)
|
rs1553652891
|
0.00001
|
|
NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)
|
rs773167280
|
0.00001
|
|
NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)
|
rs747566297
|
0.00001
|
|
NM_004393.6(DAG1):c.1462C>T (p.Pro488Ser)
|
rs755443084
|
0.00001
|
|
NM_004393.6(DAG1):c.1466G>A (p.Arg489His)
|
rs373379560
|
0.00001
|
|
NM_004393.6(DAG1):c.148A>G (p.Met50Val)
|
rs758104540
|
0.00001
|
|
NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr)
|
rs1469319860
|
0.00001
|
|
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys)
|
rs142703906
|
0.00001
|
|
NM_004393.6(DAG1):c.1588A>G (p.Thr530Ala)
|
rs1312376714
|
0.00001
|
|
NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln)
|
rs1425201998
|
0.00001
|
|
NM_004393.6(DAG1):c.1720G>A (p.Glu574Lys)
|
rs1343992822
|
0.00001
|
|
NM_004393.6(DAG1):c.1728C>A (p.Phe576Leu)
|
rs1360231774
|
0.00001
|
|
NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro)
|
rs772951856
|
0.00001
|
|
NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys)
|
rs759029561
|
0.00001
|
|
NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys)
|
rs750567574
|
0.00001
|
|
NM_004393.6(DAG1):c.1793G>A (p.Arg598His)
|
rs201268364
|
0.00001
|
|
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg)
|
rs200798800
|
0.00001
|
|
NM_004393.6(DAG1):c.1946A>G (p.Asn649Ser)
|
rs1575413235
|
0.00001
|
|
NM_004393.6(DAG1):c.2308A>G (p.Ile770Val)
|
rs1427220472
|
0.00001
|
|
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu)
|
rs199501149
|
0.00001
|
|
NM_004393.6(DAG1):c.2486C>T (p.Pro829Leu)
|
rs781644679
|
0.00001
|
|
NM_004393.6(DAG1):c.2506G>A (p.Val836Met)
|
rs2472665631
|
0.00001
|
|
NM_004393.6(DAG1):c.2647A>G (p.Met883Val)
|
rs754908618
|
0.00001
|
|
NM_004393.6(DAG1):c.284A>G (p.Lys95Arg)
|
rs754748374
|
0.00001
|
|
NM_004393.6(DAG1):c.375T>A (p.Asp125Glu)
|
rs2051321721
|
0.00001
|
|
NM_004393.6(DAG1):c.403G>T (p.Ala135Ser)
|
rs774419205
|
0.00001
|
|
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr)
|
rs772976299
|
0.00001
|
|
NM_004393.6(DAG1):c.643C>T (p.Arg215Trp)
|
rs562046526
|
0.00001
|
|
NM_004393.6(DAG1):c.644G>A (p.Arg215Gln)
|
rs144753260
|
0.00001
|
|
NM_004393.6(DAG1):c.659T>C (p.Val220Ala)
|
rs998718075
|
0.00001
|
|
NM_004393.6(DAG1):c.898G>A (p.Ala300Thr)
|
rs1346504256
|
0.00001
|
|
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln)
|
rs752813826
|
0.00001
|
|
NM_004393.6(DAG1):c.945T>G (p.His315Gln)
|
rs1043047305
|
0.00001
|
|
NM_004393.6(DAG1):c.947C>G (p.Ala316Gly)
|
rs1477644260
|
0.00001
|
|
NM_004397.6(DDX6):c.151A>G (p.Ile51Val)
|
rs1862065272
|
0.00001
|
|
NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)
|
rs1057060383
|
0.00001
|
|
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)
|
rs750296552
|
0.00001
|
|
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
|
rs763130063
|
0.00001
|
|
NM_004409.5(DMPK):c.983G>A (p.Gly328Asp)
|
rs750614096
|
0.00001
|
|
NM_004415.4(DSP):c.2519C>T (p.Ser840Phe)
|
rs1349797680
|
0.00001
|
|
NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)
|
rs765831604
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
|
NM_004440.4(EPHA7):c.1547G>A (p.Arg516Gln)
|
rs2127877543
|
0.00001
|
|
NM_004444.5(EPHB4):c.2350A>G (p.Ile784Val)
|
rs957116019
|
0.00001
|
|
NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly)
|
rs1922164339
|
0.00001
|
|
NM_004463.3(FGD1):c.486C>A (p.Pro162=)
|
rs759337933
|
0.00001
|
|
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
|
rs782143488
|
0.00001
|
|
NM_004517.4(ILK):c.520C>T (p.Arg174Cys)
|
rs201671181
|
0.00001
|
|
NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr)
|
rs745463637
|
0.00001
|
|
NM_004525.3(LRP2):c.1978A>G (p.Thr660Ala)
|
rs556737893
|
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_004558.5(NRTN):c.95G>A (p.Arg32His)
|
rs200288783
|
0.00001
|
|
NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys)
|
rs186571882
|
0.00001
|
|
NM_004562.3(PRKN):c.310C>T (p.Arg104Trp)
|
rs769099303
|
0.00001
|
|
NM_004586.3(RPS6KA3):c.1960-3C>T
|
rs1207197365
|
0.00001
|
|
NM_004588.5(SCN2B):c.*5T>G
|
rs776350272
|
0.00001
|
|
NM_004588.5(SCN2B):c.86G>A (p.Ser29Asn)
|
rs760543488
|
0.00001
|
|
NM_004606.5(TAF1):c.340C>G (p.Leu114Val)
|
rs2032709322
|
0.00001
|
|
NM_004606.5(TAF1):c.5438C>T (p.Thr1813Ile)
|
rs1406354590
|
0.00001
|
|
NM_004606.5(TAF1):c.550A>G (p.Ser184Gly)
|
rs1051551145
|
0.00001
|
|
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)
|
rs1826374374
|
0.00001
|
|
NM_004614.5(TK2):c.156+6T>G
|
rs758270948
|
0.00001
|
|
NM_004614.5(TK2):c.310C>T (p.Arg104Cys)
|
rs1194187379
|
0.00001
|
|
NM_004618.5(TOP3A):c.1878-550T>C
|
rs1567736773
|
0.00001
|
|
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met)
|
rs200772226
|
0.00001
|
|
NM_004628.5(XPC):c.806C>G (p.Ala269Gly)
|
rs899696695
|
0.00001
|
|
NM_004628.5(XPC):c.940C>T (p.Arg314Trp)
|
rs914274804
|
0.00001
|
|
NM_004629.2(FANCG):c.1473A>G (p.Lys491=)
|
rs769921972
|
0.00001
|
|
NM_004643.4(PABPN1):c.169C>T (p.Pro57Ser)
|
rs886042198
|
0.00001
|
|
NM_004643.4(PABPN1):c.26C>T (p.Ala9Val)
|
rs1433496791
|
0.00001
|
|
NM_004643.4(PABPN1):c.481A>G (p.Met161Val)
|
rs1159070981
|
0.00001
|
|
NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr)
|
rs781420585
|
0.00001
|
|
NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu)
|
rs1973129439
|
0.00001
|
|
NM_004655.4(AXIN2):c.161A>G (p.Asn54Ser)
|
rs876661194
|
0.00001
|
|
NM_004655.4(AXIN2):c.1889G>A (p.Ser630Asn)
|
rs578156841
|
0.00001
|
|
NM_004656.4(BAP1):c.1630A>G (p.Ile544Val)
|
rs1705040492
|
0.00001
|
|
NM_004667.6(HERC2):c.12416C>T (p.Ala4139Val)
|
rs200811930
|
0.00001
|
|
NM_004667.6(HERC2):c.13272+5C>T
|
rs780539733
|
0.00001
|
|
NM_004667.6(HERC2):c.2655C>T (p.Ala885=)
|
rs1425378356
|
0.00001
|
|
NM_004667.6(HERC2):c.4590A>G (p.Ile1530Met)
|
rs913539016
|
0.00001
|
|
NM_004667.6(HERC2):c.5453T>C (p.Leu1818Pro)
|
rs763679248
|
0.00001
|
|
NM_004667.6(HERC2):c.612C>T (p.Ala204=)
|
rs377405907
|
0.00001
|
|
NM_004667.6(HERC2):c.6748C>T (p.Arg2250Trp)
|
rs1464913713
|
0.00001
|
|
NM_004667.6(HERC2):c.9657G>A (p.Ala3219=)
|
rs1426667097
|
0.00001
|
|
NM_004667.6(HERC2):c.9824C>T (p.Ser3275Leu)
|
rs754854681
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu)
|
rs887762794
|
0.00001
|
|
NM_004714.3(DYRK1B):c.1269G>T (p.Leu423=)
|
rs762392475
|
0.00001
|
|
NM_004722.4(AP4M1):c.1044C>T (p.Ser348=)
|
rs746663793
|
0.00001
|
|
NM_004736.4(XPR1):c.66T>C (p.Tyr22=)
|
rs757202895
|
0.00001
|
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
|
NM_004826.4(ECEL1):c.1477G>A (p.Ala493Thr)
|
rs763859873
|
0.00001
|
|
NM_004826.4(ECEL1):c.98T>A (p.Leu33Gln)
|
rs751511233
|
0.00001
|
|
NM_004840.3(ARHGEF6):c.1373T>C (p.Val458Ala)
|
rs1481570865
|
0.00001
|
|
NM_004855.5(PIGB):c.1594C>T (p.Arg532Ter)
|
rs367927367
|
0.00001
|
|
NM_004859.4(CLTC):c.118A>G (p.Ile40Val)
|
rs747158962
|
0.00001
|
|
NM_004863.4(SPTLC2):c.161T>C (p.Leu54Pro)
|
rs1803505662
|
0.00001
|
|
NM_004946.3(DOCK2):c.3986A>G (p.Tyr1329Cys)
|
rs766635884
|
0.00001
|
|
NM_004947.5(DOCK3):c.1868T>C (p.Met623Thr)
|
rs763256605
|
0.00001
|
|
NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser)
|
rs1647432818
|
0.00001
|
|
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)
|
rs1010993658
|
0.00001
|
|
NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile)
|
rs774791298
|
0.00001
|
|
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln)
|
rs1296710118
|
0.00001
|
|
NM_004974.4(KCNA2):c.511A>G (p.Met171Val)
|
rs773468235
|
0.00001
|
|
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)
|
rs142461221
|
0.00001
|
|
NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)
|
rs2037053416
|
0.00001
|
|
NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)
|
rs764863485
|
0.00001
|
|
NM_004984.4(KIF5A):c.1817G>A (p.Arg606Gln)
|
rs750134009
|
0.00001
|
|
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
|
rs1882398575
|
0.00001
|
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
|
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)
|
rs1875799718
|
0.00001
|
|
NM_004999.4(MYO6):c.1578G>A (p.Leu526=)
|
rs1301230202
|
0.00001
|
|
NM_004999.4(MYO6):c.2000G>A (p.Arg667His)
|
rs781769307
|
0.00001
|
|
NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)
|
rs755710465
|
0.00001
|
|
NM_005004.4(NDUFB8):c.29G>T (p.Gly10Val)
|
rs747478517
|
0.00001
|
|
NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)
|
rs1356892913
|
0.00001
|
|
NM_005027.4(PIK3R2):c.1883A>G (p.Asn628Ser)
|
rs752214616
|
0.00001
|
|
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val)
|
rs1016301486
|
0.00001
|
|
NM_005045.4(RELN):c.10131C>G (p.His3377Gln)
|
rs767876947
|
0.00001
|
|
NM_005045.4(RELN):c.4855A>G (p.Asn1619Asp)
|
rs1830750187
|
0.00001
|
|
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)
|
rs587780439
|
0.00001
|
|
NM_005045.4(RELN):c.7451T>C (p.Met2484Thr)
|
rs1402071263
|
0.00001
|
|
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)
|
rs201100662
|
0.00001
|
|
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
|
rs767691217
|
0.00001
|
|
NM_005051.3(QARS1):c.1822T>G (p.Phe608Val)
|
rs145548376
|
0.00001
|
|
NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)
|
rs1158340438
|
0.00001
|
|
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)
|
rs529117281
|
0.00001
|
|
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)
|
rs1241928450
|
0.00001
|
|
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)
|
rs370123138
|
0.00001
|
|
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
|
rs750941408
|
0.00001
|
|
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)
|
rs781724566
|
0.00001
|
|
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)
|
rs1047615316
|
0.00001
|
|
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)
|
rs148600999
|
0.00001
|
|
NM_005055.5(RAPSN):c.473A>G (p.Asp158Gly)
|
rs778976189
|
0.00001
|
|
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)
|
rs780985479
|
0.00001
|
|
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
|
rs374588028
|
0.00001
|
|
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)
|
rs747627949
|
0.00001
|
|
NM_005055.5(RAPSN):c.697A>G (p.Met233Val)
|
rs768806867
|
0.00001
|
|
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)
|
rs762865029
|
0.00001
|
|
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)
|
rs761730497
|
0.00001
|
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
|
NM_005097.4(LGI1):c.407G>A (p.Arg136Gln)
|
rs767254591
|
0.00001
|
|
NM_005113.4(GOLGA5):c.772+1G>T
|
rs1885000712
|
0.00001
|
|
NM_005120.3(MED12):c.1753C>G (p.Arg585Gly)
|
rs2092296948
|
0.00001
|
|
NM_005121.3(MED13):c.3719G>A (p.Arg1240His)
|
rs764794724
|
0.00001
|
|
NM_005121.3(MED13):c.4160G>A (p.Ser1387Asn)
|
rs2143386924
|
0.00001
|
|
NM_005121.3(MED13):c.700G>A (p.Gly234Ser)
|
rs780702262
|
0.00001
|
|
NM_005138.3(SCO2):c.490T>G (p.Phe164Val)
|
rs749910960
|
0.00001
|
|
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp)
|
rs587778155
|
0.00001
|
|
NM_005199.5(CHRNG):c.1202A>G (p.Gln401Arg)
|
rs763132076
|
0.00001
|
|
NM_005199.5(CHRNG):c.98T>C (p.Leu33Pro)
|
rs772604725
|
0.00001
|
|
NM_005219.5(DIAPH1):c.92G>C (p.Gly31Ala)
|
rs2513850956
|
0.00001
|
|
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val)
|
rs78244461
|
0.00001
|
|
NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr)
|
rs770749711
|
0.00001
|
|
NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu)
|
rs2073724646
|
0.00001
|
|
NM_005235.3(ERBB4):c.1885A>G (p.Thr629Ala)
|
rs761677465
|
0.00001
|
|
NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)
|
rs552079714
|
0.00001
|
|
NM_005245.4(FAT1):c.5794A>G (p.Lys1932Glu)
|
rs1740003599
|
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.3707C>T (p.Ala1236Val)
|
rs781908241
|
0.00001
|
|
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
|
rs1350444902
|
0.00001
|
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
|
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
|
rs782818466
|
0.00001
|
|
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
|
rs782290592
|
0.00001
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
rs782309363
|
0.00001
|
|
NM_005337.5(NCKAP1L):c.2691G>C (p.Gln897His)
|
rs2498626966
|
0.00001
|
|
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr)
|
rs727504496
|
0.00001
|
|
NM_005343.4(HRAS):c.546G>A (p.Met182Ile)
|
rs748639813
|
0.00001
|
|
NM_005359.6(SMAD4):c.119T>C (p.Ile40Thr)
|
rs939612648
|
0.00001
|
|
NM_005393.3(PLXNB3):c.1066C>T (p.Arg356Cys)
|
rs1006325245
|
0.00001
|
|
NM_005393.3(PLXNB3):c.3004C>T (p.Arg1002Cys)
|
rs782755267
|
0.00001
|
|
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
|
rs1658925952
|
0.00001
|
|
NM_005422.4(TECTA):c.1242C>G (p.Asp414Glu)
|
rs1946597477
|
0.00001
|
|
NM_005422.4(TECTA):c.1356C>T (p.Ser452=)
|
rs763431691
|
0.00001
|
|
NM_005422.4(TECTA):c.1981A>T (p.Met661Leu)
|
rs778589638
|
0.00001
|
|
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)
|
rs527976707
|
0.00001
|
|
NM_005427.4(TP73):c.1612C>T (p.Arg538Cys)
|
rs780654718
|
0.00001
|
|
NM_005431.2(XRCC2):c.733G>T (p.Asp245Tyr)
|
rs914464501
|
0.00001
|
|
NM_005458.8(GABBR2):c.146C>T (p.Pro49Leu)
|
rs760146944
|
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.2390G>A (p.Arg797His)
|
rs80137447
|
0.00001
|
|
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu)
|
rs1026022583
|
0.00001
|
|
NM_005458.8(GABBR2):c.2804G>A (p.Arg935Gln)
|
rs760225121
|
0.00001
|
|
NM_005458.8(GABBR2):c.539A>G (p.Asn180Ser)
|
rs1460917135
|
0.00001
|
|
NM_005476.7(GNE):c.1023C>A (p.Asp341Glu)
|
rs768446059
|
0.00001
|
|
NM_005476.7(GNE):c.1081T>C (p.Tyr361His)
|
rs1192630467
|
0.00001
|
|
NM_005476.7(GNE):c.1250C>T (p.Thr417Met)
|
rs1554659711
|
0.00001
|
|
NM_005476.7(GNE):c.1541T>C (p.Val514Ala)
|
rs1314457092
|
0.00001
|
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
|
NM_005476.7(GNE):c.2071G>A (p.Val691Met)
|
rs763775540
|
0.00001
|
|
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser)
|
rs758437800
|
0.00001
|
|
NM_005502.4(ABCA1):c.528T>A (p.Asp176Glu)
|
rs780811638
|
0.00001
|
|
NM_005502.4(ABCA1):c.5950G>A (p.Val1984Ile)
|
rs1397807279
|
0.00001
|
|
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)
|
rs200332825
|
0.00001
|
|
NM_005515.4(MNX1):c.145G>A (p.Gly49Arg)
|
rs1472400448
|
0.00001
|
|
NM_005529.7(HSPG2):c.10276G>A (p.Asp3426Asn)
|
rs777226788
|
0.00001
|
|
NM_005529.7(HSPG2):c.10489G>A (p.Val3497Met)
|
rs747556327
|
0.00001
|
|
NM_005529.7(HSPG2):c.10594G>A (p.Gly3532Ser)
|
rs140328908
|
0.00001
|
|
NM_005529.7(HSPG2):c.10649C>T (p.Ala3550Val)
|
rs777977385
|
0.00001
|
|
NM_005529.7(HSPG2):c.10858C>T (p.Arg3620Cys)
|
rs370504935
|
0.00001
|
|
NM_005529.7(HSPG2):c.11290C>T (p.Arg3764Cys)
|
rs751483203
|
0.00001
|
|
NM_005529.7(HSPG2):c.11429C>T (p.Ala3810Val)
|
rs935683885
|
0.00001
|
|
NM_005529.7(HSPG2):c.11629G>A (p.Gly3877Arg)
|
rs769113513
|
0.00001
|
|
NM_005529.7(HSPG2):c.12058C>T (p.Arg4020Cys)
|
rs757191314
|
0.00001
|
|
NM_005529.7(HSPG2):c.12665+3G>A
|
rs980154989
|
0.00001
|
|
NM_005529.7(HSPG2):c.12680C>T (p.Pro4227Leu)
|
rs775723776
|
0.00001
|
|
NM_005529.7(HSPG2):c.12688A>G (p.Ile4230Val)
|
rs771043879
|
0.00001
|
|
NM_005529.7(HSPG2):c.12805C>A (p.Leu4269Ile)
|
rs961539740
|
0.00001
|
|
NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter)
|
rs2097958823
|
0.00001
|
|
NM_005529.7(HSPG2):c.12989G>A (p.Gly4330Asp)
|
rs1317082117
|
0.00001
|
|
NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val)
|
rs779443131
|
0.00001
|
|
NM_005529.7(HSPG2):c.13135C>T (p.Arg4379Cys)
|
rs576049096
|
0.00001
|
|
NM_005529.7(HSPG2):c.1324C>T (p.Leu442Phe)
|
rs1356686122
|
0.00001
|
|
NM_005529.7(HSPG2):c.1734C>A (p.His578Gln)
|
rs761523501
|
0.00001
|
|
NM_005529.7(HSPG2):c.1750G>A (p.Asp584Asn)
|
rs746499380
|
0.00001
|
|
NM_005529.7(HSPG2):c.2072C>A (p.Ala691Asp)
|
rs1030255001
|
0.00001
|
|
NM_005529.7(HSPG2):c.2521G>A (p.Ala841Thr)
|
rs1641276054
|
0.00001
|
|
NM_005529.7(HSPG2):c.2654T>C (p.Met885Thr)
|
rs1426721029
|
0.00001
|
|
NM_005529.7(HSPG2):c.2996G>A (p.Gly999Glu)
|
rs139374562
|
0.00001
|
|
NM_005529.7(HSPG2):c.3028C>T (p.Arg1010Cys)
|
rs377016014
|
0.00001
|
|
NM_005529.7(HSPG2):c.3054G>C (p.Gln1018His)
|
rs898599613
|
0.00001
|
|
NM_005529.7(HSPG2):c.3077G>C (p.Gly1026Ala)
|
rs1187364643
|
0.00001
|
|
NM_005529.7(HSPG2):c.3290C>A (p.Pro1097His)
|
rs2550763838
|
0.00001
|
|
NM_005529.7(HSPG2):c.3391G>A (p.Gly1131Arg)
|
rs767221837
|
0.00001
|
|
NM_005529.7(HSPG2):c.3473G>A (p.Arg1158His)
|
rs369106960
|
0.00001
|
|
NM_005529.7(HSPG2):c.4064G>C (p.Gly1355Ala)
|
rs1448153387
|
0.00001
|
|
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=)
|
rs540961117
|
0.00001
|
|
NM_005529.7(HSPG2):c.4360C>T (p.Pro1454Ser)
|
rs1172091230
|
0.00001
|
|
NM_005529.7(HSPG2):c.4378G>A (p.Glu1460Lys)
|
rs947475856
|
0.00001
|
|
NM_005529.7(HSPG2):c.4570G>A (p.Ala1524Thr)
|
rs757196466
|
0.00001
|
|
NM_005529.7(HSPG2):c.4648C>T (p.Arg1550Cys)
|
rs1317669197
|
0.00001
|
|
NM_005529.7(HSPG2):c.4936A>G (p.Thr1646Ala)
|
rs770509712
|
0.00001
|
|
NM_005529.7(HSPG2):c.5594C>T (p.Ala1865Val)
|
rs773237789
|
0.00001
|
|
NM_005529.7(HSPG2):c.560G>A (p.Arg187Gln)
|
rs374500978
|
0.00001
|
|
NM_005529.7(HSPG2):c.5638G>A (p.Gly1880Arg)
|
rs755793917
|
0.00001
|
|
NM_005529.7(HSPG2):c.5656C>T (p.Arg1886Cys)
|
rs566129415
|
0.00001
|
|
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg)
|
rs758801322
|
0.00001
|
|
NM_005529.7(HSPG2):c.6469G>A (p.Glu2157Lys)
|
rs775573796
|
0.00001
|
|
NM_005529.7(HSPG2):c.6484C>T (p.His2162Tyr)
|
rs757056213
|
0.00001
|
|
NM_005529.7(HSPG2):c.6518G>A (p.Cys2173Tyr)
|
rs1254179505
|
0.00001
|
|
NM_005529.7(HSPG2):c.6563G>A (p.Arg2188His)
|
rs780836968
|
0.00001
|
|
NM_005529.7(HSPG2):c.6727C>A (p.Pro2243Thr)
|
rs780554105
|
0.00001
|
|
NM_005529.7(HSPG2):c.6763A>G (p.Thr2255Ala)
|
rs757535359
|
0.00001
|
|
NM_005529.7(HSPG2):c.7919C>T (p.Thr2640Met)
|
rs374605446
|
0.00001
|
|
NM_005529.7(HSPG2):c.7999G>T (p.Gly2667Trp)
|
rs768427974
|
0.00001
|
|
NM_005529.7(HSPG2):c.814C>G (p.Pro272Ala)
|
rs1642003191
|
0.00001
|
|
NM_005529.7(HSPG2):c.8463C>T (p.Pro2821=)
|
rs770531584
|
0.00001
|
|
NM_005529.7(HSPG2):c.8918G>A (p.Gly2973Asp)
|
rs970241590
|
0.00001
|
|
NM_005529.7(HSPG2):c.9097G>A (p.Val3033Met)
|
rs138424698
|
0.00001
|
|
NM_005529.7(HSPG2):c.9112G>A (p.Asp3038Asn)
|
rs62642511
|
0.00001
|
|
NM_005529.7(HSPG2):c.920A>C (p.Gln307Pro)
|
rs1272760299
|
0.00001
|
|
NM_005529.7(HSPG2):c.943G>A (p.Asp315Asn)
|
rs747905552
|
0.00001
|
|
NM_005529.7(HSPG2):c.9683C>T (p.Thr3228Met)
|
rs777868101
|
0.00001
|
|
NM_005529.7(HSPG2):c.9695G>A (p.Arg3232His)
|
rs758945882
|
0.00001
|
|
NM_005529.7(HSPG2):c.9920A>G (p.His3307Arg)
|
rs779440838
|
0.00001
|
|
NM_005529.7(HSPG2):c.9974C>T (p.Thr3325Ile)
|
rs1237367957
|
0.00001
|
|
NM_005548.3(KARS1):c.1040A>G (p.Tyr347Cys)
|
rs974033317
|
0.00001
|
|
NM_005557.4(KRT16):c.1373T>C (p.Ile458Thr)
|
rs1458235002
|
0.00001
|
|
NM_005559.4(LAMA1):c.2135C>T (p.Pro712Leu)
|
rs532355831
|
0.00001
|
|
NM_005559.4(LAMA1):c.5071A>G (p.Thr1691Ala)
|
rs529739104
|
0.00001
|
|
NM_005559.4(LAMA1):c.9068C>A (p.Ala3023Asp)
|
rs527377399
|
0.00001
|
|
NM_005562.3(LAMC2):c.614A>G (p.His205Arg)
|
rs755496352
|
0.00001
|
|
NM_005566.4(LDHA):c.436G>A (p.Val146Met)
|
rs200268273
|
0.00001
|
|
NM_005591.4(MRE11):c.1074A>G (p.Pro358=)
|
rs876659934
|
0.00001
|
|
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp)
|
rs778585671
|
0.00001
|
|
NM_005591.4(MRE11):c.1800G>T (p.Glu600Asp)
|
rs1028566396
|
0.00001
|
|
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu)
|
rs770907001
|
0.00001
|
|
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)
|
rs202126269
|
0.00001
|
|
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val)
|
rs769807910
|
0.00001
|
|
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His)
|
rs760452360
|
0.00001
|
|
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
|
rs573900610
|
0.00001
|
|
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
|
rs2132066396
|
0.00001
|
|
NM_005592.4(MUSK):c.20T>C (p.Ile7Thr)
|
rs2075922654
|
0.00001
|
|
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)
|
rs776815006
|
0.00001
|
|
NM_005592.4(MUSK):c.2441A>G (p.Tyr814Cys)
|
rs774652957
|
0.00001
|
|
NM_005592.4(MUSK):c.254C>T (p.Thr85Ile)
|
rs2131669595
|
0.00001
|
|
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln)
|
rs201134491
|
0.00001
|
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
|
NM_005592.4(MUSK):c.467A>T (p.Lys156Met)
|
rs1048310820
|
0.00001
|
|
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)
|
rs373304727
|
0.00001
|
|
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
|
rs1387603022
|
0.00001
|
|
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)
|
rs1564253296
|
0.00001
|
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
|
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln)
|
rs548646628
|
0.00001
|
|
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
|
rs764465584
|
0.00001
|
|
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser)
|
rs752857036
|
0.00001
|
|
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
|
rs750184482
|
0.00001
|
|
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu)
|
rs762538125
|
0.00001
|
|
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
|
rs767293977
|
0.00001
|
|
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
|
rs199728804
|
0.00001
|
|
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
|
rs922555750
|
0.00001
|
|
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
|
rs769985937
|
0.00001
|
|
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
|
rs575153481
|
0.00001
|
|
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu)
|
rs766794236
|
0.00001
|
|
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
|
rs746031643
|
0.00001
|
|
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
|
rs375646075
|
0.00001
|
|
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val)
|
rs1204741662
|
0.00001
|
|
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
|
rs746276802
|
0.00001
|
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
0.00001
|
|
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys)
|
rs768434441
|
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.224A>G (p.Tyr75Cys)
|
rs1449944847
|
0.00001
|
|
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
|
rs755923861
|
0.00001
|
|
NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)
|
rs757950557
|
0.00001
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
rs761616685
|
0.00001
|
|
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
|
rs757670205
|
0.00001
|
|
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)
|
rs147307168
|
0.00001
|
|
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)
|
rs896668027
|
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.586G>A (p.Glu196Lys)
|
rs2058403588
|
0.00001
|
|
NM_005609.4(PYGM):c.618T>A (p.His206Gln)
|
rs371343340
|
0.00001
|
|
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
|
rs771073706
|
0.00001
|
|
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
|
rs779706675
|
0.00001
|
|
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
|
rs756281352
|
0.00001
|
|
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln)
|
rs374812974
|
0.00001
|
|
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr)
|
rs2058382992
|
0.00001
|
|
NM_005618.4(DLL1):c.1508A>G (p.Tyr503Cys)
|
rs374901440
|
0.00001
|
|
NM_005618.4(DLL1):c.1988C>T (p.Thr663Ile)
|
rs778919888
|
0.00001
|
|
NM_005618.4(DLL1):c.218C>T (p.Pro73Leu)
|
rs2114966477
|
0.00001
|
|
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln)
|
rs1262346281
|
0.00001
|
|
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu)
|
rs730881040
|
0.00001
|
|
NM_005633.4(SOS1):c.3473G>A (p.Arg1158Gln)
|
rs1668591994
|
0.00001
|
|
NM_005633.4(SOS1):c.3747C>A (p.Phe1249Leu)
|
rs775837423
|
0.00001
|
|
NM_005634.3(SOX3):c.398G>T (p.Gly133Val)
|
rs752249343
|
0.00001
|
|
NM_005655.4(KLF10):c.1343C>G (p.Ala448Gly)
|
rs1255431856
|
0.00001
|
|
NM_005660.3(SLC35A2):c.571G>A (p.Gly191Ser)
|
rs781880707
|
0.00001
|
|
NM_005677.4(COLQ):c.1255G>A (p.Gly419Ser)
|
rs769114264
|
0.00001
|
|
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
|
rs1230299116
|
0.00001
|
|
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys)
|
rs750806839
|
0.00001
|
|
NM_005677.4(COLQ):c.779C>G (p.Pro260Arg)
|
rs1251662945
|
0.00001
|
|
NM_005677.4(COLQ):c.869G>A (p.Arg290Lys)
|
rs752905204
|
0.00001
|
|
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp)
|
rs765680430
|
0.00001
|
|
NM_005732.4(RAD50):c.130A>T (p.Thr44Ser)
|
rs377388354
|
0.00001
|
|
NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln)
|
rs572533256
|
0.00001
|
|
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg)
|
rs201766077
|
0.00001
|
|
NM_005751.5(AKAP9):c.10196C>A (p.Thr3399Asn)
|
rs758623712
|
0.00001
|
|
NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)
|
rs374593704
|
0.00001
|
|
NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)
|
rs768957112
|
0.00001
|
|
NM_005861.4(STUB1):c.760C>T (p.Arg254Cys)
|
rs770730338
|
0.00001
|
|
NM_005862.3(STAG1):c.1132A>G (p.Ile378Val)
|
rs1467330352
|
0.00001
|
|
NM_005862.3(STAG1):c.139A>G (p.Asn47Asp)
|
rs2472679439
|
0.00001
|
|
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
|
rs781062591
|
0.00001
|
|
NM_005876.5(SPEG):c.1149C>T (p.Arg383=)
|
rs1295142218
|
0.00001
|
|
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp)
|
rs1381276826
|
0.00001
|
|
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
|
rs1319052723
|
0.00001
|
|
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp)
|
rs956843160
|
0.00001
|
|
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
|
rs201454314
|
0.00001
|
|
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
|
rs760680333
|
0.00001
|
|
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
|
rs1451744479
|
0.00001
|
|
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu)
|
rs1343314943
|
0.00001
|
|
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
|
rs533933963
|
0.00001
|
|
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
|
rs746620548
|
0.00001
|
|
NM_005879.3(TRAIP):c.989C>T (p.Ser330Phe)
|
rs777634395
|
0.00001
|
|
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)
|
rs774302251
|
0.00001
|
|
NM_005883.3(APC2):c.5770C>A (p.Gln1924Lys)
|
rs1318961926
|
0.00001
|
|
NM_005886.3(KATNB1):c.62G>A (p.Ser21Asn)
|
rs781899713
|
0.00001
|
|
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
|
rs1236860367
|
0.00001
|
|
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
|
rs201248232
|
0.00001
|
|
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)
|
rs775701916
|
0.00001
|
|
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile)
|
rs202100945
|
0.00001
|
|
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys)
|
rs748627503
|
0.00001
|
|
NM_005957.5(MTHFR):c.1175C>T (p.Ser392Phe)
|
rs776842392
|
0.00001
|
|
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)
|
rs764650203
|
0.00001
|
|
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
|
rs773360881
|
0.00001
|
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
|
NM_005993.5(TBCD):c.146G>C (p.Gly49Ala)
|
rs924349931
|
0.00001
|
|
NM_005993.5(TBCD):c.2690A>G (p.His897Arg)
|
rs745875454
|
0.00001
|
|
NM_005993.5(TBCD):c.2780C>T (p.Thr927Met)
|
rs370298242
|
0.00001
|
|
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)
|
rs772606107
|
0.00001
|
|
NM_005993.5(TBCD):c.3550C>T (p.Gln1184Ter)
|
rs754168355
|
0.00001
|
|
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)
|
rs778417127
|
0.00001
|
|
NM_005996.4(TBX3):c.1462G>A (p.Ala488Thr)
|
rs994091095
|
0.00001
|
|
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys)
|
rs774330485
|
0.00001
|
|
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile)
|
rs775039116
|
0.00001
|
|
NM_006005.3(WFS1):c.1877C>T (p.Ser626Phe)
|
rs769320560
|
0.00001
|
|
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)
|
rs201078003
|
0.00001
|
|
NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)
|
rs1380239964
|
0.00001
|
|
NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)
|
rs1308658460
|
0.00001
|
|
NM_006017.3(PROM1):c.1320C>T (p.Val440=)
|
rs765602610
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.751G>A (p.Gly251Ser)
|
rs373046774
|
0.00001
|
|
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
|
rs756428673
|
0.00001
|
|
NM_006035.4(CDC42BPB):c.3658C>T (p.Arg1220Trp)
|
rs771945943
|
0.00001
|
|
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His)
|
rs937630364
|
0.00001
|
|
NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)
|
rs911390630
|
0.00001
|
|
NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)
|
rs138260330
|
0.00001
|
|
NM_006070.6(TFG):c.550G>A (p.Ala184Thr)
|
rs777654574
|
0.00001
|
|
NM_006070.6(TFG):c.922C>T (p.Pro308Ser)
|
rs755728694
|
0.00001
|
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
|
NM_006129.5(BMP1):c.799G>A (p.Asp267Asn)
|
rs764649614
|
0.00001
|
|
NM_006158.5(NEFL):c.139G>T (p.Val47Leu)
|
rs761972094
|
0.00001
|
|
NM_006180.6(NTRK2):c.482C>T (p.Thr161Ile)
|
rs769121017
|
0.00001
|
|
NM_006197.4(PCM1):c.1489C>T (p.Arg497Ter)
|
rs1378854968
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile)
|
rs1437358654
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2986G>A (p.Glu996Lys)
|
rs779173667
|
0.00001
|
|
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)
|
rs373948582
|
0.00001
|
|
NM_006208.3(ENPP1):c.1092-42A>G
|
rs765775332
|
0.00001
|
|
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys)
|
rs753071702
|
0.00001
|
|
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp)
|
rs758218321
|
0.00001
|
|
NM_006218.4(PIK3CA):c.2667-20G>A
|
rs1170069201
|
0.00001
|
|
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr)
|
rs1724405220
|
0.00001
|
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
|
NM_006231.4(POLE):c.3787A>G (p.Thr1263Ala)
|
rs1025864203
|
0.00001
|
|
NM_006231.4(POLE):c.4411C>T (p.Arg1471Cys)
|
rs528264567
|
0.00001
|
|
NM_006231.4(POLE):c.5125G>A (p.Asp1709Asn)
|
rs572502366
|
0.00001
|
|
NM_006231.4(POLE):c.5476C>T (p.Arg1826Trp)
|
rs762000608
|
0.00001
|
|
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)
|
rs749992643
|
0.00001
|
|
NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln)
|
rs377512214
|
0.00001
|
|
NM_006260.5(DNAJC3):c.1243C>T (p.Arg415Ter)
|
rs768498039
|
0.00001
|
|
NM_006267.5(RANBP2):c.8656G>A (p.Gly2886Arg)
|
rs764756886
|
0.00001
|
|
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly)
|
rs546625124
|
0.00001
|
|
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg)
|
rs1245809381
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)
|
rs745451424
|
0.00001
|
|
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)
|
rs764604724
|
0.00001
|
|
NM_006314.3(CNKSR1):c.439C>T (p.Arg147Ter)
|
rs780235575
|
0.00001
|
|
NM_006363.6(SEC23B):c.1240C>T (p.Arg414Trp)
|
rs769106269
|
0.00001
|
|
NM_006363.6(SEC23B):c.1831C>T (p.Arg611Trp)
|
rs771826357
|
0.00001
|
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
|
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys)
|
rs398124227
|
0.00001
|
|
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
|
rs1363436677
|
0.00001
|
|
NM_006363.6(SEC23B):c.998A>G (p.Tyr333Cys)
|
rs767678738
|
0.00001
|
|
NM_006366.3(CAP2):c.2T>C (p.Met1Thr)
|
rs781551693
|
0.00001
|
|
NM_006371.5(CRTAP):c.535G>A (p.Glu179Lys)
|
rs953081958
|
0.00001
|
|
NM_006393.3(NEBL):c.2241+1G>A
|
rs113316961
|
0.00001
|
|
NM_006415.4(SPTLC1):c.143A>G (p.Glu48Gly)
|
rs1332690974
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg)
|
rs745385629
|
0.00001
|
|
NM_006446.5(SLCO1B1):c.1462G>A (p.Gly488Ser)
|
rs774471564
|
0.00001
|
|
NM_006446.5(SLCO1B1):c.1848T>G (p.Tyr616Ter)
|
rs1488371773
|
0.00001
|
|
NM_006446.5(SLCO1B1):c.629-1G>A
|
rs1205419424
|
0.00001
|
|
NM_006446.5(SLCO1B1):c.674C>T (p.Thr225Ile)
|
rs370943869
|
0.00001
|
|
NM_006446.5(SLCO1B1):c.808A>C (p.Ile270Leu)
|
rs201438350
|
0.00001
|
|
NM_006446.5(SLCO1B1):c.904A>T (p.Asn302Tyr)
|
rs770854976
|
0.00001
|
|
NM_006488.3(KHK):c.112C>T (p.Gln38Ter)
|
rs780406699
|
0.00001
|
|
NM_006493.4(CLN5):c.3G>A (p.Met1Ile)
|
rs1464891081
|
0.00001
|
|
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)
|
rs748549252
|
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_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
rs768621727
|
0.00001
|
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
|
NM_006545.5(NPRL2):c.158A>G (p.Lys53Arg)
|
rs1227195744
|
0.00001
|
|
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)
|
rs751736902
|
0.00001
|
|
NM_006565.4(CTCF):c.118T>G (p.Leu40Val)
|
rs775896161
|
0.00001
|
|
NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)
|
rs1339411525
|
0.00001
|
|
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
|
rs760186894
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys)
|
rs372641187
|
0.00001
|
|
NM_006659.4(TUBGCP2):c.1719C>T (p.Leu573=)
|
rs1175803756
|
0.00001
|
|
NM_006659.4(TUBGCP2):c.55G>A (p.Val19Ile)
|
rs548413062
|
0.00001
|
|
NM_006662.3(SRCAP):c.3755G>A (p.Ser1252Asn)
|
rs1313545996
|
0.00001
|
|
NM_006662.3(SRCAP):c.5501C>A (p.Pro1834His)
|
rs755109993
|
0.00001
|
|
NM_006662.3(SRCAP):c.8921C>T (p.Pro2974Leu)
|
rs1260768315
|
0.00001
|
|
NM_006662.3(SRCAP):c.9677G>A (p.Arg3226His)
|
rs771965965
|
0.00001
|
|
NM_006734.4(HIVEP2):c.1067A>T (p.Asn356Ile)
|
rs764394943
|
0.00001
|
|
NM_006734.4(HIVEP2):c.1291C>T (p.Arg431Trp)
|
rs775033088
|
0.00001
|
|
NM_006734.4(HIVEP2):c.1781C>T (p.Ala594Val)
|
rs541110984
|
0.00001
|
|
NM_006734.4(HIVEP2):c.2358G>A (p.Met786Ile)
|
rs777863329
|
0.00001
|
|
NM_006734.4(HIVEP2):c.3290T>C (p.Val1097Ala)
|
rs769505698
|
0.00001
|
|
NM_006734.4(HIVEP2):c.330G>A (p.Met110Ile)
|
rs751167404
|
0.00001
|
|
NM_006734.4(HIVEP2):c.3362A>G (p.His1121Arg)
|
rs1205975100
|
0.00001
|
|
NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr)
|
rs749509886
|
0.00001
|
|
NM_006734.4(HIVEP2):c.6104C>T (p.Ser2035Phe)
|
rs951703772
|
0.00001
|
|
NM_006734.4(HIVEP2):c.6257G>A (p.Arg2086Lys)
|
rs755770811
|
0.00001
|
|
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp)
|
rs747378005
|
0.00001
|
|
NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys)
|
rs567606097
|
0.00001
|
|
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)
|
rs1822253833
|
0.00001
|
|
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)
|
rs771696360
|
0.00001
|
|
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)
|
rs1235476273
|
0.00001
|
|
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)
|
rs772389785
|
0.00001
|
|
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)
|
rs866001782
|
0.00001
|
|
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)
|
rs1398284371
|
0.00001
|
|
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)
|
rs748470605
|
0.00001
|
|
NM_006767.4(LZTR1):c.-975G>A
|
rs752742670
|
0.00001
|
|
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn)
|
rs775051211
|
0.00001
|
|
NM_006767.4(LZTR1):c.17G>T (p.Ser6Ile)
|
rs1169396415
|
0.00001
|
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
|
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
|
rs1275511136
|
0.00001
|
|
NM_006767.4(LZTR1):c.542C>T (p.Thr181Met)
|
rs774992323
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr)
|
rs765011916
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu)
|
rs747205991
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln)
|
rs574603811
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.509+5A>C
|
rs780314191
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.815G>A (p.Arg272Gln)
|
rs1232085113
|
0.00001
|
|
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)
|
rs201903235
|
0.00001
|
|
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser)
|
rs777061001
|
0.00001
|
|
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
|
rs200619317
|
0.00001
|
|
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg)
|
rs769872126
|
0.00001
|
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
|
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)
|
rs770515990
|
0.00001
|
|
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
|
rs2531991398
|
0.00001
|
|
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)
|
rs1755029530
|
0.00001
|
|
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
|
rs767970351
|
0.00001
|
|
NM_006790.3(MYOT):c.372del (p.Ala125fs)
|
rs781353247
|
0.00001
|
|
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)
|
rs982468554
|
0.00001
|
|
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
|
rs778201315
|
0.00001
|
|
NM_006790.3(MYOT):c.424A>G (p.Ile142Val)
|
rs771238896
|
0.00001
|
|
NM_006790.3(MYOT):c.752G>A (p.Arg251His)
|
rs1477747475
|
0.00001
|
|
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
|
rs1373205896
|
0.00001
|
|
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
|
rs780661087
|
0.00001
|
|
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)
|
rs758194318
|
0.00001
|
|
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
|
rs552753458
|
0.00001
|
|
NM_006852.6(TLK2):c.362C>T (p.Pro121Leu)
|
rs780493365
|
0.00001
|
|
NM_006895.3(HNMT):c.534C>T (p.Gly178=)
|
rs764526734
|
0.00001
|
|
NM_006901.4(MYO9A):c.3406C>G (p.Gln1136Glu)
|
rs755552099
|
0.00001
|
|
NM_006901.4(MYO9A):c.4745C>T (p.Ala1582Val)
|
rs769266672
|
0.00001
|
|
NM_006901.4(MYO9A):c.7216G>C (p.Ala2406Pro)
|
rs181916530
|
0.00001
|
|
NM_006904.7(PRKDC):c.2291C>T (p.Pro764Leu)
|
rs374576070
|
0.00001
|
|
NM_006904.7(PRKDC):c.529C>T (p.Leu177Phe)
|
rs901353625
|
0.00001
|
|
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu)
|
rs281875319
|
0.00001
|
|
NM_006908.5(RAC1):c.280C>T (p.Arg94Cys)
|
rs1783356253
|
0.00001
|
|
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)
|
rs777520196
|
0.00001
|
|
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
|
rs372170139
|
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_006922.4(SCN3A):c.2027C>T (p.Thr676Ile)
|
rs762573176
|
0.00001
|
|
NM_006922.4(SCN3A):c.2410A>G (p.Thr804Ala)
|
rs747673178
|
0.00001
|
|
NM_006922.4(SCN3A):c.3256G>A (p.Asp1086Asn)
|
rs149911613
|
0.00001
|
|
NM_006922.4(SCN3A):c.5878G>A (p.Gly1960Arg)
|
rs751266947
|
0.00001
|
|
NM_006922.4(SCN3A):c.805T>C (p.Phe269Leu)
|
rs1442892646
|
0.00001
|
|
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
|
rs1321231210
|
0.00001
|
|
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
|
rs748012592
|
0.00001
|
|
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
|
rs2083643368
|
0.00001
|
|
NM_006946.4(SPTBN2):c.4064C>T (p.Ser1355Leu)
|
rs200707472
|
0.00001
|
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
|
NM_006949.4(STXBP2):c.962C>T (p.Ala321Val)
|
rs753737127
|
0.00001
|
|
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
|
rs148027038
|
0.00001
|
|
NM_007078.3(LDB3):c.-2G>A
|
rs1281121249
|
0.00001
|
|
NM_007078.3(LDB3):c.254G>A (p.Arg85His)
|
rs200420174
|
0.00001
|
|
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)
|
rs772912790
|
0.00001
|
|
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)
|
rs776803568
|
0.00001
|
|
NM_007078.3(LDB3):c.859A>G (p.Met287Val)
|
rs1353972543
|
0.00001
|
|
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)
|
rs757486575
|
0.00001
|
|
NM_007118.4(TRIO):c.1003A>G (p.Lys335Glu)
|
rs1736871714
|
0.00001
|
|
NM_007118.4(TRIO):c.1982G>A (p.Arg661Gln)
|
rs778437231
|
0.00001
|
|
NM_007118.4(TRIO):c.2874+3A>G
|
rs747278680
|
0.00001
|
|
NM_007118.4(TRIO):c.3028G>A (p.Val1010Ile)
|
rs1050603011
|
0.00001
|
|
NM_007118.4(TRIO):c.349G>A (p.Glu117Lys)
|
rs769526836
|
0.00001
|
|
NM_007118.4(TRIO):c.6583G>A (p.Val2195Ile)
|
rs201465691
|
0.00001
|
|
NM_007118.4(TRIO):c.6910G>A (p.Gly2304Arg)
|
rs768209828
|
0.00001
|
|
NM_007118.4(TRIO):c.7031C>G (p.Pro2344Arg)
|
rs1482901881
|
0.00001
|
|
NM_007118.4(TRIO):c.7048C>G (p.Pro2350Ala)
|
rs779844024
|
0.00001
|
|
NM_007118.4(TRIO):c.7618A>G (p.Thr2540Ala)
|
rs1034785220
|
0.00001
|
|
NM_007118.4(TRIO):c.7979G>A (p.Arg2660Gln)
|
rs770422456
|
0.00001
|
|
NM_007118.4(TRIO):c.8703A>C (p.Glu2901Asp)
|
rs755150790
|
0.00001
|
|
NM_007118.4(TRIO):c.9065A>G (p.Lys3022Arg)
|
rs755775534
|
0.00001
|
|
NM_007126.5(VCP):c.1211A>C (p.His404Pro)
|
rs1359620830
|
0.00001
|
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
|
NM_007126.5(VCP):c.73C>T (p.Arg25Trp)
|
rs920962883
|
0.00001
|
|
NM_007129.5(ZIC2):c.242_253dup (p.Ala84_Tyr85insCysProGlyAla)
|
rs749491525
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
|
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp)
|
rs1384327533
|
0.00001
|
|
NM_007198.4(PLPBP):c.721C>T (p.Arg241Ter)
|
rs942951418
|
0.00001
|
|
NM_007254.4(PNKP):c.149A>T (p.Gln50Leu)
|
rs368359218
|
0.00001
|
|
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
|
rs773416080
|
0.00001
|
|
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
|
rs781919956
|
0.00001
|
|
NM_007272.3(CTRC):c.473C>T (p.Thr158Ile)
|
rs1238171999
|
0.00001
|
|
NM_007289.4(MME):c.1590G>A (p.Val530=)
|
rs1209332250
|
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_007315.4(STAT1):c.992G>A (p.Arg331Lys)
|
rs533671897
|
0.00001
|
|
NM_007317.3(KIF22):c.127C>T (p.Arg43Cys)
|
rs1267445233
|
0.00001
|
|
NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)
|
rs1461250681
|
0.00001
|
|
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys)
|
rs775540855
|
0.00001
|
|
NM_007327.4(GRIN1):c.2681G>A (p.Arg894His)
|
rs1833804499
|
0.00001
|
|
NM_007347.5(AP4E1):c.3095+4A>C
|
rs571911742
|
0.00001
|
|
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val)
|
rs201197595
|
0.00001
|
|
NM_012062.5(DNM1L):c.1268G>A (p.Arg423His)
|
rs2541080805
|
0.00001
|
|
NM_012062.5(DNM1L):c.1366C>T (p.Arg456Ter)
|
rs929544837
|
0.00001
|
|
NM_012073.5(CCT5):c.1183A>G (p.Ile395Val)
|
rs781378409
|
0.00001
|
|
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)
|
rs772114579
|
0.00001
|
|
NM_012082.4(ZFPM2):c.665G>A (p.Arg222His)
|
rs1294020638
|
0.00001
|
|
NM_012120.3(CD2AP):c.721C>A (p.Pro241Thr)
|
rs756161725
|
0.00001
|
|
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
|
rs755467679
|
0.00001
|
|
NM_012154.5(AGO2):c.1870C>T (p.Arg624Cys)
|
rs1196970558
|
0.00001
|
|
NM_012154.5(AGO2):c.1889G>A (p.Arg630His)
|
rs1205353566
|
0.00001
|
|
NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)
|
rs752331785
|
0.00001
|
|
NM_012210.4(TRIM32):c.1001C>T (p.Ala334Val)
|
rs1025366788
|
0.00001
|
|
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn)
|
rs778321975
|
0.00001
|
|
NM_012210.4(TRIM32):c.1124T>G (p.Val375Gly)
|
rs886044107
|
0.00001
|
|
NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr)
|
rs886042328
|
0.00001
|
|
NM_012210.4(TRIM32):c.1258A>G (p.Ser420Gly)
|
rs1338332020
|
0.00001
|
|
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val)
|
rs746383181
|
0.00001
|
|
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu)
|
rs371233848
|
0.00001
|
|
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)
|
rs199664043
|
0.00001
|
|
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys)
|
rs780867714
|
0.00001
|
|
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser)
|
rs368240408
|
0.00001
|
|
NM_012210.4(TRIM32):c.1882G>A (p.Gly628Arg)
|
rs1360716233
|
0.00001
|
|
NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser)
|
rs899549661
|
0.00001
|
|
NM_012210.4(TRIM32):c.1960T>C (p.Ter654Gln)
|
rs1295233873
|
0.00001
|
|
NM_012210.4(TRIM32):c.24C>A (p.His8Gln)
|
rs774511117
|
0.00001
|
|
NM_012210.4(TRIM32):c.284T>C (p.Val95Ala)
|
rs780885702
|
0.00001
|
|
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)
|
rs776796546
|
0.00001
|
|
NM_012210.4(TRIM32):c.395G>A (p.Gly132Asp)
|
rs749100046
|
0.00001
|
|
NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp)
|
rs1202455552
|
0.00001
|
|
NM_012210.4(TRIM32):c.464G>A (p.Arg155His)
|
rs777914761
|
0.00001
|
|
NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)
|
rs563191272
|
0.00001
|
|
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)
|
rs374248541
|
0.00001
|
|
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu)
|
rs759742371
|
0.00001
|
|
NM_012210.4(TRIM32):c.899C>T (p.Thr300Ile)
|
rs1010496243
|
0.00001
|
|
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)
|
rs778141507
|
0.00001
|
|
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
|
rs752031686
|
0.00001
|
|
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)
|
rs1460743124
|
0.00001
|
|
NM_012216.4(MID2):c.1414A>G (p.Arg472Gly)
|
rs1406511255
|
0.00001
|
|
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)
|
rs1330090952
|
0.00001
|
|
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)
|
rs753997682
|
0.00001
|
|
NM_012310.5(KIF4A):c.1891C>T (p.Arg631Cys)
|
rs778734440
|
0.00001
|
|
NM_012330.4(KAT6B):c.1217G>A (p.Arg406Gln)
|
rs781347759
|
0.00001
|
|
NM_012330.4(KAT6B):c.2695C>T (p.Arg899Cys)
|
rs559399976
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.2090A>G (p.Asn697Ser)
|
rs766182343
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser)
|
rs900496407
|
0.00001
|
|
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
|
rs749567149
|
0.00001
|
|
NM_012434.5(SLC17A5):c.968A>G (p.Asn323Ser)
|
rs768647620
|
0.00001
|
|
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
|
rs139019562
|
0.00001
|
|
NM_012470.4(TNPO3):c.1249A>G (p.Met417Val)
|
rs749899142
|
0.00001
|
|
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg)
|
rs755030982
|
0.00001
|
|
NM_012470.4(TNPO3):c.1585G>C (p.Val529Leu)
|
rs750192462
|
0.00001
|
|
NM_012470.4(TNPO3):c.1592G>A (p.Arg531Gln)
|
rs767338890
|
0.00001
|
|
NM_012470.4(TNPO3):c.160C>T (p.Arg54Trp)
|
rs758601463
|
0.00001
|
|
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
|
rs370293580
|
0.00001
|
|
NM_012470.4(TNPO3):c.1735G>A (p.Glu579Lys)
|
rs373570876
|
0.00001
|
|
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)
|
rs886043402
|
0.00001
|
|
NM_012470.4(TNPO3):c.1874T>C (p.Ile625Thr)
|
rs200950202
|
0.00001
|
|
NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp)
|
rs773366551
|
0.00001
|
|
NM_012470.4(TNPO3):c.2080G>A (p.Val694Ile)
|
rs775116339
|
0.00001
|
|
NM_012470.4(TNPO3):c.2185T>G (p.Cys729Gly)
|
rs781724504
|
0.00001
|
|
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg)
|
rs1339666918
|
0.00001
|
|
NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)
|
rs944698357
|
0.00001
|
|
NM_012470.4(TNPO3):c.525C>G (p.Phe175Leu)
|
rs1249604129
|
0.00001
|
|
NM_012470.4(TNPO3):c.643G>A (p.Asp215Asn)
|
rs1433633369
|
0.00001
|
|
NM_012470.4(TNPO3):c.713C>T (p.Ser238Leu)
|
rs748952773
|
0.00001
|
|
NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)
|
rs147630663
|
0.00001
|
|
NM_012470.4(TNPO3):c.788T>G (p.Leu263Trp)
|
rs1218655667
|
0.00001
|
|
NM_012470.4(TNPO3):c.7G>A (p.Gly3Arg)
|
rs879028913
|
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_012470.4(TNPO3):c.964C>T (p.Arg322Ter)
|
rs751304152
|
0.00001
|
|
NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp)
|
rs1415790123
|
0.00001
|
|
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
|
rs759184920
|
0.00001
|
|
NM_013254.4(TBK1):c.2139-7G>A
|
rs534404556
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val)
|
rs1032740164
|
0.00001
|
|
NM_013275.6(ANKRD11):c.1038G>A (p.Glu346=)
|
rs779165435
|
0.00001
|
|
NM_013275.6(ANKRD11):c.1994A>G (p.Lys665Arg)
|
rs769640583
|
0.00001
|
|
NM_013275.6(ANKRD11):c.2539G>A (p.Asp847Asn)
|
rs565590201
|
0.00001
|
|
NM_013275.6(ANKRD11):c.4453C>G (p.Leu1485Val)
|
rs770463986
|
0.00001
|
|
NM_013275.6(ANKRD11):c.5231A>T (p.His1744Leu)
|
rs762398457
|
0.00001
|
|
NM_013291.3(CPSF1):c.1120-5C>T
|
rs781945806
|
0.00001
|
|
NM_013322.3(SNX10):c.284G>A (p.Arg95His)
|
rs897553060
|
0.00001
|
|
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
|
rs376292789
|
0.00001
|
|
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
|
rs763018692
|
0.00001
|
|
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val)
|
rs886043224
|
0.00001
|
|
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
|
rs190285831
|
0.00001
|
|
NM_013382.7(POMT2):c.124C>T (p.Pro42Ser)
|
rs1350511523
|
0.00001
|
|
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala)
|
rs761917543
|
0.00001
|
|
NM_013382.7(POMT2):c.1455G>A (p.Leu485=)
|
rs201326532
|
0.00001
|
|
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys)
|
rs186872560
|
0.00001
|
|
NM_013382.7(POMT2):c.1652G>A (p.Arg551Gln)
|
rs958000996
|
0.00001
|
|
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp)
|
rs1006561976
|
0.00001
|
|
NM_013382.7(POMT2):c.1784C>T (p.Pro595Leu)
|
rs1015129250
|
0.00001
|
|
NM_013382.7(POMT2):c.1843A>G (p.Ile615Val)
|
rs762148813
|
0.00001
|
|
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp)
|
rs749335757
|
0.00001
|
|
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu)
|
rs1262591820
|
0.00001
|
|
NM_013382.7(POMT2):c.1921G>A (p.Gly641Ser)
|
rs754291354
|
0.00001
|
|
NM_013382.7(POMT2):c.1943C>T (p.Thr648Ile)
|
rs774602296
|
0.00001
|
|
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)
|
rs372939905
|
0.00001
|
|
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu)
|
rs763325075
|
0.00001
|
|
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val)
|
rs746221148
|
0.00001
|
|
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)
|
rs199719668
|
0.00001
|
|
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser)
|
rs747944127
|
0.00001
|
|
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr)
|
rs886043765
|
0.00001
|
|
NM_013382.7(POMT2):c.845G>A (p.Arg282His)
|
rs756132642
|
0.00001
|
|
NM_013382.7(POMT2):c.869C>T (p.Pro290Leu)
|
rs1248511525
|
0.00001
|
|
NM_013382.7(POMT2):c.86C>G (p.Ala29Gly)
|
rs772340216
|
0.00001
|
|
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile)
|
rs775548781
|
0.00001
|
|
NM_014000.3(VCL):c.2030C>T (p.Ser677Leu)
|
rs770869561
|
0.00001
|
|
NM_014000.3(VCL):c.2807C>T (p.Ala936Val)
|
rs754681045
|
0.00001
|
|
NM_014008.5(CCDC22):c.1222G>A (p.Glu408Lys)
|
rs201781845
|
0.00001
|
|
NM_014008.5(CCDC22):c.382C>T (p.Arg128Trp)
|
rs369421373
|
0.00001
|
|
NM_014017.4(LAMTOR2):c.47C>T (p.Thr16Ile)
|
rs763874836
|
0.00001
|
|
NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly)
|
rs866688232
|
0.00001
|
|
NM_014049.5(ACAD9):c.244+3A>G
|
rs1935198953
|
0.00001
|
|
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)
|
rs1391075754
|
0.00001
|
|
NM_014055.4(IFT81):c.2015A>G (p.Asp672Gly)
|
rs1444904476
|
0.00001
|
|
NM_014112.5(TRPS1):c.3205T>A (p.Ser1069Thr)
|
rs2536582251
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.1633G>A (p.Ala545Thr)
|
rs747922335
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3476-7C>T
|
rs1057520468
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.755-3C>T
|
rs780336361
|
0.00001
|
|
NM_014159.7(SETD2):c.1912T>G (p.Ser638Ala)
|
rs2106685770
|
0.00001
|
|
NM_014159.7(SETD2):c.1928A>G (p.His643Arg)
|
rs776293901
|
0.00001
|
|
NM_014159.7(SETD2):c.3331C>T (p.His1111Tyr)
|
rs760289594
|
0.00001
|
|
NM_014159.7(SETD2):c.7432-4G>C
|
rs1173846557
|
0.00001
|
|
NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)
|
rs748103058
|
0.00001
|
|
NM_014232.3(VAMP2):c.13G>A (p.Ala5Thr)
|
rs1263959393
|
0.00001
|
|
NM_014233.4(UBTF):c.1199G>T (p.Gly400Val)
|
rs1317246008
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe)
|
rs1484973374
|
0.00001
|
|
NM_014252.4(SLC25A15):c.584G>A (p.Arg195Gln)
|
rs770355365
|
0.00001
|
|
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr)
|
rs922693472
|
0.00001
|
|
NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)
|
rs148334096
|
0.00001
|
|
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu)
|
rs1057515852
|
0.00001
|
|
NM_014271.4(IL1RAPL1):c.84C>T (p.Ala28=)
|
rs773998745
|
0.00001
|
|
NM_014305.4(TGDS):c.885-2A>C
|
rs775253964
|
0.00001
|
|
NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp)
|
rs147126048
|
0.00001
|
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
|
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
|
rs761454766
|
0.00001
|
|
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
|
rs747675676
|
0.00001
|
|
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
|
rs1460377408
|
0.00001
|
|
NM_014363.6(SACS):c.561C>T (p.Val187=)
|
rs758653462
|
0.00001
|
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
|
NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)
|
rs749331373
|
0.00001
|
|
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
|
rs142790411
|
0.00001
|
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
|
NM_014464.4(TINAG):c.1354C>T (p.Arg452Ter)
|
rs771109925
|
0.00001
|
|
NM_014467.3(SRPX2):c.118G>A (p.Val40Ile)
|
rs781027646
|
0.00001
|
|
NM_014476.6(PDLIM3):c.243C>G (p.Asp81Glu)
|
rs1191199211
|
0.00001
|
|
NM_014476.6(PDLIM3):c.692C>T (p.Ser231Leu)
|
rs777812739
|
0.00001
|
|
NM_014491.4(FOXP2):c.1657C>T (p.Arg553Cys)
|
rs566961630
|
0.00001
|
|
NM_014491.4(FOXP2):c.1794A>G (p.Ile598Met)
|
rs565909014
|
0.00001
|
|
NM_014588.6(VSX1):c.221C>A (p.Ala74Glu)
|
rs894273903
|
0.00001
|
|
NM_014625.4(NPHS2):c.807G>T (p.Arg269Ser)
|
rs770495227
|
0.00001
|
|
NM_014639.4(SKIC3):c.*1C>G
|
rs763785288
|
0.00001
|
|
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
|
rs758847068
|
0.00001
|
|
NM_014712.3(SETD1A):c.1250C>G (p.Pro417Arg)
|
rs778801337
|
0.00001
|
|
NM_014712.3(SETD1A):c.2928+3G>A
|
rs1596681011
|
0.00001
|
|
NM_014712.3(SETD1A):c.3019G>A (p.Glu1007Lys)
|
rs767731186
|
0.00001
|
|
NM_014712.3(SETD1A):c.652C>T (p.Arg218Cys)
|
rs1437147970
|
0.00001
|
|
NM_014727.3(KMT2B):c.1384C>G (p.Pro462Ala)
|
rs1410514145
|
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_014727.3(KMT2B):c.5276+9T>C
|
rs558869980
|
0.00001
|
|
NM_014727.3(KMT2B):c.6125T>C (p.Val2042Ala)
|
rs930292802
|
0.00001
|
|
NM_014727.3(KMT2B):c.6268G>A (p.Val2090Ile)
|
rs1337468414
|
0.00001
|
|
NM_014727.3(KMT2B):c.652C>T (p.Arg218Trp)
|
rs1449929699
|
0.00001
|
|
NM_014762.4(DHCR24):c.1331G>A (p.Arg444His)
|
rs747327620
|
0.00001
|
|
NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp)
|
rs776954529
|
0.00001
|
|
NM_014795.4(ZEB2):c.1034G>A (p.Arg345Lys)
|
rs138012464
|
0.00001
|
|
NM_014797.3(ZBTB24):c.452C>G (p.Ser151Cys)
|
rs1194696874
|
0.00001
|
|
NM_014806.5(RUSC2):c.1538C>T (p.Ser513Leu)
|
rs1401001501
|
0.00001
|
|
NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)
|
rs1727563747
|
0.00001
|
|
NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)
|
rs1295702283
|
0.00001
|
|
NM_014844.5(TECPR2):c.3236G>A (p.Ser1079Asn)
|
rs765999317
|
0.00001
|
|
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val)
|
rs781056036
|
0.00001
|
|
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
|
rs759203876
|
0.00001
|
|
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
|
rs976509563
|
0.00001
|
|
NM_014874.4(MFN2):c.2221T>G (p.Leu741Val)
|
rs1060501917
|
0.00001
|
|
NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)
|
rs945685621
|
0.00001
|
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
0.00001
|
|
NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)
|
rs547463793
|
0.00001
|
|
NM_014946.4(SPAST):c.397A>G (p.Ile133Val)
|
rs1676416357
|
0.00001
|
|
NM_014975.3(MAST1):c.2560G>C (p.Glu854Gln)
|
rs199682318
|
0.00001
|
|
NM_014975.3(MAST1):c.2660C>T (p.Ala887Val)
|
rs1336723144
|
0.00001
|
|
NM_014989.7(RIMS1):c.4295C>A (p.Ser1432Tyr)
|
rs1243030421
|
0.00001
|
|
NM_014991.6(WDFY3):c.7095C>A (p.His2365Gln)
|
rs1357958669
|
0.00001
|
|
NM_015001.3(SPEN):c.10618C>G (p.Leu3540Val)
|
rs2523102593
|
0.00001
|
|
NM_015001.3(SPEN):c.109A>G (p.Ile37Val)
|
rs1372982779
|
0.00001
|
|
NM_015001.3(SPEN):c.6380C>T (p.Pro2127Leu)
|
rs750173975
|
0.00001
|
|
NM_015015.3(KDM4B):c.2345G>A (p.Gly782Asp)
|
rs2512151151
|
0.00001
|
|
NM_015021.3(ZNF292):c.3761A>G (p.Asn1254Ser)
|
rs548029828
|
0.00001
|
|
NM_015021.3(ZNF292):c.4006C>G (p.Gln1336Glu)
|
rs1317931779
|
0.00001
|
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
0.00001
|
|
NM_015046.7(SETX):c.2272G>A (p.Val758Met)
|
rs377667448
|
0.00001
|
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
rs757405541
|
0.00001
|
|
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys)
|
rs779729376
|
0.00001
|
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
|
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val)
|
rs757978377
|
0.00001
|
|
NM_015046.7(SETX):c.5938C>T (p.Leu1980=)
|
rs867574108
|
0.00001
|
|
NM_015046.7(SETX):c.5954A>G (p.Gln1985Arg)
|
rs879781944
|
0.00001
|
|
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp)
|
rs868436982
|
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_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
|
rs1456924846
|
0.00001
|
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
|
NM_015047.3(EMC1):c.1150C>T (p.Arg384Trp)
|
rs759816328
|
0.00001
|
|
NM_015047.3(EMC1):c.186G>A (p.Val62=)
|
rs775306558
|
0.00001
|
|
NM_015057.5(MYCBP2):c.2279A>G (p.Lys760Arg)
|
rs2071159588
|
0.00001
|
|
NM_015057.5(MYCBP2):c.7303G>A (p.Asp2435Asn)
|
rs1183326913
|
0.00001
|
|
NM_015100.4(POGZ):c.284-3T>C
|
rs374645463
|
0.00001
|
|
NM_015100.4(POGZ):c.3011G>A (p.Arg1004His)
|
rs774729338
|
0.00001
|
|
NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys)
|
rs934192477
|
0.00001
|
|
NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly)
|
rs1220465341
|
0.00001
|
|
NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr)
|
rs768968029
|
0.00001
|
|
NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)
|
rs776740035
|
0.00001
|
|
NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met)
|
rs761546950
|
0.00001
|
|
NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)
|
rs781837094
|
0.00001
|
|
NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)
|
rs1176242486
|
0.00001
|
|
NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro)
|
rs2486149925
|
0.00001
|
|
NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr)
|
rs959518364
|
0.00001
|
|
NM_015135.3(NUP205):c.821C>T (p.Ala274Val)
|
rs767119190
|
0.00001
|
|
NM_015151.4(DIP2A):c.2494G>A (p.Glu832Lys)
|
rs752972531
|
0.00001
|
|
NM_015151.4(DIP2A):c.2710C>T (p.Pro904Ser)
|
rs772037959
|
0.00001
|
|
NM_015151.4(DIP2A):c.3701C>T (p.Ser1234Leu)
|
rs767921130
|
0.00001
|
|
NM_015160.3(PMPCA):c.71+3G>A
|
rs1342294766
|
0.00001
|
|
NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser)
|
rs766119429
|
0.00001
|
|
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
|
rs755357721
|
0.00001
|
|
NM_015213.4(DENND5A):c.1483A>C (p.Asn495His)
|
rs758100539
|
0.00001
|
|
NM_015214.3(DDHD2):c.1031G>A (p.Gly344Asp)
|
rs1805601935
|
0.00001
|
|
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
|
rs2523707568
|
0.00001
|
|
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
|
rs142694234
|
0.00001
|
|
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
|
rs966383954
|
0.00001
|
|
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
|
rs780091964
|
0.00001
|
|
NM_015231.3(NUP160):c.2732G>A (p.Arg911His)
|
rs942923988
|
0.00001
|
|
NM_015267.4(CUX2):c.3008G>A (p.Ser1003Asn)
|
rs763292352
|
0.00001
|
|
NM_015267.4(CUX2):c.3196+10G>A
|
rs772997802
|
0.00001
|
|
NM_015267.4(CUX2):c.358A>C (p.Ser120Arg)
|
rs751670871
|
0.00001
|
|
NM_015267.4(CUX2):c.4297C>T (p.Pro1433Ser)
|
rs761281334
|
0.00001
|
|
NM_015271.5(TRIM2):c.239C>T (p.Ala80Val)
|
rs1314440662
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp)
|
rs763167296
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
|
rs1970435640
|
0.00001
|
|
NM_015275.3(WASHC4):c.3420G>A (p.Ala1140=)
|
rs200172761
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1088G>A (p.Arg363Gln)
|
rs1424377867
|
0.00001
|
|
NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr)
|
rs1215654409
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1648-3C>T
|
rs940176973
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met)
|
rs577011893
|
0.00001
|
|
NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)
|
rs1036751168
|
0.00001
|
|
NM_015295.3(SMCHD1):c.2750T>A (p.Ile917Asn)
|
rs745803825
|
0.00001
|
|
NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)
|
rs749192798
|
0.00001
|
|
NM_015295.3(SMCHD1):c.2861T>C (p.Leu954Ser)
|
rs1404860769
|
0.00001
|
|
NM_015295.3(SMCHD1):c.2934T>G (p.Leu978=)
|
rs2510085106
|
0.00001
|
|
NM_015295.3(SMCHD1):c.2953T>G (p.Cys985Gly)
|
rs893424523
|
0.00001
|
|
NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)
|
rs756532473
|
0.00001
|
|
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His)
|
rs746741499
|
0.00001
|
|
NM_015295.3(SMCHD1):c.4281T>C (p.Asn1427=)
|
rs757680634
|
0.00001
|
|
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser)
|
rs767898877
|
0.00001
|
|
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His)
|
rs756166672
|
0.00001
|
|
NM_015295.3(SMCHD1):c.4700A>G (p.Asn1567Ser)
|
rs750920961
|
0.00001
|
|
NM_015295.3(SMCHD1):c.482G>T (p.Gly161Val)
|
rs376920153
|
0.00001
|
|
NM_015295.3(SMCHD1):c.5175+3T>C
|
rs751445777
|
0.00001
|
|
NM_015295.3(SMCHD1):c.5396T>G (p.Leu1799Trp)
|
rs1008517374
|
0.00001
|
|
NM_015295.3(SMCHD1):c.5738G>A (p.Arg1913His)
|
rs773099791
|
0.00001
|
|
NM_015295.3(SMCHD1):c.5893C>T (p.Arg1965Cys)
|
rs750136221
|
0.00001
|
|
NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)
|
rs368349787
|
0.00001
|
|
NM_015330.6(SPECC1L):c.1997A>G (p.Asn666Ser)
|
rs2517656822
|
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_015335.5(MED13L):c.1067T>G (p.Met356Arg)
|
rs757904452
|
0.00001
|
|
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val)
|
rs775442091
|
0.00001
|
|
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)
|
rs752891084
|
0.00001
|
|
NM_015335.5(MED13L):c.227T>C (p.Val76Ala)
|
rs766945145
|
0.00001
|
|
NM_015335.5(MED13L):c.2598C>T (p.Pro866=)
|
rs776039984
|
0.00001
|
|
NM_015335.5(MED13L):c.2952A>G (p.Gln984=)
|
rs1592929406
|
0.00001
|
|
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)
|
rs776268079
|
0.00001
|
|
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
|
rs1342461504
|
0.00001
|
|
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)
|
rs1413572367
|
0.00001
|
|
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
|
rs774432060
|
0.00001
|
|
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)
|
rs1325524709
|
0.00001
|
|
NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys)
|
rs1415471931
|
0.00001
|
|
NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala)
|
rs2011922573
|
0.00001
|
|
NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp)
|
rs768021025
|
0.00001
|
|
NM_015340.4(LARS2):c.2572C>A (p.Gln858Lys)
|
rs777893707
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6757A>G (p.Ile2253Val)
|
rs202150854
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6922C>T (p.Arg2308Cys)
|
rs756020172
|
0.00001
|
|
NM_015354.3(NUP188):c.1355G>A (p.Arg452Gln)
|
rs779171698
|
0.00001
|
|
NM_015375.3(DSTYK):c.1137C>T (p.Asp379=)
|
rs776840764
|
0.00001
|
|
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
|
rs745892936
|
0.00001
|
|
NM_015386.3(COG4):c.1169C>T (p.Ser390Phe)
|
rs753592053
|
0.00001
|
|
NM_015386.3(COG4):c.946A>C (p.Arg316=)
|
rs562902773
|
0.00001
|
|
NM_015425.6(POLR1A):c.4501C>T (p.Arg1501Trp)
|
rs1192976738
|
0.00001
|
|
NM_015443.4(KANSL1):c.2040T>G (p.His680Gln)
|
rs1418595836
|
0.00001
|
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
|
NM_015465.5(GEMIN5):c.4263-4C>G
|
rs757051838
|
0.00001
|
|
NM_015466.4(PTPN23):c.1708C>T (p.Arg570Cys)
|
rs765847614
|
0.00001
|
|
NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)
|
rs780877957
|
0.00001
|
|
NM_015466.4(PTPN23):c.3995G>A (p.Arg1332His)
|
rs730882229
|
0.00001
|
|
NM_015466.4(PTPN23):c.759T>A (p.His253Gln)
|
rs139838618
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1562A>G (p.Tyr521Cys)
|
rs1335492611
|
0.00001
|
|
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
|
rs1323856934
|
0.00001
|
|
NM_015559.3(SETBP1):c.1066A>C (p.Lys356Gln)
|
rs1245994966
|
0.00001
|
|
NM_015559.3(SETBP1):c.1667T>C (p.Leu556Pro)
|
rs1473928541
|
0.00001
|
|
NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln)
|
rs760185109
|
0.00001
|
|
NM_015559.3(SETBP1):c.2009A>G (p.Lys670Arg)
|
rs562900732
|
0.00001
|
|
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln)
|
rs759901142
|
0.00001
|
|
NM_015559.3(SETBP1):c.2923A>G (p.Thr975Ala)
|
rs1443631288
|
0.00001
|
|
NM_015559.3(SETBP1):c.3367A>C (p.Met1123Leu)
|
rs766776747
|
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.3926A>G (p.Tyr1309Cys)
|
rs778118309
|
0.00001
|
|
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val)
|
rs1486460574
|
0.00001
|
|
NM_015570.4(AUTS2):c.1203C>T (p.Leu401=)
|
rs1386353444
|
0.00001
|
|
NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)
|
rs1200180254
|
0.00001
|
|
NM_015570.4(AUTS2):c.128C>T (p.Thr43Ile)
|
rs945733678
|
0.00001
|
|
NM_015570.4(AUTS2):c.1908A>G (p.Thr636=)
|
rs573488864
|
0.00001
|
|
NM_015570.4(AUTS2):c.2396C>T (p.Thr799Met)
|
rs780749241
|
0.00001
|
|
NM_015570.4(AUTS2):c.2750C>T (p.Pro917Leu)
|
rs1051457112
|
0.00001
|
|
NM_015570.4(AUTS2):c.3001C>G (p.Arg1001Gly)
|
rs1026130789
|
0.00001
|
|
NM_015570.4(AUTS2):c.3643G>A (p.Ala1215Thr)
|
rs768354002
|
0.00001
|
|
NM_015570.4(AUTS2):c.603C>T (p.Ser201=)
|
rs1805486954
|
0.00001
|
|
NM_015570.4(AUTS2):c.626G>A (p.Ser209Asn)
|
rs373179538
|
0.00001
|
|
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)
|
rs774568856
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met)
|
rs377375784
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu)
|
rs760733600
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln)
|
rs773422033
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)
|
rs963791878
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
|
rs756494668
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp)
|
rs770895707
|
0.00001
|
|
NM_015631.6(TCTN3):c.1456A>G (p.Ile486Val)
|
rs760863463
|
0.00001
|
|
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
|
rs1314035160
|
0.00001
|
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
|
NM_015713.5(RRM2B):c.475A>G (p.Ile159Val)
|
rs863224190
|
0.00001
|
|
NM_015721.3(GEMIN4):c.1405A>G (p.Arg469Gly)
|
rs569348159
|
0.00001
|
|
NM_015910.7(WDPCP):c.601A>G (p.Arg201Gly)
|
rs1376686758
|
0.00001
|
|
NM_015915.5(ATL1):c.1602C>A (p.His534Gln)
|
rs752327695
|
0.00001
|
|
NM_015932.6(POMP):c.95G>A (p.Arg32Gln)
|
rs775956827
|
0.00001
|
|
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met)
|
rs1466637488
|
0.00001
|
|
NM_016008.4(DYNC2LI1):c.326T>A (p.Phe109Tyr)
|
rs535890611
|
0.00001
|
|
NM_016023.5(OTUD6B):c.316-1622G>A
|
rs1027999949
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.329-2dup
|
rs763845850
|
0.00001
|
|
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
|
rs2489891536
|
0.00001
|
|
NM_016097.5(IER3IP1):c.137C>T (p.Pro46Leu)
|
rs779559244
|
0.00001
|
|
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
|
rs373899324
|
0.00001
|
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
|
NM_016188.5(ACTL6B):c.26-5C>T
|
rs373516447
|
0.00001
|
|
NM_016188.5(ACTL6B):c.356T>C (p.Met119Thr)
|
rs1288430540
|
0.00001
|
|
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)
|
rs747962927
|
0.00001
|
|
NM_016194.4(GNB5):c.337T>C (p.Trp113Arg)
|
rs527321236
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-3C>A
|
rs773864390
|
0.00001
|
|
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)
|
rs1486994359
|
0.00001
|
|
NM_016213.5(TRIP4):c.137G>A (p.Arg46Gln)
|
rs202164400
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
|
rs201972783
|
0.00001
|
|
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)
|
rs756798489
|
0.00001
|
|
NM_016239.4(MYO15A):c.2766G>A (p.Val922=)
|
rs2045932849
|
0.00001
|
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
|
NM_016247.4(IMPG2):c.2579G>A (p.Gly860Asp)
|
rs147205911
|
0.00001
|
|
NM_016284.5(CNOT1):c.5048G>A (p.Arg1683His)
|
rs1484340539
|
0.00001
|
|
NM_016310.5(POLR3K):c.122G>A (p.Arg41Gln)
|
rs756414577
|
0.00001
|
|
NM_016341.4(PLCE1):c.6570G>C (p.Leu2190Phe)
|
rs2053934798
|
0.00001
|
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
0.00001
|
|
NM_016373.4(WWOX):c.708C>G (p.His236Gln)
|
rs745681407
|
0.00001
|
|
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys)
|
rs781683643
|
0.00001
|
|
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
|
rs1015253382
|
0.00001
|
|
NM_016532.4(INPP5K):c.32G>A (p.Gly11Asp)
|
rs766695932
|
0.00001
|
|
NM_016580.4(PCDH12):c.3419C>T (p.Ser1140Leu)
|
rs756414503
|
0.00001
|
|
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
|
rs769755168
|
0.00001
|
|
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
|
rs779103933
|
0.00001
|
|
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
|
rs917474848
|
0.00001
|
|
NM_016648.4(LARP7):c.1427C>T (p.Ala476Val)
|
rs756863241
|
0.00001
|
|
NM_016648.4(LARP7):c.388-40G>A
|
rs753453551
|
0.00001
|
|
NM_016734.3(PAX5):c.1016G>A (p.Ser339Asn)
|
rs1389188260
|
0.00001
|
|
NM_016932.5(SIX2):c.230C>T (p.Pro77Leu)
|
rs757211278
|
0.00001
|
|
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys)
|
rs762409753
|
0.00001
|
|
NM_016953.4(PDE11A):c.2422C>T (p.Arg808Ter)
|
rs765162890
|
0.00001
|
|
NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)
|
rs755396694
|
0.00001
|
|
NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln)
|
rs764099857
|
0.00001
|
|
NM_017534.6(MYH2):c.1267G>A (p.Val423Met)
|
rs1433670000
|
0.00001
|
|
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys)
|
rs756281353
|
0.00001
|
|
NM_017534.6(MYH2):c.1395T>C (p.Ile465=)
|
rs2073520703
|
0.00001
|
|
NM_017534.6(MYH2):c.1492G>A (p.Val498Met)
|
rs374726398
|
0.00001
|
|
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val)
|
rs894307740
|
0.00001
|
|
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr)
|
rs757972369
|
0.00001
|
|
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser)
|
rs778516827
|
0.00001
|
|
NM_017534.6(MYH2):c.18A>T (p.Glu6Asp)
|
rs767327447
|
0.00001
|
|
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser)
|
rs761148856
|
0.00001
|
|
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met)
|
rs771139007
|
0.00001
|
|
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)
|
rs150566222
|
0.00001
|
|
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn)
|
rs201945489
|
0.00001
|
|
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys)
|
rs1373237213
|
0.00001
|
|
NM_017534.6(MYH2):c.3011C>A (p.Ala1004Asp)
|
rs557880529
|
0.00001
|
|
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val)
|
rs771807032
|
0.00001
|
|
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln)
|
rs778993350
|
0.00001
|
|
NM_017534.6(MYH2):c.3475G>T (p.Ala1159Ser)
|
rs2508428827
|
0.00001
|
|
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln)
|
rs886043621
|
0.00001
|
|
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln)
|
rs139755852
|
0.00001
|
|
NM_017534.6(MYH2):c.3745-3T>C
|
rs1305490194
|
0.00001
|
|
NM_017534.6(MYH2):c.3777G>A (p.Glu1259=)
|
rs1139429
|
0.00001
|
|
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro)
|
rs1380534578
|
0.00001
|
|
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys)
|
rs374190003
|
0.00001
|
|
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val)
|
rs770023922
|
0.00001
|
|
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys)
|
rs368304404
|
0.00001
|
|
NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)
|
rs1444622651
|
0.00001
|
|
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)
|
rs529367667
|
0.00001
|
|
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)
|
rs1030177193
|
0.00001
|
|
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln)
|
rs1321342402
|
0.00001
|
|
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter)
|
rs769712128
|
0.00001
|
|
NM_017534.6(MYH2):c.5513G>A (p.Arg1838His)
|
rs117081954
|
0.00001
|
|
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
|
rs150705907
|
0.00001
|
|
NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)
|
rs759145892
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp)
|
rs759834538
|
0.00001
|
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala)
|
rs1843012616
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr)
|
rs371414501
|
0.00001
|
|
NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp)
|
rs769344868
|
0.00001
|
|
NM_017636.4(TRPM4):c.431G>A (p.Arg144Gln)
|
rs755372426
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)
|
rs1240076813
|
0.00001
|
|
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)
|
rs367739982
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)
|
rs138745073
|
0.00001
|
|
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)
|
rs768700187
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu)
|
rs375845761
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1321T>C (p.Tyr441His)
|
rs1159448994
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu)
|
rs764394085
|
0.00001
|
|
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile)
|
rs766383336
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1645C>T (p.Leu549Phe)
|
rs747147491
|
0.00001
|
|
NM_017739.4(POMGNT1):c.230A>G (p.Asp77Gly)
|
rs1387865839
|
0.00001
|
|
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu)
|
rs1459243404
|
0.00001
|
|
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu)
|
rs770366321
|
0.00001
|
|
NM_017739.4(POMGNT1):c.496A>G (p.Met166Val)
|
rs1658192299
|
0.00001
|
|
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val)
|
rs200643988
|
0.00001
|
|
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His)
|
rs748559972
|
0.00001
|
|
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)
|
rs767391744
|
0.00001
|
|
NM_017760.7(NCAPG2):c.2480G>A (p.Arg827His)
|
rs774264384
|
0.00001
|
|
NM_017760.7(NCAPG2):c.2621G>C (p.Arg874Thr)
|
rs774364803
|
0.00001
|
|
NM_017760.7(NCAPG2):c.733G>A (p.Gly245Arg)
|
rs1299397260
|
0.00001
|
|
NM_017763.6(RNF43):c.1360C>T (p.Arg454Cys)
|
rs1055597951
|
0.00001
|
|
NM_017777.4(MKS1):c.873C>G (p.His291Gln)
|
rs1968929550
|
0.00001
|
|
NM_017780.4(CHD7):c.1309C>T (p.His437Tyr)
|
rs1461912534
|
0.00001
|
|
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln)
|
rs1384228127
|
0.00001
|
|
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
|
rs755896254
|
0.00001
|
|
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln)
|
rs372644599
|
0.00001
|
|
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
|
rs199966549
|
0.00001
|
|
NM_017780.4(CHD7):c.8225A>G (p.Asn2742Ser)
|
rs1416636387
|
0.00001
|
|
NM_017799.4(TMEM260):c.604C>T (p.Pro202Ser)
|
rs751129296
|
0.00001
|
|
NM_017849.4(TMEM127):c.245-3C>T
|
rs181429509
|
0.00001
|
|
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)
|
rs750870974
|
0.00001
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
0.00001
|
|
NM_017882.3(CLN6):c.700T>C (p.Phe234Leu)
|
rs959199004
|
0.00001
|
|
NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser)
|
rs1770841090
|
0.00001
|
|
NM_017934.7(PHIP):c.2041G>A (p.Val681Ile)
|
rs753967999
|
0.00001
|
|
NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)
|
rs778714691
|
0.00001
|
|
NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)
|
rs776162259
|
0.00001
|
|
NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)
|
rs368703514
|
0.00001
|
|
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
|
rs779599093
|
0.00001
|
|
NM_017950.4(CCDC40):c.3103G>A (p.Glu1035Lys)
|
rs1452859091
|
0.00001
|
|
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val)
|
rs369522039
|
0.00001
|
|
NM_017950.4(CCDC40):c.466G>A (p.Val156Ile)
|
rs2037239346
|
0.00001
|
|
NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg)
|
rs760043663
|
0.00001
|
|
NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)
|
rs762020230
|
0.00001
|
|
NM_018026.4(PACS1):c.444+9G>A
|
rs748523504
|
0.00001
|
|
NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)
|
rs773415096
|
0.00001
|
|
NM_018051.5(DYNC2I1):c.407A>C (p.Gln136Pro)
|
rs781030406
|
0.00001
|
|
NM_018052.5(VAC14):c.1063G>A (p.Asp355Asn)
|
rs767382527
|
0.00001
|
|
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
|
rs202162281
|
0.00001
|
|
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
|
rs1261180519
|
0.00001
|
|
NM_018082.6(POLR3B):c.2579G>T (p.Gly860Val)
|
rs2037966661
|
0.00001
|
|
NM_018082.6(POLR3B):c.308G>A (p.Arg103His)
|
rs780148992
|
0.00001
|
|
NM_018082.6(POLR3B):c.733G>A (p.Val245Ile)
|
rs751975109
|
0.00001
|
|
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)
|
rs574948354
|
0.00001
|
|
NM_018122.5(DARS2):c.1028A>G (p.Asp343Gly)
|
rs200537352
|
0.00001
|
|
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp)
|
rs1157458251
|
0.00001
|
|
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)
|
rs549477447
|
0.00001
|
|
NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr)
|
rs1024816244
|
0.00001
|
|
NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)
|
rs778523464
|
0.00001
|
|
NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)
|
rs768169498
|
0.00001
|
|
NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)
|
rs1329837493
|
0.00001
|
|
NM_018136.5(ASPM):c.441+5T>G
|
rs1359443986
|
0.00001
|
|
NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)
|
rs753771321
|
0.00001
|
|
NM_018196.4(TMLHE):c.230G>A (p.Arg77Gln)
|
rs373294094
|
0.00001
|
|
NM_018196.4(TMLHE):c.359-2A>G
|
rs782792356
|
0.00001
|
|
NM_018238.4(AGK):c.701C>T (p.Ala234Val)
|
rs745464486
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.377A>G (p.Lys126Arg)
|
rs567442825
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.4269G>C (p.Leu1423Phe)
|
rs1227338753
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)
|
rs572551421
|
0.00001
|
|
NM_018263.6(ASXL2):c.4000T>G (p.Ser1334Ala)
|
rs191895729
|
0.00001
|
|
NM_018263.6(ASXL2):c.4061T>C (p.Val1354Ala)
|
rs778738425
|
0.00001
|
|
NM_018297.4(NGLY1):c.1315G>T (p.Val439Leu)
|
rs1202673994
|
0.00001
|
|
NM_018417.6(ADCY10):c.2971G>T (p.Ala991Ser)
|
rs1385104058
|
0.00001
|
|
NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)
|
rs549534181
|
0.00001
|
|
NM_018451.5(CPAP):c.2228A>G (p.Asp743Gly)
|
rs767072676
|
0.00001
|
|
NM_018489.3(ASH1L):c.1607G>T (p.Gly536Val)
|
rs375895779
|
0.00001
|
|
NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr)
|
rs767107285
|
0.00001
|
|
NM_018489.3(ASH1L):c.221C>T (p.Ser74Leu)
|
rs769272721
|
0.00001
|
|
NM_018489.3(ASH1L):c.2239T>C (p.Cys747Arg)
|
rs770789015
|
0.00001
|
|
NM_018489.3(ASH1L):c.2387G>A (p.Ser796Asn)
|
rs575594491
|
0.00001
|
|
NM_018489.3(ASH1L):c.5038T>G (p.Cys1680Gly)
|
rs1664153552
|
0.00001
|
|
NM_018489.3(ASH1L):c.5371T>G (p.Ser1791Ala)
|
rs1203988797
|
0.00001
|
|
NM_018489.3(ASH1L):c.574A>G (p.Thr192Ala)
|
rs761531673
|
0.00001
|
|
NM_018489.3(ASH1L):c.5801A>T (p.Glu1934Val)
|
rs774332850
|
0.00001
|
|
NM_018489.3(ASH1L):c.7316G>A (p.Arg2439His)
|
rs1175812232
|
0.00001
|
|
NM_018489.3(ASH1L):c.7934G>A (p.Cys2645Tyr)
|
rs765774025
|
0.00001
|
|
NM_018489.3(ASH1L):c.8693G>A (p.Ser2898Asn)
|
rs776971631
|
0.00001
|
|
NM_018489.3(ASH1L):c.960C>T (p.Asn320=)
|
rs1344676096
|
0.00001
|
|
NM_018669.6(WDR4):c.536G>A (p.Ser179Asn)
|
rs2058136322
|
0.00001
|
|
NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)
|
rs759441452
|
0.00001
|
|
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)
|
rs549839896
|
0.00001
|
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
|
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
|
rs948428305
|
0.00001
|
|
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)
|
rs764645698
|
0.00001
|
|
NM_018896.5(CACNA1G):c.4093A>G (p.Met1365Val)
|
rs371893576
|
0.00001
|
|
NM_018896.5(CACNA1G):c.5836G>A (p.Glu1946Lys)
|
rs778419627
|
0.00001
|
|
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
|
rs763847174
|
0.00001
|
|
NM_018965.4(TREM2):c.346A>T (p.Ser116Cys)
|
rs2113879950
|
0.00001
|
|
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)
|
rs140384868
|
0.00001
|
|
NM_018979.4(WNK1):c.5725C>T (p.Pro1909Ser)
|
rs768535371
|
0.00001
|
|
NM_019032.6(ADAMTSL4):c.190G>A (p.Val64Met)
|
rs754048794
|
0.00001
|
|
NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)
|
rs1890410983
|
0.00001
|
|
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
|
rs1018579547
|
0.00001
|
|
NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)
|
rs1256362315
|
0.00001
|
|
NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)
|
rs753289907
|
0.00001
|
|
NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)
|
rs1216919340
|
0.00001
|
|
NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)
|
rs781054761
|
0.00001
|
|
NM_019077.3(UGT1A7):c.817_821dup (p.Ile275fs)
|
rs1192497893
|
0.00001
|
|
NM_019613.4(WDR45B):c.281T>C (p.Ile94Thr)
|
rs746335282
|
0.00001
|
|
NM_019842.4(KCNQ5):c.1876A>G (p.Ile626Val)
|
rs1306739564
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.1147A>G (p.Ile383Val)
|
rs372972480
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.1205T>C (p.Leu402Ser)
|
rs924770778
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.1274A>G (p.Tyr425Cys)
|
rs765389916
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.1363C>G (p.Pro455Ala)
|
rs1565600521
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.1364C>G (p.Pro455Arg)
|
rs759306295
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.956C>G (p.Thr319Ser)
|
rs773440798
|
0.00001
|
|
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe)
|
rs727504003
|
0.00001
|
|
NM_020191.4(MRPS22):c.374G>A (p.Arg125Gln)
|
rs563691172
|
0.00001
|
|
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)
|
rs760889253
|
0.00001
|
|
NM_020297.4(ABCC9):c.4309G>T (p.Gly1437Cys)
|
rs1320941493
|
0.00001
|
|
NM_020297.4(ABCC9):c.971G>A (p.Arg324His)
|
rs886039121
|
0.00001
|
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00001
|
|
NM_020338.4(ZMIZ1):c.2421A>G (p.Gln807=)
|
rs1380703248
|
0.00001
|
|
NM_020338.4(ZMIZ1):c.2602G>A (p.Gly868Ser)
|
rs887582331
|
0.00001
|
|
NM_020361.5(CPA6):c.466C>T (p.His156Tyr)
|
rs368127412
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile)
|
rs759191514
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1010C>T (p.Pro337Leu)
|
rs370723127
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1145A>G (p.Lys382Arg)
|
rs576535942
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1328T>G (p.Leu443Arg)
|
rs568660338
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1336G>A (p.Gly446Ser)
|
rs368507289
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1337G>A (p.Gly446Asp)
|
rs1449497363
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1346G>C (p.Cys449Ser)
|
rs763670300
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1421C>G (p.Pro474Arg)
|
rs1278507202
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1478C>T (p.Pro493Leu)
|
rs995158737
|
0.00001
|
|
NM_020376.4(PNPLA2):c.260C>T (p.Ser87Phe)
|
rs1400446569
|
0.00001
|
|
NM_020376.4(PNPLA2):c.320A>G (p.His107Arg)
|
rs749654266
|
0.00001
|
|
NM_020376.4(PNPLA2):c.448G>A (p.Val150Met)
|
rs745927123
|
0.00001
|
|
NM_020376.4(PNPLA2):c.683C>T (p.Pro228Leu)
|
rs886048708
|
0.00001
|
|
NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly)
|
rs772421048
|
0.00001
|
|
NM_020376.4(PNPLA2):c.982G>T (p.Val328Leu)
|
rs776756549
|
0.00001
|
|
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
|
rs779915700
|
0.00001
|
|
NM_020435.4(GJC2):c.512A>C (p.Glu171Ala)
|
rs546069072
|
0.00001
|
|
NM_020436.5(SALL4):c.1850G>A (p.Arg617Gln)
|
rs1335021912
|
0.00001
|
|
NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys)
|
rs749968347
|
0.00001
|
|
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu)
|
rs763724398
|
0.00001
|
|
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter)
|
rs374398346
|
0.00001
|
|
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter)
|
rs934913626
|
0.00001
|
|
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys)
|
rs761068133
|
0.00001
|
|
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)
|
rs765749301
|
0.00001
|
|
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
|
rs540415870
|
0.00001
|
|
NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)
|
rs767102809
|
0.00001
|
|
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp)
|
rs746994841
|
0.00001
|
|
NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser)
|
rs779096998
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.548A>C (p.Glu183Ala)
|
rs755489573
|
0.00001
|
|
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser)
|
rs749948399
|
0.00001
|
|
NM_020549.5(CHAT):c.1426G>A (p.Glu476Lys)
|
rs766947649
|
0.00001
|
|
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe)
|
rs141878259
|
0.00001
|
|
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys)
|
rs144918120
|
0.00001
|
|
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln)
|
rs141881680
|
0.00001
|
|
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val)
|
rs1313042835
|
0.00001
|
|
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)
|
rs1178039732
|
0.00001
|
|
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn)
|
rs2132727991
|
0.00001
|
|
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)
|
rs551219437
|
0.00001
|
|
NM_020699.4(GATAD2B):c.71G>A (p.Arg24Gln)
|
rs867670850
|
0.00001
|
|
NM_020699.4(GATAD2B):c.854T>C (p.Val285Ala)
|
rs370689496
|
0.00001
|
|
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu)
|
rs529949253
|
0.00001
|
|
NM_020717.5(SHROOM4):c.1747C>T (p.Arg583Trp)
|
rs1557255130
|
0.00001
|
|
NM_020717.5(SHROOM4):c.3160C>T (p.Arg1054Cys)
|
rs1222306259
|
0.00001
|
|
NM_020717.5(SHROOM4):c.3370C>G (p.Gln1124Glu)
|
rs1929748662
|
0.00001
|
|
NM_020738.4(KIDINS220):c.1556C>T (p.Thr519Met)
|
rs376485014
|
0.00001
|
|
NM_020745.4(AARS2):c.368G>T (p.Arg123Leu)
|
rs745761471
|
0.00001
|
|
NM_020745.4(AARS2):c.739C>A (p.Gln247Lys)
|
rs1786301373
|
0.00001
|
|
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
|
rs779342482
|
0.00001
|
|
NM_020751.3(COG6):c.299A>T (p.Glu100Val)
|
rs866336771
|
0.00001
|
|
NM_020754.4(ARHGAP31):c.1220C>A (p.Ala407Asp)
|
rs2080613095
|
0.00001
|
|
NM_020754.4(ARHGAP31):c.1345A>G (p.Lys449Glu)
|
rs755685725
|
0.00001
|
|
NM_020754.4(ARHGAP31):c.3545G>A (p.Ser1182Asn)
|
rs375495965
|
0.00001
|
|
NM_020754.4(ARHGAP31):c.4289G>A (p.Arg1430Gln)
|
rs761090674
|
0.00001
|
|
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)
|
rs761960636
|
0.00001
|
|
NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)
|
rs759955973
|
0.00001
|
|
NM_020778.5(ALPK3):c.3748G>A (p.Glu1250Lys)
|
rs2505722828
|
0.00001
|
|
NM_020812.4(DOCK6):c.3125T>A (p.Met1042Lys)
|
rs753084411
|
0.00001
|
|
NM_020812.4(DOCK6):c.4339-8G>A
|
rs763532223
|
0.00001
|
|
NM_020812.4(DOCK6):c.521G>A (p.Arg174His)
|
rs746304989
|
0.00001
|
|
NM_020822.3(KCNT1):c.1036-3C>T
|
rs761954322
|
0.00001
|
|
NM_020822.3(KCNT1):c.1147A>G (p.Ile383Val)
|
rs897661213
|
0.00001
|
|
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile)
|
rs753874335
|
0.00001
|
|
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
|
rs779639843
|
0.00001
|
|
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
|
rs538197009
|
0.00001
|
|
NM_020822.3(KCNT1):c.2116C>T (p.Arg706Trp)
|
rs1357319591
|
0.00001
|
|
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile)
|
rs1172819191
|
0.00001
|
|
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile)
|
rs776233220
|
0.00001
|
|
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys)
|
rs150395210
|
0.00001
|
|
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
|
rs1432732653
|
0.00001
|
|
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile)
|
rs149436191
|
0.00001
|
|
NM_020884.7(MYH7B):c.2289C>G (p.Tyr763Ter)
|
rs374038000
|
0.00001
|
|
NM_020884.7(MYH7B):c.2335G>A (p.Val779Ile)
|
rs376856126
|
0.00001
|
|
NM_020884.7(MYH7B):c.4096C>T (p.Arg1366Trp)
|
rs746131334
|
0.00001
|
|
NM_020919.4(ALS2):c.3440C>G (p.Ser1147Cys)
|
rs777004596
|
0.00001
|
|
NM_020919.4(ALS2):c.4382G>A (p.Arg1461Gln)
|
rs758889641
|
0.00001
|
|
NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)
|
rs2040935092
|
0.00001
|
|
NM_020928.2(ZSWIM6):c.1280G>A (p.Arg427Gln)
|
rs988985707
|
0.00001
|
|
NM_020928.2(ZSWIM6):c.1351A>G (p.Ile451Val)
|
rs1476488562
|
0.00001
|
|
NM_020928.2(ZSWIM6):c.3038C>T (p.Ala1013Val)
|
rs1385299944
|
0.00001
|
|
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)
|
rs751314954
|
0.00001
|
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
|
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp)
|
rs555879731
|
0.00001
|
|
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)
|
rs752274637
|
0.00001
|
|
NM_020944.3(GBA2):c.341A>G (p.His114Arg)
|
rs1247383766
|
0.00001
|
|
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met)
|
rs201986809
|
0.00001
|
|
NM_020971.3(SPTBN4):c.1570G>T (p.Val524Leu)
|
rs746477778
|
0.00001
|
|
NM_020971.3(SPTBN4):c.2999G>A (p.Arg1000His)
|
rs1274203270
|
0.00001
|
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
|
NM_020987.5(ANK3):c.3997A>G (p.Met1333Val)
|
rs1361949107
|
0.00001
|
|
NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser)
|
rs374115337
|
0.00001
|
|
NM_020988.3(GNAO1):c.499G>A (p.Asp167Asn)
|
rs2037724346
|
0.00001
|
|
NM_020988.3(GNAO1):c.556G>A (p.Val186Ile)
|
rs1331690209
|
0.00001
|
|
NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser)
|
rs746520767
|
0.00001
|
|
NM_021008.4(DEAF1):c.1210G>A (p.Ala404Thr)
|
rs908349407
|
0.00001
|
|
NM_021008.4(DEAF1):c.689_690del (p.Gln230fs)
|
rs1860621399
|
0.00001
|
|
NM_021020.5(LZTS1):c.989T>C (p.Val330Ala)
|
rs1799974197
|
0.00001
|
|
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln)
|
rs1351333514
|
0.00001
|
|
NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile)
|
rs766768359
|
0.00001
|
|
NM_021072.4(HCN1):c.907G>A (p.Gly303Ser)
|
rs1214072611
|
0.00001
|
|
NM_021076.4(NEFH):c.1055G>A (p.Arg352His)
|
rs750088241
|
0.00001
|
|
NM_021076.4(NEFH):c.1147C>T (p.Arg383Ter)
|
rs2063040819
|
0.00001
|
|
NM_021076.4(NEFH):c.2048C>T (p.Pro683Leu)
|
rs753377717
|
0.00001
|
|
NM_021076.4(NEFH):c.2878G>A (p.Glu960Lys)
|
rs1209300905
|
0.00001
|
|
NM_021076.4(NEFH):c.2891A>T (p.Lys964Met)
|
rs1193204827
|
0.00001
|
|
NM_021083.4(XK):c.200C>T (p.Pro67Leu)
|
rs2519135936
|
0.00001
|
|
NM_021083.4(XK):c.794A>G (p.Glu265Gly)
|
rs782364274
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3104C>T (p.Ser1035Leu)
|
rs754242338
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys)
|
rs766406727
|
0.00001
|
|
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile)
|
rs1015123563
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met)
|
rs754276994
|
0.00001
|
|
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
|
rs773167797
|
0.00001
|
|
NM_021102.4(SPINT2):c.122C>T (p.Ser41Leu)
|
rs370877740
|
0.00001
|
|
NM_021120.4(DLG3):c.1138T>C (p.Phe380Leu)
|
rs749973560
|
0.00001
|
|
NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr)
|
rs778121904
|
0.00001
|
|
NM_021224.6(ZNF462):c.6571C>T (p.Leu2191Phe)
|
rs778758864
|
0.00001
|
|
NM_021625.5(TRPV4):c.1405G>A (p.Val469Ile)
|
rs369637458
|
0.00001
|
|
NM_021625.5(TRPV4):c.317C>A (p.Ser106Ter)
|
rs141863643
|
0.00001
|
|
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter)
|
rs773622769
|
0.00001
|
|
NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)
|
rs1269834528
|
0.00001
|
|
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu)
|
rs765428136
|
0.00001
|
|
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr)
|
rs200286711
|
0.00001
|
|
NM_021815.5(SLC5A7):c.25A>G (p.Ile9Val)
|
rs986550712
|
0.00001
|
|
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
|
rs974644154
|
0.00001
|
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
|
NM_021830.5(TWNK):c.1972G>A (p.Gly658Arg)
|
rs868535097
|
0.00001
|
|
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn)
|
rs146532064
|
0.00001
|
|
NM_021830.5(TWNK):c.631C>T (p.Pro211Ser)
|
rs766599320
|
0.00001
|
|
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)
|
rs749697038
|
0.00001
|
|
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
|
rs533815063
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)
|
rs146470172
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1208G>A (p.Ser403Asn)
|
rs761391260
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr)
|
rs756747035
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg)
|
rs1293322252
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg)
|
rs981293069
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val)
|
rs368529822
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val)
|
rs777107611
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu)
|
rs1190622743
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu)
|
rs774887816
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)
|
rs2476915446
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His)
|
rs781082721
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr)
|
rs765136046
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly)
|
rs1398795151
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala)
|
rs755600230
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr)
|
rs375415831
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)
|
rs764158202
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.301T>C (p.Tyr101His)
|
rs557884886
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.3189+1G>A
|
rs1170374164
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser)
|
rs1319124548
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala)
|
rs866236252
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly)
|
rs1737388498
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp)
|
rs532605756
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln)
|
rs368097747
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.660+5G>A
|
rs770891745
|
0.00001
|
|
NM_021957.4(GYS2):c.601A>T (p.Ile201Leu)
|
rs757163733
|
0.00001
|
|
NM_021964.3(ZNF148):c.863G>T (p.Cys288Phe)
|
rs1935964718
|
0.00001
|
|
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu)
|
rs1409825474
|
0.00001
|
|
NM_021971.4(GMPPB):c.280C>G (p.Arg94Gly)
|
rs765169109
|
0.00001
|
|
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)
|
rs145535498
|
0.00001
|
|
NM_021971.4(GMPPB):c.478G>A (p.Val160Met)
|
rs752805529
|
0.00001
|
|
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)
|
rs746357591
|
0.00001
|
|
NM_021971.4(GMPPB):c.784A>G (p.Ile262Val)
|
rs1412198244
|
0.00001
|
|
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
|
rs1230808770
|
0.00001
|
|
NM_021971.4(GMPPB):c.951+26G>A
|
rs1255496598
|
0.00001
|
|
NM_021971.4(GMPPB):c.952-12C>T
|
rs969160309
|
0.00001
|
|
NM_022041.4(GAN):c.572A>G (p.Asn191Ser)
|
rs139748896
|
0.00001
|
|
NM_022041.4(GAN):c.804C>G (p.Pro268=)
|
rs770806169
|
0.00001
|
|
NM_022042.4(SLC26A1):c.1051G>A (p.Val351Met)
|
rs757517635
|
0.00001
|
|
NM_022042.4(SLC26A1):c.1295C>T (p.Pro432Leu)
|
rs1044204124
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
|
rs774585729
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His)
|
rs1050384310
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His)
|
rs150748722
|
0.00001
|
|
NM_022095.4(ZNF335):c.3274C>T (p.Arg1092Trp)
|
rs1460382390
|
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.5611G>A (p.Ala1871Thr)
|
rs766404226
|
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.284C>T (p.Ser95Phe)
|
rs553264818
|
0.00001
|
|
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn)
|
rs1683546966
|
0.00001
|
|
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)
|
rs201472224
|
0.00001
|
|
NM_022168.4(IFIH1):c.2891G>A (p.Cys964Tyr)
|
rs1388945749
|
0.00001
|
|
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
|
rs1423655284
|
0.00001
|
|
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile)
|
rs1256109895
|
0.00001
|
|
NM_022173.4(TIA1):c.223-3T>C
|
rs750261656
|
0.00001
|
|
NM_022173.4(TIA1):c.283A>T (p.Thr95Ser)
|
rs767534980
|
0.00001
|
|
NM_022173.4(TIA1):c.313C>T (p.His105Tyr)
|
rs775798661
|
0.00001
|
|
NM_022173.4(TIA1):c.356C>A (p.Thr119Asn)
|
rs369169848
|
0.00001
|
|
NM_022173.4(TIA1):c.398C>T (p.Ser133Leu)
|
rs375191972
|
0.00001
|
|
NM_022173.4(TIA1):c.692G>A (p.Arg231His)
|
rs1379346485
|
0.00001
|
|
NM_022173.4(TIA1):c.821T>C (p.Ile274Thr)
|
rs994113365
|
0.00001
|
|
NM_022173.4(TIA1):c.991G>A (p.Ala331Thr)
|
rs797002530
|
0.00001
|
|
NM_022370.4(ROBO3):c.3932C>T (p.Ala1311Val)
|
rs778999083
|
0.00001
|
|
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met)
|
rs148131742
|
0.00001
|
|
NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)
|
rs375364242
|
0.00001
|
|
NM_022436.3(ABCG5):c.538G>A (p.Val180Met)
|
rs761153980
|
0.00001
|
|
NM_022436.3(ABCG5):c.775C>T (p.Leu259Phe)
|
rs528693183
|
0.00001
|
|
NM_022437.3(ABCG8):c.1061G>T (p.Arg354Leu)
|
rs142346631
|
0.00001
|
|
NM_022437.3(ABCG8):c.1301T>C (p.Leu434Pro)
|
rs1034215066
|
0.00001
|
|
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
|
rs748636100
|
0.00001
|
|
NM_022437.3(ABCG8):c.1333T>G (p.Phe445Val)
|
rs376492876
|
0.00001
|
|
NM_022437.3(ABCG8):c.1571G>A (p.Gly524Asp)
|
rs146962338
|
0.00001
|
|
NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg)
|
rs750730480
|
0.00001
|
|
NM_022437.3(ABCG8):c.1994T>G (p.Ile665Ser)
|
rs969569759
|
0.00001
|
|
NM_022437.3(ABCG8):c.406G>T (p.Gly136Trp)
|
rs1668919784
|
0.00001
|
|
NM_022437.3(ABCG8):c.593G>T (p.Arg198Met)
|
rs777258651
|
0.00001
|
|
NM_022437.3(ABCG8):c.617G>A (p.Gly206Asp)
|
rs570410152
|
0.00001
|
|
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe)
|
rs760881424
|
0.00001
|
|
NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)
|
rs907595094
|
0.00001
|
|
NM_022445.4(TPK1):c.620A>T (p.Asp207Val)
|
rs747262651
|
0.00001
|
|
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp)
|
rs1765619618
|
0.00001
|
|
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro)
|
rs770174512
|
0.00001
|
|
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
|
rs758831626
|
0.00001
|
|
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
|
rs2534008565
|
0.00001
|
|
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
|
rs749736520
|
0.00001
|
|
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
|
rs1403348127
|
0.00001
|
|
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
|
rs1470293930
|
0.00001
|
|
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
|
rs530991274
|
0.00001
|
|
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
|
rs200516067
|
0.00001
|
|
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
|
rs1262083075
|
0.00001
|
|
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
|
rs781449770
|
0.00001
|
|
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
|
rs1768669123
|
0.00001
|
|
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
|
rs754486382
|
0.00001
|
|
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
|
rs1448440159
|
0.00001
|
|
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
|
rs758955215
|
0.00001
|
|
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
|
rs921440617
|
0.00001
|
|
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
|
rs774835703
|
0.00001
|
|
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
|
rs1430774125
|
0.00001
|
|
NM_022489.4(INF2):c.2150G>A (p.Arg717Gln)
|
rs769493931
|
0.00001
|
|
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)
|
rs774099930
|
0.00001
|
|
NM_022489.4(INF2):c.3249C>T (p.Ser1083=)
|
rs776501374
|
0.00001
|
|
NM_022569.3(NDST4):c.2035C>T (p.Arg679Ter)
|
rs760252865
|
0.00001
|
|
NM_022726.4(ELOVL4):c.80G>T (p.Arg27Leu)
|
rs575090957
|
0.00001
|
|
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe)
|
rs1337014971
|
0.00001
|
|
NM_022829.6(SLC13A3):c.1757A>G (p.Asn586Ser)
|
rs201877988
|
0.00001
|
|
NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg)
|
rs147322058
|
0.00001
|
|
NM_022893.4(BCL11A):c.1816G>A (p.Gly606Ser)
|
rs762418191
|
0.00001
|
|
NM_023068.4(SIGLEC1):c.3673C>T (p.Arg1225Cys)
|
rs1174592885
|
0.00001
|
|
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn)
|
rs1586379709
|
0.00001
|
|
NM_024009.3(GJB3):c.506C>T (p.Pro169Leu)
|
rs978300170
|
0.00001
|
|
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)
|
rs777812455
|
0.00001
|
|
NM_024079.5(ALG8):c.36T>C (p.Asn12=)
|
rs1179361051
|
0.00001
|
|
NM_024079.5(ALG8):c.558G>A (p.Met186Ile)
|
rs531760134
|
0.00001
|
|
NM_024301.5(FKRP):c.1435G>A (p.Glu479Lys)
|
rs1599940588
|
0.00001
|
|
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)
|
rs373244438
|
0.00001
|
|
NM_024301.5(FKRP):c.315G>T (p.Gln105His)
|
rs765444642
|
0.00001
|
|
NM_024301.5(FKRP):c.385G>C (p.Val129Leu)
|
rs747642602
|
0.00001
|
|
NM_024301.5(FKRP):c.59T>C (p.Val20Ala)
|
rs750241299
|
0.00001
|
|
NM_024301.5(FKRP):c.739C>T (p.Pro247Ser)
|
rs1000823800
|
0.00001
|
|
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)
|
rs757955092
|
0.00001
|
|
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg)
|
rs886043401
|
0.00001
|
|
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)
|
rs104894679
|
0.00001
|
|
NM_024301.5(FKRP):c.982_984del (p.Tyr328del)
|
rs886043458
|
0.00001
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
0.00001
|
|
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr)
|
rs772317634
|
0.00001
|
|
NM_024334.3(TMEM43):c.90C>T (p.Ser30=)
|
rs373839281
|
0.00001
|
|
NM_024339.5(THOC6):c.772C>T (p.Arg258Trp)
|
rs772524171
|
0.00001
|
|
NM_024408.4(NOTCH2):c.2238T>G (p.Asp746Glu)
|
rs1650573582
|
0.00001
|
|
NM_024408.4(NOTCH2):c.2345C>T (p.Thr782Ile)
|
rs781814481
|
0.00001
|
|
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)
|
rs782078365
|
0.00001
|
|
NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)
|
rs764641032
|
0.00001
|
|
NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)
|
rs587650529
|
0.00001
|
|
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)
|
rs139052054
|
0.00001
|
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
|
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)
|
rs1172760612
|
0.00001
|
|
NM_024496.4(IRF2BPL):c.1058C>T (p.Ala353Val)
|
rs779313729
|
0.00001
|
|
NM_024496.4(IRF2BPL):c.1807C>G (p.Leu603Val)
|
rs761261607
|
0.00001
|
|
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)
|
rs776519655
|
0.00001
|
|
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser)
|
rs746241006
|
0.00001
|
|
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)
|
rs201789838
|
0.00001
|
|
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
|
rs756857216
|
0.00001
|
|
NM_024589.3(ROGDI):c.795G>A (p.Leu265=)
|
rs749782882
|
0.00001
|
|
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn)
|
rs374363568
|
0.00001
|
|
NM_024597.4(MAP7D3):c.2213A>G (p.His738Arg)
|
rs1377500420
|
0.00001
|
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
|
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)
|
rs533814557
|
0.00001
|
|
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)
|
rs1417779335
|
0.00001
|
|
NM_024678.6(NARS2):c.500A>G (p.His167Arg)
|
rs750594551
|
0.00001
|
|
NM_024741.3(ZNF408):c.1589C>T (p.Ala530Val)
|
rs549763290
|
0.00001
|
|
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe)
|
rs866512456
|
0.00001
|
|
NM_024757.5(EHMT1):c.3397A>G (p.Thr1133Ala)
|
rs1955011388
|
0.00001
|
|
NM_024757.5(EHMT1):c.3406A>G (p.Met1136Val)
|
rs758813561
|
0.00001
|
|
NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys)
|
rs746915084
|
0.00001
|
|
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
|
rs767528432
|
0.00001
|
|
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser)
|
rs576835969
|
0.00001
|
|
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)
|
rs779286671
|
0.00001
|
|
NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys)
|
rs1313029408
|
0.00001
|
|
NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val)
|
rs1443276126
|
0.00001
|
|
NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys)
|
rs372605917
|
0.00001
|
|
NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val)
|
rs779649683
|
0.00001
|
|
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
|
rs758206104
|
0.00001
|
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
rs767529344
|
0.00001
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
0.00001
|
|
NM_025114.4(CEP290):c.473A>G (p.Glu158Gly)
|
rs752236431
|
0.00001
|
|
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys)
|
rs746576984
|
0.00001
|
|
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)
|
rs762238709
|
0.00001
|
|
NM_025137.4(SPG11):c.1736-756C>T
|
rs2084016289
|
0.00001
|
|
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu)
|
rs752165478
|
0.00001
|
|
NM_025137.4(SPG11):c.77T>C (p.Leu26Pro)
|
rs757155556
|
0.00001
|
|
NM_025137.4(SPG11):c.805G>A (p.Asp269Asn)
|
rs759231633
|
0.00001
|
|
NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)
|
rs1168933295
|
0.00001
|
|
NM_025184.4(EFHC2):c.138A>T (p.Glu46Asp)
|
rs747600946
|
0.00001
|
|
NM_030625.3(TET1):c.5716G>A (p.Glu1906Lys)
|
rs757931991
|
0.00001
|
|
NM_030632.3(ASXL3):c.1716A>G (p.Ile572Met)
|
rs1334155381
|
0.00001
|
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
|
NM_030632.3(ASXL3):c.3526C>T (p.Arg1176Trp)
|
rs770226543
|
0.00001
|
|
NM_030632.3(ASXL3):c.4228C>T (p.His1410Tyr)
|
rs762337223
|
0.00001
|
|
NM_030632.3(ASXL3):c.4336A>T (p.Arg1446Trp)
|
rs773736437
|
0.00001
|
|
NM_030632.3(ASXL3):c.4490G>C (p.Ser1497Thr)
|
rs754788550
|
0.00001
|
|
NM_030632.3(ASXL3):c.641T>C (p.Met214Thr)
|
rs1475880373
|
0.00001
|
|
NM_030632.3(ASXL3):c.6586C>G (p.Pro2196Ala)
|
rs752151003
|
0.00001
|
|
NM_030650.3(LNPK):c.1110A>G (p.Ile370Met)
|
rs1349801010
|
0.00001
|
|
NM_030650.3(LNPK):c.757C>T (p.Arg253Ter)
|
rs760073880
|
0.00001
|
|
NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr)
|
rs1350721449
|
0.00001
|
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
|
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
|
rs1220302158
|
0.00001
|
|
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu)
|
rs2032247780
|
0.00001
|
|
NM_030667.3(PTPRO):c.2750C>T (p.Pro917Leu)
|
rs568440293
|
0.00001
|
|
NM_030912.3(TRIM8):c.823C>T (p.Arg275Cys)
|
rs200444633
|
0.00001
|
|
NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)
|
rs573511829
|
0.00001
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
0.00001
|
|
NM_030973.4(MED25):c.671G>A (p.Arg224Gln)
|
rs748835062
|
0.00001
|
|
NM_031157.4(HNRNPA1):c.1066G>A (p.Gly356Ser)
|
rs1276671277
|
0.00001
|
|
NM_031157.4(HNRNPA1):c.649G>A (p.Gly217Ser)
|
rs759577941
|
0.00001
|
|
NM_031157.4(HNRNPA1):c.914A>G (p.Asn305Ser)
|
rs1273572897
|
0.00001
|
|
NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)
|
rs773997389
|
0.00001
|
|
NM_031372.4(HNRNPDL):c.209C>T (p.Ala70Val)
|
rs1376844254
|
0.00001
|
|
NM_031372.4(HNRNPDL):c.397G>A (p.Ala133Thr)
|
rs1037537699
|
0.00001
|
|
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln)
|
rs782315292
|
0.00001
|
|
NM_031407.7(HUWE1):c.5885-1G>C
|
rs782770946
|
0.00001
|
|
NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg)
|
rs2523812994
|
0.00001
|
|
NM_031418.4(ANO3):c.1585C>A (p.Pro529Thr)
|
rs371081253
|
0.00001
|
|
NM_031475.3(ESPN):c.2530G>A (p.Val844Ile)
|
rs200429314
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=)
|
rs1680670991
|
0.00001
|
|
NM_031844.3(HNRNPU):c.991A>G (p.Lys331Glu)
|
rs375383329
|
0.00001
|
|
NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp)
|
rs747228782
|
0.00001
|
|
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His)
|
rs772929976
|
0.00001
|
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
0.00001
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
0.00001
|
|
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile)
|
rs375653808
|
0.00001
|
|
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
|
rs771525032
|
0.00001
|
|
NM_032217.5(ANKRD17):c.2915G>A (p.Gly972Glu)
|
rs1309655433
|
0.00001
|
|
NM_032237.5(POMK):c.236C>G (p.Thr79Arg)
|
rs773908820
|
0.00001
|
|
NM_032237.5(POMK):c.49G>T (p.Val17Leu)
|
rs1811486866
|
0.00001
|
|
NM_032237.5(POMK):c.521C>T (p.Thr174Met)
|
rs186128710
|
0.00001
|
|
NM_032237.5(POMK):c.620A>G (p.Asp207Gly)
|
rs770018377
|
0.00001
|
|
NM_032237.5(POMK):c.733G>A (p.Gly245Ser)
|
rs1421370755
|
0.00001
|
|
NM_032237.5(POMK):c.742G>C (p.Glu248Gln)
|
rs761639735
|
0.00001
|
|
NM_032271.3(TRAF7):c.1787C>T (p.Thr596Met)
|
rs1316961587
|
0.00001
|
|
NM_032357.4(VMA22):c.469C>T (p.Arg157Cys)
|
rs372325329
|
0.00001
|
|
NM_032380.5(GFM2):c.2164C>T (p.Gln722Ter)
|
rs200151202
|
0.00001
|
|
NM_032387.5(WNK4):c.3676C>T (p.Gln1226Ter)
|
rs747196064
|
0.00001
|
|
NM_032415.7(CARD11):c.1528G>A (p.Ala510Thr)
|
rs747077612
|
0.00001
|
|
NM_032436.4(CHAMP1):c.1295G>A (p.Ser432Asn)
|
rs1594130825
|
0.00001
|
|
NM_032436.4(CHAMP1):c.1429C>T (p.Pro477Ser)
|
rs2087231711
|
0.00001
|
|
NM_032436.4(CHAMP1):c.1767T>G (p.Asp589Glu)
|
rs372290741
|
0.00001
|
|
NM_032436.4(CHAMP1):c.712G>A (p.Gly238Arg)
|
rs2503198810
|
0.00001
|
|
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
|
rs2469944208
|
0.00001
|
|
NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu)
|
rs771450245
|
0.00001
|
|
NM_032578.4(MYPN):c.1052C>T (p.Ser351Leu)
|
rs747136869
|
0.00001
|
|
NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu)
|
rs1052323892
|
0.00001
|
|
NM_032578.4(MYPN):c.502C>T (p.His168Tyr)
|
rs1369595385
|
0.00001
|
|
NM_032578.4(MYPN):c.611A>G (p.Glu204Gly)
|
rs373095593
|
0.00001
|
|
NM_032578.4(MYPN):c.651G>A (p.Ala217=)
|
rs2042252455
|
0.00001
|
|
NM_032601.4(MCEE):c.275G>A (p.Gly92Glu)
|
rs779499957
|
0.00001
|
|
NM_032608.7(MYO18B):c.136G>A (p.Glu46Lys)
|
rs762675754
|
0.00001
|
|
NM_032608.7(MYO18B):c.2183C>T (p.Thr728Ile)
|
rs2087079037
|
0.00001
|
|
NM_032608.7(MYO18B):c.2488A>G (p.Ile830Val)
|
rs544705080
|
0.00001
|
|
NM_032608.7(MYO18B):c.3389T>C (p.Phe1130Ser)
|
rs1212794910
|
0.00001
|
|
NM_032608.7(MYO18B):c.7579C>T (p.Arg2527Ter)
|
rs764465123
|
0.00001
|
|
NM_032608.7(MYO18B):c.7601C>T (p.Ala2534Val)
|
rs532589500
|
0.00001
|
|
NM_032634.4(PIGO):c.1600G>A (p.Gly534Arg)
|
rs1020460988
|
0.00001
|
|
NM_032638.5(GATA2):c.311C>T (p.Ala104Val)
|
rs760660470
|
0.00001
|
|
NM_032776.3(JMJD1C):c.2071A>G (p.Thr691Ala)
|
rs1370622218
|
0.00001
|
|
NM_032776.3(JMJD1C):c.2119A>G (p.Lys707Glu)
|
rs1324107210
|
0.00001
|
|
NM_032776.3(JMJD1C):c.3716A>G (p.Asn1239Ser)
|
rs1051600051
|
0.00001
|
|
NM_032776.3(JMJD1C):c.5108G>A (p.Arg1703His)
|
rs1564593724
|
0.00001
|
|
NM_032776.3(JMJD1C):c.6631A>G (p.Ile2211Val)
|
rs748990512
|
0.00001
|
|
NM_032806.6(POMGNT2):c.539G>A (p.Arg180Gln)
|
rs763182041
|
0.00001
|
|
NM_032977.4(CASP10):c.1280A>G (p.Gln427Arg)
|
rs769367739
|
0.00001
|
|
NM_033022.4(RPS24):c.390+4T>C
|
rs764283144
|
0.00001
|
|
NM_033026.6(PCLO):c.12746T>C (p.Ile4249Thr)
|
rs1794417670
|
0.00001
|
|
NM_033026.6(PCLO):c.4849A>G (p.Thr1617Ala)
|
rs570437641
|
0.00001
|
|
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
|
rs1362233598
|
0.00001
|
|
NM_033109.5(PNPT1):c.232A>G (p.Thr78Ala)
|
rs768510266
|
0.00001
|
|
NM_033225.6(CSMD1):c.10429T>A (p.Ser3477Thr)
|
rs746303001
|
0.00001
|
|
NM_033225.6(CSMD1):c.1681G>C (p.Gly561Arg)
|
rs761595291
|
0.00001
|
|
NM_033225.6(CSMD1):c.6427G>A (p.Asp2143Asn)
|
rs766996528
|
0.00001
|
|
NM_033225.6(CSMD1):c.9134A>G (p.Asn3045Ser)
|
rs777307901
|
0.00001
|
|
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
|
rs1476197903
|
0.00001
|
|
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
|
rs746048000
|
0.00001
|
|
NM_033337.3(CAV3):c.169G>A (p.Val57Met)
|
rs116840795
|
0.00001
|
|
NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)
|
rs1060502315
|
0.00001
|
|
NM_033337.3(CAV3):c.377G>A (p.Arg126His)
|
rs116840777
|
0.00001
|
|
NM_033337.3(CAV3):c.431A>G (p.Lys144Arg)
|
rs1060502316
|
0.00001
|
|
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg)
|
rs753431407
|
0.00001
|
|
NM_033343.4(LHX4):c.740A>T (p.Glu247Val)
|
rs766381404
|
0.00001
|
|
NM_033453.4(ITPA):c.262A>C (p.Ile88Leu)
|
rs2067234818
|
0.00001
|
|
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)
|
rs867148059
|
0.00001
|
|
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)
|
rs755185014
|
0.00001
|
|
NM_033656.4(BRWD1):c.2918A>G (p.Glu973Gly)
|
rs200572296
|
0.00001
|
|
NM_052859.4(RFT1):c.1459-2A>G
|
rs1303215098
|
0.00001
|
|
NM_052859.4(RFT1):c.698C>T (p.Ala233Val)
|
rs751030368
|
0.00001
|
|
NM_052867.4(NALCN):c.2123G>A (p.Arg708His)
|
rs756720709
|
0.00001
|
|
NM_052867.4(NALCN):c.3853G>A (p.Val1285Ile)
|
rs771743242
|
0.00001
|
|
NM_052876.4(NACC1):c.1003C>T (p.Arg335Trp)
|
rs1409088491
|
0.00001
|
|
NM_052876.4(NACC1):c.947C>T (p.Ala316Val)
|
rs771547152
|
0.00001
|
|
NM_052988.5(CDK10):c.886G>A (p.Gly296Arg)
|
rs907552522
|
0.00001
|
|
NM_053025.4(MYLK):c.4289-3C>A
|
rs775802631
|
0.00001
|
|
NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)
|
rs1331462223
|
0.00001
|
|
NM_058004.4(PI4KA):c.4711G>A (p.Glu1571Lys)
|
rs1250527166
|
0.00001
|
|
NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu)
|
rs749917279
|
0.00001
|
|
NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter)
|
rs1584924401
|
0.00001
|
|
NM_058246.4(DNAJB6):c.499C>G (p.Leu167Val)
|
rs1241662438
|
0.00001
|
|
NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr)
|
rs781071853
|
0.00001
|
|
NM_058246.4(DNAJB6):c.676T>G (p.Ser226Ala)
|
rs1801013122
|
0.00001
|
|
NM_058246.4(DNAJB6):c.709G>C (p.Ala237Pro)
|
rs753856844
|
0.00001
|
|
NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu)
|
rs539562536
|
0.00001
|
|
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
|
rs751819645
|
0.00001
|
|
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)
|
rs1309059867
|
0.00001
|
|
NM_080424.4(SP110):c.1129+4A>G
|
rs764054594
|
0.00001
|
|
NM_080473.5(GATA5):c.714C>T (p.Arg238=)
|
rs1452062094
|
0.00001
|
|
NM_080476.5(PIGU):c.780T>G (p.Phe260Leu)
|
rs757225351
|
0.00001
|
|
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)
|
rs374677519
|
0.00001
|
|
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)
|
rs749620886
|
0.00001
|
|
NM_080680.3(COL11A2):c.2099G>C (p.Gly700Ala)
|
rs558103710
|
0.00001
|
|
NM_080680.3(COL11A2):c.606+3A>G
|
rs775089162
|
0.00001
|
|
NM_130466.4(UBE3B):c.1811G>A (p.Arg604Gln)
|
rs369410122
|
0.00001
|
|
NM_130797.4(DPP6):c.457+3G>A
|
rs1174429072
|
0.00001
|
|
NM_130837.3(OPA1):c.2816A>G (p.Gln939Arg)
|
rs1716531934
|
0.00001
|
|
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser)
|
rs1383474985
|
0.00001
|
|
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)
|
rs762273098
|
0.00001
|
|
NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)
|
rs564191181
|
0.00001
|
|
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)
|
rs750562280
|
0.00001
|
|
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
|
rs751966925
|
0.00001
|
|
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
|
rs763785383
|
0.00001
|
|
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)
|
rs778661285
|
0.00001
|
|
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)
|
rs368022392
|
0.00001
|
|
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)
|
rs772765625
|
0.00001
|
|
NM_133642.5(LARGE1):c.1060T>G (p.Cys354Gly)
|
rs1377377295
|
0.00001
|
|
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp)
|
rs767127452
|
0.00001
|
|
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser)
|
rs199912424
|
0.00001
|
|
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr)
|
rs778360056
|
0.00001
|
|
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly)
|
rs760507626
|
0.00001
|
|
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His)
|
rs771376144
|
0.00001
|
|
NM_133642.5(LARGE1):c.272C>A (p.Pro91Gln)
|
rs1346230393
|
0.00001
|
|
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln)
|
rs773482355
|
0.00001
|
|
NM_133642.5(LARGE1):c.550A>G (p.Thr184Ala)
|
rs960997554
|
0.00001
|
|
NM_133642.5(LARGE1):c.754G>A (p.Ala252Thr)
|
rs751608219
|
0.00001
|
|
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val)
|
rs764632554
|
0.00001
|
|
NM_134261.3(RORA):c.509G>A (p.Arg170His)
|
rs758295613
|
0.00001
|
|
NM_134261.3(RORA):c.592G>A (p.Asp198Asn)
|
rs1044633589
|
0.00001
|
|
NM_138295.5(PKD1L1):c.1606C>T (p.Leu536=)
|
rs765195623
|
0.00001
|
|
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys)
|
rs750695182
|
0.00001
|
|
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro)
|
rs1221444661
|
0.00001
|
|
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
|
rs898267866
|
0.00001
|
|
NM_138459.5(NUS1):c.23T>C (p.Val8Ala)
|
rs2481982275
|
0.00001
|
|
NM_138459.5(NUS1):c.338G>A (p.Ser113Asn)
|
rs1772973502
|
0.00001
|
|
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala)
|
rs191247450
|
0.00001
|
|
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
|
rs370515022
|
0.00001
|
|
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys)
|
rs775619948
|
0.00001
|
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
rs772828912
|
0.00001
|
|
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
|
rs747805819
|
0.00001
|
|
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
|
rs1476353311
|
0.00001
|
|
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
|
rs1566982883
|
0.00001
|
|
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
|
rs747975571
|
0.00001
|
|
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu)
|
rs370476233
|
0.00001
|
|
NM_138477.4(CDAN1):c.2645+2dup
|
rs765730115
|
0.00001
|
|
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
|
rs199779909
|
0.00001
|
|
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
|
rs1412116591
|
0.00001
|
|
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
|
rs754299138
|
0.00001
|
|
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
|
rs368759902
|
0.00001
|
|
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
|
rs1355807441
|
0.00001
|
|
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
|
rs747138145
|
0.00001
|
|
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
|
rs371090455
|
0.00001
|
|
NM_138576.4(BCL11B):c.1482C>T (p.Ala494=)
|
rs765782024
|
0.00001
|
|
NM_138615.3(DHX30):c.1109C>T (p.Ser370Leu)
|
rs1485143333
|
0.00001
|
|
NM_138615.3(DHX30):c.3287C>T (p.Pro1096Leu)
|
rs2107178598
|
0.00001
|
|
NM_138615.3(DHX30):c.577G>A (p.Glu193Lys)
|
rs1001238876
|
0.00001
|
|
NM_138615.3(DHX30):c.73C>T (p.Arg25Cys)
|
rs370921443
|
0.00001
|
|
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala)
|
rs1004680147
|
0.00001
|
|
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
|
rs772116097
|
0.00001
|
|
NM_138694.4(PKHD1):c.11786-3C>A
|
rs746467881
|
0.00001
|
|
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
|
rs766829339
|
0.00001
|
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
|
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
|
rs573985690
|
0.00001
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
0.00001
|
|
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
|
rs552199185
|
0.00001
|
|
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
|
rs560461855
|
0.00001
|
|
NM_138792.4(LEO1):c.1929A>T (p.Glu643Asp)
|
rs898196359
|
0.00001
|
|
NM_138927.4(SON):c.1043C>T (p.Ser348Leu)
|
rs1312158543
|
0.00001
|
|
NM_138927.4(SON):c.2966G>A (p.Arg989Lys)
|
rs768228616
|
0.00001
|
|
NM_138927.4(SON):c.3541G>A (p.Ala1181Thr)
|
rs1210956110
|
0.00001
|
|
NM_138927.4(SON):c.3638C>T (p.Pro1213Leu)
|
rs372461298
|
0.00001
|
|
NM_138927.4(SON):c.3952T>C (p.Ser1318Pro)
|
rs746631074
|
0.00001
|
|
NM_138927.4(SON):c.5719A>C (p.Lys1907Gln)
|
rs2085927666
|
0.00001
|
|
NM_138927.4(SON):c.5873G>A (p.Arg1958His)
|
rs2085933568
|
0.00001
|
|
NM_138927.4(SON):c.5894G>A (p.Arg1965His)
|
rs1038271217
|
0.00001
|
|
NM_138927.4(SON):c.5950C>T (p.Arg1984Trp)
|
rs1312220322
|
0.00001
|
|
NM_138927.4(SON):c.6104G>A (p.Arg2035His)
|
rs752342398
|
0.00001
|
|
NM_138927.4(SON):c.937C>T (p.Pro313Ser)
|
rs893149017
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.3400+136T>A
|
rs782166349
|
0.00001
|
|
NM_139058.3(ARX):c.446C>T (p.Ala149Val)
|
rs2048712403
|
0.00001
|
|
NM_139125.4(MASP1):c.773C>T (p.Pro258Leu)
|
rs771300183
|
0.00001
|
|
NM_139242.4(MTFMT):c.9G>A (p.Val3=)
|
rs994088488
|
0.00001
|
|
NM_139276.3(STAT3):c.1204G>A (p.Gly402Ser)
|
rs763754846
|
0.00001
|
|
NM_139278.4(LGI3):c.1322G>A (p.Arg441His)
|
rs753254841
|
0.00001
|
|
NM_139284.3(LGI4):c.242T>A (p.Leu81His)
|
rs2065192801
|
0.00001
|
|
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val)
|
rs1168855290
|
0.00001
|
|
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
|
rs750715069
|
0.00001
|
|
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
|
rs772939462
|
0.00001
|
|
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val)
|
rs774321875
|
0.00001
|
|
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
|
rs375004668
|
0.00001
|
|
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
|
rs1258696983
|
0.00001
|
|
NM_139343.3(BIN1):c.784A>C (p.Asn262His)
|
rs1331854784
|
0.00001
|
|
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
|
rs1416231983
|
0.00001
|
|
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu)
|
rs754707833
|
0.00001
|
|
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
|
rs764752262
|
0.00001
|
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
|
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)
|
rs765051104
|
0.00001
|
|
NM_144596.4(TTC8):c.1400C>T (p.Pro467Leu)
|
rs202031505
|
0.00001
|
|
NM_144599.5(NIPA1):c.856G>A (p.Val286Met)
|
rs531256830
|
0.00001
|
|
NM_144666.3(DNHD1):c.5662C>T (p.Leu1888=)
|
rs1453471471
|
0.00001
|
|
NM_144666.3(DNHD1):c.8246T>C (p.Leu2749Pro)
|
rs2494055196
|
0.00001
|
|
NM_144670.6(A2ML1):c.1309A>G (p.Asn437Asp)
|
rs1476856178
|
0.00001
|
|
NM_144670.6(A2ML1):c.1476+1G>T
|
rs758062102
|
0.00001
|
|
NM_144670.6(A2ML1):c.3710C>T (p.Ser1237Phe)
|
rs1181948169
|
0.00001
|
|
NM_144687.4(NLRP12):c.1568C>G (p.Ala523Gly)
|
rs1036210460
|
0.00001
|
|
NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr)
|
rs767402341
|
0.00001
|
|
NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)
|
rs778587763
|
0.00001
|
|
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)
|
rs1555610947
|
0.00001
|
|
NM_145064.3(STAC3):c.517C>T (p.Arg173Cys)
|
rs1404488985
|
0.00001
|
|
NM_145064.3(STAC3):c.521A>G (p.Asn174Ser)
|
rs1038718298
|
0.00001
|
|
NM_145117.5(NAV2):c.2713G>A (p.Val905Met)
|
rs763349829
|
0.00001
|
|
NM_145117.5(NAV2):c.2821C>T (p.Leu941Phe)
|
rs1317009919
|
0.00001
|
|
NM_145117.5(NAV2):c.4714G>T (p.Ala1572Ser)
|
rs201278935
|
0.00001
|
|
NM_145117.5(NAV2):c.5377G>A (p.Ala1793Thr)
|
rs531847114
|
0.00001
|
|
NM_145207.3(AFG2A):c.1910T>A (p.Leu637Gln)
|
rs1476739837
|
0.00001
|
|
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)
|
rs754317673
|
0.00001
|
|
NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser)
|
rs1325337150
|
0.00001
|
|
NM_147127.5(EVC2):c.1284G>A (p.Met428Ile)
|
rs760369547
|
0.00001
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
rs368851256
|
0.00001
|
|
NM_152263.4(TPM3):c.18G>T (p.Lys6Asn)
|
rs754704140
|
0.00001
|
|
NM_152263.4(TPM3):c.236C>T (p.Ala79Val)
|
rs1558068421
|
0.00001
|
|
NM_152263.4(TPM3):c.642+2T>C
|
rs750152844
|
0.00001
|
|
NM_152263.4(TPM3):c.643-3C>T
|
rs529845435
|
0.00001
|
|
NM_152263.4(TPM3):c.64C>T (p.Arg22Trp)
|
rs1414707302
|
0.00001
|
|
NM_152263.4(TPM3):c.815G>A (p.Ser272Asn)
|
rs772869657
|
0.00001
|
|
NM_152263.4(TPM3):c.829C>A (p.His277Asn)
|
rs747794605
|
0.00001
|
|
NM_152263.4(TPM3):c.853A>G (p.Ile285Val)
|
rs758557977
|
0.00001
|
|
NM_152263.4(TPM3):c.855-1G>A
|
rs113605263
|
0.00001
|
|
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn)
|
rs1396898460
|
0.00001
|
|
NM_152305.3(POGLUT1):c.1043A>G (p.Asn348Ser)
|
rs764806253
|
0.00001
|
|
NM_152305.3(POGLUT1):c.1177T>C (p.Ter393Gln)
|
rs775293342
|
0.00001
|
|
NM_152305.3(POGLUT1):c.17G>C (p.Ser6Thr)
|
rs749876526
|
0.00001
|
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
|
NM_152305.3(POGLUT1):c.983T>G (p.Val328Gly)
|
rs369732121
|
0.00001
|
|
NM_152328.5(ADSS1):c.1265T>A (p.Leu422Gln)
|
rs1422523014
|
0.00001
|
|
NM_152328.5(ADSS1):c.193-4988T>A
|
rs769086716
|
0.00001
|
|
NM_152328.5(ADSS1):c.193-5037G>T
|
rs146609245
|
0.00001
|
|
NM_152328.5(ADSS1):c.548G>T (p.Cys183Phe)
|
rs748520253
|
0.00001
|
|
NM_152328.5(ADSS1):c.794-2A>G
|
rs111588752
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1285G>A (p.Glu429Lys)
|
rs750852437
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1642G>A (p.Ala548Thr)
|
rs1017419118
|
0.00001
|
|
NM_152384.3(BBS5):c.387-3T>C
|
rs866297056
|
0.00001
|
|
NM_152393.4(KLHL40):c.1327G>A (p.Gly443Ser)
|
rs1395914316
|
0.00001
|
|
NM_152393.4(KLHL40):c.557T>A (p.Leu186His)
|
rs777496833
|
0.00001
|
|
NM_152393.4(KLHL40):c.632C>T (p.Ala211Val)
|
rs939996203
|
0.00001
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
0.00001
|
|
NM_152424.4(AMER1):c.1073G>A (p.Arg358Gln)
|
rs374751715
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
|
rs752094844
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu)
|
rs369378819
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys)
|
rs1041647688
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.1368+1G>A
|
rs1479230229
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met)
|
rs534508633
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala)
|
rs1684704696
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr)
|
rs997345764
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val)
|
rs753582080
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)
|
rs377646173
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser)
|
rs775573521
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
|
rs755184356
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His)
|
rs771483345
|
0.00001
|
|
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val)
|
rs930006569
|
0.00001
|
|
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
|
rs147924250
|
0.00001
|
|
NM_152564.5(VPS13B):c.2516-3T>A
|
rs377723973
|
0.00001
|
|
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg)
|
rs1053258649
|
0.00001
|
|
NM_152641.4(ARID2):c.1447C>T (p.Pro483Ser)
|
rs374540100
|
0.00001
|
|
NM_152641.4(ARID2):c.1588G>A (p.Ala530Thr)
|
rs1485251463
|
0.00001
|
|
NM_152641.4(ARID2):c.2473T>C (p.Ser825Pro)
|
rs765801823
|
0.00001
|
|
NM_152641.4(ARID2):c.3608T>C (p.Met1203Thr)
|
rs780546787
|
0.00001
|
|
NM_152641.4(ARID2):c.485T>A (p.Val162Glu)
|
rs749833945
|
0.00001
|
|
NM_152701.5(ABCA13):c.12718G>A (p.Ala4240Thr)
|
rs375217620
|
0.00001
|
|
NM_152701.5(ABCA13):c.557C>T (p.Pro186Leu)
|
rs757024901
|
0.00001
|
|
NM_152703.5(SAMD9L):c.1705C>T (p.Gln569Ter)
|
rs756471617
|
0.00001
|
|
NM_152703.5(SAMD9L):c.2690A>T (p.Asp897Val)
|
rs145961655
|
0.00001
|
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
|
NM_152743.4(BRAT1):c.1288C>T (p.Leu430Phe)
|
rs1779141621
|
0.00001
|
|
NM_152743.4(BRAT1):c.2311G>T (p.Ala771Ser)
|
rs765459628
|
0.00001
|
|
NM_152743.4(BRAT1):c.844A>T (p.Thr282Ser)
|
rs575570226
|
0.00001
|
|
NM_152743.4(BRAT1):c.853C>T (p.Arg285Trp)
|
rs1301692811
|
0.00001
|
|
NM_152866.3(MS4A1):c.718A>G (p.Ile240Val)
|
rs201410977
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)
|
rs780931107
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp)
|
rs1374079074
|
0.00001
|
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
|
NM_153240.5(NPHP3):c.1085T>C (p.Leu362Ser)
|
rs1939959592
|
0.00001
|
|
NM_153252.5(BRWD3):c.3119A>G (p.Tyr1040Cys)
|
rs781258661
|
0.00001
|
|
NM_153704.6(TMEM67):c.64G>A (p.Val22Met)
|
rs770779757
|
0.00001
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
rs567701930
|
0.00001
|
|
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys)
|
rs766751249
|
0.00001
|
|
NM_153741.2(DPM3):c.18G>C (p.Gln6His)
|
rs371451995
|
0.00001
|
|
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)
|
rs752119871
|
0.00001
|
|
NM_153747.2(PIGC):c.574C>T (p.Arg192Cys)
|
rs768479943
|
0.00001
|
|
NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)
|
rs976545155
|
0.00001
|
|
NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)
|
rs751826212
|
0.00001
|
|
NM_170606.3(KMT2C):c.11260T>C (p.Ser3754Pro)
|
rs745527298
|
0.00001
|
|
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)
|
rs762380795
|
0.00001
|
|
NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr)
|
rs762516062
|
0.00001
|
|
NM_170606.3(KMT2C):c.53C>T (p.Pro18Leu)
|
rs758889240
|
0.00001
|
|
NM_170606.3(KMT2C):c.6511G>A (p.Val2171Ile)
|
rs570008157
|
0.00001
|
|
NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val)
|
rs755908212
|
0.00001
|
|
NM_170606.3(KMT2C):c.7631A>G (p.Gln2544Arg)
|
rs752687658
|
0.00001
|
|
NM_170606.3(KMT2C):c.8029A>G (p.Ile2677Val)
|
rs1205543353
|
0.00001
|
|
NM_170606.3(KMT2C):c.8218A>G (p.Thr2740Ala)
|
rs1469670732
|
0.00001
|
|
NM_170606.3(KMT2C):c.8298G>A (p.Met2766Ile)
|
rs1029049751
|
0.00001
|
|
NM_170606.3(KMT2C):c.8436A>G (p.Pro2812=)
|
rs1243399664
|
0.00001
|
|
NM_170606.3(KMT2C):c.8792A>T (p.Asp2931Val)
|
rs2093225264
|
0.00001
|
|
NM_170606.3(KMT2C):c.8819C>T (p.Pro2940Leu)
|
rs1011541977
|
0.00001
|
|
NM_170675.5(MEIS2):c.582C>A (p.Gly194=)
|
rs772631421
|
0.00001
|
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00001
|
|
NM_170707.4(LMNA):c.1157+3G>A
|
rs759657247
|
0.00001
|
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
0.00001
|
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
|
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)
|
rs1263919141
|
0.00001
|
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
|
NM_170707.4(LMNA):c.1480G>T (p.Val494Leu)
|
rs760277884
|
0.00001
|
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
|
NM_170707.4(LMNA):c.1729G>A (p.Ala577Thr)
|
rs1439261714
|
0.00001
|
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
|
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
|
rs768986279
|
0.00001
|
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
|
NM_170707.4(LMNA):c.662G>A (p.Arg221His)
|
rs372567202
|
0.00001
|
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
|
NM_172070.4(UBR3):c.1276A>G (p.Ile426Val)
|
rs2084602205
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1218-18T>G
|
rs908502131
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1489C>T (p.Arg497Cys)
|
rs540461827
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1511G>A (p.Arg504Gln)
|
rs758575791
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
|
rs748298686
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His)
|
rs758530960
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly)
|
rs1006613253
|
0.00001
|
|
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
|
rs2546335284
|
0.00001
|
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
|
NM_172362.3(KCNH1):c.2957T>C (p.Phe986Ser)
|
rs770510070
|
0.00001
|
|
NM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs)
|
rs1245678935
|
0.00001
|
|
NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr)
|
rs1225191975
|
0.00001
|
|
NM_173494.2(DNAAF6):c.125A>G (p.Glu42Gly)
|
rs1243381694
|
0.00001
|
|
NM_173495.3(PTCHD1):c.105C>G (p.Ile35Met)
|
rs374630147
|
0.00001
|
|
NM_173495.3(PTCHD1):c.2462G>A (p.Cys821Tyr)
|
rs1452597411
|
0.00001
|
|
NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)
|
rs1255740662
|
0.00001
|
|
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)
|
rs764745147
|
0.00001
|
|
NM_173602.3(DIP2B):c.1672G>A (p.Val558Ile)
|
rs1361871607
|
0.00001
|
|
NM_173602.3(DIP2B):c.26C>T (p.Ser9Leu)
|
rs1466454746
|
0.00001
|
|
NM_173602.3(DIP2B):c.712G>A (p.Ala238Thr)
|
rs756850362
|
0.00001
|
|
NM_173630.4(RTTN):c.799C>G (p.Leu267Val)
|
rs529266509
|
0.00001
|
|
NM_173653.4(SLC9A9):c.554T>G (p.Val185Gly)
|
rs199812035
|
0.00001
|
|
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu)
|
rs757019137
|
0.00001
|
|
NM_173660.5(DOK7):c.1223C>G (p.Pro408Arg)
|
rs1395427004
|
0.00001
|
|
NM_173660.5(DOK7):c.1464C>G (p.Phe488Leu)
|
rs750304232
|
0.00001
|
|
NM_173660.5(DOK7):c.190G>A (p.Gly64Arg)
|
rs1246160310
|
0.00001
|
|
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)
|
rs753436594
|
0.00001
|
|
NM_173660.5(DOK7):c.475C>T (p.Arg159Cys)
|
rs368891521
|
0.00001
|
|
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys)
|
rs1388813398
|
0.00001
|
|
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser)
|
rs1301546614
|
0.00001
|
|
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala)
|
rs956613882
|
0.00001
|
|
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly)
|
rs750004938
|
0.00001
|
|
NM_173660.5(DOK7):c.899G>C (p.Arg300Thr)
|
rs758803062
|
0.00001
|
|
NM_173689.7(CRB2):c.419G>A (p.Gly140Asp)
|
rs545989298
|
0.00001
|
|
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys)
|
rs761767572
|
0.00001
|
|
NM_175607.3(CNTN4):c.2698+1G>A
|
rs1181797277
|
0.00001
|
|
NM_175875.5(SIX5):c.931C>T (p.Pro311Ser)
|
rs750946089
|
0.00001
|
|
NM_175876.5(EXOC8):c.1822G>A (p.Asp608Asn)
|
rs1392999402
|
0.00001
|
|
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)
|
rs376906221
|
0.00001
|
|
NM_175914.5(HNF4A):c.196G>A (p.Val66Met)
|
rs369182343
|
0.00001
|
|
NM_176787.5(PIGN):c.2089G>T (p.Val697Phe)
|
rs763127430
|
0.00001
|
|
NM_176818.3(GATC):c.128T>C (p.Leu43Pro)
|
rs971320743
|
0.00001
|
|
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)
|
rs534408910
|
0.00001
|
|
NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)
|
rs566442201
|
0.00001
|
|
NM_177402.5(SYT2):c.46G>T (p.Ala16Ser)
|
rs1209035387
|
0.00001
|
|
NM_177438.3(DICER1):c.2201C>G (p.Thr734Ser)
|
rs781312991
|
0.00001
|
|
NM_177438.3(DICER1):c.2246A>T (p.Tyr749Phe)
|
rs1309961626
|
0.00001
|
|
NM_177438.3(DICER1):c.2637A>G (p.Leu879=)
|
rs1347754955
|
0.00001
|
|
NM_177438.3(DICER1):c.776C>T (p.Pro259Leu)
|
rs566464225
|
0.00001
|
|
NM_177559.3(CSNK2A1):c.955A>G (p.Met319Val)
|
rs1056954
|
0.00001
|
|
NM_177924.5(ASAH1):c.1079C>T (p.Thr360Ile)
|
rs371520705
|
0.00001
|
|
NM_177924.5(ASAH1):c.383-39del
|
rs1369427174
|
0.00001
|
|
NM_177924.5(ASAH1):c.388A>T (p.Ile130Phe)
|
rs1361939719
|
0.00001
|
|
NM_177939.3(P4HTM):c.509G>A (p.Arg170His)
|
rs774099043
|
0.00001
|
|
NM_178537.5(B4GALNT4):c.1039G>A (p.Ala347Thr)
|
rs751107435
|
0.00001
|
|
NM_178554.6(KY):c.21C>G (p.Ile7Met)
|
rs1379769567
|
0.00001
|
|
NM_178857.6(RP1L1):c.1204G>A (p.Gly402Arg)
|
rs576040470
|
0.00001
|
|
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
|
rs770685602
|
0.00001
|
|
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)
|
rs973621936
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1077T>C (p.Asp359=)
|
rs567676424
|
0.00001
|
|
NM_181523.3(PIK3R1):c.397A>G (p.Ile133Val)
|
rs765134697
|
0.00001
|
|
NM_181552.4(CUX1):c.3371C>T (p.Pro1124Leu)
|
rs782182646
|
0.00001
|
|
NM_181552.4(CUX1):c.3989C>T (p.Ala1330Val)
|
rs1554537821
|
0.00001
|
|
NM_181552.4(CUX1):c.4127C>T (p.Pro1376Leu)
|
rs782490639
|
0.00001
|
|
NM_181552.4(CUX1):c.4336A>G (p.Ser1446Gly)
|
rs1297569360
|
0.00001
|
|
NM_181882.3(PRX):c.4243G>A (p.Val1415Met)
|
rs201222650
|
0.00001
|
|
NM_182641.4(BPTF):c.2047G>C (p.Gly683Arg)
|
rs893784943
|
0.00001
|
|
NM_182641.4(BPTF):c.2768T>G (p.Leu923Trp)
|
rs1321949301
|
0.00001
|
|
NM_182641.4(BPTF):c.4592T>A (p.Val1531Glu)
|
rs753204042
|
0.00001
|
|
NM_182706.5(SCRIB):c.504-3C>T
|
rs1476490067
|
0.00001
|
|
NM_182706.5(SCRIB):c.829C>T (p.Arg277Trp)
|
rs904543301
|
0.00001
|
|
NM_182914.3(SYNE2):c.10090T>G (p.Tyr3364Asp)
|
rs753595531
|
0.00001
|
|
NM_182914.3(SYNE2):c.10139C>T (p.Thr3380Ile)
|
rs371329230
|
0.00001
|
|
NM_182914.3(SYNE2):c.10442A>G (p.Glu3481Gly)
|
rs1162485248
|
0.00001
|
|
NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr)
|
rs765413747
|
0.00001
|
|
NM_182914.3(SYNE2):c.10724A>C (p.Lys3575Thr)
|
rs777273052
|
0.00001
|
|
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn)
|
rs376684112
|
0.00001
|
|
NM_182914.3(SYNE2):c.11702C>T (p.Ser3901Leu)
|
rs1311942649
|
0.00001
|
|
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys)
|
rs779441612
|
0.00001
|
|
NM_182914.3(SYNE2):c.12061C>T (p.Leu4021Phe)
|
rs767184847
|
0.00001
|
|
NM_182914.3(SYNE2):c.12413A>T (p.Gln4138Leu)
|
rs2097733725
|
0.00001
|
|
NM_182914.3(SYNE2):c.12485T>C (p.Ile4162Thr)
|
rs146695327
|
0.00001
|
|
NM_182914.3(SYNE2):c.1248C>G (p.His416Gln)
|
rs372320901
|
0.00001
|
|
NM_182914.3(SYNE2):c.12769G>A (p.Val4257Met)
|
rs765323829
|
0.00001
|
|
NM_182914.3(SYNE2):c.13030A>G (p.Thr4344Ala)
|
rs776545846
|
0.00001
|
|
NM_182914.3(SYNE2):c.1338C>T (p.Thr446=)
|
rs1428710358
|
0.00001
|
|
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr)
|
rs758884582
|
0.00001
|
|
NM_182914.3(SYNE2):c.13562T>C (p.Met4521Thr)
|
rs756784418
|
0.00001
|
|
NM_182914.3(SYNE2):c.13695_13707+2dup
|
rs758985012
|
0.00001
|
|
NM_182914.3(SYNE2):c.13945C>T (p.Leu4649Phe)
|
rs1236612447
|
0.00001
|
|
NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln)
|
rs188252400
|
0.00001
|
|
NM_182914.3(SYNE2):c.14393C>T (p.Ala4798Val)
|
rs770006520
|
0.00001
|
|
NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)
|
rs1263971922
|
0.00001
|
|
NM_182914.3(SYNE2):c.14797G>C (p.Asp4933His)
|
rs765644476
|
0.00001
|
|
NM_182914.3(SYNE2):c.15187A>C (p.Lys5063Gln)
|
rs746864967
|
0.00001
|
|
NM_182914.3(SYNE2):c.15274T>C (p.Ser5092Pro)
|
rs1430310299
|
0.00001
|
|
NM_182914.3(SYNE2):c.15316A>G (p.Met5106Val)
|
rs376851893
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-3T>C
|
rs370197641
|
0.00001
|
|
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn)
|
rs188953744
|
0.00001
|
|
NM_182914.3(SYNE2):c.16094+1G>A
|
rs1296966896
|
0.00001
|
|
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln)
|
rs143231145
|
0.00001
|
|
NM_182914.3(SYNE2):c.16922T>C (p.Val5641Ala)
|
rs954372224
|
0.00001
|
|
NM_182914.3(SYNE2):c.17026A>G (p.Lys5676Glu)
|
rs756560078
|
0.00001
|
|
NM_182914.3(SYNE2):c.17150C>G (p.Thr5717Ser)
|
rs780666104
|
0.00001
|
|
NM_182914.3(SYNE2):c.17768A>G (p.Asn5923Ser)
|
rs752563309
|
0.00001
|
|
NM_182914.3(SYNE2):c.18013C>A (p.His6005Asn)
|
rs780648179
|
0.00001
|
|
NM_182914.3(SYNE2):c.18031G>A (p.Gly6011Arg)
|
rs145257568
|
0.00001
|
|
NM_182914.3(SYNE2):c.18039-3T>C
|
rs532269465
|
0.00001
|
|
NM_182914.3(SYNE2):c.1816A>C (p.Lys606Gln)
|
rs753994064
|
0.00001
|
|
NM_182914.3(SYNE2):c.18326C>T (p.Thr6109Ile)
|
rs1248550076
|
0.00001
|
|
NM_182914.3(SYNE2):c.18497A>T (p.Glu6166Val)
|
rs2550091636
|
0.00001
|
|
NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)
|
rs781623552
|
0.00001
|
|
NM_182914.3(SYNE2):c.18694C>T (p.Arg6232Trp)
|
rs772056587
|
0.00001
|
|
NM_182914.3(SYNE2):c.18695G>A (p.Arg6232Gln)
|
rs549549436
|
0.00001
|
|
NM_182914.3(SYNE2):c.18826G>A (p.Glu6276Lys)
|
rs1162009940
|
0.00001
|
|
NM_182914.3(SYNE2):c.18877A>G (p.Ile6293Val)
|
rs545691287
|
0.00001
|
|
NM_182914.3(SYNE2):c.18941G>T (p.Ser6314Ile)
|
rs548600640
|
0.00001
|
|
NM_182914.3(SYNE2):c.19234G>A (p.Val6412Met)
|
rs755527635
|
0.00001
|
|
NM_182914.3(SYNE2):c.19336G>A (p.Val6446Ile)
|
rs780320173
|
0.00001
|
|
NM_182914.3(SYNE2):c.20073G>C (p.Gln6691His)
|
rs1555559928
|
0.00001
|
|
NM_182914.3(SYNE2):c.20675G>A (p.Arg6892Gln)
|
rs774785412
|
0.00001
|
|
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)
|
rs138419017
|
0.00001
|
|
NM_182914.3(SYNE2):c.2386C>G (p.Gln796Glu)
|
rs749179202
|
0.00001
|
|
NM_182914.3(SYNE2):c.2431G>A (p.Gly811Arg)
|
rs2096658803
|
0.00001
|
|
NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)
|
rs377520784
|
0.00001
|
|
NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)
|
rs2550923589
|
0.00001
|
|
NM_182914.3(SYNE2):c.3334A>G (p.Ile1112Val)
|
rs768865169
|
0.00001
|
|
NM_182914.3(SYNE2):c.3361A>G (p.Thr1121Ala)
|
rs1231489198
|
0.00001
|
|
NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)
|
rs759339742
|
0.00001
|
|
NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val)
|
rs757090585
|
0.00001
|
|
NM_182914.3(SYNE2):c.419T>G (p.Leu140Arg)
|
rs1455082073
|
0.00001
|
|
NM_182914.3(SYNE2):c.4278C>G (p.Asn1426Lys)
|
rs768333248
|
0.00001
|
|
NM_182914.3(SYNE2):c.4396C>T (p.Arg1466Trp)
|
rs768111227
|
0.00001
|
|
NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)
|
rs2096903658
|
0.00001
|
|
NM_182914.3(SYNE2):c.5240C>T (p.Thr1747Ile)
|
rs1426636384
|
0.00001
|
|
NM_182914.3(SYNE2):c.6830A>T (p.Asp2277Val)
|
rs778455908
|
0.00001
|
|
NM_182914.3(SYNE2):c.7112G>T (p.Gly2371Val)
|
rs1434568897
|
0.00001
|
|
NM_182914.3(SYNE2):c.7569A>T (p.Arg2523Ser)
|
rs763858839
|
0.00001
|
|
NM_182914.3(SYNE2):c.7880A>G (p.Glu2627Gly)
|
rs1440652896
|
0.00001
|
|
NM_182914.3(SYNE2):c.7943A>G (p.His2648Arg)
|
rs1244511134
|
0.00001
|
|
NM_182914.3(SYNE2):c.8067G>C (p.Gln2689His)
|
rs745668773
|
0.00001
|
|
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)
|
rs759977701
|
0.00001
|
|
NM_182914.3(SYNE2):c.8260A>G (p.Ile2754Val)
|
rs746673639
|
0.00001
|
|
NM_182914.3(SYNE2):c.8308G>A (p.Val2770Met)
|
rs375362522
|
0.00001
|
|
NM_182914.3(SYNE2):c.8348A>T (p.Glu2783Val)
|
rs773304417
|
0.00001
|
|
NM_182914.3(SYNE2):c.8372A>G (p.Asp2791Gly)
|
rs1375213180
|
0.00001
|
|
NM_182914.3(SYNE2):c.8405G>A (p.Ser2802Asn)
|
rs748718664
|
0.00001
|
|
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser)
|
rs765407182
|
0.00001
|
|
NM_182914.3(SYNE2):c.8513A>G (p.Asn2838Ser)
|
rs777205885
|
0.00001
|
|
NM_182914.3(SYNE2):c.9717G>T (p.Gln3239His)
|
rs1428818552
|
0.00001
|
|
NM_182914.3(SYNE2):c.9925C>T (p.His3309Tyr)
|
rs764372124
|
0.00001
|
|
NM_182914.3(SYNE2):c.9962C>G (p.Ser3321Cys)
|
rs751449516
|
0.00001
|
|
NM_182925.5(FLT4):c.1481C>T (p.Thr494Met)
|
rs566339142
|
0.00001
|
|
NM_182925.5(FLT4):c.619G>A (p.Glu207Lys)
|
rs762995809
|
0.00001
|
|
NM_182931.3(KMT2E):c.2924C>T (p.Thr975Ile)
|
rs769578219
|
0.00001
|
|
NM_182961.4(SYNE1):c.10101G>T (p.Lys3367Asn)
|
rs781043895
|
0.00001
|
|
NM_182961.4(SYNE1):c.10117C>G (p.Leu3373Val)
|
rs1022927290
|
0.00001
|
|
NM_182961.4(SYNE1):c.10294G>A (p.Ala3432Thr)
|
rs2096943261
|
0.00001
|
|
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val)
|
rs1270266905
|
0.00001
|
|
NM_182961.4(SYNE1):c.1047G>T (p.Gln349His)
|
rs936806773
|
0.00001
|
|
NM_182961.4(SYNE1):c.10624T>G (p.Cys3542Gly)
|
rs751032216
|
0.00001
|
|
NM_182961.4(SYNE1):c.10856A>G (p.Glu3619Gly)
|
rs1563302625
|
0.00001
|
|
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala)
|
rs372327585
|
0.00001
|
|
NM_182961.4(SYNE1):c.11561C>T (p.Ala3854Val)
|
rs1563277211
|
0.00001
|
|
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe)
|
rs1294787806
|
0.00001
|
|
NM_182961.4(SYNE1):c.12497A>G (p.Asn4166Ser)
|
rs1554486430
|
0.00001
|
|
NM_182961.4(SYNE1):c.12559G>A (p.Ala4187Thr)
|
rs2153982762
|
0.00001
|
|
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
|
rs764669526
|
0.00001
|
|
NM_182961.4(SYNE1):c.12590A>T (p.Asn4197Ile)
|
rs985474571
|
0.00001
|
|
NM_182961.4(SYNE1):c.12700G>A (p.Glu4234Lys)
|
rs754105605
|
0.00001
|
|
NM_182961.4(SYNE1):c.12733T>A (p.Cys4245Ser)
|
rs370010653
|
0.00001
|
|
NM_182961.4(SYNE1):c.12749A>C (p.Glu4250Ala)
|
rs1001209044
|
0.00001
|
|
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg)
|
rs543437113
|
0.00001
|
|
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)
|
rs745789075
|
0.00001
|
|
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys)
|
rs778601377
|
0.00001
|
|
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His)
|
rs768085752
|
0.00001
|
|
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)
|
rs747550581
|
0.00001
|
|
NM_182961.4(SYNE1):c.1368G>A (p.Thr456=)
|
rs745809986
|
0.00001
|
|
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
|
rs147595331
|
0.00001
|
|
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
|
rs377099959
|
0.00001
|
|
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser)
|
rs1362233016
|
0.00001
|
|
NM_182961.4(SYNE1):c.14017C>T (p.Arg4673Trp)
|
rs1194776782
|
0.00001
|
|
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp)
|
rs1469601635
|
0.00001
|
|
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile)
|
rs952688216
|
0.00001
|
|
NM_182961.4(SYNE1):c.14262C>T (p.His4754=)
|
rs750553130
|
0.00001
|
|
NM_182961.4(SYNE1):c.14306G>A (p.Arg4769Lys)
|
rs770589390
|
0.00001
|
|
NM_182961.4(SYNE1):c.14350G>A (p.Glu4784Lys)
|
rs762072539
|
0.00001
|
|
NM_182961.4(SYNE1):c.1454T>C (p.Met485Thr)
|
rs757612135
|
0.00001
|
|
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser)
|
rs1237053788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14624C>T (p.Thr4875Met)
|
rs372315956
|
0.00001
|
|
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)
|
rs1159750019
|
0.00001
|
|
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
|
rs201619636
|
0.00001
|
|
NM_182961.4(SYNE1):c.14929A>G (p.Ile4977Val)
|
rs142584676
|
0.00001
|
|
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys)
|
rs753602210
|
0.00001
|
|
NM_182961.4(SYNE1):c.15097A>G (p.Lys5033Glu)
|
rs1295214832
|
0.00001
|
|
NM_182961.4(SYNE1):c.15329G>T (p.Arg5110Met)
|
rs749734325
|
0.00001
|
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
|
NM_182961.4(SYNE1):c.15637T>C (p.Trp5213Arg)
|
rs775534988
|
0.00001
|
|
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu)
|
rs764500952
|
0.00001
|
|
NM_182961.4(SYNE1):c.15803T>C (p.Leu5268Ser)
|
rs373724765
|
0.00001
|
|
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln)
|
rs201750136
|
0.00001
|
|
NM_182961.4(SYNE1):c.1591G>A (p.Gly531Arg)
|
rs773086853
|
0.00001
|
|
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala)
|
rs148295255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)
|
rs747824937
|
0.00001
|
|
NM_182961.4(SYNE1):c.16411G>A (p.Gly5471Ser)
|
rs778424548
|
0.00001
|
|
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp)
|
rs769306377
|
0.00001
|
|
NM_182961.4(SYNE1):c.16660A>G (p.Ile5554Val)
|
rs886044471
|
0.00001
|
|
NM_182961.4(SYNE1):c.16874A>C (p.Gln5625Pro)
|
rs1273499044
|
0.00001
|
|
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln)
|
rs886043150
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347-3C>T
|
rs1424271720
|
0.00001
|
|
NM_182961.4(SYNE1):c.17401A>C (p.Lys5801Gln)
|
rs372368464
|
0.00001
|
|
NM_182961.4(SYNE1):c.17824C>T (p.Arg5942Cys)
|
rs770337064
|
0.00001
|
|
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr)
|
rs375798794
|
0.00001
|
|
NM_182961.4(SYNE1):c.17997G>C (p.Gln5999His)
|
rs886043024
|
0.00001
|
|
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
|
rs1279972048
|
0.00001
|
|
NM_182961.4(SYNE1):c.18073G>A (p.Ala6025Thr)
|
rs886042460
|
0.00001
|
|
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys)
|
rs1279573379
|
0.00001
|
|
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile)
|
rs899182753
|
0.00001
|
|
NM_182961.4(SYNE1):c.18383A>G (p.Asn6128Ser)
|
rs1444859396
|
0.00001
|
|
NM_182961.4(SYNE1):c.18573+3G>A
|
rs886044046
|
0.00001
|
|
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
|
rs538161615
|
0.00001
|
|
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro)
|
rs371489057
|
0.00001
|
|
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys)
|
rs139449273
|
0.00001
|
|
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg)
|
rs572189966
|
0.00001
|
|
NM_182961.4(SYNE1):c.19172C>A (p.Ser6391Tyr)
|
rs1411390230
|
0.00001
|
|
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn)
|
rs376421422
|
0.00001
|
|
NM_182961.4(SYNE1):c.19444A>G (p.Arg6482Gly)
|
rs926507956
|
0.00001
|
|
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser)
|
rs756816038
|
0.00001
|
|
NM_182961.4(SYNE1):c.19470+5G>A
|
rs775233950
|
0.00001
|
|
NM_182961.4(SYNE1):c.19561G>C (p.Glu6521Gln)
|
rs199560890
|
0.00001
|
|
NM_182961.4(SYNE1):c.19586C>T (p.Ala6529Val)
|
rs1413633616
|
0.00001
|
|
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His)
|
rs375565416
|
0.00001
|
|
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)
|
rs766241487
|
0.00001
|
|
NM_182961.4(SYNE1):c.19664C>T (p.Pro6555Leu)
|
rs768170282
|
0.00001
|
|
NM_182961.4(SYNE1):c.19703A>G (p.Asp6568Gly)
|
rs756092842
|
0.00001
|
|
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala)
|
rs753654674
|
0.00001
|
|
NM_182961.4(SYNE1):c.20582G>A (p.Ser6861Asn)
|
rs2083374987
|
0.00001
|
|
NM_182961.4(SYNE1):c.20833G>A (p.Ala6945Thr)
|
rs186777944
|
0.00001
|
|
NM_182961.4(SYNE1):c.2098-3C>T
|
rs373007404
|
0.00001
|
|
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
|
rs746037945
|
0.00001
|
|
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)
|
rs777755452
|
0.00001
|
|
NM_182961.4(SYNE1):c.21293G>C (p.Ser7098Thr)
|
rs780150533
|
0.00001
|
|
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg)
|
rs769405487
|
0.00001
|
|
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe)
|
rs776459203
|
0.00001
|
|
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser)
|
rs1348902701
|
0.00001
|
|
NM_182961.4(SYNE1):c.21947C>T (p.Ala7316Val)
|
rs2079453119
|
0.00001
|
|
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
|
rs1029115177
|
0.00001
|
|
NM_182961.4(SYNE1):c.22580T>C (p.Val7527Ala)
|
rs1377398407
|
0.00001
|
|
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys)
|
rs1383141765
|
0.00001
|
|
NM_182961.4(SYNE1):c.2264G>A (p.Arg755Lys)
|
rs1301440544
|
0.00001
|
|
NM_182961.4(SYNE1):c.2272G>C (p.Val758Leu)
|
rs1431805592
|
0.00001
|
|
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met)
|
rs748623485
|
0.00001
|
|
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu)
|
rs540603947
|
0.00001
|
|
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu)
|
rs776253447
|
0.00001
|
|
NM_182961.4(SYNE1):c.23027A>G (p.Glu7676Gly)
|
rs1433074175
|
0.00001
|
|
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His)
|
rs750911961
|
0.00001
|
|
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe)
|
rs778500015
|
0.00001
|
|
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
|
rs779568455
|
0.00001
|
|
NM_182961.4(SYNE1):c.23358T>A (p.Ser7786Arg)
|
rs748682472
|
0.00001
|
|
NM_182961.4(SYNE1):c.23482A>G (p.Ile7828Val)
|
rs147268637
|
0.00001
|
|
NM_182961.4(SYNE1):c.23511A>T (p.Gln7837His)
|
rs185030521
|
0.00001
|
|
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys)
|
rs1178007789
|
0.00001
|
|
NM_182961.4(SYNE1):c.23849G>A (p.Cys7950Tyr)
|
rs1257599076
|
0.00001
|
|
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
|
rs140784556
|
0.00001
|
|
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys)
|
rs777371816
|
0.00001
|
|
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)
|
rs267600862
|
0.00001
|
|
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His)
|
rs1338634888
|
0.00001
|
|
NM_182961.4(SYNE1):c.24312+8C>G
|
rs780026181
|
0.00001
|
|
NM_182961.4(SYNE1):c.24781C>G (p.Leu8261Val)
|
rs567391477
|
0.00001
|
|
NM_182961.4(SYNE1):c.24962C>T (p.Ala8321Val)
|
rs1053343071
|
0.00001
|
|
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln)
|
rs200684943
|
0.00001
|
|
NM_182961.4(SYNE1):c.25057G>A (p.Glu8353Lys)
|
rs1472181808
|
0.00001
|
|
NM_182961.4(SYNE1):c.25159G>A (p.Val8387Met)
|
rs119103247
|
0.00001
|
|
NM_182961.4(SYNE1):c.25253T>C (p.Ile8418Thr)
|
rs2058223015
|
0.00001
|
|
NM_182961.4(SYNE1):c.25489G>A (p.Ala8497Thr)
|
rs777390431
|
0.00001
|
|
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp)
|
rs375616724
|
0.00001
|
|
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His)
|
rs759577495
|
0.00001
|
|
NM_182961.4(SYNE1):c.25579A>G (p.Met8527Val)
|
rs1216901317
|
0.00001
|
|
NM_182961.4(SYNE1):c.25667A>G (p.His8556Arg)
|
rs1449253317
|
0.00001
|
|
NM_182961.4(SYNE1):c.25681G>A (p.Gly8561Ser)
|
rs1187669309
|
0.00001
|
|
NM_182961.4(SYNE1):c.25921C>T (p.Arg8641Trp)
|
rs762289784
|
0.00001
|
|
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr)
|
rs1229969547
|
0.00001
|
|
NM_182961.4(SYNE1):c.26081A>G (p.Asn8694Ser)
|
rs144370154
|
0.00001
|
|
NM_182961.4(SYNE1):c.26108G>A (p.Cys8703Tyr)
|
rs759937382
|
0.00001
|
|
NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly)
|
rs151281204
|
0.00001
|
|
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)
|
rs1276774540
|
0.00001
|
|
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)
|
rs757466963
|
0.00001
|
|
NM_182961.4(SYNE1):c.26288G>A (p.Cys8763Tyr)
|
rs759447071
|
0.00001
|
|
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
|
rs747405346
|
0.00001
|
|
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val)
|
rs376880609
|
0.00001
|
|
NM_182961.4(SYNE1):c.2822A>G (p.Lys941Arg)
|
rs764070602
|
0.00001
|
|
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
|
rs1374710512
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-469C>T
|
rs762351812
|
0.00001
|
|
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)
|
rs750101869
|
0.00001
|
|
NM_182961.4(SYNE1):c.3586T>C (p.Ser1196Pro)
|
rs754971553
|
0.00001
|
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
|
NM_182961.4(SYNE1):c.3817C>A (p.Gln1273Lys)
|
rs777455825
|
0.00001
|
|
NM_182961.4(SYNE1):c.3838C>A (p.Gln1280Lys)
|
rs2154233505
|
0.00001
|
|
NM_182961.4(SYNE1):c.3971T>C (p.Leu1324Pro)
|
rs911005692
|
0.00001
|
|
NM_182961.4(SYNE1):c.4316A>C (p.Lys1439Thr)
|
rs1188144545
|
0.00001
|
|
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu)
|
rs1302474521
|
0.00001
|
|
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)
|
rs746438011
|
0.00001
|
|
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln)
|
rs760544014
|
0.00001
|
|
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val)
|
rs753598584
|
0.00001
|
|
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met)
|
rs199797561
|
0.00001
|
|
NM_182961.4(SYNE1):c.4947G>A (p.Ala1649=)
|
rs771626624
|
0.00001
|
|
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys)
|
rs373448917
|
0.00001
|
|
NM_182961.4(SYNE1):c.5039C>T (p.Ser1680Phe)
|
rs1296510083
|
0.00001
|
|
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg)
|
rs200766001
|
0.00001
|
|
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile)
|
rs1467783489
|
0.00001
|
|
NM_182961.4(SYNE1):c.6020A>G (p.Lys2007Arg)
|
rs754074875
|
0.00001
|
|
NM_182961.4(SYNE1):c.6265A>G (p.Arg2089Gly)
|
rs1488630819
|
0.00001
|
|
NM_182961.4(SYNE1):c.6476T>G (p.Ile2159Ser)
|
rs776557962
|
0.00001
|
|
NM_182961.4(SYNE1):c.6506C>T (p.Thr2169Ile)
|
rs954031398
|
0.00001
|
|
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
|
rs2099051828
|
0.00001
|
|
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly)
|
rs777595583
|
0.00001
|
|
NM_182961.4(SYNE1):c.701C>T (p.Ser234Phe)
|
rs773755776
|
0.00001
|
|
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His)
|
rs554035671
|
0.00001
|
|
NM_182961.4(SYNE1):c.721G>T (p.Asp241Tyr)
|
rs1433954224
|
0.00001
|
|
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
|
rs765978097
|
0.00001
|
|
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
|
rs140948068
|
0.00001
|
|
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe)
|
rs757562714
|
0.00001
|
|
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
|
rs756083475
|
0.00001
|
|
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
|
rs528549317
|
0.00001
|
|
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln)
|
rs769840610
|
0.00001
|
|
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys)
|
rs1186798259
|
0.00001
|
|
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
|
rs755463414
|
0.00001
|
|
NM_182961.4(SYNE1):c.842A>G (p.His281Arg)
|
rs769867580
|
0.00001
|
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00001
|
|
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
|
rs1179794199
|
0.00001
|
|
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys)
|
rs760074927
|
0.00001
|
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00001
|
|
NM_182961.4(SYNE1):c.9341G>A (p.Ser3114Asn)
|
rs746850982
|
0.00001
|
|
NM_182961.4(SYNE1):c.9520C>G (p.Gln3174Glu)
|
rs1222544021
|
0.00001
|
|
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met)
|
rs587777426
|
0.00001
|
|
NM_182961.4(SYNE1):c.9703G>C (p.Glu3235Gln)
|
rs896485945
|
0.00001
|
|
NM_182961.4(SYNE1):c.9732A>C (p.Gln3244His)
|
rs958873300
|
0.00001
|
|
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
|
rs1896186645
|
0.00001
|
|
NM_183357.3(ADCY5):c.2306C>T (p.Ser769Leu)
|
rs775356742
|
0.00001
|
|
NM_183357.3(ADCY5):c.2872G>A (p.Ala958Thr)
|
rs764072307
|
0.00001
|
|
NM_194250.2(ZNF804A):c.848C>A (p.Ala283Glu)
|
rs1415787156
|
0.00001
|
|
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)
|
rs376806042
|
0.00001
|
|
NM_197968.4(ZMYM2):c.3019G>A (p.Glu1007Lys)
|
rs914448053
|
0.00001
|
|
NM_198182.3(GRHL1):c.1360C>T (p.Arg454Ter)
|
rs1229743095
|
0.00001
|
|
NM_198252.3(GSN):c.616C>T (p.Arg206Ter)
|
rs376060588
|
0.00001
|
|
NM_198253.3(TERT):c.76A>G (p.Thr26Ala)
|
rs1579599309
|
0.00001
|
|
NM_198391.3(FLRT3):c.1727C>T (p.Ala576Val)
|
rs745695091
|
0.00001
|
|
NM_198576.4(AGRN):c.1678G>A (p.Val560Met)
|
rs761396188
|
0.00001
|
|
NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu)
|
rs1214623286
|
0.00001
|
|
NM_198576.4(AGRN):c.2867G>A (p.Arg956His)
|
rs757057339
|
0.00001
|
|
NM_198576.4(AGRN):c.3935C>A (p.Thr1312Asn)
|
rs764825185
|
0.00001
|
|
NM_198576.4(AGRN):c.3977C>A (p.Pro1326His)
|
rs775059552
|
0.00001
|
|
NM_198576.4(AGRN):c.410G>T (p.Ser137Ile)
|
rs376542441
|
0.00001
|
|
NM_198576.4(AGRN):c.4503C>G (p.Asp1501Glu)
|
rs770460630
|
0.00001
|
|
NM_198576.4(AGRN):c.5293G>A (p.Val1765Ile)
|
rs369850742
|
0.00001
|
|
NM_198576.4(AGRN):c.5670C>A (p.Ser1890Arg)
|
rs1645376610
|
0.00001
|
|
NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)
|
rs777885030
|
0.00001
|
|
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp)
|
rs1408343754
|
0.00001
|
|
NM_198904.4(GABRG2):c.644G>A (p.Arg215His)
|
rs1561645172
|
0.00001
|
|
NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)
|
rs751452220
|
0.00001
|
|
NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp)
|
rs749580256
|
0.00001
|
|
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)
|
rs558726483
|
0.00001
|
|
NM_201384.3(PLEC):c.10037C>G (p.Ser3346Cys)
|
rs368616323
|
0.00001
|
|
NM_201384.3(PLEC):c.10075G>A (p.Gly3359Ser)
|
rs782459267
|
0.00001
|
|
NM_201384.3(PLEC):c.10244C>T (p.Ala3415Val)
|
rs201343829
|
0.00001
|
|
NM_201384.3(PLEC):c.1031A>G (p.Gln344Arg)
|
rs1368961679
|
0.00001
|
|
NM_201384.3(PLEC):c.10444C>T (p.Arg3482Cys)
|
rs370181826
|
0.00001
|
|
NM_201384.3(PLEC):c.10501G>A (p.Val3501Ile)
|
rs782252148
|
0.00001
|
|
NM_201384.3(PLEC):c.10754T>C (p.Met3585Thr)
|
rs782526167
|
0.00001
|
|
NM_201384.3(PLEC):c.10775A>G (p.Gln3592Arg)
|
rs1554677001
|
0.00001
|
|
NM_201384.3(PLEC):c.1088C>T (p.Pro363Leu)
|
rs782699072
|
0.00001
|
|
NM_201384.3(PLEC):c.10927G>A (p.Val3643Met)
|
rs372569386
|
0.00001
|
|
NM_201384.3(PLEC):c.10928T>G (p.Val3643Gly)
|
rs1057008805
|
0.00001
|
|
NM_201384.3(PLEC):c.11299G>A (p.Ala3767Thr)
|
rs782235531
|
0.00001
|
|
NM_201384.3(PLEC):c.1138C>T (p.Arg380Trp)
|
rs782271562
|
0.00001
|
|
NM_201384.3(PLEC):c.11414C>T (p.Ala3805Val)
|
rs1025558613
|
0.00001
|
|
NM_201384.3(PLEC):c.11531G>A (p.Arg3844His)
|
rs782652438
|
0.00001
|
|
NM_201384.3(PLEC):c.11747C>T (p.Thr3916Ile)
|
rs781938577
|
0.00001
|
|
NM_201384.3(PLEC):c.11765C>G (p.Thr3922Ser)
|
rs782210275
|
0.00001
|
|
NM_201384.3(PLEC):c.11824G>A (p.Ala3942Thr)
|
rs370908106
|
0.00001
|
|
NM_201384.3(PLEC):c.11876G>A (p.Arg3959His)
|
rs782457644
|
0.00001
|
|
NM_201384.3(PLEC):c.11885C>T (p.Thr3962Ile)
|
rs398123395
|
0.00001
|
|
NM_201384.3(PLEC):c.1192G>A (p.Val398Met)
|
rs1001857933
|
0.00001
|
|
NM_201384.3(PLEC):c.11936C>G (p.Pro3979Arg)
|
rs1554673413
|
0.00001
|
|
NM_201384.3(PLEC):c.12026G>A (p.Arg4009His)
|
rs564907731
|
0.00001
|
|
NM_201384.3(PLEC):c.12232G>A (p.Glu4078Lys)
|
rs782767430
|
0.00001
|
|
NM_201384.3(PLEC):c.12244G>A (p.Asp4082Asn)
|
rs201221940
|
0.00001
|
|
NM_201384.3(PLEC):c.12256G>A (p.Asp4086Asn)
|
rs371832085
|
0.00001
|
|
NM_201384.3(PLEC):c.12430G>A (p.Val4144Met)
|
rs541897170
|
0.00001
|
|
NM_201384.3(PLEC):c.12476G>A (p.Arg4159His)
|
rs200506691
|
0.00001
|
|
NM_201384.3(PLEC):c.12500C>T (p.Thr4167Met)
|
rs782411778
|
0.00001
|
|
NM_201384.3(PLEC):c.12517G>A (p.Glu4173Lys)
|
rs868975952
|
0.00001
|
|
NM_201384.3(PLEC):c.1252C>G (p.Leu418Val)
|
rs782155361
|
0.00001
|
|
NM_201384.3(PLEC):c.125G>A (p.Arg42His)
|
rs781949709
|
0.00001
|
|
NM_201384.3(PLEC):c.12622G>A (p.Ala4208Thr)
|
rs1212706018
|
0.00001
|
|
NM_201384.3(PLEC):c.12668G>A (p.Arg4223His)
|
rs782484926
|
0.00001
|
|
NM_201384.3(PLEC):c.12673G>A (p.Gly4225Ser)
|
rs782770333
|
0.00001
|
|
NM_201384.3(PLEC):c.12688A>G (p.Thr4230Ala)
|
rs782103602
|
0.00001
|
|
NM_201384.3(PLEC):c.12860A>G (p.Glu4287Gly)
|
rs1554670527
|
0.00001
|
|
NM_201384.3(PLEC):c.1291G>A (p.Val431Met)
|
rs1430989236
|
0.00001
|
|
NM_201384.3(PLEC):c.13043G>A (p.Arg4348His)
|
rs1361207987
|
0.00001
|
|
NM_201384.3(PLEC):c.1304C>T (p.Ala435Val)
|
rs782509734
|
0.00001
|
|
NM_201384.3(PLEC):c.1331A>C (p.Lys444Thr)
|
rs376827924
|
0.00001
|
|
NM_201384.3(PLEC):c.13504C>T (p.Arg4502Cys)
|
rs781871638
|
0.00001
|
|
NM_201384.3(PLEC):c.13547C>T (p.Thr4516Ile)
|
rs1320878270
|
0.00001
|
|
NM_201384.3(PLEC):c.1459G>A (p.Glu487Lys)
|
rs371046649
|
0.00001
|
|
NM_201384.3(PLEC):c.1490C>T (p.Ala497Val)
|
rs782639948
|
0.00001
|
|
NM_201384.3(PLEC):c.1624G>A (p.Ala542Thr)
|
rs369715210
|
0.00001
|
|
NM_201384.3(PLEC):c.1759C>T (p.Arg587Trp)
|
rs554022624
|
0.00001
|
|
NM_201384.3(PLEC):c.1849A>G (p.Ser617Gly)
|
rs782324852
|
0.00001
|
|
NM_201384.3(PLEC):c.1927G>A (p.Asp643Asn)
|
rs375857355
|
0.00001
|
|
NM_201384.3(PLEC):c.2017A>G (p.Lys673Glu)
|
rs1407260713
|
0.00001
|
|
NM_201384.3(PLEC):c.2127G>C (p.Gln709His)
|
rs1303759485
|
0.00001
|
|
NM_201384.3(PLEC):c.2195G>A (p.Arg732Gln)
|
rs563070961
|
0.00001
|
|
NM_201384.3(PLEC):c.2258G>A (p.Arg753His)
|
rs782343456
|
0.00001
|
|
NM_201384.3(PLEC):c.2308G>A (p.Glu770Lys)
|
rs369133057
|
0.00001
|
|
NM_201384.3(PLEC):c.2468A>C (p.His823Pro)
|
rs1564108801
|
0.00001
|
|
NM_201384.3(PLEC):c.2559C>T (p.Ser853=)
|
rs976620376
|
0.00001
|
|
NM_201384.3(PLEC):c.2604C>T (p.Ala868=)
|
rs201827413
|
0.00001
|
|
NM_201384.3(PLEC):c.2665G>A (p.Asp889Asn)
|
rs1393840605
|
0.00001
|
|
NM_201384.3(PLEC):c.2676C>G (p.Ser892Arg)
|
rs782309376
|
0.00001
|
|
NM_201384.3(PLEC):c.2843C>G (p.Pro948Arg)
|
rs537345370
|
0.00001
|
|
NM_201384.3(PLEC):c.3034G>A (p.Asp1012Asn)
|
rs1354214746
|
0.00001
|
|
NM_201384.3(PLEC):c.3074A>G (p.Glu1025Gly)
|
rs2538477643
|
0.00001
|
|
NM_201384.3(PLEC):c.332G>A (p.Arg111Gln)
|
rs782755539
|
0.00001
|
|
NM_201384.3(PLEC):c.3406C>T (p.Arg1136Trp)
|
rs782622571
|
0.00001
|
|
NM_201384.3(PLEC):c.3418G>A (p.Glu1140Lys)
|
rs1194533983
|
0.00001
|
|
NM_201384.3(PLEC):c.3448C>T (p.Arg1150Trp)
|
rs782267740
|
0.00001
|
|
NM_201384.3(PLEC):c.3485G>A (p.Arg1162Gln)
|
rs368280705
|
0.00001
|
|
NM_201384.3(PLEC):c.3513C>T (p.Asp1171=)
|
rs377035218
|
0.00001
|
|
NM_201384.3(PLEC):c.3538C>T (p.Arg1180Trp)
|
rs1383171072
|
0.00001
|
|
NM_201384.3(PLEC):c.3554T>C (p.Leu1185Pro)
|
rs781889681
|
0.00001
|
|
NM_201384.3(PLEC):c.3582G>T (p.Gln1194His)
|
rs782026189
|
0.00001
|
|
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)
|
rs376541112
|
0.00001
|
|
NM_201384.3(PLEC):c.3771G>T (p.Glu1257Asp)
|
rs1313895406
|
0.00001
|
|
NM_201384.3(PLEC):c.3833C>G (p.Ala1278Gly)
|
rs782444749
|
0.00001
|
|
NM_201384.3(PLEC):c.3841G>T (p.Asp1281Tyr)
|
rs781967540
|
0.00001
|
|
NM_201384.3(PLEC):c.3962C>T (p.Thr1321Met)
|
rs782146862
|
0.00001
|
|
NM_201384.3(PLEC):c.398C>T (p.Thr133Ile)
|
rs370111212
|
0.00001
|
|
NM_201384.3(PLEC):c.4018A>C (p.Thr1340Pro)
|
rs782746248
|
0.00001
|
|
NM_201384.3(PLEC):c.4090G>A (p.Glu1364Lys)
|
rs374203605
|
0.00001
|
|
NM_201384.3(PLEC):c.4210C>T (p.Arg1404Trp)
|
rs782370378
|
0.00001
|
|
NM_201384.3(PLEC):c.4277G>A (p.Arg1426Gln)
|
rs1226948756
|
0.00001
|
|
NM_201384.3(PLEC):c.4395G>C (p.Glu1465Asp)
|
rs782121511
|
0.00001
|
|
NM_201384.3(PLEC):c.4445C>T (p.Ala1482Val)
|
rs368728018
|
0.00001
|
|
NM_201384.3(PLEC):c.4492C>T (p.Arg1498Cys)
|
rs782021381
|
0.00001
|
|
NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln)
|
rs782344020
|
0.00001
|
|
NM_201384.3(PLEC):c.4570G>A (p.Glu1524Lys)
|
rs1047641700
|
0.00001
|
|
NM_201384.3(PLEC):c.4583C>T (p.Ala1528Val)
|
rs532681952
|
0.00001
|
|
NM_201384.3(PLEC):c.4657C>T (p.Arg1553Trp)
|
rs781820448
|
0.00001
|
|
NM_201384.3(PLEC):c.4664C>T (p.Ala1555Val)
|
rs781870824
|
0.00001
|
|
NM_201384.3(PLEC):c.4699C>G (p.Leu1567Val)
|
rs782138886
|
0.00001
|
|
NM_201384.3(PLEC):c.4717A>G (p.Ser1573Gly)
|
rs1212000414
|
0.00001
|
|
NM_201384.3(PLEC):c.4759G>A (p.Glu1587Lys)
|
rs868928596
|
0.00001
|
|
NM_201384.3(PLEC):c.4801G>A (p.Val1601Met)
|
rs1185605112
|
0.00001
|
|
NM_201384.3(PLEC):c.4840G>T (p.Ala1614Ser)
|
rs1056417199
|
0.00001
|
|
NM_201384.3(PLEC):c.4841C>T (p.Ala1614Val)
|
rs1208422935
|
0.00001
|
|
NM_201384.3(PLEC):c.4871G>A (p.Arg1624His)
|
rs782531607
|
0.00001
|
|
NM_201384.3(PLEC):c.4973C>T (p.Ala1658Val)
|
rs782338538
|
0.00001
|
|
NM_201384.3(PLEC):c.5132C>T (p.Ala1711Val)
|
rs782732181
|
0.00001
|
|
NM_201384.3(PLEC):c.5143T>G (p.Leu1715Val)
|
rs782295797
|
0.00001
|
|
NM_201384.3(PLEC):c.5185C>T (p.Arg1729Trp)
|
rs538896644
|
0.00001
|
|
NM_201384.3(PLEC):c.5186G>A (p.Arg1729Gln)
|
rs781904392
|
0.00001
|
|
NM_201384.3(PLEC):c.5191C>T (p.Leu1731=)
|
rs1554698837
|
0.00001
|
|
NM_201384.3(PLEC):c.5212C>T (p.Arg1738Trp)
|
rs782696997
|
0.00001
|
|
NM_201384.3(PLEC):c.5272G>A (p.Ala1758Thr)
|
rs1231630450
|
0.00001
|
|
NM_201384.3(PLEC):c.5281C>T (p.Arg1761Trp)
|
rs1286234284
|
0.00001
|
|
NM_201384.3(PLEC):c.5363G>A (p.Arg1788Lys)
|
rs782315395
|
0.00001
|
|
NM_201384.3(PLEC):c.5461G>A (p.Glu1821Lys)
|
rs782659674
|
0.00001
|
|
NM_201384.3(PLEC):c.5488G>A (p.Glu1830Lys)
|
rs1554697350
|
0.00001
|
|
NM_201384.3(PLEC):c.5515C>A (p.Leu1839Met)
|
rs782375864
|
0.00001
|
|
NM_201384.3(PLEC):c.5798G>A (p.Ser1933Asn)
|
rs1288160719
|
0.00001
|
|
NM_201384.3(PLEC):c.5918G>A (p.Arg1973Gln)
|
rs782680523
|
0.00001
|
|
NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)
|
rs886044775
|
0.00001
|
|
NM_201384.3(PLEC):c.6012G>C (p.Arg2004=)
|
rs782708058
|
0.00001
|
|
NM_201384.3(PLEC):c.6028G>C (p.Glu2010Gln)
|
rs782602923
|
0.00001
|
|
NM_201384.3(PLEC):c.6065G>A (p.Arg2022Gln)
|
rs782332277
|
0.00001
|
|
NM_201384.3(PLEC):c.6098C>T (p.Ala2033Val)
|
rs782712639
|
0.00001
|
|
NM_201384.3(PLEC):c.6325C>T (p.Arg2109Trp)
|
rs782507277
|
0.00001
|
|
NM_201384.3(PLEC):c.6346C>T (p.Arg2116Trp)
|
rs142322521
|
0.00001
|
|
NM_201384.3(PLEC):c.6348G>A (p.Arg2116=)
|
rs782758062
|
0.00001
|
|
NM_201384.3(PLEC):c.6415C>T (p.Arg2139Cys)
|
rs782717631
|
0.00001
|
|
NM_201384.3(PLEC):c.6485C>T (p.Ala2162Val)
|
rs374622479
|
0.00001
|
|
NM_201384.3(PLEC):c.6509A>G (p.His2170Arg)
|
rs781891077
|
0.00001
|
|
NM_201384.3(PLEC):c.6646G>A (p.Ala2216Thr)
|
rs1170367970
|
0.00001
|
|
NM_201384.3(PLEC):c.6661C>T (p.Arg2221Cys)
|
rs377275586
|
0.00001
|
|
NM_201384.3(PLEC):c.6742G>A (p.Glu2248Lys)
|
rs1554691569
|
0.00001
|
|
NM_201384.3(PLEC):c.6947T>C (p.Met2316Thr)
|
rs782572408
|
0.00001
|
|
NM_201384.3(PLEC):c.6985G>A (p.Ala2329Thr)
|
rs1554690982
|
0.00001
|
|
NM_201384.3(PLEC):c.698C>T (p.Thr233Met)
|
rs782174639
|
0.00001
|
|
NM_201384.3(PLEC):c.700C>T (p.Arg234Trp)
|
rs1554722091
|
0.00001
|
|
NM_201384.3(PLEC):c.7162C>T (p.Arg2388Cys)
|
rs561405725
|
0.00001
|
|
NM_201384.3(PLEC):c.7195G>A (p.Ala2399Thr)
|
rs782779334
|
0.00001
|
|
NM_201384.3(PLEC):c.7274A>C (p.Gln2425Pro)
|
rs782662646
|
0.00001
|
|
NM_201384.3(PLEC):c.7426-3C>T
|
rs1050298065
|
0.00001
|
|
NM_201384.3(PLEC):c.7486C>T (p.Leu2496Phe)
|
rs782125418
|
0.00001
|
|
NM_201384.3(PLEC):c.7567G>A (p.Glu2523Lys)
|
rs782047869
|
0.00001
|
|
NM_201384.3(PLEC):c.7606C>T (p.Arg2536Trp)
|
rs782809876
|
0.00001
|
|
NM_201384.3(PLEC):c.789C>T (p.Pro263=)
|
rs782100354
|
0.00001
|
|
NM_201384.3(PLEC):c.7906C>T (p.Pro2636Ser)
|
rs781931892
|
0.00001
|
|
NM_201384.3(PLEC):c.8011C>T (p.Arg2671Trp)
|
rs782546279
|
0.00001
|
|
NM_201384.3(PLEC):c.8030C>T (p.Thr2677Ile)
|
rs781973277
|
0.00001
|
|
NM_201384.3(PLEC):c.807G>C (p.Gln269His)
|
rs782272825
|
0.00001
|
|
NM_201384.3(PLEC):c.8195C>T (p.Ala2732Val)
|
rs1554686537
|
0.00001
|
|
NM_201384.3(PLEC):c.8248G>A (p.Val2750Ile)
|
rs982482662
|
0.00001
|
|
NM_201384.3(PLEC):c.8254G>A (p.Glu2752Lys)
|
rs782669949
|
0.00001
|
|
NM_201384.3(PLEC):c.8311G>A (p.Glu2771Lys)
|
rs1554686064
|
0.00001
|
|
NM_201384.3(PLEC):c.8317G>A (p.Ala2773Thr)
|
rs200683827
|
0.00001
|
|
NM_201384.3(PLEC):c.8344A>G (p.Thr2782Ala)
|
rs782190805
|
0.00001
|
|
NM_201384.3(PLEC):c.8384G>A (p.Gly2795Asp)
|
rs782632583
|
0.00001
|
|
NM_201384.3(PLEC):c.838C>T (p.Arg280Cys)
|
rs372997489
|
0.00001
|
|
NM_201384.3(PLEC):c.8410C>T (p.Arg2804Cys)
|
rs369084664
|
0.00001
|
|
NM_201384.3(PLEC):c.8455G>A (p.Val2819Met)
|
rs782271365
|
0.00001
|
|
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)
|
rs935096656
|
0.00001
|
|
NM_201384.3(PLEC):c.8737C>T (p.Pro2913Ser)
|
rs923698692
|
0.00001
|
|
NM_201384.3(PLEC):c.8980C>T (p.Arg2994Cys)
|
rs782044314
|
0.00001
|
|
NM_201384.3(PLEC):c.8983G>A (p.Glu2995Lys)
|
rs375589064
|
0.00001
|
|
NM_201384.3(PLEC):c.9000G>A (p.Leu3000=)
|
rs1554683120
|
0.00001
|
|
NM_201384.3(PLEC):c.9007G>T (p.Gly3003Cys)
|
rs781893712
|
0.00001
|
|
NM_201384.3(PLEC):c.9053G>A (p.Arg3018Gln)
|
rs201831561
|
0.00001
|
|
NM_201384.3(PLEC):c.9108G>T (p.Gln3036His)
|
rs782808081
|
0.00001
|
|
NM_201384.3(PLEC):c.9193G>A (p.Gly3065Arg)
|
rs782159227
|
0.00001
|
|
NM_201384.3(PLEC):c.923C>T (p.Pro308Leu)
|
rs781813266
|
0.00001
|
|
NM_201384.3(PLEC):c.934G>A (p.Glu312Lys)
|
rs577853547
|
0.00001
|
|
NM_201384.3(PLEC):c.949C>G (p.Leu317Val)
|
rs200798987
|
0.00001
|
|
NM_201384.3(PLEC):c.9538G>A (p.Ala3180Thr)
|
rs782281123
|
0.00001
|
|
NM_201384.3(PLEC):c.9592C>T (p.Arg3198Trp)
|
rs781964620
|
0.00001
|
|
NM_201384.3(PLEC):c.9653G>A (p.Arg3218Gln)
|
rs1554680868
|
0.00001
|
|
NM_201384.3(PLEC):c.9706A>G (p.Lys3236Glu)
|
rs576165288
|
0.00001
|
|
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu)
|
rs782085661
|
0.00001
|
|
NM_201384.3(PLEC):c.9832A>G (p.Lys3278Glu)
|
rs1554680143
|
0.00001
|
|
NM_201384.3(PLEC):c.9880G>A (p.Glu3294Lys)
|
rs1233373348
|
0.00001
|
|
NM_201384.3(PLEC):c.9919G>A (p.Gly3307Ser)
|
rs782021653
|
0.00001
|
|
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu)
|
rs779536902
|
0.00001
|
|
NM_203446.3(SYNJ1):c.-32G>A
|
rs1376779658
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3760C>T (p.Pro1254Ser)
|
rs749298495
|
0.00001
|
|
NM_203447.4(DOCK8):c.1787A>G (p.Asn596Ser)
|
rs367602254
|
0.00001
|
|
NM_203447.4(DOCK8):c.3044G>A (p.Arg1015His)
|
rs200494857
|
0.00001
|
|
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg)
|
rs200869192
|
0.00001
|
|
NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn)
|
rs373838988
|
0.00001
|
|
NM_205836.3(FBXO38):c.1208A>G (p.Lys403Arg)
|
rs1290446201
|
0.00001
|
|
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)
|
rs1229969030
|
0.00001
|
|
NM_206933.4(USH2A):c.11532A>G (p.Ile3844Met)
|
rs765306173
|
0.00001
|
|
NM_206933.4(USH2A):c.977A>G (p.Asp326Gly)
|
rs769189385
|
0.00001
|
|
NM_206937.2(LIG4):c.2460G>C (p.Leu820Phe)
|
rs376493360
|
0.00001
|
|
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
|
rs764750397
|
0.00001
|
|
NM_207341.4(ZP1):c.72G>A (p.Leu24=)
|
rs779268622
|
0.00001
|
|
NM_207346.3(TSEN54):c.1121G>A (p.Arg374Gln)
|
rs17854519
|
0.00001
|
|
NM_207346.3(TSEN54):c.971C>T (p.Pro324Leu)
|
rs778507928
|
0.00001
|
|
NM_207346.3(TSEN54):c.988C>T (p.Arg330Trp)
|
rs748429211
|
0.00001
|
|
NM_207361.6(FREM2):c.6547A>G (p.Thr2183Ala)
|
rs762786368
|
0.00001
|
|
NM_207361.6(FREM2):c.7533C>T (p.Pro2511=)
|
rs370338634
|
0.00001
|
|
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser)
|
rs754336717
|
0.00001
|
|
NM_212482.4(FN1):c.4588T>G (p.Leu1530Val)
|
rs1012955423
|
0.00001
|
|
NM_212482.4(FN1):c.6242A>C (p.Lys2081Thr)
|
rs772288627
|
0.00001
|
|
NM_212482.4(FN1):c.74G>A (p.Gly25Glu)
|
rs778918483
|
0.00001
|
|
NM_213595.4(ISCU):c.314C>G (p.Ala105Gly)
|
rs145206633
|
0.00001
|
|
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg)
|
rs541372136
|
0.00001
|
|
NM_213599.3(ANO5):c.11C>G (p.Pro4Arg)
|
rs376116831
|
0.00001
|
|
NM_213599.3(ANO5):c.1228T>C (p.Tyr410His)
|
rs1213299645
|
0.00001
|
|
NM_213599.3(ANO5):c.1243G>A (p.Val415Met)
|
rs886042432
|
0.00001
|
|
NM_213599.3(ANO5):c.1367T>A (p.Ile456Asn)
|
rs748907726
|
0.00001
|
|
NM_213599.3(ANO5):c.1372T>C (p.Trp458Arg)
|
rs1398252521
|
0.00001
|
|
NM_213599.3(ANO5):c.1484T>C (p.Met495Thr)
|
rs771881830
|
0.00001
|
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
|
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr)
|
rs763783201
|
0.00001
|
|
NM_213599.3(ANO5):c.1888G>A (p.Ala630Thr)
|
rs751996270
|
0.00001
|
|
NM_213599.3(ANO5):c.1934G>A (p.Arg645Gln)
|
rs762414395
|
0.00001
|
|
NM_213599.3(ANO5):c.1984G>C (p.Glu662Gln)
|
rs1162044853
|
0.00001
|
|
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile)
|
rs778772732
|
0.00001
|
|
NM_213599.3(ANO5):c.2516T>C (p.Met839Thr)
|
rs150442899
|
0.00001
|
|
NM_213599.3(ANO5):c.263A>G (p.Asp88Gly)
|
rs1206860357
|
0.00001
|
|
NM_213599.3(ANO5):c.293C>T (p.Ala98Val)
|
rs201776515
|
0.00001
|
|
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
|
rs575008764
|
0.00001
|
|
NM_213599.3(ANO5):c.436G>A (p.Val146Ile)
|
rs1396031481
|
0.00001
|
|
NM_213599.3(ANO5):c.454C>G (p.Pro152Ala)
|
rs995637790
|
0.00001
|
|
NM_213607.3(DNAAF19):c.277G>A (p.Glu93Lys)
|
rs374023294
|
0.00001
|
|
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg)
|
rs945463572
|
0.00001
|
|
NC_000001.11:g.237610838A>G
|
rs727504133
|
|
|
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr)
|
rs1424545377
|
|
|
NM_000016.6(ACADM):c.806G>A (p.Gly269Asp)
|
rs1325021328
|
|
|
NM_000016.6(ACADM):c.813A>C (p.Lys271Asn)
|
rs1648083262
|
|
|
NM_000017.4(ACADS):c.157T>G (p.Leu53Val)
|
rs1883110478
|
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
|
NM_000017.4(ACADS):c.610G>C (p.Ala204Pro)
|
rs767676875
|
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
rs2071296504
|
|
|
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)
|
rs1451455641
|
|
|
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys)
|
rs1567567312
|
|
|
NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)
|
rs2508370895
|
|
|
NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)
|
rs896667218
|
|
|
NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)
|
rs794727772
|
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
|
NM_000018.4(ACADVL):c.753-36C>T
|
rs747964332
|
|
|
NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)
|
rs774716484
|
|
|
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
|
rs2496621294
|
|
|
NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe)
|
rs2540164977
|
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
|
NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)
|
rs60407644
|
|
|
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.319G>A (p.Ala107Thr)
|
rs2509120203
|
|
|
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)
|
rs1905070029
|
|
|
NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)
|
rs538696245
|
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
|
NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
|
rs2144498202
|
|
|
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)
|
rs138254713
|
|
|
NM_000023.4(SGCA):c.748-10C>A
|
rs886042777
|
|
|
NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
|
rs2509125125
|
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
|
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)
|
rs2045013571
|
|
|
NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)
|
rs2476840957
|
|
|
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)
|
rs1827552198
|
|
|
NM_000032.5(ALAS2):c.1066G>A (p.Val356Met)
|
rs2519579509
|
|
|
NM_000032.5(ALAS2):c.1232G>A (p.Arg411His)
|
rs2519578166
|
|
|
NM_000032.5(ALAS2):c.1276A>G (p.Met426Val)
|
rs2519578090
|
|
|
NM_000032.5(ALAS2):c.1744_1746delinsA (p.Tyr582fs)
|
rs1935552503
|
|
|
NM_000032.5(ALAS2):c.568G>C (p.Asp190His)
|
rs188389696
|
|
|
NM_000032.5(ALAS2):c.679C>T (p.Arg227Cys)
|
rs2519586472
|
|
|
NM_000032.5(ALAS2):c.680G>A (p.Arg227His)
|
rs866599436
|
|
|
NM_000032.5(ALAS2):c.716T>C (p.Leu239Pro)
|
rs2519586416
|
|
|
NM_000033.4(ABCD1):c.1007A>G (p.Lys336Arg)
|
rs2522276299
|
|
|
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
|
rs781828983
|
|
|
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
|
rs2522276389
|
|
|
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)
|
rs2148392029
|
|
|
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
|
rs1557053262
|
|
|
NM_000033.4(ABCD1):c.110G>C (p.Arg37Pro)
|
rs1257848735
|
|
|
NM_000033.4(ABCD1):c.1136G>A (p.Ser379Asn)
|
rs2522288152
|
|
|
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)
|
rs2148395465
|
|
|
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)
|
rs2148395474
|
|
|
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)
|
rs2148395475
|
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
rs2522288539
|
|
|
NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)
|
rs2091750657
|
|
|
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
|
rs141446687
|
|
|
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del)
|
rs1603234766
|
|
|
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
|
rs2091762306
|
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
rs2522297059
|
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
|
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)
|
rs782370364
|
|
|
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
|
rs2091762670
|
|
|
NM_000033.4(ABCD1):c.1583GTG[1] (p.Gly529del)
|
rs2522297379
|
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
|
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)
|
rs2148397902
|
|
|
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
|
rs2091764595
|
|
|
NM_000033.4(ABCD1):c.1747G>C (p.Val583Leu)
|
rs1569541120
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
|
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg)
|
rs1569541194
|
|
|
NM_000033.4(ABCD1):c.1850G>C (p.Arg617Pro)
|
rs11146842
|
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
|
NM_000033.4(ABCD1):c.1927A>T (p.Ile643Phe)
|
rs2091773850
|
|
|
NM_000033.4(ABCD1):c.1928T>C (p.Ile643Thr)
|
rs2522303464
|
|
|
NM_000033.4(ABCD1):c.1932C>A (p.Phe644Leu)
|
rs2148399261
|
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
|
NM_000033.4(ABCD1):c.2011C>A (p.Leu671Ile)
|
rs1557055399
|
|
|
NM_000033.4(ABCD1):c.2029G>A (p.Gly677Ser)
|
rs2522304417
|
|
|
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
|
rs782104487
|
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
|
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
|
rs2522304707
|
|
|
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
|
rs2522304814
|
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
|
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
|
rs2091702555
|
|
|
NM_000033.4(ABCD1):c.236T>C (p.Leu79Pro)
|
rs2522264223
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
rs2522264348
|
|
|
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
|
rs2091705016
|
|
|
NM_000033.4(ABCD1):c.314C>G (p.Thr105Ser)
|
rs2148388980
|
|
|
NM_000033.4(ABCD1):c.335C>T (p.Ala112Val)
|
rs2522264959
|
|
|
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)
|
rs2148389278
|
|
|
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
|
rs1603232005
|
|
|
NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)
|
rs782723351
|
|
|
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)
|
rs1569540703
|
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
|
NM_000033.4(ABCD1):c.615_617dup (p.Ala206_Ser207insAla)
|
rs2522266781
|
|
|
NM_000033.4(ABCD1):c.616G>C (p.Ala206Pro)
|
rs2522266795
|
|
|
NM_000033.4(ABCD1):c.630C>G (p.His210Gln)
|
rs2522266871
|
|
|
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
|
rs782305445
|
|
|
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)
|
rs1557052478
|
|
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
|
|
NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)
|
rs1131691743
|
|
|
NM_000033.4(ABCD1):c.763G>A (p.Ala255Thr)
|
rs782688967
|
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
|
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
|
rs2522268102
|
|
|
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
|
rs2148389897
|
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
|
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
|
rs782334088
|
|
|
NM_000033.4(ABCD1):c.857T>G (p.Val286Gly)
|
rs2522268542
|
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
rs868934170
|
|
|
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
|
rs2522263090
|
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
|
NM_000033.4(ABCD1):c.880G>C (p.Ala294Pro)
|
rs1131691954
|
|
|
NM_000033.4(ABCD1):c.88C>G (p.His30Asp)
|
rs2522263111
|
|
|
NM_000033.4(ABCD1):c.925T>C (p.Ser309Pro)
|
rs2522275988
|
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
rs2522276173
|
|
|
NM_000033.4(ABCD1):c.977_985del (p.Trp326_Met329delinsLeu)
|
rs2522276199
|
|
|
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
|
rs2526335708
|
|
|
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
|
rs146036570
|
|
|
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
|
rs142643298
|
|
|
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
|
rs747080047
|
|
|
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
|
rs2101722333
|
|
|
NM_000036.3(AMPD1):c.5del (p.Pro2fs)
|
rs557878856
|
|
|
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
|
rs2526357545
|
|
|
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
|
rs762195221
|
|
|
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
|
rs2526353884
|
|
|
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
|
rs2486943997
|
|
|
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln)
|
rs776721065
|
|
|
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
|
rs1289306868
|
|
|
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
|
rs2486899797
|
|
|
NM_000037.4(ANK1):c.1801-3C>G
|
rs2486870593
|
|
|
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
|
rs921218224
|
|
|
NM_000037.4(ANK1):c.2098-5T>C
|
rs2150613009
|
|
|
NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)
|
rs1296942730
|
|
|
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
|
rs1586512319
|
|
|
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
|
rs759870967
|
|
|
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)
|
rs2487002741
|
|
|
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)
|
rs2487002741
|
|
|
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
|
rs2486794134
|
|
|
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
|
rs1327804280
|
|
|
NM_000037.4(ANK1):c.28-6_29dup
|
rs2487161455
|
|
|
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
|
rs1162104983
|
|
|
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
|
rs1228486713
|
|
|
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
|
rs202226361
|
|
|
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
|
rs2486776822
|
|
|
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu)
|
rs267601925
|
|
|
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)
|
rs2150592257
|
|
|
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)
|
rs2486769468
|
|
|
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
|
rs2486769429
|
|
|
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
|
rs1586505238
|
|
|
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
|
rs2486759831
|
|
|
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
|
rs148942046
|
|
|
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
|
rs2486759660
|
|
|
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
|
rs2486748136
|
|
|
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
|
rs867538635
|
|
|
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
|
rs557897612
|
|
|
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
|
rs775820344
|
|
|
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
|
rs767675893
|
|
|
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
|
rs1475325112
|
|
|
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
|
rs1308465205
|
|
|
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
|
rs2487607046
|
|
|
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
|
rs201370791
|
|
|
NM_000037.4(ANK1):c.711+3A>C
|
rs1039324463
|
|
|
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
|
rs1829870249
|
|
|
NM_000037.4(ANK1):c.761T>C (p.Met254Thr)
|
rs2486967018
|
|
|
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)
|
rs2486966589
|
|
|
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
|
rs2486944515
|
|
|
NM_000038.6(APC):c.1091A>G (p.Asp364Gly)
|
rs1762830966
|
|
|
NM_000038.6(APC):c.1240C>A (p.Arg414Ser)
|
rs137854567
|
|
|
NM_000038.6(APC):c.1440A>C (p.Gln480His)
|
rs863224537
|
|
|
NM_000038.6(APC):c.1455G>A (p.Met485Ile)
|
rs747739964
|
|
|
NM_000038.6(APC):c.2293G>A (p.Asp765Asn)
|
rs2149865563
|
|
|
NM_000038.6(APC):c.2356C>G (p.Arg786Gly)
|
rs1165139414
|
|
|
NM_000038.6(APC):c.2374A>C (p.Lys792Gln)
|
rs1161062254
|
|
|
NM_000038.6(APC):c.2737C>T (p.His913Tyr)
|
rs1329998234
|
|
|
NM_000038.6(APC):c.53T>A (p.Met18Lys)
|
rs200960071
|
|
|
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys)
|
rs759307079
|
|
|
NM_000038.6(APC):c.7217A>T (p.Asn2406Ile)
|
rs1766416622
|
|
|
NM_000038.6(APC):c.7889T>C (p.Val2630Ala)
|
rs876660453
|
|
|
NM_000038.6(APC):c.841A>C (p.Thr281Pro)
|
rs769727966
|
|
|
NM_000041.4(APOE):c.480_488del (p.159LRK[1])
|
rs2513541603
|
|
|
NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)
|
rs2495098500
|
|
|
NM_000043.6(FAS):c.466G>A (p.Glu156Lys)
|
rs2495153657
|
|
|
NM_000044.6(AR):c.2334G>T (p.Lys778Asn)
|
rs2076137260
|
|
|
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
|
rs765142941
|
|
|
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
|
rs749593643
|
|
|
NM_000046.5(ARSB):c.1143-22011C>A
|
rs1329743428
|
|
|
NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)
|
rs1554032113
|
|
|
NM_000046.5(ARSB):c.440A>C (p.His147Pro)
|
rs1554088030
|
|
|
NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu)
|
rs752671202
|
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
|
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)
|
rs1554079333
|
|
|
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)
|
rs772017949
|
|
|
NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)
|
rs2518346605
|
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
|
NM_000049.4(ASPA):c.405T>A (p.Phe135Leu)
|
rs2543619961
|
|
|
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)
|
rs780097986
|
|
|
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del)
|
rs1555075763
|
|
|
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
|
rs2135035580
|
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
|
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val)
|
rs876659667
|
|
|
NM_000051.4(ATM):c.365A>G (p.Asn122Ser)
|
rs1060501596
|
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
|
NM_000051.4(ATM):c.808A>G (p.Arg270Gly)
|
rs2135241589
|
|
|
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
|
rs794728018
|
|
|
NM_000051.4(ATM):c.927A>T (p.Arg309Ser)
|
rs935834518
|
|
|
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
|
rs782283944
|
|
|
NM_000052.7(ATP7A):c.1352T>C (p.Leu451Ser)
|
rs2522314154
|
|
|
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)
|
rs781834607
|
|
|
NM_000052.7(ATP7A):c.2263A>G (p.Thr755Ala)
|
rs2522354656
|
|
|
NM_000052.7(ATP7A):c.3112-3C>T
|
rs1557237044
|
|
|
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
|
rs2522292530
|
|
|
NM_000053.4(ATP7B):c.2128_2133del (p.Gly710_Gly711del)
|
rs776840533
|
|
|
NM_000053.4(ATP7B):c.2327T>C (p.Leu776Pro)
|
rs2547714655
|
|
|
NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp)
|
rs1265904666
|
|
|
NM_000053.4(ATP7B):c.3692C>T (p.Ala1231Val)
|
rs1287521874
|
|
|
NM_000054.7(AVPR2):c.943A>T (p.Ser315Cys)
|
rs2521161647
|
|
|
NM_000057.4(BLM):c.1088C>T (p.Ala363Val)
|
rs1567040460
|
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
|
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
|
rs1596250300
|
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
|
NM_000057.4(BLM):c.598A>G (p.Thr200Ala)
|
rs1895627174
|
|
|
NM_000059.4(BRCA2):c.2024C>T (p.Thr675Ile)
|
rs80358484
|
|
|
NM_000059.4(BRCA2):c.2057T>C (p.Leu686Pro)
|
rs2137482918
|
|
|
NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)
|
rs80359362
|
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
|
NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser)
|
rs1555283309
|
|
|
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala)
|
rs786202836
|
|
|
NM_000059.4(BRCA2):c.6083A>T (p.Glu2028Val)
|
rs1555284531
|
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
|
NM_000059.4(BRCA2):c.7334G>A (p.Ser2445Asn)
|
rs2072682728
|
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
|
NM_000059.4(BRCA2):c.8568G>C (p.Glu2856Asp)
|
rs878853610
|
|
|
NM_000059.4(BRCA2):c.8696A>G (p.Gln2899Arg)
|
rs2072875390
|
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
|
NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys)
|
rs80359199
|
|
|
NM_000059.4(BRCA2):c.9409A>T (p.Thr3137Ser)
|
rs746036918
|
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
|
NM_000066.4(C8B):c.659C>A (p.Thr220Lys)
|
rs374321085
|
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
|
NM_000069.3(CACNA1S):c.2294A>G (p.Gln765Arg)
|
rs2464539485
|
|
|
NM_000069.3(CACNA1S):c.2954T>C (p.Leu985Pro)
|
rs1661069620
|
|
|
NM_000069.3(CACNA1S):c.355C>A (p.Arg119Ser)
|
rs1276004803
|
|
|
NM_000069.3(CACNA1S):c.3585del (p.Ile1195fs)
|
rs1660924300
|
|
|
NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu)
|
rs774256022
|
|
|
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)
|
rs761214441
|
|
|
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)
|
rs777977731
|
|
|
NM_000069.3(CACNA1S):c.947C>T (p.Thr316Ile)
|
rs1339416724
|
|
|
NM_000070.3(CAPN3):c.1003G>T (p.Ala335Ser)
|
rs779526097
|
|
|
NM_000070.3(CAPN3):c.100G>C (p.Ala34Pro)
|
rs772534302
|
|
|
NM_000070.3(CAPN3):c.1088T>A (p.Val363Glu)
|
rs1595828665
|
|
|
NM_000070.3(CAPN3):c.1099delinsAACAAGAACCGTT (p.Gly367delinsAsnLysAsnArgCys)
|
rs2548267456
|
|
|
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)
|
rs1595834751
|
|
|
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
|
rs2548224782
|
|
|
NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe)
|
rs2548279369
|
|
|
NM_000070.3(CAPN3):c.1675T>C (p.Ser559Pro)
|
rs1595838688
|
|
|
NM_000070.3(CAPN3):c.169A>G (p.Lys57Glu)
|
rs778667728
|
|
|
NM_000070.3(CAPN3):c.1745+4_1745+7del
|
rs794727082
|
|
|
NM_000070.3(CAPN3):c.1782+3G>A
|
rs2548281176
|
|
|
NM_000070.3(CAPN3):c.1814T>G (p.Val605Gly)
|
rs2548287756
|
|
|
NM_000070.3(CAPN3):c.1844T>A (p.Leu615Gln)
|
rs2548287854
|
|
|
NM_000070.3(CAPN3):c.1867G>A (p.Glu623Lys)
|
rs777976758
|
|
|
NM_000070.3(CAPN3):c.1881A>G (p.Lys627=)
|
rs2548287968
|
|
|
NM_000070.3(CAPN3):c.1927A>C (p.Ser643Arg)
|
rs2054128501
|
|
|
NM_000070.3(CAPN3):c.1942A>G (p.Ser648Gly)
|
rs2548290134
|
|
|
NM_000070.3(CAPN3):c.2042T>C (p.Val681Ala)
|
rs750373128
|
|
|
NM_000070.3(CAPN3):c.2099T>A (p.Met700Lys)
|
rs762776236
|
|
|
NM_000070.3(CAPN3):c.2156A>C (p.His719Pro)
|
rs1260414145
|
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
|
NM_000070.3(CAPN3):c.2264G>A (p.Gly755Glu)
|
rs2054200105
|
|
|
NM_000070.3(CAPN3):c.2293_2294delinsGA (p.Ile765Asp)
|
rs1555423195
|
|
|
NM_000070.3(CAPN3):c.2300C>T (p.Thr767Ile)
|
rs2548294388
|
|
|
NM_000070.3(CAPN3):c.2384C>A (p.Ala795Asp)
|
rs762967335
|
|
|
NM_000070.3(CAPN3):c.238T>G (p.Phe80Val)
|
rs2548225037
|
|
|
NM_000070.3(CAPN3):c.349A>G (p.Asn117Asp)
|
rs1011699008
|
|
|
NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro)
|
rs1555420309
|
|
|
NM_000070.3(CAPN3):c.406G>C (p.Ala136Pro)
|
rs2548255722
|
|
|
NM_000070.3(CAPN3):c.440G>T (p.Arg147Leu)
|
rs139671324
|
|
|
NM_000070.3(CAPN3):c.468C>T (p.Ile156=)
|
rs143942248
|
|
|
NM_000070.3(CAPN3):c.476A>G (p.Tyr159Cys)
|
rs886043025
|
|
|
NM_000070.3(CAPN3):c.526G>A (p.Val176Met)
|
rs774114705
|
|
|
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser)
|
rs148855999
|
|
|
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)
|
rs768426565
|
|
|
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu)
|
rs768426565
|
|
|
NM_000070.3(CAPN3):c.610C>G (p.Leu204Val)
|
rs2548258132
|
|
|
NM_000070.3(CAPN3):c.620A>C (p.Lys207Thr)
|
rs886043108
|
|
|
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro)
|
rs1555420621
|
|
|
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)
|
rs886042440
|
|
|
NM_000070.3(CAPN3):c.815T>C (p.Met272Thr)
|
rs2548262054
|
|
|
NM_000070.3(CAPN3):c.859A>G (p.Ile287Val)
|
rs1595823793
|
|
|
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)
|
rs886042297
|
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
|
NM_000074.3(CD40LG):c.762G>C (p.Thr254=)
|
rs371247650
|
|
|
NM_000077.5(CDKN2A):c.64C>T (p.Arg22Trp)
|
rs374921006
|
|
|
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn)
|
rs1291588996
|
|
|
NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)
|
rs1683769492
|
|
|
NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser)
|
rs567683036
|
|
|
NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)
|
rs2468899516
|
|
|
NM_000079.4(CHRNA1):c.319C>A (p.Arg107Ser)
|
rs140268343
|
|
|
NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu)
|
rs202221890
|
|
|
NM_000079.4(CHRNA1):c.710A>G (p.Asn237Ser)
|
rs1558911753
|
|
|
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)
|
rs483353046
|
|
|
NM_000079.4(CHRNA1):c.850A>C (p.Ile284Leu)
|
rs2468888931
|
|
|
NM_000080.4(CHRNE):c.1019C>A (p.Pro340Gln)
|
rs139922367
|
|
|
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu)
|
rs139922367
|
|
|
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)
|
rs752226476
|
|
|
NM_000080.4(CHRNE):c.1087C>T (p.Pro363Ser)
|
rs1368626760
|
|
|
NM_000080.4(CHRNE):c.1172_1173delinsTT (p.Ser391Ile)
|
rs1555546288
|
|
|
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)
|
rs146921234
|
|
|
NM_000080.4(CHRNE):c.1250C>T (p.Ala417Val)
|
rs768258598
|
|
|
NM_000080.4(CHRNE):c.1298G>A (p.Ser433Asn)
|
rs2507538636
|
|
|
NM_000080.4(CHRNE):c.1346G>A (p.Arg449His)
|
rs2509299805
|
|
|
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)
|
rs139171143
|
|
|
NM_000080.4(CHRNE):c.1442G>T (p.Arg481Leu)
|
rs528584911
|
|
|
NM_000080.4(CHRNE):c.244G>A (p.Asp82Asn)
|
rs2507561743
|
|
|
NM_000080.4(CHRNE):c.31C>T (p.Leu11Phe)
|
rs1245614875
|
|
|
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys)
|
rs763181728
|
|
|
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)
|
rs121909516
|
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
|
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg)
|
rs148370803
|
|
|
NM_000080.4(CHRNE):c.55G>T (p.Val19Leu)
|
rs1167646186
|
|
|
NM_000080.4(CHRNE):c.608G>C (p.Gly203Ala)
|
rs2507555270
|
|
|
NM_000080.4(CHRNE):c.617C>T (p.Ala206Val)
|
rs2151097484
|
|
|
NM_000080.4(CHRNE):c.650A>G (p.His217Arg)
|
rs755943507
|
|
|
NM_000080.4(CHRNE):c.667G>A (p.Asp223Asn)
|
rs1969970796
|
|
|
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)
|
rs201434993
|
|
|
NM_000080.4(CHRNE):c.73C>G (p.Leu25Val)
|
rs1970032941
|
|
|
NM_000080.4(CHRNE):c.77G>A (p.Arg26His)
|
rs188661284
|
|
|
NM_000080.4(CHRNE):c.869_877del (p.Ile290_Gln292del)
|
rs2507553096
|
|
|
NM_000080.4(CHRNE):c.870T>C (p.Ile290=)
|
rs775157123
|
|
|
NM_000080.4(CHRNE):c.904C>T (p.Pro302Ser)
|
rs979787967
|
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
|
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg)
|
rs1356556214
|
|
|
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
|
rs1221940973
|
|
|
NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)
|
rs777772931
|
|
|
NM_000081.4(LYST):c.1746A>G (p.Ile582Met)
|
rs2527110729
|
|
|
NM_000081.4(LYST):c.1880A>C (p.Glu627Ala)
|
rs780236687
|
|
|
NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)
|
rs1353179600
|
|
|
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
|
rs755119451
|
|
|
NM_000081.4(LYST):c.2642C>T (p.Ala881Val)
|
rs2527082366
|
|
|
NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)
|
rs2527080693
|
|
|
NM_000081.4(LYST):c.285T>C (p.Asp95=)
|
rs747965676
|
|
|
NM_000081.4(LYST):c.285T>G (p.Asp95Glu)
|
rs747965676
|
|
|
NM_000081.4(LYST):c.310A>G (p.Ile104Val)
|
rs2102892270
|
|
|
NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)
|
rs1365257848
|
|
|
NM_000081.4(LYST):c.345A>G (p.Gln115=)
|
rs2527133215
|
|
|
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
|
rs751798406
|
|
|
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del)
|
rs770679237
|
|
|
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
|
rs74641549
|
|
|
NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)
|
rs767996620
|
|
|
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
|
rs773229263
|
|
|
NM_000081.4(LYST):c.4544-3T>C
|
rs1030286929
|
|
|
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
|
rs369847918
|
|
|
NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)
|
rs2527994032
|
|
|
NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)
|
rs2527971877
|
|
|
NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)
|
rs142093128
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
rs374351038
|
|
|
NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)
|
rs768532041
|
|
|
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
|
rs755805102
|
|
|
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
|
rs986570709
|
|
|
NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)
|
rs1039368735
|
|
|
NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)
|
rs2527806535
|
|
|
NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)
|
rs1666544547
|
|
|
NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)
|
rs2527559601
|
|
|
NM_000081.4(LYST):c.9233G>A (p.Arg3078His)
|
rs764697537
|
|
|
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
|
rs756381548
|
|
|
NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)
|
rs2527364919
|
|
|
NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)
|
rs2527364900
|
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
|
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
|
rs1031770273
|
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
|
NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser)
|
rs2487064995
|
|
|
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
|
rs1401396816
|
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
|
NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr)
|
rs2487089780
|
|
|
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn)
|
rs1803111177
|
|
|
NM_000083.3(CLCN1):c.1930+3C>G
|
rs1257835431
|
|
|
NM_000083.3(CLCN1):c.2062G>C (p.Gly688Arg)
|
rs1563087092
|
|
|
NM_000083.3(CLCN1):c.2492A>G (p.Gln831Arg)
|
rs1439192912
|
|
|
NM_000083.3(CLCN1):c.2555C>T (p.Thr852Ile)
|
rs2485444877
|
|
|
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr)
|
rs1448219970
|
|
|
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser)
|
rs1168501752
|
|
|
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala)
|
rs574104250
|
|
|
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu)
|
rs1803422217
|
|
|
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
|
rs2485449460
|
|
|
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)
|
rs1204927357
|
|
|
NM_000083.3(CLCN1):c.364G>C (p.Val122Leu)
|
rs528823552
|
|
|
NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr)
|
rs2487029831
|
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
|
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp)
|
rs574259784
|
|
|
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
|
rs2487033838
|
|
|
NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly)
|
rs761511512
|
|
|
NM_000083.3(CLCN1):c.638T>G (p.Val213Gly)
|
rs1586486042
|
|
|
NM_000083.3(CLCN1):c.662C>A (p.Ala221Glu)
|
rs748415883
|
|
|
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)
|
rs776173406
|
|
|
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile)
|
rs754934082
|
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
|
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val)
|
rs1563075892
|
|
|
NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe)
|
rs2487056994
|
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
|
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)
|
rs563598815
|
|
|
NM_000088.4(COL1A1):c.2393C>T (p.Ala798Val)
|
rs1469391204
|
|
|
NM_000088.4(COL1A1):c.346G>C (p.Asp116His)
|
rs2509255265
|
|
|
NM_000088.4(COL1A1):c.3815-3C>T
|
rs2509161735
|
|
|
NM_000088.4(COL1A1):c.3827T>G (p.Ile1276Ser)
|
rs1207643613
|
|
|
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
|
rs2484725189
|
|
|
NM_000089.4(COL1A2):c.2187+5G>A
|
rs2484725506
|
|
|
NM_000089.4(COL1A2):c.2841G>T (p.Glu947Asp)
|
rs1562907108
|
|
|
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr)
|
rs1554398544
|
|
|
NM_000089.4(COL1A2):c.449C>T (p.Pro150Leu)
|
rs2484700612
|
|
|
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro)
|
rs373858715
|
|
|
NM_000090.4(COL3A1):c.1940G>A (p.Gly647Asp)
|
rs1487398394
|
|
|
NM_000090.4(COL3A1):c.4180G>C (p.Gly1394Arg)
|
rs779670456
|
|
|
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
|
rs2469172850
|
|
|
NM_000090.4(COL3A1):c.507C>G (p.Leu169=)
|
rs142437505
|
|
|
NM_000091.5(COL4A3):c.161C>T (p.Pro54Leu)
|
rs2469463339
|
|
|
NM_000091.5(COL4A3):c.2618G>A (p.Arg873Lys)
|
rs2072047886
|
|
|
NM_000091.5(COL4A3):c.3331C>T (p.Leu1111Phe)
|
rs758795519
|
|
|
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe)
|
rs374680846
|
|
|
NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)
|
rs1452546964
|
|
|
NM_000093.5(COL5A1):c.*1786C>G
|
rs1266809394
|
|
|
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu)
|
rs565329216
|
|
|
NM_000093.5(COL5A1):c.1671G>A (p.Leu557=)
|
rs2490595032
|
|
|
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup)
|
rs752240390
|
|
|
NM_000093.5(COL5A1):c.4864A>C (p.Ile1622Leu)
|
rs1189220718
|
|
|
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
|
rs558556902
|
|
|
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn)
|
rs886038237
|
|
|
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe)
|
rs1383699147
|
|
|
NM_000094.4(COL7A1):c.1242C>A (p.Asp414Glu)
|
rs373138319
|
|
|
NM_000095.3(COMP):c.452G>A (p.Cys151Tyr)
|
rs2055192723
|
|
|
NM_000095.3(COMP):c.983G>A (p.Cys328Tyr)
|
rs2145902336
|
|
|
NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr)
|
rs1490239014
|
|
|
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)
|
rs1645443275
|
|
|
NM_000098.3(CPT2):c.284T>C (p.Leu95Pro)
|
rs2525570206
|
|
|
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)
|
rs141505320
|
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
|
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
|
rs796051942
|
|
|
NM_000098.3(CPT2):c.878G>T (p.Ser293Ile)
|
rs774859940
|
|
|
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
|
rs2493243189
|
|
|
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
|
rs778579492
|
|
|
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
|
rs2032249701
|
|
|
NM_000110.4(DPYD):c.328T>C (p.Tyr110His)
|
rs1283205838
|
|
|
NM_000112.4(SLC26A2):c.1171A>G (p.Ile391Val)
|
rs759803722
|
|
|
NM_000112.4(SLC26A2):c.31G>A (p.Val11Ile)
|
rs770366919
|
|
|
NM_000112.4(SLC26A2):c.835C>A (p.Arg279=)
|
rs104893915
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
|
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
|
rs2522950812
|
|
|
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
|
rs2067884357
|
|
|
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
|
rs2522790343
|
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
|
NM_000117.3(EMD):c.82+3A>G
|
rs2522787173
|
|
|
NM_000122.2(ERCC3):c.777AGA[6] (p.Glu264_Thr265insGlu)
|
rs761456808
|
|
|
NM_000123.4(ERCC5):c.1337T>C (p.Leu446Pro)
|
rs2501568531
|
|
|
NM_000124.4(ERCC6):c.1700G>C (p.Gly567Ala)
|
rs1315875811
|
|
|
NM_000124.4(ERCC6):c.2179G>T (p.Ala727Ser)
|
rs2495996186
|
|
|
NM_000124.4(ERCC6):c.2645A>C (p.Tyr882Ser)
|
rs116431130
|
|
|
NM_000124.4(ERCC6):c.2881A>T (p.Arg961Trp)
|
rs1564730179
|
|
|
NM_000124.4(ERCC6):c.2921A>G (p.His974Arg)
|
rs199581226
|
|
|
NM_000124.4(ERCC6):c.3238G>A (p.Val1080Ile)
|
rs2495972926
|
|
|
NM_000124.4(ERCC6):c.3782G>A (p.Gly1261Asp)
|
rs2495950142
|
|
|
NM_000124.4(ERCC6):c.809_810delinsAT (p.Gly270Asp)
|
rs1564442704
|
|
|
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)
|
rs766256094
|
|
|
NM_000128.4(F11):c.1469T>C (p.Val490Ala)
|
rs2477407508
|
|
|
NM_000130.5(F5):c.3679G>A (p.Gly1227Ser)
|
rs549903844
|
|
|
NM_000130.5(F5):c.3995T>C (p.Leu1332Pro)
|
rs1241060030
|
|
|
NM_000130.5(F5):c.6357_6359del (p.Asn2119del)
|
rs2526329717
|
|
|
NM_000132.4(F8):c.1181C>A (p.Ala394Asp)
|
rs2523951203
|
|
|
NM_000132.4(F8):c.1264G>C (p.Asp422His)
|
rs370737113
|
|
|
NM_000132.4(F8):c.274G>A (p.Gly92Ser)
|
rs1304431117
|
|
|
NM_000132.4(F8):c.3361T>G (p.Leu1121Val)
|
rs781814842
|
|
|
NM_000132.4(F8):c.3409C>A (p.Leu1137Met)
|
rs2523912653
|
|
|
NM_000132.4(F8):c.5562G>T (p.Trp1854Cys)
|
rs1340013366
|
|
|
NM_000132.4(F8):c.5703C>A (p.Ile1901=)
|
rs782721473
|
|
|
NM_000133.4(F9):c.262T>C (p.Trp88Arg)
|
rs2520748004
|
|
|
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)
|
rs752092543
|
|
|
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
|
rs757157897
|
|
|
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
|
rs1555549412
|
|
|
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
|
rs749778768
|
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
rs372691338
|
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
|
NM_000137.4(FAH):c.485G>A (p.Arg162His)
|
rs766178166
|
|
|
NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
|
rs753394178
|
|
|
NM_000137.4(FAH):c.991A>G (p.Thr331Ala)
|
rs1595897330
|
|
|
NM_000138.5(FBN1):c.1128G>T (p.Met376Ile)
|
rs2505628707
|
|
|
NM_000138.5(FBN1):c.1526G>T (p.Gly509Val)
|
rs2141327790
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
|
NM_000138.5(FBN1):c.2082A>T (p.Glu694Asp)
|
rs773288488
|
|
|
NM_000138.5(FBN1):c.2420A>T (p.Asp807Val)
|
rs2505572164
|
|
|
NM_000138.5(FBN1):c.2492A>T (p.Glu831Val)
|
rs2505571919
|
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
|
NM_000138.5(FBN1):c.346+3A>G
|
rs777333834
|
|
|
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)
|
rs1555398377
|
|
|
NM_000138.5(FBN1):c.3838+42C>T
|
rs954525312
|
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
|
NM_000138.5(FBN1):c.5466C>G (p.Ala1822=)
|
rs947248042
|
|
|
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)
|
rs78970689
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
|
NM_000138.5(FBN1):c.5692G>T (p.Asp1898Tyr)
|
rs2505458784
|
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
|
NM_000138.5(FBN1):c.6706T>C (p.Tyr2236His)
|
rs2505424841
|
|
|
NM_000138.5(FBN1):c.6740-10T>G
|
rs1456822662
|
|
|
NM_000138.5(FBN1):c.6800A>C (p.Asn2267Thr)
|
rs1057518812
|
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
rs2505655210
|
|
|
NM_000141.5(FGFR2):c.122A>G (p.Lys41Arg)
|
rs2135124493
|
|
|
NM_000142.5(FGFR3):c.1253C>T (p.Pro418Leu)
|
rs781361431
|
|
|
NM_000142.5(FGFR3):c.445+2_445+5del
|
rs756854039
|
|
|
NM_000142.5(FGFR3):c.754C>T (p.Arg252Trp)
|
rs2108783372
|
|
|
NM_000142.5(FGFR3):c.914A>G (p.Tyr305Cys)
|
rs2108785010
|
|
|
NM_000142.5(FGFR3):c.957G>C (p.Lys319Asn)
|
rs1461585175
|
|
|
NM_000143.4(FH):c.1156C>A (p.Gln386Lys)
|
rs2147914963
|
|
|
NM_000143.4(FH):c.251T>C (p.Val84Ala)
|
rs878853692
|
|
|
NM_000143.4(FH):c.535G>A (p.Asp179Asn)
|
rs1553341588
|
|
|
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup)
|
rs756742678
|
|
|
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
|
rs145749644
|
|
|
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)
|
rs764920787
|
|
|
NM_000151.4(G6PC1):c.338C>T (p.Pro113Leu)
|
rs2544208963
|
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
rs772371937
|
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
|
NM_000152.5(GAA):c.1076-10T>A
|
rs2039148366
|
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
|
NM_000152.5(GAA):c.1109G>A (p.Gly370Asp)
|
rs1555600069
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
|
NM_000152.5(GAA):c.1304G>T (p.Gly435Val)
|
rs1567830961
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1379A>G (p.Glu460Gly)
|
rs2510370318
|
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
rs144155165
|
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
|
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
|
rs772883420
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
rs1555600755
|
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
rs1156383084
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
|
NM_000152.5(GAA):c.1571A>C (p.Asn524Thr)
|
rs1379211438
|
|
|
NM_000152.5(GAA):c.1637-40G>A
|
rs764042017
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
|
NM_000152.5(GAA):c.1643T>G (p.Val548Gly)
|
rs754686630
|
|
|
NM_000152.5(GAA):c.1706A>G (p.Tyr569Cys)
|
rs2510378825
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
|
NM_000152.5(GAA):c.1931C>A (p.Ala644Asp)
|
rs374496405
|
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
rs1265892085
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
|
NM_000152.5(GAA):c.1960T>G (p.Ser654Ala)
|
rs2510383864
|
|
|
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
|
rs2039279293
|
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
|
NM_000152.5(GAA):c.2020C>T (p.His674Tyr)
|
rs1555601652
|
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
|
NM_000152.5(GAA):c.2095C>T (p.Leu699Phe)
|
rs1233586977
|
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2189+4A>G
|
rs2510386944
|
|
|
NM_000152.5(GAA):c.2200G>A (p.Asp734Asn)
|
rs2510396036
|
|
|
NM_000152.5(GAA):c.2234T>G (p.Leu745Arg)
|
rs2510396260
|
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
|
NM_000152.5(GAA):c.2557G>C (p.Ala853Pro)
|
rs2510402655
|
|
|
NM_000152.5(GAA):c.2563G>A (p.Gly855Arg)
|
rs1341804179
|
|
|
NM_000152.5(GAA):c.257C>A (p.Pro86His)
|
rs2229222
|
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
rs2510404462
|
|
|
NM_000152.5(GAA):c.272A>G (p.Asp91Gly)
|
rs2510345676
|
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
rs1242967806
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
rs2510404876
|
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
|
NM_000152.5(GAA):c.2848A>T (p.Ser950Cys)
|
rs2510407313
|
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.389C>G (p.Pro130Arg)
|
rs747943736
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
|
NM_000152.5(GAA):c.506T>C (p.Leu169Pro)
|
rs2510347438
|
|
|
NM_000152.5(GAA):c.522G>T (p.Glu174Asp)
|
rs771765461
|
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
|
NM_000152.5(GAA):c.556C>T (p.Pro186Ser)
|
rs2510350225
|
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
rs2039069093
|
|
|
NM_000152.5(GAA):c.611C>T (p.Ala204Val)
|
rs2510350484
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
rs766931184
|
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
|
NM_000152.5(GAA):c.713C>T (p.Pro238Leu)
|
rs2510357409
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
|
NM_000152.5(GAA):c.748A>G (p.Thr250Ala)
|
rs2039117417
|
|
|
NM_000152.5(GAA):c.804G>C (p.Met268Ile)
|
rs1185610552
|
|
|
NM_000152.5(GAA):c.806T>C (p.Leu269Pro)
|
rs2039120957
|
|
|
NM_000152.5(GAA):c.829A>G (p.Thr277Ala)
|
rs2039122225
|
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
rs2510359237
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
|
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
|
rs2503430860
|
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
|
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys)
|
rs2139961409
|
|
|
NM_000153.4(GALC):c.1459C>T (p.Pro487Ser)
|
rs2503362540
|
|
|
NM_000153.4(GALC):c.147_148delinsAA (p.Asp49_Gly50delinsGluArg)
|
rs2503548016
|
|
|
NM_000153.4(GALC):c.16C>T (p.Leu6Phe)
|
rs753907232
|
|
|
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs)
|
rs1884764754
|
|
|
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)
|
rs1566967736
|
|
|
NM_000153.4(GALC):c.194G>C (p.Gly65Ala)
|
rs1555384318
|
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
|
NM_000153.4(GALC):c.1999G>A (p.Gly667Arg)
|
rs2503316256
|
|
|
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)
|
rs2139925505
|
|
|
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)
|
rs754507781
|
|
|
NM_000153.4(GALC):c.2037dup (p.Leu680fs)
|
rs2139925538
|
|
|
NM_000153.4(GALC):c.328G>A (p.Asp110Asn)
|
rs2503526253
|
|
|
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)
|
rs1886979623
|
|
|
NM_000153.4(GALC):c.606T>G (p.Asn202Lys)
|
rs757920477
|
|
|
NM_000153.4(GALC):c.621+6T>C
|
rs926861714
|
|
|
NM_000155.4(GALT):c.748C>T (p.Pro250Ser)
|
rs111033759
|
|
|
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
|
rs572944977
|
|
|
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
|
rs1736323141
|
|
|
NM_000157.4(GBA1):c.1171G>A (p.Val391Met)
|
rs398123527
|
|
|
NM_000157.4(GBA1):c.1261A>C (p.Asn421His)
|
rs2524820355
|
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
|
NM_000157.4(GBA1):c.1603C>A (p.Arg535Ser)
|
rs747506979
|
|
|
NM_000157.4(GBA1):c.479T>C (p.Val160Ala)
|
rs2524839442
|
|
|
NM_000157.4(GBA1):c.608C>A (p.Ala203Asp)
|
rs1671874524
|
|
|
NM_000157.4(GBA1):c.644C>T (p.Ala215Val)
|
rs2148076852
|
|
|
NM_000157.4(GBA1):c.686C>A (p.Ala229Glu)
|
rs75636769
|
|
|
NM_000157.4(GBA1):c.686C>T (p.Ala229Val)
|
rs75636769
|
|
|
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)
|
rs121908300
|
|
|
NM_000157.4(GBA1):c.802G>A (p.Ala268Thr)
|
rs2524831721
|
|
|
NM_000157.4(GBA1):c.812C>A (p.Ala271Asp)
|
rs2524831669
|
|
|
NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)
|
rs2148075570
|
|
|
NM_000157.4(GBA1):c.818A>G (p.Asn273Ser)
|
rs2524831655
|
|
|
NM_000157.4(GBA1):c.827C>T (p.Ser276Phe)
|
rs755512507
|
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
|
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)
|
rs765633380
|
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
|
NM_000158.4(GBE1):c.404T>G (p.Leu135Arg)
|
rs2471864330
|
|
|
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)
|
rs1417389111
|
|
|
NM_000160.5(GCGR):c.701G>A (p.Gly234Asp)
|
rs886976203
|
|
|
NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)
|
rs764013857
|
|
|
NM_000162.5(GCK):c.1213A>G (p.Thr405Ala)
|
rs2484496141
|
|
|
NM_000162.5(GCK):c.370G>C (p.Asp124His)
|
rs759072800
|
|
|
NM_000162.5(GCK):c.802G>A (p.Glu268Lys)
|
rs1554335111
|
|
|
NM_000162.5(GCK):c.852C>G (p.Pro284=)
|
rs145323719
|
|
|
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
rs1602349322
|
|
|
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
rs1602348537
|
|
|
NM_000168.6(GLI3):c.1097_1099del (p.Arg366del)
|
rs1356280150
|
|
|
NM_000168.6(GLI3):c.1848G>C (p.Lys616Asn)
|
rs2484419607
|
|
|
NM_000168.6(GLI3):c.1946G>A (p.Arg649Gln)
|
rs1233442338
|
|
|
NM_000168.6(GLI3):c.2381A>G (p.Asn794Ser)
|
rs1046503721
|
|
|
NM_000168.6(GLI3):c.2867G>A (p.Arg956His)
|
rs774291419
|
|
|
NM_000168.6(GLI3):c.3386T>C (p.Phe1129Ser)
|
rs2484372982
|
|
|
NM_000168.6(GLI3):c.426T>A (p.His142Gln)
|
rs1255839790
|
|
|
NM_000168.6(GLI3):c.4411G>A (p.Gly1471Arg)
|
rs2484363614
|
|
|
NM_000168.6(GLI3):c.632C>T (p.Pro211Leu)
|
rs1784291735
|
|
|
NM_000169.2(GLA):c.1286_*7del
|
rs2520847170
|
|
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
|
|
NM_000169.3(GLA):c.112A>G (p.Arg38Gly)
|
rs730880446
|
|
|
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)
|
rs398123200
|
|
|
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)
|
rs879254061
|
|
|
NM_000169.3(GLA):c.141G>C (p.Trp47Cys)
|
rs1555987101
|
|
|
NM_000169.3(GLA):c.151A>G (p.Met51Val)
|
rs1569306069
|
|
|
NM_000169.3(GLA):c.197A>G (p.Glu66Gly)
|
rs869312264
|
|
|
NM_000169.3(GLA):c.208A>G (p.Met70Val)
|
rs1555986330
|
|
|
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.368A>G (p.Tyr123Cys)
|
rs2520911807
|
|
|
NM_000169.3(GLA):c.369+5G>T
|
rs398123209
|
|
|
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
|
rs2520897997
|
|
|
NM_000169.3(GLA):c.409G>T (p.Val137Phe)
|
rs1928326653
|
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
|
NM_000169.3(GLA):c.682A>C (p.Asn228His)
|
rs2520871541
|
|
|
NM_000169.3(GLA):c.694A>G (p.Ile232Val)
|
rs2520871330
|
|
|
NM_000169.3(GLA):c.695T>G (p.Ile232Ser)
|
rs797044749
|
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
|
NM_000169.3(GLA):c.806T>A (p.Val269Glu)
|
rs28935488
|
|
|
NM_000169.3(GLA):c.808A>T (p.Ile270Phe)
|
rs1569303099
|
|
|
NM_000169.3(GLA):c.820G>C (p.Gly274Arg)
|
rs2147472458
|
|
|
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)
|
rs1555985004
|
|
|
NM_000169.3(GLA):c.851T>A (p.Met284Lys)
|
rs1928171557
|
|
|
NM_000169.3(GLA):c.85G>T (p.Ala29Ser)
|
rs142449183
|
|
|
NM_000169.3(GLA):c.868A>G (p.Met290Val)
|
rs375538532
|
|
|
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)
|
rs1057518537
|
|
|
NM_000170.3(GLDC):c.1493C>T (p.Ala498Val)
|
rs2489080292
|
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
|
NM_000170.3(GLDC):c.941T>C (p.Leu314Pro)
|
rs2489103126
|
|
|
NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser)
|
rs1205202629
|
|
|
NM_000171.4(GLRA1):c.185-3C>T
|
rs1753918154
|
|
|
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
|
rs370893425
|
|
|
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
|
rs1436713572
|
|
|
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
|
rs2513860084
|
|
|
NM_000175.5(GPI):c.885G>T (p.Gln295His)
|
rs2074901638
|
|
|
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
|
rs928767869
|
|
|
NM_000175.5(GPI):c.91G>C (p.Asp31His)
|
rs1349915053
|
|
|
NM_000178.4(GSS):c.1205A>G (p.Glu402Gly)
|
rs2519016841
|
|
|
NM_000178.4(GSS):c.1295_1296del (p.Tyr432fs)
|
rs777065530
|
|
|
NM_000178.4(GSS):c.1340A>G (p.His447Arg)
|
rs2519014725
|
|
|
NM_000178.4(GSS):c.1373A>G (p.Asp458Gly)
|
rs1311370705
|
|
|
NM_000178.4(GSS):c.167T>C (p.Leu56Pro)
|
rs1377322793
|
|
|
NM_000178.4(GSS):c.196T>A (p.Tyr66Asn)
|
rs1343851877
|
|
|
NM_000178.4(GSS):c.407G>T (p.Gly136Val)
|
rs2519032423
|
|
|
NM_000178.4(GSS):c.811A>C (p.Met271Leu)
|
rs1261304268
|
|
|
NM_000179.3(MSH6):c.1415C>G (p.Ser472Cys)
|
rs864622741
|
|
|
NM_000179.3(MSH6):c.1613A>T (p.Tyr538Phe)
|
rs728619
|
|
|
NM_000179.3(MSH6):c.1658C>G (p.Thr553Ser)
|
rs1553413038
|
|
|
NM_000179.3(MSH6):c.1670G>T (p.Gly557Val)
|
rs1553413050
|
|
|
NM_000179.3(MSH6):c.2581G>T (p.Ala861Ser)
|
rs1669484357
|
|
|
NM_000179.3(MSH6):c.3262T>G (p.Phe1088Val)
|
rs866793892
|
|
|
NM_000179.3(MSH6):c.3971_4001dup (p.Val1336fs)
|
rs1572747863
|
|
|
NM_000179.3(MSH6):c.3976A>C (p.Met1326Leu)
|
rs587779939
|
|
|
NM_000179.3(MSH6):c.4052A>G (p.His1351Arg)
|
rs1325140069
|
|
|
NM_000179.3(MSH6):c.4073dup (p.Glu1359fs)
|
rs2104585660
|
|
|
NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)
|
rs863224830
|
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
|
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu)
|
rs750153057
|
|
|
NM_000180.4(GUCY2D):c.3239G>T (p.Gly1080Val)
|
rs865916918
|
|
|
NM_000181.4(GUSB):c.1046A>G (p.Asn349Ser)
|
rs2484805686
|
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
rs749520560
|
|
|
NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp)
|
rs2484801850
|
|
|
NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr)
|
rs771707097
|
|
|
NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn)
|
rs2484778789
|
|
|
NM_000181.4(GUSB):c.1614G>C (p.Gln538His)
|
rs2484764522
|
|
|
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)
|
rs757015172
|
|
|
NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr)
|
rs1790449347
|
|
|
NM_000181.4(GUSB):c.229A>G (p.Met77Val)
|
rs1583947665
|
|
|
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
|
rs762212333
|
|
|
NM_000181.4(GUSB):c.388G>A (p.Ala130Thr)
|
rs2484845360
|
|
|
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)
|
rs1237078772
|
|
|
NM_000181.4(GUSB):c.430G>T (p.Gly144Trp)
|
rs1562695306
|
|
|
NM_000181.4(GUSB):c.582-3T>G
|
rs2484838806
|
|
|
NM_000181.4(GUSB):c.875T>C (p.Leu292Pro)
|
rs2484813579
|
|
|
NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)
|
rs1271320539
|
|
|
NM_000182.5(HADHA):c.580G>A (p.Val194Met)
|
rs2465591690
|
|
|
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
|
rs2465738774
|
|
|
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
|
rs1323896748
|
|
|
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
|
rs781365948
|
|
|
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)
|
rs1652885970
|
|
|
NM_000188.3(HK1):c.117_119del (p.Ile39del)
|
rs2540244169
|
|
|
NM_000188.3(HK1):c.1231G>A (p.Gly411Ser)
|
rs2540411722
|
|
|
NM_000188.3(HK1):c.1289C>T (p.Thr430Ile)
|
rs562088389
|
|
|
NM_000188.3(HK1):c.1384C>T (p.Arg462Cys)
|
rs2540422125
|
|
|
NM_000188.3(HK1):c.1592T>A (p.Leu531Gln)
|
rs1564561598
|
|
|
NM_000188.3(HK1):c.1634T>A (p.Ile545Asn)
|
rs2540429608
|
|
|
NM_000188.3(HK1):c.1871dup (p.Ala625fs)
|
rs754451671
|
|
|
NM_000188.3(HK1):c.1894G>C (p.Asp632His)
|
rs367984091
|
|
|
NM_000188.3(HK1):c.2041G>A (p.Gly681Ser)
|
rs2540459832
|
|
|
NM_000188.3(HK1):c.2198C>T (p.Ser733Phe)
|
rs2540460543
|
|
|
NM_000188.3(HK1):c.2506G>A (p.Ala836Thr)
|
rs773615425
|
|
|
NM_000188.3(HK1):c.2714C>A (p.Thr905Lys)
|
rs748913554
|
|
|
NM_000188.3(HK1):c.384T>A (p.Asp128Glu)
|
rs928481613
|
|
|
NM_000188.3(HK1):c.875+5G>A
|
rs2540371179
|
|
|
NM_000188.3(HK1):c.892A>T (p.Ser298Cys)
|
rs1839143981
|
|
|
NM_000196.4(HSD11B2):c.536T>C (p.Leu179Pro)
|
rs2508607255
|
|
|
NM_000196.4(HSD11B2):c.586G>A (p.Ala196Thr)
|
rs560632514
|
|
|
NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)
|
rs746865404
|
|
|
NM_000199.5(SGSH):c.38T>C (p.Leu13Pro)
|
rs2510930506
|
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
|
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
|
rs2520902410
|
|
|
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
|
rs2520902336
|
|
|
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
|
rs868934036
|
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
|
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
|
rs782041174
|
|
|
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
|
rs2520901143
|
|
|
NM_000202.8(IDS):c.236C>T (p.Ala79Val)
|
rs368513342
|
|
|
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
|
rs2089452549
|
|
|
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)
|
rs146458524
|
|
|
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
|
rs2153022349
|
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
|
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
|
rs1378699648
|
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
rs747827435
|
|
|
NM_000203.5(IDUA):c.1054T>C (p.Phe352Leu)
|
rs772448566
|
|
|
NM_000203.5(IDUA):c.1080C>A (p.Phe360Leu)
|
rs1715144134
|
|
|
NM_000203.5(IDUA):c.1081G>C (p.Ala361Pro)
|
rs6831280
|
|
|
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu)
|
rs1416427527
|
|
|
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
|
rs2534089715
|
|
|
NM_000203.5(IDUA):c.1103G>A (p.Arg368His)
|
rs781149866
|
|
|
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp)
|
rs1475290359
|
|
|
NM_000203.5(IDUA):c.1121C>T (p.Thr374Ile)
|
rs2534089920
|
|
|
NM_000203.5(IDUA):c.112C>A (p.Arg38Ser)
|
rs950667822
|
|
|
NM_000203.5(IDUA):c.1135G>A (p.Val379Met)
|
rs1271868719
|
|
|
NM_000203.5(IDUA):c.1135G>T (p.Val379Leu)
|
rs1271868719
|
|
|
NM_000203.5(IDUA):c.1140G>C (p.Gln380His)
|
rs1280484403
|
|
|
NM_000203.5(IDUA):c.1147C>G (p.Arg383Gly)
|
rs751396984
|
|
|
NM_000203.5(IDUA):c.1162A>C (p.Thr388Pro)
|
rs2534090235
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
|
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del)
|
rs1168660379
|
|
|
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
|
rs2534092636
|
|
|
NM_000203.5(IDUA):c.1258G>A (p.Val420Ile)
|
rs1029767148
|
|
|
NM_000203.5(IDUA):c.1274A>T (p.His425Leu)
|
rs1294331782
|
|
|
NM_000203.5(IDUA):c.1275C>G (p.His425Gln)
|
rs1338561459
|
|
|
NM_000203.5(IDUA):c.1294G>A (p.Asp432Asn)
|
rs1485492553
|
|
|
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
|
rs1188900288
|
|
|
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
|
rs1188900288
|
|
|
NM_000203.5(IDUA):c.1319T>C (p.Ile440Thr)
|
rs2534093181
|
|
|
NM_000203.5(IDUA):c.1328G>A (p.Ser443Asn)
|
rs753372256
|
|
|
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
|
rs571833399
|
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
rs1434999845
|
|
|
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
|
rs1715189170
|
|
|
NM_000203.5(IDUA):c.1337C>A (p.Thr446Asn)
|
rs1295530132
|
|
|
NM_000203.5(IDUA):c.133C>T (p.Arg45Cys)
|
rs2153015247
|
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
|
NM_000203.5(IDUA):c.1381C>T (p.Arg461Cys)
|
rs1031256595
|
|
|
NM_000203.5(IDUA):c.1382G>A (p.Arg461His)
|
rs2534093752
|
|
|
NM_000203.5(IDUA):c.1412A>G (p.Tyr471Cys)
|
rs1715204964
|
|
|
NM_000203.5(IDUA):c.1434C>A (p.Asn478Lys)
|
rs779159727
|
|
|
NM_000203.5(IDUA):c.1444A>G (p.Ser482Gly)
|
rs776480687
|
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
|
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
|
rs2534095371
|
|
|
NM_000203.5(IDUA):c.1486C>T (p.Pro496Ser)
|
rs2534095408
|
|
|
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)
|
rs374102243
|
|
|
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln)
|
rs769566506
|
|
|
NM_000203.5(IDUA):c.1505G>C (p.Arg502Pro)
|
rs769566506
|
|
|
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
|
rs2534095558
|
|
|
NM_000203.5(IDUA):c.1540_1541insGGCGCGTGGCCGCGG (p.Ala513_Ala514insGlyArgValAlaAla)
|
rs1715235369
|
|
|
NM_000203.5(IDUA):c.1568G>A (p.Arg523His)
|
rs1018687587
|
|
|
NM_000203.5(IDUA):c.157T>C (p.Cys53Arg)
|
rs1713801432
|
|
|
NM_000203.5(IDUA):c.1589T>G (p.Leu530Arg)
|
rs2534097702
|
|
|
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
|
rs2534004148
|
|
|
NM_000203.5(IDUA):c.159-19_160del
|
rs398123255
|
|
|
NM_000203.5(IDUA):c.1613T>G (p.Val538Gly)
|
rs2534097946
|
|
|
NM_000203.5(IDUA):c.1621T>C (p.Cys541Arg)
|
rs2534098043
|
|
|
NM_000203.5(IDUA):c.1643C>T (p.Pro548Leu)
|
rs2153022950
|
|
|
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro)
|
rs771540729
|
|
|
NM_000203.5(IDUA):c.1676T>G (p.Leu559Arg)
|
rs2534099489
|
|
|
NM_000203.5(IDUA):c.1745A>C (p.Glu582Ala)
|
rs2534102302
|
|
|
NM_000203.5(IDUA):c.1809C>A (p.Asn603Lys)
|
rs2153023208
|
|
|
NM_000203.5(IDUA):c.1870G>T (p.Asp624Tyr)
|
rs1715311906
|
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
|
NM_000203.5(IDUA):c.1882C>G (p.Arg628Gly)
|
rs756572099
|
|
|
NM_000203.5(IDUA):c.1883G>T (p.Arg628Leu)
|
rs200448421
|
|
|
NM_000203.5(IDUA):c.1911_1931del (p.Tyr638_Pro644del)
|
rs2534104525
|
|
|
NM_000203.5(IDUA):c.218A>G (p.Asn73Ser)
|
rs1240696427
|
|
|
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
|
rs747981483
|
|
|
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
|
rs773908263
|
|
|
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)
|
rs564306004
|
|
|
NM_000203.5(IDUA):c.268A>G (p.Thr90Ala)
|
rs2534008454
|
|
|
NM_000203.5(IDUA):c.355G>T (p.Asp119Tyr)
|
rs765255638
|
|
|
NM_000203.5(IDUA):c.36_56del (p.Leu13_Ala19del)
|
rs2534003343
|
|
|
NM_000203.5(IDUA):c.386-44G>A
|
rs376679458
|
|
|
NM_000203.5(IDUA):c.416A>C (p.His139Pro)
|
rs2153021706
|
|
|
NM_000203.5(IDUA):c.463T>G (p.Leu155Val)
|
rs1459786307
|
|
|
NM_000203.5(IDUA):c.48G>A (p.Ser16=)
|
rs2153015172
|
|
|
NM_000203.5(IDUA):c.493G>A (p.Gly165Ser)
|
rs748326989
|
|
|
NM_000203.5(IDUA):c.50_61del (p.Leu17_Ala20del)
|
rs2534003478
|
|
|
NM_000203.5(IDUA):c.514G>A (p.Val172Ile)
|
rs139155899
|
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
|
NM_000203.5(IDUA):c.531C>G (p.Phe177Leu)
|
rs769331894
|
|
|
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
|
rs992336192
|
|
|
NM_000203.5(IDUA):c.534G>T (p.Glu178Asp)
|
rs762533612
|
|
|
NM_000203.5(IDUA):c.535A>T (p.Thr179Ser)
|
rs766030255
|
|
|
NM_000203.5(IDUA):c.542A>G (p.Asn181Ser)
|
rs1715072314
|
|
|
NM_000203.5(IDUA):c.547C>G (p.Pro183Ala)
|
rs757706461
|
|
|
NM_000203.5(IDUA):c.550G>T (p.Asp184Tyr)
|
rs1715073200
|
|
|
NM_000203.5(IDUA):c.551A>G (p.Asp184Gly)
|
rs2534083036
|
|
|
NM_000203.5(IDUA):c.579G>A (p.Met193Ile)
|
rs2153021918
|
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
|
NM_000203.5(IDUA):c.628C>G (p.Arg210Gly)
|
rs992408218
|
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
|
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
|
rs2534084817
|
|
|
NM_000203.5(IDUA):c.664G>T (p.Gly222Cys)
|
rs1367413817
|
|
|
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr)
|
rs183347428
|
|
|
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
|
rs1715096917
|
|
|
NM_000203.5(IDUA):c.726C>A (p.His242Gln)
|
rs2534085348
|
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
|
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
|
rs760812013
|
|
|
NM_000203.5(IDUA):c.749G>T (p.Gly250Val)
|
rs2534085614
|
|
|
NM_000203.5(IDUA):c.758G>A (p.Gly253Asp)
|
rs1167839388
|
|
|
NM_000203.5(IDUA):c.773A>G (p.Tyr258Cys)
|
rs1230294335
|
|
|
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu)
|
rs2153022099
|
|
|
NM_000203.5(IDUA):c.785A>G (p.His262Arg)
|
rs1031451164
|
|
|
NM_000203.5(IDUA):c.792+38_793-24del
|
rs2534086499
|
|
|
NM_000203.5(IDUA):c.792G>T (p.Lys264Asn)
|
rs2534086164
|
|
|
NM_000203.5(IDUA):c.793-9C>A
|
rs375798875
|
|
|
NM_000203.5(IDUA):c.793G>A (p.Gly265Ser)
|
rs369090960
|
|
|
NM_000203.5(IDUA):c.806C>A (p.Ser269Tyr)
|
rs202051939
|
|
|
NM_000203.5(IDUA):c.814A>T (p.Ile272Phe)
|
rs536381533
|
|
|
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
|
rs779448832
|
|
|
NM_000203.5(IDUA):c.880C>A (p.Pro294Thr)
|
rs1473703840
|
|
|
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
|
rs1031564096
|
|
|
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
|
rs1715120552
|
|
|
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
|
rs1715120993
|
|
|
NM_000203.5(IDUA):c.904C>T (p.Pro302Ser)
|
rs1715120993
|
|
|
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
|
rs377684568
|
|
|
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
|
rs2534088071
|
|
|
NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
|
rs781534097
|
|
|
NM_000203.5(IDUA):c.961A>G (p.Met321Val)
|
rs756173284
|
|
|
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
|
rs1222686614
|
|
|
NM_000206.3(IL2RG):c.239C>T (p.Pro80Leu)
|
rs1343008020
|
|
|
NM_000206.3(IL2RG):c.98A>G (p.Asn33Ser)
|
rs2519648645
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
|
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)
|
rs752633548
|
|
|
NM_000212.3(ITGB3):c.703A>G (p.Lys235Glu)
|
rs1315914828
|
|
|
NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr)
|
rs1170183740
|
|
|
NM_000214.3(JAG1):c.18G>C (p.Thr6=)
|
rs576539291
|
|
|
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)
|
rs1413360004
|
|
|
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys)
|
rs2514524403
|
|
|
NM_000215.4(JAK3):c.184+5G>A
|
rs2514581990
|
|
|
NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg)
|
rs754549386
|
|
|
NM_000217.3(KCNA1):c.457G>T (p.Val153Leu)
|
rs1288483498
|
|
|
NM_000217.3(KCNA1):c.502G>A (p.Val168Ile)
|
rs2497352477
|
|
|
NM_000217.3(KCNA1):c.608A>G (p.His203Arg)
|
rs1185396833
|
|
|
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu)
|
rs1849965957
|
|
|
NM_000218.3(KCNQ1):c.1690G>A (p.Asp564Asn)
|
rs764389392
|
|
|
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
|
rs199473470
|
|
|
NM_000222.3(KIT):c.1080A>C (p.Glu360Asp)
|
rs753844400
|
|
|
NM_000228.3(LAMB3):c.2873G>A (p.Arg958His)
|
rs142984572
|
|
|
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu)
|
rs1877867873
|
|
|
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del)
|
rs1349925286
|
|
|
NM_000231.3(SGCG):c.195+3A>T
|
rs1173625904
|
|
|
NM_000231.3(SGCG):c.256T>G (p.Phe86Val)
|
rs2541900247
|
|
|
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp)
|
rs886044395
|
|
|
NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)
|
rs747046381
|
|
|
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser)
|
rs1451332880
|
|
|
NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)
|
rs1203173562
|
|
|
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr)
|
rs886042216
|
|
|
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu)
|
rs753806016
|
|
|
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
|
rs753751942
|
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
|
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg)
|
rs1456517729
|
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
|
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp)
|
rs1560567653
|
|
|
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
|
rs893460824
|
|
|
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
|
rs146960385
|
|
|
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
|
rs2475220092
|
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
|
NM_000234.3(LIG1):c.1306del (p.His436fs)
|
rs2514117475
|
|
|
NM_000237.3(LPL):c.641G>T (p.Arg214Ile)
|
rs2540105771
|
|
|
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)
|
rs199472905
|
|
|
NM_000238.4(KCNH2):c.1729C>T (p.Pro577Ser)
|
rs2486038311
|
|
|
NM_000238.4(KCNH2):c.2738C>A (p.Ala913Glu)
|
rs77331749
|
|
|
NM_000238.4(KCNH2):c.2984C>A (p.Ser995Tyr)
|
rs2116930440
|
|
|
NM_000238.4(KCNH2):c.731C>T (p.Ala244Val)
|
rs748762712
|
|
|
NM_000243.3(MEFV):c.1252G>C (p.Glu418Gln)
|
rs1958996963
|
|
|
NM_000243.3(MEFV):c.148C>G (p.Pro50Ala)
|
rs1243710109
|
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
|
NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)
|
rs2543157184
|
|
|
NM_000243.3(MEFV):c.667C>T (p.Gln223Ter)
|
rs1439565398
|
|
|
NM_000245.4(MET):c.253A>G (p.Lys85Glu)
|
rs1791469321
|
|
|
NM_000245.4(MET):c.3076T>C (p.Tyr1026His)
|
rs1484799408
|
|
|
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp)
|
rs1794955289
|
|
|
NM_000245.4(MET):c.364G>A (p.Val122Ile)
|
rs2116586974
|
|
|
NM_000245.4(MET):c.703A>G (p.Ile235Val)
|
rs1266863567
|
|
|
NM_000246.4(CIITA):c.2537A>G (p.His846Arg)
|
rs1279467526
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.604G>A (p.Ala202Thr)
|
rs2125808341
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)
|
rs1060502019
|
|
|
NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser)
|
rs587782627
|
|
|
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser)
|
rs1558519495
|
|
|
NM_000251.3(MSH2):c.215C>A (p.Ala72Glu)
|
rs1558457009
|
|
|
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_000252.3(MTM1):c.1174A>T (p.Met392Leu)
|
rs2522435410
|
|
|
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
|
rs2522443700
|
|
|
NM_000252.3(MTM1):c.1729G>T (p.Ala577Ser)
|
rs148195763
|
|
|
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
|
rs2522227493
|
|
|
NM_000252.3(MTM1):c.413C>T (p.Thr138Met)
|
rs374075654
|
|
|
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)
|
rs2148488364
|
|
|
NM_000252.3(MTM1):c.935A>G (p.His312Arg)
|
rs2522399378
|
|
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
|
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
|
rs2528564563
|
|
|
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
|
rs2127412078
|
|
|
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
|
rs2481347836
|
|
|
NM_000256.3(MYBPC3):c.1679A>T (p.Asp560Val)
|
rs2495761391
|
|
|
NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys)
|
rs375322174
|
|
|
NM_000256.3(MYBPC3):c.3191-45_3191-42del
|
rs2095879219
|
|
|
NM_000257.4(MYH7):c.1082A>G (p.Asn361Ser)
|
rs2502305420
|
|
|
NM_000257.4(MYH7):c.1452del (p.Lys484fs)
|
rs2502300328
|
|
|
NM_000257.4(MYH7):c.1556C>T (p.Ala519Val)
|
rs1555338241
|
|
|
NM_000257.4(MYH7):c.1717C>A (p.Pro573Thr)
|
rs2502297085
|
|
|
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser)
|
rs730880880
|
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
|
NM_000257.4(MYH7):c.2075A>C (p.Gln692Pro)
|
rs2502289777
|
|
|
NM_000257.4(MYH7):c.2135G>A (p.Arg712His)
|
rs1224554825
|
|
|
NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)
|
rs397516142
|
|
|
NM_000257.4(MYH7):c.2424-3C>A
|
rs112261878
|
|
|
NM_000257.4(MYH7):c.244C>G (p.Pro82Ala)
|
rs2502320292
|
|
|
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg)
|
rs1566531657
|
|
|
NM_000257.4(MYH7):c.2500T>C (p.Phe834Leu)
|
rs2502283990
|
|
|
NM_000257.4(MYH7):c.2725_2745dup (p.Ile909_Leu915dup)
|
rs1555337594
|
|
|
NM_000257.4(MYH7):c.3019C>G (p.Leu1007Val)
|
rs1308445601
|
|
|
NM_000257.4(MYH7):c.3083A>G (p.Glu1028Gly)
|
rs397516177
|
|
|
NM_000257.4(MYH7):c.3139G>C (p.Asp1047His)
|
rs2502272771
|
|
|
NM_000257.4(MYH7):c.3246-3C>A
|
rs112287277
|
|
|
NM_000257.4(MYH7):c.3590_3591insAAGAAG (p.Ala1197_Asp1198insArgSer)
|
rs763861806
|
|
|
NM_000257.4(MYH7):c.3592del (p.Asp1198fs)
|
rs755646089
|
|
|
NM_000257.4(MYH7):c.3797C>G (p.Thr1266Ser)
|
rs753486249
|
|
|
NM_000257.4(MYH7):c.3829C>T (p.Arg1277Trp)
|
rs727503248
|
|
|
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)
|
rs397516195
|
|
|
NM_000257.4(MYH7):c.3971A>G (p.Lys1324Arg)
|
rs2502260027
|
|
|
NM_000257.4(MYH7):c.4063G>A (p.Ala1355Thr)
|
rs755058300
|
|
|
NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser)
|
rs45451303
|
|
|
NM_000257.4(MYH7):c.4170G>A (p.Lys1390=)
|
rs1892281118
|
|
|
NM_000257.4(MYH7):c.4172A>G (p.Lys1391Arg)
|
rs2502252338
|
|
|
NM_000257.4(MYH7):c.4322_4324dup (p.Ala1441_Leu1442insPro)
|
rs2138646436
|
|
|
NM_000257.4(MYH7):c.4327G>C (p.Asp1443His)
|
rs2138646412
|
|
|
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu)
|
rs182311329
|
|
|
NM_000257.4(MYH7):c.4414_4416del (p.Lys1472del)
|
rs1555336672
|
|
|
NM_000257.4(MYH7):c.4467G>C (p.Glu1489Asp)
|
rs1892253421
|
|
|
NM_000257.4(MYH7):c.4493T>A (p.Phe1498Tyr)
|
rs1445128471
|
|
|
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr)
|
rs2138645175
|
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
|
NM_000257.4(MYH7):c.4547T>A (p.Leu1516Ter)
|
rs2502248821
|
|
|
NM_000257.4(MYH7):c.4555A>G (p.Ser1519Gly)
|
rs2502248770
|
|
|
NM_000257.4(MYH7):c.4616A>G (p.Glu1539Gly)
|
rs1446214564
|
|
|
NM_000257.4(MYH7):c.4648T>C (p.Ser1550Pro)
|
rs1555336492
|
|
|
NM_000257.4(MYH7):c.4700A>C (p.Gln1567Pro)
|
rs2502245629
|
|
|
NM_000257.4(MYH7):c.4802T>C (p.Leu1601Pro)
|
rs2138642131
|
|
|
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)
|
rs730880810
|
|
|
NM_000257.4(MYH7):c.4909G>C (p.Ala1637Pro)
|
rs141122361
|
|
|
NM_000257.4(MYH7):c.4915G>A (p.Ala1639Thr)
|
rs864309553
|
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
|
rs763538103
|
|
|
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)
|
rs587779394
|
|
|
NM_000257.4(MYH7):c.5132A>G (p.Glu1711Gly)
|
rs2502242233
|
|
|
NM_000257.4(MYH7):c.5194G>C (p.Ala1732Pro)
|
rs2502241163
|
|
|
NM_000257.4(MYH7):c.5201T>G (p.Leu1734Arg)
|
rs772504062
|
|
|
NM_000257.4(MYH7):c.5239del (p.Glu1747fs)
|
rs1892151832
|
|
|
NM_000257.4(MYH7):c.5287G>T (p.Ala1763Ser)
|
rs727504355
|
|
|
NM_000257.4(MYH7):c.5306T>C (p.Leu1769Pro)
|
rs1892140874
|
|
|
NM_000257.4(MYH7):c.5332C>T (p.His1778Tyr)
|
rs397516244
|
|
|
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro)
|
rs1114167322
|
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
|
NM_000257.4(MYH7):c.5761C>T (p.Arg1921Trp)
|
rs539290591
|
|
|
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)
|
rs771522982
|
|
|
NM_000260.4(MYO7A):c.1080+5G>A
|
rs2496812450
|
|
|
NM_000260.4(MYO7A):c.133_153dup
|
|
|
|
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser)
|
rs782043663
|
|
|
NM_000260.4(MYO7A):c.167T>C (p.Ile56Thr)
|
rs1555054651
|
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
|
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr)
|
rs1954489249
|
|
|
NM_000260.4(MYO7A):c.4246_4248delinsCAA (p.Tyr1416Gln)
|
rs2497491001
|
|
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
|
NM_000260.4(MYO7A):c.5945-30del
|
rs746999215
|
|
|
NM_000262.3(NAGA):c.1084G>A (p.Gly362Arg)
|
rs147253075
|
|
|
NM_000263.4(NAGLU):c.1097T>A (p.Ile366Asn)
|
rs2510658822
|
|
|
NM_000263.4(NAGLU):c.1101_1112dup (p.Val373_Pro374insLeuGlyAlaVal)
|
rs2510658837
|
|
|
NM_000263.4(NAGLU):c.2054G>T (p.Ser685Ile)
|
rs2092930357
|
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
rs1489785243
|
|
|
NM_000264.5(PTCH1):c.2138C>T (p.Ser713Phe)
|
rs1554694963
|
|
|
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)
|
rs1843660253
|
|
|
NM_000264.5(PTCH1):c.3895G>A (p.Gly1299Ser)
|
rs2538002296
|
|
|
NM_000266.4(NDP):c.44T>C (p.Leu15Pro)
|
rs1602067068
|
|
|
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys)
|
rs771143279
|
|
|
NM_000268.4(NF2):c.851A>G (p.Lys284Arg)
|
rs764034925
|
|
|
NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro)
|
rs1252597925
|
|
|
NM_000271.5(NPC1):c.1453T>G (p.Leu485Val)
|
rs2511275910
|
|
|
NM_000271.5(NPC1):c.1900T>A (p.Tyr634Asn)
|
rs2511239796
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
|
NM_000271.5(NPC1):c.3340A>G (p.Met1114Val)
|
rs1567945556
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
|
NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)
|
rs1567969356
|
|
|
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)
|
rs868238523
|
|
|
NM_000275.3(OCA2):c.2018T>A (p.Ile673Asn)
|
rs2506065369
|
|
|
NM_000276.4(OCRL):c.1933A>G (p.Ile645Val)
|
rs1569461810
|
|
|
NM_000276.4(OCRL):c.461A>G (p.Asn154Ser)
|
rs1320309726
|
|
|
NM_000276.4(OCRL):c.616A>G (p.Met206Val)
|
rs2521878779
|
|
|
NM_000276.4(OCRL):c.785T>C (p.Leu262Pro)
|
rs2521883466
|
|
|
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
|
rs964113908
|
|
|
NM_000276.4(OCRL):c.916C>T (p.His306Tyr)
|
rs2521885633
|
|
|
NM_000277.3(PAH):c.720C>T (p.Phe240=)
|
rs2499623539
|
|
|
NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)
|
rs147636578
|
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
|
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
|
rs1354175358
|
|
|
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
|
rs2088291040
|
|
|
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
|
rs2549094814
|
|
|
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
|
rs776429023
|
|
|
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
|
rs1444049793
|
|
|
NM_000283.4(PDE6B):c.1540C>G (p.Leu514Val)
|
rs780830241
|
|
|
NM_000284.4(PDHA1):c.*10_*12del
|
rs752082232
|
|
|
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
|
rs2518507636
|
|
|
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
|
rs2519339558
|
|
|
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
|
rs2519339766
|
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
|
NM_000287.4(PEX6):c.161T>G (p.Val54Gly)
|
rs2150240668
|
|
|
NM_000287.4(PEX6):c.1689-3C>T
|
rs769573987
|
|
|
NM_000287.4(PEX6):c.1723C>T (p.Arg575Trp)
|
rs755211783
|
|
|
NM_000287.4(PEX6):c.2048T>C (p.Leu683Pro)
|
rs267608231
|
|
|
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg)
|
rs1254717257
|
|
|
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala)
|
rs983060034
|
|
|
NM_000288.4(PEX7):c.166G>T (p.Ala56Ser)
|
rs757833805
|
|
|
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
|
rs376138631
|
|
|
NM_000289.6(PFKM):c.1654-54_1654-46del
|
rs796455394
|
|
|
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
|
rs2498650429
|
|
|
NM_000289.6(PFKM):c.2093-33G>C
|
rs140900282
|
|
|
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
|
rs2540764844
|
|
|
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
|
rs761375720
|
|
|
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
|
rs2540765934
|
|
|
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)
|
rs138954968
|
|
|
NM_000291.4(PGK1):c.178C>T (p.Leu60Phe)
|
rs2522486680
|
|
|
NM_000291.4(PGK1):c.338_346del (p.Ala113_Ser115del)
|
rs2522487504
|
|
|
NM_000291.4(PGK1):c.53G>C (p.Arg18Pro)
|
rs782639483
|
|
|
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
|
rs770578105
|
|
|
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
|
rs2518500361
|
|
|
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
|
rs2048436860
|
|
|
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)
|
rs1601758342
|
|
|
NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp)
|
rs2506609993
|
|
|
NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)
|
rs2543470850
|
|
|
NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal)
|
rs1578133676
|
|
|
NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)
|
rs2475986589
|
|
|
NM_000298.6(PKLR):c.1013G>A (p.Gly338Glu)
|
rs2525287857
|
|
|
NM_000298.6(PKLR):c.1045G>C (p.Val349Leu)
|
rs1647414487
|
|
|
NM_000298.6(PKLR):c.1069A>G (p.Ile357Val)
|
rs1557958688
|
|
|
NM_000298.6(PKLR):c.1114C>G (p.Gln372Glu)
|
rs1482703790
|
|
|
NM_000298.6(PKLR):c.1129A>G (p.Met377Val)
|
rs2525282622
|
|
|
NM_000298.6(PKLR):c.1145G>C (p.Arg382Pro)
|
rs952129836
|
|
|
NM_000298.6(PKLR):c.1156G>A (p.Ala386Thr)
|
rs2525282250
|
|
|
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr)
|
rs1403323591
|
|
|
NM_000298.6(PKLR):c.1183G>A (p.Val395Met)
|
rs1451219602
|
|
|
NM_000298.6(PKLR):c.1252G>A (p.Val418Met)
|
rs759855502
|
|
|
NM_000298.6(PKLR):c.1270-3C>A
|
rs1647338952
|
|
|
NM_000298.6(PKLR):c.1434C>T (p.Gly478=)
|
rs774262110
|
|
|
NM_000298.6(PKLR):c.1442C>T (p.Ala481Val)
|
rs773040738
|
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
|
NM_000298.6(PKLR):c.1591C>T (p.Arg531Cys)
|
rs1674554041
|
|
|
NM_000298.6(PKLR):c.1603T>C (p.Phe535Leu)
|
rs1674553211
|
|
|
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
|
rs1052176
|
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
|
NM_000298.6(PKLR):c.260G>A (p.Ser87Asn)
|
rs2525337015
|
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
|
NM_000298.6(PKLR):c.673T>C (p.Ser225Pro)
|
rs2525296268
|
|
|
NM_000298.6(PKLR):c.716A>C (p.Gln239Pro)
|
rs2525292607
|
|
|
NM_000298.6(PKLR):c.722A>T (p.Glu241Val)
|
rs776546824
|
|
|
NM_000298.6(PKLR):c.740G>A (p.Gly247Asp)
|
rs1443489252
|
|
|
NM_000298.6(PKLR):c.762G>C (p.Leu254Phe)
|
rs943436402
|
|
|
NM_000298.6(PKLR):c.767G>A (p.Gly256Glu)
|
rs1647452916
|
|
|
NM_000298.6(PKLR):c.980T>C (p.Leu327Pro)
|
rs758924903
|
|
|
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
|
rs779314278
|
|
|
NM_000303.3(PMM2):c.348-2_348-1insAA
|
rs2549146945
|
|
|
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
|
rs368582085
|
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
|
NM_000304.4(PMP22):c.109G>C (p.Asp37His)
|
rs1444447898
|
|
|
NM_000311.5(PRNP):c.452G>T (p.Arg151Leu)
|
rs779113268
|
|
|
NM_000312.4(PROC):c.1297G>A (p.Gly433Ser)
|
rs1266965698
|
|
|
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)
|
rs1436671530
|
|
|
NM_000314.8(PTEN):c.-781G>C
|
rs2493585505
|
|
|
NM_000314.8(PTEN):c.469G>A (p.Glu157Lys)
|
rs121909220
|
|
|
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys)
|
rs1564837839
|
|
|
NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys)
|
rs786204866
|
|
|
NM_000315.4(PTH):c.86+4_86+7del
|
rs2499940080
|
|
|
NM_000316.3(PTH1R):c.1393G>C (p.Glu465Gln)
|
rs1683106396
|
|
|
NM_000317.3(PTS):c.243+4A>G
|
rs2496567668
|
|
|
NM_000318.3(PEX2):c.19A>C (p.Asn7His)
|
rs576066189
|
|
|
NM_000318.3(PEX2):c.596G>A (p.Gly199Asp)
|
rs371151521
|
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
|
NM_000324.3(RHAG):c.102G>C (p.Glu34Asp)
|
rs2532634584
|
|
|
NM_000324.3(RHAG):c.1094T>G (p.Leu365Arg)
|
rs2127349337
|
|
|
NM_000324.3(RHAG):c.1165G>A (p.Gly389Arg)
|
rs553258732
|
|
|
NM_000324.3(RHAG):c.1204T>C (p.Tyr402His)
|
rs2532588085
|
|
|
NM_000324.3(RHAG):c.208A>C (p.Thr70Pro)
|
rs1158856928
|
|
|
NM_000324.3(RHAG):c.209C>T (p.Thr70Ile)
|
rs149343590
|
|
|
NM_000324.3(RHAG):c.464A>G (p.Asn155Ser)
|
rs2532606875
|
|
|
NM_000324.3(RHAG):c.958A>T (p.Thr320Ser)
|
rs1219021183
|
|
|
NM_000327.4(ROM1):c.339del (p.Leu114fs)
|
rs71458427
|
|
|
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
|
rs1645824226
|
|
|
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
|
rs2100805317
|
|
|
NM_000334.4(SCN4A):c.1282G>A (p.Val428Met)
|
rs532921435
|
|
|
NM_000334.4(SCN4A):c.1298T>C (p.Leu433Pro)
|
rs767992560
|
|
|
NM_000334.4(SCN4A):c.1339G>T (p.Ala447Ser)
|
rs1163735665
|
|
|
NM_000334.4(SCN4A):c.1343T>A (p.Met448Lys)
|
rs768617159
|
|
|
NM_000334.4(SCN4A):c.1499C>A (p.Pro500Gln)
|
rs1909346097
|
|
|
NM_000334.4(SCN4A):c.1532_1539delinsCTGAAGTT (p.Asp511_Ser513delinsAlaGluVal)
|
rs2509314201
|
|
|
NM_000334.4(SCN4A):c.1543G>T (p.Gly515Trp)
|
rs1003243368
|
|
|
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser)
|
rs143457794
|
|
|
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys)
|
rs143457794
|
|
|
NM_000334.4(SCN4A):c.1657C>G (p.His553Asp)
|
rs2509311075
|
|
|
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu)
|
rs371523329
|
|
|
NM_000334.4(SCN4A):c.1733C>T (p.Pro578Leu)
|
rs1370498653
|
|
|
NM_000334.4(SCN4A):c.1921G>A (p.Gly641Ser)
|
rs2509308057
|
|
|
NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp)
|
rs778197344
|
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
|
NM_000334.4(SCN4A):c.2230A>G (p.Met744Val)
|
rs2509305264
|
|
|
NM_000334.4(SCN4A):c.2303A>G (p.Asp768Gly)
|
rs763217422
|
|
|
NM_000334.4(SCN4A):c.2359G>T (p.Val787Phe)
|
rs532827016
|
|
|
NM_000334.4(SCN4A):c.2377G>C (p.Val793Leu)
|
rs1487423681
|
|
|
NM_000334.4(SCN4A):c.2398CTG[2] (p.Leu802del)
|
rs2509300700
|
|
|
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del)
|
rs776181227
|
|
|
NM_000334.4(SCN4A):c.2588_2596dup (p.Gly865_Glu866insGlyAlaGly)
|
rs2509300245
|
|
|
NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg)
|
rs752159625
|
|
|
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5])
|
rs768289095
|
|
|
NM_000334.4(SCN4A):c.2603G>T (p.Gly868Val)
|
rs2509300220
|
|
|
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala)
|
rs201148948
|
|
|
NM_000334.4(SCN4A):c.266A>G (p.Asn89Ser)
|
rs1358087685
|
|
|
NM_000334.4(SCN4A):c.2803A>G (p.Met935Val)
|
rs1451343629
|
|
|
NM_000334.4(SCN4A):c.2995G>C (p.Val999Leu)
|
rs377277110
|
|
|
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys)
|
rs1351279439
|
|
|
NM_000334.4(SCN4A):c.3038G>T (p.Arg1013Leu)
|
rs578232775
|
|
|
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser)
|
rs1347004471
|
|
|
NM_000334.4(SCN4A):c.3164T>A (p.Ile1055Asn)
|
rs893049769
|
|
|
NM_000334.4(SCN4A):c.3164T>C (p.Ile1055Thr)
|
rs893049769
|
|
|
NM_000334.4(SCN4A):c.325C>T (p.Pro109Ser)
|
rs1486813525
|
|
|
NM_000334.4(SCN4A):c.3313G>A (p.Val1105Met)
|
rs756884948
|
|
|
NM_000334.4(SCN4A):c.3392T>G (p.Leu1131Arg)
|
rs749642449
|
|
|
NM_000334.4(SCN4A):c.3491T>C (p.Leu1164Pro)
|
rs1444949985
|
|
|
NM_000334.4(SCN4A):c.3514C>A (p.Leu1172Met)
|
rs1250587890
|
|
|
NM_000334.4(SCN4A):c.3754G>A (p.Ala1252Thr)
|
rs2509289735
|
|
|
NM_000334.4(SCN4A):c.3769C>T (p.Arg1257Trp)
|
rs2509289708
|
|
|
NM_000334.4(SCN4A):c.38G>A (p.Gly13Asp)
|
rs1477585952
|
|
|
NM_000334.4(SCN4A):c.3915del (p.Asp1309fs)
|
rs2509288021
|
|
|
NM_000334.4(SCN4A):c.3989A>T (p.Lys1330Met)
|
rs1370264138
|
|
|
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser)
|
rs118047588
|
|
|
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
|
rs118047588
|
|
|
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)
|
rs748517635
|
|
|
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro)
|
rs1057520169
|
|
|
NM_000334.4(SCN4A):c.4435C>A (p.Leu1479Met)
|
rs2509285133
|
|
|
NM_000334.4(SCN4A):c.4457G>T (p.Gly1486Val)
|
rs1567816424
|
|
|
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val)
|
rs1280474636
|
|
|
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp)
|
rs1285419994
|
|
|
NM_000334.4(SCN4A):c.4573A>T (p.Ser1525Cys)
|
rs2509284777
|
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
|
NM_000334.4(SCN4A):c.483-5C>T
|
rs191547933
|
|
|
NM_000334.4(SCN4A):c.4870T>C (p.Trp1624Arg)
|
rs2509284051
|
|
|
NM_000334.4(SCN4A):c.4930G>T (p.Val1644Leu)
|
rs775486265
|
|
|
NM_000334.4(SCN4A):c.5035A>G (p.Ile1679Val)
|
rs770713266
|
|
|
NM_000334.4(SCN4A):c.5125A>C (p.Asn1709His)
|
rs2509283431
|
|
|
NM_000334.4(SCN4A):c.5222A>G (p.His1741Arg)
|
rs2509283157
|
|
|
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys)
|
rs758293600
|
|
|
NM_000334.4(SCN4A):c.5264G>T (p.Arg1755Leu)
|
rs373278632
|
|
|
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly)
|
rs1567815771
|
|
|
NM_000334.4(SCN4A):c.5401G>T (p.Ala1801Ser)
|
rs201192904
|
|
|
NM_000334.4(SCN4A):c.5420_5425del6
|
rs781515976
|
|
|
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)
|
rs1555604867
|
|
|
NM_000334.4(SCN4A):c.671T>A (p.Leu224Gln)
|
rs2509323319
|
|
|
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys)
|
rs201661188
|
|
|
NM_000334.4(SCN4A):c.724_725delinsAA (p.Ala242Asn)
|
rs2509320869
|
|
|
NM_000334.4(SCN4A):c.92G>A (p.Arg31Gln)
|
rs112142736
|
|
|
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu)
|
rs765525226
|
|
|
NM_000334.4(SCN4A):c.968C>G (p.Thr323Arg)
|
rs80338952
|
|
|
NM_000334.4(SCN4A):c.977G>T (p.Ser326Ile)
|
rs2509320246
|
|
|
NM_000335.5(SCN5A):c.178G>A (p.Ala60Thr)
|
rs1407018433
|
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
|
NM_000335.5(SCN5A):c.2066G>C (p.Arg689Pro)
|
rs199473145
|
|
|
NM_000335.5(SCN5A):c.224T>A (p.Leu75His)
|
rs2471904723
|
|
|
NM_000335.5(SCN5A):c.2330T>A (p.Phe777Tyr)
|
rs794728863
|
|
|
NM_000335.5(SCN5A):c.2672T>C (p.Ile891Thr)
|
rs775234338
|
|
|
NM_000335.5(SCN5A):c.3047C>A (p.Thr1016Lys)
|
rs199473185
|
|
|
NM_000335.5(SCN5A):c.329C>T (p.Ala110Val)
|
rs2062505799
|
|
|
NM_000335.5(SCN5A):c.3412G>A (p.Gly1138Ser)
|
rs2471638796
|
|
|
NM_000337.6(SGCD):c.313_315del (p.Lys105del)
|
rs1760622721
|
|
|
NM_000337.6(SGCD):c.314A>G (p.Lys105Arg)
|
rs1760622847
|
|
|
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)
|
rs766924806
|
|
|
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr)
|
rs886043902
|
|
|
NM_000337.6(SGCD):c.712G>T (p.Ala238Ser)
|
rs1757448747
|
|
|
NM_000337.6(SGCD):c.79A>T (p.Ile27Phe)
|
rs373824540
|
|
|
NM_000337.6(SGCD):c.823C>T (p.Gln275Ter)
|
rs2480211214
|
|
|
NM_000337.6(SGCD):c.832G>A (p.Ala278Thr)
|
rs753240054
|
|
|
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
|
rs750836049
|
|
|
NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)
|
rs2473906304
|
|
|
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)
|
rs2465949325
|
|
|
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg)
|
rs2104383996
|
|
|
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)
|
rs1672827519
|
|
|
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)
|
rs1671479591
|
|
|
NM_000342.4(SLC4A1):c.1037G>T (p.Arg346Leu)
|
rs199721620
|
|
|
NM_000342.4(SLC4A1):c.1177T>A (p.Tyr393Asn)
|
rs774339293
|
|
|
NM_000342.4(SLC4A1):c.1357CTG[1] (p.Leu454del)
|
rs2509966087
|
|
|
NM_000342.4(SLC4A1):c.1366G>A (p.Ala456Thr)
|
rs774299761
|
|
|
NM_000342.4(SLC4A1):c.1403T>G (p.Leu468Arg)
|
rs2144613014
|
|
|
NM_000342.4(SLC4A1):c.1421C>A (p.Ala474Asp)
|
rs770185997
|
|
|
NM_000342.4(SLC4A1):c.1424TCT[1] (p.Phe476del)
|
rs2509965960
|
|
|
NM_000342.4(SLC4A1):c.1431G>A (p.Ser477=)
|
rs1176855098
|
|
|
NM_000342.4(SLC4A1):c.1451_1468del (p.Leu484_Gly489del)
|
rs2509965760
|
|
|
NM_000342.4(SLC4A1):c.1468C>G (p.Arg490Gly)
|
rs1398477044
|
|
|
NM_000342.4(SLC4A1):c.1480G>T (p.Gly494Cys)
|
rs751771382
|
|
|
NM_000342.4(SLC4A1):c.1507_1512del (p.Leu503_Val504del)
|
rs2509965662
|
|
|
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=)
|
rs2144611947
|
|
|
NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)
|
rs1337883145
|
|
|
NM_000342.4(SLC4A1):c.1668C>G (p.Asn556Lys)
|
rs1346400624
|
|
|
NM_000342.4(SLC4A1):c.1954C>T (p.Pro652Ser)
|
rs2047372242
|
|
|
NM_000342.4(SLC4A1):c.1969T>A (p.Ser657Thr)
|
rs1273756688
|
|
|
NM_000342.4(SLC4A1):c.1972G>C (p.Glu658Gln)
|
rs75731670
|
|
|
NM_000342.4(SLC4A1):c.2000C>A (p.Ser667Tyr)
|
rs2509962519
|
|
|
NM_000342.4(SLC4A1):c.2135T>A (p.Met712Lys)
|
rs2509961037
|
|
|
NM_000342.4(SLC4A1):c.2137G>C (p.Gly713Arg)
|
rs2509961029
|
|
|
NM_000342.4(SLC4A1):c.2276A>C (p.Gln759Pro)
|
rs2509960805
|
|
|
NM_000342.4(SLC4A1):c.2450A>G (p.Lys817Arg)
|
rs777916348
|
|
|
NM_000342.4(SLC4A1):c.2520G>C (p.Gln840His)
|
rs781650676
|
|
|
NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del)
|
rs774121522
|
|
|
NM_000342.4(SLC4A1):c.2659G>C (p.Asp887His)
|
rs267604899
|
|
|
NM_000342.4(SLC4A1):c.2705del (p.Asp902fs)
|
rs2509957451
|
|
|
NM_000342.4(SLC4A1):c.2718del (p.Val907fs)
|
rs2509957415
|
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
|
NM_000342.4(SLC4A1):c.515G>T (p.Gly172Val)
|
rs1222836115
|
|
|
NM_000342.4(SLC4A1):c.547G>A (p.Asp183Asn)
|
rs1261071952
|
|
|
NM_000342.4(SLC4A1):c.698G>A (p.Arg233His)
|
rs369164512
|
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
|
NM_000342.4(SLC4A1):c.772C>A (p.Leu258Met)
|
rs758007015
|
|
|
NM_000342.4(SLC4A1):c.823C>A (p.His275Asn)
|
rs142866653
|
|
|
NM_000342.4(SLC4A1):c.866T>A (p.Met289Lys)
|
rs150403270
|
|
|
NM_000342.4(SLC4A1):c.904C>G (p.Gln302Glu)
|
rs2509967557
|
|
|
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
rs201383366
|
|
|
NM_000344.4(SMN1):c.317G>T (p.Gly106Val)
|
rs2532112549
|
|
|
NM_000344.4(SMN1):c.862dup (p.Arg288fs)
|
rs1580895068
|
|
|
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
|
rs542727010
|
|
|
NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)
|
rs1908140265
|
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
|
NM_000350.3(ABCA4):c.2734G>A (p.Gly912Arg)
|
rs1216408517
|
|
|
NM_000350.3(ABCA4):c.6694G>A (p.Glu2232Lys)
|
rs774350716
|
|
|
NM_000352.6(ABCC8):c.1468-48G>A
|
rs2496753266
|
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
|
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)
|
rs193929360
|
|
|
NM_000352.6(ABCC8):c.2725A>T (p.Arg909Trp)
|
rs1954647279
|
|
|
NM_000352.6(ABCC8):c.3408A>G (p.Pro1136=)
|
rs756140198
|
|
|
NM_000352.6(ABCC8):c.4674G>C (p.Glu1558Asp)
|
rs2133390078
|
|
|
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)
|
rs188677757
|
|
|
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr)
|
rs1057517837
|
|
|
NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)
|
rs761968652
|
|
|
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
|
rs2495781697
|
|
|
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
|
rs2495828134
|
|
|
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
|
rs2495815684
|
|
|
NM_000361.3(THBD):c.965G>A (p.Arg322Gln)
|
rs146549103
|
|
|
NM_000363.5(TNNI3):c.123C>G (p.Ile41Met)
|
rs1311862702
|
|
|
NM_000363.5(TNNI3):c.500T>C (p.Leu167Pro)
|
rs1391407750
|
|
|
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
|
rs2542449592
|
|
|
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
|
rs2542449717
|
|
|
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
|
rs782393784
|
|
|
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
|
rs2542450617
|
|
|
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
|
rs782680636
|
|
|
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
|
rs1437674941
|
|
|
NM_000368.5(TSC1):c.469A>G (p.Ile157Val)
|
rs1846673273
|
|
|
NM_000369.5(TSHR):c.1803T>A (p.Tyr601Ter)
|
rs759300253
|
|
|
NM_000369.5(TSHR):c.87C>G (p.Cys29Trp)
|
rs777166186
|
|
|
NM_000372.5(TYR):c.1114G>A (p.Gly372Arg)
|
rs2496618651
|
|
|
NM_000372.5(TYR):c.308G>T (p.Cys103Phe)
|
rs1943252098
|
|
|
NM_000372.5(TYR):c.797CAT[1] (p.Ser267del)
|
rs2496530826
|
|
|
NM_000376.3(VDR):c.446A>G (p.Asp149Gly)
|
rs2539984651
|
|
|
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
|
rs1828332236
|
|
|
NM_000381.4(MID1):c.693T>G (p.Ile231Met)
|
rs2519099653
|
|
|
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)
|
rs747951616
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
|
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro)
|
rs768660050
|
|
|
NM_000388.4(CASR):c.488C>T (p.Pro163Leu)
|
rs2107627915
|
|
|
NM_000388.4(CASR):c.95T>A (p.Ile32Asn)
|
rs2473205402
|
|
|
NM_000391.4(TPP1):c.1334G>A (p.Ser445Asn)
|
rs2493796552
|
|
|
NM_000391.4(TPP1):c.1351G>A (p.Asp451Asn)
|
rs1589947644
|
|
|
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)
|
rs201126448
|
|
|
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly)
|
rs796053435
|
|
|
NM_000391.4(TPP1):c.545T>C (p.Leu182Pro)
|
rs1855598902
|
|
|
NM_000391.4(TPP1):c.958G>A (p.Val320Met)
|
rs1360243655
|
|
|
NM_000392.5(ABCC2):c.4025C>A (p.Ser1342Tyr)
|
rs2039005548
|
|
|
NM_000392.5(ABCC2):c.415T>C (p.Ser139Pro)
|
rs2492842287
|
|
|
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)
|
rs149203102
|
|
|
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)
|
rs145169816
|
|
|
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
|
rs2469263760
|
|
|
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
|
rs1302199988
|
|
|
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala)
|
rs1686807213
|
|
|
NM_000395.3(CSF2RB):c.2245G>C (p.Ala749Pro)
|
rs2518010646
|
|
|
NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)
|
rs2518944897
|
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
rs774242947
|
|
|
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)
|
rs149268873
|
|
|
NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)
|
rs1169621833
|
|
|
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
|
rs367914897
|
|
|
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)
|
rs766031719
|
|
|
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)
|
rs1369861477
|
|
|
NM_000399.5(EGR2):c.458C>T (p.Thr153Ile)
|
rs1414598345
|
|
|
NM_000399.5(EGR2):c.514C>G (p.Pro172Ala)
|
rs1842199999
|
|
|
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)
|
rs753747037
|
|
|
NM_000400.4(ERCC2):c.185C>T (p.Ala62Val)
|
rs2514045108
|
|
|
NM_000400.4(ERCC2):c.2068C>T (p.Arg690Trp)
|
rs751956427
|
|
|
NM_000404.4(GLB1):c.206T>C (p.Leu69Pro)
|
rs2471449193
|
|
|
NM_000407.5(GP1BB):c.436C>T (p.Leu146Phe)
|
rs1936120179
|
|
|
NM_000410.4(HFE):c.202G>A (p.Val68Met)
|
rs776668429
|
|
|
NM_000414.4(HSD17B4):c.973G>T (p.Ala325Ser)
|
rs2531741496
|
|
|
NM_000419.5(ITGA2B):c.3088C>T (p.Pro1030Ser)
|
rs767931999
|
|
|
NM_000421.5(KRT10):c.1029+5_1029+9del
|
rs751102820
|
|
|
NM_000424.4(KRT5):c.539CCT[1] (p.Ser181del)
|
rs2498409143
|
|
|
NM_000426.4(LAMA2):c.1178G>T (p.Cys393Phe)
|
rs2482628047
|
|
|
NM_000426.4(LAMA2):c.13G>A (p.Ala5Thr)
|
rs367622987
|
|
|
NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser)
|
rs367622987
|
|
|
NM_000426.4(LAMA2):c.1439A>G (p.Asp480Gly)
|
rs1780696729
|
|
|
NM_000426.4(LAMA2):c.1494T>A (p.Ser498Arg)
|
rs763484341
|
|
|
NM_000426.4(LAMA2):c.1608+3A>C
|
rs548428526
|
|
|
NM_000426.4(LAMA2):c.1658G>C (p.Arg553Pro)
|
rs969938145
|
|
|
NM_000426.4(LAMA2):c.1658G>T (p.Arg553Leu)
|
rs969938145
|
|
|
NM_000426.4(LAMA2):c.1666C>T (p.Pro556Ser)
|
rs746185972
|
|
|
NM_000426.4(LAMA2):c.1670A>C (p.Gln557Pro)
|
rs1333451961
|
|
|
NM_000426.4(LAMA2):c.1696C>A (p.Gln566Lys)
|
rs1781600295
|
|
|
NM_000426.4(LAMA2):c.1697A>G (p.Gln566Arg)
|
rs1781600449
|
|
|
NM_000426.4(LAMA2):c.1712A>G (p.Asn571Ser)
|
rs2115037058
|
|
|
NM_000426.4(LAMA2):c.1722C>A (p.Ala574=)
|
rs777308198
|
|
|
NM_000426.4(LAMA2):c.1756_1757delinsCT (p.Ala586Leu)
|
rs1583219966
|
|
|
NM_000426.4(LAMA2):c.1885-5T>G
|
rs2482129414
|
|
|
NM_000426.4(LAMA2):c.2036C>G (p.Ala679Gly)
|
rs569768441
|
|
|
NM_000426.4(LAMA2):c.2156C>T (p.Ala719Val)
|
rs1278501682
|
|
|
NM_000426.4(LAMA2):c.2318G>A (p.Cys773Tyr)
|
rs746327071
|
|
|
NM_000426.4(LAMA2):c.2383G>A (p.Glu795Lys)
|
rs149896793
|
|
|
NM_000426.4(LAMA2):c.2432T>G (p.Leu811Arg)
|
rs2482210828
|
|
|
NM_000426.4(LAMA2):c.2468A>T (p.His823Leu)
|
rs1788616204
|
|
|
NM_000426.4(LAMA2):c.2488T>G (p.Leu830Val)
|
rs140283614
|
|
|
NM_000426.4(LAMA2):c.251G>C (p.Arg84Pro)
|
rs148607737
|
|
|
NM_000426.4(LAMA2):c.2650G>C (p.Gly884Arg)
|
rs1789394805
|
|
|
NM_000426.4(LAMA2):c.2657G>A (p.Cys886Tyr)
|
rs2482292365
|
|
|
NM_000426.4(LAMA2):c.2702G>T (p.Cys901Phe)
|
rs2482292677
|
|
|
NM_000426.4(LAMA2):c.2749+4_2749+15del
|
rs2482293091
|
|
|
NM_000426.4(LAMA2):c.2756G>A (p.Arg919His)
|
rs35277491
|
|
|
NM_000426.4(LAMA2):c.2791C>T (p.His931Tyr)
|
rs2482308404
|
|
|
NM_000426.4(LAMA2):c.3028G>A (p.Gly1010Ser)
|
rs2482335937
|
|
|
NM_000426.4(LAMA2):c.3122G>A (p.Cys1041Tyr)
|
rs2482348724
|
|
|
NM_000426.4(LAMA2):c.3240C>A (p.Asn1080Lys)
|
rs2114494005
|
|
|
NM_000426.4(LAMA2):c.3259G>A (p.Gly1087Ser)
|
rs2482399456
|
|
|
NM_000426.4(LAMA2):c.3305G>T (p.Arg1102Leu)
|
rs781580213
|
|
|
NM_000426.4(LAMA2):c.3406T>A (p.Cys1136Ser)
|
rs764024605
|
|
|
NM_000426.4(LAMA2):c.3426C>T (p.Gly1142=)
|
rs2482409878
|
|
|
NM_000426.4(LAMA2):c.3437A>C (p.Asp1146Ala)
|
rs2482409934
|
|
|
NM_000426.4(LAMA2):c.3484G>A (p.Gly1162Ser)
|
rs1774468014
|
|
|
NM_000426.4(LAMA2):c.3533C>T (p.Ala1178Val)
|
rs769663336
|
|
|
NM_000426.4(LAMA2):c.358G>C (p.Glu120Gln)
|
rs778869610
|
|
|
NM_000426.4(LAMA2):c.3635T>G (p.Phe1212Cys)
|
rs1219458656
|
|
|
NM_000426.4(LAMA2):c.3694C>G (p.Pro1232Ala)
|
rs201391981
|
|
|
NM_000426.4(LAMA2):c.3727G>A (p.Gly1243Arg)
|
rs2482415670
|
|
|
NM_000426.4(LAMA2):c.3730A>G (p.Lys1244Glu)
|
rs2482415690
|
|
|
NM_000426.4(LAMA2):c.3741G>A (p.Met1247Ile)
|
rs1423809515
|
|
|
NM_000426.4(LAMA2):c.3815C>T (p.Pro1272Leu)
|
rs1248093546
|
|
|
NM_000426.4(LAMA2):c.392A>T (p.Gln131Leu)
|
rs772666610
|
|
|
NM_000426.4(LAMA2):c.4010A>T (p.His1337Leu)
|
rs139739075
|
|
|
NM_000426.4(LAMA2):c.415G>T (p.Val139Leu)
|
rs372414339
|
|
|
NM_000426.4(LAMA2):c.435C>G (p.Asn145Lys)
|
rs2482427521
|
|
|
NM_000426.4(LAMA2):c.4397G>A (p.Cys1466Tyr)
|
rs1776320682
|
|
|
NM_000426.4(LAMA2):c.4405T>C (p.Cys1469Arg)
|
rs1776321127
|
|
|
NM_000426.4(LAMA2):c.4436A>G (p.Asn1479Ser)
|
rs772192897
|
|
|
NM_000426.4(LAMA2):c.4487C>A (p.Ala1496Asp)
|
rs147077184
|
|
|
NM_000426.4(LAMA2):c.4499G>T (p.Gly1500Val)
|
rs1009369314
|
|
|
NM_000426.4(LAMA2):c.4721G>A (p.Cys1574Tyr)
|
rs2482626595
|
|
|
NM_000426.4(LAMA2):c.4762C>G (p.Arg1588Gly)
|
rs568598684
|
|
|
NM_000426.4(LAMA2):c.4762C>T (p.Arg1588Cys)
|
rs568598684
|
|
|
NM_000426.4(LAMA2):c.4768G>A (p.Glu1590Lys)
|
rs143206604
|
|
|
NM_000426.4(LAMA2):c.4777G>A (p.Val1593Ile)
|
rs1777770421
|
|
|
NM_000426.4(LAMA2):c.4817A>G (p.Tyr1606Cys)
|
rs777274086
|
|
|
NM_000426.4(LAMA2):c.4841A>G (p.Asn1614Ser)
|
rs538466736
|
|
|
NM_000426.4(LAMA2):c.4909G>C (p.Glu1637Gln)
|
rs138303386
|
|
|
NM_000426.4(LAMA2):c.4945G>A (p.Glu1649Lys)
|
rs143215851
|
|
|
NM_000426.4(LAMA2):c.5023G>A (p.Ala1675Thr)
|
rs1420007591
|
|
|
NM_000426.4(LAMA2):c.5074G>C (p.Val1692Leu)
|
rs567613582
|
|
|
NM_000426.4(LAMA2):c.5078A>G (p.Asn1693Ser)
|
rs1554286924
|
|
|
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp)
|
rs1779325827
|
|
|
NM_000426.4(LAMA2):c.5212G>A (p.Glu1738Lys)
|
rs2482729812
|
|
|
NM_000426.4(LAMA2):c.5284C>T (p.Arg1762Trp)
|
rs746492572
|
|
|
NM_000426.4(LAMA2):c.545T>G (p.Ile182Ser)
|
rs2482428189
|
|
|
NM_000426.4(LAMA2):c.5564A>T (p.Tyr1855Phe)
|
rs1253703086
|
|
|
NM_000426.4(LAMA2):c.5621T>C (p.Ile1874Thr)
|
rs2533298250
|
|
|
NM_000426.4(LAMA2):c.5740G>A (p.Ala1914Thr)
|
rs765600723
|
|
|
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup)
|
rs1554295259
|
|
|
NM_000426.4(LAMA2):c.6031G>T (p.Asp2011Tyr)
|
rs2533379526
|
|
|
NM_000426.4(LAMA2):c.6094G>A (p.Ala2032Thr)
|
rs776279074
|
|
|
NM_000426.4(LAMA2):c.6106G>A (p.Ala2036Thr)
|
rs1554297641
|
|
|
NM_000426.4(LAMA2):c.6135C>G (p.Asn2045Lys)
|
rs756599307
|
|
|
NM_000426.4(LAMA2):c.6337C>T (p.Leu2113Phe)
|
rs1389550406
|
|
|
NM_000426.4(LAMA2):c.6352G>A (p.Glu2118Lys)
|
rs868446011
|
|
|
NM_000426.4(LAMA2):c.6455G>A (p.Gly2152Asp)
|
rs2114788571
|
|
|
NM_000426.4(LAMA2):c.6532G>A (p.Val2178Ile)
|
rs1311007463
|
|
|
NM_000426.4(LAMA2):c.6574-3T>G
|
rs2533418982
|
|
|
NM_000426.4(LAMA2):c.666A>C (p.Arg222Ser)
|
rs2114958704
|
|
|
NM_000426.4(LAMA2):c.6691C>G (p.Arg2231Gly)
|
rs374815503
|
|
|
NM_000426.4(LAMA2):c.670A>G (p.Ser224Gly)
|
rs1085307718
|
|
|
NM_000426.4(LAMA2):c.6727A>G (p.Ile2243Val)
|
rs1446174244
|
|
|
NM_000426.4(LAMA2):c.6766G>T (p.Val2256Leu)
|
rs2533424764
|
|
|
NM_000426.4(LAMA2):c.6836T>G (p.Leu2279Arg)
|
rs2533425021
|
|
|
NM_000426.4(LAMA2):c.6869A>G (p.Lys2290Arg)
|
rs781402843
|
|
|
NM_000426.4(LAMA2):c.7367A>G (p.Asn2456Ser)
|
rs2533459666
|
|
|
NM_000426.4(LAMA2):c.7452-3T>C
|
rs1179386258
|
|
|
NM_000426.4(LAMA2):c.7534C>T (p.Pro2512Ser)
|
rs756669467
|
|
|
NM_000426.4(LAMA2):c.7612G>A (p.Glu2538Lys)
|
rs1484185697
|
|
|
NM_000426.4(LAMA2):c.7633G>A (p.Asp2545Asn)
|
rs921396502
|
|
|
NM_000426.4(LAMA2):c.7636G>A (p.Val2546Ile)
|
rs565280107
|
|
|
NM_000426.4(LAMA2):c.7776G>C (p.Arg2592Ser)
|
rs1784591845
|
|
|
NM_000426.4(LAMA2):c.7889G>A (p.Arg2630Gln)
|
rs774656522
|
|
|
NM_000426.4(LAMA2):c.7942A>C (p.Asn2648His)
|
rs2533504053
|
|
|
NM_000426.4(LAMA2):c.7952T>C (p.Val2651Ala)
|
rs1427880407
|
|
|
NM_000426.4(LAMA2):c.8157_8159del (p.Glu2719del)
|
rs2533506106
|
|
|
NM_000426.4(LAMA2):c.8344A>C (p.Lys2782Gln)
|
rs761364243
|
|
|
NM_000426.4(LAMA2):c.8344A>G (p.Lys2782Glu)
|
rs761364243
|
|
|
NM_000426.4(LAMA2):c.8413A>G (p.Met2805Val)
|
rs376788876
|
|
|
NM_000426.4(LAMA2):c.8443A>G (p.Thr2815Ala)
|
rs1169241862
|
|
|
NM_000426.4(LAMA2):c.8456G>A (p.Arg2819Lys)
|
rs2533538525
|
|
|
NM_000426.4(LAMA2):c.8713A>C (p.Ser2905Arg)
|
rs2533562279
|
|
|
NM_000426.4(LAMA2):c.8746G>A (p.Ala2916Thr)
|
rs1786193952
|
|
|
NM_000426.4(LAMA2):c.8763T>C (p.Asp2921=)
|
rs956998936
|
|
|
NM_000426.4(LAMA2):c.8918C>A (p.Thr2973Lys)
|
rs145842163
|
|
|
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup)
|
rs1437850233
|
|
|
NM_000426.4(LAMA2):c.9106C>T (p.Arg3036Cys)
|
rs770673446
|
|
|
NM_000426.4(LAMA2):c.9109A>C (p.Ile3037Leu)
|
rs2533599349
|
|
|
NM_000426.4(LAMA2):c.9146A>G (p.Gln3049Arg)
|
rs2533599635
|
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
|
NM_000426.4(LAMA2):c.986C>G (p.Pro329Arg)
|
rs2482605592
|
|
|
NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala)
|
rs2492485106
|
|
|
NM_000429.3(MAT1A):c.691G>A (p.Val231Met)
|
rs990656798
|
|
|
NM_000430.4(PAFAH1B1):c.117+3A>G
|
rs2544086129
|
|
|
NM_000430.4(PAFAH1B1):c.362G>A (p.Ser121Asn)
|
rs2544090368
|
|
|
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)
|
rs397516404
|
|
|
NM_000433.4(NCF2):c.1A>T (p.Met1Leu)
|
rs780810631
|
|
|
NM_000433.4(NCF2):c.944C>A (p.Ser315Tyr)
|
rs868713492
|
|
|
NM_000435.3(NOTCH3):c.1972A>T (p.Ile658Phe)
|
rs2512654977
|
|
|
NM_000435.3(NOTCH3):c.4798T>C (p.Cys1600Arg)
|
rs2046726978
|
|
|
NM_000435.3(NOTCH3):c.5030C>T (p.Pro1677Leu)
|
rs2512624482
|
|
|
NM_000435.3(NOTCH3):c.6551C>T (p.Ser2184Leu)
|
rs1269752929
|
|
|
NM_000436.4(OXCT1):c.523A>G (p.Asn175Asp)
|
rs1749107382
|
|
|
NM_000436.4(OXCT1):c.564+44C>T
|
rs745840054
|
|
|
NM_000443.4(ABCB4):c.2817T>G (p.Ile939Met)
|
rs748739226
|
|
|
NM_000443.4(ABCB4):c.3597T>A (p.Asp1199Glu)
|
rs770421980
|
|
|
NM_000443.4(ABCB4):c.400C>A (p.Gln134Lys)
|
rs2546864932
|
|
|
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
|
rs2518674832
|
|
|
NM_000445.5(PLEC):c.29C>T (p.Ala10Val)
|
rs1554745719
|
|
|
NM_000445.5(PLEC):c.46T>G (p.Ser16Ala)
|
rs1833622575
|
|
|
NM_000445.5(PLEC):c.77G>T (p.Gly26Val)
|
rs2540070286
|
|
|
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_000455.5(STK11):c.1258G>A (p.Ala420Thr)
|
rs762482152
|
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
rs138986885
|
|
|
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
|
rs753796007
|
|
|
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)
|
rs1178608845
|
|
|
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr)
|
rs202172337
|
|
|
NM_000463.3(UGT1A1):c.164A>G (p.His55Arg)
|
rs2472939429
|
|
|
NM_000463.3(UGT1A1):c.355G>A (p.Asp119Asn)
|
rs2472953662
|
|
|
NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro)
|
rs751311281
|
|
|
NM_000463.3(UGT1A1):c.387C>G (p.His129Gln)
|
rs1697524405
|
|
|
NM_000463.3(UGT1A1):c.396_401del (p.His132_Lys134delinsGln)
|
rs1697528171
|
|
|
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)
|
rs780028785
|
|
|
NM_000463.3(UGT1A1):c.677T>C (p.Val226Ala)
|
rs1355767569
|
|
|
NM_000463.3(UGT1A1):c.695C>A (p.Thr232Asn)
|
rs147640261
|
|
|
NM_000465.4(BARD1):c.1472G>A (p.Gly491Glu)
|
rs746790865
|
|
|
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)
|
rs376256852
|
|
|
NM_000465.4(BARD1):c.1864C>T (p.Leu622Phe)
|
rs1453151719
|
|
|
NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)
|
rs751384676
|
|
|
NM_000465.4(BARD1):c.848C>T (p.Ala283Val)
|
rs1694987682
|
|
|
NM_000466.3(PEX1):c.2019C>G (p.Val673=)
|
rs368345209
|
|
|
NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)
|
rs1305700033
|
|
|
NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe)
|
rs760620313
|
|
|
NM_000466.3(PEX1):c.3265C>T (p.His1089Tyr)
|
rs755194145
|
|
|
NM_000474.4(TWIST1):c.169G>A (p.Gly57Ser)
|
rs2486051337
|
|
|
NM_000474.4(TWIST1):c.531T>A (p.Tyr177Ter)
|
rs201837657
|
|
|
NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)
|
rs2539168034
|
|
|
NM_000476.3(AK1):c.535G>C (p.Val179Leu)
|
rs190164259
|
|
|
NM_000478.6(ALPL):c.-6T>C
|
rs1481126465
|
|
|
NM_000479.5(AMH):c.864C>G (p.Asp288Glu)
|
rs199831511
|
|
|
NM_000481.4(AMT):c.1033+5G>A
|
rs2471145947
|
|
|
NM_000487.6(ARSA):c.1059C>T (p.Val353=)
|
rs2518325790
|
|
|
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)
|
rs199476392
|
|
|
NM_000487.6(ARSA):c.1400A>C (p.Gln467Pro)
|
rs2518321652
|
|
|
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
|
rs2526594931
|
|
|
NM_000489.6(ATRX):c.1309G>A (p.Ala437Thr)
|
rs2519998426
|
|
|
NM_000489.6(ATRX):c.1522A>C (p.Asn508His)
|
rs398123421
|
|
|
NM_000489.6(ATRX):c.1825C>T (p.Pro609Ser)
|
rs186742436
|
|
|
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)
|
rs1557140316
|
|
|
NM_000489.6(ATRX):c.2258A>G (p.Asp753Gly)
|
rs2148602818
|
|
|
NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)
|
rs2148594122
|
|
|
NM_000489.6(ATRX):c.3046A>G (p.Thr1016Ala)
|
rs1449076328
|
|
|
NM_000489.6(ATRX):c.3279G>T (p.Arg1093Ser)
|
rs1338921882
|
|
|
NM_000489.6(ATRX):c.4161A>C (p.Ser1387=)
|
rs2522780344
|
|
|
NM_000489.6(ATRX):c.4348G>C (p.Glu1450Gln)
|
rs2069290885
|
|
|
NM_000489.6(ATRX):c.5326T>G (p.Phe1776Val)
|
rs2148260119
|
|
|
NM_000489.6(ATRX):c.5742T>G (p.Asp1914Glu)
|
rs782603357
|
|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
|
NM_000489.6(ATRX):c.6511A>G (p.Met2171Val)
|
rs2520423912
|
|
|
NM_000489.6(ATRX):c.7067C>T (p.Ala2356Val)
|
rs2063228550
|
|
|
NM_000490.5(AVP):c.218T>C (p.Leu73Pro)
|
rs2517100396
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
|
NM_000492.4(CFTR):c.372C>T (p.Gly124=)
|
rs1060503162
|
|
|
NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)
|
rs1584837127
|
|
|
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
|
rs777147679
|
|
|
NM_000492.4(CFTR):c.41A>G (p.Lys14Arg)
|
rs772774651
|
|
|
NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)
|
rs1779066482
|
|
|
NM_000494.4(COL17A1):c.2039-108G>A
|
rs558878814
|
|
|
NM_000496.3(CRYBB2):c.112T>C (p.Cys38Arg)
|
rs2517853548
|
|
|
NM_000496.3(CRYBB2):c.152C>T (p.Ser51Phe)
|
rs2517853601
|
|
|
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg)
|
rs1569022638
|
|
|
NM_000497.4(CYP11B1):c.1148A>G (p.Glu383Gly)
|
rs2488675829
|
|
|
NM_000497.4(CYP11B1):c.1471C>T (p.Pro491Ser)
|
rs1816867832
|
|
|
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1])
|
rs782225994
|
|
|
NM_000501.4(ELN):c.1639G>A (p.Gly547Ser)
|
rs2486317277
|
|
|
NM_000501.4(ELN):c.251C>A (p.Ala84Glu)
|
rs1791498052
|
|
|
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
|
rs782292334
|
|
|
NM_000505.4(F12):c.720G>A (p.Pro240=)
|
rs1429841456
|
|
|
NM_000506.5(F2):c.118C>T (p.Arg40Trp)
|
rs1013222460
|
|
|
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)
|
rs755832705
|
|
|
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)
|
rs2142995782
|
|
|
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
|
rs1967935603
|
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
|
NM_000512.5(GALNS):c.120+4A>G
|
rs1213209894
|
|
|
NM_000512.5(GALNS):c.121-157C>T
|
rs1249952028
|
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
|
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.213C>G (p.Asn71Lys)
|
rs1303044825
|
|
|
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
|
rs2543660907
|
|
|
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
|
rs1276320689
|
|
|
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
|
rs2143002411
|
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
|
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp)
|
rs758439379
|
|
|
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
|
rs2543509044
|
|
|
NM_000516.7(GNAS):c.437T>C (p.Phe146Ser)
|
rs2146208470
|
|
|
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys)
|
rs2091303526
|
|
|
NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly)
|
rs2494295133
|
|
|
NM_000518.5(HBB):c.306G>T (p.Glu102Asp)
|
rs35209591
|
|
|
NM_000520.6(HEXA):c.1333A>G (p.Thr445Ala)
|
rs2542513018
|
|
|
NM_000521.4(HEXB):c.512G>T (p.Gly171Val)
|
rs2478711309
|
|
|
NM_000521.4(HEXB):c.969C>A (p.Asn323Lys)
|
rs762455258
|
|
|
NM_000525.4(KCNJ11):c.229A>G (p.Met77Val)
|
rs2496411723
|
|
|
NM_000525.4(KCNJ11):c.335C>A (p.Thr112Asn)
|
rs2496411183
|
|
|
NM_000527.5(LDLR):c.*2136A>G
|
rs769309590
|
|
|
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn)
|
rs730882080
|
|
|
NM_000528.4(MAN2B1):c.1422TCT[1] (p.Leu476del)
|
rs768030037
|
|
|
NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)
|
rs2512512177
|
|
|
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
|
rs991079968
|
|
|
NM_000530.8(MPZ):c.117T>A (p.His39Gln)
|
rs1670288439
|
|
|
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092
|
|
|
NM_000530.8(MPZ):c.358A>G (p.Ser120Gly)
|
rs2526238287
|
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
|
NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)
|
rs2519987002
|
|
|
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
|
rs2519950616
|
|
|
NM_000531.6(OTC):c.145A>C (p.Thr49Pro)
|
rs72554316
|
|
|
NM_000531.6(OTC):c.145A>T (p.Thr49Ser)
|
rs72554316
|
|
|
NM_000531.6(OTC):c.452T>G (p.Leu151Arg)
|
rs72556265
|
|
|
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)
|
rs1555975685
|
|
|
NM_000531.6(OTC):c.512A>G (p.Gln171Arg)
|
rs2519973592
|
|
|
NM_000531.6(OTC):c.52C>A (p.His18Asn)
|
rs2519941947
|
|
|
NM_000531.6(OTC):c.540+5G>C
|
rs1602029780
|
|
|
NM_000531.6(OTC):c.614T>G (p.Met205Arg)
|
rs2068501940
|
|
|
NM_000531.6(OTC):c.774T>G (p.Asn258Lys)
|
rs777282515
|
|
|
NM_000531.6(OTC):c.931G>A (p.Val311Met)
|
rs72558468
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
rs2529974111
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
|
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
|
rs2529893899
|
|
|
NM_000534.5(PMS1):c.1952G>A (p.Arg651Lys)
|
rs2056296674
|
|
|
NM_000534.5(PMS1):c.606_607del (p.Arg202fs)
|
rs2469551602
|
|
|
NM_000535.7(PMS2):c.2516A>G (p.His839Arg)
|
rs1562593924
|
|
|
NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)
|
rs758915031
|
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
|
NM_000540.3(RYR1):c.-568T>C
|
rs1972249896
|
|
|
NM_000540.3(RYR1):c.10054G>A (p.Glu3352Lys)
|
rs2145688597
|
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
|
NM_000540.3(RYR1):c.10184G>C (p.Arg3395Pro)
|
rs543161252
|
|
|
NM_000540.3(RYR1):c.10531G>A (p.Val3511Met)
|
rs376389988
|
|
|
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.10850A>C (p.Lys3617Thr)
|
rs968796694
|
|
|
NM_000540.3(RYR1):c.10852G>A (p.Ala3618Thr)
|
rs978802618
|
|
|
NM_000540.3(RYR1):c.10935C>A (p.Pro3645=)
|
rs2514495140
|
|
|
NM_000540.3(RYR1):c.10942C>T (p.Arg3648Trp)
|
rs2514496918
|
|
|
NM_000540.3(RYR1):c.10954A>G (p.Met3652Val)
|
rs769081932
|
|
|
NM_000540.3(RYR1):c.10981T>A (p.Trp3661Arg)
|
rs1343351943
|
|
|
NM_000540.3(RYR1):c.10999C>T (p.His3667Tyr)
|
rs776643556
|
|
|
NM_000540.3(RYR1):c.11049GGA[2] (p.Glu3687_Glu3689del)
|
rs760784102
|
|
|
NM_000540.3(RYR1):c.11053G>C (p.Glu3685Gln)
|
rs745315302
|
|
|
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=)
|
rs1971892935
|
|
|
NM_000540.3(RYR1):c.11339A>C (p.Gln3780Pro)
|
rs1971893769
|
|
|
NM_000540.3(RYR1):c.11342T>A (p.Met3781Lys)
|
rs973487940
|
|
|
NM_000540.3(RYR1):c.11354G>A (p.Cys3785Tyr)
|
rs1320234323
|
|
|
NM_000540.3(RYR1):c.11432T>A (p.Val3811Asp)
|
rs1401980921
|
|
|
NM_000540.3(RYR1):c.11516G>A (p.Ser3839Asn)
|
rs573322113
|
|
|
NM_000540.3(RYR1):c.11516G>C (p.Ser3839Thr)
|
rs573322113
|
|
|
NM_000540.3(RYR1):c.1174_1176dup (p.Cys392_Gln393insCys)
|
rs2514009816
|
|
|
NM_000540.3(RYR1):c.11810C>T (p.Ser3937Leu)
|
rs1204208366
|
|
|
NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp)
|
rs1972296024
|
|
|
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly)
|
rs1972296147
|
|
|
NM_000540.3(RYR1):c.12000G>A (p.Met4000Ile)
|
rs1972311281
|
|
|
NM_000540.3(RYR1):c.12037_12048del (p.Lys4013_Leu4016del)
|
rs1972429577
|
|
|
NM_000540.3(RYR1):c.12065T>G (p.Met4022Arg)
|
rs2514591833
|
|
|
NM_000540.3(RYR1):c.12068T>C (p.Val4023Ala)
|
rs746753643
|
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
|
NM_000540.3(RYR1):c.12122G>A (p.Arg4041Gln)
|
rs1466980845
|
|
|
NM_000540.3(RYR1):c.12173T>A (p.Leu4058His)
|
rs2514600384
|
|
|
NM_000540.3(RYR1):c.12189G>A (p.Met4063Ile)
|
rs940252727
|
|
|
NM_000540.3(RYR1):c.12191T>A (p.Phe4064Tyr)
|
rs1206834849
|
|
|
NM_000540.3(RYR1):c.12314C>T (p.Pro4105Leu)
|
rs1309530680
|
|
|
NM_000540.3(RYR1):c.12394C>G (p.Gln4132Glu)
|
rs1317236359
|
|
|
NM_000540.3(RYR1):c.12415G>A (p.Gly4139Ser)
|
rs1489505433
|
|
|
NM_000540.3(RYR1):c.12433C>G (p.Leu4145Val)
|
rs1599625537
|
|
|
NM_000540.3(RYR1):c.1244+3G>A
|
rs1967093875
|
|
|
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)
|
rs1213878810
|
|
|
NM_000540.3(RYR1):c.12463C>G (p.His4155Asp)
|
rs763831182
|
|
|
NM_000540.3(RYR1):c.12473G>A (p.Arg4158His)
|
rs2514653381
|
|
|
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)
|
rs1176364208
|
|
|
NM_000540.3(RYR1):c.12622C>G (p.Gln4208Glu)
|
rs2514654843
|
|
|
NM_000540.3(RYR1):c.1263C>A (p.Ser421Arg)
|
rs751745179
|
|
|
NM_000540.3(RYR1):c.12765C>T (p.Gly4255=)
|
rs746831862
|
|
|
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3])
|
rs746833347
|
|
|
NM_000540.3(RYR1):c.12797_12817del (p.Gly4266_Ala4272del)
|
rs928648668
|
|
|
NM_000540.3(RYR1):c.12797_12826dup (p.Gly4266_Ala4275dup)
|
rs1568582159
|
|
|
NM_000540.3(RYR1):c.12819_12830del (p.Glu4276_Ala4279del)
|
rs2514675919
|
|
|
NM_000540.3(RYR1):c.12857C>G (p.Ala4286Gly)
|
rs1355994729
|
|
|
NM_000540.3(RYR1):c.12863CGG[2] (p.Ala4290_Ala4291del)
|
rs1228854800
|
|
|
NM_000540.3(RYR1):c.12890_12910del (p.Val4297_Arg4303del)
|
rs2514676838
|
|
|
NM_000540.3(RYR1):c.12907C>G (p.Arg4303Gly)
|
rs1027792397
|
|
|
NM_000540.3(RYR1):c.12936_12956dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
|
rs2514677281
|
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1])
|
rs193922846
|
|
|
NM_000540.3(RYR1):c.13184A>C (p.Gln4395Pro)
|
rs1973368011
|
|
|
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del)
|
rs763413580
|
|
|
NM_000540.3(RYR1):c.13268A>C (p.Glu4423Ala)
|
rs1358394495
|
|
|
NM_000540.3(RYR1):c.13288G>C (p.Gly4430Arg)
|
rs1192218827
|
|
|
NM_000540.3(RYR1):c.13331G>T (p.Gly4444Val)
|
rs2514681614
|
|
|
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup)
|
rs1358102336
|
|
|
NM_000540.3(RYR1):c.13396C>A (p.Pro4466Thr)
|
rs986536757
|
|
|
NM_000540.3(RYR1):c.133C>G (p.Leu45Val)
|
rs1972639888
|
|
|
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg)
|
rs145167688
|
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
|
NM_000540.3(RYR1):c.13694T>G (p.Phe4565Cys)
|
rs764410690
|
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
|
NM_000540.3(RYR1):c.13744A>G (p.Lys4582Glu)
|
rs2514707306
|
|
|
NM_000540.3(RYR1):c.13766G>C (p.Gly4589Ala)
|
rs561047656
|
|
|
NM_000540.3(RYR1):c.1380C>G (p.His460Gln)
|
rs750304434
|
|
|
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys)
|
rs199592055
|
|
|
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro)
|
rs118192166
|
|
|
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg)
|
rs118192139
|
|
|
NM_000540.3(RYR1):c.14031G>C (p.Glu4677Asp)
|
rs1412023955
|
|
|
NM_000540.3(RYR1):c.1403G>A (p.Arg468Gln)
|
rs2514016793
|
|
|
NM_000540.3(RYR1):c.14063A>G (p.Tyr4688Cys)
|
rs2514718428
|
|
|
NM_000540.3(RYR1):c.14078C>T (p.Pro4693Leu)
|
rs1973805669
|
|
|
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu)
|
rs1049117716
|
|
|
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)
|
rs373919284
|
|
|
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)
|
rs1974036074
|
|
|
NM_000540.3(RYR1):c.14353T>C (p.Phe4785Leu)
|
rs1599660737
|
|
|
NM_000540.3(RYR1):c.14372T>G (p.Leu4791Arg)
|
rs2514748280
|
|
|
NM_000540.3(RYR1):c.14374T>C (p.Tyr4792His)
|
rs2514748296
|
|
|
NM_000540.3(RYR1):c.14399C>T (p.Ser4800Phe)
|
rs2514748577
|
|
|
NM_000540.3(RYR1):c.14416AAC[1] (p.Asn4807del)
|
rs2145895047
|
|
|
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=)
|
rs570469685
|
|
|
NM_000540.3(RYR1):c.14570T>G (p.Phe4857Cys)
|
rs1974148669
|
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
rs118192181
|
|
|
NM_000540.3(RYR1):c.14625G>T (p.Met4875Ile)
|
rs2514752628
|
|
|
NM_000540.3(RYR1):c.14643G>T (p.Met4881Ile)
|
rs376677576
|
|
|
NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu)
|
rs1599674197
|
|
|
NM_000540.3(RYR1):c.1468A>G (p.Ile490Val)
|
rs2514025267
|
|
|
NM_000540.3(RYR1):c.14713C>T (p.Pro4905Ser)
|
rs1057518924
|
|
|
NM_000540.3(RYR1):c.14725G>A (p.Glu4909Lys)
|
rs780237633
|
|
|
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys)
|
rs199826952
|
|
|
NM_000540.3(RYR1):c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle)
|
rs2514773543
|
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
|
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)
|
rs1974410266
|
|
|
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
|
|
NM_000540.3(RYR1):c.14852T>G (p.Val4951Gly)
|
rs2514778898
|
|
|
NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp)
|
rs1555805797
|
|
|
NM_000540.3(RYR1):c.15077_15079del (p.Gly5026del)
|
rs2514786881
|
|
|
NM_000540.3(RYR1):c.1550T>C (p.Ile517Thr)
|
rs1399467270
|
|
|
NM_000540.3(RYR1):c.1605C>A (p.Asn535Lys)
|
rs768530992
|
|
|
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)
|
rs200770015
|
|
|
NM_000540.3(RYR1):c.2008G>T (p.Val670Leu)
|
rs1199495792
|
|
|
NM_000540.3(RYR1):c.2242G>A (p.Asp748Asn)
|
rs1438203342
|
|
|
NM_000540.3(RYR1):c.2434G>A (p.Glu812Lys)
|
rs2514054814
|
|
|
NM_000540.3(RYR1):c.2474T>C (p.Ile825Thr)
|
rs1390490146
|
|
|
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg)
|
rs186983396
|
|
|
NM_000540.3(RYR1):c.2528G>T (p.Arg843Leu)
|
rs144911352
|
|
|
NM_000540.3(RYR1):c.2783T>G (p.Leu928Arg)
|
rs2514077962
|
|
|
NM_000540.3(RYR1):c.2920G>T (p.Val974Leu)
|
rs748676912
|
|
|
NM_000540.3(RYR1):c.3157G>A (p.Glu1053Lys)
|
rs746198645
|
|
|
NM_000540.3(RYR1):c.3346G>C (p.Ala1116Pro)
|
rs763044626
|
|
|
NM_000540.3(RYR1):c.3400G>A (p.Gly1134Ser)
|
rs1352060951
|
|
|
NM_000540.3(RYR1):c.3451A>G (p.Met1151Val)
|
rs2514113334
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
|
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp)
|
rs546323484
|
|
|
NM_000540.3(RYR1):c.3586G>A (p.Gly1196Ser)
|
rs761486341
|
|
|
NM_000540.3(RYR1):c.3601C>A (p.Leu1201Met)
|
rs1448249415
|
|
|
NM_000540.3(RYR1):c.3618C>G (p.Asp1206Glu)
|
rs191970833
|
|
|
NM_000540.3(RYR1):c.3773G>A (p.Arg1258Gln)
|
rs886054381
|
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
|
NM_000540.3(RYR1):c.3G>C (p.Met1Ile)
|
rs2513928864
|
|
|
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr)
|
rs933347966
|
|
|
NM_000540.3(RYR1):c.40C>T (p.Arg14Trp)
|
rs200665559
|
|
|
NM_000540.3(RYR1):c.425-4A>G
|
rs1369081033
|
|
|
NM_000540.3(RYR1):c.4306G>T (p.Val1436Leu)
|
rs200289457
|
|
|
NM_000540.3(RYR1):c.4338C>G (p.Cys1446Trp)
|
rs534607272
|
|
|
NM_000540.3(RYR1):c.4451G>A (p.Ser1484Asn)
|
rs2145503148
|
|
|
NM_000540.3(RYR1):c.4478T>G (p.Met1493Arg)
|
rs1568476094
|
|
|
NM_000540.3(RYR1):c.4502G>C (p.Ser1501Thr)
|
rs2514184558
|
|
|
NM_000540.3(RYR1):c.4550G>T (p.Cys1517Phe)
|
rs1321260327
|
|
|
NM_000540.3(RYR1):c.4553T>A (p.Leu1518Gln)
|
rs2514185120
|
|
|
NM_000540.3(RYR1):c.4792A>G (p.Met1598Val)
|
rs2145529267
|
|
|
NM_000540.3(RYR1):c.4985A>G (p.His1662Arg)
|
rs1969242394
|
|
|
NM_000540.3(RYR1):c.5002_5028del (p.Leu1668_Gly1676del)
|
rs751866564
|
|
|
NM_000540.3(RYR1):c.5042C>A (p.Ala1681Glu)
|
rs1032892846
|
|
|
NM_000540.3(RYR1):c.5242C>T (p.Pro1748Ser)
|
rs2514228338
|
|
|
NM_000540.3(RYR1):c.5347G>T (p.Val1783Leu)
|
rs375160141
|
|
|
NM_000540.3(RYR1):c.538-3C>G
|
rs1164560633
|
|
|
NM_000540.3(RYR1):c.5389C>T (p.Arg1797Cys)
|
rs1252469662
|
|
|
NM_000540.3(RYR1):c.5503G>A (p.Glu1835Lys)
|
rs1600773722
|
|
|
NM_000540.3(RYR1):c.5528A>T (p.Lys1843Met)
|
rs2514231205
|
|
|
NM_000540.3(RYR1):c.5606A>T (p.Glu1869Val)
|
rs754094372
|
|
|
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp)
|
rs1043076830
|
|
|
NM_000540.3(RYR1):c.5615C>A (p.Thr1872Asn)
|
rs373528296
|
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
|
NM_000540.3(RYR1):c.5680G>A (p.Glu1894Lys)
|
rs1568488417
|
|
|
NM_000540.3(RYR1):c.5690A>T (p.Glu1897Val)
|
rs2514246369
|
|
|
NM_000540.3(RYR1):c.5954G>A (p.Ser1985Asn)
|
rs1441012614
|
|
|
NM_000540.3(RYR1):c.6002C>G (p.Pro2001Arg)
|
rs760559322
|
|
|
NM_000540.3(RYR1):c.601A>G (p.Met201Val)
|
rs1972851843
|
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
|
NM_000540.3(RYR1):c.6058G>A (p.Asp2020Asn)
|
rs1162401451
|
|
|
NM_000540.3(RYR1):c.6204G>T (p.Glu2068Asp)
|
rs2145570603
|
|
|
NM_000540.3(RYR1):c.6248A>G (p.Glu2083Gly)
|
rs764547394
|
|
|
NM_000540.3(RYR1):c.6261G>C (p.Glu2087Asp)
|
rs376623643
|
|
|
NM_000540.3(RYR1):c.6451G>A (p.Asp2151Asn)
|
rs1555781651
|
|
|
NM_000540.3(RYR1):c.6567A>C (p.Lys2189Asn)
|
rs2514286229
|
|
|
NM_000540.3(RYR1):c.6715T>C (p.Phe2239Leu)
|
rs2514288917
|
|
|
NM_000540.3(RYR1):c.6938T>G (p.Leu2313Arg)
|
rs2514308255
|
|
|
NM_000540.3(RYR1):c.7105C>T (p.Arg2369Trp)
|
rs758509249
|
|
|
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
|
rs1057518940
|
|
|
NM_000540.3(RYR1):c.7243C>T (p.Arg2415Trp)
|
rs368013861
|
|
|
NM_000540.3(RYR1):c.7261G>C (p.Ala2421Pro)
|
rs193922808
|
|
|
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe)
|
rs767343838
|
|
|
NM_000540.3(RYR1):c.7489G>C (p.Asp2497His)
|
rs1430162222
|
|
|
NM_000540.3(RYR1):c.7536C>G (p.Ile2512Met)
|
rs368560744
|
|
|
NM_000540.3(RYR1):c.7537G>A (p.Glu2513Lys)
|
rs1970086634
|
|
|
NM_000540.3(RYR1):c.7588A>C (p.Met2530Leu)
|
rs746848608
|
|
|
NM_000540.3(RYR1):c.7613C>A (p.Thr2538Lys)
|
rs575446156
|
|
|
NM_000540.3(RYR1):c.7616C>G (p.Ala2539Gly)
|
rs761057071
|
|
|
NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)
|
rs1220636855
|
|
|
NM_000540.3(RYR1):c.7681C>T (p.Leu2561Phe)
|
rs1426100008
|
|
|
NM_000540.3(RYR1):c.7699C>G (p.Pro2567Ala)
|
rs374982449
|
|
|
NM_000540.3(RYR1):c.7742C>T (p.Ser2581Phe)
|
rs746348043
|
|
|
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly)
|
rs770719689
|
|
|
NM_000540.3(RYR1):c.785A>G (p.Glu262Gly)
|
rs2513988080
|
|
|
NM_000540.3(RYR1):c.7869G>C (p.Leu2623Phe)
|
rs375632461
|
|
|
NM_000540.3(RYR1):c.7874G>A (p.Arg2625His)
|
rs751301767
|
|
|
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)
|
rs747337318
|
|
|
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu)
|
rs150620191
|
|
|
NM_000540.3(RYR1):c.8030A>C (p.Lys2677Thr)
|
rs2514351510
|
|
|
NM_000540.3(RYR1):c.8038T>A (p.Trp2680Arg)
|
rs1453234577
|
|
|
NM_000540.3(RYR1):c.8071T>C (p.Tyr2691His)
|
rs1221624769
|
|
|
NM_000540.3(RYR1):c.8239A>C (p.Ile2747Leu)
|
rs2514355993
|
|
|
NM_000540.3(RYR1):c.8330A>G (p.Tyr2777Cys)
|
rs769276412
|
|
|
NM_000540.3(RYR1):c.8378C>T (p.Pro2793Leu)
|
rs777584701
|
|
|
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)
|
rs775492883
|
|
|
NM_000540.3(RYR1):c.8464A>T (p.Thr2822Ser)
|
rs2514362032
|
|
|
NM_000540.3(RYR1):c.8473A>G (p.Lys2825Glu)
|
rs2514362134
|
|
|
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del)
|
rs767722812
|
|
|
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg)
|
rs555470100
|
|
|
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp)
|
rs1234488220
|
|
|
NM_000540.3(RYR1):c.8725G>A (p.Asp2909Asn)
|
rs372974107
|
|
|
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT
|
rs2514371354
|
|
|
NM_000540.3(RYR1):c.8996C>T (p.Ala2999Val)
|
rs374272827
|
|
|
NM_000540.3(RYR1):c.9000+3G>A
|
rs2514394211
|
|
|
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.9151C>T (p.Arg3051Cys)
|
rs761187396
|
|
|
NM_000540.3(RYR1):c.9215C>T (p.Ala3072Val)
|
rs1970754416
|
|
|
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=)
|
rs2514406217
|
|
|
NM_000540.3(RYR1):c.957+5_957+29del
|
rs794726982
|
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
|
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr)
|
rs745421419
|
|
|
NM_000540.3(RYR1):c.9679C>T (p.Arg3227Trp)
|
rs765250427
|
|
|
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu)
|
rs201588259
|
|
|
NM_000543.5(SMPD1):c.101G>A (p.Gly34Asp)
|
rs1554933790
|
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
rs1446986999
|
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
|
NM_000545.8(HNF1A):c.1135C>T (p.Pro379Ser)
|
rs754729248
|
|
|
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)
|
rs1597349147
|
|
|
NM_000548.5(TSC2):c.1158C>A (p.Asp386Glu)
|
rs2151154909
|
|
|
NM_000548.5(TSC2):c.2072G>A (p.Arg691His)
|
rs370553131
|
|
|
NM_000548.5(TSC2):c.2252G>T (p.Arg751Leu)
|
rs749593050
|
|
|
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.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
|
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)
|
rs1555497641
|
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
|
NM_000548.5(TSC2):c.4141C>T (p.Pro1381Ser)
|
rs2090497403
|
|
|
NM_000548.5(TSC2):c.424G>A (p.Val142Ile)
|
rs2151043003
|
|
|
NM_000548.5(TSC2):c.449G>A (p.Gly150Glu)
|
rs2151043854
|
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
|
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala)
|
rs45498401
|
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
|
NM_000548.5(TSC2):c.596T>A (p.Val199Asp)
|
rs1555498243
|
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
|
NM_000551.4(VHL):c.46G>C (p.Glu16Gln)
|
rs1060503556
|
|
|
NM_000552.5(VWF):c.2206A>G (p.Met736Val)
|
rs1248628444
|
|
|
NM_000552.5(VWF):c.2374T>C (p.Cys792Arg)
|
rs2497586232
|
|
|
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro)
|
rs745569482
|
|
|
NM_000552.5(VWF):c.4414G>A (p.Asp1472Asn)
|
rs1800383
|
|
|
NM_000552.5(VWF):c.532+46_532+48del
|
rs556622594
|
|
|
NM_000552.5(VWF):c.7970A>C (p.Gln2657Pro)
|
rs2497354800
|
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
|
NM_000553.6(WRN):c.2557G>A (p.Gly853Ser)
|
rs1554528396
|
|
|
NM_000553.6(WRN):c.407C>G (p.Ala136Gly)
|
rs1342850355
|
|
|
NM_000553.6(WRN):c.4111A>C (p.Lys1371Gln)
|
rs774007667
|
|
|
NM_000581.4(GPX1):c.164A>G (p.Asp55Gly)
|
rs986433349
|
|
|
NM_000581.4(GPX1):c.21GGC[7] (p.Ala13_Gln14insAla)
|
rs17838762
|
|
|
NM_000581.4(GPX1):c.223G>T (p.Gly75Cys)
|
rs763687242
|
|
|
NM_000581.4(GPX1):c.228C>A (p.Phe76Leu)
|
rs1204626735
|
|
|
NM_000581.4(GPX1):c.29C>T (p.Ala10Val)
|
rs1043210477
|
|
|
NM_000581.4(GPX1):c.302C>G (p.Pro101Arg)
|
rs746367588
|
|
|
NM_000581.4(GPX1):c.412G>A (p.Asp138Asn)
|
rs2470988220
|
|
|
NM_000581.4(GPX1):c.511C>T (p.Pro171Ser)
|
rs2047860323
|
|
|
NM_000581.4(GPX1):c.52G>T (p.Ala18Ser)
|
rs762298249
|
|
|
NM_000581.4(GPX1):c.564C>G (p.Ile188Met)
|
rs770771558
|
|
|
NM_000581.4(GPX1):c.568C>T (p.Pro190Ser)
|
rs777715410
|
|
|
NM_000581.4(GPX1):c.68C>A (p.Pro23Gln)
|
rs548384931
|
|
|
NM_000593.6(TAP1):c.2149G>T (p.Gly717Ter)
|
rs937604777
|
|
|
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)
|
rs765399679
|
|
|
NM_000637.5(GSR):c.433G>A (p.Glu145Lys)
|
rs1803979416
|
|
|
NM_000637.5(GSR):c.439C>G (p.Arg147Gly)
|
rs150594097
|
|
|
NM_000637.5(GSR):c.815C>T (p.Ser272Leu)
|
rs1803440876
|
|
|
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
|
rs770133920
|
|
|
NM_000639.3(FASLG):c.576_587del (p.Ser193_Tyr196del)
|
rs2527597483
|
|
|
NM_000642.3(AGL):c.1735G>C (p.Glu579Gln)
|
rs2524637310
|
|
|
NM_000642.3(AGL):c.3757C>T (p.Arg1253Cys)
|
rs375531470
|
|
|
NM_000682.7(ADRA2B):c.1058G>A (p.Gly353Asp)
|
rs2467052404
|
|
|
NM_000682.7(ADRA2B):c.202T>A (p.Phe68Ile)
|
rs191996571
|
|
|
NM_000682.7(ADRA2B):c.293C>A (p.Ser98Ter)
|
rs368204339
|
|
|
NM_000686.5(AGTR2):c.236C>G (p.Ser79Cys)
|
rs782664096
|
|
|
NM_000686.5(AGTR2):c.402dup (p.Ile135fs)
|
rs387906503
|
|
|
NM_000686.5(AGTR2):c.411C>A (p.Cys137Ter)
|
rs2520574471
|
|
|
NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)
|
rs1050611362
|
|
|
NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)
|
rs2515174222
|
|
|
NM_000701.8(ATP1A1):c.2956A>G (p.Thr986Ala)
|
rs2525907436
|
|
|
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg)
|
rs121918620
|
|
|
NM_000702.4(ATP1A2):c.1631G>T (p.Gly544Val)
|
rs1651730758
|
|
|
NM_000702.4(ATP1A2):c.1730C>T (p.Thr577Met)
|
rs747886840
|
|
|
NM_000702.4(ATP1A2):c.2056G>A (p.Val686Ile)
|
rs780606939
|
|
|
NM_000702.4(ATP1A2):c.2611G>A (p.Ala871Thr)
|
rs2524891031
|
|
|
NM_000702.4(ATP1A2):c.2743T>G (p.Cys915Gly)
|
rs2524891943
|
|
|
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)
|
rs1570987954
|
|
|
NM_000718.4(CACNA1B):c.1708A>G (p.Ser570Gly)
|
rs2539292252
|
|
|
NM_000718.4(CACNA1B):c.2639G>A (p.Gly880Asp)
|
rs1589074903
|
|
|
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met)
|
rs550100275
|
|
|
NM_000718.4(CACNA1B):c.2966A>G (p.His989Arg)
|
rs2133439486
|
|
|
NM_000718.4(CACNA1B):c.3804C>A (p.Leu1268=)
|
rs759936877
|
|
|
NM_000718.4(CACNA1B):c.5560G>A (p.Val1854Ile)
|
rs148799345
|
|
|
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg)
|
rs2511243350
|
|
|
NM_000719.7(CACNA1C):c.2530+1G>A
|
rs2515538483
|
|
|
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr)
|
rs2518048092
|
|
|
NM_000719.7(CACNA1C):c.3977C>T (p.Thr1326Ile)
|
rs2527681011
|
|
|
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)
|
rs786205744
|
|
|
NM_000720.4(CACNA1D):c.1536G>C (p.Trp512Cys)
|
rs1350533745
|
|
|
NM_000726.5(CACNB4):c.164A>G (p.Tyr55Cys)
|
rs2552286731
|
|
|
NM_000732.6(CD3D):c.236A>G (p.Tyr79Cys)
|
rs2496872150
|
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
|
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)
|
rs754810220
|
|
|
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
|
rs750040287
|
|
|
NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr)
|
rs753598324
|
|
|
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
|
rs777502524
|
|
|
NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)
|
rs1327751983
|
|
|
NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)
|
rs2068554918
|
|
|
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)
|
rs1064794327
|
|
|
NM_000747.3(CHRNB1):c.1110G>A (p.Met370Ile)
|
rs759408729
|
|
|
NM_000747.3(CHRNB1):c.1331C>G (p.Ala444Gly)
|
rs771205265
|
|
|
NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)
|
rs1908558301
|
|
|
NM_000747.3(CHRNB1):c.1364C>A (p.Ala455Glu)
|
rs777159945
|
|
|
NM_000747.3(CHRNB1):c.199-2A>C
|
rs200648690
|
|
|
NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)
|
rs1250653617
|
|
|
NM_000747.3(CHRNB1):c.428C>A (p.Pro143His)
|
rs2507854391
|
|
|
NM_000747.3(CHRNB1):c.58+1G>C
|
rs1173532574
|
|
|
NM_000747.3(CHRNB1):c.621G>A (p.Gln207=)
|
rs1908755889
|
|
|
NM_000747.3(CHRNB1):c.825G>T (p.Glu275Asp)
|
rs1420591225
|
|
|
NM_000747.3(CHRNB1):c.950T>A (p.Val317Asp)
|
rs1908998098
|
|
|
NM_000747.3(CHRNB1):c.956T>C (p.Val319Ala)
|
rs1908998622
|
|
|
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)
|
rs560427247
|
|
|
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
|
rs1290138573
|
|
|
NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)
|
rs761316238
|
|
|
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
|
rs1410941796
|
|
|
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
|
rs138405676
|
|
|
NM_000751.3(CHRND):c.1236G>T (p.Arg412Ser)
|
rs1691806503
|
|
|
NM_000751.3(CHRND):c.1347G>A (p.Met449Ile)
|
rs2469735307
|
|
|
NM_000751.3(CHRND):c.1366A>T (p.Asn456Tyr)
|
rs2469735396
|
|
|
NM_000751.3(CHRND):c.27G>C (p.Gly9=)
|
rs554645326
|
|
|
NM_000751.3(CHRND):c.497C>T (p.Ser166Phe)
|
rs528286132
|
|
|
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
|
rs748125160
|
|
|
NM_000751.3(CHRND):c.656G>T (p.Arg219Met)
|
rs2469723224
|
|
|
NM_000751.3(CHRND):c.72G>C (p.Glu24Asp)
|
rs2469713435
|
|
|
NM_000751.3(CHRND):c.95T>C (p.Leu32Pro)
|
rs2469713507
|
|
|
NM_000755.5(CRAT):c.654_655del (p.His218fs)
|
rs1221191274
|
|
|
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter)
|
rs1650332196
|
|
|
NM_000782.5(CYP24A1):c.366G>T (p.Glu122Asp)
|
rs2092699389
|
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
|
NM_000789.4(ACE):c.991A>G (p.Thr331Ala)
|
rs2510687476
|
|
|
NM_000797.4(DRD4):c.793_840del (p.Pro265_Pro280del)
|
rs1429763859
|
|
|
NM_000799.4(EPO):c.14-1G>C
|
rs2486360988
|
|
|
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)
|
rs1560442716
|
|
|
NM_000807.4(GABRA2):c.1118A>G (p.Asn373Ser)
|
rs1175283561
|
|
|
NM_000807.4(GABRA2):c.1174A>G (p.Thr392Ala)
|
rs1405947553
|
|
|
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
|
rs2475296530
|
|
|
NM_000810.4(GABRA5):c.74C>G (p.Ser25Cys)
|
rs751390334
|
|
|
NM_000810.4(GABRA5):c.983_988del (p.Tyr328_Ala329del)
|
rs2504358877
|
|
|
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser)
|
rs775749394
|
|
|
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln)
|
rs369581041
|
|
|
NM_000815.5(GABRD):c.806_808del (p.Phe269del)
|
rs1478441921
|
|
|
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)
|
rs28371561
|
|
|
NM_000827.4(GRIA1):c.1157A>G (p.Asp386Gly)
|
rs1292697012
|
|
|
NM_000827.4(GRIA1):c.1496G>A (p.Arg499Gln)
|
rs1758846316
|
|
|
NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)
|
rs2521333845
|
|
|
NM_000829.4(GRIA4):c.1994C>G (p.Thr665Arg)
|
rs2497929751
|
|
|
NM_000829.4(GRIA4):c.2600T>A (p.Val867Glu)
|
rs1055281802
|
|
|
NM_000829.4(GRIA4):c.385C>G (p.Gln129Glu)
|
rs2497083926
|
|
|
NM_000834.5(GRIN2B):c.1427A>G (p.Tyr476Cys)
|
rs2497599638
|
|
|
NM_000834.5(GRIN2B):c.1705G>A (p.Val569Ile)
|
rs1293991066
|
|
|
NM_000834.5(GRIN2B):c.200G>A (p.Arg67Gln)
|
rs759714224
|
|
|
NM_000834.5(GRIN2B):c.2311G>C (p.Gly771Arg)
|
rs2497482045
|
|
|
NM_000834.5(GRIN2B):c.2487G>A (p.Met829Ile)
|
rs2497475975
|
|
|
NM_000834.5(GRIN2B):c.3326A>G (p.Tyr1109Cys)
|
rs1948594046
|
|
|
NM_000834.5(GRIN2B):c.3329G>A (p.Arg1110His)
|
rs1271239566
|
|
|
NM_000834.5(GRIN2B):c.3372G>A (p.Arg1124=)
|
rs201565146
|
|
|
NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu)
|
rs765133670
|
|
|
NM_000834.5(GRIN2B):c.4244C>G (p.Ser1415Trp)
|
rs201463390
|
|
|
NM_000834.5(GRIN2B):c.4374CAA[1] (p.Asn1459del)
|
rs2497464379
|
|
|
NM_000834.5(GRIN2B):c.4409A>G (p.Asn1470Ser)
|
rs201145829
|
|
|
NM_000834.5(GRIN2B):c.544T>G (p.Phe182Val)
|
rs2497778173
|
|
|
NM_000834.5(GRIN2B):c.805G>C (p.Val269Leu)
|
rs1391619613
|
|
|
NM_000834.5(GRIN2B):c.857A>G (p.Asp286Gly)
|
rs1455642499
|
|
|
NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)
|
rs1383833874
|
|
|
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
|
rs2513691816
|
|
|
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
|
rs2513691992
|
|
|
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
|
rs2513692278
|
|
|
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
|
rs2513692787
|
|
|
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
|
rs2513693262
|
|
|
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
|
rs2513694394
|
|
|
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu)
|
rs544435291
|
|
|
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup)
|
rs919633142
|
|
|
NM_000844.4(GRM7):c.760G>C (p.Val254Leu)
|
rs368787807
|
|
|
NM_000869.6(HTR3A):c.681del (p.Tyr228fs)
|
rs2548039787
|
|
|
NM_000875.5(IGF1R):c.2653T>C (p.Tyr885His)
|
rs2506039595
|
|
|
NM_000875.5(IGF1R):c.3469A>G (p.Thr1157Ala)
|
rs2506077521
|
|
|
NM_000875.5(IGF1R):c.3952G>A (p.Asp1318Asn)
|
rs138696883
|
|
|
NM_000875.5(IGF1R):c.4087C>T (p.Gln1363Ter)
|
rs1483167529
|
|
|
NM_000875.5(IGF1R):c.628C>T (p.Arg210Cys)
|
rs1345546886
|
|
|
NM_000878.5(IL2RB):c.203+1G>A
|
rs2517844908
|
|
|
NM_000890.5(KCNJ5):c.978_979insC (p.Val327fs)
|
rs2497733279
|
|
|
NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)
|
rs773104539
|
|
|
NM_000921.5(PDE3A):c.507G>T (p.Gly169=)
|
rs144296189
|
|
|
NM_000937.5(POLR2A):c.3392C>G (p.Ser1131Cys)
|
rs2508170331
|
|
|
NM_000937.5(POLR2A):c.3813+3A>G
|
rs772922585
|
|
|
NM_000937.5(POLR2A):c.3869C>G (p.Ser1290Cys)
|
rs775319520
|
|
|
NM_000937.5(POLR2A):c.69C>G (p.Phe23Leu)
|
rs769761900
|
|
|
NM_000944.5(PPP3CA):c.1082-10CT[2]
|
rs2476259326
|
|
|
NM_000944.5(PPP3CA):c.1208T>C (p.Ile403Thr)
|
rs2476224462
|
|
|
NM_000944.5(PPP3CA):c.1445_1447dup (p.Arg482_Met483insArg)
|
rs2476197423
|
|
|
NM_000944.5(PPP3CA):c.16G>A (p.Ala6Thr)
|
rs770314812
|
|
|
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
|
rs1231286148
|
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
rs1336022942
|
|
|
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
|
rs2524447810
|
|
|
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)
|
rs2523398326
|
|
|
NM_000996.4(RPL35A):c.-32-2A>T
|
rs772862460
|
|
|
NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)
|
rs2530414326
|
|
|
NM_001001344.3(ATP2B3):c.1810A>T (p.Ile604Phe)
|
rs2521601641
|
|
|
NM_001001344.3(ATP2B3):c.188_197delinsAGACTT (p.Leu63fs)
|
rs2521443534
|
|
|
NM_001001548.3(CD36):c.379_381dup (p.Ser127_Val128insSer)
|
rs753791074
|
|
|
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
|
rs773680156
|
|
|
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
|
rs1402000896
|
|
|
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
|
rs2534719883
|
|
|
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
|
rs2534703952
|
|
|
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
|
rs764425544
|
|
|
NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)
|
rs924607422
|
|
|
NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)
|
rs2534679627
|
|
|
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
|
rs367937057
|
|
|
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)
|
rs2534660681
|
|
|
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
|
rs1588378117
|
|
|
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
|
rs1832792205
|
|
|
NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser)
|
rs2471472558
|
|
|
NM_001003694.2(BRPF1):c.1831C>T (p.Arg611Trp)
|
rs1177286410
|
|
|
NM_001003694.2(BRPF1):c.433A>G (p.Thr145Ala)
|
rs774092120
|
|
|
NM_001003722.2(GLE1):c.1211T>C (p.Phe404Ser)
|
rs2540607500
|
|
|
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu)
|
rs767226677
|
|
|
NM_001003800.2(BICD2):c.1168C>T (p.Leu390Phe)
|
rs192669216
|
|
|
NM_001003800.2(BICD2):c.2066A>G (p.Gln689Arg)
|
rs1554705339
|
|
|
NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del)
|
rs777900476
|
|
|
NM_001004320.2(AGMO):c.970G>T (p.Glu324Ter)
|
rs2534633693
|
|
|
NM_001004334.4(GPR179):c.1916G>A (p.Arg639Gln)
|
rs62073369
|
|
|
NM_001004334.4(GPR179):c.3092G>A (p.Arg1031Lys)
|
rs1597664128
|
|
|
NM_001004356.3(FGFRL1):c.1129_1130inv (p.Trp377Gln)
|
|
|
|
NM_001004356.3(FGFRL1):c.929A>C (p.Asp310Ala)
|
rs2534152677
|
|
|
NM_001005242.3(PKP2):c.1195A>C (p.Lys399Gln)
|
rs2541286962
|
|
|
NM_001005242.3(PKP2):c.2284A>T (p.Ser762Cys)
|
rs768677218
|
|
|
NM_001005242.3(PKP2):c.463A>G (p.Ser155Gly)
|
rs2541342135
|
|
|
NM_001005271.3(CHD3):c.250C>A (p.Pro84Thr)
|
rs1329540442
|
|
|
NM_001005273.3(CHD3):c.2096A>G (p.Lys699Arg)
|
rs2544904564
|
|
|
NM_001005273.3(CHD3):c.3561dup (p.Ala1188fs)
|
rs2545006841
|
|
|
NM_001005273.3(CHD3):c.3797G>A (p.Arg1266Gln)
|
rs2545017819
|
|
|
NM_001005273.3(CHD3):c.4117G>T (p.Asp1373Tyr)
|
rs2545045885
|
|
|
NM_001005273.3(CHD3):c.4604C>A (p.Thr1535Asn)
|
rs762974616
|
|
|
NM_001005273.3(CHD3):c.4786G>A (p.Glu1596Lys)
|
rs2545092785
|
|
|
NM_001005273.3(CHD3):c.4950G>T (p.Arg1650Ser)
|
rs375492899
|
|
|
NM_001005361.3(DNM2):c.1116T>A (p.Phe372Leu)
|
rs2513224522
|
|
|
NM_001005361.3(DNM2):c.1196+704T>C
|
rs1409309807
|
|
|
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)
|
rs1555711301
|
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
|
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315
|
|
|
NM_001005361.3(DNM2):c.1925C>A (p.Thr642Asn)
|
rs1599631018
|
|
|
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
|
rs1056840783
|
|
|
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del)
|
rs1599643472
|
|
|
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117
|
|
|
NM_001005361.3(DNM2):c.2588dup (p.Ala864fs)
|
rs2513383215
|
|
|
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
|
rs1703984974
|
|
|
NM_001005361.3(DNM2):c.2610C>G (p.Asp870Glu)
|
rs2073334218
|
|
|
NM_001005361.3(DNM2):c.304G>A (p.Glu102Lys)
|
rs2513139822
|
|
|
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu)
|
rs1366173686
|
|
|
NM_001005361.3(DNM2):c.44A>G (p.Lys15Arg)
|
rs2068819118
|
|
|
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)
|
rs757708760
|
|
|
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
|
rs1194220078
|
|
|
NM_001005361.3(DNM2):c.577G>T (p.Val193Phe)
|
rs2145924827
|
|
|
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser)
|
rs757892950
|
|
|
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
|
rs2071429877
|
|
|
NM_001005361.3(DNM2):c.757G>T (p.Ala253Ser)
|
rs2513182990
|
|
|
NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)
|
rs145607989
|
|
|
NM_001005373.4(LRSAM1):c.764A>T (p.Asp255Val)
|
rs2539382089
|
|
|
NM_001005388.3(NFASC):c.1673T>A (p.Leu558Gln)
|
rs2548539307
|
|
|
NM_001006658.3(CR2):c.2997G>T (p.Glu999Asp)
|
rs2527233612
|
|
|
NM_001007228.2(SPOP):c.548A>C (p.Glu183Ala)
|
rs2543814297
|
|
|
NM_001007228.2(SPOP):c.582G>T (p.Trp194Cys)
|
rs2543814136
|
|
|
NM_001007527.2(LMBRD2):c.895A>G (p.Ile299Val)
|
rs377639364
|
|
|
NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)
|
rs2519915780
|
|
|
NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)
|
rs1395034531
|
|
|
NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)
|
rs752979291
|
|
|
NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)
|
rs2080110046
|
|
|
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp)
|
rs1556016488
|
|
|
NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)
|
rs2519914073
|
|
|
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
|
rs374471570
|
|
|
NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)
|
rs2519916052
|
|
|
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
|
rs2544853623
|
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
|
NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr)
|
rs372681617
|
|
|
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter)
|
rs1163930676
|
|
|
NM_001009999.3(KDM1A):c.1837G>A (p.Ala613Thr)
|
rs2522780908
|
|
|
NM_001009999.3(KDM1A):c.541G>C (p.Asp181His)
|
rs370820052
|
|
|
NM_001010867.4(IBA57):c.212T>C (p.Leu71Pro)
|
rs2527900743
|
|
|
NM_001010867.4(IBA57):c.578G>T (p.Arg193Leu)
|
rs1376244621
|
|
|
NM_001011.4(RPS7):c.-19+1del
|
rs2528176268
|
|
|
NM_001011.4(RPS7):c.-19G>C
|
rs2528176265
|
|
|
NM_001011.4(RPS7):c.508G>T (p.Val170Phe)
|
rs768225488
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
rs758369264
|
|
|
NM_001011547.3(SLC5A9):c.710G>A (p.Trp237Ter)
|
rs1644254177
|
|
|
NM_001011658.4(TRAPPC2):c.351del (p.Asn118fs)
|
rs2518605251
|
|
|
NM_001012614.2(CTBP1):c.1075G>A (p.Val359Met)
|
rs7687296
|
|
|
NM_001012614.2(CTBP1):c.411G>C (p.Gln137His)
|
rs1359438837
|
|
|
NM_001012614.2(CTBP1):c.68A>G (p.Asp23Gly)
|
rs2535199952
|
|
|
NM_001012759.3(CTU2):c.550C>T (p.Gln184Ter)
|
rs754150426
|
|
|
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)
|
rs200219135
|
|
|
NM_001013838.3(CARMIL2):c.323C>G (p.Ala108Gly)
|
rs2543532412
|
|
|
NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)
|
rs2543578112
|
|
|
NM_001014447.3(CPZ):c.1674C>G (p.Tyr558Ter)
|
rs142996350
|
|
|
NM_001017420.3(ESCO2):c.1356AGA[1] (p.Glu453del)
|
rs2486665470
|
|
|
NM_001018005.2(TPM1):c.154G>A (p.Gly52Ser)
|
rs730881127
|
|
|
NM_001018005.2(TPM1):c.792A>T (p.Lys264Asn)
|
rs2542882773
|
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
|
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
|
rs2092363086
|
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
|
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
|
rs2125012009
|
|
|
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
|
rs2469955551
|
|
|
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
|
rs1454706945
|
|
|
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
|
rs1428979499
|
|
|
NM_001025616.3(ARHGAP24):c.277C>T (p.Arg93Ter)
|
rs2148811777
|
|
|
NM_001029.5(RPS26):c.3+5G>C
|
rs2540722455
|
|
|
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
|
rs2540724191
|
|
|
NM_001029883.3(PCARE):c.862C>T (p.Leu288Phe)
|
rs1667528945
|
|
|
NM_001029896.2(WDR45):c.364C>G (p.Arg122Gly)
|
rs782643042
|
|
|
NM_001029998.6(SLC10A7):c.291C>G (p.Ile97Met)
|
rs2547569717
|
|
|
NM_001031689.3(PLAA):c.1036C>A (p.Pro346Thr)
|
rs776803428
|
|
|
NM_001031689.3(PLAA):c.1068C>G (p.Ile356Met)
|
rs372992154
|
|
|
NM_001031689.3(PLAA):c.1957_1958delinsAT (p.Pro653Ile)
|
rs2489157116
|
|
|
NM_001031710.3(KLHL7):c.10T>G (p.Ser4Ala)
|
rs755687208
|
|
|
NM_001031710.3(KLHL7):c.14G>T (p.Gly5Val)
|
rs1057464852
|
|
|
NM_001031710.3(KLHL7):c.350T>C (p.Leu117Ser)
|
rs2534811527
|
|
|
NM_001031727.4(MRI1):c.363_371+2del
|
rs747238951
|
|
|
NM_001031727.4(MRI1):c.722C>G (p.Ser241Ter)
|
rs2512619152
|
|
|
NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)
|
rs2538552880
|
|
|
NM_001032221.6(STXBP1):c.10A>G (p.Ile4Val)
|
rs2539639296
|
|
|
NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)
|
rs2538612965
|
|
|
NM_001032221.6(STXBP1):c.2T>A (p.Met1Lys)
|
rs2539639191
|
|
|
NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)
|
rs2539809715
|
|
|
NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)
|
rs2539816476
|
|
|
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
|
rs375972545
|
|
|
NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys)
|
rs2492078995
|
|
|
NM_001035.3(RYR2):c.10757T>C (p.Val3586Ala)
|
rs2526998785
|
|
|
NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln)
|
rs2527787768
|
|
|
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)
|
rs794728792
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
|
NM_001035.3(RYR2):c.13583T>C (p.Val4528Ala)
|
rs1451756883
|
|
|
NM_001035.3(RYR2):c.13655A>T (p.His4552Leu)
|
rs768299786
|
|
|
NM_001035.3(RYR2):c.14178G>A (p.Met4726Ile)
|
rs2528137055
|
|
|
NM_001035.3(RYR2):c.2029T>G (p.Leu677Val)
|
rs750815004
|
|
|
NM_001035.3(RYR2):c.3704G>C (p.Gly1235Ala)
|
rs765263326
|
|
|
NM_001035.3(RYR2):c.3712C>T (p.Pro1238Ser)
|
rs1572995959
|
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.6559A>T (p.Ile2187Phe)
|
rs2546926433
|
|
|
NM_001035.3(RYR2):c.9054G>T (p.Arg3018Ser)
|
rs2547284123
|
|
|
NM_001035.3(RYR2):c.9059C>A (p.Ser3020Ter)
|
rs2547284159
|
|
|
NM_001036.6(RYR3):c.11914G>T (p.Asp3972Tyr)
|
rs924245334
|
|
|
NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)
|
rs375998723
|
|
|
NM_001037.5(SCN1B):c.215G>A (p.Arg72His)
|
rs770751961
|
|
|
NM_001037132.4(NRCAM):c.2581T>G (p.Leu861Val)
|
rs867372071
|
|
|
NM_001037132.4(NRCAM):c.362A>T (p.Tyr121Phe)
|
rs2094442812
|
|
|
NM_001037333.3(CYFIP2):c.1493C>T (p.Ala498Val)
|
rs753188984
|
|
|
NM_001037333.3(CYFIP2):c.2065G>A (p.Glu689Lys)
|
rs2532422719
|
|
|
NM_001037333.3(CYFIP2):c.2773A>G (p.Ile925Val)
|
rs2532568701
|
|
|
NM_001037333.3(CYFIP2):c.3133C>T (p.Arg1045Trp)
|
rs764928113
|
|
|
NM_001038603.3(MARVELD2):c.1554+286T>C
|
rs971685531
|
|
|
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)
|
rs1924041789
|
|
|
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)
|
rs751067115
|
|
|
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)
|
rs183811513
|
|
|
NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)
|
rs376340052
|
|
|
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)
|
rs2145831991
|
|
|
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp)
|
rs756065296
|
|
|
NM_001039569.2(AP1S3):c.28C>T (p.Arg10Ter)
|
rs1372202707
|
|
|
NM_001039591.3(USP9X):c.1668A>G (p.Ile556Met)
|
rs2519164646
|
|
|
NM_001039591.3(USP9X):c.2878-3C>T
|
rs2519226817
|
|
|
NM_001039591.3(USP9X):c.3175G>A (p.Ala1059Thr)
|
rs774649513
|
|
|
NM_001039591.3(USP9X):c.3529G>A (p.Gly1177Ser)
|
rs763319467
|
|
|
NM_001039591.3(USP9X):c.3844G>C (p.Glu1282Gln)
|
rs2062910645
|
|
|
NM_001039591.3(USP9X):c.6355C>T (p.Leu2119Phe)
|
rs2519379827
|
|
|
NM_001039591.3(USP9X):c.7431+9dup
|
rs774054468
|
|
|
NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)
|
rs1697567984
|
|
|
NM_001040142.2(SCN2A):c.1396_1401dup (p.Ala466_Ala467dup)
|
rs754615123
|
|
|
NM_001040142.2(SCN2A):c.1907C>T (p.Pro636Leu)
|
rs2467934164
|
|
|
NM_001040142.2(SCN2A):c.2617A>C (p.Ile873Leu)
|
rs2468007351
|
|
|
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)
|
rs1699477928
|
|
|
NM_001040142.2(SCN2A):c.2654_2671del (p.Thr885_Ile890del)
|
rs2468007487
|
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
|
NM_001040142.2(SCN2A):c.2779G>T (p.Asp927Tyr)
|
rs2468008136
|
|
|
NM_001040142.2(SCN2A):c.3285T>A (p.Phe1095Leu)
|
rs2468036603
|
|
|
NM_001040142.2(SCN2A):c.3524G>A (p.Cys1175Tyr)
|
rs2468069922
|
|
|
NM_001040142.2(SCN2A):c.3719C>T (p.Thr1240Ile)
|
rs2105365169
|
|
|
NM_001040142.2(SCN2A):c.4160A>G (p.Lys1387Arg)
|
rs2468102742
|
|
|
NM_001040142.2(SCN2A):c.4693T>A (p.Trp1565Arg)
|
rs1701902994
|
|
|
NM_001040142.2(SCN2A):c.4705G>A (p.Val1569Met)
|
rs2468149841
|
|
|
NM_001040142.2(SCN2A):c.710T>G (p.Ile237Ser)
|
rs1697360061
|
|
|
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
|
rs762786998
|
|
|
NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)
|
rs2549193971
|
|
|
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
|
rs2495708213
|
|
|
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
|
rs759168945
|
|
|
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
|
rs138760063
|
|
|
NM_001040716.2(PC):c.2223+4C>A
|
rs769814576
|
|
|
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
|
rs2495426555
|
|
|
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
|
rs751998175
|
|
|
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
|
rs2495423999
|
|
|
NM_001042413.2(GLIS3):c.1033C>T (p.Pro345Ser)
|
rs2489963234
|
|
|
NM_001042424.3(NSD2):c.3918G>T (p.Glu1306Asp)
|
rs1402618515
|
|
|
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val)
|
rs2145936237
|
|
|
NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)
|
rs2534124737
|
|
|
NM_001042475.3(CEP85L):c.1590+3A>T
|
rs1401607093
|
|
|
NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)
|
rs755513985
|
|
|
NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)
|
rs2533740355
|
|
|
NM_001042475.3(CEP85L):c.451del (p.Arg151fs)
|
rs2534375604
|
|
|
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg)
|
rs2151432404
|
|
|
NM_001042492.3(NF1):c.415T>G (p.Ser139Ala)
|
rs1555606096
|
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
|
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)
|
rs1555534708
|
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
|
NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)
|
rs1438546206
|
|
|
NM_001042646.3(TRAK1):c.2774G>T (p.Gly925Val)
|
rs2473226029
|
|
|
NM_001042681.2(RERE):c.1934_1936del (p.Lys645del)
|
rs763376652
|
|
|
NM_001042681.2(RERE):c.2285C>T (p.Pro762Leu)
|
rs1641565307
|
|
|
NM_001042681.2(RERE):c.2336_2347dup (p.Ser782_Gln783insProThrAlaSer)
|
rs2522719871
|
|
|
NM_001042681.2(RERE):c.3379G>A (p.Ala1127Thr)
|
rs538629961
|
|
|
NM_001042681.2(RERE):c.33_38del (p.Glu12_Lys13del)
|
rs1638294111
|
|
|
NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp)
|
rs1178020687
|
|
|
NM_001042681.2(RERE):c.3481A>G (p.Lys1161Glu)
|
rs2522707176
|
|
|
NM_001042681.2(RERE):c.3914G>A (p.Arg1305Gln)
|
rs1168321610
|
|
|
NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)
|
rs1204145966
|
|
|
NM_001042681.2(RERE):c.4331T>G (p.Leu1444Arg)
|
rs2522692207
|
|
|
NM_001042681.2(RERE):c.4399C>G (p.Arg1467Gly)
|
rs1474891926
|
|
|
NM_001042681.2(RERE):c.4412C>T (p.Pro1471Leu)
|
rs768690444
|
|
|
NM_001042750.2(STAG2):c.1975G>A (p.Asp659Asn)
|
rs2148327151
|
|
|
NM_001042750.2(STAG2):c.3275T>A (p.Leu1092His)
|
rs2148467483
|
|
|
NM_001046.3(SLC12A2):c.288GGC[13] (p.Ala107_Gly108insAlaAlaAlaAlaAlaAla)
|
rs746633185
|
|
|
NM_001046.3(SLC12A2):c.309_311del (p.Ala107del)
|
rs1759966445
|
|
|
NM_001046.3(SLC12A2):c.3627del (p.Phe1210fs)
|
rs2479504095
|
|
|
NM_001048166.1(STIL):c.1011A>C (p.Leu337Phe)
|
rs2524522591
|
|
|
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)
|
rs587784448
|
|
|
NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)
|
rs746522203
|
|
|
NM_001048166.1(STIL):c.417A>G (p.Ile139Met)
|
rs1645806575
|
|
|
NM_001048174.2(MUTYH):c.1264A>G (p.Lys422Glu)
|
rs1644794654
|
|
|
NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp)
|
rs1645363196
|
|
|
NM_001048174.2(MUTYH):c.383G>T (p.Trp128Leu)
|
rs762307622
|
|
|
NM_001065.4(TNFRSF1A):c.112G>C (p.Glu38Gln)
|
rs2497801346
|
|
|
NM_001070.5(TUBG1):c.1136C>G (p.Ala379Gly)
|
rs2052062604
|
|
|
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del)
|
rs992225807
|
|
|
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
|
rs759212295
|
|
|
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
|
rs2542856014
|
|
|
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln)
|
rs35242383
|
|
|
NM_001077365.2(POMT1):c.1343T>G (p.Val448Gly)
|
rs1295579616
|
|
|
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4])
|
rs727502853
|
|
|
NM_001077365.2(POMT1):c.1535T>C (p.Val512Ala)
|
rs2539397175
|
|
|
NM_001077365.2(POMT1):c.1669A>G (p.Ile557Val)
|
rs2539418797
|
|
|
NM_001077365.2(POMT1):c.1760T>C (p.Ile587Thr)
|
rs2539452716
|
|
|
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)
|
rs753485021
|
|
|
NM_001077365.2(POMT1):c.2080C>G (p.Leu694Val)
|
rs1248141388
|
|
|
NM_001077365.2(POMT1):c.2087C>G (p.Pro696Arg)
|
rs886044354
|
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
|
NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)
|
rs750196110
|
|
|
NM_001077365.2(POMT1):c.449C>T (p.Ser150Leu)
|
rs2539112570
|
|
|
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
|
rs1054239530
|
|
|
NM_001077365.2(POMT1):c.699+64G>C
|
rs746958804
|
|
|
NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)
|
rs1053538899
|
|
|
NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)
|
rs2539021423
|
|
|
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)
|
rs759734493
|
|
|
NM_001077365.2(POMT1):c.827T>C (p.Met276Thr)
|
rs2539149390
|
|
|
NM_001077365.2(POMT1):c.889C>G (p.Leu297Val)
|
rs377758565
|
|
|
NM_001077365.2(POMT1):c.901_909del (p.Phe301_Ser303del)
|
rs2539177590
|
|
|
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)
|
rs757984572
|
|
|
NM_001077415.3(CRELD1):c.430C>G (p.Pro144Ala)
|
rs1456816694
|
|
|
NM_001077415.3(CRELD1):c.566del (p.Gly189fs)
|
rs1559337563
|
|
|
NM_001077525.3(MTMR14):c.1789C>T (p.Arg597Ter)
|
rs929541502
|
|
|
NM_001077525.3(MTMR14):c.1879G>A (p.Gly627Ser)
|
rs190345299
|
|
|
NM_001077525.3(MTMR14):c.241A>C (p.Ile81Leu)
|
rs2470172055
|
|
|
NM_001077525.3(MTMR14):c.482A>C (p.Tyr161Ser)
|
rs200189498
|
|
|
NM_001077525.3(MTMR14):c.814T>G (p.Trp272Gly)
|
rs2470753580
|
|
|
NM_001077525.3(MTMR14):c.83_100dup (p.Leu33_Glu34insGlyLeuGlyGluLeuLeu)
|
rs1559549033
|
|
|
NM_001079668.3(NKX2-1):c.-2C>A
|
rs530304913
|
|
|
NM_001079668.3(NKX2-1):c.358A>C (p.Asn120His)
|
rs2502635036
|
|
|
NM_001079802.2(FKTN):c.-1_2del (p.Met1del)
|
rs1180986256
|
|
|
NM_001079802.2(FKTN):c.109G>A (p.Gly37Arg)
|
rs773884973
|
|
|
NM_001079802.2(FKTN):c.1224G>C (p.Lys408Asn)
|
rs200091271
|
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
|
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile)
|
rs1060501407
|
|
|
NM_001079802.2(FKTN):c.22G>A (p.Val8Met)
|
rs368981218
|
|
|
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)
|
rs368981218
|
|
|
NM_001079802.2(FKTN):c.235A>G (p.Ile79Val)
|
rs1411837740
|
|
|
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)
|
rs376452959
|
|
|
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)
|
rs142783718
|
|
|
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val)
|
rs886044482
|
|
|
NM_001079802.2(FKTN):c.484T>C (p.Tyr162His)
|
rs1288151592
|
|
|
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val)
|
rs1554731003
|
|
|
NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del)
|
rs1437925297
|
|
|
NM_001079802.2(FKTN):c.74_75delinsAT (p.Leu25Tyr)
|
rs2538818045
|
|
|
NM_001079802.2(FKTN):c.757A>G (p.Lys253Glu)
|
rs886044467
|
|
|
NM_001079802.2(FKTN):c.875G>C (p.Gly292Ala)
|
rs781664273
|
|
|
NM_001079802.2(FKTN):c.902C>A (p.Thr301Asn)
|
rs2539658905
|
|
|
NM_001079872.2(CUL4B):c.1852+3A>G
|
rs2521089667
|
|
|
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)
|
rs2521123668
|
|
|
NM_001080.3(ALDH5A1):c.1015-3C>G
|
rs2127387935
|
|
|
NM_001080.3(ALDH5A1):c.341A>C (p.Glu114Ala)
|
rs1370936799
|
|
|
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val)
|
rs1581818516
|
|
|
NM_001080414.4(CCDC88C):c.2429A>C (p.Asn810Thr)
|
rs367893633
|
|
|
NM_001080414.4(CCDC88C):c.4849C>A (p.Pro1617Thr)
|
rs778550554
|
|
|
NM_001080414.4(CCDC88C):c.5668C>A (p.Pro1890Thr)
|
rs766949856
|
|
|
NM_001080414.4(CCDC88C):c.5924_5925del (p.Glu1975fs)
|
rs2544237289
|
|
|
NM_001080421.3(UNC13A):c.5110_*31del (p.Ter1704AlaextTer?)
|
rs2512937209
|
|
|
NM_001080432.3(FTO):c.1162C>T (p.Arg388Ter)
|
rs746048206
|
|
|
NM_001080442.3(SLC38A8):c.589C>T (p.Leu197Phe)
|
rs763037826
|
|
|
NM_001080449.3(DNA2):c.1220+2T>C
|
rs2133402353
|
|
|
NM_001080449.3(DNA2):c.1388A>G (p.Asn463Ser)
|
rs2493954172
|
|
|
NM_001080449.3(DNA2):c.258-1G>T
|
rs2133449932
|
|
|
NM_001080449.3(DNA2):c.3084G>T (p.Lys1028Asn)
|
rs1231074165
|
|
|
NM_001080449.3(DNA2):c.731dup (p.Asn244fs)
|
rs2493973822
|
|
|
NM_001080453.3(INTS1):c.3950-9T>C
|
rs1231668143
|
|
|
NM_001080453.3(INTS1):c.4939-6C>G
|
rs2483309839
|
|
|
NM_001080453.3(INTS1):c.5467C>T (p.His1823Tyr)
|
rs2483305847
|
|
|
NM_001080453.3(INTS1):c.6C>G (p.Asn2Lys)
|
rs1189026381
|
|
|
NM_001080477.4(TENM3):c.7964A>G (p.Lys2655Arg)
|
rs2532598151
|
|
|
NM_001080508.3(TBX18):c.14G>A (p.Arg5Gln)
|
rs1767751440
|
|
|
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)
|
rs1553621798
|
|
|
NM_001080517.3(SETD5):c.2346+3A>G
|
rs2042277820
|
|
|
NM_001080517.3(SETD5):c.2641T>A (p.Cys881Ser)
|
rs751126273
|
|
|
NM_001080517.3(SETD5):c.3647A>G (p.Glu1216Gly)
|
rs1131691446
|
|
|
NM_001081.4(CUBN):c.4759G>A (p.Ala1587Thr)
|
rs1180746593
|
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
|
NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile)
|
rs2521042911
|
|
|
NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys)
|
rs1251933183
|
|
|
NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)
|
rs1483498582
|
|
|
NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His)
|
rs2520919257
|
|
|
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
|
rs1204822464
|
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
|
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)
|
rs754711256
|
|
|
NM_001083116.3(PRF1):c.1349C>A (p.Thr450Lys)
|
rs189650890
|
|
|
NM_001083116.3(PRF1):c.1390C>T (p.Arg464Trp)
|
rs754602851
|
|
|
NM_001083116.3(PRF1):c.352G>T (p.Ala118Ser)
|
rs2132478226
|
|
|
NM_001083116.3(PRF1):c.452A>T (p.His151Leu)
|
rs769775807
|
|
|
NM_001083614.2(EARS2):c.569G>A (p.Arg190His)
|
rs533072942
|
|
|
NM_001083619.3(GRIA2):c.14T>C (p.Met5Thr)
|
rs1368880258
|
|
|
NM_001083619.3(GRIA2):c.882+5G>C
|
rs2530691393
|
|
|
NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)
|
rs1300195129
|
|
|
NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)
|
rs2513631987
|
|
|
NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)
|
rs1196639536
|
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
|
NM_001083961.2(WDR62):c.423T>C (p.Asp141=)
|
rs1174425209
|
|
|
NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)
|
rs2513442196
|
|
|
NM_001083962.2(TCF4):c.1207_1208delinsAT (p.His403Ile)
|
rs2512111889
|
|
|
NM_001083962.2(TCF4):c.959C>T (p.Thr320Ile)
|
rs2512295159
|
|
|
NM_001084.5(PLOD3):c.1381A>C (p.Ile461Leu)
|
rs1798167426
|
|
|
NM_001085.5(SERPINA3):c.694T>G (p.Tyr232Asp)
|
rs1886106284
|
|
|
NM_001085411.3(NADK2):c.760A>G (p.Ile254Val)
|
rs200166166
|
|
|
NM_001089.3(ABCA3):c.2258A>C (p.Lys753Thr)
|
rs2505639735
|
|
|
NM_001089.3(ABCA3):c.2513+311del
|
rs528346746
|
|
|
NM_001089.3(ABCA3):c.3805G>C (p.Glu1269Gln)
|
rs776731355
|
|
|
NM_001091.4(AOC1):c.1819C>T (p.Pro607Ser)
|
rs2485907830
|
|
|
NM_001098511.3(KIF2A):c.1760+5A>G
|
rs2531378511
|
|
|
NM_001098816.3(TENM4):c.1471-9_1471-6del
|
rs1443535293
|
|
|
NM_001098816.3(TENM4):c.277G>A (p.Gly93Arg)
|
rs561431723
|
|
|
NM_001098816.3(TENM4):c.4981_4982del (p.Lys1661fs)
|
rs2497502314
|
|
|
NM_001099274.3(TINF2):c.1082T>C (p.Met361Thr)
|
rs1594550143
|
|
|
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs)
|
rs1566366182
|
|
|
NM_001099274.3(TINF2):c.851C>A (p.Thr284Lys)
|
rs2502455778
|
|
|
NM_001099922.3(ALG13):c.1154T>G (p.Ile385Ser)
|
rs2525743764
|
|
|
NM_001099922.3(ALG13):c.1655C>G (p.Pro552Arg)
|
rs779247249
|
|
|
NM_001099922.3(ALG13):c.1671G>T (p.Met557Ile)
|
rs770882260
|
|
|
NM_001099922.3(ALG13):c.1685G>C (p.Gly562Ala)
|
rs2525886393
|
|
|
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser)
|
rs1556516921
|
|
|
NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)
|
rs1934570209
|
|
|
NM_001099922.3(ALG13):c.527C>T (p.Thr176Ile)
|
rs2525561761
|
|
|
NM_001099922.3(ALG13):c.592A>G (p.Thr198Ala)
|
rs2525563575
|
|
|
NM_001099922.3(ALG13):c.770A>G (p.His257Arg)
|
rs2525580749
|
|
|
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)
|
rs1553255312
|
|
|
NM_001100.4(ACTA1):c.1049C>G (p.Ser350Trp)
|
rs2102735031
|
|
|
NM_001100.4(ACTA1):c.1055C>T (p.Ser352Phe)
|
rs2527435493
|
|
|
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)
|
rs1659934469
|
|
|
NM_001100.4(ACTA1):c.280A>C (p.Asn94His)
|
rs2527439205
|
|
|
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro)
|
rs1659973563
|
|
|
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)
|
rs398123563
|
|
|
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile)
|
rs2102735869
|
|
|
NM_001100.4(ACTA1):c.617-5C>A
|
rs199804338
|
|
|
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys)
|
rs1057521118
|
|
|
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
|
rs2527437251
|
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
|
NM_001100.4(ACTA1):c.811A>G (p.Met271Val)
|
rs1553255361
|
|
|
NM_001100.4(ACTA1):c.826_827delinsCC (p.Ile276Pro)
|
rs2527436372
|
|
|
NM_001100.4(ACTA1):c.875G>A (p.Arg292Lys)
|
rs2527436273
|
|
|
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)
|
rs878854374
|
|
|
NM_001100.4(ACTA1):c.975C>A (p.Ser325Arg)
|
rs2527436034
|
|
|
NM_001100913.3(PACS2):c.1237A>G (p.Lys413Glu)
|
rs2544799329
|
|
|
NM_001100913.3(PACS2):c.1454T>A (p.Leu485His)
|
rs2544810294
|
|
|
NM_001100913.3(PACS2):c.1927C>T (p.Gln643Ter)
|
rs1555413191
|
|
|
NM_001100913.3(PACS2):c.368A>C (p.Asn123Thr)
|
rs2544583702
|
|
|
NM_001100913.3(PACS2):c.371G>T (p.Arg124Ile)
|
rs2544583741
|
|
|
NM_001100913.3(PACS2):c.643G>A (p.Asp215Asn)
|
rs782729940
|
|
|
NM_001100913.3(PACS2):c.986C>G (p.Ser329Trp)
|
rs782807257
|
|
|
NM_001101.5(ACTB):c.1111C>T (p.His371Tyr)
|
rs2533845740
|
|
|
NM_001101.5(ACTB):c.140T>C (p.Met47Thr)
|
rs2533850525
|
|
|
NM_001101.5(ACTB):c.237G>A (p.Trp79Ter)
|
rs2533850292
|
|
|
NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)
|
rs2086979026
|
|
|
NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)
|
rs2506305037
|
|
|
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro)
|
rs777916743
|
|
|
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu)
|
rs1481658087
|
|
|
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs)
|
rs748327666
|
|
|
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys)
|
rs1293899823
|
|
|
NM_001101426.4(CRPPA):c.1037C>T (p.Ser346Phe)
|
rs2546639468
|
|
|
NM_001101426.4(CRPPA):c.1102C>G (p.Pro368Ala)
|
rs2546639359
|
|
|
NM_001101426.4(CRPPA):c.1119+3A>G
|
rs1783701192
|
|
|
NM_001101426.4(CRPPA):c.113C>T (p.Thr38Ile)
|
rs2546759097
|
|
|
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe)
|
rs931469039
|
|
|
NM_001101426.4(CRPPA):c.1252G>C (p.Asp418His)
|
rs1781843954
|
|
|
NM_001101426.4(CRPPA):c.235T>C (p.Tyr79His)
|
rs1788323318
|
|
|
NM_001101426.4(CRPPA):c.377G>T (p.Arg126Leu)
|
rs752817129
|
|
|
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val)
|
rs573488291
|
|
|
NM_001101426.4(CRPPA):c.524A>C (p.Lys175Thr)
|
rs1787945800
|
|
|
NM_001101426.4(CRPPA):c.597A>C (p.Leu199Phe)
|
rs1253464080
|
|
|
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg)
|
rs1583508021
|
|
|
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)
|
rs373890080
|
|
|
NM_001101426.4(CRPPA):c.979C>G (p.Leu327Val)
|
rs587780361
|
|
|
NM_001102564.3(IFT43):c.296-5661G>A
|
rs150373788
|
|
|
NM_001102564.3(IFT43):c.296-5686_296-5685del
|
rs750135817
|
|
|
NM_001102608.3(COL6A6):c.5587dup (p.Thr1863fs)
|
rs2473500241
|
|
|
NM_001103.4(ACTN2):c.1055T>A (p.Leu352Gln)
|
rs1392451735
|
|
|
NM_001103.4(ACTN2):c.1256-9C>G
|
rs2527614116
|
|
|
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)
|
rs199604590
|
|
|
NM_001103.4(ACTN2):c.2557_2569del (p.Glu853fs)
|
rs2527669691
|
|
|
NM_001103.4(ACTN2):c.980G>C (p.Arg327Pro)
|
rs554811924
|
|
|
NM_001103146.3(GIGYF2):c.1693A>G (p.Met565Val)
|
rs759254257
|
|
|
NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)
|
rs2479492185
|
|
|
NM_001104631.2(PDE4D):c.430C>T (p.Pro144Ser)
|
rs2534914374
|
|
|
NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)
|
rs2479492299
|
|
|
NM_001105206.3(LAMA4):c.1043G>T (p.Ser348Ile)
|
rs2547135524
|
|
|
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter)
|
rs2114895179
|
|
|
NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp)
|
rs782774293
|
|
|
NM_001105206.3(LAMA4):c.3968G>A (p.Arg1323Lys)
|
rs2546997827
|
|
|
NM_001109878.2(TBX22):c.548C>T (p.Pro183Leu)
|
rs2519858906
|
|
|
NM_001110.4(ADAM10):c.2026G>A (p.Ala676Thr)
|
rs2548806094
|
|
|
NM_001110.4(ADAM10):c.846T>A (p.Asp282Glu)
|
rs2548824179
|
|
|
NM_001110556.2(FLNA):c.1429G>C (p.Ala477Pro)
|
rs2148117564
|
|
|
NM_001110556.2(FLNA):c.1793T>G (p.Val598Gly)
|
rs2522755720
|
|
|
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)
|
rs782140888
|
|
|
NM_001110556.2(FLNA):c.2904C>A (p.Ser968Arg)
|
rs2522745768
|
|
|
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
|
rs2522771333
|
|
|
NM_001110556.2(FLNA):c.4889C>T (p.Ser1630Phe)
|
rs2522733358
|
|
|
NM_001110556.2(FLNA):c.5333T>A (p.Val1778Glu)
|
rs2148106810
|
|
|
NM_001110556.2(FLNA):c.5542A>G (p.Asn1848Asp)
|
rs2522726309
|
|
|
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
|
rs781999359
|
|
|
NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)
|
rs782504409
|
|
|
NM_001110556.2(FLNA):c.7168G>A (p.Val2390Met)
|
rs2067608382
|
|
|
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile)
|
rs878854463
|
|
|
NM_001110556.2(FLNA):c.900G>T (p.Lys300Asn)
|
rs2522762532
|
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
|
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln)
|
rs2148660984
|
|
|
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.1199_1203delinsTC (p.Pro400_Pro401delinsLeu)
|
rs2522053044
|
|
|
NM_001110792.2(MECP2):c.1315G>T (p.Asp439Tyr)
|
rs782217947
|
|
|
NM_001110792.2(MECP2):c.1450GAG[3] (p.Glu485_Pro486insGlu)
|
rs2522036046
|
|
|
NM_001110792.2(MECP2):c.248C>T (p.Ala83Val)
|
rs1557137874
|
|
|
NM_001110792.2(MECP2):c.63-3C>G
|
rs2522114817
|
|
|
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)
|
rs1209806388
|
|
|
NM_001110792.2(MECP2):c.818C>T (p.Pro273Leu)
|
rs2522071887
|
|
|
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile)
|
rs1553213121
|
|
|
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys)
|
rs756241513
|
|
|
NM_001111.5(ADAR):c.2613C>T (p.Ala871=)
|
rs1697008373
|
|
|
NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met)
|
rs772773296
|
|
|
NM_001111125.3(IQSEC2):c.2596G>A (p.Val866Ile)
|
rs2519772774
|
|
|
NM_001111125.3(IQSEC2):c.3065G>A (p.Arg1022His)
|
rs782517888
|
|
|
NM_001111125.3(IQSEC2):c.3602C>T (p.Ser1201Phe)
|
rs2147005416
|
|
|
NM_001112.4(ADARB1):c.713T>C (p.Met238Thr)
|
rs932355965
|
|
|
NM_001112704.2(VAX1):c.853G>T (p.Ala285Ser)
|
rs2493437704
|
|
|
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)
|
rs1057524670
|
|
|
NM_001112741.2(KCNC1):c.785T>C (p.Met262Thr)
|
rs1398441738
|
|
|
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
|
rs1222323889
|
|
|
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
|
rs2052679886
|
|
|
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
|
rs1391890745
|
|
|
NM_001113491.2(SEPTIN9):c.1166A>G (p.Lys389Arg)
|
rs1568117265
|
|
|
NM_001113491.2(SEPTIN9):c.1381-4C>G
|
rs2040076958
|
|
|
NM_001113491.2(SEPTIN9):c.362A>G (p.Asn121Ser)
|
rs759810622
|
|
|
NM_001114134.2(EPB42):c.10+6C>T
|
rs200354161
|
|
|
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)
|
rs377523204
|
|
|
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)
|
rs745934000
|
|
|
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
|
rs370209252
|
|
|
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
|
rs2542519610
|
|
|
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
|
rs1054393668
|
|
|
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)
|
rs2542500196
|
|
|
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
|
rs2539059068
|
|
|
NM_001122630.2(CDKN1C):c.-10-4G>A
|
rs2133786706
|
|
|
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln)
|
rs1238182415
|
|
|
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9])
|
rs878853629
|
|
|
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6])
|
rs878853637
|
|
|
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser)
|
rs1467420956
|
|
|
NM_001122630.2(CDKN1C):c.787+5G>A
|
rs2494383007
|
|
|
NM_001122636.2(GALNT9):c.1216_1219del (p.Asp406fs)
|
rs2541098027
|
|
|
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)
|
rs2476236067
|
|
|
NM_001122764.3(PPOX):c.761G>A (p.Gly254Asp)
|
rs753605112
|
|
|
NM_001122955.4(BSCL2):c.1043T>A (p.Val348Asp)
|
rs2539145203
|
|
|
NM_001122955.4(BSCL2):c.430T>C (p.Ser144Pro)
|
rs2539174079
|
|
|
NM_001122955.4(BSCL2):c.937A>G (p.Ile313Val)
|
rs753679234
|
|
|
NM_001123385.2(BCOR):c.1231C>T (p.Arg411Trp)
|
rs1935645410
|
|
|
NM_001123385.2(BCOR):c.184C>T (p.His62Tyr)
|
rs1170638648
|
|
|
NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile)
|
rs2519971316
|
|
|
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val)
|
rs2520063904
|
|
|
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met)
|
rs749234287
|
|
|
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr)
|
rs61730207
|
|
|
NM_001126121.2(SLC25A19):c.433C>A (p.Arg145Ser)
|
rs151237931
|
|
|
NM_001127178.3(PIGG):c.119A>C (p.His40Pro)
|
rs1716709758
|
|
|
NM_001127208.3(TET2):c.5107G>T (p.Gly1703Ter)
|
rs1363619399
|
|
|
NM_001127208.3(TET2):c.685dup (p.Thr229fs)
|
rs759055581
|
|
|
NM_001127222.2(CACNA1A):c.1168A>G (p.Asn390Asp)
|
rs1325031769
|
|
|
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp)
|
rs1448345243
|
|
|
NM_001127222.2(CACNA1A):c.1354T>G (p.Phe452Val)
|
rs2512983404
|
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
rs368677227
|
|
|
NM_001127222.2(CACNA1A):c.176T>C (p.Met59Thr)
|
rs2513709081
|
|
|
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)
|
rs576099495
|
|
|
NM_001127222.2(CACNA1A):c.2428C>T (p.His810Tyr)
|
rs2512910173
|
|
|
NM_001127222.2(CACNA1A):c.2870G>A (p.Arg957His)
|
rs1568507881
|
|
|
NM_001127222.2(CACNA1A):c.2935C>T (p.His979Tyr)
|
rs2057723453
|
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
|
NM_001127222.2(CACNA1A):c.4131C>T (p.Phe1377=)
|
rs1353506638
|
|
|
NM_001127222.2(CACNA1A):c.4233G>A (p.Glu1411=)
|
rs1295257673
|
|
|
NM_001127222.2(CACNA1A):c.529G>T (p.Val177Leu)
|
rs2513503450
|
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
|
NM_001127222.2(CACNA1A):c.6217G>C (p.Asp2073His)
|
rs1057524336
|
|
|
NM_001127222.2(CACNA1A):c.6341C>T (p.Thr2114Ile)
|
rs2512521136
|
|
|
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130
|
|
|
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_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)
|
rs750267834
|
|
|
NM_001127392.3(MYRF):c.2155G>T (p.Gly719Cys)
|
rs752534115
|
|
|
NM_001127392.3(MYRF):c.277C>T (p.Pro93Ser)
|
rs2540856342
|
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
|
NM_001127644.2(GABRA1):c.187+8G>A
|
rs2532205137
|
|
|
NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)
|
rs2532198341
|
|
|
NM_001127644.2(GABRA1):c.730T>C (p.Phe244Leu)
|
rs2532280150
|
|
|
NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)
|
rs2532280639
|
|
|
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met)
|
rs2113464702
|
|
|
NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)
|
rs2502408375
|
|
|
NM_001128225.3(SLC39A13):c.-9+256T>C
|
rs2495913148
|
|
|
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)
|
rs2496019254
|
|
|
NM_001128840.3(CACNA1D):c.2155G>A (p.Gly719Arg)
|
rs2473732209
|
|
|
NM_001128840.3(CACNA1D):c.2474-2A>C
|
rs952695177
|
|
|
NM_001128840.3(CACNA1D):c.2919-6C>T
|
rs2473926499
|
|
|
NM_001128840.3(CACNA1D):c.3061G>A (p.Val1021Ile)
|
rs760195465
|
|
|
NM_001128840.3(CACNA1D):c.3217C>A (p.Arg1073Ser)
|
rs765175731
|
|
|
NM_001128840.3(CACNA1D):c.3631A>C (p.Met1211Leu)
|
rs2474011416
|
|
|
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)
|
rs775882768
|
|
|
NM_001128840.3(CACNA1D):c.4000del (p.Glu1334fs)
|
rs2474190639
|
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
|
NM_001130144.3(LTBP3):c.1687A>C (p.Ser563Arg)
|
rs758603078
|
|
|
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys)
|
rs376337792
|
|
|
NM_001130144.3(LTBP3):c.671C>G (p.Pro224Arg)
|
rs889173987
|
|
|
NM_001130438.3(SPTAN1):c.1306G>C (p.Asp436His)
|
rs929796374
|
|
|
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn)
|
rs2131160403
|
|
|
NM_001130438.3(SPTAN1):c.3155+3A>G
|
rs2541401978
|
|
|
NM_001130438.3(SPTAN1):c.3391AAG[1] (p.Lys1132del)
|
rs2541454361
|
|
|
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
|
rs1047205525
|
|
|
NM_001130438.3(SPTAN1):c.4759-7T>C
|
rs1307129452
|
|
|
NM_001130438.3(SPTAN1):c.5459C>T (p.Ala1820Val)
|
rs2541940968
|
|
|
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile)
|
rs1440498629
|
|
|
NM_001130438.3(SPTAN1):c.6171G>A (p.Lys2057=)
|
rs777182182
|
|
|
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
|
rs1027721632
|
|
|
NM_001130698.2(TRPC3):c.857C>G (p.Ser286Trp)
|
rs774832979
|
|
|
NM_001130823.3(DNMT1):c.1280+2T>C
|
rs1344636403
|
|
|
NM_001130823.3(DNMT1):c.4700G>A (p.Arg1567Gln)
|
rs1393111051
|
|
|
NM_001130969.3(NSMF):c.194C>A (p.Pro65His)
|
rs2538368862
|
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
|
NM_001130987.2(DYSF):c.1033+5G>A
|
rs2545454197
|
|
|
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser)
|
rs2152742210
|
|
|
NM_001130987.2(DYSF):c.1235A>T (p.His412Leu)
|
rs2545492365
|
|
|
NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)
|
rs770578593
|
|
|
NM_001130987.2(DYSF):c.1256G>T (p.Arg419Leu)
|
rs776036392
|
|
|
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del)
|
rs1553531818
|
|
|
NM_001130987.2(DYSF):c.1333A>G (p.Lys445Glu)
|
rs2545508708
|
|
|
NM_001130987.2(DYSF):c.1343T>C (p.Val448Ala)
|
rs942200789
|
|
|
NM_001130987.2(DYSF):c.1493+2dup
|
rs753885022
|
|
|
NM_001130987.2(DYSF):c.1493+5G>A
|
rs553207755
|
|
|
NM_001130987.2(DYSF):c.1544C>G (p.Ser515Trp)
|
rs139258703
|
|
|
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)
|
rs1446214240
|
|
|
NM_001130987.2(DYSF):c.1788T>A (p.Asp596Glu)
|
rs2090959782
|
|
|
NM_001130987.2(DYSF):c.1852T>C (p.Ser618Pro)
|
rs2152790710
|
|
|
NM_001130987.2(DYSF):c.1976_1984+3dup
|
rs1573943846
|
|
|
NM_001130987.2(DYSF):c.2016C>G (p.Asn672Lys)
|
rs199565036
|
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
|
NM_001130987.2(DYSF):c.2174C>G (p.Ser725Trp)
|
rs376571932
|
|
|
NM_001130987.2(DYSF):c.2386C>A (p.Arg796Ser)
|
rs143568054
|
|
|
NM_001130987.2(DYSF):c.2414A>G (p.Gln805Arg)
|
rs2091943575
|
|
|
NM_001130987.2(DYSF):c.2435T>A (p.Val812Asp)
|
rs1267552467
|
|
|
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr)
|
rs146819460
|
|
|
NM_001130987.2(DYSF):c.2519A>C (p.Asn840Thr)
|
rs1411430887
|
|
|
NM_001130987.2(DYSF):c.254C>A (p.Ala85Asp)
|
rs772008300
|
|
|
NM_001130987.2(DYSF):c.2702A>C (p.Glu901Ala)
|
rs2152811264
|
|
|
NM_001130987.2(DYSF):c.2707G>C (p.Glu903Gln)
|
rs770997582
|
|
|
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile)
|
rs2092226553
|
|
|
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup)
|
rs1172863089
|
|
|
NM_001130987.2(DYSF):c.2857_2859del (p.Glu953del)
|
rs2545800495
|
|
|
NM_001130987.2(DYSF):c.3034T>A (p.Trp1012Arg)
|
rs2545819575
|
|
|
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
|
rs200943384
|
|
|
NM_001130987.2(DYSF):c.3085G>A (p.Gly1029Ser)
|
rs2545819982
|
|
|
NM_001130987.2(DYSF):c.3170G>T (p.Arg1057Leu)
|
rs149617331
|
|
|
NM_001130987.2(DYSF):c.3208C>A (p.Gln1070Lys)
|
rs2545824518
|
|
|
NM_001130987.2(DYSF):c.3279T>C (p.Phe1093=)
|
rs2545875926
|
|
|
NM_001130987.2(DYSF):c.3285G>T (p.Trp1095Cys)
|
rs886043890
|
|
|
NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His)
|
rs369345918
|
|
|
NM_001130987.2(DYSF):c.3337C>G (p.Arg1113Gly)
|
rs141536854
|
|
|
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser)
|
rs202000264
|
|
|
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)
|
rs959125009
|
|
|
NM_001130987.2(DYSF):c.3527T>C (p.Met1176Thr)
|
rs1213127011
|
|
|
NM_001130987.2(DYSF):c.3575-3C>A
|
rs2093462624
|
|
|
NM_001130987.2(DYSF):c.3642C>A (p.Asn1214Lys)
|
rs1434655722
|
|
|
NM_001130987.2(DYSF):c.3794C>A (p.Pro1265Gln)
|
rs539141161
|
|
|
NM_001130987.2(DYSF):c.388G>T (p.Ala130Ser)
|
rs1449509021
|
|
|
NM_001130987.2(DYSF):c.3935A>G (p.Glu1312Gly)
|
rs2093576892
|
|
|
NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro)
|
rs794727597
|
|
|
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)
|
rs61742872
|
|
|
NM_001130987.2(DYSF):c.4111TCC[1] (p.Ser1372del)
|
rs398123785
|
|
|
NM_001130987.2(DYSF):c.4219G>A (p.Val1407Met)
|
rs2546131076
|
|
|
NM_001130987.2(DYSF):c.4247G>A (p.Cys1416Tyr)
|
rs762804655
|
|
|
NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser)
|
rs151268930
|
|
|
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His)
|
rs138268837
|
|
|
NM_001130987.2(DYSF):c.4292G>C (p.Arg1431Pro)
|
rs768354800
|
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
|
NM_001130987.2(DYSF):c.4354T>G (p.Ser1452Ala)
|
rs2546143971
|
|
|
NM_001130987.2(DYSF):c.4547G>C (p.Trp1516Ser)
|
rs755781770
|
|
|
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)
|
rs398123788
|
|
|
NM_001130987.2(DYSF):c.4592G>C (p.Gly1531Ala)
|
rs2546398616
|
|
|
NM_001130987.2(DYSF):c.4627-10T>G
|
rs2094765418
|
|
|
NM_001130987.2(DYSF):c.4643T>G (p.Leu1548Arg)
|
rs2546474595
|
|
|
NM_001130987.2(DYSF):c.4681T>G (p.Cys1561Gly)
|
rs768643299
|
|
|
NM_001130987.2(DYSF):c.4775C>G (p.Pro1592Arg)
|
rs1374069335
|
|
|
NM_001130987.2(DYSF):c.4777C>T (p.Leu1593Phe)
|
rs1400489771
|
|
|
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
|
NM_001130987.2(DYSF):c.5078C>T (p.Ser1693Phe)
|
rs1394773597
|
|
|
NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)
|
rs777984362
|
|
|
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)
|
rs776452710
|
|
|
NM_001130987.2(DYSF):c.5222T>C (p.Leu1741Pro)
|
rs1553413187
|
|
|
NM_001130987.2(DYSF):c.5291A>G (p.Asp1764Gly)
|
rs2152951845
|
|
|
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe)
|
rs1558778541
|
|
|
NM_001130987.2(DYSF):c.5438T>A (p.Leu1813Gln)
|
rs1242438362
|
|
|
NM_001130987.2(DYSF):c.5459G>T (p.Gly1820Val)
|
rs886042341
|
|
|
NM_001130987.2(DYSF):c.5475G>T (p.Trp1825Cys)
|
rs2546570902
|
|
|
NM_001130987.2(DYSF):c.5702G>C (p.Gly1901Ala)
|
rs2095084258
|
|
|
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)
|
rs1024524968
|
|
|
NM_001130987.2(DYSF):c.5722T>C (p.Trp1908Arg)
|
rs2152956607
|
|
|
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys)
|
rs886043028
|
|
|
NM_001130987.2(DYSF):c.5737C>G (p.Pro1913Ala)
|
rs1257277890
|
|
|
NM_001130987.2(DYSF):c.5784+5G>A
|
rs766469404
|
|
|
NM_001130987.2(DYSF):c.5789C>G (p.Ala1930Gly)
|
rs1346535569
|
|
|
NM_001130987.2(DYSF):c.5831G>C (p.Arg1944Pro)
|
rs886043057
|
|
|
NM_001130987.2(DYSF):c.5860A>G (p.Lys1954Glu)
|
rs2546606553
|
|
|
NM_001130987.2(DYSF):c.5885-32A>G
|
rs920415675
|
|
|
NM_001130987.2(DYSF):c.6002A>T (p.Gln2001Leu)
|
rs1432259858
|
|
|
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp)
|
rs149357145
|
|
|
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])
|
rs749619435
|
|
|
NM_001130987.2(DYSF):c.6321+5G>A
|
rs745389166
|
|
|
NM_001130987.2(DYSF):c.784C>T (p.Arg262Cys)
|
rs1195231407
|
|
|
NM_001130987.2(DYSF):c.811C>G (p.Pro271Ala)
|
rs367785538
|
|
|
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp)
|
rs769180834
|
|
|
NM_001130987.2(DYSF):c.870C>G (p.Asn290Lys)
|
rs766315212
|
|
|
NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)
|
rs1559053603
|
|
|
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)
|
rs1553522164
|
|
|
NM_001130987.2(DYSF):c.989T>G (p.Leu330Arg)
|
rs2152736786
|
|
|
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)
|
rs539484245
|
|
|
NM_001131016.2(CIZ1):c.26_49del (p.Gln9_Gln16del)
|
rs767703623
|
|
|
NM_001131016.2(CIZ1):c.619G>A (p.Asp207Asn)
|
rs1831494504
|
|
|
NM_001134232.2(TMEM106B):c.697A>G (p.Thr233Ala)
|
rs2534927399
|
|
|
NM_001134363.3(RBM20):c.458C>T (p.Pro153Leu)
|
rs2493410091
|
|
|
NM_001134363.3(RBM20):c.556C>T (p.Leu186Phe)
|
rs2493410597
|
|
|
NM_001134407.3(GRIN2A):c.1006C>A (p.Pro336Thr)
|
rs148511104
|
|
|
NM_001134407.3(GRIN2A):c.1084G>A (p.Val362Met)
|
rs750620368
|
|
|
NM_001134407.3(GRIN2A):c.1777+6G>T
|
rs76549675
|
|
|
NM_001134407.3(GRIN2A):c.2323A>G (p.Ile775Val)
|
rs2506038886
|
|
|
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)
|
rs145495027
|
|
|
NM_001134407.3(GRIN2A):c.2620G>A (p.Val874Met)
|
rs2141138436
|
|
|
NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del)
|
rs766019656
|
|
|
NM_001134407.3(GRIN2A):c.3152A>G (p.Tyr1051Cys)
|
rs1567277844
|
|
|
NM_001134407.3(GRIN2A):c.3506G>A (p.Arg1169Gln)
|
rs761399460
|
|
|
NM_001134407.3(GRIN2A):c.3877G>A (p.Asp1293Asn)
|
rs778230379
|
|
|
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)
|
rs1553911693
|
|
|
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)
|
rs2476332568
|
|
|
NM_001135651.3(EIF2AK2):c.1067+1G>A
|
rs2465285321
|
|
|
NM_001135651.3(EIF2AK2):c.1067+5C>T
|
rs1674591230
|
|
|
NM_001135651.3(EIF2AK2):c.1323T>C (p.Asn441=)
|
rs2466922392
|
|
|
NM_001135651.3(EIF2AK2):c.646A>C (p.Asn216His)
|
rs374251302
|
|
|
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp)
|
rs1006351159
|
|
|
NM_001136157.2(OTUD5):c.1375C>A (p.His459Asn)
|
rs2519712598
|
|
|
NM_001136157.2(OTUD5):c.657G>C (p.Lys219Asn)
|
rs782002385
|
|
|
NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)
|
rs1317181507
|
|
|
NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)
|
rs2469463266
|
|
|
NM_001136271.3(NKX2-6):c.620G>A (p.Arg207Gln)
|
rs1801025693
|
|
|
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)
|
rs1324125372
|
|
|
NM_001141947.3(CCDC66):c.1037_1040del (p.Arg346fs)
|
rs2071216739
|
|
|
NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)
|
rs777246149
|
|
|
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
|
rs763464528
|
|
|
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
|
rs2507725779
|
|
|
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
|
rs148129311
|
|
|
NM_001142699.3(DLG2):c.335G>A (p.Trp112Ter)
|
rs181662985
|
|
|
NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)
|
rs878853125
|
|
|
NM_001142864.4(PIEZO1):c.106C>T (p.Leu36Phe)
|
rs2507962931
|
|
|
NM_001142864.4(PIEZO1):c.1132A>G (p.Thr378Ala)
|
rs1905318408
|
|
|
NM_001142864.4(PIEZO1):c.1208G>A (p.Arg403Gln)
|
rs569576587
|
|
|
NM_001142864.4(PIEZO1):c.1336C>A (p.Leu446Met)
|
rs2507916963
|
|
|
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser)
|
rs763516197
|
|
|
NM_001142864.4(PIEZO1):c.1913T>C (p.Met638Thr)
|
rs1905090074
|
|
|
NM_001142864.4(PIEZO1):c.2156C>T (p.Thr719Met)
|
rs1452118079
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[5] (p.Glu754_Glu756del)
|
rs59446030
|
|
|
NM_001142864.4(PIEZO1):c.2251G>C (p.Glu751Gln)
|
rs1005608662
|
|
|
NM_001142864.4(PIEZO1):c.2252A>C (p.Glu751Ala)
|
rs2507907151
|
|
|
NM_001142864.4(PIEZO1):c.2315C>T (p.Thr772Met)
|
rs561264067
|
|
|
NM_001142864.4(PIEZO1):c.2404G>A (p.Val802Met)
|
rs749307718
|
|
|
NM_001142864.4(PIEZO1):c.253C>T (p.Pro85Ser)
|
rs775050594
|
|
|
NM_001142864.4(PIEZO1):c.2627T>A (p.Val876Asp)
|
rs932143449
|
|
|
NM_001142864.4(PIEZO1):c.2641_2643del (p.Glu881del)
|
rs1904992962
|
|
|
NM_001142864.4(PIEZO1):c.2664+3A>G
|
rs2507903703
|
|
|
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.2764G>C (p.Gly922Arg)
|
rs765114227
|
|
|
NM_001142864.4(PIEZO1):c.2813T>C (p.Leu938Pro)
|
rs2507899638
|
|
|
NM_001142864.4(PIEZO1):c.2926G>A (p.Asp976Asn)
|
rs2507898691
|
|
|
NM_001142864.4(PIEZO1):c.2941G>A (p.Gly981Ser)
|
rs529542524
|
|
|
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu)
|
rs374262841
|
|
|
NM_001142864.4(PIEZO1):c.3001C>G (p.Leu1001Val)
|
rs550074132
|
|
|
NM_001142864.4(PIEZO1):c.3031A>G (p.Met1011Val)
|
rs1162610897
|
|
|
NM_001142864.4(PIEZO1):c.3082C>T (p.Arg1028Cys)
|
rs150852918
|
|
|
NM_001142864.4(PIEZO1):c.3096G>C (p.Gln1032His)
|
rs1251424482
|
|
|
NM_001142864.4(PIEZO1):c.3218G>A (p.Arg1073Gln)
|
rs1030312028
|
|
|
NM_001142864.4(PIEZO1):c.3274C>T (p.Arg1092Trp)
|
rs548314176
|
|
|
NM_001142864.4(PIEZO1):c.3293A>G (p.Asn1098Ser)
|
rs2507880863
|
|
|
NM_001142864.4(PIEZO1):c.3487T>G (p.Phe1163Val)
|
rs1374014816
|
|
|
NM_001142864.4(PIEZO1):c.3520G>C (p.Val1174Leu)
|
rs555582997
|
|
|
NM_001142864.4(PIEZO1):c.3707C>T (p.Ala1236Val)
|
rs1904455251
|
|
|
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr)
|
rs533490181
|
|
|
NM_001142864.4(PIEZO1):c.3832C>A (p.Leu1278Met)
|
rs1034631020
|
|
|
NM_001142864.4(PIEZO1):c.3868G>T (p.Val1290Phe)
|
rs756534418
|
|
|
NM_001142864.4(PIEZO1):c.3913C>T (p.His1305Tyr)
|
rs2507873955
|
|
|
NM_001142864.4(PIEZO1):c.3962C>T (p.Ala1321Val)
|
rs1255646383
|
|
|
NM_001142864.4(PIEZO1):c.3988G>A (p.Ala1330Thr)
|
rs866681472
|
|
|
NM_001142864.4(PIEZO1):c.4027GAG[1] (p.Glu1344del)
|
rs1461753622
|
|
|
NM_001142864.4(PIEZO1):c.4058A>T (p.Gln1353Leu)
|
rs1345073048
|
|
|
NM_001142864.4(PIEZO1):c.4066C>T (p.Arg1356Cys)
|
rs374018271
|
|
|
NM_001142864.4(PIEZO1):c.4084_4086del (p.Glu1362del)
|
rs1433679803
|
|
|
NM_001142864.4(PIEZO1):c.4117C>G (p.Arg1373Gly)
|
rs980052704
|
|
|
NM_001142864.4(PIEZO1):c.4379GGC[1] (p.Arg1461_Arg1462del)
|
rs759270131
|
|
|
NM_001142864.4(PIEZO1):c.4387_4392del (p.Gln1463_Gln1464del)
|
rs1163261191
|
|
|
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1])
|
rs11281795
|
|
|
NM_001142864.4(PIEZO1):c.4406_4416delinsAG (p.Ala1469_Gln1471del)
|
rs2507860588
|
|
|
NM_001142864.4(PIEZO1):c.4420G>A (p.Ala1474Thr)
|
rs1330770941
|
|
|
NM_001142864.4(PIEZO1):c.4503C>A (p.Ser1501Arg)
|
rs2507858741
|
|
|
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
|
rs767365106
|
|
|
NM_001142864.4(PIEZO1):c.4559C>G (p.Ala1520Gly)
|
rs761898876
|
|
|
NM_001142864.4(PIEZO1):c.4609G>C (p.Gly1537Arg)
|
rs1482000245
|
|
|
NM_001142864.4(PIEZO1):c.4619G>A (p.Ser1540Asn)
|
rs1904291892
|
|
|
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.468TGA[2] (p.Asp158del)
|
rs982400049
|
|
|
NM_001142864.4(PIEZO1):c.4748C>T (p.Ala1583Val)
|
rs940442937
|
|
|
NM_001142864.4(PIEZO1):c.4784G>A (p.Gly1595Asp)
|
rs1484557750
|
|
|
NM_001142864.4(PIEZO1):c.4815C>G (p.Asp1605Glu)
|
rs755963743
|
|
|
NM_001142864.4(PIEZO1):c.4849A>C (p.Thr1617Pro)
|
rs2507854902
|
|
|
NM_001142864.4(PIEZO1):c.4952A>C (p.Asp1651Ala)
|
rs2507854306
|
|
|
NM_001142864.4(PIEZO1):c.5011C>T (p.Arg1671Trp)
|
rs771035950
|
|
|
NM_001142864.4(PIEZO1):c.5021G>A (p.Arg1674Gln)
|
rs958201410
|
|
|
NM_001142864.4(PIEZO1):c.5035G>A (p.Val1679Met)
|
rs772479622
|
|
|
NM_001142864.4(PIEZO1):c.5062_5063delinsCT (p.Glu1688Leu)
|
rs2507852969
|
|
|
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln)
|
rs749976222
|
|
|
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
|
rs764374591
|
|
|
NM_001142864.4(PIEZO1):c.5419G>A (p.Asp1807Asn)
|
rs2507849308
|
|
|
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
|
rs532921066
|
|
|
NM_001142864.4(PIEZO1):c.5482G>C (p.Glu1828Gln)
|
rs532921066
|
|
|
NM_001142864.4(PIEZO1):c.5527C>G (p.Gln1843Glu)
|
rs939494574
|
|
|
NM_001142864.4(PIEZO1):c.5556C>G (p.Asp1852Glu)
|
rs750862138
|
|
|
NM_001142864.4(PIEZO1):c.5669-3C>T
|
rs1284186567
|
|
|
NM_001142864.4(PIEZO1):c.5681G>C (p.Arg1894Thr)
|
rs552401582
|
|
|
NM_001142864.4(PIEZO1):c.5695G>T (p.Gly1899Trp)
|
rs757623895
|
|
|
NM_001142864.4(PIEZO1):c.5810G>A (p.Gly1937Asp)
|
rs2507844561
|
|
|
NM_001142864.4(PIEZO1):c.5979C>G (p.Ser1993=)
|
rs1912334230
|
|
|
NM_001142864.4(PIEZO1):c.6019A>T (p.Met2007Leu)
|
rs1441826695
|
|
|
NM_001142864.4(PIEZO1):c.601C>T (p.Arg201Trp)
|
rs924417840
|
|
|
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val)
|
rs764365348
|
|
|
NM_001142864.4(PIEZO1):c.6214A>C (p.Ile2072Leu)
|
rs753010369
|
|
|
NM_001142864.4(PIEZO1):c.6279C>A (p.Phe2093Leu)
|
rs1220269760
|
|
|
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
|
rs776531529
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[3] (p.Lys2168_Lys2169del)
|
rs763477215
|
|
|
NM_001142864.4(PIEZO1):c.6574C>A (p.Leu2192Ile)
|
rs772614278
|
|
|
NM_001142864.4(PIEZO1):c.6576_6590del (p.Phe2193_Val2197del)
|
rs2507828594
|
|
|
NM_001142864.4(PIEZO1):c.6784C>G (p.Pro2262Ala)
|
rs2507825690
|
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
|
NM_001142864.4(PIEZO1):c.695C>G (p.Thr232Ser)
|
rs769071879
|
|
|
NM_001142864.4(PIEZO1):c.6973A>C (p.Met2325Leu)
|
rs991295243
|
|
|
NM_001142864.4(PIEZO1):c.707G>C (p.Cys236Ser)
|
rs1354414741
|
|
|
NM_001142864.4(PIEZO1):c.7081C>A (p.Arg2361Ser)
|
rs980506949
|
|
|
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)
|
rs200291894
|
|
|
NM_001142864.4(PIEZO1):c.7271G>C (p.Ser2424Thr)
|
rs1911990459
|
|
|
NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp)
|
rs1353678309
|
|
|
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met)
|
rs146432823
|
|
|
NM_001142864.4(PIEZO1):c.7398T>C (p.Ile2466=)
|
rs2507819015
|
|
|
NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met)
|
rs772748505
|
|
|
NM_001142864.4(PIEZO1):c.7481A>G (p.Glu2494Gly)
|
rs914014470
|
|
|
NM_001142864.4(PIEZO1):c.7507C>T (p.Leu2503Phe)
|
rs1911948784
|
|
|
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro)
|
rs774268616
|
|
|
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr)
|
rs751840512
|
|
|
NM_001142864.4(PIEZO1):c.868T>C (p.Phe290Leu)
|
rs2507925362
|
|
|
NM_001142966.3(GREB1L):c.1901G>C (p.Ser634Thr)
|
rs748258684
|
|
|
NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu)
|
rs370589003
|
|
|
NM_001142966.3(GREB1L):c.226G>A (p.Asp76Asn)
|
rs2510796455
|
|
|
NM_001142966.3(GREB1L):c.5060G>T (p.Arg1687Met)
|
rs2512006654
|
|
|
NM_001142966.3(GREB1L):c.566G>A (p.Arg189Lys)
|
rs2510947992
|
|
|
NM_001144967.3(NEDD4L):c.1393C>T (p.Pro465Ser)
|
rs1275987222
|
|
|
NM_001144967.3(NEDD4L):c.638A>G (p.Asn213Ser)
|
rs2059195284
|
|
|
NM_001145026.2(PTPRQ):c.4721A>G (p.Asp1574Gly)
|
rs2541665203
|
|
|
NM_001145026.2(PTPRQ):c.5017A>C (p.Asn1673His)
|
rs2541673842
|
|
|
NM_001145308.5(LRTOMT):c.179T>C (p.Leu60Pro)
|
rs2538911179
|
|
|
NM_001145319.2(PLS1):c.557dup (p.Leu187fs)
|
rs2472726154
|
|
|
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg)
|
rs1567338837
|
|
|
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
|
rs2543076245
|
|
|
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
|
rs757427486
|
|
|
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
|
rs2542982542
|
|
|
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
|
rs2542699998
|
|
|
NM_001145809.2(MYH14):c.2269C>A (p.Leu757Ile)
|
rs2514381787
|
|
|
NM_001145809.2(MYH14):c.5763G>T (p.Arg1921Ser)
|
rs2513776841
|
|
|
NM_001148.6(ANK2):c.2144C>A (p.Thr715Asn)
|
rs199681788
|
|
|
NM_001148.6(ANK2):c.3707C>T (p.Thr1236Ile)
|
rs2093587081
|
|
|
NM_001148.6(ANK2):c.8397T>A (p.Asp2799Glu)
|
rs779002619
|
|
|
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro)
|
rs1168752344
|
|
|
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys)
|
rs1343871742
|
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
|
NM_001159699.2(FHL1):c.254C>G (p.Ala85Gly)
|
rs2521263387
|
|
|
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del)
|
rs1237021594
|
|
|
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)
|
rs377693754
|
|
|
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
|
rs2521334539
|
|
|
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr)
|
rs1569530823
|
|
|
NM_001159699.2(FHL1):c.885G>C (p.Lys295Asn)
|
rs2521338446
|
|
|
NM_001159773.2(CANT1):c.505G>A (p.Asp169Asn)
|
rs780464924
|
|
|
NM_001159773.2(CANT1):c.799_801del (p.Asn267del)
|
rs2509810086
|
|
|
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)
|
rs2540546195
|
|
|
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)
|
rs949962880
|
|
|
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)
|
rs959131870
|
|
|
NM_001161352.2(KCNMA1):c.1595C>T (p.Ala532Val)
|
rs2550660424
|
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
|
NM_001161352.2(KCNMA1):c.1675A>G (p.Ile559Val)
|
rs2550659228
|
|
|
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
|
rs2550729992
|
|
|
NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)
|
rs2152943036
|
|
|
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)
|
rs1163075445
|
|
|
NM_001161352.2(KCNMA1):c.3147+8A>G
|
rs2548848410
|
|
|
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
|
rs752334052
|
|
|
NM_001161352.2(KCNMA1):c.358C>T (p.His120Tyr)
|
rs2552275283
|
|
|
NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val)
|
rs2548004416
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del)
|
rs760628050
|
|
|
NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa)
|
rs2468798857
|
|
|
NM_001161403.3(LIMS2):c.11+1287G>T
|
rs779917750
|
|
|
NM_001161403.3(LIMS2):c.11+1291C>G
|
rs2469076881
|
|
|
NM_001161403.3(LIMS2):c.11+1332_11+1333dup
|
rs140836565
|
|
|
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del)
|
rs762526323
|
|
|
NM_001161403.3(LIMS2):c.386G>A (p.Arg129His)
|
rs770698050
|
|
|
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)
|
rs770698050
|
|
|
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)
|
rs2468846814
|
|
|
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)
|
rs774061121
|
|
|
NM_001161403.3(LIMS2):c.661-2A>C
|
rs766965539
|
|
|
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs)
|
rs750940675
|
|
|
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs)
|
rs746910960
|
|
|
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)
|
rs140508168
|
|
|
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr)
|
rs201527546
|
|
|
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)
|
rs1402962493
|
|
|
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)
|
rs1169262058
|
|
|
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met)
|
rs1682159709
|
|
|
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup)
|
rs752066748
|
|
|
NM_001162383.2(ARHGEF2):c.734A>C (p.Gln245Pro)
|
rs2527404706
|
|
|
NM_001162501.2(TNRC6B):c.1111G>A (p.Asp371Asn)
|
rs2517985715
|
|
|
NM_001162501.2(TNRC6B):c.157G>A (p.Ala53Thr)
|
rs765835653
|
|
|
NM_001162501.2(TNRC6B):c.2420A>C (p.Asn807Thr)
|
rs765967243
|
|
|
NM_001162501.2(TNRC6B):c.2888G>T (p.Gly963Val)
|
rs918637207
|
|
|
NM_001162501.2(TNRC6B):c.2927G>A (p.Gly976Glu)
|
rs764428891
|
|
|
NM_001162501.2(TNRC6B):c.4592C>G (p.Ser1531Cys)
|
rs1569065756
|
|
|
NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)
|
rs1759330842
|
|
|
NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)
|
rs765182039
|
|
|
NM_001163435.3(TBCK):c.1588C>T (p.Arg530Cys)
|
rs1267975131
|
|
|
NM_001163435.3(TBCK):c.193+2dup
|
rs2479212555
|
|
|
NM_001163809.2(WDR81):c.1604G>T (p.Arg535Leu)
|
rs563732828
|
|
|
NM_001163809.2(WDR81):c.2533C>T (p.Leu845=)
|
rs1263737351
|
|
|
NM_001163809.2(WDR81):c.2713C>G (p.Leu905Val)
|
rs1480295686
|
|
|
NM_001163809.2(WDR81):c.3688C>G (p.Arg1230Gly)
|
rs146081272
|
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
|
NM_001163809.2(WDR81):c.4591G>A (p.Val1531Met)
|
rs147625451
|
|
|
NM_001163809.2(WDR81):c.4801G>T (p.Ala1601Ser)
|
rs377393973
|
|
|
NM_001163809.2(WDR81):c.5368C>T (p.Arg1790Cys)
|
rs777571265
|
|
|
NM_001163809.2(WDR81):c.5375T>C (p.Leu1792Pro)
|
rs2543917128
|
|
|
NM_001163809.2(WDR81):c.699_700delinsTT (p.Val234Leu)
|
rs2543865083
|
|
|
NM_001164277.2(SLC37A4):c.311C>T (p.Ala104Val)
|
rs1238696757
|
|
|
NM_001164277.2(SLC37A4):c.425C>T (p.Ser142Leu)
|
rs2497029447
|
|
|
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu)
|
rs199934793
|
|
|
NM_001164508.2(NEB):c.10048G>C (p.Asp3350His)
|
rs377180119
|
|
|
NM_001164508.2(NEB):c.1022T>G (p.Val341Gly)
|
rs2099738431
|
|
|
NM_001164508.2(NEB):c.10231_10233delinsACC (p.Ala3411Thr)
|
rs2154058279
|
|
|
NM_001164508.2(NEB):c.10264C>A (p.Pro3422Thr)
|
rs778043439
|
|
|
NM_001164508.2(NEB):c.10280A>C (p.Lys3427Thr)
|
rs751093136
|
|
|
NM_001164508.2(NEB):c.10283T>A (p.Phe3428Tyr)
|
rs2552236263
|
|
|
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val)
|
rs768451216
|
|
|
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val)
|
rs535926481
|
|
|
NM_001164508.2(NEB):c.10564A>G (p.Lys3522Glu)
|
rs1051265253
|
|
|
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser)
|
rs1372803594
|
|
|
NM_001164508.2(NEB):c.10810A>G (p.Ile3604Val)
|
rs765690064
|
|
|
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu)
|
rs781328083
|
|
|
NM_001164508.2(NEB):c.10969C>T (p.Leu3657Phe)
|
rs2552232081
|
|
|
NM_001164508.2(NEB):c.11070G>C (p.Met3690Ile)
|
rs765222306
|
|
|
NM_001164508.2(NEB):c.11086A>G (p.Thr3696Ala)
|
rs1383021043
|
|
|
NM_001164508.2(NEB):c.11221G>T (p.Gly3741Cys)
|
rs375657086
|
|
|
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
|
rs765379397
|
|
|
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
|
rs200557002
|
|
|
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
|
rs200557002
|
|
|
NM_001164508.2(NEB):c.11524C>T (p.Pro3842Ser)
|
rs2153991961
|
|
|
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp)
|
rs199766288
|
|
|
NM_001164508.2(NEB):c.11647G>A (p.Val3883Ile)
|
rs2552229068
|
|
|
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)
|
rs201483656
|
|
|
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly)
|
rs2098007899
|
|
|
NM_001164508.2(NEB):c.11777C>G (p.Ala3926Gly)
|
rs754671742
|
|
|
NM_001164508.2(NEB):c.11882C>T (p.Ala3961Val)
|
rs1455673985
|
|
|
NM_001164508.2(NEB):c.11894C>G (p.Ser3965Cys)
|
rs2552228075
|
|
|
NM_001164508.2(NEB):c.11948A>C (p.Lys3983Thr)
|
rs1054429355
|
|
|
NM_001164508.2(NEB):c.11958T>G (p.Asp3986Glu)
|
rs778501278
|
|
|
NM_001164508.2(NEB):c.11974A>T (p.Ile3992Phe)
|
rs1465332264
|
|
|
NM_001164508.2(NEB):c.1250G>A (p.Ser417Asn)
|
rs2099605421
|
|
|
NM_001164508.2(NEB):c.13028A>C (p.Gln4343Pro)
|
rs2552224076
|
|
|
NM_001164508.2(NEB):c.13220C>G (p.Pro4407Arg)
|
rs1484598732
|
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
|
NM_001164508.2(NEB):c.14515G>A (p.Asp4839Asn)
|
rs2097342865
|
|
|
NM_001164508.2(NEB):c.16415A>G (p.Glu5472Gly)
|
rs892361276
|
|
|
NM_001164508.2(NEB):c.16444C>T (p.Arg5482Cys)
|
rs1430692984
|
|
|
NM_001164508.2(NEB):c.16492A>C (p.Lys5498Gln)
|
rs1267112499
|
|
|
NM_001164508.2(NEB):c.16550C>G (p.Ser5517Cys)
|
rs2097053609
|
|
|
NM_001164508.2(NEB):c.16586AAG[1] (p.Glu5530del)
|
rs1314840310
|
|
|
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe)
|
rs2153808846
|
|
|
NM_001164508.2(NEB):c.167C>A (p.Ala56Glu)
|
rs1450050890
|
|
|
NM_001164508.2(NEB):c.16862C>T (p.Thr5621Ile)
|
rs372378973
|
|
|
NM_001164508.2(NEB):c.16924G>A (p.Val5642Ile)
|
rs2552199248
|
|
|
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr)
|
rs202009284
|
|
|
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr)
|
rs2153806253
|
|
|
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
|
rs2552196192
|
|
|
NM_001164508.2(NEB):c.17119T>G (p.Tyr5707Asp)
|
rs2552195959
|
|
|
NM_001164508.2(NEB):c.17174C>T (p.Thr5725Ile)
|
rs1385460652
|
|
|
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu)
|
rs371681892
|
|
|
NM_001164508.2(NEB):c.17675A>G (p.Tyr5892Cys)
|
rs2552194473
|
|
|
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro)
|
rs201072996
|
|
|
NM_001164508.2(NEB):c.17686G>A (p.Glu5896Lys)
|
rs2552194464
|
|
|
NM_001164508.2(NEB):c.17694_17695insTTG (p.Leu5900_His5901insLeu)
|
rs2552194457
|
|
|
NM_001164508.2(NEB):c.1783-5T>C
|
rs2149258165
|
|
|
NM_001164508.2(NEB):c.17870A>C (p.Lys5957Thr)
|
rs1331015423
|
|
|
NM_001164508.2(NEB):c.178C>A (p.Pro60Thr)
|
rs2552280321
|
|
|
NM_001164508.2(NEB):c.17975A>T (p.Asp5992Val)
|
rs749875634
|
|
|
NM_001164508.2(NEB):c.1822A>T (p.Met608Leu)
|
rs2552268561
|
|
|
NM_001164508.2(NEB):c.1824G>C (p.Met608Ile)
|
rs756102340
|
|
|
NM_001164508.2(NEB):c.18541A>G (p.Ile6181Val)
|
rs1211919696
|
|
|
NM_001164508.2(NEB):c.18573C>G (p.Asn6191Lys)
|
rs1262662644
|
|
|
NM_001164508.2(NEB):c.18579+4A>G
|
rs2096235702
|
|
|
NM_001164508.2(NEB):c.18661C>T (p.His6221Tyr)
|
rs2552191173
|
|
|
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val)
|
rs375357016
|
|
|
NM_001164508.2(NEB):c.18841G>C (p.Glu6281Gln)
|
rs762135216
|
|
|
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys)
|
rs1559952676
|
|
|
NM_001164508.2(NEB):c.19069A>G (p.Thr6357Ala)
|
rs2552189465
|
|
|
NM_001164508.2(NEB):c.19114G>A (p.Glu6372Lys)
|
rs2552189354
|
|
|
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly)
|
rs2153666324
|
|
|
NM_001164508.2(NEB):c.19753T>G (p.Leu6585Val)
|
rs1334709136
|
|
|
NM_001164508.2(NEB):c.19857T>C (p.Tyr6619=)
|
rs2153648002
|
|
|
NM_001164508.2(NEB):c.19967G>T (p.Arg6656Leu)
|
rs767200761
|
|
|
NM_001164508.2(NEB):c.20011T>A (p.Phe6671Ile)
|
rs2552182199
|
|
|
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
|
rs2552180930
|
|
|
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
|
rs2099556346
|
|
|
NM_001164508.2(NEB):c.20154C>A (p.Ser6718Arg)
|
rs753253128
|
|
|
NM_001164508.2(NEB):c.20185C>G (p.Leu6729Val)
|
rs2552179415
|
|
|
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu)
|
rs1559782362
|
|
|
NM_001164508.2(NEB):c.20362A>G (p.Ser6788Gly)
|
rs2552178667
|
|
|
NM_001164508.2(NEB):c.20537A>C (p.Glu6846Ala)
|
rs749302235
|
|
|
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr)
|
rs2093931355
|
|
|
NM_001164508.2(NEB):c.2075A>T (p.His692Leu)
|
rs763917533
|
|
|
NM_001164508.2(NEB):c.20795A>G (p.Tyr6932Cys)
|
rs2093886770
|
|
|
NM_001164508.2(NEB):c.20805A>T (p.Gln6935His)
|
rs756949010
|
|
|
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val)
|
rs1168345348
|
|
|
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
|
rs537451022
|
|
|
NM_001164508.2(NEB):c.20998A>T (p.Ile7000Leu)
|
rs1223818025
|
|
|
NM_001164508.2(NEB):c.21094G>T (p.Val7032Phe)
|
rs2552150567
|
|
|
NM_001164508.2(NEB):c.21157G>A (p.Asp7053Asn)
|
rs2552149512
|
|
|
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)
|
rs1279646895
|
|
|
NM_001164508.2(NEB):c.21368T>G (p.Leu7123Arg)
|
rs2552141537
|
|
|
NM_001164508.2(NEB):c.21408G>A (p.Met7136Ile)
|
rs2092295614
|
|
|
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
|
rs2552139145
|
|
|
NM_001164508.2(NEB):c.21572C>T (p.Thr7191Ile)
|
rs1190101717
|
|
|
NM_001164508.2(NEB):c.21901A>C (p.Lys7301Gln)
|
rs746252441
|
|
|
NM_001164508.2(NEB):c.22000G>C (p.Asp7334His)
|
rs761683927
|
|
|
NM_001164508.2(NEB):c.2201A>C (p.Gln734Pro)
|
rs369262243
|
|
|
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)
|
rs764524918
|
|
|
NM_001164508.2(NEB):c.2218T>A (p.Tyr740Asn)
|
rs2552267438
|
|
|
NM_001164508.2(NEB):c.22420A>T (p.Ser7474Cys)
|
rs2552107974
|
|
|
NM_001164508.2(NEB):c.2249C>A (p.Thr750Lys)
|
rs757505325
|
|
|
NM_001164508.2(NEB):c.22501G>T (p.Asp7501Tyr)
|
rs774715573
|
|
|
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
|
rs2080081717
|
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
|
NM_001164508.2(NEB):c.22846C>A (p.Leu7616Met)
|
rs769680657
|
|
|
NM_001164508.2(NEB):c.22905+7C>T
|
rs1426040506
|
|
|
NM_001164508.2(NEB):c.22990A>C (p.Lys7664Gln)
|
rs2552081101
|
|
|
NM_001164508.2(NEB):c.23020G>C (p.Glu7674Gln)
|
rs1229022696
|
|
|
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val)
|
rs1284612506
|
|
|
NM_001164508.2(NEB):c.23435A>G (p.Gln7812Arg)
|
rs2552035506
|
|
|
NM_001164508.2(NEB):c.23470C>A (p.Leu7824Ile)
|
rs779114883
|
|
|
NM_001164508.2(NEB):c.23544G>T (p.Lys7848Asn)
|
rs2153196043
|
|
|
NM_001164508.2(NEB):c.23610G>C (p.Glu7870Asp)
|
rs1046111595
|
|
|
NM_001164508.2(NEB):c.23620G>A (p.Val7874Met)
|
rs2551992129
|
|
|
NM_001164508.2(NEB):c.23683C>A (p.Pro7895Thr)
|
rs2551970454
|
|
|
NM_001164508.2(NEB):c.23723C>G (p.Thr7908Arg)
|
rs367921141
|
|
|
NM_001164508.2(NEB):c.23743G>T (p.Val7915Phe)
|
rs767404419
|
|
|
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup)
|
rs778176240
|
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
|
NM_001164508.2(NEB):c.23916G>T (p.Glu7972Asp)
|
rs772584927
|
|
|
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=)
|
rs781581005
|
|
|
NM_001164508.2(NEB):c.24208G>A (p.Val8070Met)
|
rs2061223578
|
|
|
NM_001164508.2(NEB):c.24269G>C (p.Arg8090Thr)
|
rs753382223
|
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
|
NM_001164508.2(NEB):c.24301-3C>G
|
rs1348566250
|
|
|
NM_001164508.2(NEB):c.24352G>C (p.Glu8118Gln)
|
rs2551842824
|
|
|
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)
|
rs942843328
|
|
|
NM_001164508.2(NEB):c.24486+9C>T
|
rs763870394
|
|
|
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr)
|
rs2152874768
|
|
|
NM_001164508.2(NEB):c.24652A>C (p.Asn8218His)
|
rs2551731673
|
|
|
NM_001164508.2(NEB):c.24657A>T (p.Gln8219His)
|
rs1477460315
|
|
|
NM_001164508.2(NEB):c.24761G>T (p.Ser8254Ile)
|
rs757919143
|
|
|
NM_001164508.2(NEB):c.24779A>G (p.Asp8260Gly)
|
rs1553529976
|
|
|
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys)
|
rs759522039
|
|
|
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val)
|
rs2099513616
|
|
|
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr)
|
rs775698655
|
|
|
NM_001164508.2(NEB):c.25141A>T (p.Met8381Leu)
|
rs147872436
|
|
|
NM_001164508.2(NEB):c.25175A>G (p.Glu8392Gly)
|
rs1036568297
|
|
|
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
|
rs754847294
|
|
|
NM_001164508.2(NEB):c.25272C>G (p.Asp8424Glu)
|
rs772073084
|
|
|
NM_001164508.2(NEB):c.25327C>G (p.Pro8443Ala)
|
rs1464935262
|
|
|
NM_001164508.2(NEB):c.25390C>G (p.Pro8464Ala)
|
rs376984481
|
|
|
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
|
rs993833092
|
|
|
NM_001164508.2(NEB):c.25501G>A (p.Glu8501Lys)
|
rs1304300842
|
|
|
NM_001164508.2(NEB):c.2561A>C (p.Lys854Thr)
|
rs2552266101
|
|
|
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
|
rs948435174
|
|
|
NM_001164508.2(NEB):c.2635G>A (p.Asp879Asn)
|
rs2552266061
|
|
|
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
|
rs377649771
|
|
|
NM_001164508.2(NEB):c.2782C>A (p.Pro928Thr)
|
rs770678983
|
|
|
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
|
rs549231016
|
|
|
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu)
|
rs368642083
|
|
|
NM_001164508.2(NEB):c.3282G>T (p.Lys1094Asn)
|
rs2552262744
|
|
|
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566
|
|
|
NM_001164508.2(NEB):c.3523A>G (p.Met1175Val)
|
rs2552262643
|
|
|
NM_001164508.2(NEB):c.3631C>G (p.Leu1211Val)
|
rs2552262547
|
|
|
NM_001164508.2(NEB):c.368G>T (p.Arg123Leu)
|
rs546250852
|
|
|
NM_001164508.2(NEB):c.3774+4A>C
|
rs1026503983
|
|
|
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
|
rs760069884
|
|
|
NM_001164508.2(NEB):c.3889A>G (p.Lys1297Glu)
|
rs1281421540
|
|
|
NM_001164508.2(NEB):c.4121A>G (p.Tyr1374Cys)
|
rs1453744813
|
|
|
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
|
rs907444959
|
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
|
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
|
rs2552260106
|
|
|
NM_001164508.2(NEB):c.4506T>G (p.Asp1502Glu)
|
rs2552260063
|
|
|
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)
|
rs751602407
|
|
|
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)
|
rs770192528
|
|
|
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys)
|
rs1403433350
|
|
|
NM_001164508.2(NEB):c.5315C>T (p.Ser1772Phe)
|
rs2552257481
|
|
|
NM_001164508.2(NEB):c.5552A>G (p.Lys1851Arg)
|
rs2552256206
|
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
|
NM_001164508.2(NEB):c.5866A>G (p.Ser1956Gly)
|
rs1258945263
|
|
|
NM_001164508.2(NEB):c.5983C>G (p.Gln1995Glu)
|
rs2552254265
|
|
|
NM_001164508.2(NEB):c.598G>A (p.Ala200Thr)
|
rs116678485
|
|
|
NM_001164508.2(NEB):c.6091T>A (p.Ser2031Thr)
|
rs745323298
|
|
|
NM_001164508.2(NEB):c.6205G>A (p.Glu2069Lys)
|
rs754065526
|
|
|
NM_001164508.2(NEB):c.6286A>G (p.Met2096Val)
|
rs2099085478
|
|
|
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn)
|
rs1234273631
|
|
|
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)
|
rs373439650
|
|
|
NM_001164508.2(NEB):c.659C>T (p.Pro220Leu)
|
rs2150663299
|
|
|
NM_001164508.2(NEB):c.6631T>G (p.Phe2211Val)
|
rs369374856
|
|
|
NM_001164508.2(NEB):c.6662A>G (p.Asp2221Gly)
|
rs1373401087
|
|
|
NM_001164508.2(NEB):c.6748G>A (p.Val2250Met)
|
rs372041287
|
|
|
NM_001164508.2(NEB):c.6778G>C (p.Ala2260Pro)
|
rs922801085
|
|
|
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser)
|
rs757526825
|
|
|
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
|
rs2099780372
|
|
|
NM_001164508.2(NEB):c.7309C>G (p.Arg2437Gly)
|
rs375164626
|
|
|
NM_001164508.2(NEB):c.7480A>G (p.Met2494Val)
|
rs202245789
|
|
|
NM_001164508.2(NEB):c.7513G>A (p.Ala2505Thr)
|
rs1298427136
|
|
|
NM_001164508.2(NEB):c.7579T>C (p.Tyr2527His)
|
rs2552247687
|
|
|
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
|
rs1273909326
|
|
|
NM_001164508.2(NEB):c.7957-3C>T
|
rs1263086584
|
|
|
NM_001164508.2(NEB):c.8017C>G (p.Leu2673Val)
|
rs2552246993
|
|
|
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys)
|
rs570763682
|
|
|
NM_001164508.2(NEB):c.8195C>G (p.Thr2732Ser)
|
rs2098897221
|
|
|
NM_001164508.2(NEB):c.8206A>G (p.Ile2736Val)
|
rs774874060
|
|
|
NM_001164508.2(NEB):c.821A>C (p.Lys274Thr)
|
rs762119862
|
|
|
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
|
rs774075079
|
|
|
NM_001164508.2(NEB):c.8487C>G (p.Asp2829Glu)
|
rs1243027424
|
|
|
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala)
|
rs2098832346
|
|
|
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp)
|
rs748618562
|
|
|
NM_001164508.2(NEB):c.8685+4A>T
|
rs2098831901
|
|
|
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
|
rs772143732
|
|
|
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
|
rs907346350
|
|
|
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
|
rs760359781
|
|
|
NM_001164508.2(NEB):c.9371_9372delinsAT (p.Ser3124Asn)
|
rs2552239800
|
|
|
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile)
|
rs2098661076
|
|
|
NM_001164508.2(NEB):c.955A>G (p.Met319Val)
|
rs1269690979
|
|
|
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser)
|
rs200351671
|
|
|
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671
|
|
|
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)
|
rs200930670
|
|
|
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
|
rs1192458685
|
|
|
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg)
|
rs772766917
|
|
|
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys)
|
rs753638647
|
|
|
NM_001165963.4(SCN1A):c.1171-6T>C
|
rs2468182935
|
|
|
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu)
|
rs796053094
|
|
|
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val)
|
rs777596738
|
|
|
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
|
rs2105852411
|
|
|
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
|
rs750260160
|
|
|
NM_001165963.4(SCN1A):c.2175A>C (p.Glu725Asp)
|
rs2468140537
|
|
|
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr)
|
rs886055045
|
|
|
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr)
|
rs2105808409
|
|
|
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)
|
rs796052986
|
|
|
NM_001165963.4(SCN1A):c.3154GAT[1] (p.Asp1053del)
|
rs1696361942
|
|
|
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe)
|
rs1696356533
|
|
|
NM_001165963.4(SCN1A):c.3308T>C (p.Met1103Thr)
|
rs1559193311
|
|
|
NM_001165963.4(SCN1A):c.3308T>G (p.Met1103Arg)
|
rs1559193311
|
|
|
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr)
|
rs528170959
|
|
|
NM_001165963.4(SCN1A):c.3399T>C (p.Ser1133=)
|
rs1298765257
|
|
|
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)
|
rs796052994
|
|
|
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val)
|
rs2105609833
|
|
|
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)
|
rs121918739
|
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
|
NM_001165963.4(SCN1A):c.3914G>T (p.Gly1305Val)
|
rs2105570936
|
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
|
NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys)
|
rs1064795303
|
|
|
NM_001165963.4(SCN1A):c.4141A>G (p.Thr1381Ala)
|
rs2468436009
|
|
|
NM_001165963.4(SCN1A):c.4200A>G (p.Ile1400Met)
|
rs2468434759
|
|
|
NM_001165963.4(SCN1A):c.4285-3T>C
|
rs1357355815
|
|
|
NM_001165963.4(SCN1A):c.4477-3T>C
|
rs1690013843
|
|
|
NM_001165963.4(SCN1A):c.4668C>T (p.Val1556=)
|
rs774376498
|
|
|
NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg)
|
rs2105432939
|
|
|
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val)
|
rs121917977
|
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
|
NM_001165963.4(SCN1A):c.544G>T (p.Asp182Tyr)
|
rs1698950030
|
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
|
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
|
rs748090629
|
|
|
NM_001165963.4(SCN1A):c.5798G>T (p.Arg1933Leu)
|
rs556893466
|
|
|
NM_001165963.4(SCN1A):c.6027A>G (p.Lys2009=)
|
rs1689081344
|
|
|
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)
|
rs886039464
|
|
|
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile)
|
rs796052962
|
|
|
NM_001165963.4(SCN1A):c.85A>G (p.Ile29Val)
|
rs2468367052
|
|
|
NM_001166114.2(PNPLA6):c.1802C>T (p.Ser601Phe)
|
rs2146086889
|
|
|
NM_001166114.2(PNPLA6):c.2785C>T (p.Arg929Cys)
|
rs1191422754
|
|
|
NM_001166114.2(PNPLA6):c.2935A>G (p.Arg979Gly)
|
rs1420322286
|
|
|
NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met)
|
rs1346418902
|
|
|
NM_001170535.3(ATAD3A):c.1651G>A (p.Glu551Lys)
|
rs368805470
|
|
|
NM_001170535.3(ATAD3A):c.568G>C (p.Glu190Gln)
|
rs1261319224
|
|
|
NM_001170535.3(ATAD3A):c.611C>T (p.Ala204Val)
|
rs2524157113
|
|
|
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)
|
rs753886912
|
|
|
NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)
|
rs745773943
|
|
|
NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)
|
rs2501953362
|
|
|
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
|
rs1888628991
|
|
|
NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)
|
rs2501930195
|
|
|
NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)
|
rs1387764357
|
|
|
NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)
|
rs2501857515
|
|
|
NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)
|
rs1887646970
|
|
|
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del)
|
rs150254629
|
|
|
NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)
|
rs1889541417
|
|
|
NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)
|
rs2501850232
|
|
|
NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)
|
rs747289672
|
|
|
NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)
|
rs2502007541
|
|
|
NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys)
|
rs17149149
|
|
|
NM_001171038.2(ASMT):c.796T>G (p.Phe266Val)
|
rs2521893473
|
|
|
NM_001171613.2(PREPL):c.332C>T (p.Pro111Leu)
|
rs369303884
|
|
|
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
|
rs2469069594
|
|
|
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
|
rs2468945785
|
|
|
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
|
rs2468897352
|
|
|
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
|
NM_001174147.2(LMX1B):c.705G>C (p.Lys235Asn)
|
rs1427231557
|
|
|
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met)
|
rs138798032
|
|
|
NM_001177316.2(SLC34A3):c.176-9T>G
|
rs1321161185
|
|
|
NM_001177316.2(SLC34A3):c.214_216del (p.Ser72del)
|
rs748680563
|
|
|
NM_001177949.2(SYCP3):c.484C>T (p.Gln162Ter)
|
rs1203049199
|
|
|
NM_001182.5(ALDH7A1):c.1318-8C>T
|
rs779379602
|
|
|
NM_001182.5(ALDH7A1):c.182G>C (p.Gly61Ala)
|
rs1751694777
|
|
|
NM_001182.5(ALDH7A1):c.688G>A (p.Val230Ile)
|
rs752824129
|
|
|
NM_001182.5(ALDH7A1):c.791A>T (p.Asp264Val)
|
rs1313633877
|
|
|
NM_001183.6(ATP6AP1):c.301G>A (p.Asp101Asn)
|
rs1237549752
|
|
|
NM_001183.6(ATP6AP1):c.515G>C (p.Ser172Thr)
|
rs1557196970
|
|
|
NM_001184.4(ATR):c.2617A>C (p.Thr873Pro)
|
rs2473383907
|
|
|
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)
|
rs2520986094
|
|
|
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
|
rs2520974913
|
|
|
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
|
rs924686008
|
|
|
NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)
|
rs2520448180
|
|
|
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
|
rs757057837
|
|
|
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
|
rs1928483128
|
|
|
NM_001190274.2(FBXO11):c.1607C>G (p.Pro536Arg)
|
rs2531100195
|
|
|
NM_001190274.2(FBXO11):c.1643A>T (p.Gln548Leu)
|
rs2531092032
|
|
|
NM_001190274.2(FBXO11):c.174GCC[6] (p.Pro66_Leu67insProProPro)
|
rs923188952
|
|
|
NM_001190274.2(FBXO11):c.2161A>G (p.Thr721Ala)
|
rs1338610012
|
|
|
NM_001190274.2(FBXO11):c.274C>G (p.Pro92Ala)
|
rs753263386
|
|
|
NM_001190274.2(FBXO11):c.504C>G (p.Phe168Leu)
|
rs1672803799
|
|
|
NM_001190274.2(FBXO11):c.963A>G (p.Ile321Met)
|
rs752059138
|
|
|
NM_001190417.2(ZNF674):c.1540C>A (p.His514Asn)
|
rs955437777
|
|
|
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)
|
rs778073001
|
|
|
NM_001190737.2(NFIB):c.955C>G (p.Pro319Ala)
|
rs544162821
|
|
|
NM_001191061.2(SLC25A22):c.200G>T (p.Arg67Leu)
|
rs770449567
|
|
|
NM_001191061.2(SLC25A22):c.407G>A (p.Arg136His)
|
rs1248128712
|
|
|
NM_001191061.2(SLC25A22):c.524G>A (p.Arg175His)
|
rs769329043
|
|
|
NM_001191061.2(SLC25A22):c.955C>T (p.Gln319Ter)
|
rs1864541757
|
|
|
NM_001193369.2(DIDO1):c.468C>T (p.Ser156=)
|
rs765566169
|
|
|
NM_001194.4(HCN2):c.1336C>G (p.Leu446Val)
|
rs1348603825
|
|
|
NM_001194.4(HCN2):c.2144CGC[10] (p.Pro721_Gln722insProProPro)
|
rs527536363
|
|
|
NM_001194.4(HCN2):c.2386G>T (p.Gly796Cys)
|
rs1426212293
|
|
|
NM_001195263.2(PDZD7):c.2776C>T (p.Arg926Cys)
|
rs892735909
|
|
|
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)
|
rs770336804
|
|
|
NM_001195305.3(BBIP1):c.187_188del (p.Leu63fs)
|
rs2493634669
|
|
|
NM_001195553.2(DCX):c.305G>A (p.Arg102His)
|
rs267606317
|
|
|
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)
|
rs587783577
|
|
|
NM_001197104.2(KMT2A):c.1064T>C (p.Ile355Thr)
|
rs2496795801
|
|
|
NM_001197104.2(KMT2A):c.188CGG[7] (p.Ala66_Ala67dup)
|
rs781936420
|
|
|
NM_001197104.2(KMT2A):c.1A>T (p.Met1Leu)
|
rs2497095341
|
|
|
NM_001197104.2(KMT2A):c.464AAG[1] (p.Glu156del)
|
rs1480267323
|
|
|
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
|
rs761822543
|
|
|
NM_001199107.2(TBC1D24):c.335G>A (p.Gly112Glu)
|
rs2505513266
|
|
|
NM_001199107.2(TBC1D24):c.464C>G (p.Ala155Gly)
|
rs1173366996
|
|
|
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg)
|
rs2141870701
|
|
|
NM_001199107.2(TBC1D24):c.700G>T (p.Val234Leu)
|
rs2505515629
|
|
|
NM_001199107.2(TBC1D24):c.943_963dup (p.Lys321_Ser322insGlyIleThrValLysGlnLys)
|
rs2505516757
|
|
|
NM_001199138.2(NLRC4):c.904G>C (p.Glu302Gln)
|
rs2466761836
|
|
|
NM_001199198.3(TBC1D23):c.1505G>A (p.Arg502Lys)
|
rs2472209069
|
|
|
NM_001199397.3(NEK1):c.1208G>A (p.Arg403Lys)
|
rs778755268
|
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
|
NM_001199563.2(POPDC1):c.1073A>G (p.Gln358Arg)
|
rs2533502790
|
|
|
NM_001199563.2(POPDC1):c.467A>G (p.Lys156Arg)
|
rs2533540951
|
|
|
NM_001199563.2(POPDC1):c.569T>C (p.Leu190Pro)
|
rs2533538783
|
|
|
NM_001199563.2(POPDC1):c.572A>G (p.His191Arg)
|
rs1773585689
|
|
|
NM_001199563.2(POPDC1):c.64G>C (p.Glu22Gln)
|
rs775016758
|
|
|
NM_001199563.2(POPDC1):c.876G>A (p.Met292Ile)
|
rs2533526336
|
|
|
NM_001199563.2(POPDC1):c.938C>T (p.Thr313Ile)
|
rs1773321474
|
|
|
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
|
rs372564314
|
|
|
NM_001200.4(BMP2):c.816A>C (p.Lys272Asn)
|
rs2514426862
|
|
|
NM_001202.6(BMP4):c.101A>G (p.Lys34Arg)
|
rs1895466091
|
|
|
NM_001202.6(BMP4):c.43C>G (p.Gln15Glu)
|
rs1236268255
|
|
|
NM_001203.3(BMPR1B):c.746A>G (p.Gln249Arg)
|
rs187868598
|
|
|
NM_001205019.2(GK):c.683A>C (p.Glu228Ala)
|
rs2519285427
|
|
|
NM_001205254.2(OCLN):c.811A>G (p.Met271Val)
|
rs559132071
|
|
|
NM_001205254.2(OCLN):c.944A>T (p.Tyr315Phe)
|
rs1464959353
|
|
|
NM_001205293.3(CACNA1E):c.231T>G (p.Ile77Met)
|
rs1663547680
|
|
|
NM_001205293.3(CACNA1E):c.2588G>T (p.Arg863Leu)
|
rs202202209
|
|
|
NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln)
|
rs377580656
|
|
|
NM_001205293.3(CACNA1E):c.4661T>G (p.Ile1554Ser)
|
rs2529032617
|
|
|
NM_001205293.3(CACNA1E):c.494_497dup (p.Val167fs)
|
rs2526621799
|
|
|
NM_001205293.3(CACNA1E):c.6500G>T (p.Arg2167Leu)
|
rs370385055
|
|
|
NM_001206744.2(TPO):c.1277C>A (p.Ala426Glu)
|
rs61758082
|
|
|
NM_001206927.2(DNAH8):c.13546A>G (p.Asn4516Asp)
|
rs1218550898
|
|
|
NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)
|
rs780437636
|
|
|
NM_001206999.2(CIT):c.1121C>A (p.Pro374His)
|
rs200052993
|
|
|
NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp)
|
rs973228599
|
|
|
NM_001211.6(BUB1B):c.727A>G (p.Ile243Val)
|
rs997764298
|
|
|
NM_001212.4(C1QBP):c.478-7T>G
|
rs2507763644
|
|
|
NM_001220.5(CAMK2B):c.1597+1G>A
|
rs2096481520
|
|
|
NM_001220.5(CAMK2B):c.161-5C>G
|
rs747224603
|
|
|
NM_001220.5(CAMK2B):c.1639G>C (p.Glu547Gln)
|
rs2096393261
|
|
|
NM_001231.5(CASQ1):c.1176TGA[2] (p.Asp395_Asp396del)
|
rs754288969
|
|
|
NM_001231.5(CASQ1):c.134G>T (p.Gly45Val)
|
rs138101305
|
|
|
NM_001231.5(CASQ1):c.429G>C (p.Glu143Asp)
|
rs771410439
|
|
|
NM_001231.5(CASQ1):c.46del (p.Arg16fs)
|
rs2525040404
|
|
|
NM_001231.5(CASQ1):c.715C>G (p.Pro239Ala)
|
rs1011520558
|
|
|
NM_001231.5(CASQ1):c.748GAG[1] (p.Glu251del)
|
rs557262712
|
|
|
NM_001231.5(CASQ1):c.984+2T>G
|
rs1557816376
|
|
|
NM_001242882.2(NAXD):c.736G>A (p.Glu246Lys)
|
rs2501710087
|
|
|
NM_001242896.3(DEPDC5):c.1175G>A (p.Arg392His)
|
rs575467056
|
|
|
NM_001242896.3(DEPDC5):c.1706C>T (p.Ser569Phe)
|
rs2089435692
|
|
|
NM_001242896.3(DEPDC5):c.1910G>A (p.Arg637Gln)
|
rs751767527
|
|
|
NM_001242896.3(DEPDC5):c.4751A>T (p.Asp1584Val)
|
rs2523603225
|
|
|
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe)
|
rs778656662
|
|
|
NM_001243133.2(NLRP3):c.1798C>T (p.Gln600Ter)
|
rs2527274940
|
|
|
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
|
rs879255334
|
|
|
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
|
rs1445975674
|
|
|
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
|
rs761836264
|
|
|
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
|
rs2543618990
|
|
|
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
|
rs778572895
|
|
|
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
|
rs1475604530
|
|
|
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
|
rs769563671
|
|
|
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)
|
rs137995833
|
|
|
NM_001244008.2(KIF1A):c.1743C>T (p.Val581=)
|
rs2537728330
|
|
|
NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu)
|
rs2126098498
|
|
|
NM_001244008.2(KIF1A):c.1949+5G>A
|
rs1219571613
|
|
|
NM_001244008.2(KIF1A):c.2012A>C (p.Gln671Pro)
|
rs2050722674
|
|
|
NM_001244008.2(KIF1A):c.3247G>T (p.Ala1083Ser)
|
rs201793635
|
|
|
NM_001244008.2(KIF1A):c.3272C>A (p.Ala1091Asp)
|
rs2537290517
|
|
|
NM_001244008.2(KIF1A):c.3712G>T (p.Val1238Phe)
|
rs1190853674
|
|
|
NM_001244008.2(KIF1A):c.3994G>A (p.Ala1332Thr)
|
rs2537079155
|
|
|
NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr)
|
rs751798253
|
|
|
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)
|
rs572923181
|
|
|
NM_001244008.2(KIF1A):c.739G>A (p.Val247Met)
|
rs2538278006
|
|
|
NM_001244008.2(KIF1A):c.962G>A (p.Gly321Asp)
|
rs2537958061
|
|
|
NM_001244710.2(GFPT1):c.1416A>G (p.Ile472Met)
|
rs2466046558
|
|
|
NM_001253697.2(ERBIN):c.14dup (p.Ser6fs)
|
rs2546608990
|
|
|
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)
|
rs759495705
|
|
|
NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)
|
rs2526477815
|
|
|
NM_001256012.3(MYH10):c.3250C>A (p.Leu1084Met)
|
rs1436172615
|
|
|
NM_001256012.3(MYH10):c.784G>A (p.Val262Ile)
|
rs2082715886
|
|
|
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg)
|
rs2079442813
|
|
|
NM_001256071.3(RNF213):c.13939C>A (p.Arg4647Ser)
|
rs1286680063
|
|
|
NM_001256071.3(RNF213):c.2299_2300del (p.Leu767fs)
|
rs745937199
|
|
|
NM_001256071.3(RNF213):c.3025-2A>C
|
rs2511302478
|
|
|
NM_001256447.2(BCAP31):c.477+8del
|
rs1557047908
|
|
|
NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)
|
rs1557047242
|
|
|
NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys)
|
rs1023202749
|
|
|
NM_001256627.2(BRSK2):c.1063dup (p.Arg355fs)
|
rs779380593
|
|
|
NM_001256627.2(BRSK2):c.1563G>A (p.Trp521Ter)
|
rs2539737800
|
|
|
NM_001256627.2(BRSK2):c.2011G>T (p.Asp671Tyr)
|
rs1475185585
|
|
|
NM_001256627.2(BRSK2):c.202G>T (p.Ala68Ser)
|
rs1590535975
|
|
|
NM_001256627.2(BRSK2):c.409A>G (p.Ile137Val)
|
rs2539432239
|
|
|
NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)
|
rs2515510871
|
|
|
NM_001256789.3(CACNA1F):c.448G>C (p.Gly150Arg)
|
rs2147924995
|
|
|
NM_001257096.2(PAX1):c.1117T>G (p.Ser373Ala)
|
rs776478131
|
|
|
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
|
rs754338004
|
|
|
NM_001257096.2(PAX1):c.197dup (p.Ala67fs)
|
rs1984968688
|
|
|
NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del)
|
rs2487182166
|
|
|
NM_001257291.2(SLC9A7):c.1693G>A (p.Asp565Asn)
|
rs373308682
|
|
|
NM_001257291.2(SLC9A7):c.2171A>T (p.Asp724Val)
|
rs2519334174
|
|
|
NM_001257291.2(SLC9A7):c.460A>G (p.Thr154Ala)
|
rs1196966693
|
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
|
NM_001258392.3(CLPB):c.548T>A (p.Val183Glu)
|
rs2495666813
|
|
|
NM_001260.3(CDK8):c.129del
|
rs2542394998
|
|
|
NM_001260.3(CDK8):c.379A>G (p.Met127Val)
|
rs762544187
|
|
|
NM_001260.3(CDK8):c.747T>G (p.His249Gln)
|
rs2542441643
|
|
|
NM_001267550.2(TTN):c.10003T>C (p.Ser3335Pro)
|
rs1295621576
|
|
|
NM_001267550.2(TTN):c.100294C>T (p.Arg33432Cys)
|
rs878882035
|
|
|
NM_001267550.2(TTN):c.100313A>C (p.Lys33438Thr)
|
rs2468618307
|
|
|
NM_001267550.2(TTN):c.100343G>A (p.Arg33448Gln)
|
rs1315622743
|
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
|
NM_001267550.2(TTN):c.100582A>G (p.Lys33528Glu)
|
rs794729559
|
|
|
NM_001267550.2(TTN):c.100655A>G (p.Tyr33552Cys)
|
rs768683486
|
|
|
NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro)
|
rs373484505
|
|
|
NM_001267550.2(TTN):c.101090A>C (p.Lys33697Thr)
|
rs1691033741
|
|
|
NM_001267550.2(TTN):c.101243C>T (p.Thr33748Ile)
|
rs750315507
|
|
|
NM_001267550.2(TTN):c.101291C>A (p.Ala33764Asp)
|
rs773542514
|
|
|
NM_001267550.2(TTN):c.101347A>C (p.Lys33783Gln)
|
rs1690916622
|
|
|
NM_001267550.2(TTN):c.101797C>T (p.His33933Tyr)
|
rs1575285435
|
|
|
NM_001267550.2(TTN):c.101807G>C (p.Gly33936Ala)
|
rs753079587
|
|
|
NM_001267550.2(TTN):c.101817C>A (p.Asp33939Glu)
|
rs2154136212
|
|
|
NM_001267550.2(TTN):c.101890C>T (p.Arg33964Cys)
|
rs779064623
|
|
|
NM_001267550.2(TTN):c.101938G>A (p.Glu33980Lys)
|
rs2468544846
|
|
|
NM_001267550.2(TTN):c.101945A>T (p.Tyr33982Phe)
|
rs888342815
|
|
|
NM_001267550.2(TTN):c.102126T>C (p.Ile34042=)
|
rs1690569835
|
|
|
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn)
|
rs375002174
|
|
|
NM_001267550.2(TTN):c.102448G>A (p.Gly34150Arg)
|
rs2468524241
|
|
|
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys)
|
rs1559033550
|
|
|
NM_001267550.2(TTN):c.102647G>A (p.Gly34216Asp)
|
rs2468515164
|
|
|
NM_001267550.2(TTN):c.102649G>A (p.Glu34217Lys)
|
rs2468515080
|
|
|
NM_001267550.2(TTN):c.10264G>A (p.Val3422Ile)
|
rs2531932811
|
|
|
NM_001267550.2(TTN):c.102745G>A (p.Asp34249Asn)
|
rs1575271973
|
|
|
NM_001267550.2(TTN):c.102749C>A (p.Thr34250Lys)
|
rs1575271907
|
|
|
NM_001267550.2(TTN):c.102769C>T (p.Pro34257Ser)
|
rs895974400
|
|
|
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile)
|
rs794727542
|
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
|
NM_001267550.2(TTN):c.103014A>C (p.Lys34338Asn)
|
rs2468500110
|
|
|
NM_001267550.2(TTN):c.103306G>C (p.Val34436Leu)
|
rs770266280
|
|
|
NM_001267550.2(TTN):c.103408G>A (p.Glu34470Lys)
|
rs769023413
|
|
|
NM_001267550.2(TTN):c.103699G>T (p.Asp34567Tyr)
|
rs2468470508
|
|
|
NM_001267550.2(TTN):c.103723C>A (p.Arg34575Ser)
|
rs190866742
|
|
|
NM_001267550.2(TTN):c.103777A>C (p.Lys34593Gln)
|
rs1689768170
|
|
|
NM_001267550.2(TTN):c.103892T>C (p.Ile34631Thr)
|
rs776709904
|
|
|
NM_001267550.2(TTN):c.103901C>T (p.Pro34634Leu)
|
rs2468462689
|
|
|
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del)
|
rs774574734
|
|
|
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)
|
rs771366227
|
|
|
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His)
|
rs72629786
|
|
|
NM_001267550.2(TTN):c.104075C>T (p.Ser34692Leu)
|
rs771554717
|
|
|
NM_001267550.2(TTN):c.104080T>G (p.Ser34694Ala)
|
rs768203673
|
|
|
NM_001267550.2(TTN):c.104160G>T (p.Glu34720Asp)
|
rs2468452496
|
|
|
NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)
|
rs1689452294
|
|
|
NM_001267550.2(TTN):c.104384A>G (p.Lys34795Arg)
|
rs1689445201
|
|
|
NM_001267550.2(TTN):c.104393A>C (p.Lys34798Thr)
|
rs1236920305
|
|
|
NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro)
|
rs115150240
|
|
|
NM_001267550.2(TTN):c.104505ACT[1] (p.Leu34837del)
|
rs754577440
|
|
|
NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly)
|
rs377594642
|
|
|
NM_001267550.2(TTN):c.104702G>A (p.Arg34901Lys)
|
rs1689282112
|
|
|
NM_001267550.2(TTN):c.104776A>G (p.Arg34926Gly)
|
rs2468425211
|
|
|
NM_001267550.2(TTN):c.104792T>G (p.Leu34931Trp)
|
rs2468424503
|
|
|
NM_001267550.2(TTN):c.104889A>C (p.Leu34963Phe)
|
rs2468420596
|
|
|
NM_001267550.2(TTN):c.105123C>G (p.Ser35041=)
|
rs2468411916
|
|
|
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)
|
rs372875128
|
|
|
NM_001267550.2(TTN):c.105467C>T (p.Pro35156Leu)
|
rs538363206
|
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
|
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
|
rs2468392777
|
|
|
NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile)
|
rs770730954
|
|
|
NM_001267550.2(TTN):c.105907C>A (p.Leu35303Met)
|
rs2468380104
|
|
|
NM_001267550.2(TTN):c.106043A>G (p.Asn35348Ser)
|
rs2468375963
|
|
|
NM_001267550.2(TTN):c.106055C>A (p.Ser35352Tyr)
|
rs746512551
|
|
|
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)
|
rs886055218
|
|
|
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.106238C>G (p.Pro35413Arg)
|
rs1688567795
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
rs2468365185
|
|
|
NM_001267550.2(TTN):c.106292T>C (p.Val35431Ala)
|
rs770923321
|
|
|
NM_001267550.2(TTN):c.106304G>A (p.Ser35435Asn)
|
rs1423928961
|
|
|
NM_001267550.2(TTN):c.106330A>G (p.Thr35444Ala)
|
rs1688516881
|
|
|
NM_001267550.2(TTN):c.106454C>T (p.Ser35485Phe)
|
rs2468350879
|
|
|
NM_001267550.2(TTN):c.106525A>G (p.Ile35509Val)
|
rs1553482514
|
|
|
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer)
|
rs768256269
|
|
|
NM_001267550.2(TTN):c.106603G>A (p.Val35535Ile)
|
rs1553481274
|
|
|
NM_001267550.2(TTN):c.106607T>C (p.Val35536Ala)
|
rs1687854052
|
|
|
NM_001267550.2(TTN):c.106691A>G (p.Lys35564Arg)
|
rs917562823
|
|
|
NM_001267550.2(TTN):c.1066G>A (p.Glu356Lys)
|
rs144531477
|
|
|
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)
|
rs886055217
|
|
|
NM_001267550.2(TTN):c.106763T>C (p.Ile35588Thr)
|
rs777089547
|
|
|
NM_001267550.2(TTN):c.106802AAG[1] (p.Glu35602del)
|
rs746621748
|
|
|
NM_001267550.2(TTN):c.106903G>C (p.Asp35635His)
|
rs2468302761
|
|
|
NM_001267550.2(TTN):c.106911A>T (p.Lys35637Asn)
|
rs767045071
|
|
|
NM_001267550.2(TTN):c.1069del (p.Ala357fs)
|
rs2154356210
|
|
|
NM_001267550.2(TTN):c.107199C>G (p.Ile35733Met)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107290G>C (p.Ala35764Pro)
|
rs879048717
|
|
|
NM_001267550.2(TTN):c.107345A>G (p.Gln35782Arg)
|
rs1687434059
|
|
|
NM_001267550.2(TTN):c.107557G>A (p.Ala35853Thr)
|
rs1553477669
|
|
|
NM_001267550.2(TTN):c.107650del (p.Thr35884fs)
|
rs2468245066
|
|
|
NM_001267550.2(TTN):c.107690C>T (p.Pro35897Leu)
|
rs1558956138
|
|
|
NM_001267550.2(TTN):c.107730A>C (p.Glu35910Asp)
|
rs2154129973
|
|
|
NM_001267550.2(TTN):c.107813A>G (p.His35938Arg)
|
rs1233232821
|
|
|
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)
|
rs1575169924
|
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107851G>A (p.Asp35951Asn)
|
rs2154129841
|
|
|
NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile)
|
rs780886524
|
|
|
NM_001267550.2(TTN):c.1305G>A (p.Met435Ile)
|
rs2534052943
|
|
|
NM_001267550.2(TTN):c.1324G>A (p.Val442Met)
|
rs545579063
|
|
|
NM_001267550.2(TTN):c.1354A>T (p.Arg452Trp)
|
rs2534050203
|
|
|
NM_001267550.2(TTN):c.1364C>G (p.Thr455Arg)
|
rs368121196
|
|
|
NM_001267550.2(TTN):c.14111G>A (p.Arg4704Lys)
|
rs2530540960
|
|
|
NM_001267550.2(TTN):c.14163T>G (p.Cys4721Trp)
|
rs2154316749
|
|
|
NM_001267550.2(TTN):c.1419_1420delinsTT (p.Lys473_Thr474delinsAsnSer)
|
rs2533993138
|
|
|
NM_001267550.2(TTN):c.1426G>A (p.Val476Ile)
|
rs2533992685
|
|
|
NM_001267550.2(TTN):c.14357C>G (p.Thr4786Arg)
|
rs752484250
|
|
|
NM_001267550.2(TTN):c.1459A>G (p.Lys487Glu)
|
rs2093617530
|
|
|
NM_001267550.2(TTN):c.14783T>C (p.Leu4928Pro)
|
rs1347273297
|
|
|
NM_001267550.2(TTN):c.14884G>T (p.Ala4962Ser)
|
rs957102154
|
|
|
NM_001267550.2(TTN):c.14966C>T (p.Pro4989Leu)
|
rs1560844298
|
|
|
NM_001267550.2(TTN):c.15083T>G (p.Val5028Gly)
|
rs794727693
|
|
|
NM_001267550.2(TTN):c.15185G>T (p.Ser5062Ile)
|
rs371687650
|
|
|
NM_001267550.2(TTN):c.15247C>A (p.Pro5083Thr)
|
rs1465484453
|
|
|
NM_001267550.2(TTN):c.15385C>G (p.Leu5129Val)
|
rs1312330031
|
|
|
NM_001267550.2(TTN):c.15448G>A (p.Ala5150Thr)
|
rs2530268144
|
|
|
NM_001267550.2(TTN):c.15506C>G (p.Thr5169Ser)
|
rs761475085
|
|
|
NM_001267550.2(TTN):c.15553G>A (p.Val5185Ile)
|
rs370535651
|
|
|
NM_001267550.2(TTN):c.15778C>T (p.Pro5260Ser)
|
rs727505108
|
|
|
NM_001267550.2(TTN):c.15884A>G (p.Tyr5295Cys)
|
rs753916999
|
|
|
NM_001267550.2(TTN):c.15896G>C (p.Arg5299Thr)
|
rs563456537
|
|
|
NM_001267550.2(TTN):c.15998T>A (p.Phe5333Tyr)
|
rs2530193092
|
|
|
NM_001267550.2(TTN):c.16258G>A (p.Asp5420Asn)
|
rs765827073
|
|
|
NM_001267550.2(TTN):c.16283C>T (p.Thr5428Ile)
|
rs878911830
|
|
|
NM_001267550.2(TTN):c.16286G>A (p.Cys5429Tyr)
|
rs2530164943
|
|
|
NM_001267550.2(TTN):c.16367C>A (p.Pro5456His)
|
rs876658041
|
|
|
NM_001267550.2(TTN):c.16404C>G (p.Cys5468Trp)
|
rs944088736
|
|
|
NM_001267550.2(TTN):c.16415C>T (p.Thr5472Ile)
|
rs911246876
|
|
|
NM_001267550.2(TTN):c.1648G>A (p.Val550Ile)
|
rs759126894
|
|
|
NM_001267550.2(TTN):c.16564T>A (p.Cys5522Ser)
|
rs2080729558
|
|
|
NM_001267550.2(TTN):c.1657G>A (p.Glu553Lys)
|
rs749240152
|
|
|
NM_001267550.2(TTN):c.16750A>C (p.Ile5584Leu)
|
rs368116422
|
|
|
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser)
|
rs1060500588
|
|
|
NM_001267550.2(TTN):c.17018A>G (p.Asp5673Gly)
|
rs774163706
|
|
|
NM_001267550.2(TTN):c.17435G>T (p.Arg5812Ile)
|
rs1461562735
|
|
|
NM_001267550.2(TTN):c.1744G>A (p.Gly582Arg)
|
rs2093446026
|
|
|
NM_001267550.2(TTN):c.17461+1G>A
|
rs747990127
|
|
|
NM_001267550.2(TTN):c.17494A>G (p.Ile5832Val)
|
rs2080413008
|
|
|
NM_001267550.2(TTN):c.17614A>G (p.Ser5872Gly)
|
rs2530040600
|
|
|
NM_001267550.2(TTN):c.17636T>A (p.Ile5879Lys)
|
rs1560793812
|
|
|
NM_001267550.2(TTN):c.17660_17664del (p.Lys5887fs)
|
rs2530037738
|
|
|
NM_001267550.2(TTN):c.17746A>G (p.Ile5916Val)
|
rs2530019076
|
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
|
NM_001267550.2(TTN):c.18064G>A (p.Asp6022Asn)
|
rs767465221
|
|
|
NM_001267550.2(TTN):c.18197C>T (p.Ser6066Phe)
|
rs762434229
|
|
|
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys)
|
rs1280788914
|
|
|
NM_001267550.2(TTN):c.18608G>T (p.Arg6203Ile)
|
rs2529936639
|
|
|
NM_001267550.2(TTN):c.18662A>G (p.Glu6221Gly)
|
rs1365356147
|
|
|
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala)
|
rs794727818
|
|
|
NM_001267550.2(TTN):c.1870G>C (p.Asp624His)
|
rs2533774453
|
|
|
NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)
|
rs1440628720
|
|
|
NM_001267550.2(TTN):c.18848G>A (p.Ser6283Asn)
|
rs1283369258
|
|
|
NM_001267550.2(TTN):c.18857T>C (p.Val6286Ala)
|
rs372581135
|
|
|
NM_001267550.2(TTN):c.18966T>C (p.Ser6322=)
|
rs2529901991
|
|
|
NM_001267550.2(TTN):c.19101G>T (p.Lys6367Asn)
|
rs769617600
|
|
|
NM_001267550.2(TTN):c.19144C>T (p.Gln6382Ter)
|
rs2154306794
|
|
|
NM_001267550.2(TTN):c.19157A>C (p.Gln6386Pro)
|
rs1487828646
|
|
|
NM_001267550.2(TTN):c.19303T>C (p.Phe6435Leu)
|
rs2529869000
|
|
|
NM_001267550.2(TTN):c.19371C>G (p.Phe6457Leu)
|
rs2079784971
|
|
|
NM_001267550.2(TTN):c.19409C>T (p.Ala6470Val)
|
rs780014505
|
|
|
NM_001267550.2(TTN):c.19525C>T (p.Pro6509Ser)
|
rs764314153
|
|
|
NM_001267550.2(TTN):c.19563A>G (p.Ile6521Met)
|
rs747626326
|
|
|
NM_001267550.2(TTN):c.19663G>A (p.Val6555Met)
|
rs753901455
|
|
|
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
|
rs2529840041
|
|
|
NM_001267550.2(TTN):c.19714+3T>C
|
rs2529839647
|
|
|
NM_001267550.2(TTN):c.19799C>T (p.Thr6600Ile)
|
rs1355564295
|
|
|
NM_001267550.2(TTN):c.19996C>G (p.Pro6666Ala)
|
rs571231816
|
|
|
NM_001267550.2(TTN):c.20083C>T (p.Pro6695Ser)
|
rs1278595517
|
|
|
NM_001267550.2(TTN):c.20357G>A (p.Gly6786Glu)
|
rs2529712462
|
|
|
NM_001267550.2(TTN):c.20376G>T (p.Val6792=)
|
rs2529711754
|
|
|
NM_001267550.2(TTN):c.2047C>G (p.Gln683Glu)
|
rs1405488978
|
|
|
NM_001267550.2(TTN):c.20760T>C (p.Ala6920=)
|
rs2529689096
|
|
|
NM_001267550.2(TTN):c.2083G>T (p.Val695Phe)
|
rs747479318
|
|
|
NM_001267550.2(TTN):c.20893T>C (p.Cys6965Arg)
|
rs2529628942
|
|
|
NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser)
|
rs764035021
|
|
|
NM_001267550.2(TTN):c.21052T>C (p.Tyr7018His)
|
rs2529620065
|
|
|
NM_001267550.2(TTN):c.21058T>C (p.Phe7020Leu)
|
rs2529619892
|
|
|
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile)
|
rs878978917
|
|
|
NM_001267550.2(TTN):c.21416T>A (p.Phe7139Tyr)
|
rs374010248
|
|
|
NM_001267550.2(TTN):c.21575C>T (p.Ala7192Val)
|
rs1560705548
|
|
|
NM_001267550.2(TTN):c.21662C>T (p.Thr7221Ile)
|
rs1360941673
|
|
|
NM_001267550.2(TTN):c.22230C>G (p.Phe7410Leu)
|
rs747973968
|
|
|
NM_001267550.2(TTN):c.2234A>G (p.Lys745Arg)
|
rs2533557623
|
|
|
NM_001267550.2(TTN):c.22397A>T (p.Gln7466Leu)
|
rs2529488471
|
|
|
NM_001267550.2(TTN):c.22653T>A (p.Asp7551Glu)
|
rs371736246
|
|
|
NM_001267550.2(TTN):c.22700G>A (p.Gly7567Glu)
|
rs764311341
|
|
|
NM_001267550.2(TTN):c.23068G>T (p.Ala7690Ser)
|
rs763029699
|
|
|
NM_001267550.2(TTN):c.23147G>A (p.Gly7716Asp)
|
rs751284978
|
|
|
NM_001267550.2(TTN):c.23153A>G (p.Asp7718Gly)
|
rs1216947854
|
|
|
NM_001267550.2(TTN):c.23165A>G (p.Gln7722Arg)
|
rs2529366737
|
|
|
NM_001267550.2(TTN):c.23291T>C (p.Leu7764Pro)
|
rs1413753534
|
|
|
NM_001267550.2(TTN):c.23305G>A (p.Val7769Ile)
|
rs1553907172
|
|
|
NM_001267550.2(TTN):c.23493_23494del (p.Asp7831fs)
|
rs1057518145
|
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23599A>G (p.Ile7867Val)
|
rs1446627286
|
|
|
NM_001267550.2(TTN):c.23674A>G (p.Ile7892Val)
|
rs2078060561
|
|
|
NM_001267550.2(TTN):c.23675T>G (p.Ile7892Arg)
|
rs201181445
|
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
|
NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter)
|
rs794727941
|
|
|
NM_001267550.2(TTN):c.24221_24222del (p.Val8074fs)
|
rs2529288060
|
|
|
NM_001267550.2(TTN):c.2423G>A (p.Arg808His)
|
rs1423076539
|
|
|
NM_001267550.2(TTN):c.24341G>A (p.Gly8114Asp)
|
rs923868923
|
|
|
NM_001267550.2(TTN):c.24415G>C (p.Glu8139Gln)
|
rs1202623297
|
|
|
NM_001267550.2(TTN):c.24436G>A (p.Gly8146Arg)
|
rs2529272002
|
|
|
NM_001267550.2(TTN):c.24635C>A (p.Ser8212Ter)
|
rs2529260563
|
|
|
NM_001267550.2(TTN):c.24776C>A (p.Ser8259Tyr)
|
rs868000266
|
|
|
NM_001267550.2(TTN):c.24790C>T (p.Pro8264Ser)
|
rs2529246825
|
|
|
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)
|
rs727504205
|
|
|
NM_001267550.2(TTN):c.25087G>C (p.Ala8363Pro)
|
rs200972189
|
|
|
NM_001267550.2(TTN):c.25377T>A (p.Asp8459Glu)
|
rs2529201178
|
|
|
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)
|
rs777349143
|
|
|
NM_001267550.2(TTN):c.25489C>A (p.Arg8497Ser)
|
rs369517119
|
|
|
NM_001267550.2(TTN):c.25634T>C (p.Val8545Ala)
|
rs1313924560
|
|
|
NM_001267550.2(TTN):c.25639+1G>T
|
rs1220111705
|
|
|
NM_001267550.2(TTN):c.25756G>A (p.Asp8586Asn)
|
rs1199035064
|
|
|
NM_001267550.2(TTN):c.25856A>G (p.Asp8619Gly)
|
rs2077359221
|
|
|
NM_001267550.2(TTN):c.25919A>G (p.Lys8640Arg)
|
rs2529110513
|
|
|
NM_001267550.2(TTN):c.2594A>G (p.Lys865Arg)
|
rs560198011
|
|
|
NM_001267550.2(TTN):c.2609G>A (p.Arg870Lys)
|
rs2533458781
|
|
|
NM_001267550.2(TTN):c.26144G>T (p.Cys8715Phe)
|
rs183499397
|
|
|
NM_001267550.2(TTN):c.26170G>T (p.Asp8724Tyr)
|
rs756034176
|
|
|
NM_001267550.2(TTN):c.26218A>G (p.Lys8740Glu)
|
rs2529045378
|
|
|
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter)
|
rs778206438
|
|
|
NM_001267550.2(TTN):c.26489C>T (p.Ala8830Val)
|
rs976129365
|
|
|
NM_001267550.2(TTN):c.2659C>G (p.Pro887Ala)
|
rs2533455888
|
|
|
NM_001267550.2(TTN):c.26607G>A (p.Glu8869=)
|
rs747118425
|
|
|
NM_001267550.2(TTN):c.26654C>T (p.Ser8885Phe)
|
rs951646862
|
|
|
NM_001267550.2(TTN):c.2668T>C (p.Tyr890His)
|
rs2533455377
|
|
|
NM_001267550.2(TTN):c.2675G>C (p.Ser892Thr)
|
rs745946685
|
|
|
NM_001267550.2(TTN):c.26836G>A (p.Glu8946Lys)
|
rs2076934042
|
|
|
NM_001267550.2(TTN):c.26C>A (p.Thr9Lys)
|
rs146123323
|
|
|
NM_001267550.2(TTN):c.27030T>A (p.Ser9010Arg)
|
rs774115714
|
|
|
NM_001267550.2(TTN):c.27116C>T (p.Thr9039Ile)
|
rs1560585408
|
|
|
NM_001267550.2(TTN):c.27288A>C (p.Glu9096Asp)
|
rs775382008
|
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
|
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro)
|
rs376922544
|
|
|
NM_001267550.2(TTN):c.27506T>C (p.Leu9169Pro)
|
rs769078430
|
|
|
NM_001267550.2(TTN):c.27659A>G (p.Asp9220Gly)
|
rs2528876178
|
|
|
NM_001267550.2(TTN):c.27743C>T (p.Thr9248Ile)
|
rs397517523
|
|
|
NM_001267550.2(TTN):c.27905C>T (p.Ser9302Leu)
|
rs2528820687
|
|
|
NM_001267550.2(TTN):c.27950C>A (p.Pro9317Gln)
|
rs2528818638
|
|
|
NM_001267550.2(TTN):c.27956T>C (p.Val9319Ala)
|
rs2528818145
|
|
|
NM_001267550.2(TTN):c.28046C>T (p.Thr9349Ile)
|
rs749966898
|
|
|
NM_001267550.2(TTN):c.28072C>T (p.Leu9358Phe)
|
rs1266271972
|
|
|
NM_001267550.2(TTN):c.28123G>A (p.Ala9375Thr)
|
rs939996965
|
|
|
NM_001267550.2(TTN):c.28199A>C (p.Asp9400Ala)
|
rs1254441947
|
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
|
NM_001267550.2(TTN):c.28561C>T (p.Gln9521Ter)
|
rs1225914438
|
|
|
NM_001267550.2(TTN):c.28674G>C (p.Met9558Ile)
|
rs868771235
|
|
|
NM_001267550.2(TTN):c.28811G>A (p.Gly9604Glu)
|
rs1469017379
|
|
|
NM_001267550.2(TTN):c.29110C>G (p.Pro9704Ala)
|
rs1473433832
|
|
|
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val)
|
rs533172128
|
|
|
NM_001267550.2(TTN):c.29191T>C (p.Trp9731Arg)
|
rs1226902114
|
|
|
NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)
|
rs2075920978
|
|
|
NM_001267550.2(TTN):c.29220C>G (p.Asn9740Lys)
|
rs371745586
|
|
|
NM_001267550.2(TTN):c.29278G>T (p.Asp9760Tyr)
|
rs372537023
|
|
|
NM_001267550.2(TTN):c.2932A>G (p.Arg978Gly)
|
rs2533377466
|
|
|
NM_001267550.2(TTN):c.29545G>T (p.Gly9849Cys)
|
rs1560520810
|
|
|
NM_001267550.2(TTN):c.29584G>A (p.Glu9862Lys)
|
rs1413788633
|
|
|
NM_001267550.2(TTN):c.29597A>G (p.His9866Arg)
|
rs878919397
|
|
|
NM_001267550.2(TTN):c.29600G>C (p.Arg9867Thr)
|
rs2475275452
|
|
|
NM_001267550.2(TTN):c.29705T>G (p.Leu9902Arg)
|
rs1430193759
|
|
|
NM_001267550.2(TTN):c.29774T>C (p.Ile9925Thr)
|
rs2475226015
|
|
|
NM_001267550.2(TTN):c.29949A>T (p.Lys9983Asn)
|
rs2475213787
|
|
|
NM_001267550.2(TTN):c.29990A>G (p.Asp9997Gly)
|
rs1211337787
|
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
|
NM_001267550.2(TTN):c.30295T>C (p.Cys10099Arg)
|
rs2075201214
|
|
|
NM_001267550.2(TTN):c.30328T>G (p.Trp10110Gly)
|
rs1236742636
|
|
|
NM_001267550.2(TTN):c.30636G>T (p.Leu10212Phe)
|
rs1422813712
|
|
|
NM_001267550.2(TTN):c.30683-48_30683-45del
|
rs1447120694
|
|
|
NM_001267550.2(TTN):c.30749G>A (p.Arg10250His)
|
rs1346797878
|
|
|
NM_001267550.2(TTN):c.30797C>A (p.Ala10266Glu)
|
rs765103465
|
|
|
NM_001267550.2(TTN):c.30856A>G (p.Ile10286Val)
|
rs1384517646
|
|
|
NM_001267550.2(TTN):c.30889G>A (p.Glu10297Lys)
|
rs756360188
|
|
|
NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter)
|
rs1425322355
|
|
|
NM_001267550.2(TTN):c.3101T>A (p.Val1034Glu)
|
rs374667907
|
|
|
NM_001267550.2(TTN):c.31202A>G (p.Tyr10401Cys)
|
rs1212278171
|
|
|
NM_001267550.2(TTN):c.31238T>C (p.Val10413Ala)
|
rs794729405
|
|
|
NM_001267550.2(TTN):c.31295A>C (p.Lys10432Thr)
|
rs879134517
|
|
|
NM_001267550.2(TTN):c.31427-1G>T
|
rs2474592385
|
|
|
NM_001267550.2(TTN):c.31436T>C (p.Val10479Ala)
|
rs1194980208
|
|
|
NM_001267550.2(TTN):c.31660G>A (p.Glu10554Lys)
|
rs1352006092
|
|
|
NM_001267550.2(TTN):c.31700C>T (p.Pro10567Leu)
|
rs147670220
|
|
|
NM_001267550.2(TTN):c.31726C>T (p.Pro10576Ser)
|
rs2474505604
|
|
|
NM_001267550.2(TTN):c.31755C>T (p.Pro10585=)
|
rs2474504369
|
|
|
NM_001267550.2(TTN):c.32219G>A (p.Ser10740Asn)
|
rs2071387213
|
|
|
NM_001267550.2(TTN):c.32277GGA[2] (p.Glu10763del)
|
rs760761698
|
|
|
NM_001267550.2(TTN):c.32355C>A (p.His10785Gln)
|
rs2474222080
|
|
|
NM_001267550.2(TTN):c.32392+8G>A
|
rs895881881
|
|
|
NM_001267550.2(TTN):c.32509G>C (p.Val10837Leu)
|
rs1031380293
|
|
|
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val)
|
rs200732179
|
|
|
NM_001267550.2(TTN):c.32707C>G (p.Pro10903Ala)
|
rs2070257736
|
|
|
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln)
|
rs73973137
|
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del)
|
rs774683936
|
|
|
NM_001267550.2(TTN):c.32938G>C (p.Ala10980Pro)
|
rs2474070913
|
|
|
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)
|
rs181395238
|
|
|
NM_001267550.2(TTN):c.33164C>A (p.Pro11055Gln)
|
rs193051231
|
|
|
NM_001267550.2(TTN):c.33206C>T (p.Pro11069Leu)
|
rs1577342347
|
|
|
NM_001267550.2(TTN):c.33249G>T (p.Val11083=)
|
rs773979636
|
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.33524A>G (p.His11175Arg)
|
rs770309328
|
|
|
NM_001267550.2(TTN):c.33681G>C (p.Lys11227Asn)
|
rs2473881661
|
|
|
NM_001267550.2(TTN):c.33710T>C (p.Ile11237Thr)
|
rs372285899
|
|
|
NM_001267550.2(TTN):c.33754C>A (p.Pro11252Thr)
|
rs886055283
|
|
|
NM_001267550.2(TTN):c.33796C>G (p.Pro11266Ala)
|
rs201120871
|
|
|
NM_001267550.2(TTN):c.33878C>G (p.Ala11293Gly)
|
rs2473826943
|
|
|
NM_001267550.2(TTN):c.33965C>G (p.Pro11322Arg)
|
rs539800132
|
|
|
NM_001267550.2(TTN):c.33983C>G (p.Pro11328Arg)
|
rs2473805844
|
|
|
NM_001267550.2(TTN):c.34026_34027insCAGGAACT (p.Val11343fs)
|
rs2473792066
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.3409G>A (p.Gly1137Ser)
|
rs72647870
|
|
|
NM_001267550.2(TTN):c.34573A>T (p.Ile11525Phe)
|
rs2473618937
|
|
|
NM_001267550.2(TTN):c.34640T>C (p.Ile11547Thr)
|
rs2473584146
|
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
|
NM_001267550.2(TTN):c.34667C>G (p.Pro11556Arg)
|
rs2473583050
|
|
|
NM_001267550.2(TTN):c.3469G>C (p.Val1157Leu)
|
rs397517566
|
|
|
NM_001267550.2(TTN):c.34706G>C (p.Arg11569Thr)
|
rs751561118
|
|
|
NM_001267550.2(TTN):c.34756C>A (p.Pro11586Thr)
|
rs2473547704
|
|
|
NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln)
|
rs764974634
|
|
|
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His)
|
rs149883066
|
|
|
NM_001267550.2(TTN):c.34836dup (p.Glu11613fs)
|
rs2473501058
|
|
|
NM_001267550.2(TTN):c.34873A>G (p.Lys11625Glu)
|
rs2473486939
|
|
|
NM_001267550.2(TTN):c.34987A>G (p.Lys11663Glu)
|
rs2473469625
|
|
|
NM_001267550.2(TTN):c.35122C>T (p.His11708Tyr)
|
rs2473461652
|
|
|
NM_001267550.2(TTN):c.35168T>A (p.Ile11723Lys)
|
rs373022600
|
|
|
NM_001267550.2(TTN):c.35227+3A>G
|
rs1577214679
|
|
|
NM_001267550.2(TTN):c.35371G>A (p.Val11791Ile)
|
rs200587998
|
|
|
NM_001267550.2(TTN):c.36265del (p.Val12089fs)
|
rs2154259826
|
|
|
NM_001267550.2(TTN):c.3631T>C (p.Tyr1211His)
|
rs2533168249
|
|
|
NM_001267550.2(TTN):c.3639GTATGAAAAAGA[1] (p.1214YEKE[1])
|
rs762637057
|
|
|
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val)
|
rs576019235
|
|
|
NM_001267550.2(TTN):c.37300A>C (p.Lys12434Gln)
|
rs2064294894
|
|
|
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.3887G>A (p.Arg1296Lys)
|
rs2092554276
|
|
|
NM_001267550.2(TTN):c.39202C>G (p.Pro13068Ala)
|
rs372882834
|
|
|
NM_001267550.2(TTN):c.39290C>G (p.Pro13097Arg)
|
rs924318627
|
|
|
NM_001267550.2(TTN):c.3934T>C (p.Cys1312Arg)
|
rs2533094280
|
|
|
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del)
|
rs1292233616
|
|
|
NM_001267550.2(TTN):c.39499A>G (p.Lys13167Glu)
|
rs2472357943
|
|
|
NM_001267550.2(TTN):c.39529G>A (p.Glu13177Lys)
|
rs755543648
|
|
|
NM_001267550.2(TTN):c.39530A>G (p.Glu13177Gly)
|
rs2062945129
|
|
|
NM_001267550.2(TTN):c.39613C>T (p.Pro13205Ser)
|
rs2472345125
|
|
|
NM_001267550.2(TTN):c.397C>G (p.Pro133Ala)
|
rs556390708
|
|
|
NM_001267550.2(TTN):c.39817+1G>C
|
rs959064823
|
|
|
NM_001267550.2(TTN):c.40307C>T (p.Pro13436Leu)
|
rs574655603
|
|
|
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.4057GTT[1] (p.Val1354del)
|
rs878854304
|
|
|
NM_001267550.2(TTN):c.40732A>G (p.Ile13578Val)
|
rs2471773700
|
|
|
NM_001267550.2(TTN):c.40737G>T (p.Lys13579Asn)
|
rs2061031118
|
|
|
NM_001267550.2(TTN):c.40748C>G (p.Pro13583Arg)
|
rs780155095
|
|
|
NM_001267550.2(TTN):c.40888C>G (p.Pro13630Ala)
|
rs2471674716
|
|
|
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del)
|
rs747793660
|
|
|
NM_001267550.2(TTN):c.41104T>A (p.Ser13702Thr)
|
rs72650078
|
|
|
NM_001267550.2(TTN):c.41206G>T (p.Ala13736Ser)
|
rs540133480
|
|
|
NM_001267550.2(TTN):c.41220C>A (p.Asp13740Glu)
|
rs1559992349
|
|
|
NM_001267550.2(TTN):c.41361A>C (p.Glu13787Asp)
|
rs2471619962
|
|
|
NM_001267550.2(TTN):c.41543G>A (p.Gly13848Glu)
|
rs2471613105
|
|
|
NM_001267550.2(TTN):c.41641C>G (p.Arg13881Gly)
|
rs747469275
|
|
|
NM_001267550.2(TTN):c.41954A>G (p.Asp13985Gly)
|
rs779561282
|
|
|
NM_001267550.2(TTN):c.4208G>A (p.Arg1403Lys)
|
rs531590921
|
|
|
NM_001267550.2(TTN):c.42215G>A (p.Arg14072Gln)
|
rs747161377
|
|
|
NM_001267550.2(TTN):c.42328G>A (p.Val14110Ile)
|
rs1230881799
|
|
|
NM_001267550.2(TTN):c.42368C>T (p.Thr14123Ile)
|
rs2471545450
|
|
|
NM_001267550.2(TTN):c.42382G>A (p.Gly14128Ser)
|
rs1553743503
|
|
|
NM_001267550.2(TTN):c.42407_42410del (p.Phe14136fs)
|
rs2471543075
|
|
|
NM_001267550.2(TTN):c.42418A>T (p.Ile14140Leu)
|
rs2471529579
|
|
|
NM_001267550.2(TTN):c.42485T>C (p.Val14162Ala)
|
rs2471527767
|
|
|
NM_001267550.2(TTN):c.4254_4268dup (p.Pro1439_Gly1440insAlaArgMetSerPro)
|
rs2532976204
|
|
|
NM_001267550.2(TTN):c.42646A>T (p.Lys14216Ter)
|
rs1450576387
|
|
|
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2])
|
rs727503696
|
|
|
NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])
|
rs1561311092
|
|
|
NM_001267550.2(TTN):c.4283C>T (p.Ser1428Phe)
|
rs2092396286
|
|
|
NM_001267550.2(TTN):c.42853A>G (p.Ile14285Val)
|
rs771436214
|
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
|
NM_001267550.2(TTN):c.42950G>T (p.Arg14317Leu)
|
rs727505144
|
|
|
NM_001267550.2(TTN):c.42970C>A (p.Pro14324Thr)
|
rs2471501675
|
|
|
NM_001267550.2(TTN):c.43076C>G (p.Thr14359Arg)
|
rs779102939
|
|
|
NM_001267550.2(TTN):c.43174G>C (p.Ala14392Pro)
|
rs760934964
|
|
|
NM_001267550.2(TTN):c.43367T>G (p.Ile14456Arg)
|
rs2471472746
|
|
|
NM_001267550.2(TTN):c.43433T>A (p.Met14478Lys)
|
rs1576690561
|
|
|
NM_001267550.2(TTN):c.43502C>A (p.Thr14501Asn)
|
rs115825044
|
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
|
NM_001267550.2(TTN):c.43507C>T (p.Leu14503Phe)
|
rs1576686860
|
|
|
NM_001267550.2(TTN):c.43717A>T (p.Met14573Leu)
|
rs755610701
|
|
|
NM_001267550.2(TTN):c.43747+7G>A
|
rs766871366
|
|
|
NM_001267550.2(TTN):c.43747G>A (p.Glu14583Lys)
|
rs2471452371
|
|
|
NM_001267550.2(TTN):c.43750G>A (p.Gly14584Arg)
|
rs2154220286
|
|
|
NM_001267550.2(TTN):c.43796A>G (p.Glu14599Gly)
|
rs918346918
|
|
|
NM_001267550.2(TTN):c.43813C>A (p.Leu14605Ile)
|
rs1251970273
|
|
|
NM_001267550.2(TTN):c.43903G>A (p.Ala14635Thr)
|
rs2471416195
|
|
|
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg)
|
rs878896650
|
|
|
NM_001267550.2(TTN):c.43G>T (p.Val15Phe)
|
rs201857541
|
|
|
NM_001267550.2(TTN):c.44008A>G (p.Ile14670Val)
|
rs780593150
|
|
|
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe)
|
rs771361227
|
|
|
NM_001267550.2(TTN):c.44207G>C (p.Cys14736Ser)
|
rs2471377536
|
|
|
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.44287G>C (p.Val14763Leu)
|
rs919304894
|
|
|
NM_001267550.2(TTN):c.44295TCT[1] (p.Leu14767del)
|
rs1170277565
|
|
|
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)
|
rs747654057
|
|
|
NM_001267550.2(TTN):c.44461A>T (p.Thr14821Ser)
|
rs2471198739
|
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
|
NM_001267550.2(TTN):c.44683del (p.Ser14895fs)
|
rs886044263
|
|
|
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln)
|
rs762830792
|
|
|
NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala)
|
rs878854310
|
|
|
NM_001267550.2(TTN):c.4480+1G>A
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
rs367560855
|
|
|
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)
|
rs373109469
|
|
|
NM_001267550.2(TTN):c.45288T>A (p.Asp15096Glu)
|
rs1559881107
|
|
|
NM_001267550.2(TTN):c.45470A>G (p.Lys15157Arg)
|
rs2471038925
|
|
|
NM_001267550.2(TTN):c.45616+4A>G
|
rs2471032446
|
|
|
NM_001267550.2(TTN):c.45637C>T (p.Pro15213Ser)
|
rs867112278
|
|
|
NM_001267550.2(TTN):c.45704G>A (p.Gly15235Asp)
|
rs376949328
|
|
|
NM_001267550.2(TTN):c.45843G>A (p.Leu15281=)
|
rs574423141
|
|
|
NM_001267550.2(TTN):c.45966G>T (p.Trp15322Cys)
|
rs2058105154
|
|
|
NM_001267550.2(TTN):c.46139C>G (p.Ser15380Cys)
|
rs2058087229
|
|
|
NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)
|
rs1394331445
|
|
|
NM_001267550.2(TTN):c.46159A>C (p.Ile15387Leu)
|
rs761587912
|
|
|
NM_001267550.2(TTN):c.46208C>T (p.Thr15403Ile)
|
rs886042365
|
|
|
NM_001267550.2(TTN):c.46235G>A (p.Cys15412Tyr)
|
rs2058072206
|
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
|
NM_001267550.2(TTN):c.46649G>T (p.Arg15550Ile)
|
rs1229831088
|
|
|
NM_001267550.2(TTN):c.4667C>T (p.Pro1556Leu)
|
rs569025335
|
|
|
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg)
|
rs1553711574
|
|
|
NM_001267550.2(TTN):c.47183A>C (p.Tyr15728Ser)
|
rs1559849572
|
|
|
NM_001267550.2(TTN):c.47344C>T (p.Pro15782Ser)
|
rs749192459
|
|
|
NM_001267550.2(TTN):c.47381T>A (p.Val15794Asp)
|
rs2470879080
|
|
|
NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del)
|
rs398124453
|
|
|
NM_001267550.2(TTN):c.47420C>G (p.Thr15807Ser)
|
rs770409489
|
|
|
NM_001267550.2(TTN):c.47519G>A (p.Gly15840Glu)
|
rs1406279657
|
|
|
NM_001267550.2(TTN):c.47761G>C (p.Val15921Leu)
|
rs778682806
|
|
|
NM_001267550.2(TTN):c.47780G>T (p.Gly15927Val)
|
rs2057501392
|
|
|
NM_001267550.2(TTN):c.47818G>A (p.Ala15940Thr)
|
rs2470837637
|
|
|
NM_001267550.2(TTN):c.47846T>C (p.Leu15949Pro)
|
rs2057493473
|
|
|
NM_001267550.2(TTN):c.48022C>G (p.Arg16008Gly)
|
rs374233884
|
|
|
NM_001267550.2(TTN):c.48052G>A (p.Ala16018Thr)
|
rs1451009964
|
|
|
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys)
|
rs1185643168
|
|
|
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr)
|
rs1576492463
|
|
|
NM_001267550.2(TTN):c.48269A>G (p.Tyr16090Cys)
|
rs752903826
|
|
|
NM_001267550.2(TTN):c.48271G>C (p.Val16091Leu)
|
rs369143612
|
|
|
NM_001267550.2(TTN):c.48282A>C (p.Lys16094Asn)
|
rs2470803912
|
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
|
NM_001267550.2(TTN):c.48383A>C (p.Lys16128Thr)
|
rs2470760968
|
|
|
NM_001267550.2(TTN):c.48509A>C (p.Asn16170Thr)
|
rs370809363
|
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
|
NM_001267550.2(TTN):c.48575T>G (p.Val16192Gly)
|
rs2470733956
|
|
|
NM_001267550.2(TTN):c.48605G>C (p.Trp16202Ser)
|
rs2470732425
|
|
|
NM_001267550.2(TTN):c.48872C>T (p.Thr16291Ile)
|
rs2470679408
|
|
|
NM_001267550.2(TTN):c.49054C>A (p.Pro16352Thr)
|
rs2056897383
|
|
|
NM_001267550.2(TTN):c.49121C>T (p.Pro16374Leu)
|
rs780057619
|
|
|
NM_001267550.2(TTN):c.49621G>A (p.Glu16541Lys)
|
rs2056671421
|
|
|
NM_001267550.2(TTN):c.49627A>G (p.Ile16543Val)
|
rs756519277
|
|
|
NM_001267550.2(TTN):c.49682A>G (p.Lys16561Arg)
|
rs2470570007
|
|
|
NM_001267550.2(TTN):c.49787A>C (p.Asp16596Ala)
|
rs1353241545
|
|
|
NM_001267550.2(TTN):c.49799G>C (p.Arg16600Thr)
|
rs762853490
|
|
|
NM_001267550.2(TTN):c.49942A>G (p.Lys16648Glu)
|
rs727505156
|
|
|
NM_001267550.2(TTN):c.50044C>T (p.Pro16682Ser)
|
rs1231714517
|
|
|
NM_001267550.2(TTN):c.5011G>C (p.Glu1671Gln)
|
rs1368221848
|
|
|
NM_001267550.2(TTN):c.5017G>T (p.Ala1673Ser)
|
rs1270039804
|
|
|
NM_001267550.2(TTN):c.5021C>T (p.Ala1674Val)
|
rs1439467265
|
|
|
NM_001267550.2(TTN):c.50245T>C (p.Phe16749Leu)
|
rs878944282
|
|
|
NM_001267550.2(TTN):c.50378G>A (p.Arg16793Lys)
|
rs1446626288
|
|
|
NM_001267550.2(TTN):c.50547A>G (p.Pro16849=)
|
rs2470507839
|
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
|
NM_001267550.2(TTN):c.50884C>T (p.His16962Tyr)
|
rs2470481489
|
|
|
NM_001267550.2(TTN):c.50923C>T (p.Pro16975Ser)
|
rs2154199573
|
|
|
NM_001267550.2(TTN):c.50995_50997dup (p.Asp16999_Arg17000insAsp)
|
rs1413836585
|
|
|
NM_001267550.2(TTN):c.51018T>A (p.Asp17006Glu)
|
rs1163818093
|
|
|
NM_001267550.2(TTN):c.51071T>G (p.Ile17024Ser)
|
rs1389981053
|
|
|
NM_001267550.2(TTN):c.51179C>A (p.Thr17060Asn)
|
rs2470435715
|
|
|
NM_001267550.2(TTN):c.51301G>A (p.Glu17101Lys)
|
rs2470430082
|
|
|
NM_001267550.2(TTN):c.51367G>A (p.Ala17123Thr)
|
rs2055970282
|
|
|
NM_001267550.2(TTN):c.51437-1G>C
|
rs2055916646
|
|
|
NM_001267550.2(TTN):c.51442C>T (p.Pro17148Ser)
|
rs727504193
|
|
|
NM_001267550.2(TTN):c.51640G>A (p.Glu17214Lys)
|
rs769926361
|
|
|
NM_001267550.2(TTN):c.51658T>A (p.Phe17220Ile)
|
rs747296177
|
|
|
NM_001267550.2(TTN):c.51805G>A (p.Ala17269Thr)
|
rs778693629
|
|
|
NM_001267550.2(TTN):c.51900G>C (p.Leu17300Phe)
|
rs760140429
|
|
|
NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg)
|
rs368529230
|
|
|
NM_001267550.2(TTN):c.52184ATG[1] (p.Asp17396del)
|
rs2470356025
|
|
|
NM_001267550.2(TTN):c.5285T>C (p.Leu1762Pro)
|
rs2532881096
|
|
|
NM_001267550.2(TTN):c.52928G>T (p.Arg17643Leu)
|
rs571636340
|
|
|
NM_001267550.2(TTN):c.53137C>T (p.Leu17713=)
|
rs1008171003
|
|
|
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His)
|
rs757018821
|
|
|
NM_001267550.2(TTN):c.53549A>C (p.Glu17850Ala)
|
rs780284047
|
|
|
NM_001267550.2(TTN):c.53659C>T (p.Arg17887Cys)
|
rs771307468
|
|
|
NM_001267550.2(TTN):c.53810T>A (p.Val17937Asp)
|
rs1559723150
|
|
|
NM_001267550.2(TTN):c.53822A>T (p.Asn17941Ile)
|
rs75257026
|
|
|
NM_001267550.2(TTN):c.53859T>A (p.Asn17953Lys)
|
rs769210939
|
|
|
NM_001267550.2(TTN):c.53920G>A (p.Asp17974Asn)
|
rs2054499878
|
|
|
NM_001267550.2(TTN):c.53969T>G (p.Val17990Gly)
|
rs1553682352
|
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
|
NM_001267550.2(TTN):c.54148C>G (p.Arg18050Gly)
|
rs55734111
|
|
|
NM_001267550.2(TTN):c.54150C>T (p.Arg18050=)
|
rs2470169770
|
|
|
NM_001267550.2(TTN):c.54523G>A (p.Val18175Ile)
|
rs776320086
|
|
|
NM_001267550.2(TTN):c.54539A>G (p.Lys18180Arg)
|
rs1283224972
|
|
|
NM_001267550.2(TTN):c.54610G>A (p.Glu18204Lys)
|
rs749849370
|
|
|
NM_001267550.2(TTN):c.54874G>A (p.Gly18292Arg)
|
rs377512675
|
|
|
NM_001267550.2(TTN):c.54973C>G (p.Pro18325Ala)
|
rs374713945
|
|
|
NM_001267550.2(TTN):c.55288C>T (p.Pro18430Ser)
|
rs970752412
|
|
|
NM_001267550.2(TTN):c.55426G>C (p.Val18476Leu)
|
rs780649835
|
|
|
NM_001267550.2(TTN):c.55530G>A (p.Arg18510=)
|
rs1165541106
|
|
|
NM_001267550.2(TTN):c.55603A>T (p.Ser18535Cys)
|
rs770105954
|
|
|
NM_001267550.2(TTN):c.55615G>A (p.Val18539Ile)
|
rs1060500557
|
|
|
NM_001267550.2(TTN):c.55616T>C (p.Val18539Ala)
|
rs573082979
|
|
|
NM_001267550.2(TTN):c.55618G>T (p.Val18540Leu)
|
rs2053409641
|
|
|
NM_001267550.2(TTN):c.556A>T (p.Thr186Ser)
|
rs1486250871
|
|
|
NM_001267550.2(TTN):c.55735C>T (p.Pro18579Ser)
|
rs912809911
|
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
|
NM_001267550.2(TTN):c.55847T>C (p.Val18616Ala)
|
rs2053304882
|
|
|
NM_001267550.2(TTN):c.55909C>A (p.Arg18637Ser)
|
rs374151130
|
|
|
NM_001267550.2(TTN):c.55978A>C (p.Lys18660Gln)
|
rs2469976956
|
|
|
NM_001267550.2(TTN):c.56118C>T (p.Ala18706=)
|
rs1559671858
|
|
|
NM_001267550.2(TTN):c.56245T>A (p.Leu18749Ile)
|
rs2469902814
|
|
|
NM_001267550.2(TTN):c.5626C>T (p.Leu1876Phe)
|
rs1419821413
|
|
|
NM_001267550.2(TTN):c.56479G>A (p.Ala18827Thr)
|
rs1280578786
|
|
|
NM_001267550.2(TTN):c.56482A>G (p.Asn18828Asp)
|
rs2469887904
|
|
|
NM_001267550.2(TTN):c.56619T>G (p.Ser18873Arg)
|
rs794729462
|
|
|
NM_001267550.2(TTN):c.56657G>A (p.Gly18886Glu)
|
rs1421176024
|
|
|
NM_001267550.2(TTN):c.56662C>T (p.Pro18888Ser)
|
rs755206756
|
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
|
NM_001267550.2(TTN):c.56915G>A (p.Gly18972Asp)
|
rs755417012
|
|
|
NM_001267550.2(TTN):c.57032C>G (p.Pro19011Arg)
|
rs2469850151
|
|
|
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)
|
rs749887998
|
|
|
NM_001267550.2(TTN):c.57126A>C (p.Glu19042Asp)
|
rs2469819736
|
|
|
NM_001267550.2(TTN):c.57176A>G (p.Tyr19059Cys)
|
rs2469817586
|
|
|
NM_001267550.2(TTN):c.57182TTAGAG[1] (p.Val19063_Arg19064del)
|
rs2032645411
|
|
|
NM_001267550.2(TTN):c.57307G>A (p.Val19103Ile)
|
rs2469804331
|
|
|
NM_001267550.2(TTN):c.57441C>T (p.Ser19147=)
|
rs2052069695
|
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
|
NM_001267550.2(TTN):c.57544+3A>T
|
rs2469792624
|
|
|
NM_001267550.2(TTN):c.57653A>T (p.Asn19218Ile)
|
rs1270810724
|
|
|
NM_001267550.2(TTN):c.579del (p.Gln194fs)
|
rs2534360075
|
|
|
NM_001267550.2(TTN):c.58150+3_58150+6dup
|
rs746841401
|
|
|
NM_001267550.2(TTN):c.58198G>C (p.Val19400Leu)
|
rs2469618772
|
|
|
NM_001267550.2(TTN):c.58274C>T (p.Ala19425Val)
|
rs727504525
|
|
|
NM_001267550.2(TTN):c.58399T>C (p.Ser19467Pro)
|
rs920055688
|
|
|
NM_001267550.2(TTN):c.58445C>T (p.Pro19482Leu)
|
rs746380279
|
|
|
NM_001267550.2(TTN):c.58555AAG[1] (p.Lys19520del)
|
rs1477512850
|
|
|
NM_001267550.2(TTN):c.58601G>C (p.Ser19534Thr)
|
rs563833549
|
|
|
NM_001267550.2(TTN):c.58759A>G (p.Ile19587Val)
|
rs916546048
|
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
|
NM_001267550.2(TTN):c.58927G>A (p.Asp19643Asn)
|
rs794729464
|
|
|
NM_001267550.2(TTN):c.5909C>A (p.Thr1970Asn)
|
rs886042215
|
|
|
NM_001267550.2(TTN):c.59118T>C (p.His19706=)
|
rs2469557142
|
|
|
NM_001267550.2(TTN):c.59442A>G (p.Pro19814=)
|
rs1304742332
|
|
|
NM_001267550.2(TTN):c.59466AGA[1] (p.Glu19823del)
|
rs1216617786
|
|
|
NM_001267550.2(TTN):c.59472C>G (p.Asp19824Glu)
|
rs2469535163
|
|
|
NM_001267550.2(TTN):c.59477A>G (p.Asp19826Gly)
|
rs2469534939
|
|
|
NM_001267550.2(TTN):c.59615T>C (p.Val19872Ala)
|
rs2469530405
|
|
|
NM_001267550.2(TTN):c.59684A>G (p.Tyr19895Cys)
|
rs1355833226
|
|
|
NM_001267550.2(TTN):c.59907C>G (p.Ile19969Met)
|
rs2469506717
|
|
|
NM_001267550.2(TTN):c.5993G>T (p.Arg1998Leu)
|
rs144135510
|
|
|
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)
|
rs761360903
|
|
|
NM_001267550.2(TTN):c.60137A>G (p.Tyr20046Cys)
|
rs1290494704
|
|
|
NM_001267550.2(TTN):c.60175G>T (p.Gly20059Cys)
|
rs778467153
|
|
|
NM_001267550.2(TTN):c.6029A>T (p.Tyr2010Phe)
|
rs397517672
|
|
|
NM_001267550.2(TTN):c.60345T>A (p.Asp20115Glu)
|
rs376618165
|
|
|
NM_001267550.2(TTN):c.60377C>A (p.Thr20126Lys)
|
rs772536475
|
|
|
NM_001267550.2(TTN):c.60439G>A (p.Gly20147Arg)
|
rs2469471921
|
|
|
NM_001267550.2(TTN):c.60620A>T (p.Tyr20207Phe)
|
rs1325560371
|
|
|
NM_001267550.2(TTN):c.61161A>G (p.Thr20387=)
|
rs1576089893
|
|
|
NM_001267550.2(TTN):c.61483C>G (p.Arg20495Gly)
|
rs370128504
|
|
|
NM_001267550.2(TTN):c.61664G>A (p.Ser20555Asn)
|
rs1559577387
|
|
|
NM_001267550.2(TTN):c.62009G>A (p.Gly20670Asp)
|
rs1307936736
|
|
|
NM_001267550.2(TTN):c.62029A>G (p.Ile20677Val)
|
rs2469405024
|
|
|
NM_001267550.2(TTN):c.62395C>T (p.Pro20799Ser)
|
rs1300626441
|
|
|
NM_001267550.2(TTN):c.62619T>G (p.Ile20873Met)
|
rs2469378537
|
|
|
NM_001267550.2(TTN):c.62650T>C (p.Cys20884Arg)
|
rs2154183548
|
|
|
NM_001267550.2(TTN):c.6272A>G (p.Gln2091Arg)
|
rs879012357
|
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
|
NM_001267550.2(TTN):c.62947G>C (p.Val20983Leu)
|
rs878904625
|
|
|
NM_001267550.2(TTN):c.63126T>C (p.Asn21042=)
|
rs2469355878
|
|
|
NM_001267550.2(TTN):c.63194C>T (p.Pro21065Leu)
|
rs2049459670
|
|
|
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup)
|
rs750904641
|
|
|
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn)
|
rs558727238
|
|
|
NM_001267550.2(TTN):c.63292G>C (p.Gly21098Arg)
|
rs2469326713
|
|
|
NM_001267550.2(TTN):c.63329C>G (p.Ala21110Gly)
|
rs370687831
|
|
|
NM_001267550.2(TTN):c.6332G>C (p.Trp2111Ser)
|
rs2092127553
|
|
|
NM_001267550.2(TTN):c.63353G>A (p.Arg21118Gln)
|
rs755796313
|
|
|
NM_001267550.2(TTN):c.63403T>G (p.Leu21135Val)
|
rs1218574817
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.63664G>A (p.Val21222Ile)
|
rs2469303039
|
|
|
NM_001267550.2(TTN):c.63667G>A (p.Asp21223Asn)
|
rs753562502
|
|
|
NM_001267550.2(TTN):c.63719A>G (p.Asp21240Gly)
|
rs2049308903
|
|
|
NM_001267550.2(TTN):c.63761A>C (p.Glu21254Ala)
|
rs2469298689
|
|
|
NM_001267550.2(TTN):c.63766G>C (p.Ala21256Pro)
|
rs1277491841
|
|
|
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter)
|
rs754781119
|
|
|
NM_001267550.2(TTN):c.64324G>A (p.Ala21442Thr)
|
rs886042279
|
|
|
NM_001267550.2(TTN):c.64392A>C (p.Gln21464His)
|
rs2469238957
|
|
|
NM_001267550.2(TTN):c.64650G>C (p.Gln21550His)
|
rs2469171390
|
|
|
NM_001267550.2(TTN):c.64671G>A (p.Met21557Ile)
|
rs786205387
|
|
|
NM_001267550.2(TTN):c.64714A>G (p.Ile21572Val)
|
rs2469159188
|
|
|
NM_001267550.2(TTN):c.64727C>T (p.Ala21576Val)
|
rs2469158719
|
|
|
NM_001267550.2(TTN):c.64733C>G (p.Ser21578Cys)
|
rs758914564
|
|
|
NM_001267550.2(TTN):c.65016C>A (p.Asn21672Lys)
|
rs1452681242
|
|
|
NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln)
|
rs368450785
|
|
|
NM_001267550.2(TTN):c.65185G>C (p.Glu21729Gln)
|
rs375439506
|
|
|
NM_001267550.2(TTN):c.65263A>G (p.Arg21755Gly)
|
rs2469132314
|
|
|
NM_001267550.2(TTN):c.65315G>A (p.Ser21772Asn)
|
rs768613983
|
|
|
NM_001267550.2(TTN):c.65364A>C (p.Lys21788Asn)
|
rs1354434033
|
|
|
NM_001267550.2(TTN):c.65370T>G (p.Ile21790Met)
|
rs764130758
|
|
|
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile)
|
rs373848128
|
|
|
NM_001267550.2(TTN):c.65607G>A (p.Met21869Ile)
|
rs960935807
|
|
|
NM_001267550.2(TTN):c.65693A>T (p.Lys21898Ile)
|
rs2048146420
|
|
|
NM_001267550.2(TTN):c.65888T>C (p.Val21963Ala)
|
rs2469033557
|
|
|
NM_001267550.2(TTN):c.66145G>T (p.Ala22049Ser)
|
rs2047965308
|
|
|
NM_001267550.2(TTN):c.66161A>G (p.Asp22054Gly)
|
rs2469016573
|
|
|
NM_001267550.2(TTN):c.66251G>T (p.Gly22084Val)
|
rs2469013630
|
|
|
NM_001267550.2(TTN):c.66308C>T (p.Thr22103Ile)
|
rs1283761812
|
|
|
NM_001267550.2(TTN):c.66380A>C (p.Glu22127Ala)
|
rs1289473781
|
|
|
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)
|
rs763729258
|
|
|
NM_001267550.2(TTN):c.66386G>T (p.Arg22129Leu)
|
rs187257105
|
|
|
NM_001267550.2(TTN):c.66558C>A (p.Ser22186Arg)
|
rs750211489
|
|
|
NM_001267550.2(TTN):c.6656A>G (p.Lys2219Arg)
|
rs1482793298
|
|
|
NM_001267550.2(TTN):c.66581A>T (p.Glu22194Val)
|
rs1425317708
|
|
|
NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe)
|
rs540425352
|
|
|
NM_001267550.2(TTN):c.66821G>A (p.Arg22274His)
|
rs772979195
|
|
|
NM_001267550.2(TTN):c.66957G>C (p.Leu22319Phe)
|
rs1060503928
|
|
|
NM_001267550.2(TTN):c.67054C>T (p.Leu22352Phe)
|
rs2468924557
|
|
|
NM_001267550.2(TTN):c.67081G>A (p.Val22361Met)
|
rs2468916730
|
|
|
NM_001267550.2(TTN):c.6708T>G (p.Ile2236Met)
|
rs2092039928
|
|
|
NM_001267550.2(TTN):c.67181G>A (p.Arg22394His)
|
rs777333661
|
|
|
NM_001267550.2(TTN):c.6720T>A (p.Asp2240Glu)
|
rs149404931
|
|
|
NM_001267550.2(TTN):c.67270T>C (p.Tyr22424His)
|
rs974697497
|
|
|
NM_001267550.2(TTN):c.6733A>T (p.Ser2245Cys)
|
rs2532780481
|
|
|
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala)
|
rs1553622176
|
|
|
NM_001267550.2(TTN):c.67648C>T (p.Leu22550Phe)
|
rs2468877951
|
|
|
NM_001267550.2(TTN):c.67900G>A (p.Gly22634Arg)
|
rs2468869487
|
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
|
NM_001267550.2(TTN):c.68236G>A (p.Ala22746Thr)
|
rs1443692023
|
|
|
NM_001267550.2(TTN):c.68329+2_68329+3insTT
|
rs536078303
|
|
|
NM_001267550.2(TTN):c.68336A>G (p.His22779Arg)
|
rs2046870032
|
|
|
NM_001267550.2(TTN):c.68440T>C (p.Tyr22814His)
|
rs2468813581
|
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
|
NM_001267550.2(TTN):c.68788G>A (p.Glu22930Lys)
|
rs2468792776
|
|
|
NM_001267550.2(TTN):c.6885A>G (p.Ile2295Met)
|
rs2532730453
|
|
|
NM_001267550.2(TTN):c.68860G>T (p.Asp22954Tyr)
|
rs941453959
|
|
|
NM_001267550.2(TTN):c.68888C>T (p.Thr22963Ile)
|
rs2468780609
|
|
|
NM_001267550.2(TTN):c.68944T>C (p.Ser22982Pro)
|
rs2468778454
|
|
|
NM_001267550.2(TTN):c.69023A>G (p.Lys23008Arg)
|
rs765816052
|
|
|
NM_001267550.2(TTN):c.69421G>C (p.Gly23141Arg)
|
rs1291311240
|
|
|
NM_001267550.2(TTN):c.69430G>A (p.Glu23144Lys)
|
rs2468749180
|
|
|
NM_001267550.2(TTN):c.69515C>A (p.Thr23172Lys)
|
rs752643010
|
|
|
NM_001267550.2(TTN):c.69568A>G (p.Ile23190Val)
|
rs762698812
|
|
|
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.69916C>A (p.Leu23306Ile)
|
rs2468716988
|
|
|
NM_001267550.2(TTN):c.69937A>G (p.Asn23313Asp)
|
rs2468716202
|
|
|
NM_001267550.2(TTN):c.70067T>C (p.Val23356Ala)
|
rs2468709952
|
|
|
NM_001267550.2(TTN):c.70091T>C (p.Ile23364Thr)
|
rs2468708900
|
|
|
NM_001267550.2(TTN):c.70371C>A (p.Asp23457Glu)
|
rs2468696436
|
|
|
NM_001267550.2(TTN):c.70615C>G (p.Leu23539Val)
|
rs979501326
|
|
|
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu)
|
rs368325616
|
|
|
NM_001267550.2(TTN):c.70885A>G (p.Met23629Val)
|
rs988918025
|
|
|
NM_001267550.2(TTN):c.70903C>A (p.Leu23635Ile)
|
rs2468666012
|
|
|
NM_001267550.2(TTN):c.71025A>C (p.Lys23675Asn)
|
rs2154171999
|
|
|
NM_001267550.2(TTN):c.71047G>A (p.Glu23683Lys)
|
rs1709569972
|
|
|
NM_001267550.2(TTN):c.71080A>G (p.Asn23694Asp)
|
rs1432742107
|
|
|
NM_001267550.2(TTN):c.71096G>A (p.Ser23699Asn)
|
rs2468657384
|
|
|
NM_001267550.2(TTN):c.71104G>A (p.Gly23702Arg)
|
rs750853901
|
|
|
NM_001267550.2(TTN):c.71177T>C (p.Ile23726Thr)
|
rs2468654366
|
|
|
NM_001267550.2(TTN):c.71183G>C (p.Gly23728Ala)
|
rs781300567
|
|
|
NM_001267550.2(TTN):c.71188C>A (p.Pro23730Thr)
|
rs1709530947
|
|
|
NM_001267550.2(TTN):c.71194G>C (p.Gly23732Arg)
|
rs747116393
|
|
|
NM_001267550.2(TTN):c.71260G>A (p.Asp23754Asn)
|
rs985842925
|
|
|
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)
|
rs2468650185
|
|
|
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.71398C>T (p.Arg23800Cys)
|
rs760839756
|
|
|
NM_001267550.2(TTN):c.7150G>A (p.Val2384Met)
|
rs1230235808
|
|
|
NM_001267550.2(TTN):c.71683A>T (p.Ile23895Phe)
|
rs1709363147
|
|
|
NM_001267550.2(TTN):c.71779C>G (p.Pro23927Ala)
|
rs2468625744
|
|
|
NM_001267550.2(TTN):c.72041C>T (p.Pro24014Leu)
|
rs2468612922
|
|
|
NM_001267550.2(TTN):c.72104T>G (p.Phe24035Cys)
|
rs759861907
|
|
|
NM_001267550.2(TTN):c.7214T>C (p.Ile2405Thr)
|
rs776126188
|
|
|
NM_001267550.2(TTN):c.72248T>C (p.Phe24083Ser)
|
rs2468603923
|
|
|
NM_001267550.2(TTN):c.7226C>A (p.Ser2409Tyr)
|
rs769246937
|
|
|
NM_001267550.2(TTN):c.72279AAG[1] (p.Arg24095del)
|
rs2468602580
|
|
|
NM_001267550.2(TTN):c.72418T>C (p.Cys24140Arg)
|
rs768746312
|
|
|
NM_001267550.2(TTN):c.72517G>C (p.Val24173Leu)
|
rs1709023380
|
|
|
NM_001267550.2(TTN):c.72673C>G (p.Pro24225Ala)
|
rs2468586243
|
|
|
NM_001267550.2(TTN):c.72698C>T (p.Thr24233Ile)
|
rs768359972
|
|
|
NM_001267550.2(TTN):c.72707A>T (p.Lys24236Ile)
|
rs2468584676
|
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
|
NM_001267550.2(TTN):c.72925A>C (p.Ser24309Arg)
|
rs2468574358
|
|
|
NM_001267550.2(TTN):c.72949G>A (p.Ala24317Thr)
|
rs770455724
|
|
|
NM_001267550.2(TTN):c.73183T>C (p.Tyr24395His)
|
rs1489927926
|
|
|
NM_001267550.2(TTN):c.73385_73387delinsCC (p.Trp24462fs)
|
rs1553607425
|
|
|
NM_001267550.2(TTN):c.73472G>T (p.Arg24491Ile)
|
rs2468547718
|
|
|
NM_001267550.2(TTN):c.73495_73497del (p.Leu24499del)
|
rs2468546580
|
|
|
NM_001267550.2(TTN):c.73625C>G (p.Pro24542Arg)
|
rs901760899
|
|
|
NM_001267550.2(TTN):c.73843G>C (p.Glu24615Gln)
|
rs374131909
|
|
|
NM_001267550.2(TTN):c.7417G>A (p.Val2473Met)
|
rs1204779013
|
|
|
NM_001267550.2(TTN):c.74221G>A (p.Gly24741Ser)
|
rs2468513349
|
|
|
NM_001267550.2(TTN):c.74262A>G (p.Val24754=)
|
rs745865847
|
|
|
NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly)
|
rs368071644
|
|
|
NM_001267550.2(TTN):c.7459C>T (p.Pro2487Ser)
|
rs759448340
|
|
|
NM_001267550.2(TTN):c.74602A>C (p.Ile24868Leu)
|
rs72646898
|
|
|
NM_001267550.2(TTN):c.74608G>C (p.Ala24870Pro)
|
rs768892376
|
|
|
NM_001267550.2(TTN):c.74627_74631delinsAA (p.Gly24876_Cys24877delinsGlu)
|
rs2468496337
|
|
|
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)
|
rs148920986
|
|
|
NM_001267550.2(TTN):c.74794C>G (p.Pro24932Ala)
|
rs878982463
|
|
|
NM_001267550.2(TTN):c.74807G>A (p.Gly24936Glu)
|
rs1708105505
|
|
|
NM_001267550.2(TTN):c.74935T>C (p.Tyr24979His)
|
rs1364199300
|
|
|
NM_001267550.2(TTN):c.74953G>T (p.Ala24985Ser)
|
rs878874875
|
|
|
NM_001267550.2(TTN):c.75202G>A (p.Val25068Ile)
|
rs2468470694
|
|
|
NM_001267550.2(TTN):c.7522C>T (p.His2508Tyr)
|
rs2532673667
|
|
|
NM_001267550.2(TTN):c.75359C>T (p.Thr25120Ile)
|
rs878854333
|
|
|
NM_001267550.2(TTN):c.75451_75453del (p.Glu25151del)
|
rs886038885
|
|
|
NM_001267550.2(TTN):c.75481A>C (p.Lys25161Gln)
|
rs2468459444
|
|
|
NM_001267550.2(TTN):c.75562A>G (p.Asn25188Asp)
|
rs2468455930
|
|
|
NM_001267550.2(TTN):c.75581C>T (p.Ser25194Leu)
|
rs2468455229
|
|
|
NM_001267550.2(TTN):c.75727G>C (p.Glu25243Gln)
|
rs1114167338
|
|
|
NM_001267550.2(TTN):c.75854A>G (p.Tyr25285Cys)
|
rs2468444071
|
|
|
NM_001267550.2(TTN):c.75937G>A (p.Val25313Ile)
|
rs2468440109
|
|
|
NM_001267550.2(TTN):c.7595-7del
|
rs774519095
|
|
|
NM_001267550.2(TTN):c.76016A>G (p.Tyr25339Cys)
|
rs1485371555
|
|
|
NM_001267550.2(TTN):c.76187A>G (p.Tyr25396Cys)
|
rs1060500403
|
|
|
NM_001267550.2(TTN):c.7628C>A (p.Thr2543Asn)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.7628C>T (p.Thr2543Ile)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.76430A>G (p.Tyr25477Cys)
|
rs2468416996
|
|
|
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala)
|
rs377754701
|
|
|
NM_001267550.2(TTN):c.76502T>C (p.Val25501Ala)
|
rs768730615
|
|
|
NM_001267550.2(TTN):c.76590A>T (p.Leu25530Phe)
|
rs184034300
|
|
|
NM_001267550.2(TTN):c.76670T>G (p.Ile25557Ser)
|
rs758441370
|
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.76836A>C (p.Glu25612Asp)
|
rs1707240113
|
|
|
NM_001267550.2(TTN):c.77041T>C (p.Tyr25681His)
|
rs2468390328
|
|
|
NM_001267550.2(TTN):c.77221C>T (p.His25741Tyr)
|
rs756616171
|
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
|
NM_001267550.2(TTN):c.77389G>C (p.Glu25797Gln)
|
rs753331124
|
|
|
NM_001267550.2(TTN):c.77408C>T (p.Ala25803Val)
|
rs1706938707
|
|
|
NM_001267550.2(TTN):c.77617G>A (p.Ala25873Thr)
|
rs1370812389
|
|
|
NM_001267550.2(TTN):c.77732C>A (p.Ser25911Tyr)
|
rs772557856
|
|
|
NM_001267550.2(TTN):c.77746T>C (p.Leu25916=)
|
rs1243488306
|
|
|
NM_001267550.2(TTN):c.77753C>T (p.Thr25918Ile)
|
rs1484655947
|
|
|
NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu)
|
rs780196850
|
|
|
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)
|
rs754571796
|
|
|
NM_001267550.2(TTN):c.78166G>A (p.Glu26056Lys)
|
rs2468344140
|
|
|
NM_001267550.2(TTN):c.78370A>G (p.Ile26124Val)
|
rs397517713
|
|
|
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)
|
rs778290450
|
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
|
NM_001267550.2(TTN):c.7876C>T (p.Leu2626Phe)
|
rs944728845
|
|
|
NM_001267550.2(TTN):c.78833C>T (p.Pro26278Leu)
|
rs2468318188
|
|
|
NM_001267550.2(TTN):c.78890C>A (p.Thr26297Asn)
|
rs2468316298
|
|
|
NM_001267550.2(TTN):c.78964T>G (p.Tyr26322Asp)
|
rs2468313154
|
|
|
NM_001267550.2(TTN):c.79187C>A (p.Thr26396Lys)
|
rs2468305392
|
|
|
NM_001267550.2(TTN):c.79211C>G (p.Thr26404Ser)
|
rs786205300
|
|
|
NM_001267550.2(TTN):c.79228C>T (p.Pro26410Ser)
|
rs2468303938
|
|
|
NM_001267550.2(TTN):c.79267G>A (p.Val26423Ile)
|
rs1706066147
|
|
|
NM_001267550.2(TTN):c.79307G>A (p.Cys26436Tyr)
|
rs2468300572
|
|
|
NM_001267550.2(TTN):c.79355C>T (p.Thr26452Ile)
|
rs375061238
|
|
|
NM_001267550.2(TTN):c.7945A>G (p.Lys2649Glu)
|
rs769037510
|
|
|
NM_001267550.2(TTN):c.794C>A (p.Ser265Tyr)
|
rs1574979177
|
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
|
NM_001267550.2(TTN):c.79667A>T (p.His26556Leu)
|
rs1705904861
|
|
|
NM_001267550.2(TTN):c.79806TGT[1] (p.Val26604del)
|
rs776591304
|
|
|
NM_001267550.2(TTN):c.79814G>A (p.Arg26605Lys)
|
rs1263615793
|
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
|
NM_001267550.2(TTN):c.79871T>A (p.Ile26624Asn)
|
rs373540030
|
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
|
NM_001267550.2(TTN):c.80029A>T (p.Thr26677Ser)
|
rs2154165331
|
|
|
NM_001267550.2(TTN):c.80035A>C (p.Lys26679Gln)
|
rs2468272028
|
|
|
NM_001267550.2(TTN):c.80293G>C (p.Val26765Leu)
|
rs2468262967
|
|
|
NM_001267550.2(TTN):c.80303C>T (p.Pro26768Leu)
|
rs2468262526
|
|
|
NM_001267550.2(TTN):c.80896A>C (p.Ser26966Arg)
|
rs1705281282
|
|
|
NM_001267550.2(TTN):c.80930T>G (p.Val26977Gly)
|
rs774769114
|
|
|
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)
|
rs550999055
|
|
|
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del)
|
rs1163103954
|
|
|
NM_001267550.2(TTN):c.81206C>A (p.Pro27069Gln)
|
rs2468225556
|
|
|
NM_001267550.2(TTN):c.8134A>T (p.Thr2712Ser)
|
rs886042774
|
|
|
NM_001267550.2(TTN):c.81440T>A (p.Val27147Asp)
|
rs1705028389
|
|
|
NM_001267550.2(TTN):c.81466G>A (p.Gly27156Ser)
|
rs1705015217
|
|
|
NM_001267550.2(TTN):c.81515A>T (p.Asp27172Val)
|
rs1248956657
|
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
|
NM_001267550.2(TTN):c.81874A>C (p.Thr27292Pro)
|
rs1421947280
|
|
|
NM_001267550.2(TTN):c.81875C>T (p.Thr27292Ile)
|
rs1060500393
|
|
|
NM_001267550.2(TTN):c.81928T>C (p.Ser27310Pro)
|
rs794727454
|
|
|
NM_001267550.2(TTN):c.81974T>C (p.Ile27325Thr)
|
rs1226922213
|
|
|
NM_001267550.2(TTN):c.8230G>C (p.Gly2744Arg)
|
rs2532505739
|
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
|
NM_001267550.2(TTN):c.82411G>A (p.Gly27471Ser)
|
rs757130634
|
|
|
NM_001267550.2(TTN):c.82624T>A (p.Phe27542Ile)
|
rs1704452293
|
|
|
NM_001267550.2(TTN):c.82624T>C (p.Phe27542Leu)
|
rs1704452293
|
|
|
NM_001267550.2(TTN):c.82C>T (p.His28Tyr)
|
rs752309578
|
|
|
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.83368C>A (p.Pro27790Thr)
|
rs1427845923
|
|
|
NM_001267550.2(TTN):c.83438A>G (p.Tyr27813Cys)
|
rs2468131679
|
|
|
NM_001267550.2(TTN):c.83612C>T (p.Thr27871Ile)
|
rs746421338
|
|
|
NM_001267550.2(TTN):c.83869_83871del (p.Arg27957del)
|
rs2469719472
|
|
|
NM_001267550.2(TTN):c.83902C>A (p.Pro27968Thr)
|
rs541254027
|
|
|
NM_001267550.2(TTN):c.8421G>C (p.Leu2807Phe)
|
rs1490843963
|
|
|
NM_001267550.2(TTN):c.84426A>C (p.Glu28142Asp)
|
rs1559300683
|
|
|
NM_001267550.2(TTN):c.84451C>A (p.Pro28151Thr)
|
rs727504873
|
|
|
NM_001267550.2(TTN):c.845C>A (p.Ser282Tyr)
|
rs878981404
|
|
|
NM_001267550.2(TTN):c.84625A>G (p.Ile28209Val)
|
rs753472730
|
|
|
NM_001267550.2(TTN):c.84716A>G (p.Lys28239Arg)
|
rs2469692058
|
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
|
NM_001267550.2(TTN):c.85147G>T (p.Gly28383Trp)
|
rs1333175409
|
|
|
NM_001267550.2(TTN):c.85432G>T (p.Asp28478Tyr)
|
rs375744985
|
|
|
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)
|
rs56330345
|
|
|
NM_001267550.2(TTN):c.854C>G (p.Pro285Arg)
|
rs1307517578
|
|
|
NM_001267550.2(TTN):c.85528T>G (p.Cys28510Gly)
|
rs2469665387
|
|
|
NM_001267550.2(TTN):c.85624A>T (p.Ile28542Leu)
|
rs554841820
|
|
|
NM_001267550.2(TTN):c.85625T>C (p.Ile28542Thr)
|
rs2469661230
|
|
|
NM_001267550.2(TTN):c.85679C>G (p.Thr28560Ser)
|
rs1703208399
|
|
|
NM_001267550.2(TTN):c.8573C>A (p.Pro2858His)
|
rs370094744
|
|
|
NM_001267550.2(TTN):c.85769G>C (p.Arg28590Pro)
|
rs375667028
|
|
|
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His)
|
rs1477861188
|
|
|
NM_001267550.2(TTN):c.86125G>C (p.Glu28709Gln)
|
rs562860372
|
|
|
NM_001267550.2(TTN):c.86445C>G (p.Ala28815=)
|
rs1459326742
|
|
|
NM_001267550.2(TTN):c.86497_86498delinsAA (p.Ala28833Asn)
|
rs794729519
|
|
|
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.86738C>T (p.Ala28913Val)
|
rs2469616430
|
|
|
NM_001267550.2(TTN):c.869C>A (p.Pro290His)
|
rs749759581
|
|
|
NM_001267550.2(TTN):c.87205T>C (p.Ser29069Pro)
|
rs2469558650
|
|
|
NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His)
|
rs1181280302
|
|
|
NM_001267550.2(TTN):c.87484C>T (p.Pro29162Ser)
|
rs2469548233
|
|
|
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)
|
rs753636173
|
|
|
NM_001267550.2(TTN):c.87631C>T (p.Arg29211Cys)
|
rs557805163
|
|
|
NM_001267550.2(TTN):c.87730C>T (p.Pro29244Ser)
|
rs779810701
|
|
|
NM_001267550.2(TTN):c.87745G>A (p.Val29249Ile)
|
rs2469531115
|
|
|
NM_001267550.2(TTN):c.87949G>A (p.Ala29317Thr)
|
rs2469523437
|
|
|
NM_001267550.2(TTN):c.8796G>C (p.Gln2932His)
|
rs2532462797
|
|
|
NM_001267550.2(TTN):c.88016C>T (p.Pro29339Leu)
|
rs2469511971
|
|
|
NM_001267550.2(TTN):c.88028G>C (p.Arg29343Pro)
|
rs73036368
|
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
|
NM_001267550.2(TTN):c.88196G>A (p.Gly29399Asp)
|
rs1701744078
|
|
|
NM_001267550.2(TTN):c.88259_88260delinsTT (p.Ser29420Ile)
|
rs2469502628
|
|
|
NM_001267550.2(TTN):c.88471A>T (p.Asn29491Tyr)
|
rs2469406420
|
|
|
NM_001267550.2(TTN):c.88606C>T (p.Pro29536Ser)
|
rs2469392683
|
|
|
NM_001267550.2(TTN):c.88612G>A (p.Gly29538Ser)
|
rs2469392430
|
|
|
NM_001267550.2(TTN):c.88646AGA[1] (p.Lys29550del)
|
rs1378235711
|
|
|
NM_001267550.2(TTN):c.88787C>T (p.Thr29596Ile)
|
rs786205371
|
|
|
NM_001267550.2(TTN):c.88831G>A (p.Val29611Met)
|
rs79299277
|
|
|
NM_001267550.2(TTN):c.88898C>G (p.Thr29633Arg)
|
rs374868660
|
|
|
NM_001267550.2(TTN):c.88994T>C (p.Ile29665Thr)
|
rs2469355293
|
|
|
NM_001267550.2(TTN):c.89098_89100del (p.Glu29700del)
|
rs765495361
|
|
|
NM_001267550.2(TTN):c.89156T>C (p.Phe29719Ser)
|
rs2469348662
|
|
|
NM_001267550.2(TTN):c.89215G>C (p.Ala29739Pro)
|
rs1700259287
|
|
|
NM_001267550.2(TTN):c.89392T>G (p.Ser29798Ala)
|
rs886055232
|
|
|
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala)
|
rs201620815
|
|
|
NM_001267550.2(TTN):c.89516T>C (p.Ile29839Thr)
|
rs2469323059
|
|
|
NM_001267550.2(TTN):c.89527G>A (p.Val29843Met)
|
rs376014865
|
|
|
NM_001267550.2(TTN):c.89530G>C (p.Ala29844Pro)
|
rs2469322366
|
|
|
NM_001267550.2(TTN):c.89765A>T (p.Lys29922Met)
|
rs2469315171
|
|
|
NM_001267550.2(TTN):c.90049G>A (p.Glu30017Lys)
|
rs1559211738
|
|
|
NM_001267550.2(TTN):c.90128C>T (p.Thr30043Ile)
|
rs2469302673
|
|
|
NM_001267550.2(TTN):c.90184A>T (p.Ile30062Phe)
|
rs931535269
|
|
|
NM_001267550.2(TTN):c.90382A>C (p.Thr30128Pro)
|
rs183939928
|
|
|
NM_001267550.2(TTN):c.90614T>A (p.Ile30205Asn)
|
rs1283032526
|
|
|
NM_001267550.2(TTN):c.90614T>C (p.Ile30205Thr)
|
rs1283032526
|
|
|
NM_001267550.2(TTN):c.90655G>C (p.Val30219Leu)
|
rs1559205149
|
|
|
NM_001267550.2(TTN):c.90680A>T (p.Lys30227Met)
|
rs2469282039
|
|
|
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr)
|
rs879126335
|
|
|
NM_001267550.2(TTN):c.91055G>A (p.Gly30352Asp)
|
rs1415254742
|
|
|
NM_001267550.2(TTN):c.91089G>C (p.Lys30363Asn)
|
rs762103106
|
|
|
NM_001267550.2(TTN):c.91254A>T (p.Leu30418Phe)
|
rs2469260470
|
|
|
NM_001267550.2(TTN):c.91356T>G (p.Ser30452Arg)
|
rs2469239172
|
|
|
NM_001267550.2(TTN):c.91370A>G (p.Tyr30457Cys)
|
rs1006244466
|
|
|
NM_001267550.2(TTN):c.91464T>G (p.Pro30488=)
|
rs780989266
|
|
|
NM_001267550.2(TTN):c.91808A>G (p.Asn30603Ser)
|
rs794729533
|
|
|
NM_001267550.2(TTN):c.91880T>C (p.Ile30627Thr)
|
rs747482573
|
|
|
NM_001267550.2(TTN):c.91909A>T (p.Met30637Leu)
|
rs751394805
|
|
|
NM_001267550.2(TTN):c.91967T>G (p.Ile30656Ser)
|
rs775922403
|
|
|
NM_001267550.2(TTN):c.91971T>G (p.Ile30657Met)
|
rs888042945
|
|
|
NM_001267550.2(TTN):c.9216G>T (p.Lys3072Asn)
|
rs1182000652
|
|
|
NM_001267550.2(TTN):c.92384T>C (p.Val30795Ala)
|
rs1415270216
|
|
|
NM_001267550.2(TTN):c.92397T>G (p.Asn30799Lys)
|
rs1240107488
|
|
|
NM_001267550.2(TTN):c.9251C>T (p.Pro3084Leu)
|
rs1033996370
|
|
|
NM_001267550.2(TTN):c.92542G>A (p.Asp30848Asn)
|
rs2469151177
|
|
|
NM_001267550.2(TTN):c.92803C>A (p.His30935Asn)
|
rs2469143704
|
|
|
NM_001267550.2(TTN):c.9282C>A (p.Asp3094Glu)
|
rs2154341526
|
|
|
NM_001267550.2(TTN):c.92906G>A (p.Arg30969Gln)
|
rs751345368
|
|
|
NM_001267550.2(TTN):c.92918A>G (p.His30973Arg)
|
rs2469140000
|
|
|
NM_001267550.2(TTN):c.93058C>T (p.Pro31020Ser)
|
rs944645264
|
|
|
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys)
|
rs750213547
|
|
|
NM_001267550.2(TTN):c.93370_93372del (p.Asp31124del)
|
rs2469120412
|
|
|
NM_001267550.2(TTN):c.93515C>G (p.Thr31172Arg)
|
rs2469116575
|
|
|
NM_001267550.2(TTN):c.93542A>G (p.Glu31181Gly)
|
rs2469115555
|
|
|
NM_001267550.2(TTN):c.93692G>A (p.Ser31231Asn)
|
rs1060500565
|
|
|
NM_001267550.2(TTN):c.93704T>C (p.Ile31235Thr)
|
rs1246425366
|
|
|
NM_001267550.2(TTN):c.93881_93886del (p.Ala31294_Gly31295del)
|
rs772807300
|
|
|
NM_001267550.2(TTN):c.93949G>A (p.Glu31317Lys)
|
rs2469102705
|
|
|
NM_001267550.2(TTN):c.94045C>G (p.Arg31349Gly)
|
rs727503549
|
|
|
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.94523A>G (p.Asp31508Gly)
|
rs772571812
|
|
|
NM_001267550.2(TTN):c.94546A>G (p.Thr31516Ala)
|
rs2469070186
|
|
|
NM_001267550.2(TTN):c.94720C>G (p.Leu31574Val)
|
rs759654688
|
|
|
NM_001267550.2(TTN):c.9472G>C (p.Val3158Leu)
|
rs748114137
|
|
|
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg)
|
rs1697305563
|
|
|
NM_001267550.2(TTN):c.94937A>G (p.Lys31646Arg)
|
rs2469049712
|
|
|
NM_001267550.2(TTN):c.95136T>G (p.Cys31712Trp)
|
rs2469034625
|
|
|
NM_001267550.2(TTN):c.95188A>T (p.Ser31730Cys)
|
rs1213250473
|
|
|
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)
|
rs1553520967
|
|
|
NM_001267550.2(TTN):c.95447A>T (p.Glu31816Val)
|
rs1226499081
|
|
|
NM_001267550.2(TTN):c.95648T>C (p.Val31883Ala)
|
rs2469009138
|
|
|
NM_001267550.2(TTN):c.95744C>T (p.Ala31915Val)
|
rs1553519431
|
|
|
NM_001267550.2(TTN):c.95774G>A (p.Ser31925Asn)
|
rs2468969421
|
|
|
NM_001267550.2(TTN):c.95851_95853del (p.Lys31951del)
|
rs752016475
|
|
|
NM_001267550.2(TTN):c.95967C>G (p.Asn31989Lys)
|
rs775762346
|
|
|
NM_001267550.2(TTN):c.95998A>C (p.Ile32000Leu)
|
rs769971164
|
|
|
NM_001267550.2(TTN):c.96049G>A (p.Ala32017Thr)
|
rs2468956034
|
|
|
NM_001267550.2(TTN):c.96125C>T (p.Pro32042Leu)
|
rs879110168
|
|
|
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg)
|
rs755545981
|
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.96413A>T (p.Asn32138Ile)
|
rs2468934536
|
|
|
NM_001267550.2(TTN):c.96503G>A (p.Gly32168Glu)
|
rs745694652
|
|
|
NM_001267550.2(TTN):c.96599C>T (p.Ser32200Leu)
|
rs2468929578
|
|
|
NM_001267550.2(TTN):c.9675C>G (p.Asn3225Lys)
|
rs1244268787
|
|
|
NM_001267550.2(TTN):c.96830T>A (p.Ile32277Lys)
|
rs2468922335
|
|
|
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys)
|
rs1060500512
|
|
|
NM_001267550.2(TTN):c.96947T>C (p.Ile32316Thr)
|
rs1366924258
|
|
|
NM_001267550.2(TTN):c.97052A>G (p.Glu32351Gly)
|
rs879109633
|
|
|
NM_001267550.2(TTN):c.9706C>A (p.Pro3236Thr)
|
rs2532193862
|
|
|
NM_001267550.2(TTN):c.97143GAA[1] (p.Lys32382del)
|
rs1233184037
|
|
|
NM_001267550.2(TTN):c.97190T>G (p.Leu32397Arg)
|
rs940758255
|
|
|
NM_001267550.2(TTN):c.97221T>G (p.Ile32407Met)
|
rs2468893399
|
|
|
NM_001267550.2(TTN):c.97333C>T (p.Pro32445Ser)
|
rs2468889985
|
|
|
NM_001267550.2(TTN):c.97436G>T (p.Arg32479Leu)
|
rs369845358
|
|
|
NM_001267550.2(TTN):c.97444A>G (p.Ile32482Val)
|
rs2468885885
|
|
|
NM_001267550.2(TTN):c.97495A>G (p.Ile32499Val)
|
rs2468851847
|
|
|
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)
|
rs755848026
|
|
|
NM_001267550.2(TTN):c.97530T>A (p.Asp32510Glu)
|
rs375612373
|
|
|
NM_001267550.2(TTN):c.97776C>A (p.Ile32592=)
|
rs375166890
|
|
|
NM_001267550.2(TTN):c.98069C>T (p.Pro32690Leu)
|
rs1457945906
|
|
|
NM_001267550.2(TTN):c.98209A>C (p.Lys32737Gln)
|
rs2468779339
|
|
|
NM_001267550.2(TTN):c.9841_9842del (p.Thr3281fs)
|
rs2090036916
|
|
|
NM_001267550.2(TTN):c.98524G>T (p.Ala32842Ser)
|
rs199647622
|
|
|
NM_001267550.2(TTN):c.9852G>C (p.Lys3284Asn)
|
rs2532187524
|
|
|
NM_001267550.2(TTN):c.98675C>T (p.Thr32892Ile)
|
rs2468763204
|
|
|
NM_001267550.2(TTN):c.9870T>A (p.Asp3290Glu)
|
rs727503680
|
|
|
NM_001267550.2(TTN):c.98803G>C (p.Glu32935Gln)
|
rs1407053984
|
|
|
NM_001267550.2(TTN):c.98843A>G (p.Asn32948Ser)
|
rs2468749402
|
|
|
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.99158T>G (p.Ile33053Ser)
|
rs1692880660
|
|
|
NM_001267550.2(TTN):c.991C>G (p.Gln331Glu)
|
rs1165547526
|
|
|
NM_001267550.2(TTN):c.99258A>C (p.Arg33086Ser)
|
rs2468727605
|
|
|
NM_001267550.2(TTN):c.99283C>T (p.Leu33095Phe)
|
rs2468726451
|
|
|
NM_001267550.2(TTN):c.99349G>T (p.Ala33117Ser)
|
rs878926959
|
|
|
NM_001267550.2(TTN):c.99400T>G (p.Trp33134Gly)
|
rs2468685546
|
|
|
NM_001267550.2(TTN):c.99497A>G (p.Glu33166Gly)
|
rs2468681759
|
|
|
NM_001267550.2(TTN):c.99628G>A (p.Val33210Met)
|
rs2468676925
|
|
|
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)
|
rs377598016
|
|
|
NM_001267550.2(TTN):c.99767T>A (p.Met33256Lys)
|
rs1172517136
|
|
|
NM_001270.4(CHD1):c.1082G>T (p.Arg361Ile)
|
rs1485727052
|
|
|
NM_001270.4(CHD1):c.1165C>A (p.Gln389Lys)
|
rs1751499792
|
|
|
NM_001270.4(CHD1):c.1177C>T (p.Arg393Cys)
|
rs2479694524
|
|
|
NM_001270.4(CHD1):c.2336C>T (p.Ala779Val)
|
rs755689913
|
|
|
NM_001270.4(CHD1):c.2434C>G (p.Gln812Glu)
|
rs2479600819
|
|
|
NM_001270.4(CHD1):c.2606T>C (p.Leu869Pro)
|
rs2479553986
|
|
|
NM_001270.4(CHD1):c.2964+3A>G
|
rs760755215
|
|
|
NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)
|
rs374166699
|
|
|
NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)
|
rs201110676
|
|
|
NM_001270.4(CHD1):c.607A>C (p.Lys203Gln)
|
rs1284676463
|
|
|
NM_001270.4(CHD1):c.966G>A (p.Trp322Ter)
|
rs2479702743
|
|
|
NM_001270508.2(TNFAIP3):c.113A>G (p.His38Arg)
|
rs2482708176
|
|
|
NM_001270508.2(TNFAIP3):c.1474A>C (p.Asn492His)
|
rs1776343024
|
|
|
NM_001270508.2(TNFAIP3):c.649A>C (p.Ser217Arg)
|
rs1276578378
|
|
|
NM_001271.4(CHD2):c.2001-4del
|
rs2505515613
|
|
|
NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser)
|
rs2505526631
|
|
|
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys)
|
rs2054200484
|
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
|
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
|
rs2505599458
|
|
|
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)
|
rs2052525047
|
|
|
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp)
|
rs745311012
|
|
|
NM_001271.4(CHD2):c.4289G>A (p.Gly1430Asp)
|
rs2505607915
|
|
|
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp)
|
rs776113114
|
|
|
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
|
rs1596458229
|
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
|
NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly)
|
rs1468532398
|
|
|
NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr)
|
rs2505650591
|
|
|
NM_001271.4(CHD2):c.522A>C (p.Lys174Asn)
|
rs573405690
|
|
|
NM_001271.4(CHD2):c.955A>G (p.Ser319Gly)
|
rs2505447028
|
|
|
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
|
rs2519823522
|
|
|
NM_001273.5(CHD4):c.4138C>T (p.Arg1380Cys)
|
rs2540383017
|
|
|
NM_001273.5(CHD4):c.4810G>A (p.Asp1604Asn)
|
rs201471909
|
|
|
NM_001273.5(CHD4):c.4883_4884del (p.Glu1628fs)
|
rs2540378578
|
|
|
NM_001273.5(CHD4):c.5472G>C (p.Glu1824Asp)
|
rs1271091451
|
|
|
NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln)
|
rs397514600
|
|
|
NM_001276345.2(TNNT2):c.295G>A (p.Asp99Asn)
|
rs2527017662
|
|
|
NM_001276451.2(DRGX):c.235-1G>C
|
rs2495845287
|
|
|
NM_001277115.2(DNAH11):c.10009A>G (p.Ile3337Val)
|
rs145645790
|
|
|
NM_001277115.2(DNAH11):c.11379G>T (p.Leu3793Phe)
|
rs1199865481
|
|
|
NM_001277115.2(DNAH11):c.11663G>A (p.Arg3888His)
|
rs72658812
|
|
|
NM_001277115.2(DNAH11):c.11999C>A (p.Thr4000Asn)
|
rs1783570244
|
|
|
NM_001277115.2(DNAH11):c.6463C>T (p.Leu2155Phe)
|
rs1784195701
|
|
|
NM_001277115.2(DNAH11):c.8558T>C (p.Leu2853Ser)
|
rs1053893041
|
|
|
NM_001277115.2(DNAH11):c.9781G>A (p.Glu3261Lys)
|
rs2535262718
|
|
|
NM_001278064.2(GRM1):c.1720G>A (p.Asp574Asn)
|
rs1776532788
|
|
|
NM_001278064.2(GRM1):c.32C>G (p.Ala11Gly)
|
rs377264022
|
|
|
NM_001278116.2(L1CAM):c.1118T>C (p.Val373Ala)
|
rs2521013918
|
|
|
NM_001278116.2(L1CAM):c.122C>G (p.Ser41Cys)
|
rs2521039021
|
|
|
NM_001278116.2(L1CAM):c.1310T>C (p.Met437Thr)
|
rs2064741363
|
|
|
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
|
rs1475828038
|
|
|
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
|
rs202067345
|
|
|
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)
|
rs2520972067
|
|
|
NM_001278116.2(L1CAM):c.2854G>A (p.Val952Met)
|
rs2064700596
|
|
|
NM_001278116.2(L1CAM):c.3550G>A (p.Glu1184Lys)
|
rs1557089371
|
|
|
NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=)
|
rs776921804
|
|
|
NM_001278669.2(NFATC1):c.437C>T (p.Pro146Leu)
|
rs2517414153
|
|
|
NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter)
|
rs2107224808
|
|
|
NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)
|
rs1290747137
|
|
|
NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)
|
rs2534898919
|
|
|
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu)
|
rs779731686
|
|
|
NM_001281503.2(SLITRK1):c.1108T>G (p.Leu370Val)
|
rs758806174
|
|
|
NM_001281503.2(SLITRK1):c.1661G>A (p.Ser554Asn)
|
rs2501003146
|
|
|
NM_001281740.3(FHOD3):c.1910G>C (p.Arg637Pro)
|
rs151313792
|
|
|
NM_001282225.2(ADA2):c.342T>G (p.His114Gln)
|
rs2062364841
|
|
|
NM_001282531.3(ADNP):c.2197GAT[2] (p.Asp735del)
|
rs777999072
|
|
|
NM_001282531.3(ADNP):c.2773G>A (p.Glu925Lys)
|
rs2515575853
|
|
|
NM_001282531.3(ADNP):c.2968_2969inv (p.Glu990Ser)
|
|
|
|
NM_001282531.3(ADNP):c.3266A>G (p.His1089Arg)
|
rs2515571604
|
|
|
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)
|
rs764614303
|
|
|
NM_001282531.3(ADNP):c.790del (p.Arg264fs)
|
rs2515589575
|
|
|
NM_001282874.2(SMARCA1):c.279G>C (p.Lys93Asn)
|
rs775120225
|
|
|
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
|
rs765888621
|
|
|
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr)
|
rs1263651818
|
|
|
NM_001286.5(CLCN6):c.1059T>A (p.Cys353Ter)
|
rs2523129241
|
|
|
NM_001286.5(CLCN6):c.677A>G (p.Gln226Arg)
|
rs770682558
|
|
|
NM_001286577.2(C2CD3):c.5784C>A (p.Asp1928Glu)
|
rs2496215862
|
|
|
NM_001287.6(CLCN7):c.1588A>C (p.Ile530Leu)
|
rs781172012
|
|
|
NM_001287.6(CLCN7):c.485A>G (p.Asn162Ser)
|
rs2505844247
|
|
|
NM_001287491.2(TET3):c.5062C>T (p.Arg1688Cys)
|
rs2104233612
|
|
|
NM_001289808.2(CRYAB):c.35G>T (p.Arg12Leu)
|
rs930811941
|
|
|
NM_001289808.2(CRYAB):c.476T>A (p.Ile159Asn)
|
rs782115863
|
|
|
NM_001289808.2(CRYAB):c.509C>A (p.Thr170Asn)
|
rs2497874655
|
|
|
NM_001290223.2(DOCK1):c.3262A>T (p.Arg1088Ter)
|
rs987430227
|
|
|
NM_001291303.3(FAT4):c.2011T>C (p.Ser671Pro)
|
rs2530432225
|
|
|
NM_001291303.3(FAT4):c.2216A>T (p.Asn739Ile)
|
rs200512777
|
|
|
NM_001291303.3(FAT4):c.2338A>T (p.Thr780Ser)
|
rs1304087704
|
|
|
NM_001291303.3(FAT4):c.4040A>G (p.Asn1347Ser)
|
rs2530447941
|
|
|
NM_001291415.2(KDM6A):c.2090A>G (p.Lys697Arg)
|
rs2148034200
|
|
|
NM_001291415.2(KDM6A):c.2543C>T (p.Thr848Ile)
|
rs1218269593
|
|
|
NM_001291415.2(KDM6A):c.43G>A (p.Ala15Thr)
|
rs2031064287
|
|
|
NM_001291415.2(KDM6A):c.613G>T (p.Ala205Ser)
|
rs2147777442
|
|
|
NM_001291867.2(NHS):c.548C>G (p.Pro183Arg)
|
rs2064347078
|
|
|
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
|
rs1257243835
|
|
|
NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)
|
rs2468060247
|
|
|
NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)
|
rs202197432
|
|
|
NM_001302769.2(PARD3B):c.608C>A (p.Thr203Lys)
|
rs769820507
|
|
|
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)
|
rs775741794
|
|
|
NM_001303052.2(MYT1L):c.1276A>G (p.Met426Val)
|
rs910352993
|
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
|
NM_001303052.2(MYT1L):c.2293A>G (p.Met765Val)
|
rs2048560485
|
|
|
NM_001303052.2(MYT1L):c.2530T>C (p.Leu844=)
|
rs746422389
|
|
|
NM_001303052.2(MYT1L):c.3014T>C (p.Met1005Thr)
|
rs1210579303
|
|
|
NM_001303052.2(MYT1L):c.3196A>C (p.Lys1066Gln)
|
rs2550008217
|
|
|
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)
|
rs753651729
|
|
|
NM_001303256.3(MORC2):c.13A>C (p.Asn5His)
|
rs2517666197
|
|
|
NM_001303256.3(MORC2):c.1669C>T (p.Gln557Ter)
|
rs2517584506
|
|
|
NM_001303256.3(MORC2):c.2331A>T (p.Ser777=)
|
rs2040607269
|
|
|
NM_001308093.3(GATA4):c.1001-26G>A
|
rs1554498708
|
|
|
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val)
|
rs1015136328
|
|
|
NM_001308093.3(GATA4):c.422C>T (p.Ala141Val)
|
rs1364199604
|
|
|
NM_001312909.2(FAM111A):c.1515dup (p.Ala506fs)
|
rs762116864
|
|
|
NM_001312909.2(FAM111A):c.886A>G (p.Ile296Val)
|
rs2496297026
|
|
|
NM_001318510.2(ACSL4):c.1028A>C (p.Asn343Thr)
|
rs2521079597
|
|
|
NM_001318510.2(ACSL4):c.805G>T (p.Gly269Ter)
|
rs2521180156
|
|
|
NM_001318852.2(MAPK8IP3):c.1207G>A (p.Asp403Asn)
|
rs2548063433
|
|
|
NM_001318852.2(MAPK8IP3):c.1762C>T (p.Pro588Ser)
|
rs573495601
|
|
|
NM_001318852.2(MAPK8IP3):c.2744T>C (p.Leu915Ser)
|
rs761741039
|
|
|
NM_001318852.2(MAPK8IP3):c.3493G>A (p.Gly1165Arg)
|
rs2548117093
|
|
|
NM_001318852.2(MAPK8IP3):c.3712G>A (p.Asp1238Asn)
|
rs2548119279
|
|
|
NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter)
|
rs397517960
|
|
|
NM_001319074.4(RAX2):c.51_52delinsA (p.Pro18fs)
|
rs2512318714
|
|
|
NM_001321075.3(DLG4):c.1234A>C (p.Met412Leu)
|
rs2507940946
|
|
|
NM_001321075.3(DLG4):c.843C>A (p.Asp281Glu)
|
rs2507947212
|
|
|
NM_001321075.3(DLG4):c.990C>T (p.Gly330=)
|
rs769940216
|
|
|
NM_001321739.2(M1AP):c.595+3A>G
|
rs2530458075
|
|
|
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
|
rs1354355995
|
|
|
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
|
rs202017344
|
|
|
NM_001322934.2(NFKB2):c.1762G>C (p.Ala588Pro)
|
rs2135437916
|
|
|
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
|
rs767825838
|
|
|
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
|
rs200333632
|
|
|
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
|
rs2518890531
|
|
|
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
|
rs1395051245
|
|
|
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
|
rs2518849319
|
|
|
NM_001324144.2(ZNF41):c.1596del (p.Phe532fs)
|
rs2519142554
|
|
|
NM_001324144.2(ZNF41):c.87dup (p.Glu30Ter)
|
rs2519268575
|
|
|
NM_001329943.3(KIAA0586):c.411-1409C>T
|
rs2140521828
|
|
|
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
|
rs751356878
|
|
|
NM_001330078.2(NRXN1):c.1850G>A (p.Gly617Glu)
|
rs780931684
|
|
|
NM_001330078.2(NRXN1):c.1993A>G (p.Thr665Ala)
|
rs752412228
|
|
|
NM_001330078.2(NRXN1):c.2346A>G (p.Leu782=)
|
rs764741914
|
|
|
NM_001330078.2(NRXN1):c.772+1068C>G
|
rs758515332
|
|
|
NM_001330195.2(NRXN3):c.2109T>G (p.His703Gln)
|
rs1404322554
|
|
|
NM_001330195.2(NRXN3):c.3158G>T (p.Cys1053Phe)
|
rs1387777651
|
|
|
NM_001330260.2(SCN8A):c.1437A>T (p.Glu479Asp)
|
rs2540186030
|
|
|
NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)
|
rs1942062051
|
|
|
NM_001330260.2(SCN8A):c.1816C>T (p.Arg606Trp)
|
rs2540204156
|
|
|
NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)
|
rs763701191
|
|
|
NM_001330260.2(SCN8A):c.1893C>T (p.Pro631=)
|
rs1185791080
|
|
|
NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala)
|
rs1429377869
|
|
|
NM_001330260.2(SCN8A):c.2901+35C>A
|
rs2138863197
|
|
|
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)
|
rs2138868637
|
|
|
NM_001330260.2(SCN8A):c.3151G>C (p.Ala1051Pro)
|
rs2540266554
|
|
|
NM_001330260.2(SCN8A):c.3244G>T (p.Asp1082Tyr)
|
rs2540267025
|
|
|
NM_001330260.2(SCN8A):c.3377T>G (p.Leu1126Arg)
|
rs977168749
|
|
|
NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr)
|
rs1592164705
|
|
|
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)
|
rs1555230905
|
|
|
NM_001330260.2(SCN8A):c.615-247dup
|
rs2540158532
|
|
|
NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)
|
rs2540119199
|
|
|
NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)
|
rs748615941
|
|
|
NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)
|
rs1440736195
|
|
|
NM_001330288.2(SMARCC2):c.1382+1G>A
|
rs2540917266
|
|
|
NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)
|
rs2540900738
|
|
|
NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)
|
rs1468769228
|
|
|
NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)
|
rs759635452
|
|
|
NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)
|
rs1294054458
|
|
|
NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)
|
rs540878516
|
|
|
NM_001330311.2(DVL1):c.118C>G (p.Arg40Gly)
|
rs2523250640
|
|
|
NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe)
|
rs374440563
|
|
|
NM_001330311.2(DVL1):c.860G>A (p.Gly287Glu)
|
rs2523175108
|
|
|
NM_001330574.2(ZNF711):c.-458_-438del
|
rs944048283
|
|
|
NM_001330574.2(ZNF711):c.1761G>T (p.Arg587Ser)
|
rs2520407889
|
|
|
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)
|
rs1426575922
|
|
|
NM_001330574.2(ZNF711):c.900AGA[2] (p.Glu302del)
|
rs775531293
|
|
|
NM_001330588.2(TPP2):c.2137C>A (p.Pro713Thr)
|
rs2504012862
|
|
|
NM_001330701.2(AGTPBP1):c.2738T>A (p.Val913Asp)
|
rs2537710909
|
|
|
NM_001332.4(CTNND2):c.557C>T (p.Ser186Leu)
|
rs2547202102
|
|
|
NM_001332.4(CTNND2):c.651G>C (p.Glu217Asp)
|
rs1758955906
|
|
|
NM_001346022.3(USP45):c.377+5G>A
|
rs2537992781
|
|
|
NM_001346754.2(PIGW):c.439G>A (p.Val147Met)
|
rs2510227023
|
|
|
NM_001347721.2(DYRK1A):c.1071+1_1071+2dup
|
rs2518038121
|
|
|
NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)
|
rs2518074007
|
|
|
NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)
|
rs2518074144
|
|
|
NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile)
|
rs2518074755
|
|
|
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala)
|
rs2053762752
|
|
|
NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)
|
rs2517958068
|
|
|
NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)
|
rs2518097366
|
|
|
NM_001348323.3(TRIP12):c.2396A>G (p.Lys799Arg)
|
rs1444131578
|
|
|
NM_001348323.3(TRIP12):c.3399C>G (p.Asn1133Lys)
|
rs2471614177
|
|
|
NM_001348323.3(TRIP12):c.4277A>G (p.His1426Arg)
|
rs1367634297
|
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
rs747501109
|
|
|
NM_001348716.2(KDM6B):c.1244C>T (p.Pro415Leu)
|
rs761595634
|
|
|
NM_001348716.2(KDM6B):c.1282C>T (p.Pro428Ser)
|
rs769456998
|
|
|
NM_001348716.2(KDM6B):c.1552C>T (p.Pro518Ser)
|
rs2544525298
|
|
|
NM_001348716.2(KDM6B):c.1718C>T (p.Pro573Leu)
|
rs553101718
|
|
|
NM_001348716.2(KDM6B):c.2020C>T (p.Pro674Ser)
|
rs2078608458
|
|
|
NM_001348716.2(KDM6B):c.2166A>C (p.Gln722His)
|
rs1257992422
|
|
|
NM_001348716.2(KDM6B):c.2477C>G (p.Ser826Cys)
|
rs142934776
|
|
|
NM_001348716.2(KDM6B):c.2524C>G (p.Pro842Ala)
|
rs1000777879
|
|
|
NM_001348716.2(KDM6B):c.2628G>T (p.Gly876=)
|
rs2544527723
|
|
|
NM_001348716.2(KDM6B):c.2789G>C (p.Arg930Pro)
|
rs144748295
|
|
|
NM_001348716.2(KDM6B):c.3014CCAAGG[3] (p.Lys1008_Val1009insAlaLys)
|
rs777374865
|
|
|
NM_001348716.2(KDM6B):c.3157_3174dup (p.Pro1058_Ser1059insProSerAlaProAlaPro)
|
rs1567799018
|
|
|
NM_001348716.2(KDM6B):c.3940C>T (p.Pro1314Ser)
|
rs140925165
|
|
|
NM_001348716.2(KDM6B):c.3949G>A (p.Ala1317Thr)
|
rs2151379293
|
|
|
NM_001348716.2(KDM6B):c.4663dup (p.Val1555fs)
|
rs2544536247
|
|
|
NM_001348716.2(KDM6B):c.4925C>A (p.Ser1642Ter)
|
rs2078747401
|
|
|
NM_001348716.2(KDM6B):c.866C>T (p.Ala289Val)
|
rs774070257
|
|
|
NM_001348768.2(HECW2):c.1655G>A (p.Gly552Asp)
|
rs2469044765
|
|
|
NM_001348768.2(HECW2):c.201G>C (p.Glu67Asp)
|
rs200785474
|
|
|
NM_001348768.2(HECW2):c.3288A>T (p.Glu1096Asp)
|
rs1689725360
|
|
|
NM_001348768.2(HECW2):c.3556C>T (p.Pro1186Ser)
|
rs2468689955
|
|
|
NM_001348768.2(HECW2):c.643C>T (p.Pro215Ser)
|
rs1692097132
|
|
|
NM_001348768.2(HECW2):c.860G>C (p.Arg287Thr)
|
rs2469062405
|
|
|
NM_001349206.2(LPIN1):c.2486C>G (p.Pro829Arg)
|
rs2546265179
|
|
|
NM_001349253.2(SCN11A):c.2237T>G (p.Leu746Ter)
|
rs2065612152
|
|
|
NM_001349253.2(SCN11A):c.4433G>C (p.Arg1478Pro)
|
rs758597298
|
|
|
NM_001349338.3(FOXP1):c.1286T>G (p.Met429Arg)
|
rs968948011
|
|
|
NM_001349338.3(FOXP1):c.139G>C (p.Gly47Arg)
|
rs2546769455
|
|
|
NM_001349338.3(FOXP1):c.1556T>C (p.Leu519Pro)
|
rs2107200636
|
|
|
NM_001349338.3(FOXP1):c.165GCA[3] (p.Gln60del)
|
rs370638902
|
|
|
NM_001349338.3(FOXP1):c.59C>T (p.Ser20Leu)
|
rs1348187295
|
|
|
NM_001349338.3(FOXP1):c.952G>A (p.Glu318Lys)
|
rs866245092
|
|
|
NM_001351132.2(PEX5):c.1184G>T (p.Cys395Phe)
|
rs1393674968
|
|
|
NM_001351132.2(PEX5):c.418T>C (p.Trp140Arg)
|
rs1333556176
|
|
|
NM_001351132.2(PEX5):c.552-10C>T
|
rs2540124973
|
|
|
NM_001351661.2(MACROD2):c.1345T>A (p.Ter449Arg)
|
rs146842863
|
|
|
NM_001352027.3(PHF21A):c.1727A>G (p.Asp576Gly)
|
rs2088791640
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
|
rs1250866536
|
|
|
NM_001353345.2(SETD1B):c.1424A>T (p.Glu475Val)
|
rs1265176464
|
|
|
NM_001353345.2(SETD1B):c.17C>G (p.Pro6Arg)
|
rs553235589
|
|
|
NM_001353345.2(SETD1B):c.273+2T>C
|
rs2500165331
|
|
|
NM_001353345.2(SETD1B):c.2776G>C (p.Asp926His)
|
rs2500211392
|
|
|
NM_001353345.2(SETD1B):c.3017C>A (p.Pro1006His)
|
rs1205739090
|
|
|
NM_001353345.2(SETD1B):c.3671C>T (p.Ala1224Val)
|
rs2500221562
|
|
|
NM_001353345.2(SETD1B):c.4673C>A (p.Thr1558Asn)
|
rs1172937520
|
|
|
NM_001353345.2(SETD1B):c.931C>T (p.Arg311Trp)
|
rs200717752
|
|
|
NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)
|
rs2082794241
|
|
|
NM_001353812.2(ATP11C):c.1265T>C (p.Ile422Thr)
|
rs2522786469
|
|
|
NM_001353812.2(ATP11C):c.2353G>T (p.Val785Leu)
|
rs2522600927
|
|
|
NM_001353812.2(ATP11C):c.2543C>T (p.Ser848Phe)
|
rs2522550126
|
|
|
NM_001353812.2(ATP11C):c.2992A>G (p.Ile998Val)
|
rs2522394073
|
|
|
NM_001353812.2(ATP11C):c.3175C>G (p.Gln1059Glu)
|
rs2522330859
|
|
|
NM_001353812.2(ATP11C):c.354_357del (p.Asn118fs)
|
rs2083255037
|
|
|
NM_001353812.2(ATP11C):c.995G>A (p.Arg332Gln)
|
rs139162586
|
|
|
NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro)
|
rs2519751812
|
|
|
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val)
|
rs781938857
|
|
|
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.1058C>T (p.Pro353Leu)
|
rs748666173
|
|
|
NM_001355436.2(SPTB):c.1333G>A (p.Val445Met)
|
rs1594786052
|
|
|
NM_001355436.2(SPTB):c.1342-10G>A
|
rs1037576854
|
|
|
NM_001355436.2(SPTB):c.1412C>T (p.Thr471Met)
|
rs746390869
|
|
|
NM_001355436.2(SPTB):c.1465G>A (p.Glu489Lys)
|
rs762902447
|
|
|
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln)
|
rs1452760098
|
|
|
NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu)
|
rs1452760098
|
|
|
NM_001355436.2(SPTB):c.167A>G (p.Gln56Arg)
|
rs2503227575
|
|
|
NM_001355436.2(SPTB):c.2407_2408delinsTG (p.Glu803Trp)
|
rs2503157943
|
|
|
NM_001355436.2(SPTB):c.2638_2640dup (p.Leu880_Glu881insLeu)
|
rs754194156
|
|
|
NM_001355436.2(SPTB):c.282G>A (p.Val94=)
|
rs2503226480
|
|
|
NM_001355436.2(SPTB):c.300+3A>G
|
rs2503226353
|
|
|
NM_001355436.2(SPTB):c.301-22G>A
|
rs2139637785
|
|
|
NM_001355436.2(SPTB):c.3017C>T (p.Ala1006Val)
|
rs2082581647
|
|
|
NM_001355436.2(SPTB):c.3338A>G (p.His1113Arg)
|
rs781503502
|
|
|
NM_001355436.2(SPTB):c.3763A>G (p.Arg1255Gly)
|
rs2503121304
|
|
|
NM_001355436.2(SPTB):c.3764G>T (p.Arg1255Met)
|
rs2503121292
|
|
|
NM_001355436.2(SPTB):c.413T>G (p.Ile138Ser)
|
rs2082930394
|
|
|
NM_001355436.2(SPTB):c.4266+5G>T
|
rs1208350542
|
|
|
NM_001355436.2(SPTB):c.4278C>A (p.Asp1426Glu)
|
rs780282298
|
|
|
NM_001355436.2(SPTB):c.4362G>C (p.Leu1454Phe)
|
rs1287843603
|
|
|
NM_001355436.2(SPTB):c.4564-3C>A
|
rs2503072075
|
|
|
NM_001355436.2(SPTB):c.4892G>T (p.Arg1631Leu)
|
rs201082918
|
|
|
NM_001355436.2(SPTB):c.4973+5G>C
|
rs1555367789
|
|
|
NM_001355436.2(SPTB):c.5101G>A (p.Asp1701Asn)
|
rs369208136
|
|
|
NM_001355436.2(SPTB):c.518G>A (p.Arg173His)
|
rs146355737
|
|
|
NM_001355436.2(SPTB):c.5227G>A (p.Gly1743Arg)
|
rs2503057793
|
|
|
NM_001355436.2(SPTB):c.544T>G (p.Trp182Gly)
|
rs2503213587
|
|
|
NM_001355436.2(SPTB):c.546G>T (p.Trp182Cys)
|
rs2503213554
|
|
|
NM_001355436.2(SPTB):c.559A>C (p.Thr187Pro)
|
rs2503213456
|
|
|
NM_001355436.2(SPTB):c.5684G>A (p.Arg1895His)
|
rs1357134262
|
|
|
NM_001355436.2(SPTB):c.5720G>A (p.Arg1907His)
|
rs368348495
|
|
|
NM_001355436.2(SPTB):c.6010C>G (p.Arg2004Gly)
|
rs144839610
|
|
|
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)
|
rs2139479145
|
|
|
NM_001355436.2(SPTB):c.6269+6T>A
|
rs2503030040
|
|
|
NM_001355436.2(SPTB):c.6269+6T>C
|
rs2503030040
|
|
|
NM_001355436.2(SPTB):c.636A>G (p.Ile212Met)
|
rs2503210541
|
|
|
NM_001355436.2(SPTB):c.6473C>A (p.Thr2158Lys)
|
rs187548635
|
|
|
NM_001355436.2(SPTB):c.656T>C (p.Leu219Pro)
|
rs1566772276
|
|
|
NM_001355436.2(SPTB):c.6627G>C (p.Val2209=)
|
rs2502960204
|
|
|
NM_001355436.2(SPTB):c.764-3C>G
|
rs2503204292
|
|
|
NM_001355436.2(SPTB):c.944_958del (p.Leu315_Glu319del)
|
rs2503198519
|
|
|
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu)
|
rs754387991
|
|
|
NM_001358921.2(COQ2):c.254-2A>T
|
rs2529770560
|
|
|
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
|
rs566845170
|
|
|
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)
|
rs2148328385
|
|
|
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
|
rs1353587380
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
|
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
|
rs1557233196
|
|
|
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
|
rs958377740
|
|
|
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
|
rs2523264050
|
|
|
NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met)
|
rs2489047024
|
|
|
NM_001363540.2(DOCK4):c.550-1G>T
|
rs2538117679
|
|
|
NM_001363711.2(DUOX2):c.1435C>G (p.Leu479Val)
|
rs1595526504
|
|
|
NM_001363711.2(DUOX2):c.2579C>A (p.Ser860Tyr)
|
rs1183170887
|
|
|
NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=)
|
rs753444593
|
|
|
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
|
rs143471358
|
|
|
NM_001363711.2(DUOX2):c.4060G>A (p.Gly1354Ser)
|
rs1893886146
|
|
|
NM_001363711.2(DUOX2):c.4597G>C (p.Val1533Leu)
|
rs748789760
|
|
|
NM_001364564.1(SALL2):c.2286GGA[1] (p.Glu766_Glu767del)
|
rs2502230487
|
|
|
NM_001364905.1(LRBA):c.1879G>A (p.Ala627Thr)
|
rs550423754
|
|
|
NM_001364905.1(LRBA):c.4369G>C (p.Glu1457Gln)
|
rs1296529657
|
|
|
NM_001364905.1(LRBA):c.4832C>T (p.Thr1611Ile)
|
rs1349045597
|
|
|
NM_001364905.1(LRBA):c.499C>T (p.Arg167Cys)
|
rs371936024
|
|
|
NM_001364905.1(LRBA):c.5453T>C (p.Phe1818Ser)
|
rs1439182374
|
|
|
NM_001365088.1(SLC12A6):c.1101T>G (p.Phe367Leu)
|
rs2509816307
|
|
|
NM_001365088.1(SLC12A6):c.419T>G (p.Met140Arg)
|
rs1892933494
|
|
|
NM_001365276.2(TNXB):c.11422C>G (p.Arg3808Gly)
|
rs149197999
|
|
|
NM_001365276.2(TNXB):c.1762A>T (p.Arg588Trp)
|
rs1373074796
|
|
|
NM_001365276.2(TNXB):c.4802A>C (p.Glu1601Ala)
|
rs1778815272
|
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
|
NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu)
|
rs142205105
|
|
|
NM_001365480.1(CCDC88A):c.1340A>G (p.Gln447Arg)
|
rs1574177061
|
|
|
NM_001365480.1(CCDC88A):c.432A>C (p.Arg144Ser)
|
rs2544949679
|
|
|
NM_001365536.1(SCN9A):c.3608T>C (p.Leu1203Pro)
|
rs2467868131
|
|
|
NM_001365536.1(SCN9A):c.4222T>C (p.Trp1408Arg)
|
rs2468972401
|
|
|
NM_001365536.1(SCN9A):c.4630A>C (p.Thr1544Pro)
|
rs1228583442
|
|
|
NM_001365536.1(SCN9A):c.5873_5874del (p.Ser1957_Tyr1958insTer)
|
rs778976900
|
|
|
NM_001365536.1(SCN9A):c.935C>T (p.Ala312Val)
|
rs2468074138
|
|
|
NM_001365588.1(NLGN4Y):c.1672C>T (p.Gln558Ter)
|
rs2522047010
|
|
|
NM_001365792.1(DAB1):c.718G>C (p.Val240Leu)
|
rs141893131
|
|
|
NM_001365925.2(NLGN1):c.19A>G (p.Thr7Ala)
|
rs2473589767
|
|
|
NM_001365925.2(NLGN1):c.2207G>T (p.Arg736Leu)
|
rs118079207
|
|
|
NM_001365951.3(KIF1B):c.2042G>A (p.Arg681Lys)
|
rs751423624
|
|
|
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)
|
rs1652465916
|
|
|
NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser)
|
rs1423618847
|
|
|
NM_001365999.1(SZT2):c.10254_10260del (p.Val3419fs)
|
rs2545878143
|
|
|
NM_001365999.1(SZT2):c.2473G>T (p.Val825Phe)
|
rs759265805
|
|
|
NM_001365999.1(SZT2):c.5419A>G (p.Arg1807Gly)
|
rs2545831101
|
|
|
NM_001365999.1(SZT2):c.5902C>G (p.Gln1968Glu)
|
rs2545835363
|
|
|
NM_001365999.1(SZT2):c.7516C>T (p.Arg2506Trp)
|
rs200935344
|
|
|
NM_001365999.1(SZT2):c.7861C>T (p.Pro2621Ser)
|
rs1655124059
|
|
|
NM_001365999.1(SZT2):c.9722C>A (p.Ala3241Glu)
|
rs201246816
|
|
|
NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=)
|
rs867941005
|
|
|
NM_001366285.2(TBXT):c.118C>G (p.Arg40Gly)
|
rs763835047
|
|
|
NM_001366722.1(GRIP1):c.815G>T (p.Cys272Phe)
|
rs2500997614
|
|
|
NM_001367479.1(DNAH14):c.3248G>A (p.Trp1083Ter)
|
rs2528493256
|
|
|
NM_001367479.1(DNAH14):c.862dup (p.Asp288fs)
|
rs2529626212
|
|
|
NM_001367498.1(CNTNAP5):c.1039C>T (p.Arg347Ter)
|
rs748391901
|
|
|
NM_001367498.1(CNTNAP5):c.1598C>A (p.Ser533Tyr)
|
rs1474915453
|
|
|
NM_001367498.1(CNTNAP5):c.2103dup (p.Gly702fs)
|
rs1680622371
|
|
|
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)
|
rs747830413
|
|
|
NM_001367561.1(DOCK7):c.3676G>A (p.Asp1226Asn)
|
rs1645108056
|
|
|
NM_001367561.1(DOCK7):c.5302T>C (p.Tyr1768His)
|
rs1357890326
|
|
|
NM_001367561.1(DOCK7):c.5770G>A (p.Glu1924Lys)
|
rs2523740256
|
|
|
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
|
rs1006838853
|
|
|
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)
|
rs1429918039
|
|
|
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)
|
rs529322092
|
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
|
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
|
rs1167495569
|
|
|
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
|
rs529103356
|
|
|
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)
|
rs1285839120
|
|
|
NM_001367721.1(CASK):c.1737+7A>T
|
rs764187461
|
|
|
NM_001367721.1(CASK):c.2295C>A (p.Asp765Glu)
|
rs1229738433
|
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
|
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile)
|
rs376569877
|
|
|
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
|
rs376569877
|
|
|
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
|
rs951381795
|
|
|
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
|
rs2057602108
|
|
|
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
|
rs148981797
|
|
|
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
|
rs2057707494
|
|
|
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
|
rs2505152237
|
|
|
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
|
rs1349035165
|
|
|
NM_001367873.1(SOX6):c.67G>T (p.Asp23Tyr)
|
rs748308456
|
|
|
NM_001367916.1(MAGT1):c.857T>C (p.Leu286Ser)
|
rs2521970767
|
|
|
NM_001367916.1(MAGT1):c.87C>G (p.Ala29=)
|
rs2522050974
|
|
|
NM_001367949.2(FAT3):c.5038G>A (p.Val1680Ile)
|
rs2496956109
|
|
|
NM_001368067.1(LDB3):c.527C>T (p.Ala176Val)
|
rs2492641392
|
|
|
NM_001368397.1(FRMPD4):c.2233A>G (p.Thr745Ala)
|
rs781244148
|
|
|
NM_001368397.1(FRMPD4):c.2257G>A (p.Glu753Lys)
|
rs775114807
|
|
|
NM_001368397.1(FRMPD4):c.2932G>A (p.Asp978Asn)
|
rs2519858719
|
|
|
NM_001368397.1(FRMPD4):c.3505G>A (p.Ala1169Thr)
|
rs771597592
|
|
|
NM_001368397.1(FRMPD4):c.3779C>G (p.Pro1260Arg)
|
rs2519869795
|
|
|
NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)
|
rs202115626
|
|
|
NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)
|
rs762280884
|
|
|
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)
|
rs2135152943
|
|
|
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala)
|
rs541894561
|
|
|
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del)
|
rs773869600
|
|
|
NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu)
|
rs1326900384
|
|
|
NM_001369.3(DNAH5):c.11028+5G>A
|
rs1419129615
|
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
|
NM_001369.3(DNAH5):c.2780C>T (p.Ser927Leu)
|
rs2547038533
|
|
|
NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser)
|
rs200249508
|
|
|
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)
|
rs770166503
|
|
|
NM_001369268.1(ACAN):c.1319C>T (p.Thr440Ile)
|
rs2505263174
|
|
|
NM_001369268.1(ACAN):c.2182G>A (p.Ala728Thr)
|
rs2505295673
|
|
|
NM_001369268.1(ACAN):c.2836_2892del (p.Gly946_Glu964del)
|
rs1567184588
|
|
|
NM_001369268.1(ACAN):c.389T>A (p.Val130Asp)
|
rs2505223450
|
|
|
NM_001370100.5(ZMYND11):c.1000C>T (p.Arg334Trp)
|
rs369984743
|
|
|
NM_001370100.5(ZMYND11):c.142C>T (p.His48Tyr)
|
rs2539336280
|
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
|
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala)
|
rs1060499985
|
|
|
NM_001370259.2(MEN1):c.719T>C (p.Val240Ala)
|
rs2497205552
|
|
|
NM_001370466.1(NOD2):c.695T>G (p.Val232Gly)
|
rs2506394660
|
|
|
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
|
rs2471517914
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
|
NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)
|
rs2547136151
|
|
|
NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)
|
rs2546240502
|
|
|
NM_001371596.2(MFSD8):c.290G>T (p.Trp97Leu)
|
rs2546166905
|
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
|
NM_001371596.2(MFSD8):c.547G>T (p.Gly183Cys)
|
rs2546153020
|
|
|
NM_001371623.1(TCOF1):c.2717C>T (p.Ser906Phe)
|
rs751941031
|
|
|
NM_001371727.1(GABRB2):c.1279C>G (p.Pro427Ala)
|
rs765952235
|
|
|
NM_001371727.1(GABRB2):c.1292T>C (p.Met431Thr)
|
rs2546532763
|
|
|
NM_001371727.1(GABRB2):c.250A>T (p.Thr84Ser)
|
rs2480000282
|
|
|
NM_001371727.1(GABRB2):c.255G>A (p.Met85Ile)
|
rs2480000267
|
|
|
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile)
|
rs1753824440
|
|
|
NM_001371928.1(AHDC1):c.1034G>T (p.Gly345Val)
|
rs2522048567
|
|
|
NM_001371928.1(AHDC1):c.1139C>T (p.Pro380Leu)
|
rs1300711227
|
|
|
NM_001371928.1(AHDC1):c.2132G>A (p.Gly711Glu)
|
rs908409288
|
|
|
NM_001371928.1(AHDC1):c.2951C>G (p.Thr984Ser)
|
rs2521903885
|
|
|
NM_001371928.1(AHDC1):c.3505G>A (p.Asp1169Asn)
|
rs527461367
|
|
|
NM_001371928.1(AHDC1):c.4134G>T (p.Lys1378Asn)
|
rs893943868
|
|
|
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
|
rs377174668
|
|
|
NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)
|
rs2019237372
|
|
|
NM_001371986.1(UNC80):c.416C>T (p.Ser139Phe)
|
rs1237674284
|
|
|
NM_001371986.1(UNC80):c.4229_4240del (p.Ser1410_His1413del)
|
rs2471078375
|
|
|
NM_001371986.1(UNC80):c.6680A>G (p.Gln2227Arg)
|
rs2471170255
|
|
|
NM_001371986.1(UNC80):c.764G>A (p.Cys255Tyr)
|
rs2470915744
|
|
|
NM_001371986.1(UNC80):c.7843C>G (p.Pro2615Ala)
|
rs761114022
|
|
|
NM_001372.4(DNAH9):c.10139T>C (p.Ile3380Thr)
|
rs2544799526
|
|
|
NM_001372.4(DNAH9):c.13415del (p.Pro4472fs)
|
rs2544962496
|
|
|
NM_001372.4(DNAH9):c.3386G>T (p.Ser1129Ile)
|
rs200266837
|
|
|
NM_001372.4(DNAH9):c.5383G>A (p.Ala1795Thr)
|
rs201657301
|
|
|
NM_001372.4(DNAH9):c.9203G>T (p.Arg3068Leu)
|
rs201731662
|
|
|
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
|
rs1200944836
|
|
|
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
|
rs2518406623
|
|
|
NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
|
rs2518429161
|
|
|
NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
|
rs2518373750
|
|
|
NM_001372066.1(TFAP2A):c.220C>A (p.Pro74Thr)
|
rs753822419
|
|
|
NM_001372066.1(TFAP2A):c.754G>T (p.Gly252Cys)
|
rs976420342
|
|
|
NM_001372078.1(REV3L):c.97A>T (p.Lys33Ter)
|
rs774548198
|
|
|
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
|
rs796565403
|
|
|
NM_001374259.2(IL12RB2):c.1038+1G>A
|
rs1456230778
|
|
|
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)
|
rs764718032
|
|
|
NM_001374353.1(GLI2):c.3950A>G (p.Gln1317Arg)
|
rs2467782501
|
|
|
NM_001374353.1(GLI2):c.4300A>T (p.Ile1434Phe)
|
rs761024643
|
|
|
NM_001374353.1(GLI2):c.71G>A (p.Gly24Asp)
|
rs2467020579
|
|
|
NM_001374385.1(ATP8B1):c.2053G>A (p.Glu685Lys)
|
rs558637349
|
|
|
NM_001374385.1(ATP8B1):c.2558T>G (p.Phe853Cys)
|
rs773092889
|
|
|
NM_001374385.1(ATP8B1):c.3262-3C>T
|
rs2511617300
|
|
|
NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg)
|
rs1453256339
|
|
|
NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val)
|
rs1321986430
|
|
|
NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys)
|
rs1315757941
|
|
|
NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn)
|
rs1778961039
|
|
|
NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn)
|
rs770362902
|
|
|
NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu)
|
rs1778998112
|
|
|
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro)
|
rs2546843411
|
|
|
NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla)
|
rs1779002290
|
|
|
NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del)
|
rs1392865152
|
|
|
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)
|
rs771600870
|
|
|
NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)
|
rs1370276287
|
|
|
NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr)
|
rs1239914614
|
|
|
NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly)
|
rs2128290736
|
|
|
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)
|
rs1049209609
|
|
|
NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val)
|
rs1794058864
|
|
|
NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His)
|
rs771781497
|
|
|
NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln)
|
rs587779743
|
|
|
NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)
|
rs587779743
|
|
|
NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro)
|
rs1263775695
|
|
|
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)
|
rs183921218
|
|
|
NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser)
|
rs183921218
|
|
|
NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly)
|
rs1794492217
|
|
|
NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu)
|
rs2128395778
|
|
|
NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)
|
rs1171803835
|
|
|
NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)
|
rs1171803835
|
|
|
NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu)
|
rs1439723202
|
|
|
NM_001375380.1(EBF3):c.301A>G (p.Asn101Asp)
|
rs2493675120
|
|
|
NM_001375380.1(EBF3):c.356-4G>C
|
rs1564930246
|
|
|
NM_001375380.1(EBF3):c.612C>A (p.Asn204Lys)
|
rs2494085350
|
|
|
NM_001375380.1(EBF3):c.66C>G (p.Ser22Arg)
|
rs1324801854
|
|
|
NM_001375380.1(EBF3):c.828G>A (p.Thr276=)
|
rs2493991710
|
|
|
NM_001375405.1(CEP120):c.1549A>T (p.Met517Leu)
|
rs374881013
|
|
|
NM_001375524.1(TRRAP):c.1026G>C (p.Glu342Asp)
|
rs1554407044
|
|
|
NM_001375524.1(TRRAP):c.10993C>T (p.Leu3665Phe)
|
rs2116883943
|
|
|
NM_001375524.1(TRRAP):c.11402A>G (p.Glu3801Gly)
|
rs2485085459
|
|
|
NM_001375524.1(TRRAP):c.1553C>A (p.Pro518His)
|
rs1465080095
|
|
|
NM_001375524.1(TRRAP):c.1619C>G (p.Thr540Arg)
|
rs782244208
|
|
|
NM_001375524.1(TRRAP):c.1722G>T (p.Gln574His)
|
rs782008519
|
|
|
NM_001375524.1(TRRAP):c.2143A>G (p.Lys715Glu)
|
rs2484719540
|
|
|
NM_001375524.1(TRRAP):c.2622+3A>G
|
rs1789570916
|
|
|
NM_001375524.1(TRRAP):c.2858_2860dup (p.Ala953_Asn954insThr)
|
rs2484759215
|
|
|
NM_001375524.1(TRRAP):c.4711C>T (p.Arg1571Ter)
|
rs2484847813
|
|
|
NM_001375524.1(TRRAP):c.4884G>C (p.Gln1628His)
|
rs2484851717
|
|
|
NM_001375524.1(TRRAP):c.5807C>T (p.Pro1936Leu)
|
rs2484874638
|
|
|
NM_001375524.1(TRRAP):c.6083T>A (p.Ile2028Asn)
|
rs2484878761
|
|
|
NM_001375524.1(TRRAP):c.610C>A (p.Arg204Ser)
|
rs573134393
|
|
|
NM_001375524.1(TRRAP):c.6189G>C (p.Gln2063His)
|
rs2484879564
|
|
|
NM_001375524.1(TRRAP):c.6485C>T (p.Thr2162Ile)
|
rs1054073845
|
|
|
NM_001375524.1(TRRAP):c.8167G>A (p.Glu2723Lys)
|
rs2484948317
|
|
|
NM_001375524.1(TRRAP):c.8407G>A (p.Ala2803Thr)
|
rs2484954138
|
|
|
NM_001375524.1(TRRAP):c.9128T>C (p.Ile3043Thr)
|
rs2484977207
|
|
|
NM_001375524.1(TRRAP):c.9130G>T (p.Ala3044Ser)
|
rs773327749
|
|
|
NM_001375524.1(TRRAP):c.979C>T (p.Leu327Phe)
|
rs2484690753
|
|
|
NM_001375808.2(LPIN2):c.1135G>A (p.Ala379Thr)
|
rs2144194577
|
|
|
NM_001375808.2(LPIN2):c.1915C>G (p.Leu639Val)
|
rs2510246004
|
|
|
NM_001375808.2(LPIN2):c.1997A>G (p.Tyr666Cys)
|
rs917892141
|
|
|
NM_001375808.2(LPIN2):c.578C>T (p.Ala193Val)
|
rs1290039087
|
|
|
NM_001375808.2(LPIN2):c.622G>A (p.Glu208Lys)
|
rs2510267554
|
|
|
NM_001375808.2(LPIN2):c.659A>G (p.His220Arg)
|
rs778378973
|
|
|
NM_001376.5(DYNC1H1):c.10234C>G (p.Leu3412Val)
|
rs2503823521
|
|
|
NM_001376.5(DYNC1H1):c.10676G>A (p.Arg3559His)
|
rs777583611
|
|
|
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala)
|
rs1555412552
|
|
|
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
|
rs2048780089
|
|
|
NM_001376.5(DYNC1H1):c.1475C>T (p.Ala492Val)
|
rs2503693034
|
|
|
NM_001376.5(DYNC1H1):c.1573C>A (p.Leu525Ile)
|
rs767736004
|
|
|
NM_001376.5(DYNC1H1):c.1772T>C (p.Leu591Pro)
|
rs2503693802
|
|
|
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln)
|
rs2141275001
|
|
|
NM_001376.5(DYNC1H1):c.253A>G (p.Lys85Glu)
|
rs2503644728
|
|
|
NM_001376.5(DYNC1H1):c.2585G>A (p.Arg862His)
|
rs2141275779
|
|
|
NM_001376.5(DYNC1H1):c.2671C>A (p.His891Asn)
|
rs1442965290
|
|
|
NM_001376.5(DYNC1H1):c.3059G>A (p.Arg1020Gln)
|
rs2503713273
|
|
|
NM_001376.5(DYNC1H1):c.3953G>A (p.Arg1318His)
|
rs143114300
|
|
|
NM_001376.5(DYNC1H1):c.3961-10T>C
|
rs2503727090
|
|
|
NM_001376.5(DYNC1H1):c.5344C>A (p.Leu1782Met)
|
rs2503739956
|
|
|
NM_001376.5(DYNC1H1):c.6379A>G (p.Ile2127Val)
|
rs2503752192
|
|
|
NM_001376.5(DYNC1H1):c.7184_7186del (p.Gln2395del)
|
rs2503765557
|
|
|
NM_001376.5(DYNC1H1):c.7187G>A (p.Arg2396Gln)
|
rs2503765586
|
|
|
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)
|
rs1057518888
|
|
|
NM_001376.5(DYNC1H1):c.8432G>T (p.Arg2811Ile)
|
rs774929269
|
|
|
NM_001376.5(DYNC1H1):c.8444C>T (p.Thr2815Ile)
|
rs1275034460
|
|
|
NM_001376.5(DYNC1H1):c.8528G>A (p.Arg2843Lys)
|
rs2048400907
|
|
|
NM_001376.5(DYNC1H1):c.9073G>A (p.Glu3025Lys)
|
rs2503804892
|
|
|
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
|
rs751257027
|
|
|
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
|
rs1423537916
|
|
|
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val)
|
rs2149686920
|
|
|
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
|
rs2096602430
|
|
|
NM_001376571.1(MADD):c.2411G>A (p.Arg804Gln)
|
rs376589140
|
|
|
NM_001376571.1(MADD):c.4887G>T (p.Ser1629=)
|
rs184207033
|
|
|
NM_001377.3(DYNC2H1):c.10655A>C (p.Gln3552Pro)
|
rs1865202652
|
|
|
NM_001377.3(DYNC2H1):c.11135G>A (p.Arg3712His)
|
rs756326880
|
|
|
NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)
|
rs1387306682
|
|
|
NM_001377.3(DYNC2H1):c.4166C>T (p.Thr1389Ile)
|
rs2497073229
|
|
|
NM_001377.3(DYNC2H1):c.7912T>A (p.Ser2638Thr)
|
rs2496352268
|
|
|
NM_001377.3(DYNC2H1):c.9041G>T (p.Arg3014Ile)
|
rs2496454042
|
|
|
NM_001377229.1(DISP1):c.1472T>C (p.Ile491Thr)
|
rs1195332062
|
|
|
NM_001377229.1(DISP1):c.807_810dup (p.Ser271fs)
|
rs2528201120
|
|
|
NM_001378.3(DYNC1I2):c.245-19T>G
|
rs2544933640
|
|
|
NM_001378030.1(CCDC78):c.1053+1G>A
|
rs774507863
|
|
|
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg)
|
rs780209156
|
|
|
NM_001378030.1(CCDC78):c.267+1G>C
|
rs959368886
|
|
|
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)
|
rs767433826
|
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
|
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
|
rs375333284
|
|
|
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
|
rs2469877204
|
|
|
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
|
rs2469997047
|
|
|
NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)
|
rs2470025922
|
|
|
NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)
|
rs1266257640
|
|
|
NM_001378183.1(PIEZO2):c.2297T>C (p.Met766Thr)
|
rs2510737161
|
|
|
NM_001378183.1(PIEZO2):c.2598C>A (p.Asp866Glu)
|
rs2038681755
|
|
|
NM_001378183.1(PIEZO2):c.3844G>T (p.Asp1282Tyr)
|
rs2037958034
|
|
|
NM_001378414.1(HDAC4):c.2836A>G (p.Thr946Ala)
|
rs2470267619
|
|
|
NM_001378414.1(HDAC4):c.412C>A (p.Arg138Ser)
|
rs745953691
|
|
|
NM_001378418.1(TCF20):c.1378A>T (p.Ser460Cys)
|
rs2518236837
|
|
|
NM_001378418.1(TCF20):c.1461G>T (p.Lys487Asn)
|
rs2518236043
|
|
|
NM_001378418.1(TCF20):c.1484C>G (p.Ala495Gly)
|
rs2518235815
|
|
|
NM_001378418.1(TCF20):c.1852G>A (p.Glu618Lys)
|
rs2518232385
|
|
|
NM_001378418.1(TCF20):c.2045A>G (p.Gln682Arg)
|
rs2518230425
|
|
|
NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala)
|
rs1921140611
|
|
|
NM_001378418.1(TCF20):c.2996A>T (p.Glu999Val)
|
rs767888962
|
|
|
NM_001378418.1(TCF20):c.4367C>G (p.Ala1456Gly)
|
rs2518207407
|
|
|
NM_001378418.1(TCF20):c.4379C>A (p.Pro1460His)
|
rs775895698
|
|
|
NM_001378418.1(TCF20):c.4858C>T (p.Pro1620Ser)
|
rs2518203592
|
|
|
NM_001378418.1(TCF20):c.4981G>A (p.Val1661Met)
|
rs2518202441
|
|
|
NM_001378418.1(TCF20):c.5308CAG[6] (p.Gln1774dup)
|
rs745763431
|
|
|
NM_001378418.1(TCF20):c.5402C>G (p.Ser1801Cys)
|
rs2518198895
|
|
|
NM_001378418.1(TCF20):c.5445C>T (p.Gly1815=)
|
rs1920926856
|
|
|
NM_001378418.1(TCF20):c.5702A>G (p.Asn1901Ser)
|
rs1236775820
|
|
|
NM_001378418.1(TCF20):c.719CCT[5] (p.Ser245_Ser246del)
|
rs754279263
|
|
|
NM_001378452.1(ITPR1):c.2753G>A (p.Gly918Asp)
|
rs775249713
|
|
|
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His)
|
rs771308450
|
|
|
NM_001378452.1(ITPR1):c.3950A>C (p.Gln1317Pro)
|
rs2469819078
|
|
|
NM_001378452.1(ITPR1):c.4252G>T (p.Val1418Leu)
|
rs754747856
|
|
|
NM_001378452.1(ITPR1):c.4633T>C (p.Cys1545Arg)
|
rs1559731146
|
|
|
NM_001378452.1(ITPR1):c.5011C>G (p.Gln1671Glu)
|
rs2469884453
|
|
|
NM_001378452.1(ITPR1):c.6746A>G (p.Asn2249Ser)
|
rs528363626
|
|
|
NM_001378452.1(ITPR1):c.7003C>T (p.Leu2335Phe)
|
rs2125423322
|
|
|
NM_001378452.1(ITPR1):c.7660G>T (p.Gly2554Trp)
|
rs752281590
|
|
|
NM_001378452.1(ITPR1):c.8074G>C (p.Val2692Leu)
|
rs2050959501
|
|
|
NM_001378452.1(ITPR1):c.826A>C (p.Thr276Pro)
|
rs2470620095
|
|
|
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)
|
rs886056317
|
|
|
NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)
|
rs2466445438
|
|
|
NM_001378454.1(ALMS1):c.12038G>A (p.Gly4013Asp)
|
rs775453122
|
|
|
NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu)
|
rs2466304000
|
|
|
NM_001378457.1(DMXL2):c.6098C>G (p.Thr2033Ser)
|
rs1365222801
|
|
|
NM_001378457.1(DMXL2):c.6328C>G (p.Leu2110Val)
|
rs2041953984
|
|
|
NM_001378457.1(DMXL2):c.6350A>G (p.Asp2117Gly)
|
rs1595955205
|
|
|
NM_001378457.1(DMXL2):c.7268G>T (p.Arg2423Ile)
|
rs1477285232
|
|
|
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
|
rs778385903
|
|
|
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
|
rs2541413910
|
|
|
NM_001378615.1(CC2D2A):c.3159T>G (p.Ile1053Met)
|
rs1719718344
|
|
|
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val)
|
rs1437673943
|
|
|
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln)
|
rs772016081
|
|
|
NM_001378615.1(CC2D2A):c.428T>G (p.Phe143Cys)
|
rs2474890564
|
|
|
NM_001378778.1(MPDZ):c.1294G>T (p.Asp432Tyr)
|
rs2495885840
|
|
|
NM_001378778.1(MPDZ):c.1739C>G (p.Ser580Cys)
|
rs149265684
|
|
|
NM_001378778.1(MPDZ):c.1997G>C (p.Gly666Ala)
|
rs1160448075
|
|
|
NM_001378778.1(MPDZ):c.3151G>C (p.Gly1051Arg)
|
rs2492307046
|
|
|
NM_001378778.1(MPDZ):c.3800C>T (p.Thr1267Ile)
|
rs1482299317
|
|
|
NM_001378778.1(MPDZ):c.821G>A (p.Gly274Glu)
|
rs750474727
|
|
|
NM_001378964.1(CDON):c.101dup (p.Pro35fs)
|
rs2497264613
|
|
|
NM_001378964.1(CDON):c.1576G>T (p.Ala526Ser)
|
rs2497167293
|
|
|
NM_001378964.1(CDON):c.3011G>C (p.Gly1004Ala)
|
rs758442757
|
|
|
NM_001378969.1(KCND3):c.165G>T (p.Arg55Ser)
|
rs1675017980
|
|
|
NM_001378974.1(FBXW11):c.529C>T (p.Arg177Ter)
|
rs2480271119
|
|
|
NM_001378974.1(FBXW11):c.898dup (p.His300fs)
|
rs2480137223
|
|
|
NM_001379029.1(CERT1):c.-140C>A
|
rs993938595
|
|
|
NM_001379029.1(CERT1):c.-41A>T
|
rs757255215
|
|
|
NM_001379029.1(CERT1):c.1073C>G (p.Ala358Gly)
|
rs368093187
|
|
|
NM_001379029.1(CERT1):c.1201G>T (p.Val401Leu)
|
rs114564914
|
|
|
NM_001379029.1(CERT1):c.734C>T (p.Ala245Val)
|
rs2479084304
|
|
|
NM_001379081.2(FREM1):c.4443-3C>G
|
rs906639740
|
|
|
NM_001379110.1(SLC9A6):c.1307-8C>T
|
rs2071191984
|
|
|
NM_001379110.1(SLC9A6):c.1313G>A (p.Arg438His)
|
rs2148189865
|
|
|
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys)
|
rs1556622379
|
|
|
NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)
|
rs1556623217
|
|
|
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg)
|
rs2145838985
|
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
|
NM_001379200.1(TBX1):c.94G>A (p.Ala32Thr)
|
rs1307122252
|
|
|
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
|
rs1936822007
|
|
|
NM_001379270.1(CNGA1):c.1166T>G (p.Val389Gly)
|
rs2475750245
|
|
|
NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)
|
rs2507005497
|
|
|
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
|
rs1322586390
|
|
|
NM_001379286.1(ZNF423):c.376A>G (p.Met126Val)
|
rs150427822
|
|
|
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg)
|
rs2151705854
|
|
|
NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile)
|
rs933720635
|
|
|
NM_001379403.1(WDR26):c.460G>C (p.Ala154Pro)
|
rs2464797052
|
|
|
NM_001379451.1(BCORL1):c.2320G>T (p.Gly774Cys)
|
rs2124449854
|
|
|
NM_001379451.1(BCORL1):c.2378G>T (p.Gly793Val)
|
rs1317473632
|
|
|
NM_001379451.1(BCORL1):c.2582G>A (p.Arg861Lys)
|
rs2522677367
|
|
|
NM_001379451.1(BCORL1):c.3233G>C (p.Gly1078Ala)
|
rs1221402807
|
|
|
NM_001379451.1(BCORL1):c.4810A>T (p.Ser1604Cys)
|
rs2522870520
|
|
|
NM_001379659.1(ZNF142):c.5036del (p.Pro1679fs)
|
rs771085529
|
|
|
NM_001379659.1(ZNF142):c.88C>A (p.Pro30Thr)
|
rs2469791404
|
|
|
NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)
|
rs1156424752
|
|
|
NM_001382.4(DPAGT1):c.853A>C (p.Asn285His)
|
rs2497504281
|
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
rs527372531
|
|
|
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr)
|
rs751520286
|
|
|
NM_001382567.1(STIM1):c.643A>C (p.Met215Leu)
|
rs2498370315
|
|
|
NM_001383.6(DPH1):c.139C>T (p.Arg47Trp)
|
rs566200844
|
|
|
NM_001383.6(DPH1):c.65G>A (p.Arg22Gln)
|
rs200134501
|
|
|
NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser)
|
rs1221789795
|
|
|
NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg)
|
rs561848950
|
|
|
NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro)
|
rs1203733741
|
|
|
NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala)
|
rs1438985629
|
|
|
NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly)
|
rs79067453
|
|
|
NM_001384140.1(PCDH15):c.1612G>A (p.Glu538Lys)
|
rs749305630
|
|
|
NM_001384140.1(PCDH15):c.3818G>A (p.Arg1273His)
|
rs1435590369
|
|
|
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)
|
rs1465450941
|
|
|
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)
|
rs559560065
|
|
|
NM_001384479.1(AGT):c.1351T>A (p.Phe451Ile)
|
rs2527699647
|
|
|
NM_001384479.1(AGT):c.749del (p.Thr250fs)
|
rs2527714738
|
|
|
NM_001384732.1(CPLANE1):c.1081C>T (p.Pro361Ser)
|
rs758553385
|
|
|
NM_001384732.1(CPLANE1):c.376G>A (p.Gly126Arg)
|
rs2548926635
|
|
|
NM_001384732.1(CPLANE1):c.4481+4C>A
|
rs769785905
|
|
|
NM_001384732.1(CPLANE1):c.6382G>A (p.Ala2128Thr)
|
rs772723784
|
|
|
NM_001385012.1(NBEA):c.16C>T (p.Pro6Ser)
|
rs2059070228
|
|
|
NM_001385012.1(NBEA):c.1808C>T (p.Ala603Val)
|
rs2503043108
|
|
|
NM_001385012.1(NBEA):c.2103T>A (p.Asp701Glu)
|
rs2066607742
|
|
|
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg)
|
rs2503622228
|
|
|
NM_001385012.1(NBEA):c.3052T>G (p.Tyr1018Asp)
|
rs771005605
|
|
|
NM_001385012.1(NBEA):c.5008A>G (p.Ile1670Val)
|
rs1273803183
|
|
|
NM_001385012.1(NBEA):c.5521+4T>G
|
rs1773925539
|
|
|
NM_001385012.1(NBEA):c.6118A>G (p.Lys2040Glu)
|
rs2549400900
|
|
|
NM_001385012.1(NBEA):c.6841A>G (p.Lys2281Glu)
|
rs2549722782
|
|
|
NM_001385012.1(NBEA):c.7252G>A (p.Ala2418Thr)
|
rs2549816975
|
|
|
NM_001385012.1(NBEA):c.8711A>G (p.Asn2904Ser)
|
rs1242778169
|
|
|
NM_001385012.1(NBEA):c.95_96delinsAT (p.Ser32Asn)
|
rs2500554387
|
|
|
NM_001386125.1(OBSCN):c.12244_12245delinsTT (p.Ala4082Phe)
|
rs2532072456
|
|
|
NM_001386125.1(OBSCN):c.17726G>A (p.Gly5909Asp)
|
rs2545230178
|
|
|
NM_001386125.1(OBSCN):c.18887T>G (p.Met6296Arg)
|
rs2545442207
|
|
|
NM_001386135.1(AFF3):c.1518C>A (p.Asp506Glu)
|
rs2546110903
|
|
|
NM_001386298.1(CIC):c.2878C>T (p.Pro960Ser)
|
rs756596852
|
|
|
NM_001386298.1(CIC):c.3025G>A (p.Ala1009Thr)
|
rs1445017300
|
|
|
NM_001386298.1(CIC):c.3812G>C (p.Ser1271Thr)
|
rs2513879594
|
|
|
NM_001386298.1(CIC):c.4674CGCCCC[3] (p.Pro1562_Ser1563insAlaPro)
|
rs1265581254
|
|
|
NM_001386393.1(PANK2):c.1030_1055delinsATGGAGCC (p.Tyr344_Gly352delinsMetGluPro)
|
rs2515506390
|
|
|
NM_001386795.1(DTNA):c.2216A>T (p.Asn739Ile)
|
rs1413405239
|
|
|
NM_001386795.1(DTNA):c.883C>T (p.Pro295Ser)
|
rs754875267
|
|
|
NM_001387690.1(KATNAL2):c.1117A>G (p.Ser373Gly)
|
rs2062287076
|
|
|
NM_001387690.1(KATNAL2):c.331del (p.Arg111fs)
|
rs2511473462
|
|
|
NM_001389.5(DSCAM):c.1814del (p.Pro605fs)
|
rs2517631148
|
|
|
NM_001389.5(DSCAM):c.3105C>G (p.Phe1035Leu)
|
rs2517198739
|
|
|
NM_001389.5(DSCAM):c.3889A>G (p.Thr1297Ala)
|
rs2517009513
|
|
|
NM_001389.5(DSCAM):c.4040G>T (p.Arg1347Leu)
|
rs775207017
|
|
|
NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs)
|
rs1219990220
|
|
|
NM_001393769.1(MED12L):c.1626+4G>A
|
rs1300408938
|
|
|
NM_001393769.1(MED12L):c.1861C>T (p.Leu621Phe)
|
rs2531038278
|
|
|
NM_001393769.1(MED12L):c.3757A>G (p.Ile1253Val)
|
rs2473795336
|
|
|
NM_001393769.1(MED12L):c.5330C>T (p.Pro1777Leu)
|
rs764554446
|
|
|
NM_001393769.1(MED12L):c.5863C>T (p.Arg1955Trp)
|
rs751997643
|
|
|
NM_001393769.1(MED12L):c.6422G>C (p.Gly2141Ala)
|
rs1011092433
|
|
|
NM_001394062.1(MACF1):c.1147G>C (p.Gly383Arg)
|
rs2521376002
|
|
|
NM_001394062.1(MACF1):c.13663_13664dup (p.Ala4556fs)
|
rs2522593863
|
|
|
NM_001394062.1(MACF1):c.1522C>A (p.Gln508Lys)
|
rs1161043113
|
|
|
NM_001394062.1(MACF1):c.21196+1G>A
|
rs2523310633
|
|
|
NM_001394062.1(MACF1):c.22286T>A (p.Ile7429Asn)
|
rs749860219
|
|
|
NM_001394062.1(MACF1):c.4379T>G (p.Leu1460Trp)
|
rs2521912898
|
|
|
NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)
|
rs764683533
|
|
|
NM_001394372.1(BICRA):c.2774C>T (p.Thr925Ile)
|
rs1473327698
|
|
|
NM_001394372.1(BICRA):c.3081C>T (p.Leu1027=)
|
rs1973321543
|
|
|
NM_001394372.1(BICRA):c.334A>G (p.Asn112Asp)
|
rs922454643
|
|
|
NM_001394372.1(BICRA):c.4253C>T (p.Pro1418Leu)
|
rs1450312242
|
|
|
NM_001394372.1(BICRA):c.937G>C (p.Ala313Pro)
|
rs141698853
|
|
|
NM_001394998.1(TANC2):c.1441+3A>G
|
rs2509887871
|
|
|
NM_001394998.1(TANC2):c.1954A>G (p.Thr652Ala)
|
rs2510081456
|
|
|
NM_001394998.1(TANC2):c.5403C>G (p.Ile1801Met)
|
rs766127499
|
|
|
NM_001394998.1(TANC2):c.5404G>A (p.Gly1802Arg)
|
rs2049012443
|
|
|
NM_001394998.1(TANC2):c.6077C>T (p.Ser2026Phe)
|
rs1599097963
|
|
|
NM_001394998.1(TANC2):c.6098T>C (p.Val2033Ala)
|
rs2510612215
|
|
|
NM_001394998.1(TANC2):c.6121C>G (p.Gln2041Glu)
|
rs775003949
|
|
|
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)
|
rs547817208
|
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
|
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)
|
rs2020256932
|
|
|
NM_001399.5(EDA):c.910T>G (p.Tyr304Asp)
|
rs2520343494
|
|
|
NM_001424.6(EMP2):c.188C>T (p.Ala63Val)
|
rs150986636
|
|
|
NM_001429.4(EP300):c.12T>A (p.Asn4Lys)
|
rs758604225
|
|
|
NM_001429.4(EP300):c.194A>G (p.Gln65Arg)
|
rs764734253
|
|
|
NM_001429.4(EP300):c.3362T>C (p.Ile1121Thr)
|
rs775528334
|
|
|
NM_001429.4(EP300):c.3565G>A (p.Ala1189Thr)
|
rs2145749718
|
|
|
NM_001429.4(EP300):c.3811G>C (p.Val1271Leu)
|
rs190692702
|
|
|
NM_001429.4(EP300):c.4306T>C (p.Trp1436Arg)
|
rs2517823939
|
|
|
NM_001429.4(EP300):c.5702CAG[3] (p.Ala1902_Gly1903insAla)
|
rs2517833053
|
|
|
NM_001429.4(EP300):c.574A>G (p.Met192Val)
|
rs771650739
|
|
|
NM_001429.4(EP300):c.5938T>G (p.Leu1980Val)
|
rs2517833690
|
|
|
NM_001429.4(EP300):c.598C>G (p.Arg200Gly)
|
rs769721953
|
|
|
NM_001430.5(EPAS1):c.2069G>A (p.Arg690Gln)
|
rs1021730994
|
|
|
NM_001430.5(EPAS1):c.241G>A (p.Ala81Thr)
|
rs202074818
|
|
|
NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)
|
rs2127587326
|
|
|
NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)
|
rs777938233
|
|
|
NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)
|
rs1363572881
|
|
|
NM_001448.3(GPC4):c.512G>A (p.Arg171Gln)
|
rs2520448824
|
|
|
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del)
|
rs567719270
|
|
|
NM_001457.4(FLNB):c.1588G>A (p.Gly530Arg)
|
rs773943113
|
|
|
NM_001457.4(FLNB):c.1711G>A (p.Val571Met)
|
rs760127618
|
|
|
NM_001457.4(FLNB):c.3603G>A (p.Met1201Ile)
|
rs1257413920
|
|
|
NM_001457.4(FLNB):c.5101A>G (p.Thr1701Ala)
|
rs764808802
|
|
|
NM_001457.4(FLNB):c.6367+3G>A
|
rs1239287078
|
|
|
NM_001457.4(FLNB):c.7333A>T (p.Met2445Leu)
|
rs2471272303
|
|
|
NM_001457.4(FLNB):c.785G>A (p.Arg262Lys)
|
rs2471006812
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.1210+3A>G
|
rs2536621378
|
|
|
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg)
|
rs1808210779
|
|
|
NM_001458.5(FLNC):c.1382G>A (p.Arg461His)
|
rs377587489
|
|
|
NM_001458.5(FLNC):c.1472T>A (p.Val491Glu)
|
rs2536624769
|
|
|
NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu)
|
rs776881635
|
|
|
NM_001458.5(FLNC):c.172A>G (p.Thr58Ala)
|
rs956092685
|
|
|
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
|
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)
|
rs975517733
|
|
|
NM_001458.5(FLNC):c.2087C>T (p.Ala696Val)
|
rs1585156674
|
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
rs375414341
|
|
|
NM_001458.5(FLNC):c.2221A>G (p.Ile741Val)
|
rs1808367948
|
|
|
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)
|
rs1374458008
|
|
|
NM_001458.5(FLNC):c.250C>G (p.Arg84Gly)
|
rs1807860198
|
|
|
NM_001458.5(FLNC):c.2546A>T (p.Asn849Ile)
|
rs755425307
|
|
|
NM_001458.5(FLNC):c.259C>G (p.His87Asp)
|
rs2536605541
|
|
|
NM_001458.5(FLNC):c.2642G>C (p.Gly881Ala)
|
rs377095070
|
|
|
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn)
|
rs1554398845
|
|
|
NM_001458.5(FLNC):c.2789_2800del (p.Val930_Thr933del)
|
rs1562995872
|
|
|
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn)
|
rs1808430365
|
|
|
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala)
|
rs568452175
|
|
|
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr)
|
rs1179474749
|
|
|
NM_001458.5(FLNC):c.2994A>T (p.Gln998His)
|
rs558712725
|
|
|
NM_001458.5(FLNC):c.3035C>G (p.Pro1012Arg)
|
rs1260044015
|
|
|
NM_001458.5(FLNC):c.3262A>G (p.Lys1088Glu)
|
rs772895342
|
|
|
NM_001458.5(FLNC):c.330G>C (p.Glu110Asp)
|
rs931122078
|
|
|
NM_001458.5(FLNC):c.3448C>G (p.Arg1150Gly)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3496G>A (p.Glu1166Lys)
|
rs1808493748
|
|
|
NM_001458.5(FLNC):c.3503G>A (p.Gly1168Asp)
|
rs2536637875
|
|
|
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys)
|
rs751963297
|
|
|
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup)
|
rs1808507351
|
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile)
|
rs776862347
|
|
|
NM_001458.5(FLNC):c.3920A>G (p.Asn1307Ser)
|
rs1266842958
|
|
|
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg)
|
rs768725407
|
|
|
NM_001458.5(FLNC):c.4176A>C (p.Glu1392Asp)
|
rs1296284665
|
|
|
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
|
rs763218103
|
|
|
NM_001458.5(FLNC):c.4354G>A (p.Gly1452Arg)
|
rs2536645838
|
|
|
NM_001458.5(FLNC):c.4577G>C (p.Arg1526Pro)
|
rs374729872
|
|
|
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn)
|
rs780133859
|
|
|
NM_001458.5(FLNC):c.4928-3del
|
rs2536649812
|
|
|
NM_001458.5(FLNC):c.5014G>A (p.Ala1672Thr)
|
rs777955543
|
|
|
NM_001458.5(FLNC):c.5048C>T (p.Ser1683Phe)
|
rs2536650489
|
|
|
NM_001458.5(FLNC):c.5275C>G (p.Pro1759Ala)
|
rs892618706
|
|
|
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
|
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu)
|
rs1408298919
|
|
|
NM_001458.5(FLNC):c.5813C>G (p.Pro1938Arg)
|
rs764747370
|
|
|
NM_001458.5(FLNC):c.5912A>C (p.Glu1971Ala)
|
rs2536659282
|
|
|
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu)
|
rs767053963
|
|
|
NM_001458.5(FLNC):c.6137T>G (p.Val2046Gly)
|
rs2536660437
|
|
|
NM_001458.5(FLNC):c.6256A>G (p.Ile2086Val)
|
rs2536662094
|
|
|
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala)
|
rs749292393
|
|
|
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)
|
rs371455516
|
|
|
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)
|
rs769106207
|
|
|
NM_001458.5(FLNC):c.6560G>T (p.Arg2187Leu)
|
rs1808941275
|
|
|
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr)
|
rs1585152566
|
|
|
NM_001458.5(FLNC):c.6953G>T (p.Arg2318Leu)
|
rs749235580
|
|
|
NM_001458.5(FLNC):c.7037G>A (p.Gly2346Asp)
|
rs2536665890
|
|
|
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)
|
rs1390516682
|
|
|
NM_001458.5(FLNC):c.7091G>C (p.Arg2364Pro)
|
rs201672146
|
|
|
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr)
|
rs2128939641
|
|
|
NM_001458.5(FLNC):c.7396A>G (p.Ile2466Val)
|
rs1220555177
|
|
|
NM_001458.5(FLNC):c.7409C>A (p.Pro2470His)
|
rs2128940221
|
|
|
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys)
|
rs372504725
|
|
|
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala)
|
rs765967888
|
|
|
NM_001458.5(FLNC):c.7778C>T (p.Thr2593Ile)
|
rs2536671618
|
|
|
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln)
|
rs767794768
|
|
|
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)
|
rs112180788
|
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
|
NM_001465.6(FYB1):c.405C>G (p.Asn135Lys)
|
rs1417379260
|
|
|
NM_001466.4(FZD2):c.407T>A (p.Leu136Gln)
|
rs2544583695
|
|
|
NM_001481.3(DRC4):c.925-2A>C
|
rs777425064
|
|
|
NM_001492.6(GDF1):c.645GGCGCT[1] (p.216AL[1])
|
rs2055909568
|
|
|
NM_001493.3(GDI1):c.517C>T (p.Arg173Trp)
|
rs782575041
|
|
|
NM_001497.4(B4GALT1):c.487A>G (p.Met163Val)
|
rs940141048
|
|
|
NM_001498.4(GCLC):c.1004A>G (p.Tyr335Cys)
|
rs957703275
|
|
|
NM_001498.4(GCLC):c.1106A>G (p.Gln369Arg)
|
rs202143387
|
|
|
NM_001498.4(GCLC):c.1267A>G (p.Arg423Gly)
|
rs2481338915
|
|
|
NM_001498.4(GCLC):c.1280G>C (p.Arg427Pro)
|
rs2481338888
|
|
|
NM_001498.4(GCLC):c.1478-3C>G
|
rs2481327634
|
|
|
NM_001498.4(GCLC):c.1538A>T (p.Glu513Val)
|
rs1241928841
|
|
|
NM_001498.4(GCLC):c.1743C>G (p.Ile581Met)
|
rs138321238
|
|
|
NM_001498.4(GCLC):c.364G>C (p.Ala122Pro)
|
rs1368479227
|
|
|
NM_001519.4(BRF1):c.1947GGA[1] (p.Glu650del)
|
rs769048173
|
|
|
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
|
rs769118115
|
|
|
NM_001540.5(HSPB1):c.275C>A (p.Ala92Glu)
|
rs771014888
|
|
|
NM_001555.5(IGSF1):c.1007G>A (p.Gly336Asp)
|
rs767952076
|
|
|
NM_001556.3(IKBKB):c.139C>T (p.Arg47Trp)
|
rs777820763
|
|
|
NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala)
|
rs2496786522
|
|
|
NM_001567.4(INPPL1):c.3087C>G (p.His1029Gln)
|
rs2539244992
|
|
|
NM_001567.4(INPPL1):c.724C>T (p.Pro242Ser)
|
rs2539197926
|
|
|
NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala)
|
rs1157450521
|
|
|
NM_001605.3(AARS1):c.2156C>G (p.Ser719Cys)
|
rs764070785
|
|
|
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn)
|
rs1217292644
|
|
|
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)
|
rs2507020978
|
|
|
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
|
rs762420332
|
|
|
NM_001606.5(ABCA2):c.4085_4102del (p.Arg1362_Thr1367del)
|
rs778937299
|
|
|
NM_001606.5(ABCA2):c.4196C>A (p.Pro1399His)
|
rs375992232
|
|
|
NM_001606.5(ABCA2):c.459C>G (p.Asp153Glu)
|
rs1030236619
|
|
|
NM_001606.5(ABCA2):c.5188G>A (p.Val1730Ile)
|
rs192038143
|
|
|
NM_001606.5(ABCA2):c.923C>G (p.Ser308Trp)
|
rs775540856
|
|
|
NM_001609.4(ACADSB):c.202+3A>C
|
rs2493641425
|
|
|
NM_001611.5(ACP5):c.766G>C (p.Val256Leu)
|
rs146196342
|
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
|
NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu)
|
rs1555666611
|
|
|
NM_001615.4(ACTG2):c.348C>G (p.Asn116Lys)
|
rs757905857
|
|
|
NM_001615.4(ACTG2):c.616G>A (p.Glu206Lys)
|
rs2466915651
|
|
|
NM_001655.5(ARCN1):c.1004A>G (p.Lys335Arg)
|
rs1938940159
|
|
|
NM_001673.5(ASNS):c.224A>T (p.Asn75Ile)
|
rs747624770
|
|
|
NM_001684.5(ATP2B4):c.902-2A>G
|
rs2545376826
|
|
|
NM_001687.5(ATP5F1D):c.349G>T (p.Glu117Ter)
|
rs753537314
|
|
|
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys)
|
rs1060505036
|
|
|
NM_001690.4(ATP6V1A):c.280A>G (p.Ile94Val)
|
rs766598300
|
|
|
NM_001690.4(ATP6V1A):c.671ATC[1] (p.His225del)
|
rs2549720484
|
|
|
NM_001692.4(ATP6V1B1):c.1102G>A (p.Glu368Lys)
|
rs2466303105
|
|
|
NM_001693.4(ATP6V1B2):c.43C>T (p.Pro15Ser)
|
rs376671385
|
|
|
NM_001693.4(ATP6V1B2):c.656TAG[1] (p.Val220del)
|
rs2486462913
|
|
|
NM_001698.3(AUH):c.1A>G (p.Met1Val)
|
rs991073240
|
|
|
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)
|
rs1827104191
|
|
|
NM_001710.6(CFB):c.124del (p.Gly41_Val42insTer)
|
rs2482670386
|
|
|
NM_001711.6(BGN):c.461C>A (p.Pro154Gln)
|
rs368542911
|
|
|
NM_001711.6(BGN):c.771G>C (p.Arg257Ser)
|
rs2521220779
|
|
|
NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)
|
rs1801609200
|
|
|
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
|
rs1206399907
|
|
|
NM_001733.7(C1R):c.203C>T (p.Ser68Phe)
|
rs1938272254
|
|
|
NM_001739.2(CA5A):c.83T>A (p.Met28Lys)
|
rs1382893580
|
|
|
NM_001744.6(CAMK4):c.303+2T>C
|
rs2531780272
|
|
|
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)
|
rs2056452215
|
|
|
NM_001754.5(RUNX1):c.351+1_351+2dup
|
rs2517481120
|
|
|
NM_001754.5(RUNX1):c.619C>G (p.Arg207Gly)
|
rs1555890007
|
|
|
NM_001770.6(CD19):c.24C>A (p.Phe8Leu)
|
rs1567503993
|
|
|
NM_001792.5(CDH2):c.728A>G (p.Asn243Ser)
|
rs1599027388
|
|
|
NM_001807.6(CEL):c.497del (p.Gly166fs)
|
rs2490425282
|
|
|
NM_001814.6(CTSC):c.319-3C>T
|
rs778525772
|
|
|
NM_001829.4(CLCN3):c.160+21300G>T
|
rs1730918328
|
|
|
NM_001829.4(CLCN3):c.2367-2092A>G
|
rs769894833
|
|
|
NM_001829.4(CLCN3):c.336del (p.Glu113fs)
|
rs2476990034
|
|
|
NM_001829.4(CLCN3):c.661T>C (p.Phe221Leu)
|
rs2477012519
|
|
|
NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)
|
rs2518889450
|
|
|
NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)
|
rs2518873619
|
|
|
NM_001844.5(COL2A1):c.1103C>T (p.Pro368Leu)
|
rs1219147595
|
|
|
NM_001844.5(COL2A1):c.1382C>G (p.Ala461Gly)
|
rs2540150882
|
|
|
NM_001844.5(COL2A1):c.1450C>A (p.Pro484Thr)
|
rs1437336337
|
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
|
NM_001844.5(COL2A1):c.1499T>C (p.Val500Ala)
|
rs2540148959
|
|
|
NM_001844.5(COL2A1):c.1528-81G>A
|
rs1592218132
|
|
|
NM_001844.5(COL2A1):c.2354G>A (p.Arg785Gln)
|
rs759073173
|
|
|
NM_001844.5(COL2A1):c.2518G>C (p.Gly840Arg)
|
rs1225906671
|
|
|
NM_001845.6(COL4A1):c.1360A>T (p.Ile454Leu)
|
rs373712845
|
|
|
NM_001845.6(COL4A1):c.1550C>A (p.Thr517Lys)
|
rs1269728194
|
|
|
NM_001845.6(COL4A1):c.1628A>G (p.Lys543Arg)
|
rs2501800682
|
|
|
NM_001845.6(COL4A1):c.2065A>G (p.Ile689Val)
|
rs778323040
|
|
|
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
|
rs1333599538
|
|
|
NM_001845.6(COL4A1):c.2404G>T (p.Gly802Cys)
|
rs746290868
|
|
|
NM_001845.6(COL4A1):c.2443C>A (p.Pro815Thr)
|
rs1878013970
|
|
|
NM_001845.6(COL4A1):c.269A>G (p.Lys90Arg)
|
rs2501607118
|
|
|
NM_001845.6(COL4A1):c.2993G>A (p.Ser998Asn)
|
rs1877890954
|
|
|
NM_001845.6(COL4A1):c.3273_3290del (p.Met1092_Gly1097del)
|
rs2501770987
|
|
|
NM_001845.6(COL4A1):c.3325+3A>T
|
rs1333818570
|
|
|
NM_001845.6(COL4A1):c.3635T>C (p.Met1212Thr)
|
rs965784572
|
|
|
NM_001845.6(COL4A1):c.3907T>A (p.Ser1303Thr)
|
rs2501752066
|
|
|
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)
|
rs1343193102
|
|
|
NM_001845.6(COL4A1):c.4975G>A (p.Val1659Ile)
|
rs752575604
|
|
|
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys)
|
rs1057517719
|
|
|
NM_001845.6(COL4A1):c.964A>G (p.Lys322Glu)
|
rs2501574482
|
|
|
NM_001846.4(COL4A2):c.186G>T (p.Gln62His)
|
rs2502050306
|
|
|
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)
|
rs199551935
|
|
|
NM_001846.4(COL4A2):c.4230_4257del (p.Pro1413fs)
|
rs2502206675
|
|
|
NM_001848.3(COL6A1):c.1056+4A>G
|
rs886043433
|
|
|
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
|
rs2526326045
|
|
|
NM_001848.3(COL6A1):c.1255G>T (p.Gly419Cys)
|
rs745485695
|
|
|
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)
|
rs778234022
|
|
|
NM_001848.3(COL6A1):c.1398+3A>G
|
rs2526332181
|
|
|
NM_001848.3(COL6A1):c.1402G>C (p.Glu468Gln)
|
rs1467389704
|
|
|
NM_001848.3(COL6A1):c.1427G>C (p.Gly476Ala)
|
rs2526336689
|
|
|
NM_001848.3(COL6A1):c.1461G>C (p.Glu487Asp)
|
rs1474176856
|
|
|
NM_001848.3(COL6A1):c.1525-3del
|
rs2526338394
|
|
|
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
|
rs771702139
|
|
|
NM_001848.3(COL6A1):c.2018A>G (p.His673Arg)
|
rs2526349461
|
|
|
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu)
|
rs138312247
|
|
|
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
|
rs1334833248
|
|
|
NM_001848.3(COL6A1):c.215A>C (p.Asn72Thr)
|
rs2077715289
|
|
|
NM_001848.3(COL6A1):c.2195C>T (p.Ser732Leu)
|
rs1556432119
|
|
|
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)
|
rs886042688
|
|
|
NM_001848.3(COL6A1):c.2354G>A (p.Gly785Asp)
|
rs2526351251
|
|
|
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu)
|
rs1203093809
|
|
|
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr)
|
rs1427066240
|
|
|
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)
|
rs1428047738
|
|
|
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)
|
rs544927344
|
|
|
NM_001848.3(COL6A1):c.2645G>T (p.Gly882Val)
|
rs1274335165
|
|
|
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly)
|
rs755340450
|
|
|
NM_001848.3(COL6A1):c.2808G>T (p.Lys936Asn)
|
rs754364018
|
|
|
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
|
rs147882179
|
|
|
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)
|
rs147882179
|
|
|
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)
|
rs145811554
|
|
|
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)
|
rs763228065
|
|
|
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
|
rs763228065
|
|
|
NM_001848.3(COL6A1):c.2904G>C (p.Glu968Asp)
|
rs776819960
|
|
|
NM_001848.3(COL6A1):c.2915T>C (p.Val972Ala)
|
rs1131691418
|
|
|
NM_001848.3(COL6A1):c.2924del (p.Gly975fs)
|
rs2526355394
|
|
|
NM_001848.3(COL6A1):c.2927G>T (p.Arg976Leu)
|
rs753485651
|
|
|
NM_001848.3(COL6A1):c.3044G>A (p.Gly1015Asp)
|
rs2526355760
|
|
|
NM_001848.3(COL6A1):c.379A>G (p.Thr127Ala)
|
rs886043850
|
|
|
NM_001848.3(COL6A1):c.388_399del (p.Asp130_Ile133del)
|
rs2526310862
|
|
|
NM_001848.3(COL6A1):c.475G>T (p.Gly159Trp)
|
rs1471465037
|
|
|
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val)
|
rs1385535913
|
|
|
NM_001848.3(COL6A1):c.617A>G (p.Asp206Gly)
|
rs2526316028
|
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
|
NM_001848.3(COL6A1):c.650A>C (p.Asp217Ala)
|
rs1177728735
|
|
|
NM_001848.3(COL6A1):c.663C>G (p.Ser221Arg)
|
rs2526316160
|
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
|
NM_001848.3(COL6A1):c.958-3_958-2del
|
rs746026745
|
|
|
NM_001848.3(COL6A1):c.98-3C>G
|
rs1353609979
|
|
|
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
|
rs754701639
|
|
|
NM_001849.4(COL6A2):c.1017C>G (p.Ile339Met)
|
rs766157503
|
|
|
NM_001849.4(COL6A2):c.1042C>T (p.Pro348Ser)
|
rs2516998685
|
|
|
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg)
|
rs753834270
|
|
|
NM_001849.4(COL6A2):c.1165G>T (p.Ala389Ser)
|
rs577375420
|
|
|
NM_001849.4(COL6A2):c.119A>C (p.Lys40Thr)
|
rs2516989049
|
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.1458+3_1458+6del
|
rs765084926
|
|
|
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser)
|
rs2078577021
|
|
|
NM_001849.4(COL6A2):c.1612G>C (p.Gly538Arg)
|
rs886044032
|
|
|
NM_001849.4(COL6A2):c.1649G>A (p.Arg550Lys)
|
rs373609986
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3])
|
rs773493556
|
|
|
NM_001849.4(COL6A2):c.1706G>T (p.Arg569Leu)
|
rs147158850
|
|
|
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser)
|
rs779979272
|
|
|
NM_001849.4(COL6A2):c.1817-3C>G
|
rs112645828
|
|
|
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
|
rs929008624
|
|
|
NM_001849.4(COL6A2):c.1858_1860del (p.Ile620del)
|
rs767423601
|
|
|
NM_001849.4(COL6A2):c.1874G>A (p.Ser625Asn)
|
rs2517016439
|
|
|
NM_001849.4(COL6A2):c.1931G>A (p.Arg644Lys)
|
rs2517016629
|
|
|
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)
|
rs547589437
|
|
|
NM_001849.4(COL6A2):c.1975C>G (p.Arg659Gly)
|
rs727502830
|
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
|
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg)
|
rs1245904841
|
|
|
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
|
rs752189678
|
|
|
NM_001849.4(COL6A2):c.2182_2184delinsATA (p.Val728Ile)
|
rs2517018087
|
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
|
NM_001849.4(COL6A2):c.2254G>T (p.Val752Phe)
|
rs557865000
|
|
|
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
|
rs2517018616
|
|
|
NM_001849.4(COL6A2):c.2380G>A (p.Ala794Thr)
|
rs1371625584
|
|
|
NM_001849.4(COL6A2):c.2423-2_2426del
|
rs2517019738
|
|
|
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly)
|
rs759689002
|
|
|
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla)
|
rs753952104
|
|
|
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys)
|
rs865872231
|
|
|
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)
|
rs369396198
|
|
|
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
|
rs1384516142
|
|
|
NM_001849.4(COL6A2):c.267G>C (p.Gln89His)
|
rs1452398707
|
|
|
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn)
|
rs112139050
|
|
|
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
|
rs144855400
|
|
|
NM_001849.4(COL6A2):c.2702_2724delinsCG (p.Ile901_Thr907del)
|
rs2517029715
|
|
|
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
|
rs746268077
|
|
|
NM_001849.4(COL6A2):c.2764G>A (p.Val922Met)
|
rs1382284283
|
|
|
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
|
rs111630733
|
|
|
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)
|
rs150168522
|
|
|
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
|
rs201854898
|
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
|
NM_001849.4(COL6A2):c.2924C>T (p.Ala975Val)
|
rs727502831
|
|
|
NM_001849.4(COL6A2):c.2940G>C (p.Val980=)
|
rs886044694
|
|
|
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup)
|
rs762259160
|
|
|
NM_001849.4(COL6A2):c.2968C>G (p.Leu990Val)
|
rs746012569
|
|
|
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del)
|
rs750794022
|
|
|
NM_001849.4(COL6A2):c.3005_3006del (p.Asp1001_Tyr1002insTer)
|
rs2517030392
|
|
|
NM_001849.4(COL6A2):c.3016G>A (p.Ala1006Thr)
|
rs1329172134
|
|
|
NM_001849.4(COL6A2):c.3019C>G (p.Gln1007Glu)
|
rs1555877377
|
|
|
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)
|
rs762516507
|
|
|
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr)
|
rs982087527
|
|
|
NM_001849.4(COL6A2):c.565G>A (p.Ala189Thr)
|
rs765361834
|
|
|
NM_001849.4(COL6A2):c.582G>C (p.Gln194His)
|
rs1601218622
|
|
|
NM_001849.4(COL6A2):c.599G>T (p.Gly200Val)
|
rs1382448759
|
|
|
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)
|
rs563449281
|
|
|
NM_001849.4(COL6A2):c.643G>T (p.Asp215Tyr)
|
rs563449281
|
|
|
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
|
rs2078418061
|
|
|
NM_001849.4(COL6A2):c.714G>A (p.Met238Ile)
|
rs963826946
|
|
|
NM_001849.4(COL6A2):c.801+2dup
|
rs2123620848
|
|
|
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
|
rs2078462673
|
|
|
NM_001849.4(COL6A2):c.957G>C (p.Gly319=)
|
rs2516997125
|
|
|
NM_001851.6(COL9A1):c.316G>C (p.Gly106Arg)
|
rs2483500547
|
|
|
NM_001852.4(COL9A2):c.1773C>G (p.Ile591Met)
|
rs374571094
|
|
|
NM_001853.4(COL9A3):c.1378G>T (p.Gly460Cys)
|
rs148610956
|
|
|
NM_001853.4(COL9A3):c.1680_1688del (p.561PPG[2])
|
rs776161550
|
|
|
NM_001853.4(COL9A3):c.552G>A (p.Gly184=)
|
rs886056909
|
|
|
NM_001854.4(COL11A1):c.2512G>A (p.Gly838Arg)
|
rs1557903375
|
|
|
NM_001854.4(COL11A1):c.2860A>C (p.Thr954Pro)
|
rs2525015083
|
|
|
NM_001854.4(COL11A1):c.3936_3962del (p.Phe1313_Gly1321del)
|
rs2524479306
|
|
|
NM_001854.4(COL11A1):c.4052G>T (p.Gly1351Val)
|
rs2524455621
|
|
|
NM_001854.4(COL11A1):c.4140+3A>T
|
rs1553196515
|
|
|
NM_001854.4(COL11A1):c.4213G>C (p.Gly1405Arg)
|
rs376137502
|
|
|
NM_001854.4(COL11A1):c.4669C>T (p.His1557Tyr)
|
rs1651069103
|
|
|
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.1142C>A (p.Thr381Asn)
|
rs2469127763
|
|
|
NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)
|
rs906184879
|
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
rs138718997
|
|
|
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)
|
rs778512579
|
|
|
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)
|
rs2469332651
|
|
|
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)
|
rs2469339832
|
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
|
NM_001876.4(CPT1A):c.986G>A (p.Arg329Lys)
|
rs2495588268
|
|
|
NM_001904.4(CTNNB1):c.2104G>C (p.Ala702Pro)
|
rs1302131125
|
|
|
NM_001917.5(DAO):c.953T>G (p.Ile318Ser)
|
rs747146248
|
|
|
NM_001918.5(DBT):c.500A>C (p.Lys167Thr)
|
rs1662637166
|
|
|
NM_001919.4(ECI1):c.300_303dup (p.Gly102fs)
|
rs2505510030
|
|
|
NM_001927.4(DES):c.100G>A (p.Val34Met)
|
rs761354307
|
|
|
NM_001927.4(DES):c.1030T>C (p.Ser344Pro)
|
rs886044226
|
|
|
NM_001927.4(DES):c.105C>G (p.Phe35Leu)
|
rs768166041
|
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
|
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)
|
rs121913000
|
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
rs1224165687
|
|
|
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)
|
rs1954443135
|
|
|
NM_001927.4(DES):c.1217G>T (p.Arg406Leu)
|
rs1057520275
|
|
|
NM_001927.4(DES):c.1245-3T>C
|
rs111427762
|
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
|
NM_001927.4(DES):c.1342A>G (p.Ile448Val)
|
rs1954523179
|
|
|
NM_001927.4(DES):c.1364A>T (p.Asp455Val)
|
rs2125172066
|
|
|
NM_001927.4(DES):c.380G>A (p.Arg127His)
|
rs397516694
|
|
|
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)
|
rs62636495
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
|
NM_001927.4(DES):c.43C>A (p.Arg15Ser)
|
rs756390565
|
|
|
NM_001927.4(DES):c.537_542dup (p.Arg180_Asp181insGluArg)
|
rs2545248305
|
|
|
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
|
rs1214890953
|
|
|
NM_001927.4(DES):c.554A>T (p.Asp185Val)
|
rs1278644037
|
|
|
NM_001927.4(DES):c.55G>C (p.Gly19Arg)
|
rs936853024
|
|
|
NM_001927.4(DES):c.610G>T (p.Ala204Ser)
|
rs1575014034
|
|
|
NM_001927.4(DES):c.625G>C (p.Ala209Pro)
|
rs1553603386
|
|
|
NM_001927.4(DES):c.709G>T (p.Ala237Ser)
|
rs397516697
|
|
|
NM_001927.4(DES):c.944G>A (p.Arg315His)
|
rs771455648
|
|
|
NM_001927.4(DES):c.956A>C (p.Gln319Pro)
|
rs2545253114
|
|
|
NM_001927.4(DES):c.962T>A (p.Met321Lys)
|
rs760197212
|
|
|
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
|
rs781970601
|
|
|
NM_001939.3(DRP2):c.1192A>G (p.Ile398Val)
|
rs1331247259
|
|
|
NM_001939.3(DRP2):c.554G>A (p.Ser185Asn)
|
rs745348781
|
|
|
NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)
|
rs1555143796
|
|
|
NM_001940.4(ATN1):c.2090T>C (p.Leu697Pro)
|
rs2542629756
|
|
|
NM_001940.4(ATN1):c.710G>A (p.Gly237Glu)
|
rs782605849
|
|
|
NM_001942.4(DSG1):c.1862C>G (p.Ala621Gly)
|
rs1402549412
|
|
|
NM_001958.5(EEF1A2):c.1005G>T (p.Gln335His)
|
rs2145939974
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>T
|
rs111392970
|
|
|
NM_001958.5(EEF1A2):c.733C>T (p.Pro245Ser)
|
rs2516781241
|
|
|
NM_001958.5(EEF1A2):c.802G>A (p.Glu268Lys)
|
rs2516775516
|
|
|
NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp)
|
rs765463392
|
|
|
NM_001972.4(ELANE):c.254G>T (p.Gly85Val)
|
rs2145145006
|
|
|
NM_001972.4(ELANE):c.597C>G (p.Phe199Leu)
|
rs531021237
|
|
|
NM_001982.4(ERBB3):c.1540_1543delinsATCA (p.Pro514_Gly515delinsIleSer)
|
rs2540756517
|
|
|
NM_001982.4(ERBB3):c.3679G>A (p.Val1227Met)
|
rs2540766602
|
|
|
NM_001982.4(ERBB3):c.3799C>T (p.Arg1267Ter)
|
rs745487835
|
|
|
NM_001987.5(ETV6):c.439A>T (p.Ile147Leu)
|
rs762610106
|
|
|
NM_001999.4(FBN2):c.1754T>C (p.Leu585Pro)
|
rs1752122374
|
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
|
NM_001999.4(FBN2):c.2231del (p.Cys744fs)
|
rs2479361929
|
|
|
NM_001999.4(FBN2):c.2248+9A>T
|
rs2479361763
|
|
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
|
|
NM_001999.4(FBN2):c.3599-1G>A
|
rs2479803861
|
|
|
NM_001999.4(FBN2):c.4134C>A (p.Cys1378Ter)
|
rs775405425
|
|
|
NM_001999.4(FBN2):c.6253C>T (p.Pro2085Ser)
|
rs34845843
|
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
|
NM_002016.2(FLG):c.3280C>A (p.Pro1094Thr)
|
rs1431321161
|
|
|
NM_002018.4(FLII):c.1954C>T (p.Arg652Ter)
|
rs762815739
|
|
|
NM_002024.6(FMR1):c.1126-2A>T
|
rs1557180015
|
|
|
NM_002024.6(FMR1):c.1832G>T (p.Arg611Leu)
|
rs782715138
|
|
|
NM_002025.4(AFF2):c.1292G>A (p.Ser431Asn)
|
rs1263637204
|
|
|
NM_002025.4(AFF2):c.2637G>T (p.Leu879Phe)
|
rs2521902456
|
|
|
NM_002025.4(AFF2):c.2820C>A (p.Asp940Glu)
|
rs1459365033
|
|
|
NM_002025.4(AFF2):c.3017T>C (p.Val1006Ala)
|
rs2521931372
|
|
|
NM_002025.4(AFF2):c.3074C>T (p.Thr1025Ile)
|
rs2521931916
|
|
|
NM_002025.4(AFF2):c.511G>T (p.Ala171Ser)
|
rs781897582
|
|
|
NM_002043.5(GABRR2):c.322T>C (p.Trp108Arg)
|
rs2533758313
|
|
|
NM_002043.5(GABRR2):c.568C>T (p.Gln190Ter)
|
rs775707496
|
|
|
NM_002047.4(GARS1):c.1524T>G (p.Tyr508Ter)
|
rs2534321436
|
|
|
NM_002047.4(GARS1):c.166G>A (p.Asp56Asn)
|
rs1403668479
|
|
|
NM_002047.4(GARS1):c.181G>C (p.Glu61Gln)
|
rs1211728117
|
|
|
NM_002047.4(GARS1):c.662A>G (p.His221Arg)
|
rs1279978899
|
|
|
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn)
|
rs775140242
|
|
|
NM_002047.4(GARS1):c.76del (p.Ala26fs)
|
rs2534280550
|
|
|
NM_002049.4(GATA1):c.1019del (p.Gly340fs)
|
rs2519346621
|
|
|
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg)
|
rs2147307619
|
|
|
NM_002049.4(GATA1):c.205_220+8del
|
rs2519343888
|
|
|
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
|
rs2519344834
|
|
|
NM_002049.4(GATA1):c.595T>A (p.Cys199Ser)
|
rs782750237
|
|
|
NM_002049.4(GATA1):c.685G>A (p.Gly229Ser)
|
rs1557020321
|
|
|
NM_002049.4(GATA1):c.890T>C (p.Met297Thr)
|
rs2147307504
|
|
|
NM_002055.5(GFAP):c.625C>G (p.Arg209Gly)
|
rs146725018
|
|
|
NM_002055.5(GFAP):c.719C>T (p.Thr240Met)
|
rs777180711
|
|
|
NM_002069.6(GNAI1):c.1059_1063del (p.Phe354fs)
|
rs2484470621
|
|
|
NM_002072.5(GNAQ):c.735+30A>G
|
rs1826626515
|
|
|
NM_002074.5(GNB1):c.955G>C (p.Gly319Arg)
|
rs2522095188
|
|
|
NM_002101.5(GYPC):c.109C>A (p.Pro37Thr)
|
rs2467357134
|
|
|
NM_002101.5(GYPC):c.134C>G (p.Pro45Arg)
|
rs139780142
|
|
|
NM_002101.5(GYPC):c.194T>C (p.Val65Ala)
|
rs762904499
|
|
|
NM_002101.5(GYPC):c.257G>T (p.Arg86Leu)
|
rs139816143
|
|
|
NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr)
|
rs1758384765
|
|
|
NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del)
|
rs776731510
|
|
|
NM_002137.4(HNRNPA2B1):c.980_986del (p.Gly327fs)
|
rs1783016641
|
|
|
NM_002148.4(HOXD10):c.341G>T (p.Cys114Phe)
|
rs765304262
|
|
|
NM_002156.5(HSPD1):c.623A>C (p.Asn208Thr)
|
rs1205193922
|
|
|
NM_002156.5(HSPD1):c.95T>G (p.Phe32Cys)
|
rs757619883
|
|
|
NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)
|
rs2539120543
|
|
|
NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)
|
rs1829040148
|
|
|
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=)
|
rs147477786
|
|
|
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala)
|
rs7122089
|
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
|
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met)
|
rs573382473
|
|
|
NM_002180.3(IGHMBP2):c.1841C>T (p.Ser614Phe)
|
rs1206885388
|
|
|
NM_002180.3(IGHMBP2):c.2354G>A (p.Arg785Lys)
|
rs766615389
|
|
|
NM_002180.3(IGHMBP2):c.2719A>T (p.Thr907Ser)
|
rs1859630032
|
|
|
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230
|
|
|
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
|
rs145945230
|
|
|
NM_002180.3(IGHMBP2):c.305C>T (p.Ala102Val)
|
rs763391719
|
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
|
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala)
|
rs1858726463
|
|
|
NM_002181.4(IHH):c.472C>T (p.Arg158Cys)
|
rs2469514264
|
|
|
NM_002181.4(IHH):c.577+2T>C
|
rs2469513980
|
|
|
NM_002181.4(IHH):c.799C>T (p.Arg267Cys)
|
rs748379688
|
|
|
NM_002184.4(IL6ST):c.1094A>G (p.Asp365Gly)
|
rs768985381
|
|
|
NM_002185.5(IL7R):c.867del (p.Lys289fs)
|
rs2531580369
|
|
|
NM_002204.4(ITGA3):c.2995G>A (p.Val999Met)
|
rs771635263
|
|
|
NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)
|
rs1476977532
|
|
|
NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)
|
rs1873159118
|
|
|
NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)
|
rs766429574
|
|
|
NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)
|
rs2539795415
|
|
|
NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)
|
rs753481574
|
|
|
NM_002206.3(ITGA7):c.1568C>G (p.Ala523Gly)
|
rs773665634
|
|
|
NM_002206.3(ITGA7):c.1588G>T (p.Ala530Ser)
|
rs1872768511
|
|
|
NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)
|
rs2539776571
|
|
|
NM_002206.3(ITGA7):c.1601G>A (p.Arg534Gln)
|
rs774516318
|
|
|
NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)
|
rs145147670
|
|
|
NM_002206.3(ITGA7):c.1A>G (p.Met1Val)
|
rs370246460
|
|
|
NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)
|
rs2539733055
|
|
|
NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser)
|
rs550342721
|
|
|
NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro)
|
rs1387658204
|
|
|
NM_002206.3(ITGA7):c.2861C>T (p.Thr954Met)
|
rs142361411
|
|
|
NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)
|
rs1386710279
|
|
|
NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)
|
|
|
|
NM_002206.3(ITGA7):c.3010G>A (p.Val1004Met)
|
rs776269261
|
|
|
NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly)
|
rs1239418668
|
|
|
NM_002206.3(ITGA7):c.3373G>A (p.Glu1125Lys)
|
rs371203166
|
|
|
NM_002206.3(ITGA7):c.380G>C (p.Ser127Thr)
|
rs1223303930
|
|
|
NM_002206.3(ITGA7):c.467C>A (p.Thr156Lys)
|
rs375671999
|
|
|
NM_002206.3(ITGA7):c.668A>G (p.Lys223Arg)
|
rs1263731616
|
|
|
NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)
|
rs756511433
|
|
|
NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)
|
rs201994133
|
|
|
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
|
rs1432716785
|
|
|
NM_002227.4(JAK1):c.1567A>C (p.Met523Leu)
|
rs759154184
|
|
|
NM_002227.4(JAK1):c.410G>T (p.Gly137Val)
|
rs1657196252
|
|
|
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn)
|
rs1597808088
|
|
|
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del)
|
rs144879674
|
|
|
NM_002249.6(KCNN3):c.2059C>T (p.Gln687Ter)
|
rs2526969823
|
|
|
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)
|
rs1969515944
|
|
|
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)
|
rs200491983
|
|
|
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)
|
rs2513975427
|
|
|
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)
|
rs2513971967
|
|
|
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)
|
rs1969657994
|
|
|
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)
|
rs1200218524
|
|
|
NM_002281.4(KRT81):c.2T>G (p.Met1Arg)
|
rs745959240
|
|
|
NM_002282.3(KRT83):c.844G>C (p.Glu282Gln)
|
rs376193228
|
|
|
NM_002291.3(LAMB1):c.234A>G (p.Ile78Met)
|
rs529426937
|
|
|
NM_002291.3(LAMB1):c.4290T>G (p.Cys1430Trp)
|
rs2535391547
|
|
|
NM_002291.3(LAMB1):c.4519A>T (p.Ile1507Phe)
|
rs140213228
|
|
|
NM_002291.3(LAMB1):c.4540G>A (p.Asp1514Asn)
|
rs2032657837
|
|
|
NM_002291.3(LAMB1):c.785T>G (p.Val262Gly)
|
rs775247287
|
|
|
NM_002292.4(LAMB2):c.1087T>C (p.Tyr363His)
|
rs2472553730
|
|
|
NM_002292.4(LAMB2):c.1390C>T (p.Arg464Cys)
|
rs555820356
|
|
|
NM_002292.4(LAMB2):c.5390G>T (p.Cys1797Phe)
|
rs2472492836
|
|
|
NM_002292.4(LAMB2):c.5394del (p.Gln1798fs)
|
rs2472492757
|
|
|
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys)
|
rs2147294900
|
|
|
NM_002294.3(LAMP2):c.449T>A (p.Leu150His)
|
rs950013593
|
|
|
NM_002294.3(LAMP2):c.937A>C (p.Ile313Leu)
|
rs1315624011
|
|
|
NM_002296.4(LBR):c.916T>C (p.Ser306Pro)
|
rs2527798907
|
|
|
NM_002332.3(LRP1):c.7896C>A (p.Asp2632Glu)
|
rs149099223
|
|
|
NM_002334.4(LRP4):c.2725G>C (p.Ala909Pro)
|
rs2539742291
|
|
|
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly)
|
rs202151304
|
|
|
NM_002334.4(LRP4):c.923-8CT[2]
|
rs2539770646
|
|
|
NM_002335.4(LRP5):c.2828C>T (p.Pro943Leu)
|
rs773251794
|
|
|
NM_002335.4(LRP5):c.351G>T (p.Trp117Cys)
|
rs2496384381
|
|
|
NM_002335.4(LRP5):c.3854A>G (p.Glu1285Gly)
|
rs2496873869
|
|
|
NM_002373.6(MAP1A):c.1700G>C (p.Gly567Ala)
|
rs2079326926
|
|
|
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
|
rs753002290
|
|
|
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
|
rs796052728
|
|
|
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
|
rs2547084117
|
|
|
NM_002427.4(MMP13):c.151A>G (p.Asn51Asp)
|
rs2496470371
|
|
|
NM_002430.3(MN1):c.1837G>C (p.Gly613Arg)
|
rs1214809970
|
|
|
NM_002430.3(MN1):c.2058G>T (p.Met686Ile)
|
rs565227821
|
|
|
NM_002430.3(MN1):c.2306C>T (p.Ala769Val)
|
rs764493322
|
|
|
NM_002430.3(MN1):c.3077G>A (p.Gly1026Glu)
|
rs1464999399
|
|
|
NM_002430.3(MN1):c.889_891delinsACCCAG (p.Pro297delinsThrGln)
|
rs2517773695
|
|
|
NM_002435.3(MPI):c.995A>T (p.Asp332Val)
|
rs2505829354
|
|
|
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
|
rs2465683495
|
|
|
NM_002437.5(MPV17):c.1A>G (p.Met1Val)
|
rs553716559
|
|
|
NM_002444.3(MSN):c.1099G>A (p.Glu367Lys)
|
rs2071686521
|
|
|
NM_002449.5(MSX2):c.645G>A (p.Met215Ile)
|
rs1297854733
|
|
|
NM_002449.5(MSX2):c.745A>C (p.Ile249Leu)
|
rs1760880294
|
|
|
NM_002465.4(MYBPC1):c.1138T>G (p.Cys380Gly)
|
rs754720391
|
|
|
NM_002465.4(MYBPC1):c.154C>T (p.Arg52Trp)
|
rs749391400
|
|
|
NM_002465.4(MYBPC1):c.155G>A (p.Arg52Gln)
|
rs373356488
|
|
|
NM_002465.4(MYBPC1):c.3433+5G>A
|
rs1747088792
|
|
|
NM_002465.4(MYBPC1):c.3514T>G (p.Ter1172Gly)
|
rs2547881758
|
|
|
NM_002465.4(MYBPC1):c.377delinsGG (p.Asp126fs)
|
rs2547477545
|
|
|
NM_002465.4(MYBPC1):c.611G>C (p.Gly204Ala)
|
rs2547513846
|
|
|
NM_002465.4(MYBPC1):c.787C>T (p.Leu263Phe)
|
rs2547560623
|
|
|
NM_002465.4(MYBPC1):c.831_832delinsCC (p.Ala278Pro)
|
rs2547561426
|
|
|
NM_002469.3(MYF6):c.668T>C (p.Val223Ala)
|
rs2541756600
|
|
|
NM_002470.4(MYH3):c.2535G>C (p.Glu845Asp)
|
rs2508601128
|
|
|
NM_002470.4(MYH3):c.3543G>A (p.Glu1181=)
|
rs371236845
|
|
|
NM_002470.4(MYH3):c.3745del (p.Ile1249fs)
|
rs749037948
|
|
|
NM_002471.4(MYH6):c.1132G>C (p.Gly378Arg)
|
rs148962966
|
|
|
NM_002471.4(MYH6):c.1227C>A (p.Asn409Lys)
|
rs752919716
|
|
|
NM_002471.4(MYH6):c.1258C>T (p.Gln420Ter)
|
rs773659892
|
|
|
NM_002471.4(MYH6):c.1840_1841delinsGT (p.Ser614Val)
|
rs1891507309
|
|
|
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe)
|
rs764362016
|
|
|
NM_002471.4(MYH6):c.324C>A (p.Arg108=)
|
rs1891763616
|
|
|
NM_002471.4(MYH6):c.3508G>C (p.Glu1170Gln)
|
rs727503236
|
|
|
NM_002471.4(MYH6):c.4574_4575del (p.Val1525fs)
|
rs2502147465
|
|
|
NM_002471.4(MYH6):c.4856A>G (p.Lys1619Arg)
|
rs2502143458
|
|
|
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)
|
rs767251436
|
|
|
NM_002471.4(MYH6):c.5437C>G (p.Gln1813Glu)
|
rs368384248
|
|
|
NM_002471.4(MYH6):c.90del (p.Phe31fs)
|
rs2502212956
|
|
|
NM_002472.3(MYH8):c.3803A>T (p.Glu1268Val)
|
rs2072115603
|
|
|
NM_002472.3(MYH8):c.3860C>T (p.Ala1287Val)
|
rs1268282594
|
|
|
NM_002472.3(MYH8):c.3980A>C (p.Lys1327Thr)
|
rs2508033257
|
|
|
NM_002473.6(MYH9):c.2803C>G (p.Gln935Glu)
|
rs2517970380
|
|
|
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)
|
rs267606902
|
|
|
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val)
|
rs142128375
|
|
|
NM_002474.3(MYH11):c.3089A>G (p.Asn1030Ser)
|
rs1207278935
|
|
|
NM_002474.3(MYH11):c.3130A>C (p.Lys1044Gln)
|
rs2506186806
|
|
|
NM_002474.3(MYH11):c.3245A>C (p.Lys1082Thr)
|
rs2041154290
|
|
|
NM_002474.3(MYH11):c.3643T>C (p.Phe1215Leu)
|
rs2040997688
|
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
|
NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu)
|
|
|
|
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
|
rs919030976
|
|
|
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser)
|
rs2040340393
|
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1])
|
rs777249764
|
|
|
NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn)
|
rs375743675
|
|
|
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)
|
rs772155686
|
|
|
NM_002485.5(NBN):c.113A>T (p.Asp38Val)
|
rs2129925061
|
|
|
NM_002485.5(NBN):c.1147_1149del (p.Glu383del)
|
rs2488245612
|
|
|
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)
|
rs762174459
|
|
|
NM_002485.5(NBN):c.585-3C>T
|
rs779430868
|
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
|
NM_002487.3(NDN):c.15T>G (p.Ser5Arg)
|
rs772639947
|
|
|
NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)
|
rs1235620751
|
|
|
NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)
|
rs372851104
|
|
|
NM_002516.4(NOVA2):c.681_682insAGC (p.Thr227_Gly228insSer)
|
rs2513852731
|
|
|
NM_002524.5(NRAS):c.*2178G>A
|
rs886045103
|
|
|
NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr)
|
rs2150946813
|
|
|
NM_002541.4(OGDH):c.2761A>G (p.Met921Val)
|
rs2485010857
|
|
|
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
|
rs2077495637
|
|
|
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
|
rs2519631601
|
|
|
NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)
|
rs2519930343
|
|
|
NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)
|
rs2519907603
|
|
|
NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)
|
rs2519799473
|
|
|
NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)
|
rs1254574532
|
|
|
NM_002576.5(PAK1):c.969G>T (p.Lys323Asn)
|
rs2540106628
|
|
|
NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp)
|
rs1249190198
|
|
|
NM_002578.5(PAK3):c.1216T>C (p.Phe406Leu)
|
rs2524222560
|
|
|
NM_002578.5(PAK3):c.233A>G (p.His78Arg)
|
rs2523367910
|
|
|
NM_002578.5(PAK3):c.490C>T (p.Pro164Ser)
|
rs866361777
|
|
|
NM_002578.5(PAK3):c.534AGA[4] (p.Glu182del)
|
rs749370794
|
|
|
NM_002582.4(PARN):c.659A>C (p.Lys220Thr)
|
rs2508334624
|
|
|
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp)
|
rs1218945005
|
|
|
NM_002585.4(PBX1):c.865A>C (p.Ile289Leu)
|
rs2526881926
|
|
|
NM_002609.4(PDGFRB):c.2549A>G (p.Asp850Gly)
|
rs1060499540
|
|
|
NM_002615.7(SERPINF1):c.-37C>A
|
rs1039127862
|
|
|
NM_002616.3(PER1):c.1450A>T (p.Thr484Ser)
|
rs754634878
|
|
|
NM_002617.4(PEX10):c.621C>T (p.Pro207=)
|
rs140107510
|
|
|
NM_002618.4(PEX13):c.32C>A (p.Pro11His)
|
rs564528921
|
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
|
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln)
|
rs777179456
|
|
|
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
|
rs782419770
|
|
|
NM_002641.4(PIGA):c.1332G>T (p.Trp444Cys)
|
rs2519321689
|
|
|
NM_002641.4(PIGA):c.981+3A>G
|
rs2519325069
|
|
|
NM_002647.4(PIK3C3):c.1170+3G>A
|
rs770473277
|
|
|
NM_002647.4(PIK3C3):c.1969-1G>A
|
rs2511126450
|
|
|
NM_002661.5(PLCG2):c.1378C>T (p.Pro460Ser)
|
rs2507657647
|
|
|
NM_002661.5(PLCG2):c.1934+1G>A
|
rs2143658084
|
|
|
NM_002661.5(PLCG2):c.3755G>A (p.Arg1252Lys)
|
rs748492148
|
|
|
NM_002662.5(PLD1):c.280A>G (p.Thr94Ala)
|
rs780724576
|
|
|
NM_002663.5(PLD2):c.2026_2027insAA (p.Arg676fs)
|
rs2507583104
|
|
|
NM_002666.5(PLIN1):c.1280A>G (p.Glu427Gly)
|
rs1003587869
|
|
|
NM_002691.4(POLD1):c.1854C>G (p.Tyr618Ter)
|
rs2122369032
|
|
|
NM_002693.3(POLG):c.101A>G (p.Asp34Gly)
|
rs779409525
|
|
|
NM_002693.3(POLG):c.1146G>C (p.Met382Ile)
|
rs2509261134
|
|
|
NM_002693.3(POLG):c.1251-5C>T
|
rs199621975
|
|
|
NM_002693.3(POLG):c.1343C>T (p.Ala448Val)
|
rs2509256191
|
|
|
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)
|
rs760135553
|
|
|
NM_002693.3(POLG):c.1798C>T (p.Pro600Ser)
|
rs759840237
|
|
|
NM_002693.3(POLG):c.1838A>T (p.His613Leu)
|
rs2509248877
|
|
|
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln)
|
rs200309005
|
|
|
NM_002693.3(POLG):c.2954T>C (p.Met985Thr)
|
rs2509216628
|
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
|
NM_002693.3(POLG):c.3701dup (p.Ser1235fs)
|
rs1314985986
|
|
|
NM_002693.3(POLG):c.680G>A (p.Arg227Gln)
|
rs1462699597
|
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
|
NM_002715.4(PPP2CA):c.389A>T (p.Tyr130Phe)
|
rs2481051354
|
|
|
NM_002730.4(PRKACA):c.627G>T (p.Glu209Asp)
|
rs780953754
|
|
|
NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)
|
rs776034417
|
|
|
NM_002742.3(PRKD1):c.345G>C (p.Gln115His)
|
rs765346110
|
|
|
NM_002764.4(PRPS1):c.118A>G (p.Thr40Ala)
|
rs2521317938
|
|
|
NM_002764.4(PRPS1):c.292G>A (p.Asp98Asn)
|
rs2521336818
|
|
|
NM_002772.3(TMPRSS15):c.1170A>C (p.Ser390=)
|
rs2075584665
|
|
|
NM_002775.5(HTRA1):c.1348G>C (p.Asp450His)
|
rs772225907
|
|
|
NM_002775.5(HTRA1):c.1408A>G (p.Met470Val)
|
rs750089026
|
|
|
NM_002775.5(HTRA1):c.430C>T (p.Arg144Trp)
|
rs779980320
|
|
|
NM_002775.5(HTRA1):c.989G>A (p.Gly330Asp)
|
rs2497649669
|
|
|
NM_002778.4(PSAP):c.777_778insTGT (p.Met259_Gln260insCys)
|
rs2494516617
|
|
|
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)
|
rs2058255607
|
|
|
NM_002816.5(PSMD12):c.1164_1166delinsTTT (p.Glu388_Ser389delinsAspPhe)
|
rs2509678235
|
|
|
NM_002816.5(PSMD12):c.1342A>G (p.Lys448Glu)
|
rs2509677961
|
|
|
NM_002830.4(PTPN4):c.2748del (p.Phe916fs)
|
rs1679628034
|
|
|
NM_002834.5(PTPN11):c.1165A>C (p.Lys389Gln)
|
rs2540457080
|
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
|
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
|
rs2525316486
|
|
|
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
|
rs2525312949
|
|
|
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)
|
rs1346763871
|
|
|
NM_002860.4(ALDH18A1):c.1501T>G (p.Leu501Val)
|
rs2097844639
|
|
|
NM_002860.4(ALDH18A1):c.1946A>T (p.Lys649Ile)
|
rs145197911
|
|
|
NM_002860.4(ALDH18A1):c.631C>T (p.Leu211Phe)
|
rs2139609938
|
|
|
NM_002860.4(ALDH18A1):c.650C>G (p.Pro217Arg)
|
rs267602647
|
|
|
NM_002860.4(ALDH18A1):c.872A>T (p.Asp291Val)
|
rs2097863375
|
|
|
NM_002861.5(PCYT2):c.175G>T (p.Asp59Tyr)
|
rs752074029
|
|
|
NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)
|
rs998126774
|
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
|
NM_002878.4(RAD51D):c.929A>C (p.Asp310Ala)
|
rs886052818
|
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
|
NM_002880.4(RAF1):c.950A>G (p.Glu317Gly)
|
rs2470303858
|
|
|
NM_002887.4(RARS1):c.1535G>T (p.Arg512Leu)
|
rs369398935
|
|
|
NM_002887.4(RARS1):c.847G>A (p.Glu283Lys)
|
rs2533375558
|
|
|
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)
|
rs1580178676
|
|
|
NM_002890.3(RASA1):c.2119C>T (p.Arg707Cys)
|
rs2531347778
|
|
|
NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)
|
|
|
|
NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)
|
rs2531360197
|
|
|
NM_002890.3(RASA1):c.3070A>C (p.Lys1024Gln)
|
rs1281065494
|
|
|
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)
|
rs1554051094
|
|
|
NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)
|
rs782505300
|
|
|
NM_002905.5(RDH5):c.952dup (p.Tyr318fs)
|
rs2540177267
|
|
|
NM_002941.4(ROBO1):c.384T>A (p.Phe128Leu)
|
rs2546355373
|
|
|
NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)
|
rs754846300
|
|
|
NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)
|
rs766210751
|
|
|
NM_002971.6(SATB1):c.2218C>A (p.Leu740Ile)
|
rs1329953084
|
|
|
NM_002972.4(SBF1):c.431T>A (p.Val144Glu)
|
rs1603434310
|
|
|
NM_002976.4(SCN7A):c.253A>T (p.Lys85Ter)
|
rs2468697477
|
|
|
NM_002976.4(SCN7A):c.560dup (p.Thr188fs)
|
rs2468687481
|
|
|
NM_003000.3(SDHB):c.254C>G (p.Ser85Cys)
|
rs1454196953
|
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
rs2102385649
|
|
|
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys)
|
rs1555186687
|
|
|
NM_003011.4(SET):c.787G>A (p.Asp263Asn)
|
rs2490441225
|
|
|
NM_003024.3(ITSN1):c.908A>G (p.Tyr303Cys)
|
rs2517320170
|
|
|
NM_003031.4(SIAH1):c.-2-2954A>G
|
rs2544519651
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
|
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)
|
rs1303337266
|
|
|
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
|
rs1057520161
|
|
|
NM_003036.4(SKI):c.164C>T (p.Ala55Val)
|
rs2527576012
|
|
|
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)
|
rs2521511133
|
|
|
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)
|
rs1553189801
|
|
|
NM_003038.5(SLC1A4):c.1040C>A (p.Ala347Glu)
|
rs1429785570
|
|
|
NM_003038.5(SLC1A4):c.172_193del (p.Leu58fs)
|
rs2528509856
|
|
|
NM_003039.3(SLC2A5):c.648C>A (p.Ser216Arg)
|
rs906629444
|
|
|
NM_003041.4(SLC5A2):c.1373C>T (p.Ala458Val)
|
rs757410874
|
|
|
NM_003042.4(SLC6A1):c.1230T>A (p.Asp410Glu)
|
rs2470239820
|
|
|
NM_003042.4(SLC6A1):c.144G>C (p.Lys48Asn)
|
rs751216831
|
|
|
NM_003042.4(SLC6A1):c.1528G>C (p.Gly510Arg)
|
rs2124944413
|
|
|
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
|
rs2470263696
|
|
|
NM_003042.4(SLC6A1):c.310C>G (p.Leu104Val)
|
rs2470191883
|
|
|
NM_003042.4(SLC6A1):c.322A>G (p.Thr108Ala)
|
rs1574892400
|
|
|
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)
|
rs146894194
|
|
|
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
|
rs2523151453
|
|
|
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)
|
rs370983881
|
|
|
NM_003054.6(SLC18A2):c.590C>T (p.Ser197Phe)
|
rs2493539476
|
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
|
NM_003060.4(SLC22A5):c.706T>A (p.Cys236Ser)
|
rs747050292
|
|
|
NM_003070.5(SMARCA2):c.1018G>T (p.Val340Leu)
|
rs760227940
|
|
|
NM_003070.5(SMARCA2):c.1488G>C (p.Glu496Asp)
|
rs761327709
|
|
|
NM_003070.5(SMARCA2):c.1804A>G (p.Thr602Ala)
|
rs2537309940
|
|
|
NM_003070.5(SMARCA2):c.248A>C (p.Lys83Thr)
|
rs2537203134
|
|
|
NM_003070.5(SMARCA2):c.3134T>C (p.Leu1045Pro)
|
rs2537379487
|
|
|
NM_003070.5(SMARCA2):c.3368T>G (p.Leu1123Trp)
|
rs2537391903
|
|
|
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr)
|
rs909061146
|
|
|
NM_003070.5(SMARCA2):c.4148T>C (p.Leu1383Pro)
|
rs2537507960
|
|
|
NM_003070.5(SMARCA2):c.4199+8_4199+9delinsAG
|
rs2537508347
|
|
|
NM_003070.5(SMARCA2):c.4281_4296dup (p.Arg1433fs)
|
rs2537584687
|
|
|
NM_003070.5(SMARCA2):c.4548_4556dup (p.Glu1518_Glu1519insAspAsnGlu)
|
rs2537611797
|
|
|
NM_003070.5(SMARCA2):c.463G>T (p.Ala155Ser)
|
rs760635852
|
|
|
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.751C>A (p.Gln251Lys)
|
rs1819525635
|
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
|
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)
|
rs1060502060
|
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
|
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser)
|
rs763872301
|
|
|
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser)
|
rs2146009925
|
|
|
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu)
|
rs762676176
|
|
|
NM_003074.4(SMARCC1):c.3059del (p.Pro1020fs)
|
rs2546669976
|
|
|
NM_003074.4(SMARCC1):c.3224C>A (p.Pro1075His)
|
rs3772406
|
|
|
NM_003076.5(SMARCD1):c.253C>T (p.Pro85Ser)
|
rs771531874
|
|
|
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)
|
rs1597749796
|
|
|
NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)
|
rs2508597348
|
|
|
NM_003098.3(SNTA1):c.910-3C>T
|
rs1989763108
|
|
|
NM_003104.6(SORD):c.287C>T (p.Pro96Leu)
|
rs780258473
|
|
|
NM_003106.4(SOX2):c.81GGC[4] (p.Ala30_Gly31insAla)
|
rs2473717032
|
|
|
NM_003107.3(SOX4):c.618_626del (p.204AGG[1])
|
rs1355011275
|
|
|
NM_003108.4(SOX11):c.1153G>T (p.Ala385Ser)
|
rs2103277224
|
|
|
NM_003108.4(SOX11):c.400G>T (p.Ala134Ser)
|
rs749358189
|
|
|
NM_003114.5(SPAG1):c.752C>G (p.Ala251Gly)
|
rs2489331257
|
|
|
NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)
|
rs1255208087
|
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
|
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
|
rs2543766805
|
|
|
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
|
rs138457270
|
|
|
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
|
rs759489240
|
|
|
NM_003119.4(SPG7):c.619-3C>G
|
rs199740629
|
|
|
NM_003124.5(SPR):c.307T>C (p.Ser103Pro)
|
rs967985144
|
|
|
NM_003126.4(SPTA1):c.-58CT[6]
|
rs111674514
|
|
|
NM_003126.4(SPTA1):c.1151G>C (p.Gly384Ala)
|
rs2525296318
|
|
|
NM_003126.4(SPTA1):c.1168A>C (p.Thr390Pro)
|
rs2525296149
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
|
NM_003126.4(SPTA1):c.1250A>G (p.His417Arg)
|
rs2525293794
|
|
|
NM_003126.4(SPTA1):c.1290T>G (p.Asp430Glu)
|
rs2525293229
|
|
|
NM_003126.4(SPTA1):c.1403G>C (p.Arg468Pro)
|
rs372937123
|
|
|
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro)
|
rs200829664
|
|
|
NM_003126.4(SPTA1):c.1723C>T (p.Arg575Cys)
|
rs747469591
|
|
|
NM_003126.4(SPTA1):c.1773A>G (p.Ser591=)
|
rs2525252935
|
|
|
NM_003126.4(SPTA1):c.179G>C (p.Arg60Pro)
|
rs750863150
|
|
|
NM_003126.4(SPTA1):c.1A>T (p.Met1Leu)
|
rs1655190972
|
|
|
NM_003126.4(SPTA1):c.2001C>A (p.Ser667Arg)
|
rs758940312
|
|
|
NM_003126.4(SPTA1):c.2036A>C (p.Lys679Thr)
|
rs1214635907
|
|
|
NM_003126.4(SPTA1):c.2063A>G (p.Gln688Arg)
|
rs757767033
|
|
|
NM_003126.4(SPTA1):c.2119G>A (p.Glu707Lys)
|
rs1201333441
|
|
|
NM_003126.4(SPTA1):c.2146G>A (p.Gly716Arg)
|
rs1246806960
|
|
|
NM_003126.4(SPTA1):c.25-3C>G
|
rs2525391491
|
|
|
NM_003126.4(SPTA1):c.2525T>A (p.Ile842Asn)
|
rs771878529
|
|
|
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe)
|
rs111321033
|
|
|
NM_003126.4(SPTA1):c.2699A>G (p.Gln900Arg)
|
rs1161873167
|
|
|
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
|
rs2101877463
|
|
|
NM_003126.4(SPTA1):c.3317C>G (p.Thr1106Ser)
|
rs2525112856
|
|
|
NM_003126.4(SPTA1):c.3352A>G (p.Lys1118Glu)
|
rs994266055
|
|
|
NM_003126.4(SPTA1):c.3485A>C (p.Asn1162Thr)
|
rs2525092724
|
|
|
NM_003126.4(SPTA1):c.3529C>A (p.Gln1177Lys)
|
rs2525091990
|
|
|
NM_003126.4(SPTA1):c.3662T>C (p.Leu1221Pro)
|
rs992841030
|
|
|
NM_003126.4(SPTA1):c.370T>A (p.Ser124Thr)
|
rs1654947274
|
|
|
NM_003126.4(SPTA1):c.3710A>C (p.Asp1237Ala)
|
rs1224092272
|
|
|
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
|
rs772799574
|
|
|
NM_003126.4(SPTA1):c.409C>T (p.Arg137Cys)
|
rs772799574
|
|
|
NM_003126.4(SPTA1):c.410G>A (p.Arg137His)
|
rs200716254
|
|
|
NM_003126.4(SPTA1):c.4520G>A (p.Arg1507Gln)
|
rs764436700
|
|
|
NM_003126.4(SPTA1):c.4702_4703inv (p.Cys1568His)
|
|
|
|
NM_003126.4(SPTA1):c.4757A>C (p.Lys1586Thr)
|
rs2526421636
|
|
|
NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser)
|
rs145288947
|
|
|
NM_003126.4(SPTA1):c.5180C>T (p.Ser1727Phe)
|
rs1348329649
|
|
|
NM_003126.4(SPTA1):c.5238G>T (p.Gln1746His)
|
rs1426868165
|
|
|
NM_003126.4(SPTA1):c.5270G>T (p.Arg1757Leu)
|
rs779823270
|
|
|
NM_003126.4(SPTA1):c.5285T>G (p.Leu1762Arg)
|
rs1276392123
|
|
|
NM_003126.4(SPTA1):c.5287G>A (p.Val1763Met)
|
rs764095440
|
|
|
NM_003126.4(SPTA1):c.5297_5302dup (p.Pro1767_Ala1768insGluPro)
|
rs775920355
|
|
|
NM_003126.4(SPTA1):c.534G>A (p.Glu178=)
|
rs2525349418
|
|
|
NM_003126.4(SPTA1):c.5989T>C (p.Ser1997Pro)
|
rs1650027547
|
|
|
NM_003126.4(SPTA1):c.6004C>A (p.Gln2002Lys)
|
rs2526245679
|
|
|
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His)
|
rs199993378
|
|
|
NM_003126.4(SPTA1):c.6107T>G (p.Leu2036Arg)
|
rs1650013195
|
|
|
NM_003126.4(SPTA1):c.6236G>A (p.Arg2079Gln)
|
rs754206036
|
|
|
NM_003126.4(SPTA1):c.6272C>T (p.Ser2091Phe)
|
rs1649824747
|
|
|
NM_003126.4(SPTA1):c.6341T>A (p.Val2114Glu)
|
rs2526221373
|
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
|
NM_003126.4(SPTA1):c.6600+4del
|
rs2526200976
|
|
|
NM_003126.4(SPTA1):c.6710G>A (p.Gly2237Glu)
|
rs938417743
|
|
|
NM_003126.4(SPTA1):c.678+7T>C
|
rs1654731473
|
|
|
NM_003126.4(SPTA1):c.6842+5del
|
rs2526175900
|
|
|
NM_003126.4(SPTA1):c.7016A>G (p.Tyr2339Cys)
|
rs2526166186
|
|
|
NM_003126.4(SPTA1):c.7071A>G (p.Ile2357Met)
|
rs1649346710
|
|
|
NM_003126.4(SPTA1):c.7091T>C (p.Leu2364Pro)
|
rs2526165145
|
|
|
NM_003126.4(SPTA1):c.7094_7095inv (p.Ala2365Val)
|
|
|
|
NM_003126.4(SPTA1):c.7119AGA[1] (p.Glu2374del)
|
rs1649341758
|
|
|
NM_003126.4(SPTA1):c.7250T>C (p.Phe2417Ser)
|
rs1229076536
|
|
|
NM_003126.4(SPTA1):c.7252_7258del (p.Gly2418fs)
|
rs746931020
|
|
|
NM_003126.4(SPTA1):c.92T>C (p.Val31Ala)
|
rs773826036
|
|
|
NM_003126.4(SPTA1):c.954C>A (p.Asp318Glu)
|
rs139325333
|
|
|
NM_003128.3(SPTBN1):c.2207G>T (p.Arg736Leu)
|
rs993769854
|
|
|
NM_003128.3(SPTBN1):c.2431C>T (p.Pro811Ser)
|
rs2549526829
|
|
|
NM_003128.3(SPTBN1):c.4970C>T (p.Ala1657Val)
|
rs2549559395
|
|
|
NM_003128.3(SPTBN1):c.6937G>A (p.Val2313Met)
|
rs2549587272
|
|
|
NM_003172.4(SURF1):c.324-11T>G
|
rs375398247
|
|
|
NM_003179.3(SYP):c.787G>A (p.Gly263Arg)
|
rs2520582594
|
|
|
NM_003184.4(TAF2):c.742T>G (p.Ser248Ala)
|
rs2488442934
|
|
|
NM_003193.5(TBCE):c.1078G>A (p.Ala360Thr)
|
rs1456103722
|
|
|
NM_003193.5(TBCE):c.1107C>A (p.Asn369Lys)
|
rs1398179707
|
|
|
NM_003193.5(TBCE):c.1189G>A (p.Gly397Ser)
|
rs1681633971
|
|
|
NM_003193.5(TBCE):c.700C>A (p.Leu234Ile)
|
rs2527028206
|
|
|
NM_003200.5(TCF3):c.437C>T (p.Thr146Ile)
|
rs2146271548
|
|
|
NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)
|
rs537283161
|
|
|
NM_003235.5(TG):c.2079C>G (p.Phe693Leu)
|
rs114115584
|
|
|
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
|
rs114772213
|
|
|
NM_003235.5(TG):c.4856C>T (p.Ser1619Phe)
|
rs759423976
|
|
|
NM_003235.5(TG):c.6444A>G (p.Gln2148=)
|
rs61740824
|
|
|
NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn)
|
rs2536840206
|
|
|
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys)
|
rs201444172
|
|
|
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)
|
|
|
|
NM_003238.6(TGFB2):c.101G>A (p.Arg34His)
|
rs1064796462
|
|
|
NM_003239.5(TGFB3):c.517-10T>C
|
rs375794497
|
|
|
NM_003240.5(LEFTY2):c.754G>A (p.Asp252Asn)
|
rs749235622
|
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
|
NM_003242.6(TGFBR2):c.1129del (p.His377fs)
|
rs2470563535
|
|
|
NM_003242.6(TGFBR2):c.1613T>C (p.Phe538Ser)
|
rs1699709599
|
|
|
NM_003260.5(TLE2):c.1585A>G (p.Ile529Val)
|
rs771464115
|
|
|
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu)
|
rs143020831
|
|
|
NM_003282.4(TNNI2):c.275_276+1del
|
rs781564068
|
|
|
NM_003283.6(TNNT1):c.139G>A (p.Val47Met)
|
rs1599884701
|
|
|
NM_003283.6(TNNT1):c.20_32+2dup
|
rs2515475364
|
|
|
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln)
|
rs2147254128
|
|
|
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp)
|
rs1041234929
|
|
|
NM_003289.4(TPM2):c.134C>A (p.Ala45Asp)
|
rs759069354
|
|
|
NM_003289.4(TPM2):c.170T>G (p.Val57Gly)
|
rs1825112307
|
|
|
NM_003289.4(TPM2):c.284T>G (p.Val95Gly)
|
rs2490684864
|
|
|
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro)
|
rs199476152
|
|
|
NM_003289.4(TPM2):c.581_585del (p.Glu194fs)
|
rs770601595
|
|
|
NM_003289.4(TPM2):c.660del (p.Lys220fs)
|
rs2490676703
|
|
|
NM_003289.4(TPM2):c.743A>T (p.Lys248Met)
|
rs2490675450
|
|
|
NM_003322.6(TULP1):c.1266C>T (p.Thr422=)
|
rs747534563
|
|
|
NM_003322.6(TULP1):c.1518C>A (p.Phe506Leu)
|
rs764536885
|
|
|
NM_003331.5(TYK2):c.1082C>T (p.Ala361Val)
|
rs373246540
|
|
|
NM_003331.5(TYK2):c.124C>G (p.Pro42Ala)
|
rs147251502
|
|
|
NM_003331.5(TYK2):c.2036G>C (p.Arg679Pro)
|
rs200247986
|
|
|
NM_003331.5(TYK2):c.2228C>T (p.Ala743Val)
|
rs1208124694
|
|
|
NM_003331.5(TYK2):c.789C>T (p.Leu263=)
|
rs761512367
|
|
|
NM_003334.4(UBA1):c.117C>T (p.Asn39=)
|
rs2521385601
|
|
|
NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)
|
rs1556790765
|
|
|
NM_003361.4(UMOD):c.208G>A (p.Ala70Thr)
|
rs756677160
|
|
|
NM_003361.4(UMOD):c.799T>C (p.Cys267Arg)
|
rs2507386075
|
|
|
NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)
|
rs2507387561
|
|
|
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)
|
rs2141926322
|
|
|
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
|
rs2488749538
|
|
|
NM_003384.3(VRK1):c.221C>A (p.Pro74His)
|
rs2504164482
|
|
|
NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg)
|
rs2471255964
|
|
|
NM_003403.5(YY1):c.166G>A (p.Gly56Ser)
|
rs1320953843
|
|
|
NM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del)
|
rs746323472
|
|
|
NM_003403.5(YY1):c.188G>A (p.Gly63Asp)
|
rs1890688651
|
|
|
NM_003418.5(CNBP):c.156C>A (p.Asp52Glu)
|
rs4303883
|
|
|
NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg)
|
rs2466832910
|
|
|
NM_003466.4(PAX8):c.754C>G (p.Pro252Ala)
|
rs768835143
|
|
|
NM_003476.5(CSRP3):c.397G>T (p.Val133Phe)
|
rs1415212138
|
|
|
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)
|
rs200189510
|
|
|
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
|
rs755241681
|
|
|
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
|
rs374254725
|
|
|
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
|
rs971439972
|
|
|
NM_003482.4(KMT2D):c.10824ACA[1] (p.Gln3612del)
|
rs775815605
|
|
|
NM_003482.4(KMT2D):c.11142G>C (p.Arg3714Ser)
|
rs1943062296
|
|
|
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del)
|
rs759803583
|
|
|
NM_003482.4(KMT2D):c.12481G>C (p.Glu4161Gln)
|
rs2498356700
|
|
|
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=)
|
rs905791071
|
|
|
NM_003482.4(KMT2D):c.12713G>T (p.Arg4238Leu)
|
rs769256800
|
|
|
NM_003482.4(KMT2D):c.13730C>T (p.Ala4577Val)
|
rs1210861185
|
|
|
NM_003482.4(KMT2D):c.1375T>A (p.Ser459Thr)
|
rs2120685007
|
|
|
NM_003482.4(KMT2D):c.13839+3C>A
|
rs1218915669
|
|
|
NM_003482.4(KMT2D):c.13964C>T (p.Ala4655Val)
|
rs575126048
|
|
|
NM_003482.4(KMT2D):c.13991C>T (p.Ala4664Val)
|
rs1942831869
|
|
|
NM_003482.4(KMT2D):c.14701C>A (p.Leu4901Met)
|
rs781467355
|
|
|
NM_003482.4(KMT2D):c.14734G>C (p.Glu4912Gln)
|
rs1445664162
|
|
|
NM_003482.4(KMT2D):c.14953G>A (p.Val4985Met)
|
rs1175086236
|
|
|
NM_003482.4(KMT2D):c.16321A>G (p.Lys5441Glu)
|
rs1393519900
|
|
|
NM_003482.4(KMT2D):c.2089C>T (p.Pro697Ser)
|
rs755350858
|
|
|
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu)
|
rs587783709
|
|
|
NM_003482.4(KMT2D):c.3343T>C (p.Phe1115Leu)
|
rs886042898
|
|
|
NM_003482.4(KMT2D):c.4049A>C (p.Lys1350Thr)
|
rs2498437156
|
|
|
NM_003482.4(KMT2D):c.4924G>A (p.Asp1642Asn)
|
rs2120587576
|
|
|
NM_003482.4(KMT2D):c.5528C>A (p.Thr1843Lys)
|
rs376180339
|
|
|
NM_003482.4(KMT2D):c.5826C>A (p.Asp1942Glu)
|
rs1247367110
|
|
|
NM_003482.4(KMT2D):c.5959C>T (p.Pro1987Ser)
|
rs2498407303
|
|
|
NM_003482.4(KMT2D):c.6745T>C (p.Cys2249Arg)
|
rs2120540230
|
|
|
NM_003482.4(KMT2D):c.7028C>A (p.Pro2343Gln)
|
rs764884530
|
|
|
NM_003482.4(KMT2D):c.7216G>A (p.Asp2406Asn)
|
rs1217331314
|
|
|
NM_003482.4(KMT2D):c.8131G>A (p.Ala2711Thr)
|
rs1482488651
|
|
|
NM_003482.4(KMT2D):c.8201G>A (p.Arg2734Gln)
|
rs974587965
|
|
|
NM_003482.4(KMT2D):c.8767G>T (p.Gly2923Cys)
|
rs988820724
|
|
|
NM_003482.4(KMT2D):c.8876C>G (p.Thr2959Ser)
|
rs3741624
|
|
|
NM_003482.4(KMT2D):c.9415C>T (p.Pro3139Ser)
|
rs551794772
|
|
|
NM_003482.4(KMT2D):c.9727A>G (p.Ser3243Gly)
|
rs2498381843
|
|
|
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly)
|
rs2148537151
|
|
|
NM_003491.4(NAA10):c.322_333del (p.Ser108_Val111del)
|
rs2521331965
|
|
|
NM_003494.4(DYSF):c.1486C>A (p.Pro496Thr)
|
rs368577086
|
|
|
NM_003494.4(DYSF):c.88+10G>T
|
rs1427806637
|
|
|
NM_003542.4(H4C3):c.133A>T (p.Lys45Ter)
|
rs1455511673
|
|
|
NM_003560.4(PLA2G6):c.665C>T (p.Thr222Ile)
|
rs2518041968
|
|
|
NM_003571.4(BFSP2):c.27C>G (p.Asp9Glu)
|
rs2073348739
|
|
|
NM_003571.4(BFSP2):c.461G>T (p.Arg154Leu)
|
rs756099408
|
|
|
NM_003587.5(DHX16):c.1126-3T>C
|
rs367757181
|
|
|
NM_003587.5(DHX16):c.447-1G>A
|
rs2534557224
|
|
|
NM_003590.5(CUL3):c.1377+35_1377+38del
|
rs1559143237
|
|
|
NM_003590.5(CUL3):c.1939G>T (p.Glu647Ter)
|
rs2106151792
|
|
|
NM_003590.5(CUL3):c.817A>G (p.Met273Val)
|
rs2106215189
|
|
|
NM_003611.3(OFD1):c.1492GAG[1] (p.Glu499del)
|
rs756478997
|
|
|
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser)
|
rs1555900746
|
|
|
NM_003611.3(OFD1):c.2321C>T (p.Ser774Leu)
|
rs2518946724
|
|
|
NM_003611.3(OFD1):c.2966A>T (p.Asp989Val)
|
rs2519004000
|
|
|
NM_003611.3(OFD1):c.773A>G (p.Glu258Gly)
|
rs2518839382
|
|
|
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
|
rs754044595
|
|
|
NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)
|
rs377444158
|
|
|
NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)
|
rs2530549325
|
|
|
NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)
|
rs2530531606
|
|
|
NM_003620.4(PPM1D):c.1017+10G>T
|
rs2031280338
|
|
|
NM_003620.4(PPM1D):c.756_759del (p.His253fs)
|
rs2544448843
|
|
|
NM_003630.3(PEX3):c.842A>G (p.Asn281Ser)
|
rs1780192572
|
|
|
NM_003632.3(CNTNAP1):c.2341G>C (p.Asp781His)
|
rs764798398
|
|
|
NM_003632.3(CNTNAP1):c.3814+2T>A
|
rs2543806199
|
|
|
NM_003632.3(CNTNAP1):c.67T>C (p.Tyr23His)
|
rs2543784521
|
|
|
NM_003640.5(ELP1):c.605G>A (p.Gly202Glu)
|
rs776300430
|
|
|
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
|
rs2530812389
|
|
|
NM_003665.4(FCN3):c.797G>A (p.Arg266His)
|
rs746674895
|
|
|
NM_003673.4(TCAP):c.217A>G (p.Ile73Val)
|
rs2543739248
|
|
|
NM_003673.4(TCAP):c.326C>A (p.Thr109Asn)
|
rs2543739705
|
|
|
NM_003673.4(TCAP):c.386A>C (p.Asp129Ala)
|
rs1324156287
|
|
|
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser)
|
rs374886575
|
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
|
NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr)
|
rs2468632420
|
|
|
NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)
|
rs201199211
|
|
|
NM_003718.5(CDK13):c.1856A>T (p.Asp619Val)
|
rs2483755375
|
|
|
NM_003718.5(CDK13):c.1960G>A (p.Glu654Lys)
|
rs779238052
|
|
|
NM_003718.5(CDK13):c.2450T>A (p.Phe817Tyr)
|
rs2483940402
|
|
|
NM_003718.5(CDK13):c.3125C>G (p.Ala1042Gly)
|
rs1161788357
|
|
|
NM_003718.5(CDK13):c.482G>T (p.Gly161Val)
|
rs902803165
|
|
|
NM_003719.5(PDE8B):c.2136T>C (p.His712=)
|
rs1796255285
|
|
|
NM_003722.5(TP63):c.926A>G (p.Asn309Ser)
|
rs2474609111
|
|
|
NM_003724.4(JRK):c.379G>T (p.Glu127Ter)
|
rs2539860022
|
|
|
NM_003728.4(UNC5C):c.2676C>G (p.Ile892Met)
|
rs2530401034
|
|
|
NM_003730.6(RNASET2):c.261+3A>G
|
rs1261086042
|
|
|
NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)
|
rs781239107
|
|
|
NM_003730.6(RNASET2):c.502T>C (p.Phe168Leu)
|
rs1447243603
|
|
|
NM_003737.4(DCHS1):c.1383C>A (p.His461Gln)
|
rs150938956
|
|
|
NM_003737.4(DCHS1):c.1978G>A (p.Val660Met)
|
rs776994461
|
|
|
NM_003737.4(DCHS1):c.4442C>T (p.Pro1481Leu)
|
rs2493824314
|
|
|
NM_003737.4(DCHS1):c.6301C>A (p.Pro2101Thr)
|
rs2493817439
|
|
|
NM_003737.4(DCHS1):c.7441A>G (p.Ser2481Gly)
|
rs2493813108
|
|
|
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln)
|
rs200152314
|
|
|
NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)
|
rs773730257
|
|
|
NM_003742.4(ABCB11):c.1976A>G (p.Gln659Arg)
|
rs774437128
|
|
|
NM_003742.4(ABCB11):c.2878A>T (p.Ile960Phe)
|
rs776042962
|
|
|
NM_003742.4(ABCB11):c.3386T>C (p.Phe1129Ser)
|
rs2545249339
|
|
|
NM_003742.4(ABCB11):c.585G>C (p.Val195=)
|
rs11568365
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
|
NM_003747.3(TNKS):c.71C>T (p.Ala24Val)
|
rs2486225695
|
|
|
NM_003801.4(GPAA1):c.1A>C (p.Met1Leu)
|
rs1554763664
|
|
|
NM_003803.4(MYOM1):c.5041G>C (p.Gly1681Arg)
|
rs769553242
|
|
|
NM_003803.4(MYOM1):c.979ATT[1] (p.Ile328del)
|
rs765548922
|
|
|
NM_003823.4(TNFRSF6B):c.772C>A (p.Arg258Ser)
|
rs570762078
|
|
|
NM_003823.4(TNFRSF6B):c.824G>C (p.Arg275Pro)
|
rs566823245
|
|
|
NM_003839.4(TNFRSF11A):c.1115C>T (p.Pro372Leu)
|
rs2511592448
|
|
|
NM_003839.4(TNFRSF11A):c.781A>G (p.Lys261Glu)
|
rs2511586410
|
|
|
NM_003849.4(SUCLG1):c.40A>G (p.Met14Val)
|
rs796052053
|
|
|
NM_003849.4(SUCLG1):c.548T>G (p.Ile183Ser)
|
rs140626260
|
|
|
NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)
|
rs2541707487
|
|
|
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)
|
rs1555256440
|
|
|
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
|
rs2515740872
|
|
|
NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)
|
rs2467075451
|
|
|
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)
|
rs377371202
|
|
|
NM_003900.5(SQSTM1):c.808_810del (p.Pro270del)
|
rs1758316662
|
|
|
NM_003901.4(SGPL1):c.452G>A (p.Ser151Asn)
|
rs1589465204
|
|
|
NM_003906.5(MCM3AP):c.3684_3695del (p.Ala1229_Thr1232del)
|
rs2517367922
|
|
|
NM_003906.5(MCM3AP):c.4204G>A (p.Asp1402Asn)
|
rs375959009
|
|
|
NM_003906.5(MCM3AP):c.589G>C (p.Val197Leu)
|
rs147601190
|
|
|
NM_003907.3(EIF2B5):c.2049C>G (p.Ser683Arg)
|
rs2473673876
|
|
|
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)
|
rs2484942333
|
|
|
NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr)
|
rs2484942309
|
|
|
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg)
|
rs370800943
|
|
|
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr)
|
rs1023091295
|
|
|
NM_003919.3(SGCE):c.21G>C (p.Trp7Cys)
|
rs201378067
|
|
|
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu)
|
rs2116959049
|
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
|
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)
|
rs2485109612
|
|
|
NM_003919.3(SGCE):c.788G>A (p.Arg263His)
|
rs375899729
|
|
|
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)
|
rs777023291
|
|
|
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)
|
rs1025829736
|
|
|
NM_003922.4(HERC1):c.344A>T (p.Tyr115Phe)
|
rs2551858136
|
|
|
NM_003922.4(HERC1):c.6949C>A (p.Leu2317Ile)
|
rs746098639
|
|
|
NM_003922.4(HERC1):c.7088C>T (p.Ser2363Leu)
|
rs2071127185
|
|
|
NM_003923.3(FOXH1):c.620C>T (p.Pro207Leu)
|
rs775697350
|
|
|
NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup)
|
rs17886470
|
|
|
NM_003924.4(PHOX2B):c.809G>T (p.Gly270Val)
|
rs1577558821
|
|
|
NM_003924.4(PHOX2B):c.881T>A (p.Val294Asp)
|
rs2552096767
|
|
|
NM_003931.3(WASF1):c.708A>T (p.Glu236Asp)
|
rs115861851
|
|
|
NM_003970.4(MYOM2):c.235del (p.Glu79fs)
|
rs1447144374
|
|
|
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)
|
rs369113632
|
|
|
NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)
|
rs2501974796
|
|
|
NM_003995.4(NPR2):c.2375A>G (p.Glu792Gly)
|
rs1828387201
|
|
|
NM_003995.4(NPR2):c.421C>T (p.Arg141Cys)
|
rs1396002750
|
|
|
NM_003995.4(NPR2):c.663_664delinsAA (p.Arg222Ser)
|
rs2491029942
|
|
|
NM_003995.4(NPR2):c.784C>A (p.Leu262Ile)
|
rs2491031710
|
|
|
NM_003998.4(NFKB1):c.2279C>G (p.Ser760Cys)
|
rs2149227862
|
|
|
NM_003998.4(NFKB1):c.2394T>G (p.Phe798Leu)
|
rs2476582322
|
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
|
NM_004006.3(DMD):c.*1023GTTG[4]
|
rs200048960
|
|
|
NM_004006.3(DMD):c.*479CA[6]
|
rs763028610
|
|
|
NM_004006.3(DMD):c.10010G>A (p.Cys3337Tyr)
|
rs2041037870
|
|
|
NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro)
|
rs2041036250
|
|
|
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly)
|
rs2148292190
|
|
|
NM_004006.3(DMD):c.10223+4del
|
rs2519935338
|
|
|
NM_004006.3(DMD):c.10223+5G>A
|
rs2148290176
|
|
|
NM_004006.3(DMD):c.10261G>A (p.Ala3421Thr)
|
rs2040705871
|
|
|
NM_004006.3(DMD):c.1079A>T (p.Asp360Val)
|
rs1556876337
|
|
|
NM_004006.3(DMD):c.10864G>C (p.Asp3622His)
|
rs1470608087
|
|
|
NM_004006.3(DMD):c.10879A>G (p.Met3627Val)
|
rs886044628
|
|
|
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)
|
rs763144501
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
|
NM_004006.3(DMD):c.11030G>A (p.Gly3677Glu)
|
rs2519115957
|
|
|
NM_004006.3(DMD):c.11045A>T (p.Glu3682Val)
|
rs2519115577
|
|
|
NM_004006.3(DMD):c.1195A>G (p.Ile399Val)
|
rs2146821417
|
|
|
NM_004006.3(DMD):c.131T>C (p.Leu44Pro)
|
rs2524951459
|
|
|
NM_004006.3(DMD):c.137A>T (p.Asp46Val)
|
rs398123858
|
|
|
NM_004006.3(DMD):c.140G>C (p.Gly47Ala)
|
rs398123860
|
|
|
NM_004006.3(DMD):c.1462C>A (p.Arg488Ser)
|
rs758932385
|
|
|
NM_004006.3(DMD):c.1482G>C (p.Lys494Asn)
|
rs2519179719
|
|
|
NM_004006.3(DMD):c.1603G>A (p.Val535Ile)
|
rs2052711854
|
|
|
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.1750A>C (p.Lys584Gln)
|
rs1601808608
|
|
|
NM_004006.3(DMD):c.2062G>A (p.Val688Met)
|
rs2148959937
|
|
|
NM_004006.3(DMD):c.2176G>T (p.Val726Phe)
|
rs886044365
|
|
|
NM_004006.3(DMD):c.2288T>A (p.Val763Asp)
|
rs2046030879
|
|
|
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
|
rs794727226
|
|
|
NM_004006.3(DMD):c.2380+3A>T
|
rs1569564916
|
|
|
NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)
|
rs868641814
|
|
|
NM_004006.3(DMD):c.2495T>A (p.Ile832Asn)
|
rs2525053175
|
|
|
NM_004006.3(DMD):c.2499C>G (p.Ile833Met)
|
rs752188036
|
|
|
NM_004006.3(DMD):c.2654C>T (p.Pro885Leu)
|
rs2042278940
|
|
|
NM_004006.3(DMD):c.2672A>G (p.Lys891Arg)
|
rs2524916043
|
|
|
NM_004006.3(DMD):c.2703A>T (p.Gly901=)
|
rs1236459366
|
|
|
NM_004006.3(DMD):c.2752T>G (p.Phe918Val)
|
rs2524912846
|
|
|
NM_004006.3(DMD):c.2762T>C (p.Val921Ala)
|
rs779873011
|
|
|
NM_004006.3(DMD):c.2915A>C (p.Tyr972Ser)
|
rs1159431849
|
|
|
NM_004006.3(DMD):c.298G>T (p.Val100Leu)
|
rs779099343
|
|
|
NM_004006.3(DMD):c.3086_3087delinsTC (p.Trp1029Phe)
|
rs2524612993
|
|
|
NM_004006.3(DMD):c.3274A>G (p.Arg1092Gly)
|
rs2148427138
|
|
|
NM_004006.3(DMD):c.3276+3A>T
|
rs2524535468
|
|
|
NM_004006.3(DMD):c.3334G>A (p.Gly1112Arg)
|
rs777598938
|
|
|
NM_004006.3(DMD):c.3428A>G (p.Gln1143Arg)
|
rs769607822
|
|
|
NM_004006.3(DMD):c.3508C>T (p.His1170Tyr)
|
rs1210629851
|
|
|
NM_004006.3(DMD):c.3541C>T (p.Leu1181Phe)
|
rs763213050
|
|
|
NM_004006.3(DMD):c.3592G>A (p.Glu1198Lys)
|
rs756522820
|
|
|
NM_004006.3(DMD):c.3644A>G (p.Lys1215Arg)
|
rs2524245807
|
|
|
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.3778A>G (p.Thr1260Ala)
|
rs886043957
|
|
|
NM_004006.3(DMD):c.3905T>C (p.Ile1302Thr)
|
rs2524124580
|
|
|
NM_004006.3(DMD):c.3979G>C (p.Ala1327Pro)
|
rs1159052632
|
|
|
NM_004006.3(DMD):c.4039T>G (p.Phe1347Val)
|
rs2524072023
|
|
|
NM_004006.3(DMD):c.4127A>C (p.Glu1376Ala)
|
rs2098143155
|
|
|
NM_004006.3(DMD):c.4244C>G (p.Ser1415Cys)
|
rs1569560771
|
|
|
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)
|
rs1603632326
|
|
|
NM_004006.3(DMD):c.4345-12C>G
|
rs398123951
|
|
|
NM_004006.3(DMD):c.4513T>C (p.Cys1505Arg)
|
rs2523113758
|
|
|
NM_004006.3(DMD):c.4520A>G (p.Asn1507Ser)
|
rs2097958822
|
|
|
NM_004006.3(DMD):c.4555G>A (p.Val1519Met)
|
rs2523044259
|
|
|
NM_004006.3(DMD):c.4634T>C (p.Val1545Ala)
|
rs2097958214
|
|
|
NM_004006.3(DMD):c.4640C>T (p.Ala1547Val)
|
rs1341974048
|
|
|
NM_004006.3(DMD):c.472A>C (p.Asn158His)
|
rs2148806453
|
|
|
NM_004006.3(DMD):c.497G>T (p.Gly166Val)
|
rs1557052538
|
|
|
NM_004006.3(DMD):c.5009G>C (p.Trp1670Ser)
|
rs2147258786
|
|
|
NM_004006.3(DMD):c.5093C>T (p.Ala1698Val)
|
rs1603631742
|
|
|
NM_004006.3(DMD):c.5544_5549del (p.1847IK[1])
|
rs780967715
|
|
|
NM_004006.3(DMD):c.5630A>T (p.His1877Leu)
|
rs796291308
|
|
|
NM_004006.3(DMD):c.5662G>A (p.Asp1888Asn)
|
rs2521864017
|
|
|
NM_004006.3(DMD):c.5750G>C (p.Arg1917Pro)
|
rs760528813
|
|
|
NM_004006.3(DMD):c.5764A>G (p.Lys1922Glu)
|
rs2148813529
|
|
|
NM_004006.3(DMD):c.5858G>C (p.Ser1953Thr)
|
rs1430944728
|
|
|
NM_004006.3(DMD):c.5872G>A (p.Glu1958Lys)
|
rs1057524825
|
|
|
NM_004006.3(DMD):c.596C>A (p.Ala199Glu)
|
rs1557047884
|
|
|
NM_004006.3(DMD):c.6017A>G (p.His2006Arg)
|
rs2148595619
|
|
|
NM_004006.3(DMD):c.6058G>T (p.Ala2020Ser)
|
rs765460659
|
|
|
NM_004006.3(DMD):c.6082T>G (p.Phe2028Val)
|
rs2097556386
|
|
|
NM_004006.3(DMD):c.6117G>C (p.Lys2039Asn)
|
rs2520265949
|
|
|
NM_004006.3(DMD):c.6220C>A (p.Leu2074Ile)
|
rs2519920512
|
|
|
NM_004006.3(DMD):c.6438+88106A>G
|
rs2536636129
|
|
|
NM_004006.3(DMD):c.649+5G>T
|
rs1557047808
|
|
|
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
|
rs2077187880
|
|
|
NM_004006.3(DMD):c.6566A>G (p.Asn2189Ser)
|
rs2534074672
|
|
|
NM_004006.3(DMD):c.6620A>T (p.Glu2207Val)
|
rs2533460366
|
|
|
NM_004006.3(DMD):c.6848T>C (p.Ile2283Thr)
|
rs2533417520
|
|
|
NM_004006.3(DMD):c.697A>G (p.Thr233Ala)
|
rs1429767974
|
|
|
NM_004006.3(DMD):c.7149G>T (p.Leu2383Phe)
|
rs2531880395
|
|
|
NM_004006.3(DMD):c.7190A>G (p.Gln2397Arg)
|
rs2531878754
|
|
|
NM_004006.3(DMD):c.7200G>A (p.Lys2400=)
|
rs2531878639
|
|
|
NM_004006.3(DMD):c.7201-4A>G
|
rs1556917126
|
|
|
NM_004006.3(DMD):c.7292T>C (p.Leu2431Pro)
|
rs2531581208
|
|
|
NM_004006.3(DMD):c.7333G>C (p.Val2445Leu)
|
rs2530842825
|
|
|
NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile)
|
rs2530840933
|
|
|
NM_004006.3(DMD):c.7421A>G (p.Asp2474Gly)
|
rs2149245152
|
|
|
NM_004006.3(DMD):c.76A>G (p.Asn26Asp)
|
rs1057521321
|
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
|
NM_004006.3(DMD):c.78T>G (p.Asn26Lys)
|
rs794727272
|
|
|
NM_004006.3(DMD):c.79G>C (p.Ala27Pro)
|
rs886043234
|
|
|
NM_004006.3(DMD):c.8080T>C (p.Phe2694Leu)
|
rs2148423031
|
|
|
NM_004006.3(DMD):c.8217+25642C>T
|
rs948994340
|
|
|
NM_004006.3(DMD):c.832A>G (p.Ile278Val)
|
rs779964937
|
|
|
NM_004006.3(DMD):c.8378C>G (p.Ser2793Cys)
|
rs770897689
|
|
|
NM_004006.3(DMD):c.8593A>G (p.Thr2865Ala)
|
rs1442972247
|
|
|
NM_004006.3(DMD):c.8767G>A (p.Ala2923Thr)
|
rs116283249
|
|
|
NM_004006.3(DMD):c.8775G>C (p.Trp2925Cys)
|
rs868688877
|
|
|
NM_004006.3(DMD):c.8781A>T (p.Arg2927Ser)
|
rs976735204
|
|
|
NM_004006.3(DMD):c.8928G>C (p.Glu2976Asp)
|
rs2525291088
|
|
|
NM_004006.3(DMD):c.8938-3C>G
|
rs398124079
|
|
|
NM_004006.3(DMD):c.8948G>A (p.Gly2983Glu)
|
rs1364568884
|
|
|
NM_004006.3(DMD):c.9047C>T (p.Thr3016Ile)
|
rs368098624
|
|
|
NM_004006.3(DMD):c.9572C>T (p.Thr3191Ile)
|
rs2521256079
|
|
|
NM_004006.3(DMD):c.9597T>A (p.Phe3199Leu)
|
rs760526098
|
|
|
NM_004006.3(DMD):c.9932C>A (p.Ala3311Asp)
|
rs2148334111
|
|
|
NM_004006.3(DMD):c.9947G>A (p.Cys3316Tyr)
|
rs2520021391
|
|
|
NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs)
|
rs2105985030
|
|
|
NM_004055.5(CAPN5):c.1589_1592delinsGGTGAG (p.Lys530_Asp531delinsArgTer)
|
rs2496311847
|
|
|
NM_004068.4(AP2M1):c.916G>A (p.Val306Ile)
|
rs2473725773
|
|
|
NM_004070.4(CLCNKA):c.1425_1426del (p.Ala477fs)
|
rs2524324333
|
|
|
NM_004082.5(DCTN1):c.2429C>T (p.Ala810Val)
|
rs372500630
|
|
|
NM_004082.5(DCTN1):c.3113A>G (p.Asn1038Ser)
|
rs1573147783
|
|
|
NM_004082.5(DCTN1):c.414+1G>T
|
rs576198476
|
|
|
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu)
|
rs112725508
|
|
|
NM_004092.4(ECHS1):c.62G>C (p.Cys21Ser)
|
rs1436440154
|
|
|
NM_004092.4(ECHS1):c.67G>C (p.Ala23Pro)
|
rs759853219
|
|
|
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser)
|
rs1554885535
|
|
|
NM_004100.5(EYA4):c.443A>G (p.Tyr148Cys)
|
rs939001947
|
|
|
NM_004104.5(FASN):c.3815C>T (p.Ala1272Val)
|
rs2509835152
|
|
|
NM_004104.5(FASN):c.4409+1G>A
|
rs2509834036
|
|
|
NM_004111.6(FEN1):c.569T>C (p.Leu190Pro)
|
rs774159619
|
|
|
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
|
rs780266108
|
|
|
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
|
rs868409328
|
|
|
NM_004114.5(FGF13):c.527A>G (p.Glu176Gly)
|
rs2089173591
|
|
|
NM_004115.4(FGF14):c.68G>C (p.Arg23Pro)
|
rs770151212
|
|
|
NM_004130.4(GYG1):c.713C>G (p.Pro238Arg)
|
rs2107921870
|
|
|
NM_004168.4(SDHA):c.-1C>T
|
rs560932680
|
|
|
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1351C>G (p.Arg451Gly)
|
rs1553999752
|
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.929G>A (p.Gly310Glu)
|
rs760542965
|
|
|
NM_004169.5(SHMT1):c.773C>T (p.Thr258Ile)
|
rs1984320933
|
|
|
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
|
rs2497743180
|
|
|
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
|
rs2497617764
|
|
|
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
|
rs377633002
|
|
|
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
|
rs2497922356
|
|
|
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
|
rs778666459
|
|
|
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu)
|
rs1851730752
|
|
|
NM_004179.3(TPH1):c.302-2_311del
|
rs2493998538
|
|
|
NM_004184.4(WARS1):c.435G>T (p.Gln145His)
|
rs1197465536
|
|
|
NM_004187.5(KDM5C):c.1243-3C>T
|
rs1356363939
|
|
|
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp)
|
rs2146833113
|
|
|
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
|
rs782793591
|
|
|
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
|
rs1602158239
|
|
|
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
|
rs2519552117
|
|
|
NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs)
|
rs2505936772
|
|
|
NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro)
|
rs138436451
|
|
|
NM_004204.5(PIGQ):c.1673del (p.Gly558fs)
|
rs767910865
|
|
|
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile)
|
rs1056740593
|
|
|
NM_004208.4(AIFM1):c.1163A>C (p.Lys388Thr)
|
rs2523119115
|
|
|
NM_004208.4(AIFM1):c.147G>C (p.Gln49His)
|
rs867606904
|
|
|
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)
|
rs2030801584
|
|
|
NM_004211.5(SLC6A5):c.1967A>C (p.Tyr656Ser)
|
rs2494168426
|
|
|
NM_004218.4(RAB11B):c.511+5_511+10del
|
rs749841821
|
|
|
NM_004239.4(TRIP11):c.720G>C (p.Gln240His)
|
rs747592949
|
|
|
NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr)
|
rs781005961
|
|
|
NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys)
|
rs1017504685
|
|
|
NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg)
|
rs2508728076
|
|
|
NM_004247.4(EFTUD2):c.702+3_702+4delinsAG
|
rs2508819786
|
|
|
NM_004251.5(RAB9A):c.-116+3566G>A
|
rs2518585541
|
|
|
NM_004260.4(RECQL4):c.1676G>A (p.Arg559Lys)
|
rs1324762406
|
|
|
NM_004260.4(RECQL4):c.1765G>A (p.Gly589Ser)
|
rs1060501364
|
|
|
NM_004260.4(RECQL4):c.1779C>A (p.Ala593=)
|
rs369939552
|
|
|
NM_004260.4(RECQL4):c.1A>G (p.Met1Val)
|
rs964623569
|
|
|
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)
|
rs531970883
|
|
|
NM_004260.4(RECQL4):c.2832T>A (p.His944Gln)
|
rs754047453
|
|
|
NM_004260.4(RECQL4):c.3200_3205dup (p.Ala1068_Arg1069insLeuAla)
|
rs921796381
|
|
|
NM_004260.4(RECQL4):c.3304G>A (p.Asp1102Asn)
|
rs1422371025
|
|
|
NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu)
|
rs1827286027
|
|
|
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His)
|
rs61755067
|
|
|
NM_004260.4(RECQL4):c.428C>G (p.Pro143Arg)
|
rs751329011
|
|
|
NM_004268.5(MED17):c.730G>A (p.Asp244Asn)
|
rs2497527550
|
|
|
NM_004268.5(MED17):c.761C>G (p.Ser254Cys)
|
rs369349413
|
|
|
NM_004268.5(MED17):c.871T>C (p.Trp291Arg)
|
rs1352488616
|
|
|
NM_004281.4(BAG3):c.1028G>A (p.Arg343His)
|
rs774085746
|
|
|
NM_004281.4(BAG3):c.1114C>T (p.Pro372Ser)
|
rs1270108291
|
|
|
NM_004281.4(BAG3):c.1165A>G (p.Ser389Gly)
|
rs752618673
|
|
|
NM_004281.4(BAG3):c.1210G>A (p.Glu404Lys)
|
rs1165453591
|
|
|
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del)
|
rs761727804
|
|
|
NM_004281.4(BAG3):c.277T>C (p.Tyr93His)
|
rs960439911
|
|
|
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
|
rs145393807
|
|
|
NM_004281.4(BAG3):c.427G>A (p.Glu143Lys)
|
rs772004889
|
|
|
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.523G>C (p.Ala175Pro)
|
rs1365920672
|
|
|
NM_004281.4(BAG3):c.52G>A (p.Asp18Asn)
|
rs2134050513
|
|
|
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu)
|
rs1847160690
|
|
|
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del)
|
rs763170019
|
|
|
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)
|
rs201487919
|
|
|
NM_004281.4(BAG3):c.787G>A (p.Ala263Thr)
|
rs749406496
|
|
|
NM_004284.6(CHD1L):c.2364del (p.Glu789fs)
|
rs782315074
|
|
|
NM_004284.6(CHD1L):c.676dup (p.Ser226fs)
|
rs1334434011
|
|
|
NM_004284.6(CHD1L):c.762G>T (p.Leu254Phe)
|
rs782107935
|
|
|
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)
|
rs780211637
|
|
|
NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg)
|
rs2146973883
|
|
|
NM_004287.5(GOSR2):c.5A>C (p.Asp2Ala)
|
rs1413496484
|
|
|
NM_004304.5(ALK):c.1507G>A (p.Val503Ile)
|
rs1229156257
|
|
|
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)
|
rs61754865
|
|
|
NM_004304.5(ALK):c.4393G>C (p.Val1465Leu)
|
rs769128867
|
|
|
NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del)
|
rs755556501
|
|
|
NM_004304.5(ALK):c.592G>C (p.Val198Leu)
|
rs77677701
|
|
|
NM_004304.5(ALK):c.616G>A (p.Ala206Thr)
|
rs141093002
|
|
|
NM_004304.5(ALK):c.782G>T (p.Arg261Leu)
|
rs375097381
|
|
|
NM_004304.5(ALK):c.874C>T (p.Arg292Cys)
|
rs201750304
|
|
|
NM_004316.4(ASCL1):c.102_114delinsC (p.Ala44_Ala47del)
|
rs2499584062
|
|
|
NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)
|
rs774147813
|
|
|
NM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr)
|
rs372270451
|
|
|
NM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val)
|
rs2152209408
|
|
|
NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)
|
rs2506331236
|
|
|
NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)
|
rs2506331923
|
|
|
NM_004320.6(ATP2A1):c.1603G>A (p.Val535Met)
|
rs1433734726
|
|
|
NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)
|
rs2506333441
|
|
|
NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)
|
rs778416825
|
|
|
NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu)
|
rs142091964
|
|
|
NM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys)
|
rs765984663
|
|
|
NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)
|
rs2506239408
|
|
|
NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)
|
rs141394193
|
|
|
NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)
|
rs2506347241
|
|
|
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys)
|
rs148957878
|
|
|
NM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val)
|
rs2506348763
|
|
|
NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)
|
rs2506354290
|
|
|
NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)
|
rs2506355355
|
|
|
NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)
|
rs764278626
|
|
|
NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu)
|
rs200445830
|
|
|
NM_004320.6(ATP2A1):c.527A>T (p.Asp176Val)
|
rs1263551630
|
|
|
NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe)
|
rs201515814
|
|
|
NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)
|
rs2506281627
|
|
|
NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)
|
rs2506282042
|
|
|
NM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser)
|
|
|
|
NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys)
|
rs778514898
|
|
|
NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)
|
rs1963647422
|
|
|
NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val)
|
rs2152203938
|
|
|
NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)
|
rs2506283081
|
|
|
NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)
|
rs2506283617
|
|
|
NM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser)
|
rs766101847
|
|
|
NM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln)
|
rs1409431511
|
|
|
NM_004329.3(BMPR1A):c.547A>G (p.Ile183Val)
|
rs935076000
|
|
|
NM_004329.3(BMPR1A):c.647C>T (p.Ser216Phe)
|
rs2539574257
|
|
|
NM_004333.6(BRAF):c.1084C>T (p.Arg362Ter)
|
rs397516885
|
|
|
NM_004333.6(BRAF):c.1205C>A (p.Pro402His)
|
rs199927105
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
|
NM_004341.5(CAD):c.1331A>G (p.Gln444Arg)
|
rs2465297929
|
|
|
NM_004341.5(CAD):c.5318C>G (p.Pro1773Arg)
|
rs2465354104
|
|
|
NM_004356.4(CD81):c.352C>T (p.Gln118Ter)
|
rs2496532570
|
|
|
NM_004360.5(CDH1):c.1674C>G (p.Asn558Lys)
|
rs1961078305
|
|
|
NM_004360.5(CDH1):c.1805T>C (p.Phe602Ser)
|
rs2543942386
|
|
|
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala)
|
rs945866627
|
|
|
NM_004360.5(CDH1):c.503A>G (p.Lys168Arg)
|
rs1483883033
|
|
|
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu)
|
rs2513331184
|
|
|
NM_004366.6(CLCN2):c.1067A>C (p.Asn356Thr)
|
rs764793623
|
|
|
NM_004366.6(CLCN2):c.1335G>A (p.Met445Ile)
|
rs141518215
|
|
|
NM_004369.4(COL6A3):c.1148C>G (p.Ala383Gly)
|
rs549318151
|
|
|
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)
|
rs886043010
|
|
|
NM_004369.4(COL6A3):c.1555G>C (p.Asp519His)
|
rs1166588127
|
|
|
NM_004369.4(COL6A3):c.1687G>T (p.Asp563Tyr)
|
rs2469928800
|
|
|
NM_004369.4(COL6A3):c.1694T>C (p.Ile565Thr)
|
rs2469928756
|
|
|
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
|
rs2469928308
|
|
|
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile)
|
rs886043319
|
|
|
NM_004369.4(COL6A3):c.1839G>T (p.Leu613Phe)
|
rs560375314
|
|
|
NM_004369.4(COL6A3):c.1846A>G (p.Met616Val)
|
rs886043993
|
|
|
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
|
rs149187225
|
|
|
NM_004369.4(COL6A3):c.2011A>G (p.Ile671Val)
|
rs777358507
|
|
|
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu)
|
rs35227432
|
|
|
NM_004369.4(COL6A3):c.2095A>G (p.Lys699Glu)
|
rs2469920801
|
|
|
NM_004369.4(COL6A3):c.2120G>A (p.Arg707Lys)
|
rs747775023
|
|
|
NM_004369.4(COL6A3):c.212T>C (p.Val71Ala)
|
rs2469974815
|
|
|
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)
|
rs113393241
|
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
|
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
|
rs575412915
|
|
|
NM_004369.4(COL6A3):c.2322T>A (p.Phe774Leu)
|
rs1669867578
|
|
|
NM_004369.4(COL6A3):c.2324G>T (p.Cys775Phe)
|
rs756337970
|
|
|
NM_004369.4(COL6A3):c.2462G>A (p.Ser821Asn)
|
rs2077915593
|
|
|
NM_004369.4(COL6A3):c.264T>A (p.His88Gln)
|
rs1182430977
|
|
|
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
|
rs780855121
|
|
|
NM_004369.4(COL6A3):c.2848G>A (p.Gly950Arg)
|
rs772748582
|
|
|
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
|
rs543253703
|
|
|
NM_004369.4(COL6A3):c.3059C>G (p.Ala1020Gly)
|
rs779382813
|
|
|
NM_004369.4(COL6A3):c.3092T>C (p.Val1031Ala)
|
rs2469907232
|
|
|
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)
|
rs2077798088
|
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
|
NM_004369.4(COL6A3):c.3250T>C (p.Ser1084Pro)
|
rs2469906638
|
|
|
NM_004369.4(COL6A3):c.3307G>C (p.Gly1103Arg)
|
rs2077789387
|
|
|
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
|
rs374447921
|
|
|
NM_004369.4(COL6A3):c.3429G>T (p.Arg1143Ser)
|
rs146171151
|
|
|
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg)
|
rs146313030
|
|
|
NM_004369.4(COL6A3):c.3478G>T (p.Ala1160Ser)
|
rs1559249972
|
|
|
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
|
rs2469904834
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
|
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
|
rs762563572
|
|
|
NM_004369.4(COL6A3):c.3790G>C (p.Val1264Leu)
|
rs541703064
|
|
|
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn)
|
rs752309834
|
|
|
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)
|
rs148561729
|
|
|
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys)
|
rs750341446
|
|
|
NM_004369.4(COL6A3):c.4019T>C (p.Leu1340Pro)
|
rs2469896981
|
|
|
NM_004369.4(COL6A3):c.4162G>A (p.Val1388Met)
|
rs2077696598
|
|
|
NM_004369.4(COL6A3):c.4175G>A (p.Ser1392Asn)
|
rs1174544680
|
|
|
NM_004369.4(COL6A3):c.4222A>G (p.Ile1408Val)
|
rs2469896125
|
|
|
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
|
rs746007396
|
|
|
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
|
rs373597770
|
|
|
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
|
rs144223596
|
|
|
NM_004369.4(COL6A3):c.4577A>T (p.Asn1526Ile)
|
rs746263789
|
|
|
NM_004369.4(COL6A3):c.4598G>A (p.Gly1533Glu)
|
rs994572495
|
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
|
NM_004369.4(COL6A3):c.5137G>A (p.Gly1713Arg)
|
rs2469883944
|
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
|
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
|
rs755698278
|
|
|
NM_004369.4(COL6A3):c.5569G>A (p.Gly1857Ser)
|
rs2469880467
|
|
|
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)
|
rs756521643
|
|
|
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser)
|
rs756521643
|
|
|
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
|
rs139230842
|
|
|
NM_004369.4(COL6A3):c.5809T>G (p.Phe1937Val)
|
rs2469879635
|
|
|
NM_004369.4(COL6A3):c.5829C>G (p.Asp1943Glu)
|
rs1172157701
|
|
|
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
|
rs753805537
|
|
|
NM_004369.4(COL6A3):c.58T>A (p.Phe20Ile)
|
rs1261167748
|
|
|
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln)
|
rs1362987398
|
|
|
NM_004369.4(COL6A3):c.6053C>A (p.Ala2018Glu)
|
rs200239695
|
|
|
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)
|
rs1559229322
|
|
|
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)
|
rs398124125
|
|
|
NM_004369.4(COL6A3):c.6245A>C (p.Gln2082Pro)
|
rs2469861971
|
|
|
NM_004369.4(COL6A3):c.6354+5G>A
|
rs1409171296
|
|
|
NM_004369.4(COL6A3):c.6571C>T (p.Pro2191Ser)
|
rs370056446
|
|
|
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
|
rs370862741
|
|
|
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser)
|
rs1243164167
|
|
|
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys)
|
rs113961575
|
|
|
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)
|
rs1339553173
|
|
|
NM_004369.4(COL6A3):c.7300A>G (p.Ile2434Val)
|
rs1040346559
|
|
|
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
|
rs2077062854
|
|
|
NM_004369.4(COL6A3):c.7394G>T (p.Arg2465Met)
|
rs865943068
|
|
|
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys)
|
rs998223951
|
|
|
NM_004369.4(COL6A3):c.7430A>G (p.Gln2477Arg)
|
rs2469817329
|
|
|
NM_004369.4(COL6A3):c.7469C>T (p.Ala2490Val)
|
rs2469817208
|
|
|
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
|
rs749651818
|
|
|
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
|
rs1423559272
|
|
|
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu)
|
rs1553546746
|
|
|
NM_004369.4(COL6A3):c.77A>C (p.Gln26Pro)
|
rs1381568881
|
|
|
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
|
rs1235022762
|
|
|
NM_004369.4(COL6A3):c.787G>C (p.Asp263His)
|
rs774576681
|
|
|
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
|
rs773192776
|
|
|
NM_004369.4(COL6A3):c.7924A>G (p.Ile2642Val)
|
rs781775472
|
|
|
NM_004369.4(COL6A3):c.7927G>T (p.Ala2643Ser)
|
rs757801355
|
|
|
NM_004369.4(COL6A3):c.8014_8016dup (p.Ser2672_Glu2673insSer)
|
rs2469805235
|
|
|
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
|
rs2469805101
|
|
|
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
|
rs1354287830
|
|
|
NM_004369.4(COL6A3):c.8218G>C (p.Val2740Leu)
|
rs754870088
|
|
|
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
|
rs36104025
|
|
|
NM_004369.4(COL6A3):c.8723C>G (p.Ala2908Gly)
|
rs1273582150
|
|
|
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr)
|
rs1361910233
|
|
|
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)
|
rs773820329
|
|
|
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup)
|
rs35879189
|
|
|
NM_004369.4(COL6A3):c.892A>G (p.Thr298Ala)
|
rs2469949376
|
|
|
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)
|
rs1299012840
|
|
|
NM_004369.4(COL6A3):c.9152G>C (p.Gly3051Ala)
|
rs1700441073
|
|
|
NM_004369.4(COL6A3):c.9201A>C (p.Arg3067Ser)
|
rs1336555076
|
|
|
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)
|
rs886042363
|
|
|
NM_004369.4(COL6A3):c.9457G>A (p.Gly3153Arg)
|
rs769392747
|
|
|
NM_004370.6(COL12A1):c.1093A>C (p.Lys365Gln)
|
rs2533573196
|
|
|
NM_004370.6(COL12A1):c.1315G>A (p.Ala439Thr)
|
rs1197358409
|
|
|
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)
|
rs140583215
|
|
|
NM_004370.6(COL12A1):c.1744T>A (p.Ser582Thr)
|
rs1769412281
|
|
|
NM_004370.6(COL12A1):c.1803T>G (p.Asp601Glu)
|
rs2533564781
|
|
|
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg)
|
rs779409298
|
|
|
NM_004370.6(COL12A1):c.1891G>C (p.Ala631Pro)
|
rs952803259
|
|
|
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn)
|
rs2149461916
|
|
|
NM_004370.6(COL12A1):c.2182A>T (p.Asn728Tyr)
|
rs578094154
|
|
|
NM_004370.6(COL12A1):c.2299G>C (p.Glu767Gln)
|
rs1769042823
|
|
|
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
|
rs1582185171
|
|
|
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
|
rs2533532693
|
|
|
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
|
rs1768862517
|
|
|
NM_004370.6(COL12A1):c.2681C>A (p.Ala894Asp)
|
rs2533516466
|
|
|
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr)
|
rs1768261723
|
|
|
NM_004370.6(COL12A1):c.3004C>A (p.Leu1002Met)
|
rs2533427726
|
|
|
NM_004370.6(COL12A1):c.301G>C (p.Glu101Gln)
|
rs2533616668
|
|
|
NM_004370.6(COL12A1):c.3052C>T (p.Pro1018Ser)
|
rs1278431668
|
|
|
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)
|
rs200985706
|
|
|
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr)
|
rs1767764412
|
|
|
NM_004370.6(COL12A1):c.3130C>T (p.Pro1044Ser)
|
rs200490883
|
|
|
NM_004370.6(COL12A1):c.3593C>G (p.Ala1198Gly)
|
rs2533402851
|
|
|
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn)
|
rs1436778165
|
|
|
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)
|
rs375043994
|
|
|
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
|
rs376766442
|
|
|
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly)
|
rs2149415249
|
|
|
NM_004370.6(COL12A1):c.4148-4G>C
|
rs146899194
|
|
|
NM_004370.6(COL12A1):c.4195C>T (p.Arg1399Cys)
|
rs1292451766
|
|
|
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
|
rs1192859797
|
|
|
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile)
|
rs1246887485
|
|
|
NM_004370.6(COL12A1):c.4609C>G (p.Pro1537Ala)
|
rs1028650601
|
|
|
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)
|
rs373216375
|
|
|
NM_004370.6(COL12A1):c.490G>A (p.Ala164Thr)
|
rs374938590
|
|
|
NM_004370.6(COL12A1):c.4910T>C (p.Val1637Ala)
|
rs1219943711
|
|
|
NM_004370.6(COL12A1):c.5065T>G (p.Trp1689Gly)
|
rs2533320281
|
|
|
NM_004370.6(COL12A1):c.5304C>A (p.Ser1768Arg)
|
rs559168202
|
|
|
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
|
rs2533310366
|
|
|
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
|
rs201408175
|
|
|
NM_004370.6(COL12A1):c.5498G>A (p.Gly1833Asp)
|
rs1766497903
|
|
|
NM_004370.6(COL12A1):c.5638C>T (p.Pro1880Ser)
|
rs2533288601
|
|
|
NM_004370.6(COL12A1):c.5702G>A (p.Arg1901Lys)
|
rs2533285402
|
|
|
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)
|
rs1562184031
|
|
|
NM_004370.6(COL12A1):c.5816A>G (p.Asn1939Ser)
|
rs1162295476
|
|
|
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)
|
rs200487396
|
|
|
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
|
rs199747984
|
|
|
NM_004370.6(COL12A1):c.6172A>G (p.Ile2058Val)
|
rs2533264804
|
|
|
NM_004370.6(COL12A1):c.6176A>G (p.Tyr2059Cys)
|
rs2533264789
|
|
|
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys)
|
rs1402262599
|
|
|
NM_004370.6(COL12A1):c.652A>G (p.Met218Val)
|
rs2149475531
|
|
|
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
|
rs1765951451
|
|
|
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
|
rs746250737
|
|
|
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys)
|
rs754290184
|
|
|
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)
|
rs141593495
|
|
|
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)
|
rs1769227311
|
|
|
NM_004370.6(COL12A1):c.7531A>G (p.Ile2511Val)
|
rs2533182658
|
|
|
NM_004370.6(COL12A1):c.7582A>G (p.Asn2528Asp)
|
rs754177385
|
|
|
NM_004370.6(COL12A1):c.7596G>T (p.Lys2532Asn)
|
rs1430689789
|
|
|
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)
|
rs1302611725
|
|
|
NM_004370.6(COL12A1):c.7736T>C (p.Ile2579Thr)
|
rs2533168603
|
|
|
NM_004370.6(COL12A1):c.7844C>A (p.Ser2615Tyr)
|
rs2149358241
|
|
|
NM_004370.6(COL12A1):c.7868A>G (p.Asn2623Ser)
|
rs767180113
|
|
|
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
|
rs759690064
|
|
|
NM_004370.6(COL12A1):c.8114G>A (p.Ser2705Asn)
|
rs745309381
|
|
|
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val)
|
rs1476228934
|
|
|
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
|
rs190917891
|
|
|
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)
|
rs997353607
|
|
|
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)
|
rs1280191331
|
|
|
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)
|
rs572512247
|
|
|
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)
|
rs2149322917
|
|
|
NM_004380.3(CREBBP):c.1756A>G (p.Thr586Ala)
|
rs2053256106
|
|
|
NM_004380.3(CREBBP):c.2290A>G (p.Ile764Val)
|
rs2548423074
|
|
|
NM_004380.3(CREBBP):c.3052A>G (p.Arg1018Gly)
|
rs2548410384
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
|
NM_004380.3(CREBBP):c.349G>T (p.Ala117Ser)
|
rs374742063
|
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
|
NM_004380.3(CREBBP):c.4232G>T (p.Gly1411Val)
|
rs201186078
|
|
|
NM_004380.3(CREBBP):c.4960C>T (p.Pro1654Ser)
|
rs1019491789
|
|
|
NM_004380.3(CREBBP):c.5134C>G (p.His1712Asp)
|
rs2151316028
|
|
|
NM_004380.3(CREBBP):c.5245C>G (p.Leu1749Val)
|
rs368844792
|
|
|
NM_004380.3(CREBBP):c.6365A>C (p.Gln2122Pro)
|
rs2548345881
|
|
|
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)
|
rs772003652
|
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
|
NM_004380.3(CREBBP):c.67T>C (p.Ser23Pro)
|
rs2548581727
|
|
|
NM_004380.3(CREBBP):c.6949C>G (p.Gln2317Glu)
|
rs2151300278
|
|
|
NM_004380.3(CREBBP):c.7098_7102dup (p.Gln2368fs)
|
rs2548342107
|
|
|
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
|
rs549161381
|
|
|
NM_004387.4(NKX2-5):c.196C>T (p.Leu66Phe)
|
rs1202883517
|
|
|
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)
|
rs760723447
|
|
|
NM_004393.6(DAG1):c.1205G>A (p.Arg402His)
|
rs537829489
|
|
|
NM_004393.6(DAG1):c.1486C>T (p.Arg496Cys)
|
rs777836623
|
|
|
NM_004393.6(DAG1):c.161T>C (p.Leu54Pro)
|
rs2472166399
|
|
|
NM_004393.6(DAG1):c.1639G>T (p.Gly547Cys)
|
rs1008143167
|
|
|
NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr)
|
rs374936878
|
|
|
NM_004393.6(DAG1):c.188C>T (p.Thr63Ile)
|
rs754181564
|
|
|
NM_004393.6(DAG1):c.1985A>C (p.Asn662Thr)
|
rs149926112
|
|
|
NM_004393.6(DAG1):c.2022C>G (p.Ile674Met)
|
rs199795910
|
|
|
NM_004393.6(DAG1):c.2041A>T (p.Ile681Phe)
|
rs2051388011
|
|
|
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys)
|
rs142572135
|
|
|
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln)
|
rs201488118
|
|
|
NM_004393.6(DAG1):c.221T>C (p.Val74Ala)
|
rs2472167869
|
|
|
NM_004393.6(DAG1):c.2272G>A (p.Val758Met)
|
rs2472657970
|
|
|
NM_004393.6(DAG1):c.2319C>G (p.Ile773Met)
|
rs2472659575
|
|
|
NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr)
|
rs755251035
|
|
|
NM_004393.6(DAG1):c.2590C>T (p.Gln864Ter)
|
rs2472669175
|
|
|
NM_004393.6(DAG1):c.2639C>A (p.Pro880His)
|
rs2051416053
|
|
|
NM_004393.6(DAG1):c.285+1dup
|
rs2050744842
|
|
|
NM_004393.6(DAG1):c.425G>A (p.Gly142Glu)
|
rs2472597233
|
|
|
NM_004393.6(DAG1):c.532G>T (p.Val178Leu)
|
rs1217933283
|
|
|
NM_004393.6(DAG1):c.724A>G (p.Met242Val)
|
rs2472606316
|
|
|
NM_004393.6(DAG1):c.836C>G (p.Ala279Gly)
|
rs2051338634
|
|
|
NM_004393.6(DAG1):c.98G>C (p.Ser33Thr)
|
rs970621102
|
|
|
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)
|
rs1588449811
|
|
|
NM_004408.4(DNM1):c.2008A>C (p.Met670Leu)
|
rs973831370
|
|
|
NM_004408.4(DNM1):c.204C>G (p.Pro68=)
|
rs2538974528
|
|
|
NM_004408.4(DNM1):c.208G>C (p.Val70Leu)
|
rs1166353872
|
|
|
NM_004408.4(DNM1):c.2515G>A (p.Ala839Thr)
|
rs2539128676
|
|
|
NM_004408.4(DNM1):c.2583del (p.Phe862fs)
|
rs1244967245
|
|
|
NM_004408.4(DNM1):c.309C>G (p.Ala103=)
|
rs2538976520
|
|
|
NM_004408.4(DNM1):c.30_35del (p.Ile10_Leu12delinsMet)
|
rs2538912333
|
|
|
NM_004408.4(DNM1):c.352G>C (p.Val118Leu)
|
rs1834758362
|
|
|
NM_004408.4(DNM1):c.724A>G (p.Ile242Val)
|
rs2538985010
|
|
|
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser)
|
rs752005713
|
|
|
NM_004408.4(DNM1):c.849+3A>G
|
rs2538985470
|
|
|
NM_004408.4(DNM1):c.926A>G (p.Lys309Arg)
|
rs2538996372
|
|
|
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
|
NM_004415.4(DSP):c.83A>G (p.Tyr28Cys)
|
rs2533800937
|
|
|
NM_004423.4(DVL3):c.1738C>T (p.Arg580Cys)
|
rs2473705740
|
|
|
NM_004423.4(DVL3):c.1949_1950del (p.His650fs)
|
rs2473706145
|
|
|
NM_004431.5(EPHA2):c.2872A>G (p.Ile958Val)
|
rs2024443095
|
|
|
NM_004446.3(EPRS1):c.2929A>G (p.Lys977Glu)
|
rs765895209
|
|
|
NM_004446.3(EPRS1):c.4361A>G (p.Glu1454Gly)
|
rs751868893
|
|
|
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
|
rs2476735731
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
|
NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser)
|
rs1285260202
|
|
|
NM_004456.5(EZH2):c.1097A>G (p.Asn366Ser)
|
rs1352634479
|
|
|
NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)
|
rs1802412684
|
|
|
NM_004456.5(EZH2):c.2105C>T (p.Ala702Val)
|
rs2536286959
|
|
|
NM_004456.5(EZH2):c.397T>G (p.Tyr133Asp)
|
rs2537200779
|
|
|
NM_004456.5(EZH2):c.679A>G (p.Ile227Val)
|
rs2537073650
|
|
|
NM_004463.3(FGD1):c.1432G>A (p.Val478Met)
|
rs147008826
|
|
|
NM_004463.3(FGD1):c.2154G>A (p.Val718=)
|
rs2522692247
|
|
|
NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys)
|
rs2522688187
|
|
|
NM_004473.4(FOXE1):c.253G>T (p.Glu85Ter)
|
rs772452631
|
|
|
NM_004484.4(GPC3):c.1293-10A>G
|
rs2521016744
|
|
|
NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)
|
rs749735623
|
|
|
NM_004519.4(KCNQ3):c.2014A>G (p.Lys672Glu)
|
rs554613662
|
|
|
NM_004519.4(KCNQ3):c.2098C>T (p.His700Tyr)
|
rs2536858500
|
|
|
NM_004519.4(KCNQ3):c.2572G>A (p.Asp858Asn)
|
rs2536855995
|
|
|
NM_004522.3(KIF5C):c.1187C>A (p.Thr396Asn)
|
rs761630242
|
|
|
NM_004522.3(KIF5C):c.2230C>G (p.Leu744Val)
|
rs1681814884
|
|
|
NM_004522.3(KIF5C):c.2672T>C (p.Met891Thr)
|
rs1247905100
|
|
|
NM_004523.4(KIF11):c.1879G>A (p.Val627Ile)
|
rs142601912
|
|
|
NM_004523.4(KIF11):c.2369G>C (p.Gly790Ala)
|
rs772232382
|
|
|
NM_004523.4(KIF11):c.2704A>G (p.Ile902Val)
|
rs1157657745
|
|
|
NM_004525.3(LRP2):c.10169+6T>C
|
rs774133021
|
|
|
NM_004525.3(LRP2):c.12757G>C (p.Val4253Leu)
|
rs760760318
|
|
|
NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu)
|
rs191145030
|
|
|
NM_004525.3(LRP2):c.3509G>A (p.Gly1170Asp)
|
rs1287003705
|
|
|
NM_004525.3(LRP2):c.4844T>G (p.Met1615Arg)
|
rs1428373934
|
|
|
NM_004544.4(NDUFA10):c.1025_1026insATGG (p.Tyr343fs)
|
rs2469661884
|
|
|
NM_004544.4(NDUFA10):c.604dup (p.His202fs)
|
rs746019378
|
|
|
NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)
|
rs2509730362
|
|
|
NM_004560.4(ROR2):c.1331T>G (p.Leu444Arg)
|
rs2490135758
|
|
|
NM_004562.3(PRKN):c.44T>C (p.Val15Ala)
|
rs1790160024
|
|
|
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)
|
rs1603425338
|
|
|
NM_004586.3(RPS6KA3):c.928A>G (p.Arg310Gly)
|
rs2519686636
|
|
|
NM_004588.5(SCN2B):c.554G>C (p.Arg185Thr)
|
rs759084475
|
|
|
NM_004589.4(SCO1):c.555del (p.Asp185fs)
|
rs2507856341
|
|
|
NM_004595.5(SMS):c.1061+2T>C
|
rs772633367
|
|
|
NM_004595.5(SMS):c.261C>G (p.Asp87Glu)
|
rs2519662555
|
|
|
NM_004595.5(SMS):c.289A>G (p.Met97Val)
|
rs1924239118
|
|
|
NM_004606.5(TAF1):c.1666-10C>G
|
rs868381144
|
|
|
NM_004606.5(TAF1):c.1765A>G (p.Ile589Val)
|
rs1602485648
|
|
|
NM_004606.5(TAF1):c.1846T>G (p.Phe616Val)
|
rs1288584324
|
|
|
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)
|
rs864321629
|
|
|
NM_004606.5(TAF1):c.4375A>G (p.Thr1459Ala)
|
rs2521131401
|
|
|
NM_004606.5(TAF1):c.439AAG[1] (p.Lys148del)
|
rs2520097247
|
|
|
NM_004606.5(TAF1):c.5513A>G (p.Gln1838Arg)
|
rs772126195
|
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
|
NM_004614.5(TK2):c.220A>G (p.Thr74Ala)
|
rs2507183876
|
|
|
NM_004614.5(TK2):c.302A>G (p.Asp101Gly)
|
rs2144409814
|
|
|
NM_004614.5(TK2):c.647A>T (p.His216Leu)
|
rs538734975
|
|
|
NM_004629.2(FANCG):c.1144-3C>T
|
rs781723481
|
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
|
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
|
rs771451437
|
|
|
NM_004643.4(PABPN1):c.198_203dup (p.Glu71_Glu72insProGlu)
|
rs1376202215
|
|
|
NM_004643.4(PABPN1):c.242C>G (p.Pro81Arg)
|
rs912588128
|
|
|
NM_004643.4(PABPN1):c.31G>A (p.Ala11Thr)
|
rs1045060319
|
|
|
NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)
|
rs104894466
|
|
|
NM_004643.4(PABPN1):c.37G>C (p.Ala13Pro)
|
rs1293492884
|
|
|
NM_004643.4(PABPN1):c.3GGC[6] (p.Ala11del)
|
rs193922941
|
|
|
NM_004643.4(PABPN1):c.624_625dup (p.Ser209fs)
|
rs2501965071
|
|
|
NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala)
|
rs1973174583
|
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
|
NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)
|
rs2521698214
|
|
|
NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)
|
rs2521733407
|
|
|
NM_004655.4(AXIN2):c.1426C>G (p.Gln476Glu)
|
rs2144463053
|
|
|
NM_004655.4(AXIN2):c.1745A>G (p.Asn582Ser)
|
rs2144451495
|
|
|
NM_004655.4(AXIN2):c.1937T>C (p.Leu646Ser)
|
rs2509403464
|
|
|
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr)
|
rs529954883
|
|
|
NM_004656.4(BAP1):c.1201_1203delinsGAG (p.Tyr401Glu)
|
rs1553645128
|
|
|
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del)
|
rs776606194
|
|
|
NM_004656.4(BAP1):c.1445C>T (p.Ser482Leu)
|
rs753329341
|
|
|
NM_004656.4(BAP1):c.1705G>A (p.Val569Met)
|
rs2153226580
|
|
|
NM_004667.6(HERC2):c.10430A>G (p.Asp3477Gly)
|
rs2548962267
|
|
|
NM_004667.6(HERC2):c.13570G>A (p.Ala4524Thr)
|
rs144844826
|
|
|
NM_004667.6(HERC2):c.13966G>A (p.Val4656Ile)
|
rs776447701
|
|
|
NM_004667.6(HERC2):c.2465C>A (p.Pro822His)
|
rs1478260843
|
|
|
NM_004667.6(HERC2):c.2870A>G (p.Gln957Arg)
|
rs1423835791
|
|
|
NM_004667.6(HERC2):c.3260C>T (p.Ser1087Phe)
|
rs2549254537
|
|
|
NM_004667.6(HERC2):c.4191C>A (p.Asp1397Glu)
|
rs1351391704
|
|
|
NM_004667.6(HERC2):c.4497C>A (p.Gly1499=)
|
rs750663305
|
|
|
NM_004667.6(HERC2):c.4882G>C (p.Gly1628Arg)
|
rs763427404
|
|
|
NM_004667.6(HERC2):c.726C>G (p.Asp242Glu)
|
rs16950975
|
|
|
NM_004667.6(HERC2):c.8820C>G (p.Ser2940Arg)
|
rs140556070
|
|
|
NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)
|
rs2523955298
|
|
|
NM_004714.3(DYRK1B):c.1729C>T (p.Pro577Ser)
|
rs2514821156
|
|
|
NM_004714.3(DYRK1B):c.532C>G (p.Arg178Gly)
|
rs1239418224
|
|
|
NM_004733.4(SLC33A1):c.1277A>G (p.Tyr426Cys)
|
rs1752341895
|
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
|
NM_004807.3(HS6ST1):c.131C>T (p.Ala44Val)
|
rs1694408332
|
|
|
NM_004817.4(TJP2):c.1521-2_1521-1insTAA
|
rs759548386
|
|
|
NM_004817.4(TJP2):c.579_590del (p.Asp194_Arg197del)
|
rs756595560
|
|
|
NM_004820.5(CYP7B1):c.204G>T (p.Arg68Ser)
|
rs377119798
|
|
|
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)
|
rs145232171
|
|
|
NM_004826.4(ECEL1):c.1924C>G (p.Arg642Gly)
|
rs780485015
|
|
|
NM_004826.4(ECEL1):c.2039T>G (p.Leu680Arg)
|
rs2469637538
|
|
|
NM_004826.4(ECEL1):c.2279G>T (p.Cys760Phe)
|
rs2106181415
|
|
|
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)
|
rs2469652231
|
|
|
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)
|
rs770232594
|
|
|
NM_004855.5(PIGB):c.334C>G (p.Leu112Val)
|
rs779873882
|
|
|
NM_004855.5(PIGB):c.832A>G (p.Ile278Val)
|
rs772405711
|
|
|
NM_004855.5(PIGB):c.996T>A (p.Tyr332Ter)
|
rs997480445
|
|
|
NM_004859.4(CLTC):c.1196G>A (p.Arg399His)
|
rs2509378609
|
|
|
NM_004859.4(CLTC):c.1454C>T (p.Pro485Leu)
|
rs2143548929
|
|
|
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)
|
rs2079620247
|
|
|
NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)
|
rs2508546271
|
|
|
NM_004924.6(ACTN4):c.163-9C>T
|
rs2515170802
|
|
|
NM_004933.3(CDH15):c.1017dup (p.Val340fs)
|
rs748393817
|
|
|
NM_004933.3(CDH15):c.1131_1141delinsCCTCT (p.Glu377_Arg381delinsAspLeuTrp)
|
rs2543969959
|
|
|
NM_004933.3(CDH15):c.1435C>T (p.His479Tyr)
|
rs1334710849
|
|
|
NM_004933.3(CDH15):c.1590dup (p.Asn531fs)
|
rs761696101
|
|
|
NM_004933.3(CDH15):c.1796G>T (p.Gly599Val)
|
rs779470688
|
|
|
NM_004933.3(CDH15):c.481G>T (p.Val161Leu)
|
rs745984407
|
|
|
NM_004958.4(MTOR):c.1559T>C (p.Val520Ala)
|
rs2523333227
|
|
|
NM_004958.4(MTOR):c.2110G>A (p.Val704Met)
|
rs775657387
|
|
|
NM_004958.4(MTOR):c.2295C>A (p.Pro765=)
|
rs2523286401
|
|
|
NM_004958.4(MTOR):c.3074G>C (p.Ser1025Thr)
|
rs2100806593
|
|
|
NM_004958.4(MTOR):c.729G>T (p.Lys243Asn)
|
rs1650031550
|
|
|
NM_004958.4(MTOR):c.920G>C (p.Gly307Ala)
|
rs1649073784
|
|
|
NM_004960.4(FUS):c.1576T>A (p.Tyr526Asn)
|
rs2544281255
|
|
|
NM_004960.4(FUS):c.1581_*3del (p.Tyr526_Ter527insTer)
|
rs761955039
|
|
|
NM_004960.4(FUS):c.936+9G>A
|
rs2544271209
|
|
|
NM_004963.4(GUCY2C):c.784C>T (p.Arg262Ter)
|
rs762829348
|
|
|
NM_004970.3(IGFALS):c.17-144G>C
|
rs564730495
|
|
|
NM_004972.4(JAK2):c.2651T>G (p.Leu884Arg)
|
rs2489120796
|
|
|
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)
|
rs773970060
|
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
rs764306025
|
|
|
NM_004975.4(KCNB1):c.70G>A (p.Val24Met)
|
rs778774389
|
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
|
NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)
|
rs2513799049
|
|
|
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg)
|
rs368232448
|
|
|
NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)
|
rs1200080378
|
|
|
NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)
|
rs1428546180
|
|
|
NM_004984.4(KIF5A):c.1261A>C (p.Ile421Leu)
|
rs2540501738
|
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
rs1177916529
|
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
rs1465463508
|
|
|
NM_004985.5(KRAS):c.152G>C (p.Cys51Ser)
|
rs2141510355
|
|
|
NM_004991.4(MECOM):c.1384G>T (p.Ala462Ser)
|
rs756367370
|
|
|
NM_004991.4(MECOM):c.2327G>A (p.Ser776Asn)
|
rs2549403712
|
|
|
NM_004994.3(MMP9):c.831C>A (p.Tyr277Ter)
|
rs1464375443
|
|
|
NM_004999.4(MYO6):c.1139G>T (p.Gly380Val)
|
rs1490446690
|
|
|
NM_004999.4(MYO6):c.2060C>T (p.Ser687Phe)
|
rs765145836
|
|
|
NM_004999.4(MYO6):c.3176G>A (p.Arg1059Lys)
|
rs202214380
|
|
|
NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)
|
rs1591542079
|
|
|
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)
|
rs35263902
|
|
|
NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)
|
rs2470064710
|
|
|
NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)
|
rs62195386
|
|
|
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
|
rs778790424
|
|
|
NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala)
|
rs2147949246
|
|
|
NM_005027.4(PIK3R2):c.867G>A (p.Gln289=)
|
rs1460926702
|
|
|
NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)
|
rs562147939
|
|
|
NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)
|
rs1447425498
|
|
|
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala)
|
rs1382483563
|
|
|
NM_005045.4(RELN):c.2895A>T (p.Glu965Asp)
|
rs545827090
|
|
|
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
|
rs1830728121
|
|
|
NM_005045.4(RELN):c.65G>A (p.Arg22Lys)
|
rs139532757
|
|
|
NM_005045.4(RELN):c.7299C>A (p.Asp2433Glu)
|
rs1554372988
|
|
|
NM_005045.4(RELN):c.8119+3A>G
|
rs2484740565
|
|
|
NM_005045.4(RELN):c.887A>T (p.Gln296Leu)
|
rs2484937955
|
|
|
NM_005045.4(RELN):c.925ATC[1] (p.Ile310del)
|
rs1554404031
|
|
|
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)
|
rs752600100
|
|
|
NM_005051.3(QARS1):c.1090G>C (p.Glu364Gln)
|
rs2471851411
|
|
|
NM_005051.3(QARS1):c.1591G>A (p.Ala531Thr)
|
rs769641391
|
|
|
NM_005051.3(QARS1):c.2293del (p.Thr765fs)
|
rs2107087591
|
|
|
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)
|
rs1379395211
|
|
|
NM_005055.5(RAPSN):c.1183G>C (p.Gly395Arg)
|
rs768882267
|
|
|
NM_005055.5(RAPSN):c.169G>C (p.Gly57Arg)
|
rs2496136891
|
|
|
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)
|
rs2153311689
|
|
|
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)
|
rs1198989939
|
|
|
NM_005055.5(RAPSN):c.245T>C (p.Leu82Pro)
|
rs2496131569
|
|
|
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)
|
rs2153311318
|
|
|
NM_005055.5(RAPSN):c.314A>G (p.Tyr105Cys)
|
rs2076423714
|
|
|
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)
|
rs1198813718
|
|
|
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)
|
rs142635726
|
|
|
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)
|
rs2076375665
|
|
|
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
|
rs200603527
|
|
|
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
|
rs778113748
|
|
|
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
|
rs201947904
|
|
|
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)
|
rs201947904
|
|
|
NM_005058.4(RBMY1A1):c.1097G>T (p.Gly366Val)
|
rs2521917647
|
|
|
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
|
rs779892361
|
|
|
NM_005094.4(SLC27A4):c.868C>T (p.His290Tyr)
|
rs777257728
|
|
|
NM_005097.4(LGI1):c.167A>G (p.Glu56Gly)
|
rs2492801810
|
|
|
NM_005120.3(MED12):c.1348+1G>T
|
rs2147784276
|
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
|
NM_005120.3(MED12):c.3251A>C (p.Tyr1084Ser)
|
rs2147802115
|
|
|
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)
|
rs748064846
|
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
|
NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)
|
rs2092345436
|
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
|
NM_005121.3(MED13):c.4631C>G (p.Ser1544Cys)
|
rs2509242614
|
|
|
NM_005121.3(MED13):c.694T>A (p.Leu232Ile)
|
rs2509166537
|
|
|
NM_005121.3(MED13):c.749C>G (p.Ser250Cys)
|
rs761981290
|
|
|
NM_005138.3(SCO2):c.679G>A (p.Ala227Thr)
|
rs2522466006
|
|
|
NM_005138.3(SCO2):c.686A>G (p.Tyr229Cys)
|
rs2522465910
|
|
|
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
|
rs112793292
|
|
|
NM_005141.5(FGB):c.1468C>T (p.Gln490Ter)
|
rs1730384752
|
|
|
NM_005157.6(ABL1):c.2417C>T (p.Pro806Leu)
|
rs147510280
|
|
|
NM_005157.6(ABL1):c.2799A>C (p.Lys933Asn)
|
rs1831547347
|
|
|
NM_005157.6(ABL1):c.2812G>A (p.Val938Ile)
|
rs772762636
|
|
|
NM_005157.6(ABL1):c.3250C>T (p.Arg1084Ter)
|
rs1831564416
|
|
|
NM_005157.6(ABL1):c.826del (p.Asp276fs)
|
rs2490715368
|
|
|
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)
|
rs730880408
|
|
|
NM_005159.5(ACTC1):c.81C>A (p.Asp27Glu)
|
rs753552901
|
|
|
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)
|
rs104894269
|
|
|
NM_005178.5(BCL3):c.803T>G (p.Ile268Ser)
|
rs2513620471
|
|
|
NM_005186.4(CAPN1):c.805G>A (p.Val269Met)
|
rs1310011775
|
|
|
NM_005188.4(CBL):c.1091_1095+4del
|
rs2496938228
|
|
|
NM_005188.4(CBL):c.1296T>C (p.Asp432=)
|
rs1188095865
|
|
|
NM_005188.4(CBL):c.136C>T (p.His46Tyr)
|
rs1028757126
|
|
|
NM_005188.4(CBL):c.1470A>G (p.Gln490=)
|
rs1949969576
|
|
|
NM_005188.4(CBL):c.2056C>G (p.Leu686Val)
|
rs998810720
|
|
|
NM_005188.4(CBL):c.2252-1G>C
|
rs2496973494
|
|
|
NM_005188.4(CBL):c.2417A>T (p.Asp806Val)
|
rs2496974109
|
|
|
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu)
|
rs746795014
|
|
|
NM_005188.4(CBL):c.2659A>G (p.Met887Val)
|
rs1275341680
|
|
|
NM_005188.4(CBL):c.2680G>T (p.Glu894Ter)
|
rs1318882408
|
|
|
NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del)
|
rs778645316
|
|
|
NM_005198.5(CHKB):c.856T>C (p.Tyr286His)
|
rs764474062
|
|
|
NM_005199.5(CHRNG):c.1035+5G>C
|
rs2469753106
|
|
|
NM_005199.5(CHRNG):c.203G>A (p.Arg68Gln)
|
rs757339715
|
|
|
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)
|
rs863223313
|
|
|
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)
|
rs778114608
|
|
|
NM_005215.4(DCC):c.163G>C (p.Gly55Arg)
|
rs2145132802
|
|
|
NM_005219.5(DIAPH1):c.1512G>C (p.Lys504Asn)
|
rs2513745933
|
|
|
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
|
rs372170639
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
|
rs769926497
|
|
|
NM_005228.5(EGFR):c.1337C>T (p.Thr446Ile)
|
rs1310061365
|
|
|
NM_005228.5(EGFR):c.2618G>A (p.Gly873Glu)
|
rs2128964711
|
|
|
NM_005235.3(ERBB4):c.1289+1G>C
|
rs2469946635
|
|
|
NM_005236.3(ERCC4):c.1298T>G (p.Leu433Trp)
|
rs2543180202
|
|
|
NM_005236.3(ERCC4):c.1459A>G (p.Lys487Glu)
|
rs2543180677
|
|
|
NM_005236.3(ERCC4):c.1477A>C (p.Thr493Pro)
|
rs903811576
|
|
|
NM_005236.3(ERCC4):c.2017G>A (p.Gly673Ser)
|
rs760553358
|
|
|
NM_005245.4(FAT1):c.1241A>G (p.Asn414Ser)
|
rs1376048974
|
|
|
NM_005245.4(FAT1):c.13189A>G (p.Ile4397Val)
|
rs535317218
|
|
|
NM_005249.5(FOXG1):c.502G>A (p.Gly168Arg)
|
rs1881799450
|
|
|
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)
|
rs1555321334
|
|
|
NM_005251.3(FOXC2):c.1265C>T (p.Ala422Val)
|
rs200408083
|
|
|
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr)
|
rs1462457750
|
|
|
NM_005257.6(GATA6):c.783G>A (p.Ala261=)
|
rs2510626237
|
|
|
NM_005263.5(GFI1):c.106_107inv (p.Ser36Leu)
|
|
|
|
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)
|
rs782199122
|
|
|
NM_005269.3(GLI1):c.816G>T (p.Trp272Cys)
|
rs547877619
|
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
rs926360966
|
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
rs755258914
|
|
|
NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)
|
rs2518476330
|
|
|
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)
|
rs2148589382
|
|
|
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
|
rs782365595
|
|
|
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
|
rs2521520390
|
|
|
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
|
rs782407440
|
|
|
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
|
rs781788935
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
rs2148563453
|
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
|
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
|
rs2521470157
|
|
|
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
|
rs1557117178
|
|
|
NM_005336.6(HDLBP):c.1174C>T (p.Gln392Ter)
|
rs2072506183
|
|
|
NM_005336.6(HDLBP):c.80C>A (p.Ala27Asp)
|
rs1400305114
|
|
|
NM_005337.5(NCKAP1L):c.-797_-794del
|
rs71070822
|
|
|
NM_005337.5(NCKAP1L):c.2156+1G>C
|
rs2498611031
|
|
|
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser)
|
rs1370566417
|
|
|
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu)
|
rs1564788848
|
|
|
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser)
|
rs1851178613
|
|
|
NM_005349.4(RBPJ):c.20C>A (p.Ser7Ter)
|
rs1215606918
|
|
|
NM_005359.6(SMAD4):c.1408C>T (p.Pro470Ser)
|
rs2144474405
|
|
|
NM_005359.6(SMAD4):c.332A>T (p.His111Leu)
|
rs1064794363
|
|
|
NM_005359.6(SMAD4):c.451A>G (p.Asn151Asp)
|
rs1599182920
|
|
|
NM_005378.6(MYCN):c.1384C>T (p.Arg462Trp)
|
rs144531796
|
|
|
NM_005378.6(MYCN):c.347T>C (p.Met116Thr)
|
rs2527925602
|
|
|
NM_005391.5(PDK3):c.521del (p.Gly174fs)
|
rs2518580483
|
|
|
NM_005392.4(PHF2):c.1958C>T (p.Pro653Leu)
|
rs1413866075
|
|
|
NM_005392.4(PHF2):c.854G>T (p.Arg285Leu)
|
rs771361962
|
|
|
NM_005401.5(PTPN14):c.*6320C>T
|
rs1657710277
|
|
|
NM_005401.5(PTPN14):c.-154-22749A>G
|
rs539475298
|
|
|
NM_005413.4(SIX3):c.119GCG[5] (p.Gly43_Ala44insGly)
|
rs749091048
|
|
|
NM_005413.4(SIX3):c.214G>T (p.Ala72Ser)
|
rs757487016
|
|
|
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)
|
rs138681270
|
|
|
NM_005419.4(STAT2):c.83C>T (p.Pro28Leu)
|
rs2547270636
|
|
|
NM_005422.4(TECTA):c.4390T>G (p.Cys1464Gly)
|
rs2496972817
|
|
|
NM_005422.4(TECTA):c.553G>A (p.Glu185Lys)
|
rs867836820
|
|
|
NM_005422.4(TECTA):c.6296C>T (p.Thr2099Met)
|
rs149716373
|
|
|
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs746142129
|
|
|
NM_005445.4(SMC3):c.1692T>A (p.Asp564Glu)
|
rs2493128554
|
|
|
NM_005445.4(SMC3):c.2569A>G (p.Thr857Ala)
|
rs2493146459
|
|
|
NM_005450.6(NOG):c.457A>G (p.Thr153Ala)
|
rs2052470945
|
|
|
NM_005458.8(GABBR2):c.1662+1G>A
|
rs1832058906
|
|
|
NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn)
|
rs2491384090
|
|
|
NM_005458.8(GABBR2):c.205G>C (p.Ala69Pro)
|
rs1830932556
|
|
|
NM_005458.8(GABBR2):c.2107T>G (p.Cys703Gly)
|
rs2491207758
|
|
|
NM_005458.8(GABBR2):c.240C>A (p.Ala80=)
|
rs753673862
|
|
|
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup)
|
rs751111546
|
|
|
NM_005458.8(GABBR2):c.4G>A (p.Ala2Thr)
|
rs2490288912
|
|
|
NM_005458.8(GABBR2):c.52C>G (p.Pro18Ala)
|
rs1830937050
|
|
|
NM_005458.8(GABBR2):c.542C>A (p.Ala181Glu)
|
rs2490087010
|
|
|
NM_005465.7(AKT3):c.887G>A (p.Gly296Glu)
|
rs2148488208
|
|
|
NM_005475.3(SH2B3):c.676C>T (p.Arg226Trp)
|
rs940562223
|
|
|
NM_005476.7(GNE):c.1064A>C (p.Tyr355Ser)
|
rs2489680373
|
|
|
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro)
|
rs1554659760
|
|
|
NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)
|
rs1828922236
|
|
|
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn)
|
rs1828920194
|
|
|
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
|
rs2489809741
|
|
|
NM_005476.7(GNE):c.1204C>A (p.His402Asn)
|
rs1438694588
|
|
|
NM_005476.7(GNE):c.1259G>C (p.Arg420Pro)
|
rs780092539
|
|
|
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr)
|
rs1828910974
|
|
|
NM_005476.7(GNE):c.1352A>C (p.Gln451Pro)
|
rs1828698882
|
|
|
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)
|
rs1439999698
|
|
|
NM_005476.7(GNE):c.1546A>C (p.Asn516His)
|
rs1563930141
|
|
|
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
|
rs1175050208
|
|
|
NM_005476.7(GNE):c.1616C>T (p.Thr539Ile)
|
rs2489623191
|
|
|
NM_005476.7(GNE):c.1634G>A (p.Gly545Glu)
|
rs2489605433
|
|
|
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala)
|
rs1419793175
|
|
|
NM_005476.7(GNE):c.1703G>T (p.Gly568Val)
|
rs1419793175
|
|
|
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu)
|
rs1828512489
|
|
|
NM_005476.7(GNE):c.1772C>T (p.Ala591Val)
|
rs2489603667
|
|
|
NM_005476.7(GNE):c.182T>C (p.Ile61Thr)
|
rs1308966468
|
|
|
NM_005476.7(GNE):c.1943C>T (p.Ala648Val)
|
rs2489584488
|
|
|
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)
|
rs765173992
|
|
|
NM_005476.7(GNE):c.2063T>C (p.Leu688Ser)
|
rs1392550259
|
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
|
NM_005476.7(GNE):c.234AGA[1] (p.Glu79del)
|
rs2489790785
|
|
|
NM_005476.7(GNE):c.274C>A (p.Leu92Ile)
|
rs2489790286
|
|
|
NM_005476.7(GNE):c.302G>C (p.Arg101Pro)
|
rs144727134
|
|
|
NM_005476.7(GNE):c.317T>C (p.Ile106Thr)
|
rs773920008
|
|
|
NM_005476.7(GNE):c.377T>A (p.Met126Lys)
|
rs2489788924
|
|
|
NM_005476.7(GNE):c.469C>T (p.His157Tyr)
|
rs1587339749
|
|
|
NM_005476.7(GNE):c.490G>A (p.Ala164Thr)
|
rs2489786909
|
|
|
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
|
rs2489733690
|
|
|
NM_005476.7(GNE):c.853G>C (p.Asp285His)
|
rs2489716892
|
|
|
NM_005476.7(GNE):c.952C>G (p.Leu318Val)
|
rs1554661032
|
|
|
NM_005476.7(GNE):c.962G>A (p.Arg321His)
|
rs1234658537
|
|
|
NM_005477.3(HCN4):c.110C>A (p.Ala37Asp)
|
rs2043138879
|
|
|
NM_005477.3(HCN4):c.1931C>A (p.Thr644Asn)
|
rs2549069890
|
|
|
NM_005477.3(HCN4):c.2144-2A>G
|
rs2549069304
|
|
|
NM_005477.3(HCN4):c.3191_3217del (p.Gln1064_Pro1072del)
|
rs776487863
|
|
|
NM_005480.4(TROAP):c.1579T>A (p.Cys527Ser)
|
rs2547395806
|
|
|
NM_005515.4(MNX1):c.1055G>C (p.Arg352Thr)
|
rs988657656
|
|
|
NM_005529.7(HSPG2):c.1007A>C (p.His336Pro)
|
rs2550800655
|
|
|
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)
|
rs150666616
|
|
|
NM_005529.7(HSPG2):c.1028G>A (p.Arg343His)
|
rs748189648
|
|
|
NM_005529.7(HSPG2):c.1078C>T (p.Pro360Ser)
|
rs370772335
|
|
|
NM_005529.7(HSPG2):c.10896A>C (p.Arg3632=)
|
rs2550635006
|
|
|
NM_005529.7(HSPG2):c.11401T>A (p.Tyr3801Asn)
|
rs2550623315
|
|
|
NM_005529.7(HSPG2):c.11513C>T (p.Thr3838Met)
|
rs750376699
|
|
|
NM_005529.7(HSPG2):c.11552G>C (p.Arg3851Pro)
|
rs200682058
|
|
|
NM_005529.7(HSPG2):c.11606G>A (p.Cys3869Tyr)
|
rs2550621153
|
|
|
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)
|
rs145155624
|
|
|
NM_005529.7(HSPG2):c.11908G>C (p.Gly3970Arg)
|
rs762861100
|
|
|
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
|
rs139290729
|
|
|
NM_005529.7(HSPG2):c.12011G>A (p.Ser4004Asn)
|
rs2550610207
|
|
|
NM_005529.7(HSPG2):c.12166G>T (p.Gly4056Cys)
|
rs752313111
|
|
|
NM_005529.7(HSPG2):c.12211G>A (p.Ala4071Thr)
|
rs761160862
|
|
|
NM_005529.7(HSPG2):c.12676G>T (p.Val4226Leu)
|
rs760832004
|
|
|
NM_005529.7(HSPG2):c.12952C>T (p.Arg4318Trp)
|
rs3736358
|
|
|
NM_005529.7(HSPG2):c.12967A>T (p.Asn4323Tyr)
|
rs375607133
|
|
|
NM_005529.7(HSPG2):c.13094G>T (p.Arg4365Leu)
|
rs373773624
|
|
|
NM_005529.7(HSPG2):c.1404T>C (p.Asp468=)
|
rs2550793843
|
|
|
NM_005529.7(HSPG2):c.1771G>A (p.Val591Ile)
|
rs375066928
|
|
|
NM_005529.7(HSPG2):c.1771G>T (p.Val591Phe)
|
rs375066928
|
|
|
NM_005529.7(HSPG2):c.2036G>A (p.Arg679His)
|
rs766963773
|
|
|
NM_005529.7(HSPG2):c.2095A>C (p.Asn699His)
|
rs761748495
|
|
|
NM_005529.7(HSPG2):c.2176C>T (p.His726Tyr)
|
rs1641400723
|
|
|
NM_005529.7(HSPG2):c.2251C>G (p.Arg751Gly)
|
rs192500073
|
|
|
NM_005529.7(HSPG2):c.2755G>A (p.Asp919Asn)
|
rs752051085
|
|
|
NM_005529.7(HSPG2):c.2757T>A (p.Asp919Glu)
|
rs2550767501
|
|
|
NM_005529.7(HSPG2):c.3451C>T (p.Leu1151Phe)
|
rs2550760043
|
|
|
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg)
|
rs747787010
|
|
|
NM_005529.7(HSPG2):c.4283G>A (p.Ser1428Asn)
|
rs2550728318
|
|
|
NM_005529.7(HSPG2):c.4740G>A (p.Ser1580=)
|
rs2550721599
|
|
|
NM_005529.7(HSPG2):c.5405A>T (p.Tyr1802Phe)
|
rs2550698354
|
|
|
NM_005529.7(HSPG2):c.5408C>T (p.Thr1803Ile)
|
rs1457881757
|
|
|
NM_005529.7(HSPG2):c.5576C>T (p.Ala1859Val)
|
rs2550695673
|
|
|
NM_005529.7(HSPG2):c.5641C>A (p.Gln1881Lys)
|
rs1300829806
|
|
|
NM_005529.7(HSPG2):c.5857G>A (p.Gly1953Ser)
|
rs573835318
|
|
|
NM_005529.7(HSPG2):c.5917G>T (p.Val1973Phe)
|
rs145332480
|
|
|
NM_005529.7(HSPG2):c.6277C>T (p.Pro2093Ser)
|
rs1639188902
|
|
|
NM_005529.7(HSPG2):c.6831A>G (p.Thr2277=)
|
rs746413398
|
|
|
NM_005529.7(HSPG2):c.6892A>C (p.Ile2298Leu)
|
rs769821500
|
|
|
NM_005529.7(HSPG2):c.7031G>T (p.Arg2344Leu)
|
rs189021242
|
|
|
NM_005529.7(HSPG2):c.7087G>C (p.Val2363Leu)
|
rs529030554
|
|
|
NM_005529.7(HSPG2):c.7420G>C (p.Gly2474Arg)
|
rs761563926
|
|
|
NM_005529.7(HSPG2):c.7433C>G (p.Pro2478Arg)
|
rs377464593
|
|
|
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro)
|
rs149319607
|
|
|
NM_005529.7(HSPG2):c.7951T>G (p.Cys2651Gly)
|
rs1638561283
|
|
|
NM_005529.7(HSPG2):c.797C>T (p.Pro266Leu)
|
rs746839311
|
|
|
NM_005529.7(HSPG2):c.7993A>G (p.Lys2665Glu)
|
rs1411066912
|
|
|
NM_005529.7(HSPG2):c.8106C>G (p.Ile2702Met)
|
rs571975585
|
|
|
NM_005529.7(HSPG2):c.8241C>G (p.Asn2747Lys)
|
rs753706590
|
|
|
NM_005529.7(HSPG2):c.8449G>T (p.Ala2817Ser)
|
rs1017686610
|
|
|
NM_005529.7(HSPG2):c.8545G>A (p.Val2849Met)
|
rs147114700
|
|
|
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln)
|
rs111846397
|
|
|
NM_005529.7(HSPG2):c.9503C>G (p.Ala3168Gly)
|
rs538263312
|
|
|
NM_005529.7(HSPG2):c.9784A>G (p.Thr3262Ala)
|
rs2098040040
|
|
|
NM_005557.4(KRT16):c.905G>A (p.Arg302Lys)
|
rs771024552
|
|
|
NM_005559.4(LAMA1):c.242C>A (p.Pro81Gln)
|
rs2510109600
|
|
|
NM_005559.4(LAMA1):c.5873T>G (p.Leu1958Arg)
|
rs773649850
|
|
|
NM_005559.4(LAMA1):c.7430T>C (p.Val2477Ala)
|
rs2510827978
|
|
|
NM_005559.4(LAMA1):c.8282C>T (p.Ala2761Val)
|
rs1600341664
|
|
|
NM_005559.4(LAMA1):c.8825T>C (p.Leu2942Pro)
|
rs2510813753
|
|
|
NM_005560.6(LAMA5):c.6165+17A>T
|
rs2516017701
|
|
|
NM_005560.6(LAMA5):c.9967G>A (p.Ala3323Thr)
|
rs747595601
|
|
|
NM_005562.3(LAMC2):c.2921_2923del (p.Lys974del)
|
rs746672247
|
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
|
NM_005573.4(LMNB1):c.1114A>G (p.Met372Val)
|
rs1751798372
|
|
|
NM_005573.4(LMNB1):c.1364G>T (p.Arg455Leu)
|
rs773118659
|
|
|
NM_005573.4(LMNB1):c.1490C>T (p.Thr497Ile)
|
rs1275555028
|
|
|
NM_005573.4(LMNB1):c.164C>G (p.Thr55Arg)
|
rs2479404623
|
|
|
NM_005573.4(LMNB1):c.251C>T (p.Thr84Ile)
|
rs1288746906
|
|
|
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)
|
rs1208514129
|
|
|
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
|
rs766270982
|
|
|
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)
|
rs2545312590
|
|
|
NM_005585.5(SMAD6):c.818-1G>A
|
rs952876781
|
|
|
NM_005589.4(ALDH6A1):c.349-3T>C
|
rs2504612227
|
|
|
NM_005591.4(MRE11):c.1109G>C (p.Ser370Thr)
|
rs1343465167
|
|
|
NM_005591.4(MRE11):c.1201C>G (p.His401Asp)
|
rs876660542
|
|
|
NM_005591.4(MRE11):c.1609G>C (p.Ala537Pro)
|
rs587781839
|
|
|
NM_005591.4(MRE11):c.1616C>T (p.Ala539Val)
|
rs2496296769
|
|
|
NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala)
|
rs751657849
|
|
|
NM_005591.4(MRE11):c.309T>G (p.Phe103Leu)
|
rs1386290024
|
|
|
NM_005591.4(MRE11):c.377A>G (p.His126Arg)
|
rs2135090975
|
|
|
NM_005591.4(MRE11):c.888G>T (p.Met296Ile)
|
rs2135040323
|
|
|
NM_005591.4(MRE11):c.958A>G (p.Ile320Val)
|
rs762210984
|
|
|
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys)
|
rs368044285
|
|
|
NM_005592.4(MUSK):c.1478C>T (p.Ser493Phe)
|
rs779031081
|
|
|
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg)
|
rs928134595
|
|
|
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg)
|
rs369745938
|
|
|
NM_005592.4(MUSK):c.1757T>G (p.Phe586Cys)
|
rs771679900
|
|
|
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
|
rs2491153985
|
|
|
NM_005592.4(MUSK):c.1852G>A (p.Asp618Asn)
|
rs2491166765
|
|
|
NM_005592.4(MUSK):c.1882G>A (p.Ala628Thr)
|
rs776795823
|
|
|
NM_005592.4(MUSK):c.2003G>A (p.Arg668His)
|
rs777865246
|
|
|
NM_005592.4(MUSK):c.2251T>C (p.Tyr751His)
|
rs2491212068
|
|
|
NM_005592.4(MUSK):c.2269A>C (p.Lys757Gln)
|
rs2078078950
|
|
|
NM_005592.4(MUSK):c.2356T>C (p.Trp786Arg)
|
rs2078081932
|
|
|
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)
|
rs1057518966
|
|
|
NM_005592.4(MUSK):c.2388C>G (p.Phe796Leu)
|
rs778487184
|
|
|
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)
|
rs2078085499
|
|
|
NM_005592.4(MUSK):c.2520C>G (p.Ser840Arg)
|
rs768074747
|
|
|
NM_005592.4(MUSK):c.2584A>G (p.Arg862Gly)
|
rs2491215535
|
|
|
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln)
|
rs753484236
|
|
|
NM_005609.4(PYGM):c.1093-3C>T
|
rs2058377505
|
|
|
NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile)
|
rs1318866113
|
|
|
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val)
|
rs2058375350
|
|
|
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys)
|
rs369313102
|
|
|
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala)
|
rs1419658107
|
|
|
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile)
|
rs1374947591
|
|
|
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu)
|
rs1007363915
|
|
|
NM_005609.4(PYGM):c.222C>G (p.His74Gln)
|
rs2496674881
|
|
|
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe)
|
rs1449944847
|
|
|
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly)
|
rs369382075
|
|
|
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)
|
rs747567834
|
|
|
NM_005609.4(PYGM):c.253T>C (p.Tyr85His)
|
rs373310140
|
|
|
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser)
|
rs1246112610
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
|
NM_005609.4(PYGM):c.424+4A>G
|
rs2496670707
|
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
|
NM_005609.4(PYGM):c.535G>C (p.Glu179Gln)
|
rs772653455
|
|
|
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro)
|
rs1555135785
|
|
|
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
|
rs758682386
|
|
|
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln)
|
rs2496661348
|
|
|
NM_005618.4(DLL1):c.140G>A (p.Gly47Glu)
|
rs1420409055
|
|
|
NM_005618.4(DLL1):c.2131T>C (p.Ser711Pro)
|
rs376347132
|
|
|
NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)
|
rs1039418305
|
|
|
NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)
|
rs2513740297
|
|
|
NM_005630.3(SLCO2A1):c.234+5G>A
|
rs377284861
|
|
|
NM_005631.5(SMO):c.1798G>A (p.Val600Met)
|
rs767352128
|
|
|
NM_005633.4(SOS1):c.1426G>A (p.Gly476Arg)
|
rs2529037253
|
|
|
NM_005633.4(SOS1):c.2245G>A (p.Gly749Ser)
|
rs2528992767
|
|
|
NM_005633.4(SOS1):c.3539C>T (p.Pro1180Leu)
|
rs1668559189
|
|
|
NM_005633.4(SOS1):c.3758C>T (p.Pro1253Leu)
|
rs772527384
|
|
|
NM_005633.4(SOS1):c.3958C>G (p.His1320Asp)
|
rs2528868942
|
|
|
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr)
|
rs397517176
|
|
|
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
|
rs1671005154
|
|
|
NM_005633.4(SOS1):c.914C>G (p.Pro305Arg)
|
rs2529092970
|
|
|
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)
|
rs112180170
|
|
|
NM_005634.3(SOX3):c.729_731dup (p.Ala248dup)
|
rs763403187
|
|
|
NM_005639.3(SYT1):c.520A>G (p.Met174Val)
|
rs2547658346
|
|
|
NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met)
|
rs776732958
|
|
|
NM_005654.6(NR2F1):c.173C>A (p.Pro58His)
|
rs2480801728
|
|
|
NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter)
|
rs2480808700
|
|
|
NM_005654.6(NR2F1):c.99C>A (p.Gly33=)
|
rs2480801172
|
|
|
NM_005664.4(MKRN3):c.-81C>T
|
rs983480863
|
|
|
NM_005676.5(RBM10):c.856G>A (p.Ala286Thr)
|
rs2147169182
|
|
|
NM_005676.5(RBM10):c.995G>A (p.Arg332His)
|
rs2147173629
|
|
|
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met)
|
rs73818504
|
|
|
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe)
|
rs1310878358
|
|
|
NM_005677.4(COLQ):c.683G>T (p.Gly228Val)
|
rs887439426
|
|
|
NM_005677.4(COLQ):c.717+4A>C
|
rs201550931
|
|
|
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser)
|
rs2063138065
|
|
|
NM_005681.4(TAF1A):c.967GAA[1] (p.Glu324del)
|
rs759862116
|
|
|
NM_005689.4(ABCB6):c.659A>T (p.Glu220Val)
|
rs142256852
|
|
|
NM_005726.6(TSFM):c.321T>G (p.Ile107Met)
|
rs1253596799
|
|
|
NM_005732.4(RAD50):c.2452G>A (p.Gly818Arg)
|
rs780431635
|
|
|
NM_005732.4(RAD50):c.3055C>G (p.Gln1019Glu)
|
rs1233081327
|
|
|
NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=)
|
rs758236336
|
|
|
NM_005751.5(AKAP9):c.5669C>A (p.Thr1890Lys)
|
rs760613621
|
|
|
NM_005751.5(AKAP9):c.8458A>G (p.Ile2820Val)
|
rs1410523189
|
|
|
NM_005816.5(CD96):c.934del (p.Asp312fs)
|
rs1937457440
|
|
|
NM_005826.5(HNRNPR):c.1289C>T (p.Ala430Val)
|
rs180897497
|
|
|
NM_005862.3(STAG1):c.2038-5dup
|
rs748993808
|
|
|
NM_005862.3(STAG1):c.2061C>T (p.Asp687=)
|
rs1559790969
|
|
|
NM_005862.3(STAG1):c.254T>C (p.Val85Ala)
|
rs2472679119
|
|
|
NM_005876.5(SPEG):c.1625C>A (p.Pro542His)
|
rs927960851
|
|
|
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
|
rs1365650391
|
|
|
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp)
|
rs570323054
|
|
|
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala)
|
rs200713879
|
|
|
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
|
rs1326623898
|
|
|
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
|
rs995692614
|
|
|
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys)
|
rs587777672
|
|
|
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu)
|
rs2125558050
|
|
|
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
|
rs1274718760
|
|
|
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
|
rs749373078
|
|
|
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
|
rs2545997866
|
|
|
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
|
rs1468339574
|
|
|
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
|
rs2546024033
|
|
|
NM_005879.3(TRAIP):c.868C>A (p.Arg290Ser)
|
rs201373472
|
|
|
NM_005883.3(APC2):c.2392_2395dup (p.Pro799fs)
|
rs2512514915
|
|
|
NM_005883.3(APC2):c.4402C>T (p.Pro1468Ser)
|
rs1457361734
|
|
|
NM_005883.3(APC2):c.4660G>C (p.Ala1554Pro)
|
rs765175644
|
|
|
NM_005886.3(KATNB1):c.1208T>A (p.Phe403Tyr)
|
rs782067668
|
|
|
NM_005886.3(KATNB1):c.1357_1358delinsTT (p.Ala453Phe)
|
rs2543425327
|
|
|
NM_005886.3(KATNB1):c.904C>A (p.Leu302Met)
|
rs782568681
|
|
|
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
|
rs2496097769
|
|
|
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val)
|
rs2144300734
|
|
|
NM_005909.5(MAP1B):c.1591A>G (p.Lys531Glu)
|
rs2478568878
|
|
|
NM_005909.5(MAP1B):c.381G>A (p.Met127Ile)
|
rs2478549451
|
|
|
NM_005909.5(MAP1B):c.3962T>A (p.Val1321Glu)
|
rs749890869
|
|
|
NM_005915.6(MCM6):c.1798C>T (p.His600Tyr)
|
rs756704164
|
|
|
NM_005915.6(MCM6):c.1855C>T (p.Arg619Ter)
|
rs945901290
|
|
|
NM_005918.4(MDH2):c.704C>G (p.Thr235Arg)
|
rs368008244
|
|
|
NM_005918.4(MDH2):c.817G>A (p.Val273Met)
|
rs1798053692
|
|
|
NM_005928.4(MFGE8):c.721A>C (p.Ile241Leu)
|
rs2505507501
|
|
|
NM_005956.4(MTHFD1):c.881T>C (p.Phe294Ser)
|
rs2550501114
|
|
|
NM_005957.5(MTHFR):c.1616A>G (p.His539Arg)
|
rs2522833573
|
|
|
NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys)
|
rs926280775
|
|
|
NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr)
|
rs756165045
|
|
|
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)
|
rs1056919085
|
|
|
NM_005984.5(SLC25A1):c.514G>A (p.Val172Met)
|
rs2517252395
|
|
|
NM_005984.5(SLC25A1):c.686T>A (p.Ile229Asn)
|
rs146543999
|
|
|
NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del)
|
rs2536060311
|
|
|
NM_005993.5(TBCD):c.1604A>C (p.Asp535Ala)
|
rs2510182547
|
|
|
NM_005993.5(TBCD):c.2701_2718dup (p.Val906_Ala907insArgIleMetCysCysVal)
|
rs2510757565
|
|
|
NM_005993.5(TBCD):c.2804C>G (p.Pro935Arg)
|
rs771721082
|
|
|
NM_005993.5(TBCD):c.3121G>A (p.Val1041Met)
|
rs767059052
|
|
|
NM_005993.5(TBCD):c.3483C>T (p.Asp1161=)
|
rs368808896
|
|
|
NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg)
|
rs763637343
|
|
|
NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val)
|
rs766703407
|
|
|
NM_006005.3(WFS1):c.-6+1824G>C
|
rs79944860
|
|
|
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)
|
rs201282601
|
|
|
NM_006005.3(WFS1):c.2542C>T (p.Leu848Phe)
|
rs2109127786
|
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
|
NM_006009.4(TUBA1A):c.547G>A (p.Glu183Lys)
|
rs2498860902
|
|
|
NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)
|
rs2124740723
|
|
|
NM_006015.6(ARID1A):c.2988+3A>T
|
rs2124082310
|
|
|
NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)
|
rs374564889
|
|
|
NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)
|
rs779806180
|
|
|
NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys)
|
rs768023738
|
|
|
NM_006015.6(ARID1A):c.4874T>C (p.Ile1625Thr)
|
rs764864466
|
|
|
NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)
|
rs2124742144
|
|
|
NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)
|
rs748000514
|
|
|
NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)
|
rs773489918
|
|
|
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
|
rs775902505
|
|
|
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)
|
rs372690969
|
|
|
NM_006030.4(CACNA2D2):c.1357C>T (p.Pro453Ser)
|
rs2471025515
|
|
|
NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)
|
rs142877499
|
|
|
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
|
rs2519184180
|
|
|
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr)
|
rs886057179
|
|
|
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met)
|
rs770226991
|
|
|
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
|
rs2518971689
|
|
|
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
|
rs2519010379
|
|
|
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
|
rs138097697
|
|
|
NM_006035.4(CDC42BPB):c.1585_1593del (p.Arg529_Leu531del)
|
rs774881145
|
|
|
NM_006035.4(CDC42BPB):c.3451G>A (p.Asp1151Asn)
|
rs2542778445
|
|
|
NM_006035.4(CDC42BPB):c.5101C>G (p.Leu1701Val)
|
rs140640502
|
|
|
NM_006035.4(CDC42BPB):c.675G>A (p.Met225Ile)
|
rs1313733252
|
|
|
NM_006059.4(LAMC3):c.4663G>A (p.Ala1555Thr)
|
rs760004873
|
|
|
NM_006060.6(IKZF1):c.589+1G>A
|
rs1435621658
|
|
|
NM_006070.6(TFG):c.290T>C (p.Leu97Pro)
|
rs1576366321
|
|
|
NM_006070.6(TFG):c.547T>C (p.Ser183Pro)
|
rs2095094918
|
|
|
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)
|
rs1364039811
|
|
|
NM_006078.5(CACNG2):c.136A>C (p.Ser46Arg)
|
rs768541051
|
|
|
NM_006079.5(CITED2):c.421G>A (p.Ala141Thr)
|
rs1562314633
|
|
|
NM_006079.5(CITED2):c.694G>A (p.Val232Met)
|
rs2482756744
|
|
|
NM_006086.4(TUBB3):c.580G>A (p.Glu194Lys)
|
rs2544627419
|
|
|
NM_006087.4(TUBB4A):c.464_465insGAGT (p.Ile155fs)
|
rs1160028307
|
|
|
NM_006087.4(TUBB4A):c.537G>A (p.Val179=)
|
rs2512754415
|
|
|
NM_006121.4(KRT1):c.1307C>A (p.Ala436Asp)
|
rs1184058811
|
|
|
NM_006121.4(KRT1):c.1378C>T (p.Arg460Cys)
|
rs756735090
|
|
|
NM_006121.4(KRT1):c.1666_1687delinsA (p.Gly556_Gly563delinsSer)
|
rs2498630125
|
|
|
NM_006129.5(BMP1):c.1184G>T (p.Arg395Leu)
|
rs375380551
|
|
|
NM_006158.5(NEFL):c.370G>A (p.Val124Met)
|
rs2486887667
|
|
|
NM_006160.4(NEUROD2):c.742G>A (p.Gly248Ser)
|
rs2545858086
|
|
|
NM_006160.4(NEUROD2):c.905C>A (p.Pro302Gln)
|
rs772966261
|
|
|
NM_006160.4(NEUROD2):c.914T>G (p.Leu305Arg)
|
rs1287198574
|
|
|
NM_006180.6(NTRK2):c.1387G>A (p.Gly463Ser)
|
rs2493109626
|
|
|
NM_006180.6(NTRK2):c.2483A>C (p.Lys828Thr)
|
rs2118018102
|
|
|
NM_006182.4(DDR2):c.310G>C (p.Gly104Arg)
|
rs1663374009
|
|
|
NM_006186.4(NR4A2):c.899T>C (p.Leu300Ser)
|
rs1686759342
|
|
|
NM_006197.4(PCM1):c.4996A>C (p.Lys1666Gln)
|
rs767998105
|
|
|
NM_006206.6(PDGFRA):c.2429C>G (p.Ala810Gly)
|
rs2110336129
|
|
|
NM_006206.6(PDGFRA):c.577G>A (p.Val193Ile)
|
rs774431464
|
|
|
NM_006208.3(ENPP1):c.713T>C (p.Leu238Pro)
|
rs1255448053
|
|
|
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu)
|
rs147438050
|
|
|
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg)
|
rs867677414
|
|
|
NM_006231.4(POLE):c.3306G>C (p.Glu1102Asp)
|
rs765574111
|
|
|
NM_006231.4(POLE):c.38C>T (p.Pro13Leu)
|
rs878854865
|
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
|
NM_006231.4(POLE):c.5090AGG[1] (p.Glu1698del)
|
rs1555222471
|
|
|
NM_006231.4(POLE):c.5854A>C (p.Asn1952His)
|
rs2041993956
|
|
|
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg)
|
rs1462887616
|
|
|
NM_006231.4(POLE):c.6578C>G (p.Pro2193Arg)
|
rs2138428145
|
|
|
NM_006236.3(POU3F3):c.309CGC[9] (p.Ala115_Val116insAlaAla)
|
rs754300848
|
|
|
NM_006236.3(POU3F3):c.536C>T (p.Pro179Leu)
|
rs1181582242
|
|
|
NM_006236.3(POU3F3):c.848C>G (p.Pro283Arg)
|
rs1395009622
|
|
|
NM_006236.3(POU3F3):c.853C>T (p.Pro285Ser)
|
rs2466876280
|
|
|
NM_006245.4(PPP2R5D):c.168C>A (p.Asn56Lys)
|
rs745843787
|
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
|
NM_006258.4(PRKG1):c.319G>C (p.Asp107His)
|
rs751916382
|
|
|
NM_006262.4(PRPH):c.192AGCGGG[3] (p.Ala69_Leu70insGlyAla)
|
rs779411588
|
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
|
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)
|
rs2537297697
|
|
|
NM_006267.5(RANBP2):c.7660A>C (p.Lys2554Gln)
|
rs535669028
|
|
|
NM_006268.5(DPF2):c.203C>A (p.Ser68Tyr)
|
rs2495389862
|
|
|
NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)
|
rs776722476
|
|
|
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
|
rs767490081
|
|
|
NM_006279.5(ST3GAL3):c.-30-12556T>G
|
rs533413663
|
|
|
NM_006279.5(ST3GAL3):c.-31+9864G>A
|
rs868470605
|
|
|
NM_006279.5(ST3GAL3):c.209+5G>A
|
rs2549630280
|
|
|
NM_006280.3(SSR4):c.417+1G>A
|
rs1057518735
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
|
NM_006302.3(MOGS):c.170T>C (p.Met57Thr)
|
rs1672029667
|
|
|
NM_006306.4(SMC1A):c.1114-3C>T
|
rs1556890570
|
|
|
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
|
rs2520929027
|
|
|
NM_006307.5(SRPX):c.59_62delinsC (p.Leu20_Leu21delinsPro)
|
rs2519724695
|
|
|
NM_006329.4(FBLN5):c.646C>G (p.Pro216Ala)
|
rs147365284
|
|
|
NM_006361.6(HOXB13):c.773G>A (p.Arg258His)
|
rs367732101
|
|
|
NM_006361.6(HOXB13):c.95C>A (p.Pro32His)
|
rs2143075154
|
|
|
NM_006363.6(SEC23B):c.1198T>G (p.Phe400Val)
|
rs142461689
|
|
|
NM_006363.6(SEC23B):c.1726T>G (p.Phe576Val)
|
rs2517508282
|
|
|
NM_006363.6(SEC23B):c.1791C>G (p.Asn597Lys)
|
rs767618695
|
|
|
NM_006363.6(SEC23B):c.1810T>C (p.Tyr604His)
|
rs2517512938
|
|
|
NM_006363.6(SEC23B):c.2074G>A (p.Asp692Asn)
|
rs2517521935
|
|
|
NM_006363.6(SEC23B):c.652C>A (p.Pro218Thr)
|
rs2517472156
|
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
|
NM_006363.6(SEC23B):c.800G>T (p.Gly267Val)
|
rs754057624
|
|
|
NM_006363.6(SEC23B):c.875C>T (p.Thr292Ile)
|
rs2517475190
|
|
|
NM_006364.4(SEC23A):c.440T>C (p.Leu147Pro)
|
rs771931655
|
|
|
NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe)
|
rs768012717
|
|
|
NM_006421.5(ARFGEF1):c.1118A>G (p.Asn373Ser)
|
rs760320186
|
|
|
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
|
rs2543763265
|
|
|
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
|
rs2543717690
|
|
|
NM_006446.5(SLCO1B1):c.1280T>G (p.Phe427Cys)
|
rs1941171798
|
|
|
NM_006446.5(SLCO1B1):c.1998T>A (p.Asp666Glu)
|
rs1941623092
|
|
|
NM_006446.5(SLCO1B1):c.284del (p.Lys95fs)
|
rs2498171367
|
|
|
NM_006446.5(SLCO1B1):c.373A>G (p.Lys125Glu)
|
rs1940825633
|
|
|
NM_006446.5(SLCO1B1):c.858A>G (p.Pro286=)
|
rs2498210607
|
|
|
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)
|
rs540811599
|
|
|
NM_006493.4(CLN5):c.173+5G>A
|
rs2034192763
|
|
|
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)
|
rs376336781
|
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
|
NM_006514.4(SCN10A):c.2656A>G (p.Ile886Val)
|
rs2063465062
|
|
|
NM_006514.4(SCN10A):c.2962A>T (p.Ile988Phe)
|
rs1559426077
|
|
|
NM_006514.4(SCN10A):c.5587C>G (p.Arg1863Gly)
|
rs370779258
|
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
rs2524982307
|
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
|
NM_006516.4(SLC2A1):c.265C>T (p.Arg89Cys)
|
rs961569873
|
|
|
NM_006516.4(SLC2A1):c.37A>C (p.Met13Leu)
|
rs774411009
|
|
|
NM_006516.4(SLC2A1):c.43G>T (p.Ala15Ser)
|
rs1393626431
|
|
|
NM_006516.4(SLC2A1):c.952A>G (p.Thr318Ala)
|
rs2524989922
|
|
|
NM_006516.4(SLC2A1):c.973-3C>T
|
rs2524989175
|
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
|
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
|
rs2519806604
|
|
|
NM_006545.5(NPRL2):c.684-12TC[3]
|
rs749481228
|
|
|
NM_006545.5(NPRL2):c.743C>T (p.Thr248Met)
|
rs779257186
|
|
|
NM_006545.5(NPRL2):c.911A>C (p.Gln304Pro)
|
rs1703622345
|
|
|
NM_006565.4(CTCF):c.216G>T (p.Gln72His)
|
rs1413142440
|
|
|
NM_006565.4(CTCF):c.583C>G (p.Pro195Ala)
|
rs2543449162
|
|
|
NM_006567.5(FARS2):c.955C>T (p.Leu319=)
|
rs772822506
|
|
|
NM_006576.4(AVIL):c.2250T>A (p.Asn750Lys)
|
rs2540974411
|
|
|
NM_006576.4(AVIL):c.66+9G>A
|
rs2541014449
|
|
|
NM_006576.4(AVIL):c.812dup (p.Leu272fs)
|
rs2541001864
|
|
|
NM_006579.3(EBP):c.292T>C (p.Ser98Pro)
|
rs2519522422
|
|
|
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)
|
rs104893726
|
|
|
NM_006586.5(CNPY3):c.275+1G>A
|
rs1768080171
|
|
|
NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln)
|
rs2468095250
|
|
|
NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg)
|
rs1684270255
|
|
|
NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)
|
rs2468090338
|
|
|
NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)
|
rs2468090382
|
|
|
NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)
|
rs1187510537
|
|
|
NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs)
|
rs2521403568
|
|
|
NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)
|
rs1655398720
|
|
|
NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)
|
rs2527463291
|
|
|
NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)
|
rs2527452016
|
|
|
NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)
|
rs1654807588
|
|
|
NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)
|
rs2527596624
|
|
|
NM_006623.4(PHGDH):c.638C>A (p.Thr213Lys)
|
rs772598618
|
|
|
NM_006662.3(SRCAP):c.1402G>C (p.Asp468His)
|
rs2506628198
|
|
|
NM_006662.3(SRCAP):c.1507C>G (p.Arg503Gly)
|
rs142287264
|
|
|
NM_006662.3(SRCAP):c.2272C>T (p.Arg758Cys)
|
rs2052912253
|
|
|
NM_006662.3(SRCAP):c.3720C>A (p.His1240Gln)
|
rs915047542
|
|
|
NM_006662.3(SRCAP):c.3906G>C (p.Met1302Ile)
|
rs764557606
|
|
|
NM_006662.3(SRCAP):c.4007C>T (p.Ser1336Phe)
|
rs757794039
|
|
|
NM_006662.3(SRCAP):c.4927G>A (p.Ala1643Thr)
|
rs2506680641
|
|
|
NM_006662.3(SRCAP):c.4951C>T (p.Pro1651Ser)
|
rs2053041782
|
|
|
NM_006662.3(SRCAP):c.5326T>C (p.Ser1776Pro)
|
rs2506682552
|
|
|
NM_006662.3(SRCAP):c.5956C>T (p.Pro1986Ser)
|
rs2053092537
|
|
|
NM_006662.3(SRCAP):c.77G>A (p.Gly26Asp)
|
rs2052799415
|
|
|
NM_006662.3(SRCAP):c.8048C>T (p.Pro2683Leu)
|
rs1156925271
|
|
|
NM_006662.3(SRCAP):c.8129C>T (p.Ser2710Leu)
|
rs766023031
|
|
|
NM_006662.3(SRCAP):c.8204C>G (p.Thr2735Ser)
|
rs1422768403
|
|
|
NM_006662.3(SRCAP):c.8209C>G (p.Arg2737Gly)
|
rs770652502
|
|
|
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp)
|
rs1131691316
|
|
|
NM_006662.3(SRCAP):c.9105C>G (p.Ser3035Arg)
|
rs770456283
|
|
|
NM_006734.4(HIVEP2):c.1131A>C (p.Lys377Asn)
|
rs2482850843
|
|
|
NM_006734.4(HIVEP2):c.1214A>G (p.Glu405Gly)
|
rs2482850285
|
|
|
NM_006734.4(HIVEP2):c.1315A>C (p.Ser439Arg)
|
rs1488351985
|
|
|
NM_006734.4(HIVEP2):c.1977G>T (p.Arg659Ser)
|
rs777133298
|
|
|
NM_006734.4(HIVEP2):c.2173G>C (p.Ala725Pro)
|
rs2482841497
|
|
|
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu)
|
rs2482857854
|
|
|
NM_006734.4(HIVEP2):c.3050C>G (p.Ser1017Cys)
|
rs1334253551
|
|
|
NM_006734.4(HIVEP2):c.6197C>T (p.Pro2066Leu)
|
rs2482768460
|
|
|
NM_006734.4(HIVEP2):c.6266C>T (p.Ser2089Leu)
|
rs2482767865
|
|
|
NM_006734.4(HIVEP2):c.6486G>C (p.Leu2162Phe)
|
rs1473239541
|
|
|
NM_006734.4(HIVEP2):c.6517-5C>A
|
rs145543866
|
|
|
NM_006734.4(HIVEP2):c.6769A>G (p.Met2257Val)
|
rs760534161
|
|
|
NM_006734.4(HIVEP2):c.7019C>T (p.Thr2340Met)
|
rs374181802
|
|
|
NM_006734.4(HIVEP2):c.7056G>A (p.Ala2352=)
|
rs761746694
|
|
|
NM_006734.4(HIVEP2):c.987T>G (p.Ile329Met)
|
rs1775618737
|
|
|
NM_006736.6(DNAJB2):c.65+5G>T
|
rs2545027147
|
|
|
NM_006755.2(TALDO1):c.568G>T (p.Val190Phe)
|
rs1025695642
|
|
|
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
|
rs749336367
|
|
|
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)
|
rs1824096793
|
|
|
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)
|
rs200263669
|
|
|
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)
|
rs2486763344
|
|
|
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe)
|
rs978156504
|
|
|
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)
|
rs2486755073
|
|
|
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)
|
rs1821683698
|
|
|
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)
|
rs2486754197
|
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
|
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)
|
rs751096264
|
|
|
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)
|
rs1821663767
|
|
|
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
|
rs200651017
|
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
|
NM_006767.4(LZTR1):c.1261-3C>G
|
rs770882185
|
|
|
NM_006767.4(LZTR1):c.1354-3C>A
|
rs771602353
|
|
|
NM_006767.4(LZTR1):c.1666A>G (p.Ser556Gly)
|
rs1199603159
|
|
|
NM_006767.4(LZTR1):c.1886T>C (p.Val629Ala)
|
rs1924776606
|
|
|
NM_006767.4(LZTR1):c.355T>G (p.Tyr119Asp)
|
rs2518612492
|
|
|
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu)
|
rs781431741
|
|
|
NM_006767.4(LZTR1):c.859C>T (p.His287Tyr)
|
rs2518617109
|
|
|
NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser)
|
rs1776862933
|
|
|
NM_006772.3(SYNGAP1):c.2594_2602del (p.Ala865_Gly867del)
|
rs2537446458
|
|
|
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val)
|
rs2151188913
|
|
|
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser)
|
rs1561789701
|
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
|
NM_006772.3(SYNGAP1):c.453C>A (p.Asp151Glu)
|
rs2537351861
|
|
|
NM_006772.3(SYNGAP1):c.67+3A>C
|
rs2537261088
|
|
|
NM_006772.3(SYNGAP1):c.791T>A (p.Leu264Gln)
|
rs2537389077
|
|
|
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
|
rs755615381
|
|
|
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
|
rs774308558
|
|
|
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)
|
rs145427063
|
|
|
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)
|
rs748921791
|
|
|
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)
|
rs2149978850
|
|
|
NM_006790.3(MYOT):c.170del (p.Thr57fs)
|
rs2531991174
|
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
|
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
|
rs982468554
|
|
|
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
|
rs2531999652
|
|
|
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
|
rs137952692
|
|
|
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
|
rs370165036
|
|
|
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)
|
rs1561660796
|
|
|
NM_006790.3(MYOT):c.680_683del (p.Val227fs)
|
rs775014749
|
|
|
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn)
|
rs2143171648
|
|
|
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)
|
rs375098002
|
|
|
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val)
|
rs866272063
|
|
|
NM_006796.3(AFG3L2):c.869G>A (p.Ser290Asn)
|
rs534930122
|
|
|
NM_006831.3(CLP1):c.293C>G (p.Thr98Arg)
|
rs139859258
|
|
|
NM_006852.6(TLK2):c.1310A>G (p.Asn437Ser)
|
rs2545795445
|
|
|
NM_006852.6(TLK2):c.1511T>G (p.Ile504Arg)
|
rs2545971109
|
|
|
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
|
rs540890052
|
|
|
NM_006892.4(DNMT3B):c.178G>A (p.Val60Met)
|
rs2515462467
|
|
|
NM_006892.4(DNMT3B):c.2291G>A (p.Arg764Lys)
|
rs1470720257
|
|
|
NM_006904.7(PRKDC):c.2560A>G (p.Arg854Gly)
|
rs1175305155
|
|
|
NM_006904.7(PRKDC):c.4882A>T (p.Lys1628Ter)
|
rs2551872705
|
|
|
NM_006907.4(PYCR1):c.103C>T (p.Pro35Ser)
|
rs553351836
|
|
|
NM_006907.4(PYCR1):c.7G>T (p.Val3Leu)
|
rs897329315
|
|
|
NM_006908.5(RAC1):c.170A>C (p.Asp57Ala)
|
rs2534029543
|
|
|
NM_006908.5(RAC1):c.478C>G (p.Leu160Val)
|
rs2534048828
|
|
|
NM_006915.3(RP2):c.496A>G (p.Ile166Val)
|
rs782510902
|
|
|
NM_006922.4(SCN3A):c.1267G>A (p.Val423Met)
|
rs1688901607
|
|
|
NM_006922.4(SCN3A):c.138G>T (p.Glu46Asp)
|
rs2468565328
|
|
|
NM_006922.4(SCN3A):c.145C>T (p.Pro49Ser)
|
rs2105924636
|
|
|
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val)
|
rs764003738
|
|
|
NM_006922.4(SCN3A):c.20T>C (p.Val7Ala)
|
rs1690467978
|
|
|
NM_006922.4(SCN3A):c.2748TGA[1] (p.Asp918del)
|
rs2468251166
|
|
|
NM_006922.4(SCN3A):c.2977G>T (p.Ala993Ser)
|
rs2105764064
|
|
|
NM_006922.4(SCN3A):c.3494C>A (p.Pro1165Gln)
|
rs563038965
|
|
|
NM_006922.4(SCN3A):c.3860T>C (p.Leu1287Pro)
|
rs2468088096
|
|
|
NM_006922.4(SCN3A):c.4127G>C (p.Ser1376Thr)
|
rs2468071626
|
|
|
NM_006922.4(SCN3A):c.4380G>C (p.Leu1460=)
|
rs749863085
|
|
|
NM_006922.4(SCN3A):c.4438G>A (p.Gly1480Ser)
|
rs2468055432
|
|
|
NM_006922.4(SCN3A):c.478A>G (p.Thr160Ala)
|
rs2468493570
|
|
|
NM_006922.4(SCN3A):c.5152A>T (p.Ile1718Phe)
|
rs764222987
|
|
|
NM_006922.4(SCN3A):c.5596G>C (p.Glu1866Gln)
|
rs1553517114
|
|
|
NM_006922.4(SCN3A):c.920A>T (p.Asn307Ile)
|
rs769845100
|
|
|
NM_006939.4(SOS2):c.1024C>A (p.Leu342Met)
|
rs1033098930
|
|
|
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)
|
rs765776650
|
|
|
NM_006939.4(SOS2):c.1160G>A (p.Arg387Gln)
|
rs2503002190
|
|
|
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
|
rs2502991376
|
|
|
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val)
|
rs886268693
|
|
|
NM_006939.4(SOS2):c.2281T>C (p.Trp761Arg)
|
rs745497052
|
|
|
NM_006939.4(SOS2):c.3540TCC[2] (p.Pro1183del)
|
rs765097073
|
|
|
NM_006939.4(SOS2):c.87+1G>T
|
rs1481044174
|
|
|
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
|
rs2548149160
|
|
|
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser)
|
rs764767423
|
|
|
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
|
rs2547717161
|
|
|
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
|
rs2498148753
|
|
|
NM_006941.4(SOX10):c.181G>A (p.Gly61Ser)
|
rs866240813
|
|
|
NM_006941.4(SOX10):c.327C>A (p.Asn109Lys)
|
rs1237217031
|
|
|
NM_006946.4(SPTBN2):c.2844C>A (p.Asp948Glu)
|
rs753959566
|
|
|
NM_006946.4(SPTBN2):c.3091G>T (p.Ala1031Ser)
|
rs138735919
|
|
|
NM_006946.4(SPTBN2):c.4643G>T (p.Arg1548Met)
|
rs2495962472
|
|
|
NM_006946.4(SPTBN2):c.4999A>G (p.Ile1667Val)
|
rs1210330344
|
|
|
NM_006946.4(SPTBN2):c.5000T>G (p.Ile1667Ser)
|
rs2495936249
|
|
|
NM_006946.4(SPTBN2):c.5734T>C (p.Phe1912Leu)
|
rs2495855031
|
|
|
NM_006949.4(STXBP2):c.1538+12G>C
|
rs748313252
|
|
|
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)
|
rs1599397070
|
|
|
NM_006950.3(SYN1):c.1174A>C (p.Met392Leu)
|
rs2519685955
|
|
|
NM_006950.3(SYN1):c.1731C>T (p.Ala577=)
|
rs2147912133
|
|
|
NM_006950.3(SYN1):c.337T>G (p.Ser113Ala)
|
rs2519712151
|
|
|
NM_006950.3(SYN1):c.808A>G (p.Met270Val)
|
rs2057781488
|
|
|
NM_007055.4(POLR3A):c.1109C>T (p.Ser370Leu)
|
rs1298808842
|
|
|
NM_007055.4(POLR3A):c.2055G>C (p.Arg685Ser)
|
rs752641440
|
|
|
NM_007055.4(POLR3A):c.2360-6C>T
|
rs770834190
|
|
|
NM_007055.4(POLR3A):c.645G>A (p.Gln215=)
|
rs2493242170
|
|
|
NM_007078.3(LDB3):c.145G>A (p.Val49Met)
|
rs200645175
|
|
|
NM_007078.3(LDB3):c.145G>C (p.Val49Leu)
|
rs200645175
|
|
|
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg)
|
rs777413488
|
|
|
NM_007118.4(TRIO):c.1013A>G (p.Gln338Arg)
|
rs2152285212
|
|
|
NM_007118.4(TRIO):c.1226T>C (p.Val409Ala)
|
rs951795219
|
|
|
NM_007118.4(TRIO):c.1325C>T (p.Thr442Ile)
|
rs2532179141
|
|
|
NM_007118.4(TRIO):c.1826G>T (p.Arg609Leu)
|
rs1479463486
|
|
|
NM_007118.4(TRIO):c.22GCC[4] (p.Ala10_Pro11insAla)
|
rs1200482117
|
|
|
NM_007118.4(TRIO):c.2618A>G (p.Asp873Gly)
|
rs2532655528
|
|
|
NM_007118.4(TRIO):c.3373C>T (p.His1125Tyr)
|
rs2532768633
|
|
|
NM_007118.4(TRIO):c.365G>A (p.Arg122His)
|
rs774892381
|
|
|
NM_007118.4(TRIO):c.3716G>A (p.Arg1239Lys)
|
rs2152361600
|
|
|
NM_007118.4(TRIO):c.4206G>A (p.Gly1402=)
|
rs767495419
|
|
|
NM_007118.4(TRIO):c.4280A>G (p.Gln1427Arg)
|
rs2532920027
|
|
|
NM_007118.4(TRIO):c.4426T>A (p.Phe1476Ile)
|
rs2532963187
|
|
|
NM_007118.4(TRIO):c.4717G>T (p.Ala1573Ser)
|
rs2533041842
|
|
|
NM_007118.4(TRIO):c.5150G>C (p.Cys1717Ser)
|
rs757498072
|
|
|
NM_007118.4(TRIO):c.5359G>C (p.Gly1787Arg)
|
rs372071741
|
|
|
NM_007118.4(TRIO):c.5690G>A (p.Arg1897His)
|
rs755807866
|
|
|
NM_007118.4(TRIO):c.578T>C (p.Val193Ala)
|
rs774060768
|
|
|
NM_007118.4(TRIO):c.6173A>G (p.Tyr2058Cys)
|
rs2477351695
|
|
|
NM_007118.4(TRIO):c.6387+5A>G
|
rs1248965740
|
|
|
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup)
|
rs749785358
|
|
|
NM_007118.4(TRIO):c.7049C>A (p.Pro2350His)
|
rs754870679
|
|
|
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg)
|
rs754870679
|
|
|
NM_007118.4(TRIO):c.7136C>G (p.Pro2379Arg)
|
rs781081298
|
|
|
NM_007118.4(TRIO):c.7444G>C (p.Gly2482Arg)
|
rs571329736
|
|
|
NM_007118.4(TRIO):c.7463C>T (p.Ser2488Phe)
|
rs748080841
|
|
|
NM_007118.4(TRIO):c.7475C>A (p.Ser2492Tyr)
|
rs774046957
|
|
|
NM_007118.4(TRIO):c.8231T>C (p.Leu2744Pro)
|
rs1012969286
|
|
|
NM_007118.4(TRIO):c.8399C>T (p.Ala2800Val)
|
rs1757379008
|
|
|
NM_007118.4(TRIO):c.8798A>G (p.Lys2933Arg)
|
rs201908582
|
|
|
NM_007118.4(TRIO):c.8875G>A (p.Ala2959Thr)
|
rs780863165
|
|
|
NM_007118.4(TRIO):c.8909C>T (p.Ser2970Phe)
|
rs2477740430
|
|
|
NM_007118.4(TRIO):c.9088C>T (p.Leu3030Phe)
|
rs2126724644
|
|
|
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
|
rs1828723406
|
|
|
NM_007126.5(VCP):c.1129C>T (p.Arg377Cys)
|
rs1251256829
|
|
|
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu)
|
rs1828722725
|
|
|
NM_007126.5(VCP):c.1186C>G (p.Leu396Val)
|
rs2131031813
|
|
|
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
|
rs767081097
|
|
|
NM_007126.5(VCP):c.1256C>G (p.Ala419Gly)
|
rs775408796
|
|
|
NM_007126.5(VCP):c.1433A>T (p.Asp478Val)
|
rs1554668345
|
|
|
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
|
rs2490373887
|
|
|
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)
|
rs765795425
|
|
|
NM_007126.5(VCP):c.2101G>A (p.Glu701Lys)
|
rs2490346015
|
|
|
NM_007126.5(VCP):c.2118G>C (p.Glu706Asp)
|
rs2131028733
|
|
|
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala)
|
rs1828626335
|
|
|
NM_007126.5(VCP):c.392T>C (p.Phe131Ser)
|
rs2490370305
|
|
|
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys)
|
rs1828840466
|
|
|
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)
|
rs121909329
|
|
|
NM_007126.5(VCP):c.478G>A (p.Ala160Thr)
|
rs1554668805
|
|
|
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
|
rs2490360380
|
|
|
NM_007126.5(VCP):c.722T>G (p.Ile241Ser)
|
rs2490360380
|
|
|
NM_007126.5(VCP):c.812G>C (p.Gly271Ala)
|
rs1064796741
|
|
|
NM_007126.5(VCP):c.887A>G (p.Asn296Ser)
|
rs2490358037
|
|
|
NM_007129.5(ZIC2):c.143G>C (p.Gly48Ala)
|
rs771466003
|
|
|
NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro)
|
rs2501544768
|
|
|
NM_007129.5(ZIC2):c.810G>C (p.Lys270Asn)
|
rs2053243680
|
|
|
NM_007131.5(ZNF75D):c.1051C>T (p.Leu351Phe)
|
rs139656149
|
|
|
NM_007144.3(PCGF2):c.629A>G (p.Asp210Gly)
|
rs2508670403
|
|
|
NM_007192.4(SUPT16H):c.132T>G (p.Ile44Met)
|
rs75576875
|
|
|
NM_007192.4(SUPT16H):c.973G>A (p.Val325Met)
|
rs201123027
|
|
|
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)
|
rs202089930
|
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
|
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val)
|
rs1555932352
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn)
|
rs768234137
|
|
|
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile)
|
rs748504161
|
|
|
NM_007215.4(POLG2):c.417A>G (p.Leu139=)
|
rs1555669550
|
|
|
NM_007254.4(PNKP):c.1123G>C (p.Gly375Arg)
|
rs786203983
|
|
|
NM_007254.4(PNKP):c.1376A>C (p.His459Pro)
|
rs2514632442
|
|
|
NM_007254.4(PNKP):c.1481G>A (p.Gly494Asp)
|
rs1085307661
|
|
|
NM_007254.4(PNKP):c.662G>A (p.Ser221Asn)
|
rs1414296867
|
|
|
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
|
rs753142417
|
|
|
NM_007254.4(PNKP):c.787A>T (p.Thr263Ser)
|
rs2074797304
|
|
|
NM_007289.4(MME):c.1033G>C (p.Val345Leu)
|
rs61758194
|
|
|
NM_007289.4(MME):c.1526A>G (p.Glu509Gly)
|
rs750081545
|
|
|
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr)
|
rs183557525
|
|
|
NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro)
|
rs753256448
|
|
|
NM_007294.4(BRCA1):c.301+1G>A
|
rs587782173
|
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
|
NM_007294.4(BRCA1):c.3890C>A (p.Ser1297Tyr)
|
rs2154278571
|
|
|
NM_007294.4(BRCA1):c.4268G>A (p.Ser1423Asn)
|
rs876660129
|
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
|
NM_007294.4(BRCA1):c.4790C>A (p.Thr1597Asn)
|
rs587781623
|
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGA (p.Ser1613Asp)
|
rs2052398037
|
|
|
NM_007294.4(BRCA1):c.581C>T (p.Ala194Val)
|
rs2054177836
|
|
|
NM_007317.3(KIF22):c.1396C>T (p.Arg466Ter)
|
rs745681316
|
|
|
NM_007327.4(GRIN1):c.1334G>A (p.Gly445Asp)
|
rs147435860
|
|
|
NM_007327.4(GRIN1):c.1569C>A (p.Arg523=)
|
rs1833579629
|
|
|
NM_007327.4(GRIN1):c.2039_2042del (p.Ile680fs)
|
rs1564364189
|
|
|
NM_007327.4(GRIN1):c.2215G>C (p.Glu739Gln)
|
rs2538645128
|
|
|
NM_007327.4(GRIN1):c.2444-16G>A
|
rs896361924
|
|
|
NM_007327.4(GRIN1):c.879C>G (p.His293Gln)
|
rs746040843
|
|
|
NM_007332.3(TRPA1):c.1743del (p.Ser582fs)
|
rs775402702
|
|
|
NM_007332.3(TRPA1):c.2581G>T (p.Val861Phe)
|
rs2487549076
|
|
|
NM_007357.3(COG2):c.413G>A (p.Arg138Gln)
|
rs199727575
|
|
|
NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile)
|
rs1326929249
|
|
|
NM_012062.5(DNM1L):c.1654_1659del (p.Ser552_Ala553del)
|
rs761444723
|
|
|
NM_012073.5(CCT5):c.1289C>G (p.Ala430Gly)
|
rs757459371
|
|
|
NM_012073.5(CCT5):c.1624T>G (p.Ter542Gly)
|
rs2477481956
|
|
|
NM_012082.4(ZFPM2):c.848T>C (p.Val283Ala)
|
rs772835681
|
|
|
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs)
|
rs759445569
|
|
|
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
|
rs2533245592
|
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
rs2489236019
|
|
|
NM_012210.4(TRIM32):c.1093G>A (p.Gly365Ser)
|
rs1554733065
|
|
|
NM_012210.4(TRIM32):c.1768A>G (p.Ile590Val)
|
rs768741902
|
|
|
NM_012210.4(TRIM32):c.1787G>T (p.Arg596Leu)
|
rs750300057
|
|
|
NM_012210.4(TRIM32):c.1819G>A (p.Gly607Ser)
|
rs751460354
|
|
|
NM_012210.4(TRIM32):c.265G>T (p.Ala89Ser)
|
rs539376933
|
|
|
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr)
|
rs1231169096
|
|
|
NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)
|
rs2491059086
|
|
|
NM_012210.4(TRIM32):c.463C>T (p.Arg155Cys)
|
rs374055553
|
|
|
NM_012210.4(TRIM32):c.496C>G (p.Arg166Gly)
|
rs752016708
|
|
|
NM_012210.4(TRIM32):c.646T>C (p.Ser216Pro)
|
rs2491061314
|
|
|
NM_012210.4(TRIM32):c.713G>A (p.Arg238His)
|
rs564290779
|
|
|
NM_012210.4(TRIM32):c.768G>T (p.Glu256Asp)
|
rs2491062352
|
|
|
NM_012210.4(TRIM32):c.983G>T (p.Ser328Ile)
|
rs2491063922
|
|
|
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
|
rs200573073
|
|
|
NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile)
|
rs2507392153
|
|
|
NM_012213.3(MLYCD):c.315G>C (p.Gln105His)
|
rs1446247481
|
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
|
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)
|
rs560641597
|
|
|
NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)
|
rs1239077815
|
|
|
NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)
|
rs2085433549
|
|
|
NM_012233.3(RAB3GAP1):c.2005C>T (p.His669Tyr)
|
rs769545952
|
|
|
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser)
|
rs77535003
|
|
|
NM_012243.3(SLC35A3):c.754-1G>T
|
rs2524627630
|
|
|
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)
|
rs747536139
|
|
|
NM_012259.3(HEY2):c.63del (p.Ser22fs)
|
rs2482663557
|
|
|
NM_012309.5(SHANK2):c.892G>T (p.Gly298Cys)
|
rs558179859
|
|
|
NM_012310.5(KIF4A):c.3322G>A (p.Val1108Met)
|
rs2519701666
|
|
|
NM_012330.4(KAT6B):c.1778T>C (p.Ile593Thr)
|
rs768759056
|
|
|
NM_012330.4(KAT6B):c.2279G>A (p.Ser760Asn)
|
rs2548989583
|
|
|
NM_012330.4(KAT6B):c.2902A>G (p.Met968Val)
|
rs2549164857
|
|
|
NM_012330.4(KAT6B):c.5309G>C (p.Ser1770Thr)
|
rs1183406061
|
|
|
NM_012330.4(KAT6B):c.5512G>T (p.Ala1838Ser)
|
rs143804810
|
|
|
NM_012330.4(KAT6B):c.5914A>T (p.Met1972Leu)
|
rs2549216478
|
|
|
NM_012330.4(KAT6B):c.6039G>C (p.Met2013Ile)
|
rs2549217723
|
|
|
NM_012414.4(RAB3GAP2):c.218_219delinsAT (p.Ser73Tyr)
|
rs2528727405
|
|
|
NM_012463.4(ATP6V0A2):c.1084A>G (p.Thr362Ala)
|
rs2541863592
|
|
|
NM_012464.5(TLL1):c.1399C>T (p.Arg467Cys)
|
rs777905713
|
|
|
NM_012464.5(TLL1):c.1669G>C (p.Val557Leu)
|
rs537688226
|
|
|
NM_012464.5(TLL1):c.2044C>A (p.Leu682Ile)
|
rs763537316
|
|
|
NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg)
|
rs1800215096
|
|
|
NM_012470.4(TNPO3):c.1632T>G (p.Ile544Met)
|
rs2536100324
|
|
|
NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe)
|
rs2536076403
|
|
|
NM_012470.4(TNPO3):c.201G>C (p.Met67Ile)
|
rs1158559409
|
|
|
NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp)
|
rs2535988613
|
|
|
NM_012470.4(TNPO3):c.2431-2A>C
|
rs886043142
|
|
|
NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg)
|
rs2535922526
|
|
|
NM_012470.4(TNPO3):c.472del (p.Ser158fs)
|
rs2536398624
|
|
|
NM_012470.4(TNPO3):c.481A>G (p.Ile161Val)
|
rs1803677317
|
|
|
NM_012470.4(TNPO3):c.533G>A (p.Ser178Asn)
|
rs1803671433
|
|
|
NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly)
|
rs777728222
|
|
|
NM_012470.4(TNPO3):c.668_672del (p.Lys223fs)
|
rs2536299139
|
|
|
NM_012470.4(TNPO3):c.862G>C (p.Asp288His)
|
rs758890890
|
|
|
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser)
|
rs1801818228
|
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
|
NM_013245.3(VPS4A):c.1232T>C (p.Leu411Pro)
|
rs2544556060
|
|
|
NM_013254.4(TBK1):c.1895C>T (p.Ser632Leu)
|
rs1297925261
|
|
|
NM_013266.4(CTNNA3):c.1321G>A (p.Gly441Arg)
|
rs2547392231
|
|
|
NM_013266.4(CTNNA3):c.1496A>C (p.Asp499Ala)
|
rs2547261500
|
|
|
NM_013266.4(CTNNA3):c.1561T>G (p.Cys521Gly)
|
rs1228977390
|
|
|
NM_013266.4(CTNNA3):c.466A>G (p.Arg156Gly)
|
rs1027475022
|
|
|
NM_013266.4(CTNNA3):c.952T>C (p.Ser318Pro)
|
rs1564948470
|
|
|
NM_013275.6(ANKRD11):c.2759G>C (p.Arg920Thr)
|
rs773527879
|
|
|
NM_013275.6(ANKRD11):c.3257A>G (p.Lys1086Arg)
|
rs2544238110
|
|
|
NM_013275.6(ANKRD11):c.3415_3416delinsTT (p.Glu1139Leu)
|
rs2544237640
|
|
|
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)
|
rs1294714307
|
|
|
NM_013275.6(ANKRD11):c.3868C>T (p.His1290Tyr)
|
rs1009113659
|
|
|
NM_013275.6(ANKRD11):c.4637T>G (p.Val1546Gly)
|
rs2151748828
|
|
|
NM_013275.6(ANKRD11):c.5198C>G (p.Ala1733Gly)
|
rs148243995
|
|
|
NM_013275.6(ANKRD11):c.5935C>G (p.Leu1979Val)
|
rs774653782
|
|
|
NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu)
|
rs770387752
|
|
|
NM_013275.6(ANKRD11):c.6329C>T (p.Ser2110Phe)
|
rs754349927
|
|
|
NM_013275.6(ANKRD11):c.6439G>A (p.Asp2147Asn)
|
rs1210721711
|
|
|
NM_013275.6(ANKRD11):c.6790C>T (p.Pro2264Ser)
|
rs532695477
|
|
|
NM_013275.6(ANKRD11):c.6970C>T (p.Pro2324Ser)
|
rs1223941286
|
|
|
NM_013275.6(ANKRD11):c.7160G>A (p.Arg2387His)
|
rs1463462849
|
|
|
NM_013275.6(ANKRD11):c.7807-2A>G
|
rs2544117164
|
|
|
NM_013292.5(MYL11):c.283_300dup (p.Ile100_Thr101insAspProGluAspValIle)
|
rs2543906734
|
|
|
NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs)
|
rs1450246154
|
|
|
NM_013328.4(PYCR2):c.50G>C (p.Arg17Pro)
|
rs959032271
|
|
|
NM_013328.4(PYCR2):c.748T>G (p.Phe250Val)
|
rs764231737
|
|
|
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
|
rs1400637421
|
|
|
NM_013336.4(SEC61A1):c.299T>C (p.Ile100Thr)
|
rs2473020588
|
|
|
NM_013382.7(POMT2):c.1174A>T (p.Thr392Ser)
|
rs2503226785
|
|
|
NM_013382.7(POMT2):c.1246C>T (p.His416Tyr)
|
rs1890533131
|
|
|
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
|
rs1449549707
|
|
|
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg)
|
rs753037500
|
|
|
NM_013382.7(POMT2):c.1568A>C (p.Asn523Thr)
|
rs886042386
|
|
|
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu)
|
rs147882035
|
|
|
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
|
rs1239345534
|
|
|
NM_013382.7(POMT2):c.1653+3A>T
|
rs2503185724
|
|
|
NM_013382.7(POMT2):c.1672C>T (p.Pro558Ser)
|
rs1338558574
|
|
|
NM_013382.7(POMT2):c.1757A>G (p.Asp586Gly)
|
rs1566644193
|
|
|
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe)
|
rs1555351859
|
|
|
NM_013382.7(POMT2):c.1946T>G (p.Leu649Arg)
|
rs2503155789
|
|
|
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys)
|
rs2140161863
|
|
|
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer)
|
rs1566642523
|
|
|
NM_013382.7(POMT2):c.2114G>A (p.Gly705Glu)
|
rs2503151764
|
|
|
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro)
|
rs1200964688
|
|
|
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln)
|
rs753326186
|
|
|
NM_013382.7(POMT2):c.550_552del (p.Thr184del)
|
rs1398203283
|
|
|
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn)
|
rs1200584567
|
|
|
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys)
|
rs1594797659
|
|
|
NM_013382.7(POMT2):c.652G>T (p.Asp218Tyr)
|
rs140785104
|
|
|
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu)
|
rs1555354184
|
|
|
NM_013382.7(POMT2):c.665C>G (p.Ser222Cys)
|
rs911038793
|
|
|
NM_013382.7(POMT2):c.740T>A (p.Leu247His)
|
rs2503277126
|
|
|
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile)
|
rs794727871
|
|
|
NM_013382.7(POMT2):c.971C>T (p.Ser324Leu)
|
rs1391641457
|
|
|
NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)
|
rs1454038670
|
|
|
NM_013435.3(RAX):c.497G>C (p.Arg166Pro)
|
rs754301606
|
|
|
NM_013436.5(NCKAP1):c.61A>C (p.Asn21His)
|
rs2468326140
|
|
|
NM_013437.5(LRP12):c.418A>G (p.Arg140Gly)
|
rs2537915623
|
|
|
NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala)
|
rs769671256
|
|
|
NM_014000.3(VCL):c.1648C>G (p.Gln550Glu)
|
rs1406371942
|
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
|
NM_014000.3(VCL):c.875G>T (p.Gly292Val)
|
rs763330709
|
|
|
NM_014003.4(DHX38):c.716A>G (p.Tyr239Cys)
|
rs181471020
|
|
|
NM_014008.5(CCDC22):c.1501G>A (p.Val501Met)
|
rs1017576908
|
|
|
NM_014008.5(CCDC22):c.1610C>G (p.Ala537Gly)
|
rs782683625
|
|
|
NM_014008.5(CCDC22):c.1862T>G (p.Leu621Arg)
|
rs2519183101
|
|
|
NM_014008.5(CCDC22):c.552G>C (p.Gln184His)
|
rs2519168992
|
|
|
NM_014008.5(CCDC22):c.973G>T (p.Val325Phe)
|
rs782036247
|
|
|
NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)
|
rs200396601
|
|
|
NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala)
|
rs2467330840
|
|
|
NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)
|
rs2471756429
|
|
|
NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys)
|
rs2529269917
|
|
|
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr)
|
rs778558550
|
|
|
NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys)
|
rs1364043818
|
|
|
NM_014112.5(TRPS1):c.1846T>C (p.Ser616Pro)
|
rs780551240
|
|
|
NM_014141.6(CNTNAP2):c.1096T>C (p.Phe366Leu)
|
rs761910664
|
|
|
NM_014141.6(CNTNAP2):c.1530C>A (p.His510Gln)
|
rs747481482
|
|
|
NM_014141.6(CNTNAP2):c.1898-278_1898-276del
|
rs529257312
|
|
|
NM_014141.6(CNTNAP2):c.2456C>T (p.Thr819Ile)
|
rs771687213
|
|
|
NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His)
|
rs369919189
|
|
|
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)
|
rs540745201
|
|
|
NM_014141.6(CNTNAP2):c.3197A>G (p.Tyr1066Cys)
|
rs1795664797
|
|
|
NM_014141.6(CNTNAP2):c.3476-4T>C
|
rs2485691510
|
|
|
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr)
|
rs761684414
|
|
|
NM_014141.6(CNTNAP2):c.3781T>G (p.Ser1261Ala)
|
rs754580386
|
|
|
NM_014141.6(CNTNAP2):c.681C>A (p.His227Gln)
|
rs142984073
|
|
|
NM_014141.6(CNTNAP2):c.789A>G (p.Thr263=)
|
rs1466377515
|
|
|
NM_014141.6(CNTNAP2):c.845A>G (p.Glu282Gly)
|
rs2129282723
|
|
|
NM_014159.7(SETD2):c.1116_1119del (p.Asp372fs)
|
rs752743762
|
|
|
NM_014159.7(SETD2):c.1498T>C (p.Ser500Pro)
|
rs2106696214
|
|
|
NM_014159.7(SETD2):c.1846G>C (p.Ala616Pro)
|
rs747391146
|
|
|
NM_014159.7(SETD2):c.1957G>C (p.Asp653His)
|
rs2043149282
|
|
|
NM_014159.7(SETD2):c.2384G>C (p.Cys795Ser)
|
rs1168186509
|
|
|
NM_014159.7(SETD2):c.2884G>C (p.Ala962Pro)
|
rs1288231134
|
|
|
NM_014159.7(SETD2):c.3239T>C (p.Met1080Thr)
|
rs2043080502
|
|
|
NM_014159.7(SETD2):c.4048T>A (p.Ser1350Thr)
|
rs2043034027
|
|
|
NM_014159.7(SETD2):c.554C>T (p.Ser185Leu)
|
rs757008196
|
|
|
NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)
|
rs1490559790
|
|
|
NM_014159.7(SETD2):c.6090A>T (p.Gln2030His)
|
rs758026999
|
|
|
NM_014159.7(SETD2):c.6931C>T (p.Pro2311Ser)
|
rs2545459697
|
|
|
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser)
|
rs1162711197
|
|
|
NM_014207.4(CD5):c.1108C>G (p.Pro370Ala)
|
rs2539423145
|
|
|
NM_014208.3(DSPP):c.2292CAGTGACAGCAGTGATAG[1] (p.766DSS[3])
|
rs1270564167
|
|
|
NM_014225.6(PPP2R1A):c.1479del (p.Asn494fs)
|
rs2122365093
|
|
|
NM_014225.6(PPP2R1A):c.450C>G (p.Leu150=)
|
rs2514088664
|
|
|
NM_014225.6(PPP2R1A):c.751G>A (p.Ala251Thr)
|
rs777150923
|
|
|
NM_014233.4(UBTF):c.2291A>C (p.Asn764Thr)
|
rs776223010
|
|
|
NM_014233.4(UBTF):c.649G>A (p.Val217Met)
|
rs2056783034
|
|
|
NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala)
|
rs1365521777
|
|
|
NM_014251.3(SLC25A13):c.1909G>A (p.Val637Ile)
|
rs151330313
|
|
|
NM_014251.3(SLC25A13):c.544G>A (p.Asp182Asn)
|
rs779617287
|
|
|
NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)
|
rs772826926
|
|
|
NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)
|
rs2513539035
|
|
|
NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)
|
rs201766636
|
|
|
NM_014271.4(IL1RAPL1):c.1195G>A (p.Asp399Asn)
|
rs1172072780
|
|
|
NM_014284.3(NCDN):c.1268G>A (p.Arg423His)
|
rs200536942
|
|
|
NM_014284.3(NCDN):c.127C>T (p.Leu43Phe)
|
rs2522855742
|
|
|
NM_014284.3(NCDN):c.1482C>G (p.Phe494Leu)
|
rs2522873194
|
|
|
NM_014305.4(TGDS):c.491A>C (p.Asn164Thr)
|
rs2501969255
|
|
|
NM_014314.4(RIGI):c.877G>C (p.Val293Leu)
|
rs1022852376
|
|
|
NM_014324.6(AMACR):c.389C>G (p.Ser130Ter)
|
rs2479022969
|
|
|
NM_014334.4(FRRS1L):c.407T>G (p.Leu136Arg)
|
rs2538501251
|
|
|
NM_014336.5(AIPL1):c.575G>T (p.Gly192Val)
|
rs2543885950
|
|
|
NM_014339.7(IL17RA):c.1324A>G (p.Lys442Glu)
|
rs752402424
|
|
|
NM_014339.7(IL17RA):c.1955C>G (p.Pro652Arg)
|
rs369723943
|
|
|
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
|
rs747967949
|
|
|
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
|
rs148925505
|
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
|
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
|
rs2542166411
|
|
|
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)
|
rs764554878
|
|
|
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
|
rs1883511855
|
|
|
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
|
rs2542161839
|
|
|
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
|
rs760532575
|
|
|
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
|
rs1239497172
|
|
|
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
|
rs760023825
|
|
|
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
|
rs2542214035
|
|
|
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
|
rs1226706134
|
|
|
NM_014365.3(HSPB8):c.539G>A (p.Ser180Asn)
|
rs2500054846
|
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
|
NM_014413.4(EIF2AK1):c.1510G>T (p.Gly504Ter)
|
rs566395713
|
|
|
NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)
|
rs1936857417
|
|
|
NM_014423.4(AFF4):c.2057G>C (p.Ser686Thr)
|
rs2532473815
|
|
|
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro)
|
rs201192755
|
|
|
NM_014423.4(AFF4):c.3256C>G (p.Pro1086Ala)
|
rs1760036753
|
|
|
NM_014423.4(AFF4):c.734dup (p.Ser246fs)
|
rs2532575160
|
|
|
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg)
|
rs764384987
|
|
|
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
|
rs2490134616
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
|
NM_014458.4(KLHL20):c.971G>A (p.Gly324Asp)
|
rs2525470752
|
|
|
NM_014476.6(PDLIM3):c.827C>T (p.Ala276Val)
|
rs1371727157
|
|
|
NM_014491.4(FOXP2):c.361C>T (p.Leu121Phe)
|
rs1403341767
|
|
|
NM_014491.4(FOXP2):c.693G>T (p.Gln231His)
|
rs755829229
|
|
|
NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)
|
rs537365761
|
|
|
NM_014515.7(CNOT2):c.406C>T (p.Pro136Ser)
|
rs2499107829
|
|
|
NM_014516.4(CNOT3):c.1085G>A (p.Ser362Asn)
|
rs1206738772
|
|
|
NM_014516.4(CNOT3):c.1151G>A (p.Ser384Asn)
|
rs1383177429
|
|
|
NM_014516.4(CNOT3):c.1358A>T (p.Gln453Leu)
|
rs2074845581
|
|
|
NM_014585.6(SLC40A1):c.373C>T (p.His125Tyr)
|
rs568086191
|
|
|
NM_014629.4(ARHGEF10):c.1030A>G (p.Lys344Glu)
|
rs2537205637
|
|
|
NM_014629.4(ARHGEF10):c.679+2T>A
|
rs2537005626
|
|
|
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
|
rs2530804677
|
|
|
NM_014641.3(MDC1):c.5132C>T (p.Ser1711Phe)
|
rs375555569
|
|
|
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)
|
rs766124955
|
|
|
NM_014687.4(RUBCN):c.1474-5G>T
|
rs201373464
|
|
|
NM_014694.4(ADAMTSL2):c.2245T>C (p.Cys749Arg)
|
rs2538217503
|
|
|
NM_014712.3(SETD1A):c.1047_1055del (p.Ser355_Ser357del)
|
rs781296840
|
|
|
NM_014712.3(SETD1A):c.1543G>A (p.Glu515Lys)
|
rs2543857308
|
|
|
NM_014712.3(SETD1A):c.1907C>T (p.Pro636Leu)
|
rs2543860537
|
|
|
NM_014712.3(SETD1A):c.2386G>T (p.Ala796Ser)
|
rs896870277
|
|
|
NM_014712.3(SETD1A):c.2843G>A (p.Arg948Gln)
|
rs149618545
|
|
|
NM_014712.3(SETD1A):c.4154G>A (p.Gly1385Glu)
|
rs2056346112
|
|
|
NM_014712.3(SETD1A):c.4211_4212insCCCC (p.Pro1406fs)
|
rs2543905817
|
|
|
NM_014712.3(SETD1A):c.4807C>T (p.Arg1603Cys)
|
rs2543911081
|
|
|
NM_014714.4(IFT140):c.2617G>A (p.Asp873Asn)
|
rs560840162
|
|
|
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu)
|
rs749549494
|
|
|
NM_014727.3(KMT2B):c.1990T>C (p.Ser664Pro)
|
rs2513317645
|
|
|
NM_014727.3(KMT2B):c.2624CTG[1] (p.Ala876del)
|
rs766877314
|
|
|
NM_014727.3(KMT2B):c.5226T>C (p.Thr1742=)
|
rs2513346407
|
|
|
NM_014727.3(KMT2B):c.6296_6297inv (p.Ala2099Val)
|
|
|
|
NM_014727.3(KMT2B):c.7595G>A (p.Arg2532Gln)
|
rs2513368301
|
|
|
NM_014727.3(KMT2B):c.7651T>A (p.Ser2551Thr)
|
rs548244419
|
|
|
NM_014727.3(KMT2B):c.849_866del (p.Gln284_Gly289del)
|
rs757347154
|
|
|
NM_014738.6(TMEM94):c.3572T>C (p.Leu1191Pro)
|
rs2546074037
|
|
|
NM_014754.3(PTDSS1):c.1404T>A (p.Asn468Lys)
|
rs781150979
|
|
|
NM_014780.5(CUL7):c.167G>T (p.Gly56Val)
|
rs2532749557
|
|
|
NM_014780.5(CUL7):c.5029_5030del (p.Gln1677fs)
|
rs2532569286
|
|
|
NM_014795.4(ZEB2):c.2311C>T (p.Pro771Ser)
|
rs1157918568
|
|
|
NM_014795.4(ZEB2):c.2312C>T (p.Pro771Leu)
|
rs2549106034
|
|
|
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)
|
rs730881214
|
|
|
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln)
|
rs730881174
|
|
|
NM_014804.3(KIAA0753):c.599C>A (p.Pro200His)
|
rs2544519720
|
|
|
NM_014815.4(MED24):c.291G>C (p.Leu97Phe)
|
rs2544126793
|
|
|
NM_014845.6(FIG4):c.503G>C (p.Ser168Thr)
|
rs748859030
|
|
|
NM_014845.6(FIG4):c.847C>T (p.Arg283Cys)
|
rs1400258914
|
|
|
NM_014846.4(WASHC5):c.2380-9G>A
|
rs759557344
|
|
|
NM_014846.4(WASHC5):c.2992C>T (p.Pro998Ser)
|
rs2537287179
|
|
|
NM_014847.4(UBAP2L):c.3214C>T (p.Pro1072Ser)
|
rs1459468103
|
|
|
NM_014855.3(AP5Z1):c.1091T>C (p.Val364Ala)
|
rs2534051699
|
|
|
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His)
|
rs200224845
|
|
|
NM_014855.3(AP5Z1):c.969+3_969+6dup
|
rs748280348
|
|
|
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)
|
rs376680652
|
|
|
NM_014874.4(MFN2):c.425A>G (p.His142Arg)
|
rs2523011373
|
|
|
NM_014875.3(KIF14):c.1127A>G (p.Lys376Arg)
|
rs2527778944
|
|
|
NM_014875.3(KIF14):c.4568-1G>T
|
rs2527203238
|
|
|
NM_014905.5(GLS):c.125G>T (p.Gly42Val)
|
rs746848816
|
|
|
NM_014905.5(GLS):c.299C>T (p.Pro100Leu)
|
rs1176940619
|
|
|
NM_014905.5(GLS):c.867A>C (p.Lys289Asn)
|
rs2470259523
|
|
|
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)
|
rs2492003570
|
|
|
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)
|
rs775477450
|
|
|
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)
|
rs1242714306
|
|
|
NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)
|
rs1419864564
|
|
|
NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)
|
rs2092417438
|
|
|
NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)
|
rs2519358430
|
|
|
NM_014946.4(SPAST):c.101C>T (p.Pro34Leu)
|
rs771019519
|
|
|
NM_014946.4(SPAST):c.1448T>G (p.Met483Arg)
|
rs1679565382
|
|
|
NM_014946.4(SPAST):c.1688-3C>T
|
rs1679915565
|
|
|
NM_014946.4(SPAST):c.226G>T (p.Val76Leu)
|
rs550314787
|
|
|
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
|
rs372830445
|
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
|
NM_014975.3(MAST1):c.2316G>T (p.Glu772Asp)
|
rs976625881
|
|
|
NM_014975.3(MAST1):c.3451G>A (p.Gly1151Ser)
|
rs2512544562
|
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
|
NM_014989.7(RIMS1):c.3980A>G (p.Asp1327Gly)
|
rs1473853499
|
|
|
NM_014991.6(WDFY3):c.10114A>C (p.Ile3372Leu)
|
rs760479868
|
|
|
NM_014991.6(WDFY3):c.8033T>G (p.Val2678Gly)
|
rs2531368804
|
|
|
NM_015001.3(SPEN):c.10015A>G (p.Thr3339Ala)
|
rs1227610893
|
|
|
NM_015001.3(SPEN):c.10070_10087dup (p.Pro3362_Ala3363insValGlnSerThrGlnPro)
|
rs549209393
|
|
|
NM_015001.3(SPEN):c.3307T>G (p.Ser1103Ala)
|
rs907075014
|
|
|
NM_015001.3(SPEN):c.3400T>A (p.Cys1134Ser)
|
rs2523077282
|
|
|
NM_015001.3(SPEN):c.5160G>C (p.Glu1720Asp)
|
rs2523082037
|
|
|
NM_015001.3(SPEN):c.5893G>A (p.Glu1965Lys)
|
rs2523084056
|
|
|
NM_015001.3(SPEN):c.70G>A (p.Glu24Lys)
|
rs1205988302
|
|
|
NM_015001.3(SPEN):c.8207C>T (p.Ala2736Val)
|
rs754819053
|
|
|
NM_015001.3(SPEN):c.8987C>T (p.Thr2996Ile)
|
rs886708273
|
|
|
NM_015015.3(KDM4B):c.1255GAG[7] (p.Glu424_Pro425insGlu)
|
rs147027017
|
|
|
NM_015015.3(KDM4B):c.1952C>A (p.Ala651Asp)
|
rs1446663105
|
|
|
NM_015021.3(ZNF292):c.3736C>G (p.Leu1246Val)
|
rs1562186002
|
|
|
NM_015021.3(ZNF292):c.3903T>G (p.Ile1301Met)
|
rs866475029
|
|
|
NM_015021.3(ZNF292):c.4471A>G (p.Lys1491Glu)
|
rs1377675546
|
|
|
NM_015021.3(ZNF292):c.4594A>G (p.Thr1532Ala)
|
rs1331891197
|
|
|
NM_015021.3(ZNF292):c.505A>C (p.Ile169Leu)
|
rs746738863
|
|
|
NM_015021.3(ZNF292):c.5218_5220delinsGTG (p.Ile1740Val)
|
rs2482339211
|
|
|
NM_015021.3(ZNF292):c.5492C>T (p.Ser1831Leu)
|
rs2482343823
|
|
|
NM_015021.3(ZNF292):c.6905T>C (p.Met2302Thr)
|
rs201064332
|
|
|
NM_015021.3(ZNF292):c.7065G>T (p.Lys2355Asn)
|
rs577745065
|
|
|
NM_015046.7(SETX):c.2040G>A (p.Glu680=)
|
rs755050599
|
|
|
NM_015046.7(SETX):c.2180C>T (p.Thr727Ile)
|
rs1156260662
|
|
|
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
|
rs777857355
|
|
|
NM_015046.7(SETX):c.3890A>G (p.Tyr1297Cys)
|
rs753285108
|
|
|
NM_015046.7(SETX):c.49T>C (p.Phe17Leu)
|
rs2539259741
|
|
|
NM_015046.7(SETX):c.7588C>T (p.Pro2530Ser)
|
rs2538821210
|
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
|
NM_015047.3(EMC1):c.2300G>T (p.Gly767Val)
|
rs766820627
|
|
|
NM_015047.3(EMC1):c.2377-2A>G
|
rs2093442517
|
|
|
NM_015047.3(EMC1):c.323G>A (p.Arg108His)
|
rs774813068
|
|
|
NM_015057.5(MYCBP2):c.6260A>T (p.His2087Leu)
|
rs371019723
|
|
|
NM_015080.4(NRXN2):c.1321T>C (p.Ser441Pro)
|
rs1323967920
|
|
|
NM_015080.4(NRXN2):c.2515G>C (p.Val839Leu)
|
rs2495970038
|
|
|
NM_015080.4(NRXN2):c.4444del (p.Asp1482fs)
|
rs2495602400
|
|
|
NM_015087.5(SPART):c.389A>T (p.Gln130Leu)
|
rs772141439
|
|
|
NM_015087.5(SPART):c.988A>G (p.Met330Val)
|
rs1399213398
|
|
|
NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys)
|
rs770810584
|
|
|
NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn)
|
rs779465815
|
|
|
NM_015100.4(POGZ):c.166G>A (p.Ala56Thr)
|
rs1283746447
|
|
|
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile)
|
rs541476793
|
|
|
NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln)
|
rs1369813061
|
|
|
NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile)
|
rs1042613899
|
|
|
NM_015100.4(POGZ):c.3675G>A (p.Met1225Ile)
|
rs2529198059
|
|
|
NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu)
|
rs2529192477
|
|
|
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg)
|
rs556553243
|
|
|
NM_015102.5(NPHP4):c.3220G>C (p.Ala1074Pro)
|
rs966833619
|
|
|
NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter)
|
rs2486236618
|
|
|
NM_015137.6(EFR3A):c.1455T>G (p.Asn485Lys)
|
rs2488847864
|
|
|
NM_015137.6(EFR3A):c.2466A>C (p.Ter822Cys)
|
rs2536740494
|
|
|
NM_015151.4(DIP2A):c.2395-2A>G
|
rs2521515235
|
|
|
NM_015151.4(DIP2A):c.4573C>T (p.His1525Tyr)
|
rs2522164881
|
|
|
NM_015155.3(LARP4B):c.1484+1G>A
|
rs2491228286
|
|
|
NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr)
|
rs1826596291
|
|
|
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
|
rs1461274243
|
|
|
NM_015166.4(MLC1):c.177+5G>A
|
rs1555968723
|
|
|
NM_015178.3(RHOBTB2):c.1331A>G (p.Asp444Gly)
|
rs2487013568
|
|
|
NM_015178.3(RHOBTB2):c.276C>G (p.Asp92Glu)
|
rs2486999003
|
|
|
NM_015189.3(EXOC6B):c.925G>T (p.Glu309Ter)
|
rs2467829094
|
|
|
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
|
rs2515259244
|
|
|
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
|
rs760049895
|
|
|
NM_015204.3(THSD7A):c.77T>C (p.Leu26Pro)
|
rs1204175105
|
|
|
NM_015213.4(DENND5A):c.1550G>A (p.Arg517Gln)
|
rs1564899063
|
|
|
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
|
rs1302737834
|
|
|
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
|
rs2523756840
|
|
|
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
|
rs2523920465
|
|
|
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
|
rs367594577
|
|
|
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
|
rs2523512037
|
|
|
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
|
rs2523095464
|
|
|
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
|
rs201450641
|
|
|
NM_015261.3(NCAPD3):c.3197_3198del (p.Asn1065_Tyr1066insTer)
|
rs1484789225
|
|
|
NM_015267.4(CUX2):c.1901-9C>A
|
rs2499840089
|
|
|
NM_015267.4(CUX2):c.2192C>A (p.Pro731Gln)
|
rs2499866956
|
|
|
NM_015267.4(CUX2):c.2501C>G (p.Pro834Arg)
|
rs766661169
|
|
|
NM_015267.4(CUX2):c.3341A>C (p.His1114Pro)
|
rs1782008440
|
|
|
NM_015267.4(CUX2):c.3556G>T (p.Ala1186Ser)
|
rs2499928278
|
|
|
NM_015267.4(CUX2):c.3728G>A (p.Gly1243Asp)
|
rs1205979837
|
|
|
NM_015267.4(CUX2):c.4009G>A (p.Gly1337Ser)
|
rs777651077
|
|
|
NM_015267.4(CUX2):c.4291A>G (p.Lys1431Glu)
|
rs1204677268
|
|
|
NM_015267.4(CUX2):c.79G>T (p.Val27Phe)
|
rs200420920
|
|
|
NM_015270.5(ADCY6):c.520G>A (p.Ala174Thr)
|
rs2498614478
|
|
|
NM_015270.5(ADCY6):c.583_585del (p.Met195del)
|
rs2498613610
|
|
|
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn)
|
rs111775292
|
|
|
NM_015278.5(SASH1):c.1529G>A (p.Ser510Asn)
|
rs2115402495
|
|
|
NM_015278.5(SASH1):c.3001C>T (p.His1001Tyr)
|
rs1562503324
|
|
|
NM_015294.6(TRIM37):c.1020-10dup
|
rs2545740799
|
|
|
NM_015294.6(TRIM37):c.2002G>A (p.Val668Met)
|
rs2545205741
|
|
|
NM_015295.3(SMCHD1):c.1049A>T (p.Tyr350Phe)
|
rs1246260695
|
|
|
NM_015295.3(SMCHD1):c.1216A>C (p.Thr406Pro)
|
rs2510021701
|
|
|
NM_015295.3(SMCHD1):c.121G>A (p.Gly41Arg)
|
rs1555622312
|
|
|
NM_015295.3(SMCHD1):c.1283G>T (p.Arg428Leu)
|
rs767850671
|
|
|
NM_015295.3(SMCHD1):c.1473G>C (p.Trp491Cys)
|
rs1568176024
|
|
|
NM_015295.3(SMCHD1):c.1566C>G (p.Ser522Arg)
|
rs1555633547
|
|
|
NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT
|
rs2143213299
|
|
|
NM_015295.3(SMCHD1):c.1807G>C (p.Glu603Gln)
|
rs2143214594
|
|
|
NM_015295.3(SMCHD1):c.1976A>G (p.Asp659Gly)
|
rs1475262779
|
|
|
NM_015295.3(SMCHD1):c.2014A>G (p.Thr672Ala)
|
rs2074515606
|
|
|
NM_015295.3(SMCHD1):c.2033T>C (p.Val678Ala)
|
rs188187431
|
|
|
NM_015295.3(SMCHD1):c.2420G>A (p.Arg807Lys)
|
rs2510062342
|
|
|
NM_015295.3(SMCHD1):c.2428C>T (p.Pro810Ser)
|
rs2510062383
|
|
|
NM_015295.3(SMCHD1):c.2455A>C (p.Lys819Gln)
|
rs2510062456
|
|
|
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)
|
rs633422
|
|
|
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro)
|
rs1598284093
|
|
|
NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)
|
rs1568260824
|
|
|
NM_015295.3(SMCHD1):c.3283T>G (p.Trp1095Gly)
|
rs2510101477
|
|
|
NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)
|
rs929636155
|
|
|
NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)
|
rs2510098162
|
|
|
NM_015295.3(SMCHD1):c.3349T>G (p.Ser1117Ala)
|
rs1487238736
|
|
|
NM_015295.3(SMCHD1):c.3426-5T>G
|
rs2510103152
|
|
|
NM_015295.3(SMCHD1):c.3491G>A (p.Gly1164Asp)
|
rs367808331
|
|
|
NM_015295.3(SMCHD1):c.3730T>C (p.Phe1244Leu)
|
rs2075398219
|
|
|
NM_015295.3(SMCHD1):c.3763G>T (p.Ala1255Ser)
|
rs2075398937
|
|
|
NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)
|
rs2075399464
|
|
|
NM_015295.3(SMCHD1):c.3908C>A (p.Thr1303Lys)
|
rs1335285728
|
|
|
NM_015295.3(SMCHD1):c.3908C>G (p.Thr1303Arg)
|
rs1335285728
|
|
|
NM_015295.3(SMCHD1):c.4130A>G (p.Lys1377Arg)
|
rs985072806
|
|
|
NM_015295.3(SMCHD1):c.4338C>A (p.Phe1446Leu)
|
rs2075595123
|
|
|
NM_015295.3(SMCHD1):c.4652C>T (p.Thr1551Ile)
|
rs764313867
|
|
|
NM_015295.3(SMCHD1):c.4747G>A (p.Gly1583Arg)
|
rs2510147219
|
|
|
NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)
|
rs146441077
|
|
|
NM_015295.3(SMCHD1):c.5022A>G (p.Ile1674Met)
|
rs2510150762
|
|
|
NM_015295.3(SMCHD1):c.5064T>G (p.Ile1688Met)
|
rs2510152017
|
|
|
NM_015295.3(SMCHD1):c.5279C>T (p.Ala1760Val)
|
rs2510156456
|
|
|
NM_015295.3(SMCHD1):c.5285G>A (p.Arg1762His)
|
rs1427732854
|
|
|
NM_015295.3(SMCHD1):c.5428G>C (p.Ala1810Pro)
|
rs868745253
|
|
|
NM_015295.3(SMCHD1):c.5606G>A (p.Ser1869Asn)
|
rs2076208897
|
|
|
NM_015295.3(SMCHD1):c.5858A>G (p.Lys1953Arg)
|
rs2510180735
|
|
|
NM_015295.3(SMCHD1):c.5894G>A (p.Arg1965His)
|
rs755578313
|
|
|
NM_015295.3(SMCHD1):c.599A>G (p.Tyr200Cys)
|
rs2509973859
|
|
|
NM_015295.3(SMCHD1):c.659G>C (p.Arg220Pro)
|
rs758139987
|
|
|
NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)
|
rs544722733
|
|
|
NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)
|
rs2073049616
|
|
|
NM_015330.6(SPECC1L):c.1636C>T (p.Arg546Ter)
|
rs748635312
|
|
|
NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe)
|
rs575022840
|
|
|
NM_015330.6(SPECC1L):c.551A>G (p.Lys184Arg)
|
rs778445800
|
|
|
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
|
rs2499932052
|
|
|
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)
|
rs972562200
|
|
|
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)
|
rs2499931445
|
|
|
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly)
|
rs2499924754
|
|
|
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)
|
rs1566010110
|
|
|
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)
|
rs2499912113
|
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
|
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)
|
rs2499872421
|
|
|
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)
|
rs1878031116
|
|
|
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
|
rs898633108
|
|
|
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)
|
rs769061925
|
|
|
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)
|
rs1243736959
|
|
|
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)
|
rs145290490
|
|
|
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)
|
rs1565982593
|
|
|
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)
|
rs2499940690
|
|
|
NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro)
|
rs2145364556
|
|
|
NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly)
|
rs2515572886
|
|
|
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)
|
rs762939072
|
|
|
NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe)
|
rs1212204313
|
|
|
NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser)
|
rs751259103
|
|
|
NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val)
|
rs1247685297
|
|
|
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg)
|
rs750955319
|
|
|
NM_015340.4(LARS2):c.1318A>G (p.Thr440Ala)
|
rs2529020206
|
|
|
NM_015340.4(LARS2):c.1982C>T (p.Thr661Met)
|
rs763484078
|
|
|
NM_015346.4(ZFYVE26):c.7347A>T (p.Glu2449Asp)
|
rs2503928870
|
|
|
NM_015375.3(DSTYK):c.2776G>A (p.Asp926Asn)
|
rs148542303
|
|
|
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
|
rs1429738635
|
|
|
NM_015386.3(COG4):c.1196-7C>G
|
rs2507504598
|
|
|
NM_015386.3(COG4):c.202_203del (p.Leu68fs)
|
rs767979499
|
|
|
NM_015386.3(COG4):c.2162C>A (p.Thr721Lys)
|
rs1056526236
|
|
|
NM_015425.6(POLR1A):c.1106C>G (p.Ala369Gly)
|
rs1368208067
|
|
|
NM_015425.6(POLR1A):c.1846C>T (p.Gln616Ter)
|
rs2466418230
|
|
|
NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr)
|
rs761905806
|
|
|
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp)
|
rs774841964
|
|
|
NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)
|
rs1355589929
|
|
|
NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys)
|
rs2077056067
|
|
|
NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)
|
rs2510347978
|
|
|
NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys)
|
rs2545091876
|
|
|
NM_015443.4(KANSL1):c.779dup (p.Val261fs)
|
rs748018297
|
|
|
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr)
|
rs567021227
|
|
|
NM_015465.5(GEMIN5):c.2019_2020delinsTT (p.Glu673_Pro674delinsAspSer)
|
rs2481065551
|
|
|
NM_015466.4(PTPN23):c.1004-4C>G
|
rs200658102
|
|
|
NM_015466.4(PTPN23):c.2248C>G (p.Pro750Ala)
|
rs199549354
|
|
|
NM_015466.4(PTPN23):c.3773C>T (p.Pro1258Leu)
|
rs146178681
|
|
|
NM_015466.4(PTPN23):c.4609T>A (p.Ser1537Thr)
|
rs751979044
|
|
|
NM_015466.4(PTPN23):c.4849A>T (p.Thr1617Ser)
|
rs2546262209
|
|
|
NM_015474.4(SAMHD1):c.1166C>G (p.Ala389Gly)
|
rs376972390
|
|
|
NM_015474.4(SAMHD1):c.736A>G (p.Asn246Asp)
|
rs2515247574
|
|
|
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)
|
rs185906233
|
|
|
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)
|
rs201495280
|
|
|
NM_015488.5(PNKD):c.465+3G>A
|
rs1313298373
|
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
rs200920274
|
|
|
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.848G>T (p.Ter283Leu)
|
rs201025783
|
|
|
NM_015512.5(DNAH1):c.3598C>T (p.His1200Tyr)
|
rs1408993824
|
|
|
NM_015559.3(SETBP1):c.1222G>A (p.Ala408Thr)
|
rs1468549146
|
|
|
NM_015559.3(SETBP1):c.1361A>G (p.Asn454Ser)
|
rs2511467340
|
|
|
NM_015559.3(SETBP1):c.1556C>T (p.Pro519Leu)
|
rs2511468225
|
|
|
NM_015559.3(SETBP1):c.2236A>G (p.Ile746Val)
|
rs1347725506
|
|
|
NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn)
|
rs779562371
|
|
|
NM_015559.3(SETBP1):c.3250C>G (p.Pro1084Ala)
|
rs2511475210
|
|
|
NM_015559.3(SETBP1):c.3532G>A (p.Ala1178Thr)
|
rs2511476289
|
|
|
NM_015559.3(SETBP1):c.3535_3551delinsTGCAGGCAAAGCCTGCAAAAGCT (p.Thr1179_His1184delinsCysArgGlnSerLeuGlnLysLeu)
|
rs2511476297
|
|
|
NM_015559.3(SETBP1):c.3625A>G (p.Lys1209Glu)
|
rs2511476652
|
|
|
NM_015559.3(SETBP1):c.3799G>T (p.Gly1267Cys)
|
rs2511477288
|
|
|
NM_015559.3(SETBP1):c.4141C>A (p.Leu1381Ile)
|
rs2511320293
|
|
|
NM_015559.3(SETBP1):c.4723C>T (p.Gln1575Ter)
|
rs2511371205
|
|
|
NM_015559.3(SETBP1):c.825_826delinsGG (p.Ser275_Gln276delinsArgGlu)
|
rs2511465181
|
|
|
NM_015570.4(AUTS2):c.105CGG[5] (p.Gly39dup)
|
rs1366255788
|
|
|
NM_015570.4(AUTS2):c.1349_1357dup (p.Ala452_His453insProProAla)
|
rs776652690
|
|
|
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.1691T>C (p.Phe564Ser)
|
rs2484700688
|
|
|
NM_015570.4(AUTS2):c.1774C>A (p.Pro592Thr)
|
rs199756061
|
|
|
NM_015570.4(AUTS2):c.2497C>T (p.Arg833Ter)
|
rs1554487952
|
|
|
NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)
|
rs555021087
|
|
|
NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu)
|
rs145671325
|
|
|
NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu)
|
rs371317370
|
|
|
NM_015570.4(AUTS2):c.3520T>A (p.Ser1174Thr)
|
rs553980730
|
|
|
NM_015570.4(AUTS2):c.91G>A (p.Gly31Arg)
|
rs2484023690
|
|
|
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
|
rs2526650625
|
|
|
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
|
rs1011531647
|
|
|
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
|
rs200052778
|
|
|
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
|
rs2526651761
|
|
|
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu)
|
rs1558048637
|
|
|
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)
|
rs1558037063
|
|
|
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)
|
rs762074035
|
|
|
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
|
rs2526566966
|
|
|
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
|
rs763660412
|
|
|
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)
|
rs533262975
|
|
|
NM_015634.4(KIFBP):c.985A>G (p.Met329Val)
|
rs2492333145
|
|
|
NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)
|
rs945950148
|
|
|
NM_015662.3(IFT172):c.1702A>G (p.Ile568Val)
|
rs2465907083
|
|
|
NM_015662.3(IFT172):c.217G>C (p.Ala73Pro)
|
rs2466035803
|
|
|
NM_015662.3(IFT172):c.2957A>C (p.Lys986Thr)
|
rs2465856264
|
|
|
NM_015662.3(IFT172):c.3941G>A (p.Cys1314Tyr)
|
rs746055848
|
|
|
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro)
|
rs587777080
|
|
|
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
|
rs762121998
|
|
|
NM_015697.9(COQ2):c.48dup (p.Ala17fs)
|
rs767298430
|
|
|
NM_015713.5(RRM2B):c.181G>C (p.Ala61Pro)
|
rs2132562433
|
|
|
NM_015721.3(GEMIN4):c.1406G>A (p.Arg469Lys)
|
rs1365894885
|
|
|
NM_015721.3(GEMIN4):c.2569C>G (p.Leu857Val)
|
rs1974358452
|
|
|
NM_015836.4(WARS2):c.844G>A (p.Val282Met)
|
rs2524937656
|
|
|
NM_015846.4(MBD1):c.1237C>T (p.Arg413Ter)
|
rs1023314200
|
|
|
NM_015884.4(MBTPS2):c.1243C>G (p.Leu415Val)
|
rs2519588727
|
|
|
NM_015909.4(NBAS):c.5351A>G (p.His1784Arg)
|
rs1341085174
|
|
|
NM_015910.7(WDPCP):c.680_682del (p.Arg227del)
|
rs1477567359
|
|
|
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)
|
rs2039539644
|
|
|
NM_015915.5(ATL1):c.1229G>C (p.Gly410Ala)
|
rs2504577330
|
|
|
NM_015915.5(ATL1):c.602T>C (p.Met201Thr)
|
rs2504504055
|
|
|
NM_015915.5(ATL1):c.713A>G (p.Lys238Arg)
|
rs2504541013
|
|
|
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe)
|
rs119476047
|
|
|
NM_015922.3(NSDHL):c.1049A>G (p.Gln350Arg)
|
rs2521819618
|
|
|
NM_015922.3(NSDHL):c.895G>A (p.Val299Met)
|
rs2521817987
|
|
|
NM_015937.6(PIGT):c.493+6A>T
|
rs369893508
|
|
|
NM_015937.6(PIGT):c.82G>A (p.Asp28Asn)
|
rs775836403
|
|
|
NM_015965.7(NDUFA13):c.2T>C (p.Met1Thr)
|
rs1438597293
|
|
|
NM_015981.4(CAMK2A):c.411+1G>C
|
rs2532326244
|
|
|
NM_015981.4(CAMK2A):c.595T>A (p.Cys199Ser)
|
rs2532315906
|
|
|
NM_015981.4(CAMK2A):c.691G>T (p.Asp231Tyr)
|
rs2532314939
|
|
|
NM_016008.4(DYNC2LI1):c.930C>A (p.Asp310Glu)
|
rs2467093294
|
|
|
NM_016013.4(NDUFAF1):c.624_625del (p.Tyr209fs)
|
rs765677258
|
|
|
NM_016030.6(TRAPPC12):c.2071G>C (p.Glu691Gln)
|
rs779320275
|
|
|
NM_016030.6(TRAPPC12):c.250_258dup (p.Gly86_Arg87insAspLeuGly)
|
rs780290712
|
|
|
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu)
|
rs770589013
|
|
|
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)
|
rs995894816
|
|
|
NM_016035.5(COQ4):c.794C>T (p.Ala265Val)
|
rs1832452904
|
|
|
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)
|
rs772721937
|
|
|
NM_016120.4(RLIM):c.1401_1412del (p.Ser473_Ser476del)
|
rs749149244
|
|
|
NM_016120.4(RLIM):c.826T>C (p.Ser276Pro)
|
rs768846788
|
|
|
NM_016123.4(IRAK4):c.149A>T (p.Gln50Leu)
|
rs752850989
|
|
|
NM_016123.4(IRAK4):c.916CAT[1] (p.His307del)
|
rs2540462357
|
|
|
NM_016146.6(TRAPPC4):c.260G>A (p.Gly87Asp)
|
rs2496974605
|
|
|
NM_016146.6(TRAPPC4):c.64T>C (p.Tyr22His)
|
rs2496970929
|
|
|
NM_016148.5(SHANK1):c.3530C>G (p.Thr1177Ser)
|
rs2513884364
|
|
|
NM_016148.5(SHANK1):c.5282C>T (p.Ala1761Val)
|
rs1265805967
|
|
|
NM_016169.4(SUFU):c.1139T>A (p.Leu380His)
|
rs2063675268
|
|
|
NM_016169.4(SUFU):c.34C>A (p.Pro12Thr)
|
rs2544830097
|
|
|
NM_016188.5(ACTL6B):c.1010T>C (p.Ile337Thr)
|
rs2486157304
|
|
|
NM_016188.5(ACTL6B):c.329C>T (p.Ser110Phe)
|
rs2486170697
|
|
|
NM_016188.5(ACTL6B):c.478G>A (p.Gly160Arg)
|
rs2486161087
|
|
|
NM_016188.5(ACTL6B):c.998G>A (p.Cys333Tyr)
|
rs2486157330
|
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
|
NM_016204.4(GDF2):c.1042C>T (p.Pro348Ser)
|
rs2549020041
|
|
|
NM_016204.4(GDF2):c.833A>C (p.His278Pro)
|
rs2549019874
|
|
|
NM_016213.5(TRIP4):c.1182C>G (p.His394Gln)
|
rs867106568
|
|
|
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn)
|
rs375004645
|
|
|
NM_016213.5(TRIP4):c.644T>C (p.Ile215Thr)
|
rs764363211
|
|
|
NM_016213.5(TRIP4):c.712G>A (p.Gly238Arg)
|
rs2505427641
|
|
|
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)
|
rs754049993
|
|
|
NM_016247.4(IMPG2):c.2872A>G (p.Ser958Gly)
|
rs1706425401
|
|
|
NM_016277.5(RAB23):c.-66+5021dup
|
rs1286074062
|
|
|
NM_016284.5(CNOT1):c.1438T>C (p.Cys480Arg)
|
rs2544068455
|
|
|
NM_016284.5(CNOT1):c.287A>G (p.Asp96Gly)
|
rs751892212
|
|
|
NM_016284.5(CNOT1):c.3083C>A (p.Ala1028Glu)
|
rs2543937492
|
|
|
NM_016284.5(CNOT1):c.3485A>C (p.Asn1162Thr)
|
rs2543928131
|
|
|
NM_016284.5(CNOT1):c.4654C>T (p.Arg1552Trp)
|
rs2040115763
|
|
|
NM_016284.5(CNOT1):c.6632A>C (p.Asn2211Thr)
|
rs1242720306
|
|
|
NM_016306.6(DNAJB11):c.452T>G (p.Val151Gly)
|
rs1214226519
|
|
|
NM_016306.6(DNAJB11):c.600-7A>G
|
rs371152451
|
|
|
NM_016310.5(POLR3K):c.95ACA[1] (p.Asn33del)
|
rs749926685
|
|
|
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)
|
rs372187772
|
|
|
NM_016335.6(PRODH):c.1786T>C (p.Phe596Leu)
|
rs2517446422
|
|
|
NM_016335.6(PRODH):c.22C>T (p.Pro8Ser)
|
rs944412642
|
|
|
NM_016335.6(PRODH):c.427G>T (p.Asp143Tyr)
|
rs2146219791
|
|
|
NM_016335.6(PRODH):c.485C>A (p.Ser162Tyr)
|
rs2517456314
|
|
|
NM_016335.6(PRODH):c.850-10A>G
|
rs535186636
|
|
|
NM_016335.6(PRODH):c.934A>G (p.Met312Val)
|
rs535953312
|
|
|
NM_016343.4(CENPF):c.346C>G (p.Gln116Glu)
|
rs2102531522
|
|
|
NM_016356.5(DCDC2):c.215A>G (p.His72Arg)
|
rs750626840
|
|
|
NM_016360.4(TACO1):c.693+4A>G
|
rs2510882022
|
|
|
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala)
|
rs200699154
|
|
|
NM_016373.4(WWOX):c.1047C>G (p.Thr349=)
|
rs940453353
|
|
|
NM_016373.4(WWOX):c.1060C>T (p.Gln354Ter)
|
rs775122564
|
|
|
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)
|
rs200839945
|
|
|
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter)
|
rs200839945
|
|
|
NM_016417.3(GLRX5):c.425G>A (p.Gly142Glu)
|
rs2504113997
|
|
|
NM_016474.5(CCDC174):c.1089G>T (p.Glu363Asp)
|
rs2470144486
|
|
|
NM_016525.5(UBAP1):c.1169C>T (p.Pro390Leu)
|
rs1182174486
|
|
|
NM_016525.5(UBAP1):c.1364_1368delAAAAG (p.Glu455fs)
|
rs2131638399
|
|
|
NM_016525.5(UBAP1):c.304A>T (p.Met102Leu)
|
rs758296334
|
|
|
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
|
rs2542467402
|
|
|
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
|
rs2542481072
|
|
|
NM_016579.4(CD320):c.11G>C (p.Gly4Ala)
|
rs2232774
|
|
|
NM_016579.4(CD320):c.412C>A (p.Arg138Ser)
|
rs201166605
|
|
|
NM_016580.4(PCDH12):c.2051C>A (p.Pro684His)
|
rs10040926
|
|
|
NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)
|
rs779606801
|
|
|
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)
|
rs750461248
|
|
|
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
|
rs2492159068
|
|
|
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
|
rs2492209291
|
|
|
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
|
rs759496172
|
|
|
NM_016642.4(SPTBN5):c.5188del (p.Thr1729_Leu1730insTer)
|
rs2066551323
|
|
|
NM_016642.4(SPTBN5):c.8268G>A (p.Glu2756=)
|
rs759099628
|
|
|
NM_016734.3(PAX5):c.829A>C (p.Met277Leu)
|
rs758672654
|
|
|
NM_016734.3(PAX5):c.92G>A (p.Arg31Gln)
|
rs1839782073
|
|
|
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr)
|
rs1859961874
|
|
|
NM_016938.5(EFEMP2):c.975-5T>G
|
rs2495572882
|
|
|
NM_016953.4(PDE11A):c.126_127del (p.His42fs)
|
rs1416120269
|
|
|
NM_016953.4(PDE11A):c.2044A>G (p.Thr682Ala)
|
rs754995449
|
|
|
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)
|
rs776438003
|
|
|
NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)
|
rs775694851
|
|
|
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys)
|
rs151000841
|
|
|
NM_017534.6(MYH2):c.1518G>T (p.Lys506Asn)
|
rs2508452651
|
|
|
NM_017534.6(MYH2):c.1565C>T (p.Ala522Val)
|
rs746337780
|
|
|
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys)
|
rs763994556
|
|
|
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)
|
rs1555571267
|
|
|
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
|
rs2508451247
|
|
|
NM_017534.6(MYH2):c.2536T>G (p.Leu846Val)
|
rs753664961
|
|
|
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
|
rs2508437797
|
|
|
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)
|
rs1567731278
|
|
|
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
|
rs766408611
|
|
|
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg)
|
rs1324293373
|
|
|
NM_017534.6(MYH2):c.3169G>A (p.Ala1057Thr)
|
rs896990916
|
|
|
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)
|
rs767243766
|
|
|
NM_017534.6(MYH2):c.380A>G (p.Asn127Ser)
|
rs748961733
|
|
|
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser)
|
rs779257410
|
|
|
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)
|
rs2073343240
|
|
|
NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)
|
rs774213421
|
|
|
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr)
|
rs147813930
|
|
|
NM_017534.6(MYH2):c.5527G>C (p.Val1843Leu)
|
rs1366193751
|
|
|
NM_017534.6(MYH2):c.5555G>A (p.Arg1852Gln)
|
rs769778269
|
|
|
NM_017534.6(MYH2):c.5664_5668dup (p.Glu1890fs)
|
rs2508406667
|
|
|
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
|
rs2508469236
|
|
|
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
|
rs141174023
|
|
|
NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)
|
rs2508466640
|
|
|
NM_017541.4(CRYGS):c.436C>T (p.Arg146Cys)
|
rs915116953
|
|
|
NM_017547.4(FOXRED1):c.1234_1239del (p.Asp412_Tyr413del)
|
rs2497204771
|
|
|
NM_017547.4(FOXRED1):c.354G>C (p.Gln118His)
|
rs2497176230
|
|
|
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala)
|
rs536400690
|
|
|
NM_017547.4(FOXRED1):c.677G>A (p.Gly226Glu)
|
rs1386118231
|
|
|
NM_017547.4(FOXRED1):c.682C>T (p.Arg228Trp)
|
rs758966293
|
|
|
NM_017553.3(INO80):c.1724C>T (p.Pro575Leu)
|
rs2542889272
|
|
|
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
|
rs373431592
|
|
|
NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg)
|
rs782182726
|
|
|
NM_017613.4(DONSON):c.664C>G (p.Leu222Val)
|
rs376799218
|
|
|
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe)
|
rs1843292131
|
|
|
NM_017617.5(NOTCH1):c.1609T>G (p.Cys537Gly)
|
rs2540457887
|
|
|
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn)
|
rs1589062647
|
|
|
NM_017617.5(NOTCH1):c.2740+5G>A
|
rs2133352835
|
|
|
NM_017617.5(NOTCH1):c.3171+3G>A
|
rs1431447273
|
|
|
NM_017617.5(NOTCH1):c.6806G>A (p.Gly2269Asp)
|
rs2133317148
|
|
|
NM_017617.5(NOTCH1):c.7556dup (p.Trp2520fs)
|
rs2540419925
|
|
|
NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp)
|
rs2496190745
|
|
|
NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)
|
rs2496181338
|
|
|
NM_017636.4(TRPM4):c.2020-1G>A
|
rs2514150186
|
|
|
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
|
rs2522400834
|
|
|
NM_017649.5(CNNM2):c.1001T>G (p.Leu334Arg)
|
rs2493375745
|
|
|
NM_017649.5(CNNM2):c.1566G>C (p.Leu522Phe)
|
rs2493377482
|
|
|
NM_017649.5(CNNM2):c.631_651del (p.Ala211_Gly217del)
|
rs762054179
|
|
|
NM_017649.5(CNNM2):c.744G>A (p.Glu248=)
|
rs2493375037
|
|
|
NM_017654.4(SAMD9):c.3376G>C (p.Val1126Leu)
|
rs2535355899
|
|
|
NM_017654.4(SAMD9):c.56T>A (p.Val19Glu)
|
rs775165048
|
|
|
NM_017662.5(TRPM6):c.5218G>C (p.Val1740Leu)
|
rs780287587
|
|
|
NM_017668.3(NDE1):c.956C>G (p.Thr319Arg)
|
rs141262029
|
|
|
NM_017714.3(TASP1):c.508G>A (p.Ala170Thr)
|
rs2515597016
|
|
|
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)
|
rs375971219
|
|
|
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])
|
rs1028125077
|
|
|
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
|
rs368221981
|
|
|
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr)
|
rs1553163380
|
|
|
NM_017739.4(POMGNT1):c.1110+3A>G
|
rs2525405701
|
|
|
NM_017739.4(POMGNT1):c.1141A>G (p.Asn381Asp)
|
rs2525403385
|
|
|
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
|
rs2525475445
|
|
|
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg)
|
rs1351958771
|
|
|
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu)
|
rs1553163234
|
|
|
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)
|
rs534543454
|
|
|
NM_017739.4(POMGNT1):c.1514G>C (p.Gly505Ala)
|
rs750490876
|
|
|
NM_017739.4(POMGNT1):c.15G>T (p.Lys5Asn)
|
rs1658365458
|
|
|
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del)
|
rs777715386
|
|
|
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)
|
rs747723242
|
|
|
NM_017739.4(POMGNT1):c.203C>G (p.Ala68Gly)
|
rs1340359956
|
|
|
NM_017739.4(POMGNT1):c.21C>A (p.Ser7Arg)
|
rs769804402
|
|
|
NM_017739.4(POMGNT1):c.281G>T (p.Gly94Val)
|
rs2525462961
|
|
|
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)
|
rs200227264
|
|
|
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
|
rs201665944
|
|
|
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro)
|
rs764809782
|
|
|
NM_017739.4(POMGNT1):c.512_517dup (p.Val172_Leu173insArgVal)
|
rs1553163909
|
|
|
NM_017739.4(POMGNT1):c.520A>C (p.Ile174Leu)
|
rs2525449659
|
|
|
NM_017739.4(POMGNT1):c.977A>G (p.Gln326Arg)
|
rs1234963760
|
|
|
NM_017777.4(MKS1):c.1229A>T (p.Tyr410Phe)
|
rs774267957
|
|
|
NM_017780.4(CHD7):c.1311C>G (p.His437Gln)
|
rs1809114308
|
|
|
NM_017780.4(CHD7):c.3565C>T (p.Arg1189Cys)
|
rs2487853259
|
|
|
NM_017780.4(CHD7):c.4055T>C (p.Phe1352Ser)
|
rs2487903577
|
|
|
NM_017780.4(CHD7):c.507_515dup (p.Pro172_Ala173insProGlnPro)
|
rs2487264663
|
|
|
NM_017780.4(CHD7):c.5308G>T (p.Asp1770Tyr)
|
rs762824174
|
|
|
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
|
rs2488032099
|
|
|
NM_017780.4(CHD7):c.6492T>A (p.Asp2164Glu)
|
rs1805547782
|
|
|
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp)
|
rs979421697
|
|
|
NM_017780.4(CHD7):c.7184C>T (p.Ser2395Phe)
|
rs2488072248
|
|
|
NM_017780.4(CHD7):c.7415C>T (p.Thr2472Ile)
|
rs747677437
|
|
|
NM_017780.4(CHD7):c.7654C>A (p.Pro2552Thr)
|
rs1586459878
|
|
|
NM_017780.4(CHD7):c.7945G>A (p.Val2649Ile)
|
rs2488118619
|
|
|
NM_017780.4(CHD7):c.814A>C (p.Ser272Arg)
|
rs2487270789
|
|
|
NM_017780.4(CHD7):c.8318T>C (p.Met2773Thr)
|
rs2488145261
|
|
|
NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
|
rs768935496
|
|
|
NM_017799.4(TMEM260):c.529A>G (p.Lys177Glu)
|
rs1886844875
|
|
|
NM_017802.4(DNAAF5):c.2201del (p.Gly734fs)
|
rs2484170627
|
|
|
NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)
|
rs776456370
|
|
|
NM_017831.4(RNF125):c.612+1G>A
|
rs2510930972
|
|
|
NM_017837.4(PIGV):c.320G>T (p.Gly107Val)
|
rs1195044511
|
|
|
NM_017837.4(PIGV):c.452C>T (p.Ala151Val)
|
rs1057524351
|
|
|
NM_017866.6(TMEM70):c.354C>G (p.Gly118=)
|
rs762265021
|
|
|
NM_017882.3(CLN6):c.119C>T (p.Thr40Met)
|
rs769199442
|
|
|
NM_017882.3(CLN6):c.142T>A (p.Trp48Arg)
|
rs2505421804
|
|
|
NM_017882.3(CLN6):c.310T>C (p.Ser104Pro)
|
rs1595818378
|
|
|
NM_017882.3(CLN6):c.363C>G (p.Ile121Met)
|
rs148547876
|
|
|
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser)
|
rs2141136125
|
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
|
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
|
rs776083030
|
|
|
NM_017934.7(PHIP):c.2474T>G (p.Val825Gly)
|
rs2481975318
|
|
|
NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn)
|
rs754624603
|
|
|
NM_017934.7(PHIP):c.4042C>T (p.Leu1348Phe)
|
rs1766307830
|
|
|
NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile)
|
rs138108985
|
|
|
NM_017935.5(BANK1):c.1538dup (p.Pro514fs)
|
rs771841548
|
|
|
NM_017947.4(MOCOS):c.1106C>A (p.Ala369Asp)
|
rs533721204
|
|
|
NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)
|
rs2091400430
|
|
|
NM_017951.5(SMPD4):c.1693A>G (p.Lys565Glu)
|
rs2467152616
|
|
|
NM_017999.5(RNF31):c.703G>A (p.Ala235Thr)
|
rs1281657874
|
|
|
NM_018006.5(TRMU):c.-454_-452del
|
rs1190835713
|
|
|
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
|
rs754287313
|
|
|
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
|
rs1252918652
|
|
|
NM_018008.4(FEZF2):c.250C>A (p.Pro84Thr)
|
rs1704290968
|
|
|
NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)
|
rs778199388
|
|
|
NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)
|
rs141739303
|
|
|
NM_018026.4(PACS1):c.286C>T (p.Pro96Ser)
|
rs2495230911
|
|
|
NM_018026.4(PACS1):c.970A>G (p.Ile324Val)
|
rs1161982790
|
|
|
NM_018052.5(VAC14):c.1339C>G (p.Leu447Val)
|
rs1210703688
|
|
|
NM_018060.4(IARS2):c.991G>A (p.Val331Ile)
|
rs201619737
|
|
|
NM_018077.3(RBM28):c.2182A>T (p.Thr728Ser)
|
rs2535562250
|
|
|
NM_018100.4(EFHC1):c.499del (p.Asp167fs)
|
rs2532587890
|
|
|
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
|
rs150075701
|
|
|
NM_018116.4(MSTO1):c.220+5G>C
|
rs1187504822
|
|
|
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.10118G>A (p.Cys3373Tyr)
|
rs1656663616
|
|
|
NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)
|
rs145489194
|
|
|
NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)
|
rs2527368558
|
|
|
NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)
|
rs2527347036
|
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
|
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)
|
rs1390187208
|
|
|
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys)
|
rs1267196794
|
|
|
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly)
|
rs560411441
|
|
|
NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)
|
rs1467804868
|
|
|
NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)
|
rs773154966
|
|
|
NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys)
|
rs760292134
|
|
|
NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)
|
rs754294536
|
|
|
NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter)
|
rs1949718624
|
|
|
NM_018196.4(TMLHE):c.706A>T (p.Lys236Ter)
|
rs782430005
|
|
|
NM_018249.6(CDK5RAP2):c.1161C>G (p.Asn387Lys)
|
rs2539547678
|
|
|
NM_018249.6(CDK5RAP2):c.3055G>A (p.Asp1019Asn)
|
rs1013538076
|
|
|
NM_018249.6(CDK5RAP2):c.3965T>A (p.Val1322Asp)
|
rs996662703
|
|
|
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
|
rs2511293641
|
|
|
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
|
rs748788442
|
|
|
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)
|
rs2511185748
|
|
|
NM_018263.6(ASXL2):c.1397C>T (p.Ser466Phe)
|
rs2465314900
|
|
|
NM_018263.6(ASXL2):c.2157_2158del (p.Arg719fs)
|
rs2465307144
|
|
|
NM_018263.6(ASXL2):c.2806A>G (p.Asn936Asp)
|
rs2087877103
|
|
|
NM_018263.6(ASXL2):c.3706C>T (p.Pro1236Ser)
|
rs2465303281
|
|
|
NM_018263.6(ASXL2):c.3869G>A (p.Ser1290Asn)
|
rs2149135782
|
|
|
NM_018263.6(ASXL2):c.883C>A (p.Leu295Ile)
|
rs2149146452
|
|
|
NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr)
|
rs139377441
|
|
|
NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)
|
rs557931293
|
|
|
NM_018341.3(ERMARD):c.1819G>C (p.Gly607Arg)
|
rs753052792
|
|
|
NM_018417.6(ADCY10):c.1787T>C (p.Leu596Pro)
|
rs2525390054
|
|
|
NM_018417.6(ADCY10):c.2585C>G (p.Ala862Gly)
|
rs769970851
|
|
|
NM_018417.6(ADCY10):c.4483-12_4484del
|
rs2524826687
|
|
|
NM_018417.6(ADCY10):c.710T>C (p.Met237Thr)
|
rs2526043357
|
|
|
NM_018451.5(CPAP):c.3081G>T (p.Gln1027His)
|
rs1593540180
|
|
|
NM_018451.5(CPAP):c.568+7T>G
|
rs1258929370
|
|
|
NM_018451.5(CPAP):c.745C>G (p.His249Asp)
|
rs2541712266
|
|
|
NM_018475.5(TMEM165):c.196G>T (p.Ala66Ser)
|
rs1050707381
|
|
|
NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln)
|
rs2520356073
|
|
|
NM_018489.3(ASH1L):c.1541A>T (p.Tyr514Phe)
|
rs570668202
|
|
|
NM_018489.3(ASH1L):c.1982G>A (p.Ser661Asn)
|
rs1665907640
|
|
|
NM_018489.3(ASH1L):c.2707A>T (p.Met903Leu)
|
rs1665853650
|
|
|
NM_018489.3(ASH1L):c.3034G>A (p.Gly1012Arg)
|
rs767256816
|
|
|
NM_018489.3(ASH1L):c.4720C>T (p.Pro1574Ser)
|
rs1553264855
|
|
|
NM_018489.3(ASH1L):c.473A>G (p.Gln158Arg)
|
rs2527210849
|
|
|
NM_018489.3(ASH1L):c.5413C>G (p.Arg1805Gly)
|
rs780279320
|
|
|
NM_018489.3(ASH1L):c.6302G>A (p.Arg2101Lys)
|
rs1258595268
|
|
|
NM_018489.3(ASH1L):c.7051G>A (p.Glu2351Lys)
|
rs2148370703
|
|
|
NM_018489.3(ASH1L):c.71C>T (p.Ser24Phe)
|
rs2524745304
|
|
|
NM_018489.3(ASH1L):c.779G>T (p.Gly260Val)
|
rs1163166966
|
|
|
NM_018489.3(ASH1L):c.886G>C (p.Ala296Pro)
|
rs1338133463
|
|
|
NM_018489.3(ASH1L):c.8871C>G (p.Ile2957Met)
|
rs1399760947
|
|
|
NM_018518.5(MCM10):c.2332C>A (p.Arg778Ser)
|
rs149109470
|
|
|
NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn)
|
rs757050801
|
|
|
NM_018662.3(DISC1):c.615dup (p.Phe206fs)
|
rs2545158616
|
|
|
NM_018668.5(VPS33B):c.1529C>T (p.Ala510Val)
|
rs1290979530
|
|
|
NM_018669.6(WDR4):c.749C>T (p.Ala250Val)
|
rs1044533826
|
|
|
NM_018684.4(ZC4H2):c.591C>A (p.His197Gln)
|
rs2519690092
|
|
|
NM_018684.4(ZC4H2):c.613C>G (p.Leu205Val)
|
rs2519690057
|
|
|
NM_018684.4(ZC4H2):c.658C>T (p.Arg220Trp)
|
rs2519689942
|
|
|
NM_018685.5(ANLN):c.896C>A (p.Ser299Tyr)
|
rs1562792204
|
|
|
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
|
rs1396791897
|
|
|
NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu)
|
rs139836411
|
|
|
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr)
|
rs150941982
|
|
|
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln)
|
rs1057521725
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
|
NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)
|
rs781050726
|
|
|
NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)
|
rs2546756346
|
|
|
NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)
|
rs780882833
|
|
|
NM_018838.5(NDUFA12):c.83dup (p.Arg29fs)
|
rs1259705655
|
|
|
NM_018842.5(BAIAP2L1):c.1442C>T (p.Ala481Val)
|
rs1800082754
|
|
|
NM_018896.5(CACNA1G):c.1433C>A (p.Pro478His)
|
rs867065467
|
|
|
NM_018896.5(CACNA1G):c.1540G>A (p.Ala514Thr)
|
rs2144888424
|
|
|
NM_018896.5(CACNA1G):c.5558A>C (p.His1853Pro)
|
rs2545761244
|
|
|
NM_018896.5(CACNA1G):c.578G>A (p.Arg193Gln)
|
rs1232597663
|
|
|
NM_018896.5(CACNA1G):c.6040_6043del (p.Leu2014fs)
|
rs1336383362
|
|
|
NM_018896.5(CACNA1G):c.6272A>G (p.Tyr2091Cys)
|
rs2545880332
|
|
|
NM_018896.5(CACNA1G):c.6948dup (p.Glu2317fs)
|
rs766047428
|
|
|
NM_018941.4(CLN8):c.544-3C>T
|
rs2486488203
|
|
|
NM_018941.4(CLN8):c.601T>A (p.Phe201Ile)
|
rs2486488760
|
|
|
NM_018942.3(HMX1):c.3G>T (p.Met1Ile)
|
rs1252635921
|
|
|
NM_018946.4(NANS):c.937A>G (p.Thr313Ala)
|
rs140439077
|
|
|
NM_018965.4(TREM2):c.203A>T (p.Asn68Ile)
|
rs1018859599
|
|
|
NM_018979.4(WNK1):c.2692A>T (p.Thr898Ser)
|
rs777908830
|
|
|
NM_018979.4(WNK1):c.4882C>T (p.Pro1628Ser)
|
rs1953585107
|
|
|
NM_018993.4(RIN2):c.1555G>C (p.Ala519Pro)
|
rs2515517681
|
|
|
NM_018993.4(RIN2):c.2492del (p.Pro831fs)
|
rs2515658423
|
|
|
NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=)
|
rs771709345
|
|
|
NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala)
|
rs755088778
|
|
|
NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)
|
rs1044113961
|
|
|
NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)
|
rs905807145
|
|
|
NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)
|
rs2503981190
|
|
|
NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)
|
rs986429293
|
|
|
NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)
|
rs2503985835
|
|
|
NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)
|
rs1026040057
|
|
|
NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)
|
rs2503978304
|
|
|
NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)
|
rs1249139977
|
|
|
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser)
|
rs1343066533
|
|
|
NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)
|
rs2503976337
|
|
|
NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)
|
rs2503975340
|
|
|
NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)
|
rs1413703384
|
|
|
NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)
|
rs368278417
|
|
|
NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)
|
rs2503973299
|
|
|
NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)
|
rs2503984554
|
|
|
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
|
rs1176104366
|
|
|
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
|
rs541606785
|
|
|
NM_019077.3(UGT1A7):c.192G>A (p.Trp64Ter)
|
rs2471565797
|
|
|
NM_019077.3(UGT1A7):c.503del (p.Phe168fs)
|
rs774543816
|
|
|
NM_019096.5(GTPBP2):c.1470C>T (p.Gly490=)
|
rs2532564929
|
|
|
NM_019096.5(GTPBP2):c.611C>A (p.Ala204Asp)
|
rs2532597472
|
|
|
NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met)
|
rs1387724727
|
|
|
NM_019108.4(SMG9):c.106G>A (p.Gly36Ser)
|
rs1219967228
|
|
|
NM_019108.4(SMG9):c.611T>A (p.Val204Glu)
|
rs778572007
|
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
|
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
|
rs2505860045
|
|
|
NM_019112.4(ABCA7):c.4357C>G (p.Arg1453Gly)
|
rs144562001
|
|
|
NM_019112.4(ABCA7):c.6138del (p.Glu2046fs)
|
rs2042954792
|
|
|
NM_019590.5(KIAA1217):c.4208T>C (p.Ile1403Thr)
|
rs2544712713
|
|
|
NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys)
|
rs1928846641
|
|
|
NM_019616.4(F7):c.442C>T (p.Arg148Cys)
|
rs779834113
|
|
|
NM_019842.4(KCNQ5):c.1248-3590A>G
|
rs1320566419
|
|
|
NM_019842.4(KCNQ5):c.2285G>A (p.Arg762Lys)
|
rs2533931541
|
|
|
NM_019844.4(SLCO1B3):c.1241C>A (p.Thr414Asn)
|
rs146940490
|
|
|
NM_019844.4(SLCO1B3):c.170_174del (p.Arg57fs)
|
rs2497615183
|
|
|
NM_019844.4(SLCO1B3):c.2020T>A (p.Leu674Ile)
|
rs2497753484
|
|
|
NM_019844.4(SLCO1B3):c.446_448del (p.Ser149del)
|
rs776456205
|
|
|
NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter)
|
rs148382606
|
|
|
NM_019888.3(MC3R):c.658C>G (p.Arg220Gly)
|
rs61735259
|
|
|
NM_020041.3(SLC2A9):c.1105G>A (p.Val369Ile)
|
rs560972980
|
|
|
NM_020041.3(SLC2A9):c.1339C>T (p.Arg447Trp)
|
rs544017062
|
|
|
NM_020041.3(SLC2A9):c.62C>T (p.Thr21Ile)
|
rs748372830
|
|
|
NM_020041.3(SLC2A9):c.94G>A (p.Ala32Thr)
|
rs2547299562
|
|
|
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)
|
rs1477872332
|
|
|
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
|
rs766883382
|
|
|
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val)
|
rs1475178774
|
|
|
NM_020134.4(DPYSL5):c.158C>G (p.Ala53Gly)
|
rs2465425370
|
|
|
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
|
rs1714092180
|
|
|
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
|
rs2108470326
|
|
|
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
|
rs1475797798
|
|
|
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val)
|
rs772547872
|
|
|
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
|
rs754963220
|
|
|
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
|
rs186209189
|
|
|
NM_020166.5(MCCC1):c.763C>A (p.His255Asn)
|
rs952365421
|
|
|
NM_020180.4(CELF4):c.808C>T (p.Gln270Ter)
|
rs2517696676
|
|
|
NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)
|
rs2510995333
|
|
|
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)
|
rs778948697
|
|
|
NM_020297.4(ABCC9):c.3893A>T (p.Asp1298Val)
|
rs750024025
|
|
|
NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)
|
rs2483015534
|
|
|
NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)
|
rs201693843
|
|
|
NM_020335.3(VANGL2):c.233C>T (p.Thr78Ile)
|
rs1651161830
|
|
|
NM_020335.3(VANGL2):c.986C>T (p.Ala329Val)
|
rs1001459139
|
|
|
NM_020336.4(RALGAPB):c.3920C>G (p.Pro1307Arg)
|
rs2516673434
|
|
|
NM_020338.4(ZMIZ1):c.1297G>A (p.Ala433Thr)
|
rs971648185
|
|
|
NM_020338.4(ZMIZ1):c.1475A>G (p.Gln492Arg)
|
rs903480412
|
|
|
NM_020338.4(ZMIZ1):c.1924G>C (p.Gly642Arg)
|
rs1854251252
|
|
|
NM_020361.5(CPA6):c.1090G>T (p.Val364Leu)
|
rs754011349
|
|
|
NM_020361.5(CPA6):c.939C>G (p.His313Gln)
|
rs978961467
|
|
|
NM_020366.4(RPGRIP1):c.473C>G (p.Pro158Arg)
|
rs368528161
|
|
|
NM_020366.4(RPGRIP1):c.800G>T (p.Arg267Leu)
|
rs758239674
|
|
|
NM_020376.4(PNPLA2):c.1142C>T (p.Ala381Val)
|
rs1414227017
|
|
|
NM_020376.4(PNPLA2):c.1226C>G (p.Pro409Arg)
|
rs549863849
|
|
|
NM_020376.4(PNPLA2):c.1251G>C (p.Glu417Asp)
|
rs1187663359
|
|
|
NM_020376.4(PNPLA2):c.1416_1475del (p.Asp473_Ala492del)
|
rs2495569182
|
|
|
NM_020376.4(PNPLA2):c.1435C>A (p.His479Asn)
|
rs936694524
|
|
|
NM_020376.4(PNPLA2):c.1447_1451del (p.Gly483fs)
|
rs1565091947
|
|
|
NM_020376.4(PNPLA2):c.1450C>A (p.Pro484Thr)
|
rs771586238
|
|
|
NM_020376.4(PNPLA2):c.1454C>T (p.Ala485Val)
|
rs1231847512
|
|
|
NM_020376.4(PNPLA2):c.1457C>A (p.Pro486His)
|
rs1274843840
|
|
|
NM_020376.4(PNPLA2):c.1457C>G (p.Pro486Arg)
|
rs1274843840
|
|
|
NM_020376.4(PNPLA2):c.1459T>G (p.Leu487Val)
|
rs541287299
|
|
|
NM_020376.4(PNPLA2):c.1484C>T (p.Ala495Val)
|
rs761924298
|
|
|
NM_020376.4(PNPLA2):c.229C>T (p.Arg77Trp)
|
rs769223022
|
|
|
NM_020376.4(PNPLA2):c.279C>G (p.Ile93Met)
|
rs2495553386
|
|
|
NM_020376.4(PNPLA2):c.467C>T (p.Pro156Leu)
|
rs200260812
|
|
|
NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys)
|
rs772999318
|
|
|
NM_020376.4(PNPLA2):c.568G>A (p.Glu190Lys)
|
rs1395689685
|
|
|
NM_020376.4(PNPLA2):c.665T>C (p.Leu222Pro)
|
rs2495556194
|
|
|
NM_020376.4(PNPLA2):c.752G>A (p.Arg251Gln)
|
rs988744471
|
|
|
NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr)
|
rs569211679
|
|
|
NM_020376.4(PNPLA2):c.787G>T (p.Ala263Ser)
|
rs569211679
|
|
|
NM_020376.4(PNPLA2):c.908G>A (p.Arg303Gln)
|
rs754108863
|
|
|
NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)
|
rs2482784613
|
|
|
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)
|
rs782439454
|
|
|
NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)
|
rs1412561354
|
|
|
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
|
rs772526418
|
|
|
NM_020435.4(GJC2):c.343C>T (p.Arg115Cys)
|
rs2124966245
|
|
|
NM_020435.4(GJC2):c.659G>A (p.Arg220Lys)
|
rs2527876868
|
|
|
NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)
|
rs2527877237
|
|
|
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)
|
rs767770438
|
|
|
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)
|
rs770747626
|
|
|
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup)
|
rs999744359
|
|
|
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
|
rs2525000338
|
|
|
NM_020451.3(SELENON):c.1350C>G (p.Ile450Met)
|
rs797045949
|
|
|
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val)
|
rs200431320
|
|
|
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)
|
rs767530943
|
|
|
NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys)
|
rs727504149
|
|
|
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del)
|
rs1247672340
|
|
|
NM_020451.3(SELENON):c.184-3C>T
|
rs1035976243
|
|
|
NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)
|
rs2524958104
|
|
|
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys)
|
rs1019702401
|
|
|
NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)
|
rs2047857492
|
|
|
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser)
|
rs1329648911
|
|
|
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu)
|
rs745856385
|
|
|
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp)
|
rs374195814
|
|
|
NM_020451.3(SELENON):c.816G>C (p.Gln272His)
|
rs772673181
|
|
|
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
|
rs945683594
|
|
|
NM_020461.4(TUBGCP6):c.1594T>C (p.Tyr532His)
|
rs754086944
|
|
|
NM_020461.4(TUBGCP6):c.1956C>T (p.Arg652=)
|
rs2519151963
|
|
|
NM_020461.4(TUBGCP6):c.3452T>G (p.Val1151Gly)
|
rs2519135115
|
|
|
NM_020461.4(TUBGCP6):c.3914C>A (p.Ala1305Glu)
|
rs534573320
|
|
|
NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys)
|
rs780815318
|
|
|
NM_020533.3(MCOLN1):c.1002G>T (p.Met334Ile)
|
rs150778171
|
|
|
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met)
|
rs533289708
|
|
|
NM_020549.5(CHAT):c.1198G>C (p.Asp400His)
|
rs8178991
|
|
|
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp)
|
rs778801148
|
|
|
NM_020549.5(CHAT):c.178C>T (p.His60Tyr)
|
rs959739791
|
|
|
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)
|
rs116097791
|
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
|
NM_020549.5(CHAT):c.279G>C (p.Arg93Ser)
|
rs1458230921
|
|
|
NM_020549.5(CHAT):c.314G>T (p.Gly105Val)
|
rs149711635
|
|
|
NM_020549.5(CHAT):c.335T>G (p.Leu112Arg)
|
rs1380289034
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
|
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu)
|
rs749662741
|
|
|
NM_020549.5(CHAT):c.91G>A (p.Val31Met)
|
rs1005755959
|
|
|
NM_020631.6(PLEKHG5):c.915_923del (p.Glu305_Glu307del)
|
rs1557744136
|
|
|
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
|
rs746368892
|
|
|
NM_020699.4(GATAD2B):c.1106C>T (p.Pro369Leu)
|
rs747157093
|
|
|
NM_020699.4(GATAD2B):c.587T>C (p.Val196Ala)
|
rs1033481127
|
|
|
NM_020708.5(SLC12A5):c.1846T>C (p.Tyr616His)
|
rs1313957849
|
|
|
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)
|
rs201268862
|
|
|
NM_020708.5(SLC12A5):c.2888G>A (p.Ser963Asn)
|
rs2515653623
|
|
|
NM_020717.5(SHROOM4):c.1744C>T (p.Arg582Trp)
|
rs1237356822
|
|
|
NM_020717.5(SHROOM4):c.2906G>A (p.Gly969Glu)
|
rs2519317922
|
|
|
NM_020717.5(SHROOM4):c.3044A>G (p.Tyr1015Cys)
|
rs2519258599
|
|
|
NM_020717.5(SHROOM4):c.3317C>T (p.Pro1106Leu)
|
rs1487836605
|
|
|
NM_020717.5(SHROOM4):c.384G>A (p.Trp128Ter)
|
rs147590774
|
|
|
NM_020717.5(SHROOM4):c.4201A>C (p.Asn1401His)
|
rs2519229722
|
|
|
NM_020719.3(PRR12):c.2405T>A (p.Leu802His)
|
rs1426875771
|
|
|
NM_020719.3(PRR12):c.577C>G (p.Pro193Ala)
|
rs2514269699
|
|
|
NM_020738.4(KIDINS220):c.149A>G (p.Asn50Ser)
|
rs1677469694
|
|
|
NM_020738.4(KIDINS220):c.2807C>G (p.Pro936Arg)
|
rs202054411
|
|
|
NM_020738.4(KIDINS220):c.3295C>A (p.Pro1099Thr)
|
rs753544675
|
|
|
NM_020738.4(KIDINS220):c.4487C>G (p.Ser1496Cys)
|
rs2527402507
|
|
|
NM_020745.4(AARS2):c.1261C>T (p.Arg421Trp)
|
rs745716389
|
|
|
NM_020754.4(ARHGAP31):c.1063G>T (p.Val355Leu)
|
rs1329102498
|
|
|
NM_020754.4(ARHGAP31):c.3223G>A (p.Val1075Met)
|
rs777789268
|
|
|
NM_020765.3(UBR4):c.1178G>A (p.Ser393Asn)
|
rs2535133913
|
|
|
NM_020765.3(UBR4):c.13391-1G>A
|
rs2525182342
|
|
|
NM_020771.4(HACE1):c.1015A>G (p.Ser339Gly)
|
rs2483332786
|
|
|
NM_020771.4(HACE1):c.145CTA[1] (p.Leu50del)
|
rs1776145803
|
|
|
NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)
|
rs1284392357
|
|
|
NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)
|
rs2505706780
|
|
|
NM_020778.5(ALPK3):c.2198G>A (p.Gly733Asp)
|
rs567079042
|
|
|
NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)
|
rs1000753658
|
|
|
NM_020779.4(WDR35):c.1543A>G (p.Ile515Val)
|
rs1210896296
|
|
|
NM_020779.4(WDR35):c.2823G>A (p.Lys941=)
|
rs2103398260
|
|
|
NM_020779.4(WDR35):c.3070C>G (p.Leu1024Val)
|
rs1670489854
|
|
|
NM_020779.4(WDR35):c.437G>C (p.Gly146Ala)
|
rs2527957425
|
|
|
NM_020780.2(DISP3):c.1854_1855del (p.Tyr619fs)
|
rs751646013
|
|
|
NM_020791.4(TAOK1):c.2431C>G (p.Leu811Val)
|
rs372060471
|
|
|
NM_020806.5(GPHN):c.42A>C (p.Gln14His)
|
rs750981506
|
|
|
NM_020812.4(DOCK6):c.100C>G (p.His34Asp)
|
rs201065561
|
|
|
NM_020812.4(DOCK6):c.3616A>G (p.Ile1206Val)
|
rs2513012688
|
|
|
NM_020821.3(VPS13C):c.3329A>G (p.Gln1110Arg)
|
rs1397099689
|
|
|
NM_020821.3(VPS13C):c.5971G>A (p.Val1991Ile)
|
rs2044042204
|
|
|
NM_020822.3(KCNT1):c.1136G>T (p.Ser379Ile)
|
rs1481122214
|
|
|
NM_020822.3(KCNT1):c.1223G>A (p.Cys408Tyr)
|
rs2490907855
|
|
|
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp)
|
rs373755663
|
|
|
NM_020822.3(KCNT1):c.1391G>A (p.Arg464His)
|
rs2490942273
|
|
|
NM_020822.3(KCNT1):c.2188G>C (p.Asp730His)
|
rs752598622
|
|
|
NM_020822.3(KCNT1):c.2197G>A (p.Glu733Lys)
|
rs771824661
|
|
|
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
|
rs1161728281
|
|
|
NM_020822.3(KCNT1):c.32G>C (p.Gly11Ala)
|
rs1003586835
|
|
|
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
|
rs542409033
|
|
|
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
|
rs771068120
|
|
|
NM_020822.3(KCNT1):c.940A>G (p.Thr314Ala)
|
rs2490861191
|
|
|
NM_020829.4(RIC1):c.2475G>T (p.Gln825His)
|
rs149258225
|
|
|
NM_020843.4(SCAPER):c.1250C>T (p.Ser417Phe)
|
rs2063159864
|
|
|
NM_020843.4(SCAPER):c.1883T>C (p.Phe628Ser)
|
rs2545502117
|
|
|
NM_020919.4(ALS2):c.1618G>A (p.Gly540Arg)
|
rs2469890434
|
|
|
NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)
|
rs1178926772
|
|
|
NM_020928.2(ZSWIM6):c.142G>C (p.Ala48Pro)
|
rs1244678082
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.2381+5G>A
|
rs2478379784
|
|
|
NM_020928.2(ZSWIM6):c.535_537delinsTCG (p.Ala179Ser)
|
rs2478708370
|
|
|
NM_020928.2(ZSWIM6):c.7G>C (p.Glu3Gln)
|
rs1291036973
|
|
|
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup)
|
rs528020839
|
|
|
NM_020937.4(FANCM):c.1211G>T (p.Gly404Val)
|
rs1887059427
|
|
|
NM_020937.4(FANCM):c.153G>A (p.Glu51=)
|
rs2503033827
|
|
|
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del)
|
rs1566716075
|
|
|
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)
|
rs765421461
|
|
|
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)
|
rs750054758
|
|
|
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
|
rs1431465478
|
|
|
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro)
|
rs2050036468
|
|
|
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
|
rs2511641482
|
|
|
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
|
rs2511592358
|
|
|
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
|
rs748003451
|
|
|
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
|
rs2511566619
|
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
|
NM_020971.3(SPTBN4):c.3652C>A (p.Gln1218Lys)
|
rs2515057845
|
|
|
NM_020971.3(SPTBN4):c.6594C>G (p.Ile2198Met)
|
rs2515228205
|
|
|
NM_020975.6(RET):c.1141T>C (p.Phe381Leu)
|
rs781362020
|
|
|
NM_020975.6(RET):c.1146G>A (p.Gln382=)
|
rs770637118
|
|
|
NM_020975.6(RET):c.209A>G (p.Gln70Arg)
|
rs1329573334
|
|
|
NM_020987.5(ANK3):c.2911G>A (p.Asp971Asn)
|
rs568713836
|
|
|
NM_020987.5(ANK3):c.4345G>T (p.Asp1449Tyr)
|
rs2085437362
|
|
|
NM_020987.5(ANK3):c.569C>T (p.Ser190Leu)
|
rs868365286
|
|
|
NM_020988.3(GNAO1):c.170A>G (p.His57Arg)
|
rs2506745222
|
|
|
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr)
|
rs2143704776
|
|
|
NM_020998.4(MST1):c.1502dup (p.His502fs)
|
rs2544648343
|
|
|
NM_020999.4(NEUROG3):c.221A>G (p.Glu74Gly)
|
rs750686014
|
|
|
NM_021008.4(DEAF1):c.1489G>C (p.Ala497Pro)
|
rs762338624
|
|
|
NM_021008.4(DEAF1):c.1642G>C (p.Val548Leu)
|
rs1472386316
|
|
|
NM_021008.4(DEAF1):c.56_91del (p.Val19_Ala30del)
|
rs770980414
|
|
|
NM_021008.4(DEAF1):c.760A>G (p.Arg254Gly)
|
rs2494448591
|
|
|
NM_021008.4(DEAF1):c.955C>A (p.Pro319Thr)
|
rs978670753
|
|
|
NM_021067.5(GINS1):c.418A>T (p.Met140Leu)
|
rs1270895165
|
|
|
NM_021072.4(HCN1):c.116T>A (p.Leu39Gln)
|
rs2478644839
|
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.203GCG[9] (p.Gly73_Gly74dup)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.2086C>T (p.Pro696Ser)
|
rs1744767423
|
|
|
NM_021072.4(HCN1):c.2488G>A (p.Gly830Arg)
|
rs1484753978
|
|
|
NM_021072.4(HCN1):c.287G>A (p.Arg96Lys)
|
rs1739997160
|
|
|
NM_021072.4(HCN1):c.731A>G (p.Asp244Gly)
|
rs2478543297
|
|
|
NM_021074.5(NDUFV2):c.121-3T>C
|
rs2510151140
|
|
|
NM_021074.5(NDUFV2):c.579+1G>A
|
rs2510155673
|
|
|
NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg)
|
rs77606940
|
|
|
NM_021076.4(NEFH):c.1516G>A (p.Ala506Thr)
|
rs2517976951
|
|
|
NM_021076.4(NEFH):c.2369AGG[2] (p.Glu792del)
|
rs1569198032
|
|
|
NM_021076.4(NEFH):c.337del (p.Asp113fs)
|
rs2517968557
|
|
|
NM_021083.4(XK):c.100C>G (p.Arg34Gly)
|
rs1927063580
|
|
|
NM_021083.4(XK):c.335A>G (p.Asn112Ser)
|
rs1556442145
|
|
|
NM_021083.4(XK):c.85C>G (p.Arg29Gly)
|
rs2519135562
|
|
|
NM_021096.4(CACNA1I):c.1306GAG[1] (p.Glu437del)
|
rs772713678
|
|
|
NM_021096.4(CACNA1I):c.3023C>T (p.Ser1008Phe)
|
rs1186581743
|
|
|
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
|
rs185769412
|
|
|
NM_021098.3(CACNA1H):c.2051C>G (p.Pro684Arg)
|
rs767983680
|
|
|
NM_021098.3(CACNA1H):c.2858A>C (p.Asp953Ala)
|
rs2548678683
|
|
|
NM_021098.3(CACNA1H):c.422C>G (p.Ala141Gly)
|
rs1304766813
|
|
|
NM_021098.3(CACNA1H):c.5158C>T (p.Leu1720Phe)
|
rs1481880978
|
|
|
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser)
|
rs1567495146
|
|
|
NM_021098.3(CACNA1H):c.5486_5498del (p.Leu1829fs)
|
rs2548728096
|
|
|
NM_021120.4(DLG3):c.209G>C (p.Arg70Pro)
|
rs1195418769
|
|
|
NM_021120.4(DLG3):c.248G>A (p.Gly83Glu)
|
rs2147765084
|
|
|
NM_021120.4(DLG3):c.293T>C (p.Leu98Pro)
|
rs2519725566
|
|
|
NM_021133.4(RNASEL):c.1481-1G>T
|
rs2526832467
|
|
|
NM_021147.5(CCNO):c.491T>C (p.Phe164Ser)
|
rs755937476
|
|
|
NM_021224.6(ZNF462):c.1298G>C (p.Arg433Thr)
|
rs2538731823
|
|
|
NM_021252.5(RAB18):c.103C>T (p.Pro35Ser)
|
rs2491605143
|
|
|
NM_021252.5(RAB18):c.199C>G (p.Gln67Glu)
|
rs2491650676
|
|
|
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
|
rs2548803720
|
|
|
NM_021625.5(TRPV4):c.469A>G (p.Ile157Val)
|
rs1592853358
|
|
|
NM_021625.5(TRPV4):c.559+1G>A
|
rs2548785942
|
|
|
NM_021625.5(TRPV4):c.847T>C (p.Tyr283His)
|
rs200210023
|
|
|
NM_021629.4(GNB4):c.431-2A>T
|
rs2473901679
|
|
|
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)
|
rs1020090528
|
|
|
NM_021728.4(OTX2):c.305_313del (p.Arg102_Gln104del)
|
rs2503898858
|
|
|
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)
|
rs2533711341
|
|
|
NM_021815.5(SLC5A7):c.1298A>G (p.Tyr433Cys)
|
rs1328615722
|
|
|
NM_021821.4(MRPS35):c.34_35del (p.Leu12fs)
|
rs2545637784
|
|
|
NM_021830.5(TWNK):c.1306G>C (p.Gly436Arg)
|
rs863223922
|
|
|
NM_021830.5(TWNK):c.1639A>G (p.Thr547Ala)
|
rs2493642336
|
|
|
NM_021833.5(UCP1):c.365C>T (p.Thr122Met)
|
rs149333659
|
|
|
NM_021870.3(FGG):c.661C>A (p.Gln221Lys)
|
rs2530861293
|
|
|
NM_021871.4(FGA):c.1880G>A (p.Arg627His)
|
rs762123879
|
|
|
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
|
rs2533657331
|
|
|
NM_021939.4(FKBP10):c.419T>G (p.Leu140Arg)
|
rs2544432520
|
|
|
NM_021939.4(FKBP10):c.894G>A (p.Met298Ile)
|
rs375198487
|
|
|
NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln)
|
rs2476850524
|
|
|
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu)
|
rs1328121937
|
|
|
NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val)
|
rs1218400275
|
|
|
NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)
|
rs1735847642
|
|
|
NM_021942.6(TRAPPC11):c.1681G>T (p.Ala561Ser)
|
rs2476876972
|
|
|
NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser)
|
rs1323808094
|
|
|
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu)
|
rs1734713616
|
|
|
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu)
|
rs1415116624
|
|
|
NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala)
|
rs772669240
|
|
|
NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His)
|
rs2476909883
|
|
|
NM_021942.6(TRAPPC11):c.2170A>G (p.Lys724Glu)
|
rs778401752
|
|
|
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys)
|
rs149626892
|
|
|
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala)
|
rs1219763538
|
|
|
NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile)
|
rs1162953912
|
|
|
NM_021942.6(TRAPPC11):c.2989A>G (p.Ile997Val)
|
rs1736984055
|
|
|
NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr)
|
rs1445366637
|
|
|
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe)
|
rs79057512
|
|
|
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu)
|
rs762555782
|
|
|
NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser)
|
rs750808098
|
|
|
NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile)
|
rs1222392420
|
|
|
NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val)
|
rs373207427
|
|
|
NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg)
|
rs2476839556
|
|
|
NM_021964.3(ZNF148):c.123G>C (p.Glu41Asp)
|
rs775253164
|
|
|
NM_021964.3(ZNF148):c.799A>C (p.Thr267Pro)
|
rs2472628995
|
|
|
NM_021969.3(NR0B2):c.157_166del (p.His53fs)
|
rs540387719
|
|
|
NM_021971.4(GMPPB):c.187G>A (p.Glu63Lys)
|
rs2544757336
|
|
|
NM_021971.4(GMPPB):c.23G>A (p.Gly8Glu)
|
rs2544758232
|
|
|
NM_021971.4(GMPPB):c.418G>C (p.Glu140Gln)
|
rs2544754892
|
|
|
NM_021971.4(GMPPB):c.461G>A (p.Gly154Asp)
|
rs2080436341
|
|
|
NM_021971.4(GMPPB):c.481_483del (p.Glu161del)
|
rs766831711
|
|
|
NM_021971.4(GMPPB):c.516C>G (p.Asn172Lys)
|
rs147672249
|
|
|
NM_021971.4(GMPPB):c.554G>T (p.Arg185Leu)
|
rs755165049
|
|
|
NM_021971.4(GMPPB):c.686T>C (p.Met229Thr)
|
rs2544753393
|
|
|
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
|
rs1436093055
|
|
|
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp)
|
rs994922049
|
|
|
NM_021971.4(GMPPB):c.791A>G (p.Gln264Arg)
|
rs1304295361
|
|
|
NM_021971.4(GMPPB):c.952-18_952-17delinsTT
|
rs2544751816
|
|
|
NM_021971.4(GMPPB):c.952-22C>G
|
rs764575305
|
|
|
NM_021971.4(GMPPB):c.952-38G>C
|
rs1229132200
|
|
|
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)
|
rs371616275
|
|
|
NM_022042.4(SLC26A1):c.311C>T (p.Thr104Met)
|
rs751574638
|
|
|
NM_022042.4(SLC26A1):c.415C>T (p.Arg139Trp)
|
rs552862956
|
|
|
NM_022051.3(EGLN1):c.826A>G (p.Met276Val)
|
rs2527358404
|
|
|
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
|
rs370421723
|
|
|
NM_022089.4(ATP13A2):c.352G>A (p.Glu118Lys)
|
rs756152157
|
|
|
NM_022095.4(ZNF335):c.3887_3888del (p.His1296fs)
|
rs2083580226
|
|
|
NM_022114.4(PRDM16):c.2907C>T (p.His969=)
|
rs2523914949
|
|
|
NM_022114.4(PRDM16):c.3619G>A (p.Glu1207Lys)
|
rs1638783475
|
|
|
NM_022124.6(CDH23):c.3484G>A (p.Gly1162Arg)
|
rs2494152444
|
|
|
NM_022124.6(CDH23):c.407C>A (p.Pro136His)
|
rs2493197630
|
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
rs2530808483
|
|
|
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
|
rs1025436330
|
|
|
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
|
rs757389984
|
|
|
NM_022140.5(EPB41L4A):c.1850+2dup
|
rs2531718982
|
|
|
NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)
|
rs2032522623
|
|
|
NM_022168.4(IFIH1):c.1362TAA[1] (p.Asn456del)
|
rs2468964319
|
|
|
NM_022168.4(IFIH1):c.144_148del (p.Arg48fs)
|
rs2469006270
|
|
|
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
|
rs774888783
|
|
|
NM_022168.4(IFIH1):c.1943del (p.Gly648fs)
|
rs751231371
|
|
|
NM_022168.4(IFIH1):c.2047A>C (p.Asn683His)
|
rs2468958374
|
|
|
NM_022168.4(IFIH1):c.2296A>C (p.Met766Leu)
|
rs751588218
|
|
|
NM_022168.4(IFIH1):c.2483G>C (p.Ser828Thr)
|
rs372817657
|
|
|
NM_022168.4(IFIH1):c.26A>G (p.Glu9Gly)
|
rs2469006574
|
|
|
NM_022168.4(IFIH1):c.791A>G (p.Glu264Gly)
|
rs2468978165
|
|
|
NM_022173.4(TIA1):c.1024C>G (p.Gln342Glu)
|
rs2466460421
|
|
|
NM_022173.4(TIA1):c.188T>C (p.Leu63Ser)
|
rs2104450188
|
|
|
NM_022173.4(TIA1):c.272C>A (p.Thr91Lys)
|
rs1306434191
|
|
|
NM_022173.4(TIA1):c.487G>A (p.Ala163Thr)
|
rs139154867
|
|
|
NM_022173.4(TIA1):c.803C>T (p.Ser268Phe)
|
rs2466512612
|
|
|
NM_022173.4(TIA1):c.863T>C (p.Leu288Pro)
|
rs1678141237
|
|
|
NM_022173.4(TIA1):c.879del (p.Val294fs)
|
rs2466510144
|
|
|
NM_022356.4(P3H1):c.950A>T (p.Tyr317Phe)
|
rs779722983
|
|
|
NM_022366.3(TFB2M):c.1161G>A (p.Trp387Ter)
|
rs747987612
|
|
|
NM_022436.3(ABCG5):c.1043T>G (p.Leu348Arg)
|
rs374824368
|
|
|
NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val)
|
rs897344189
|
|
|
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)
|
rs115590670
|
|
|
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)
|
rs530616214
|
|
|
NM_022436.3(ABCG5):c.139G>C (p.Val47Leu)
|
rs72542426
|
|
|
NM_022436.3(ABCG5):c.1586T>C (p.Ile529Thr)
|
rs986503686
|
|
|
NM_022436.3(ABCG5):c.1637_1642dup (p.Gly547_Phe548insSerGly)
|
rs763204326
|
|
|
NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys)
|
rs1667984117
|
|
|
NM_022436.3(ABCG5):c.403-5T>A
|
rs549117301
|
|
|
NM_022436.3(ABCG5):c.425T>A (p.Leu142His)
|
rs1345074651
|
|
|
NM_022436.3(ABCG5):c.438G>C (p.Glu146Asp)
|
rs748096191
|
|
|
NM_022436.3(ABCG5):c.833C>A (p.Ala278Glu)
|
rs566982836
|
|
|
NM_022437.3(ABCG8):c.1153T>G (p.Cys385Gly)
|
rs1669805752
|
|
|
NM_022437.3(ABCG8):c.1199C>T (p.Thr400Met)
|
rs4148217
|
|
|
NM_022437.3(ABCG8):c.1270G>T (p.Ala424Ser)
|
rs1219353019
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
|
NM_022437.3(ABCG8):c.1286T>C (p.Met429Thr)
|
rs2466277649
|
|
|
NM_022437.3(ABCG8):c.1375A>G (p.Ile459Val)
|
rs2466278135
|
|
|
NM_022437.3(ABCG8):c.1756+6G>A
|
rs375563605
|
|
|
NM_022437.3(ABCG8):c.1829GAA[1] (p.Arg611del)
|
rs767706636
|
|
|
NM_022437.3(ABCG8):c.1884+1G>T
|
rs199611513
|
|
|
NM_022437.3(ABCG8):c.1898T>C (p.Met633Thr)
|
rs996034901
|
|
|
NM_022437.3(ABCG8):c.398G>C (p.Trp133Ser)
|
rs1668919524
|
|
|
NM_022437.3(ABCG8):c.757A>G (p.Lys253Glu)
|
rs1668966284
|
|
|
NM_022445.4(TPK1):c.20C>T (p.Pro7Leu)
|
rs2485971794
|
|
|
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
|
rs1763175558
|
|
|
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
|
rs1187706413
|
|
|
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
|
rs369956844
|
|
|
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
|
rs2480453231
|
|
|
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
|
rs2149846264
|
|
|
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
|
rs1358404983
|
|
|
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
|
rs751970712
|
|
|
NM_022455.5(NSD1):c.58G>T (p.Val20Leu)
|
rs377302741
|
|
|
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
|
rs1581563557
|
|
|
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
|
rs1026449231
|
|
|
NM_022464.5(SIL1):c.-10-18951A>G
|
rs2546444421
|
|
|
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)
|
rs377150029
|
|
|
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
|
rs377150029
|
|
|
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
|
rs753439841
|
|
|
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
|
rs199921583
|
|
|
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
|
rs199921583
|
|
|
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
|
rs142943842
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
rs138448654
|
|
|
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)
|
rs398124389
|
|
|
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
|
rs2534008178
|
|
|
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
|
rs1387626154
|
|
|
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
|
rs2534008005
|
|
|
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
|
rs370700427
|
|
|
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
|
rs1436886496
|
|
|
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
|
rs751368645
|
|
|
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
|
rs765249454
|
|
|
NM_022482.5(GZF1):c.224C>G (p.Thr75Ser)
|
rs2514892916
|
|
|
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
|
rs1372258814
|
|
|
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
|
rs774484640
|
|
|
NM_022489.4(INF2):c.1972A>T (p.Met658Leu)
|
rs2541929340
|
|
|
NM_022489.4(INF2):c.224A>G (p.Asp75Gly)
|
rs1177510554
|
|
|
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034
|
|
|
NM_022552.5(DNMT3A):c.1077CAA[1] (p.Asn360del)
|
rs2465546867
|
|
|
NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=)
|
rs567230691
|
|
|
NM_022552.5(DNMT3A):c.553A>G (p.Met185Val)
|
rs2465781865
|
|
|
NM_022575.4(VPS16):c.1521del (p.Asn508fs)
|
rs2515130711
|
|
|
NM_022716.4(PRRX1):c.551C>T (p.Ala184Val)
|
rs1655254931
|
|
|
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)
|
rs746120363
|
|
|
NM_022726.4(ELOVL4):c.797A>T (p.Tyr266Phe)
|
rs1483073066
|
|
|
NM_022786.3(ARV1):c.691C>T (p.Arg231Cys)
|
rs545841146
|
|
|
NM_022787.4(NMNAT1):c.51C>A (p.Phe17Leu)
|
rs759364014
|
|
|
NM_022817.3(PER2):c.14C>G (p.Ala5Gly)
|
rs370722908
|
|
|
NM_022817.3(PER2):c.293+1G>T
|
rs777803195
|
|
|
NM_022817.3(PER2):c.3376C>T (p.His1126Tyr)
|
rs2469793345
|
|
|
NM_022841.7(RFX7):c.2147G>C (p.Ser716Thr)
|
rs2140513730
|
|
|
NM_022893.4(BCL11A):c.127C>T (p.His43Tyr)
|
rs2467283305
|
|
|
NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp)
|
rs1010158797
|
|
|
NM_022893.4(BCL11A):c.1727C>T (p.Ala576Val)
|
rs1676248432
|
|
|
NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr)
|
rs775970880
|
|
|
NM_022902.5(SLC30A5):c.719T>G (p.Leu240Ter)
|
rs2531092493
|
|
|
NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys)
|
rs2509752469
|
|
|
NM_023110.3(FGFR1):c.1825C>A (p.Arg609=)
|
rs121909639
|
|
|
NM_023110.3(FGFR1):c.2243A>G (p.Lys748Arg)
|
rs2150521238
|
|
|
NM_023110.3(FGFR1):c.97C>A (p.Pro33Thr)
|
rs1371683958
|
|
|
NM_024027.5(COLEC11):c.508T>C (p.Cys170Arg)
|
rs2528491084
|
|
|
NM_024120.5(NDUFAF5):c.328-3C>T
|
rs2516141758
|
|
|
NM_024120.5(NDUFAF5):c.837G>A (p.Met279Ile)
|
rs2516270805
|
|
|
NM_024301.5(FKRP):c.1037C>T (p.Ser346Leu)
|
rs2513995859
|
|
|
NM_024301.5(FKRP):c.1087G>T (p.Val363Leu)
|
rs886043075
|
|
|
NM_024301.5(FKRP):c.1142C>T (p.Ala381Val)
|
rs752959830
|
|
|
NM_024301.5(FKRP):c.1145A>T (p.Glu382Val)
|
rs756347653
|
|
|
NM_024301.5(FKRP):c.1234dup (p.His412fs)
|
rs2122633849
|
|
|
NM_024301.5(FKRP):c.1424C>T (p.Pro475Leu)
|
rs1468526055
|
|
|
NM_024301.5(FKRP):c.281C>A (p.Pro94His)
|
rs925430989
|
|
|
NM_024301.5(FKRP):c.488C>G (p.Ala163Gly)
|
rs2122616447
|
|
|
NM_024301.5(FKRP):c.650C>A (p.Pro217Gln)
|
rs1311771582
|
|
|
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)
|
rs775681117
|
|
|
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)
|
rs2122621481
|
|
|
NM_024301.5(FKRP):c.821T>C (p.Ile274Thr)
|
rs2054919311
|
|
|
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)
|
rs756205019
|
|
|
NM_024301.5(FKRP):c.928G>A (p.Glu310Lys)
|
rs765885747
|
|
|
NM_024301.5(FKRP):c.931G>A (p.Glu311Lys)
|
rs1483781400
|
|
|
NM_024301.5(FKRP):c.958C>T (p.Arg320Cys)
|
rs2513994719
|
|
|
NM_024301.5(FKRP):c.962_970dup (p.Ala321_Arg323dup)
|
rs886044307
|
|
|
NM_024306.5(FA2H):c.817C>T (p.Pro273Ser)
|
rs1235710043
|
|
|
NM_024312.5(GNPTAB):c.1442G>T (p.Gly481Val)
|
rs2547958790
|
|
|
NM_024312.5(GNPTAB):c.923C>T (p.Ala308Val)
|
rs2547961766
|
|
|
NM_024334.3(TMEM43):c.574C>T (p.Leu192Phe)
|
rs762333890
|
|
|
NM_024407.5(NDUFS7):c.520G>A (p.Val174Met)
|
rs2512213859
|
|
|
NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val)
|
rs781824405
|
|
|
NM_024408.4(NOTCH2):c.3523-5G>A
|
rs2526182528
|
|
|
NM_024408.4(NOTCH2):c.3692G>C (p.Arg1231Pro)
|
rs1366907623
|
|
|
NM_024408.4(NOTCH2):c.3978T>G (p.Pro1326=)
|
rs1004190689
|
|
|
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)
|
rs1131691315
|
|
|
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)
|
rs775412281
|
|
|
NM_024408.4(NOTCH2):c.5324C>T (p.Ala1775Val)
|
rs2526123900
|
|
|
NM_024408.4(NOTCH2):c.6208A>C (p.Ser2070Arg)
|
rs2526108212
|
|
|
NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del)
|
rs1288820640
|
|
|
NM_024409.4(NPPC):c.294C>A (p.Tyr98Ter)
|
rs545188242
|
|
|
NM_024411.5(PDYN):c.718T>A (p.Ser240Thr)
|
rs1222472109
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
|
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)
|
rs760363798
|
|
|
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
|
rs772447450
|
|
|
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
|
rs762722282
|
|
|
NM_024490.4(ATP10A):c.1258_1259delinsAT (p.Gln420Met)
|
rs796568959
|
|
|
NM_024490.4(ATP10A):c.2161C>G (p.Gln721Glu)
|
rs1901592855
|
|
|
NM_024490.4(ATP10A):c.886C>T (p.Arg296Cys)
|
rs147326935
|
|
|
NM_024496.4(IRF2BPL):c.1769G>T (p.Gly590Val)
|
rs746234981
|
|
|
NM_024496.4(IRF2BPL):c.2200C>T (p.Pro734Ser)
|
rs1885088030
|
|
|
NM_024496.4(IRF2BPL):c.264GGC[3] (p.Ala101_Ala102del)
|
rs749636443
|
|
|
NM_024496.4(IRF2BPL):c.375ACA[1] (p.Gln127del)
|
rs749893268
|
|
|
NM_024496.4(IRF2BPL):c.434G>A (p.Gly145Asp)
|
rs769398917
|
|
|
NM_024496.4(IRF2BPL):c.489_491dup (p.Ala164_Val165insAla)
|
rs772565832
|
|
|
NM_024496.4(IRF2BPL):c.54C>G (p.Asp18Glu)
|
rs762295950
|
|
|
NM_024496.4(IRF2BPL):c.781C>G (p.Leu261Val)
|
rs761740313
|
|
|
NM_024528.4(NKAP):c.128G>A (p.Arg43His)
|
rs765861266
|
|
|
NM_024528.4(NKAP):c.143C>G (p.Ser48Cys)
|
rs751840434
|
|
|
NM_024537.4(CARS2):c.1417-2A>C
|
rs2501746531
|
|
|
NM_024537.4(CARS2):c.204del (p.His69fs)
|
rs2502281020
|
|
|
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
|
rs540582352
|
|
|
NM_024577.4(SH3TC2):c.1926_1927delinsTT (p.Leu642_Leu643delinsPhePhe)
|
rs2531772960
|
|
|
NM_024577.4(SH3TC2):c.2110A>T (p.Met704Leu)
|
rs2531772579
|
|
|
NM_024577.4(SH3TC2):c.2560A>G (p.Arg854Gly)
|
rs1458826952
|
|
|
NM_024577.4(SH3TC2):c.2644C>T (p.Leu882Phe)
|
rs1754078350
|
|
|
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)
|
rs1465198831
|
|
|
NM_024589.3(ROGDI):c.531+5G>T
|
rs749657986
|
|
|
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
|
rs199724219
|
|
|
NM_024652.6(LRRK1):c.185A>G (p.Tyr62Cys)
|
rs918823575
|
|
|
NM_024656.4(COLGALT1):c.513C>G (p.Ile171Met)
|
rs2512878180
|
|
|
NM_024665.7(TBL1XR1):c.638A>G (p.His213Arg)
|
rs2473720215
|
|
|
NM_024665.7(TBL1XR1):c.871A>G (p.Ile291Val)
|
rs2473692499
|
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
|
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr)
|
rs876659058
|
|
|
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)
|
rs925044785
|
|
|
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)
|
rs772480747
|
|
|
NM_024678.6(NARS2):c.1339A>G (p.Met447Val)
|
rs953849956
|
|
|
NM_024678.6(NARS2):c.224TTG[1] (p.Val76del)
|
rs1262564997
|
|
|
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
|
rs2540956334
|
|
|
NM_024721.5(ZFHX4):c.9364C>T (p.Pro3122Ser)
|
rs759934471
|
|
|
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp)
|
rs766916912
|
|
|
NM_024757.5(EHMT1):c.1331G>A (p.Arg444Lys)
|
rs2541827177
|
|
|
NM_024757.5(EHMT1):c.1385A>G (p.Lys462Arg)
|
rs2541878351
|
|
|
NM_024757.5(EHMT1):c.230C>A (p.Ala77Glu)
|
rs762442350
|
|
|
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly)
|
rs770735510
|
|
|
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met)
|
rs762121901
|
|
|
NM_024757.5(EHMT1):c.2867+5G>A
|
rs886039703
|
|
|
NM_024757.5(EHMT1):c.324C>G (p.His108Gln)
|
rs574402576
|
|
|
NM_024757.5(EHMT1):c.329C>T (p.Thr110Ile)
|
rs147648583
|
|
|
NM_024757.5(EHMT1):c.755C>A (p.Pro252His)
|
rs775614771
|
|
|
NM_024757.5(EHMT1):c.961C>T (p.His321Tyr)
|
rs2541602074
|
|
|
NM_024782.3(NHEJ1):c.805_806delinsTT (p.Ala269Leu)
|
rs2106319460
|
|
|
NM_024818.6(UBA5):c.419C>G (p.Pro140Arg)
|
rs2530321320
|
|
|
NM_024818.6(UBA5):c.946A>G (p.Lys316Glu)
|
rs2530346945
|
|
|
NM_024876.4(COQ8B):c.1459G>T (p.Ala487Ser)
|
rs751280402
|
|
|
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
|
rs1169639805
|
|
|
NM_024996.7(GFM1):c.1209C>A (p.Ala403=)
|
rs149949638
|
|
|
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
|
rs761392626
|
|
|
NM_025000.4(DCAF17):c.1217G>T (p.Arg406Leu)
|
rs2529800057
|
|
|
NM_025009.5(CEP135):c.1824A>C (p.Lys608Asn)
|
rs778375969
|
|
|
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr)
|
rs199542867
|
|
|
NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=)
|
rs1363836483
|
|
|
NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=)
|
rs770982584
|
|
|
NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser)
|
rs1382329261
|
|
|
NM_025074.7(FRAS1):c.5205C>A (p.His1735Gln)
|
rs533608491
|
|
|
NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr)
|
rs2477268897
|
|
|
NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)
|
rs113732809
|
|
|
NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys)
|
rs922450086
|
|
|
NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala)
|
rs2475787905
|
|
|
NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg)
|
rs527476410
|
|
|
NM_025077.4(TOE1):c.20A>G (p.Asp7Gly)
|
rs2524703276
|
|
|
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
|
rs1987706031
|
|
|
NM_025103.4(IFT74):c.157T>C (p.Cys53Arg)
|
rs2489312053
|
|
|
NM_025114.4(CEP290):c.1097T>C (p.Met366Thr)
|
rs756538253
|
|
|
NM_025114.4(CEP290):c.1676T>C (p.Met559Thr)
|
rs367816078
|
|
|
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
|
rs1221399740
|
|
|
NM_025114.4(CEP290):c.3878T>G (p.Leu1293Arg)
|
rs1444244014
|
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
|
NM_025136.4(OPA3):c.235C>A (p.Leu79Met)
|
rs886037828
|
|
|
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
|
rs372161100
|
|
|
NM_025136.4(OPA3):c.410A>T (p.Gln137Leu)
|
rs372161100
|
|
|
NM_025137.4(SPG11):c.1886C>A (p.Thr629Asn)
|
rs2505601166
|
|
|
NM_025137.4(SPG11):c.278G>A (p.Arg93His)
|
rs149254262
|
|
|
NM_025137.4(SPG11):c.4442G>C (p.Ser1481Thr)
|
rs2505362911
|
|
|
NM_025137.4(SPG11):c.4549C>G (p.Leu1517Val)
|
rs942704467
|
|
|
NM_025137.4(SPG11):c.6872G>A (p.Cys2291Tyr)
|
rs2505173637
|
|
|
NM_025137.4(SPG11):c.6923G>C (p.Gly2308Ala)
|
rs149226233
|
|
|
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
|
rs371727967
|
|
|
NM_025150.5(TARS2):c.774+5G>T
|
rs2526278171
|
|
|
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)
|
rs2502533301
|
|
|
NM_025152.3(NUBPL):c.514-19835C>A
|
rs1012043214
|
|
|
NM_025193.4(HSD3B7):c.143C>G (p.Pro48Arg)
|
rs2056463300
|
|
|
NM_025216.3(WNT10A):c.980C>A (p.Pro327Gln)
|
rs2106018525
|
|
|
NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys)
|
rs761471108
|
|
|
NM_025219.3(DNAJC5):c.493+1dup
|
rs2516802032
|
|
|
NM_025237.3(SOST):c.578G>C (p.Arg193Pro)
|
rs1433615680
|
|
|
NM_025243.4(SLC19A3):c.175T>C (p.Trp59Arg)
|
rs1695593561
|
|
|
NM_025265.4(TSEN2):c.1016T>G (p.Phe339Cys)
|
rs2471780550
|
|
|
NM_025265.4(TSEN2):c.703CAT[1] (p.His236del)
|
rs770578452
|
|
|
NM_030632.3(ASXL3):c.1003C>T (p.Arg335Trp)
|
rs765803411
|
|
|
NM_030632.3(ASXL3):c.1059C>A (p.Phe353Leu)
|
rs2510910522
|
|
|
NM_030632.3(ASXL3):c.1245G>C (p.Glu415Asp)
|
rs369775948
|
|
|
NM_030632.3(ASXL3):c.2591_2597delinsT (p.Lys864_His866delinsIle)
|
rs2510920111
|
|
|
NM_030632.3(ASXL3):c.272A>G (p.Asp91Gly)
|
rs1313848346
|
|
|
NM_030632.3(ASXL3):c.3193C>T (p.Arg1065Trp)
|
rs2510924448
|
|
|
NM_030632.3(ASXL3):c.394C>A (p.Arg132=)
|
rs747032112
|
|
|
NM_030632.3(ASXL3):c.4011G>T (p.Gln1337His)
|
rs201161279
|
|
|
NM_030632.3(ASXL3):c.464A>G (p.Lys155Arg)
|
rs2510921336
|
|
|
NM_030632.3(ASXL3):c.4904A>G (p.Glu1635Gly)
|
rs2067741588
|
|
|
NM_030632.3(ASXL3):c.4944C>G (p.Asn1648Lys)
|
rs1260228468
|
|
|
NM_030632.3(ASXL3):c.5076TCC[1] (p.Pro1694del)
|
rs2510930522
|
|
|
NM_030632.3(ASXL3):c.5468G>T (p.Arg1823Leu)
|
rs201071954
|
|
|
NM_030632.3(ASXL3):c.5854T>C (p.Ser1952Pro)
|
rs749486476
|
|
|
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del)
|
rs1235588816
|
|
|
NM_030632.3(ASXL3):c.6251T>C (p.Leu2084Pro)
|
rs1372165886
|
|
|
NM_030632.3(ASXL3):c.6366C>A (p.Phe2122Leu)
|
rs779258887
|
|
|
NM_030650.3(LNPK):c.317-1_317delinsTT
|
rs2468630815
|
|
|
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
|
rs2032164548
|
|
|
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
|
rs2508567953
|
|
|
NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)
|
rs1243143088
|
|
|
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
|
rs778987232
|
|
|
NM_030667.3(PTPRO):c.2920T>C (p.Tyr974His)
|
rs2540125349
|
|
|
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp)
|
rs781676521
|
|
|
NM_030787.4(CFHR5):c.1686_1707del (p.Lys562fs)
|
rs2526988706
|
|
|
NM_030787.4(CFHR5):c.1A>G (p.Met1Val)
|
rs1653430949
|
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030799.9(YIPF5):c.524T>A (p.Val175Asp)
|
rs2479701260
|
|
|
NM_030805.4(LMAN2L):c.22dup (p.Leu8fs)
|
rs767860747
|
|
|
NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)
|
rs2508196348
|
|
|
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)
|
rs1428691401
|
|
|
NM_030948.6(PHACTR1):c.1000G>C (p.Val334Leu)
|
rs1770051610
|
|
|
NM_030948.6(PHACTR1):c.1043G>A (p.Gly348Asp)
|
rs1267979162
|
|
|
NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile)
|
rs2548200517
|
|
|
NM_030948.6(PHACTR1):c.206C>A (p.Thr69Lys)
|
rs1305654074
|
|
|
NM_030948.6(PHACTR1):c.917_918delinsTT (p.His306Leu)
|
rs2548114138
|
|
|
NM_030954.4(RNF170):c.29G>A (p.Ser10Asn)
|
rs2487499529
|
|
|
NM_030957.4(ADAMTS10):c.133A>G (p.Thr45Ala)
|
rs1168401368
|
|
|
NM_030973.4(MED25):c.1702C>G (p.Leu568Val)
|
rs766289585
|
|
|
NM_031157.4(HNRNPA1):c.127dup (p.Cys43fs)
|
rs2540580950
|
|
|
NM_031157.4(HNRNPA1):c.648C>G (p.Phe216Leu)
|
rs777176018
|
|
|
NM_031157.4(HNRNPA1):c.696TGG[3] (p.Gly236del)
|
rs954853403
|
|
|
NM_031157.4(HNRNPA1):c.809G>T (p.Gly270Val)
|
rs749816501
|
|
|
NM_031157.4(HNRNPA1):c.874_877dup (p.Gly293fs)
|
rs2540584156
|
|
|
NM_031157.4(HNRNPA1):c.959A>T (p.Asn320Ile)
|
rs778425038
|
|
|
NM_031206.7(LAS1L):c.1301-10T>C
|
rs2522566388
|
|
|
NM_031206.7(LAS1L):c.1570C>A (p.Pro524Thr)
|
rs2068725707
|
|
|
NM_031206.7(LAS1L):c.311G>T (p.Gly104Val)
|
rs2522706390
|
|
|
NM_031263.4(HNRNPK):c.455A>T (p.His152Leu)
|
rs2491985456
|
|
|
NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala)
|
rs2111067573
|
|
|
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)
|
rs1085307129
|
|
|
NM_031372.4(HNRNPDL):c.101C>G (p.Pro34Arg)
|
rs988355917
|
|
|
NM_031372.4(HNRNPDL):c.101_109del (p.Pro34_Arg36del)
|
rs759911561
|
|
|
NM_031372.4(HNRNPDL):c.110_113delinsCGCC (p.Gln37_Leu38delinsProPro)
|
rs2530025725
|
|
|
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)
|
rs587777669
|
|
|
NM_031372.4(HNRNPDL):c.128C>T (p.Pro43Leu)
|
rs748553069
|
|
|
NM_031372.4(HNRNPDL):c.169G>A (p.Ala57Thr)
|
rs775253636
|
|
|
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)
|
rs200595389
|
|
|
NM_031372.4(HNRNPDL):c.248C>A (p.Pro83Gln)
|
rs201774571
|
|
|
NM_031372.4(HNRNPDL):c.266_300del (p.His89fs)
|
rs2530023682
|
|
|
NM_031372.4(HNRNPDL):c.294CGC[4] (p.Ala104dup)
|
rs776181176
|
|
|
NM_031372.4(HNRNPDL):c.316C>G (p.Arg106Gly)
|
rs140163739
|
|
|
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del)
|
rs760683509
|
|
|
NM_031372.4(HNRNPDL):c.42G>C (p.Leu14Phe)
|
rs753174711
|
|
|
NM_031372.4(HNRNPDL):c.814_815delinsAT (p.Glu272Ile)
|
rs2110028841
|
|
|
NM_031372.4(HNRNPDL):c.88T>G (p.Trp30Gly)
|
rs1721622870
|
|
|
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3])
|
rs1447722708
|
|
|
NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met)
|
rs2061621222
|
|
|
NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys)
|
rs1556923379
|
|
|
NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp)
|
rs2522874462
|
|
|
NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly)
|
rs782423036
|
|
|
NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe)
|
rs2526917629
|
|
|
NM_031407.7(HUWE1):c.353A>G (p.His118Arg)
|
rs2528791650
|
|
|
NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu)
|
rs2149250400
|
|
|
NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln)
|
rs2525563424
|
|
|
NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly)
|
rs1556970060
|
|
|
NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile)
|
rs1556957192
|
|
|
NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys)
|
rs2063038676
|
|
|
NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu)
|
rs2524488884
|
|
|
NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His)
|
rs1159443354
|
|
|
NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg)
|
rs2523812705
|
|
|
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
|
rs2523554153
|
|
|
NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala)
|
rs2523538695
|
|
|
NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu)
|
rs2061821773
|
|
|
NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr)
|
rs2523426961
|
|
|
NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro)
|
rs2523425174
|
|
|
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu)
|
rs2147326587
|
|
|
NM_031418.4(ANO3):c.2858T>C (p.Val953Ala)
|
rs2539036809
|
|
|
NM_031418.4(ANO3):c.827C>G (p.Ser276Ter)
|
rs2494995355
|
|
|
NM_031418.4(ANO3):c.972del (p.Val325fs)
|
rs1849455340
|
|
|
NM_031448.6(C19orf12):c.149G>A (p.Gly50Glu)
|
rs2513299649
|
|
|
NM_031475.3(ESPN):c.200C>T (p.Ala67Val)
|
rs1379384002
|
|
|
NM_031475.3(ESPN):c.2377C>G (p.Leu793Val)
|
rs748247165
|
|
|
NM_031475.3(ESPN):c.770G>A (p.Ser257Asn)
|
rs774291154
|
|
|
NM_031483.7(ITCH):c.2357T>G (p.Leu786Arg)
|
rs2515940192
|
|
|
NM_031483.7(ITCH):c.957A>G (p.Leu319=)
|
rs2515681435
|
|
|
NM_031844.3(HNRNPU):c.1193A>C (p.Glu398Ala)
|
rs1680748200
|
|
|
NM_031844.3(HNRNPU):c.429_446del (p.Asp143_Glu148del)
|
rs2527895010
|
|
|
NM_031844.3(HNRNPU):c.560G>C (p.Ser187Thr)
|
rs2527894465
|
|
|
NM_031921.6(ATAD3B):c.1090-3C>T
|
rs2523963325
|
|
|
NM_032040.5(CCDC8):c.917_924delinsTCCTATG (p.Glu306fs)
|
rs2513601440
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
|
NM_032108.4(SEMA6B):c.1271+4G>T
|
rs777422044
|
|
|
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)
|
rs2145342438
|
|
|
NM_032119.4(ADGRV1):c.17792C>A (p.Ala5931Asp)
|
rs1767832965
|
|
|
NM_032119.4(ADGRV1):c.18768G>C (p.Gln6256His)
|
rs2533413925
|
|
|
NM_032119.4(ADGRV1):c.5110+3A>G
|
rs2530722151
|
|
|
NM_032119.4(ADGRV1):c.5485G>T (p.Gly1829Trp)
|
rs2530778497
|
|
|
NM_032121.5(MAGT1):c.52C>T (p.Pro18Ser)
|
rs2077096455
|
|
|
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys)
|
rs749473518
|
|
|
NM_032217.5(ANKRD17):c.1861G>A (p.Ala621Thr)
|
rs745621090
|
|
|
NM_032217.5(ANKRD17):c.6160G>A (p.Gly2054Arg)
|
rs1722791436
|
|
|
NM_032228.6(FAR1):c.231G>T (p.Glu77Asp)
|
rs2500114098
|
|
|
NM_032237.5(POMK):c.582C>G (p.His194Gln)
|
rs773261949
|
|
|
NM_032237.5(POMK):c.599G>A (p.Arg200Gln)
|
rs146214675
|
|
|
NM_032237.5(POMK):c.667A>G (p.Ile223Val)
|
rs2486780669
|
|
|
NM_032242.4(PLXNA1):c.5182A>G (p.Lys1728Glu)
|
rs1400150612
|
|
|
NM_032271.3(TRAF7):c.1919T>C (p.Leu640Pro)
|
rs2141299157
|
|
|
NM_032279.4(ATP13A4):c.490C>T (p.Gln164Ter)
|
rs149579644
|
|
|
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
|
rs186659271
|
|
|
NM_032387.5(WNK4):c.3242G>A (p.Gly1081Glu)
|
rs774875362
|
|
|
NM_032387.5(WNK4):c.716C>A (p.Ser239Ter)
|
rs199775692
|
|
|
NM_032436.4(CHAMP1):c.1007C>A (p.Pro336Gln)
|
rs2503200177
|
|
|
NM_032436.4(CHAMP1):c.1034C>T (p.Pro345Leu)
|
rs1050189129
|
|
|
NM_032436.4(CHAMP1):c.2085A>G (p.Glu695=)
|
rs2087245734
|
|
|
NM_032436.4(CHAMP1):c.628C>T (p.Pro210Ser)
|
rs376019121
|
|
|
NM_032436.4(CHAMP1):c.998C>A (p.Pro333His)
|
rs2503200145
|
|
|
NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)
|
rs2548221523
|
|
|
NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)
|
rs2040453613
|
|
|
NM_032444.4(SLX4):c.678C>A (p.His226Gln)
|
rs28516461
|
|
|
NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn)
|
rs769323972
|
|
|
NM_032551.5(KISS1R):c.1065C>G (p.Asp355Glu)
|
rs1233812471
|
|
|
NM_032551.5(KISS1R):c.505+4A>G
|
rs2037096595
|
|
|
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)
|
rs193022869
|
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
|
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly)
|
rs141983653
|
|
|
NM_032578.4(MYPN):c.614G>A (p.Arg205Lys)
|
rs2133995521
|
|
|
NM_032578.4(MYPN):c.809G>C (p.Arg270Pro)
|
rs1187626834
|
|
|
NM_032608.7(MYO18B):c.2191A>G (p.Ile731Val)
|
rs2087079664
|
|
|
NM_032608.7(MYO18B):c.2545T>C (p.Phe849Leu)
|
rs2517476770
|
|
|
NM_032608.7(MYO18B):c.5971-1045_5971-1042delinsGCCA
|
rs2518107718
|
|
|
NM_032608.7(MYO18B):c.6182C>T (p.Ala2061Val)
|
rs2518266949
|
|
|
NM_032638.5(GATA2):c.61C>T (p.His21Tyr)
|
rs1416953141
|
|
|
NM_032663.5(USP30):c.963_964del (p.Cys322fs)
|
rs1352438840
|
|
|
NM_032737.4(LMNB2):c.1168G>A (p.Ala390Thr)
|
rs1472391691
|
|
|
NM_032737.4(LMNB2):c.18_39dup (p.Arg14fs)
|
rs2512249786
|
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
|
NM_032782.5(HAVCR2):c.523-1G>A
|
rs1757083456
|
|
|
NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)
|
rs1372064351
|
|
|
NM_032793.5(MFSD2A):c.446T>C (p.Leu149Pro)
|
rs2522952776
|
|
|
NM_032801.5(JAM3):c.741G>A (p.Gly247=)
|
rs933683740
|
|
|
NM_032833.5(PPP1R15B):c.1733C>G (p.Ser578Ter)
|
rs1307686249
|
|
|
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
|
rs2505362471
|
|
|
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
|
rs2505370361
|
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3])
|
rs11267906
|
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
|
NM_032888.4(COL27A1):c.3754G>T (p.Gly1252Cys)
|
rs756515580
|
|
|
NM_032951.3(MLXIPL):c.1488dup (p.Ala497fs)
|
rs1563478600
|
|
|
NM_032968.5(PCDH11X):c.3385C>A (p.Gln1129Lys)
|
rs2522428049
|
|
|
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg)
|
rs916343393
|
|
|
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter)
|
rs746530401
|
|
|
NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala)
|
rs767866275
|
|
|
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)
|
rs1369236514
|
|
|
NM_033026.6(PCLO):c.5147G>T (p.Gly1716Val)
|
rs773335012
|
|
|
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
|
rs1477370912
|
|
|
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
|
rs1254813173
|
|
|
NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
|
rs2542973612
|
|
|
NM_033028.5(BBS4):c.76+3del
|
rs2542892339
|
|
|
NM_033064.5(ATCAY):c.-41-1022G>A
|
rs140772342
|
|
|
NM_033109.5(PNPT1):c.1252A>T (p.Ile418Leu)
|
rs747283643
|
|
|
NM_033116.6(NEK9):c.2658_2659inv (p.Pro887Thr)
|
|
|
|
NM_033124.5(DRC2):c.913C>T (p.Arg305Ter)
|
rs759186574
|
|
|
NM_033225.6(CSMD1):c.10040-3C>A
|
rs1802611207
|
|
|
NM_033225.6(CSMD1):c.10231C>G (p.Leu3411Val)
|
rs2486486991
|
|
|
NM_033225.6(CSMD1):c.1615A>C (p.Thr539Pro)
|
rs374140372
|
|
|
NM_033225.6(CSMD1):c.2377G>C (p.Gly793Arg)
|
rs1252901564
|
|
|
NM_033225.6(CSMD1):c.2900-2A>C
|
rs2486749975
|
|
|
NM_033225.6(CSMD1):c.2986G>A (p.Val996Ile)
|
rs376173422
|
|
|
NM_033225.6(CSMD1):c.536G>T (p.Gly179Val)
|
rs1419430946
|
|
|
NM_033225.6(CSMD1):c.6173A>T (p.His2058Leu)
|
rs1177679214
|
|
|
NM_033225.6(CSMD1):c.6523C>T (p.Leu2175Phe)
|
rs1217160986
|
|
|
NM_033225.6(CSMD1):c.8282A>G (p.Asn2761Ser)
|
rs1388019836
|
|
|
NM_033225.6(CSMD1):c.8807T>C (p.Phe2936Ser)
|
rs2486686437
|
|
|
NM_033225.6(CSMD1):c.9562G>C (p.Val3188Leu)
|
rs768950845
|
|
|
NM_033238.3(PML):c.929_941dup (p.Ser314fs)
|
rs2505462437
|
|
|
NM_033310.3(KCNK4):c.366_369delinsCTGCCGG (p.Tyr123delinsCysArg)
|
rs2495688025
|
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
|
NM_033310.3(KCNK4):c.964C>T (p.Pro322Ser)
|
rs576679008
|
|
|
NM_033337.3(CAV3):c.152C>T (p.Thr51Ile)
|
rs1708129603
|
|
|
NM_033337.3(CAV3):c.194T>C (p.Phe65Ser)
|
rs1708132892
|
|
|
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)
|
rs28936686
|
|
|
NM_033337.3(CAV3):c.380C>T (p.Thr127Ile)
|
rs878854385
|
|
|
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)
|
rs2528267177
|
|
|
NM_033380.3(COL4A5):c.2767+3_2767+14del
|
rs2524404206
|
|
|
NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)
|
rs2524423534
|
|
|
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
|
rs2524652108
|
|
|
NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)
|
rs2524654354
|
|
|
NM_033409.4(SLC52A3):c.339C>A (p.Phe113Leu)
|
rs151229044
|
|
|
NM_033427.3(CTTNBP2):c.3844C>A (p.Gln1282Lys)
|
rs2485444049
|
|
|
NM_033629.6(TREX1):c.354C>T (p.Pro118=)
|
rs750361996
|
|
|
NM_033629.6(TREX1):c.446G>T (p.Gly149Val)
|
rs1019800321
|
|
|
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
|
rs1356874913
|
|
|
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile)
|
rs2040376821
|
|
|
NM_033629.6(TREX1):c.898_899dup (p.Val301fs)
|
rs2530047810
|
|
|
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)
|
rs988697230
|
|
|
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)
|
rs2523075441
|
|
|
NM_033656.4(BRWD1):c.480del (p.Cys161fs)
|
rs2517229025
|
|
|
NM_052844.4(DYNC2I2):c.805G>C (p.Val269Leu)
|
rs368559454
|
|
|
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
|
rs28941784
|
|
|
NM_052854.4(CREB3L1):c.627del (p.Ser210fs)
|
rs776390325
|
|
|
NM_052865.4(MGME1):c.203C>G (p.Thr68Ser)
|
rs2515221287
|
|
|
NM_052867.4(NALCN):c.2089A>G (p.Ile697Val)
|
rs2037173952
|
|
|
NM_052867.4(NALCN):c.2195C>T (p.Ala732Val)
|
rs2502216542
|
|
|
NM_052867.4(NALCN):c.2762C>G (p.Ala921Gly)
|
rs2502153382
|
|
|
NM_052867.4(NALCN):c.2914A>T (p.Met972Leu)
|
rs2139609113
|
|
|
NM_052867.4(NALCN):c.3521G>T (p.Arg1174Ile)
|
rs2501997628
|
|
|
NM_052867.4(NALCN):c.4894A>C (p.Met1632Leu)
|
rs753725804
|
|
|
NM_052872.4(IL17F):c.298G>T (p.Ala100Ser)
|
rs1325665616
|
|
|
NM_052874.5(STX1B):c.30+3G>C
|
rs2543975466
|
|
|
NM_052874.5(STX1B):c.632T>C (p.Leu211Pro)
|
rs2543954851
|
|
|
NM_052876.4(NACC1):c.1010G>A (p.Arg337Gln)
|
rs2019706242
|
|
|
NM_052876.4(NACC1):c.1414C>T (p.Arg472Cys)
|
rs2513139551
|
|
|
NM_052876.4(NACC1):c.673G>C (p.Ala225Pro)
|
rs576631867
|
|
|
NM_052903.6(TUBGCP5):c.1298C>T (p.Ala433Val)
|
rs746142240
|
|
|
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
|
rs2531287581
|
|
|
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
|
rs745762753
|
|
|
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr)
|
rs374894375
|
|
|
NM_053025.4(MYLK):c.2881G>A (p.Gly961Arg)
|
rs752253614
|
|
|
NM_053025.4(MYLK):c.3128C>G (p.Pro1043Arg)
|
rs2474171984
|
|
|
NM_057175.5(NAA15):c.1486A>G (p.Lys496Glu)
|
rs2530418932
|
|
|
NM_057175.5(NAA15):c.2218C>T (p.Arg740Cys)
|
rs1178625499
|
|
|
NM_057175.5(NAA15):c.706C>A (p.Gln236Lys)
|
rs1464795856
|
|
|
NM_057175.5(NAA15):c.743G>A (p.Arg248Lys)
|
rs1579113779
|
|
|
NM_058004.4(PI4KA):c.674G>A (p.Gly225Asp)
|
rs1012018579
|
|
|
NM_058246.4(DNAJB6):c.114del (p.Asn38fs)
|
rs1799690248
|
|
|
NM_058246.4(DNAJB6):c.122A>C (p.Glu41Ala)
|
rs201730743
|
|
|
NM_058246.4(DNAJB6):c.172G>C (p.Asp58His)
|
rs1799693872
|
|
|
NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val)
|
rs372973038
|
|
|
NM_058246.4(DNAJB6):c.236-1G>C
|
rs2536009336
|
|
|
NM_058246.4(DNAJB6):c.236-3C>G
|
rs762487513
|
|
|
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)
|
rs387907150
|
|
|
NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro)
|
rs2536009772
|
|
|
NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe)
|
rs2536084821
|
|
|
NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu)
|
rs2536098212
|
|
|
NM_058246.4(DNAJB6):c.512G>T (p.Gly171Val)
|
rs1584927273
|
|
|
NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu)
|
rs779218392
|
|
|
NM_058246.4(DNAJB6):c.731G>A (p.Arg244Gln)
|
rs1353253340
|
|
|
NM_058246.4(DNAJB6):c.761C>G (p.Pro254Arg)
|
rs1180097071
|
|
|
NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys)
|
rs2536206387
|
|
|
NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys)
|
rs911721201
|
|
|
NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg)
|
rs932668103
|
|
|
NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg)
|
rs886044456
|
|
|
NM_058246.4(DNAJB6):c.868G>C (p.Gly290Arg)
|
rs886044456
|
|
|
NM_058246.4(DNAJB6):c.869G>A (p.Gly290Glu)
|
rs765439077
|
|
|
NM_058246.4(DNAJB6):c.947C>G (p.Ser316Trp)
|
rs371304535
|
|
|
NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu)
|
rs371304535
|
|
|
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
|
rs2538853332
|
|
|
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
|
rs1816412380
|
|
|
NM_078480.3(PUF60):c.1381-3_1381-2del
|
rs769410664
|
|
|
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
|
rs2538843992
|
|
|
NM_078629.4(MSL3):c.1319C>A (p.Pro440Gln)
|
rs369777019
|
|
|
NM_078629.4(MSL3):c.367G>C (p.Glu123Gln)
|
rs1455131872
|
|
|
NM_080425.4(GNAS):c.416T>C (p.Met139Thr)
|
rs2516366234
|
|
|
NM_080473.5(GATA5):c.226G>T (p.Gly76Cys)
|
rs868924022
|
|
|
NM_080473.5(GATA5):c.405G>T (p.Gly135=)
|
rs1989821138
|
|
|
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
|
rs776651800
|
|
|
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
|
rs1555589104
|
|
|
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)
|
rs372806452
|
|
|
NM_080680.3(COL11A2):c.3485G>A (p.Gly1162Asp)
|
rs1455275715
|
|
|
NM_080680.3(COL11A2):c.4816A>G (p.Thr1606Ala)
|
rs2534412723
|
|
|
NM_080866.3(SLC22A9):c.402+1G>A
|
rs1434688636
|
|
|
NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)
|
rs144907403
|
|
|
NM_080916.3(DGUOK):c.545G>C (p.Ser182Thr)
|
rs2467049725
|
|
|
NM_080916.3(DGUOK):c.7G>C (p.Ala3Pro)
|
rs1309022733
|
|
|
NM_130797.4(DPP6):c.668A>G (p.Lys223Arg)
|
rs1303021837
|
|
|
NM_130810.4(DNAAF4):c.59C>G (p.Ser20Cys)
|
rs552975153
|
|
|
NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp)
|
rs144567527
|
|
|
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)
|
rs374519603
|
|
|
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)
|
rs1218040975
|
|
|
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser)
|
rs772952625
|
|
|
NM_130839.5(UBE3A):c.443G>A (p.Arg148His)
|
rs2080315079
|
|
|
NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser)
|
rs748608117
|
|
|
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)
|
rs374749283
|
|
|
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)
|
rs781402282
|
|
|
NM_133259.4(LRPPRC):c.1649+3A>G
|
rs1159690775
|
|
|
NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)
|
rs761057779
|
|
|
NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)
|
rs2512421668
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
|
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu)
|
rs1554015229
|
|
|
NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn)
|
rs761864879
|
|
|
NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)
|
rs2478987276
|
|
|
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)
|
rs1466832100
|
|
|
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
|
rs2477937562
|
|
|
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
|
rs2477938891
|
|
|
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del)
|
rs797045778
|
|
|
NM_133445.3(GRIN3A):c.1744G>T (p.Asp582Tyr)
|
rs2490419247
|
|
|
NM_133497.4(KCNV2):c.1411A>T (p.Arg471Trp)
|
rs1820027191
|
|
|
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu)
|
rs188675457
|
|
|
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu)
|
rs188675457
|
|
|
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val)
|
rs775051738
|
|
|
NM_133642.5(LARGE1):c.1453C>A (p.Leu485Ile)
|
rs751271038
|
|
|
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
|
rs766363552
|
|
|
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)
|
rs138573955
|
|
|
NM_133642.5(LARGE1):c.1711G>A (p.Gly571Arg)
|
rs1239704038
|
|
|
NM_133642.5(LARGE1):c.1733A>T (p.Lys578Met)
|
rs1355003433
|
|
|
NM_133642.5(LARGE1):c.1980TGT[2] (p.Val663del)
|
rs1239987250
|
|
|
NM_133642.5(LARGE1):c.2019G>T (p.Arg673Ser)
|
rs1569004270
|
|
|
NM_133642.5(LARGE1):c.2105A>T (p.Tyr702Phe)
|
rs778076605
|
|
|
NM_133642.5(LARGE1):c.2116A>G (p.Met706Val)
|
rs748665662
|
|
|
NM_133642.5(LARGE1):c.2120C>T (p.Pro707Leu)
|
rs779333513
|
|
|
NM_133642.5(LARGE1):c.2162A>G (p.Lys721Arg)
|
rs2546544260
|
|
|
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys)
|
rs757062605
|
|
|
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)
|
rs746916767
|
|
|
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
|
rs760072762
|
|
|
NM_133642.5(LARGE1):c.665T>C (p.Leu222Pro)
|
rs2518344735
|
|
|
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn)
|
rs1256101536
|
|
|
NM_134261.3(RORA):c.1560A>C (p.Gln520His)
|
rs2541948698
|
|
|
NM_134261.3(RORA):c.19G>T (p.Ala7Ser)
|
rs769104777
|
|
|
NM_134261.3(RORA):c.56G>C (p.Gly19Ala)
|
rs2505120819
|
|
|
NM_134261.3(RORA):c.613G>A (p.Asp205Asn)
|
rs2542050206
|
|
|
NM_138295.5(PKD1L1):c.2325_2326delinsAG (p.Arg776Gly)
|
rs2484106505
|
|
|
NM_138295.5(PKD1L1):c.6848C>T (p.Ala2283Val)
|
rs1293620191
|
|
|
NM_138364.4(PRMT9):c.576-1G>A
|
rs2530677868
|
|
|
NM_138413.4(HOGA1):c.211+4A>G
|
rs2540060712
|
|
|
NM_138413.4(HOGA1):c.305A>T (p.Lys102Met)
|
rs2540074186
|
|
|
NM_138422.4(ADAT3):c.947A>C (p.His316Pro)
|
rs754285783
|
|
|
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
|
rs1396393146
|
|
|
NM_138459.5(NUS1):c.220G>A (p.Gly74Arg)
|
rs1041259462
|
|
|
NM_138459.5(NUS1):c.470A>T (p.Gln157Leu)
|
rs1773264449
|
|
|
NM_138459.5(NUS1):c.666T>G (p.Asp222Glu)
|
rs1773282991
|
|
|
NM_138461.4(TM4SF19):c.41dup (p.Cys14fs)
|
rs1727347436
|
|
|
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
|
rs2506124471
|
|
|
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
|
rs140424619
|
|
|
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
|
rs763618196
|
|
|
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
|
rs751652343
|
|
|
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
|
rs751054309
|
|
|
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
|
rs2506101472
|
|
|
NM_138477.4(CDAN1):c.2542-3C>G
|
rs201401533
|
|
|
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
|
rs201131708
|
|
|
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
|
rs111609226
|
|
|
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
|
rs2506080276
|
|
|
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
|
rs2506079936
|
|
|
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
|
rs369919247
|
|
|
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
|
rs754935942
|
|
|
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
|
rs375514582
|
|
|
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
|
rs1283359661
|
|
|
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)
|
rs146289653
|
|
|
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
|
rs772114869
|
|
|
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
|
rs1595848290
|
|
|
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
|
rs767658050
|
|
|
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
|
rs752641116
|
|
|
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)
|
rs1453541127
|
|
|
NM_138576.4(BCL11B):c.93AGA[1] (p.Glu32del)
|
rs2503928272
|
|
|
NM_138615.3(DHX30):c.1624C>T (p.Arg542Cys)
|
rs2549293367
|
|
|
NM_138615.3(DHX30):c.1948C>T (p.Leu650Phe)
|
rs144500734
|
|
|
NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly)
|
rs2549296425
|
|
|
NM_138615.3(DHX30):c.270C>A (p.His90Gln)
|
rs2549264827
|
|
|
NM_138638.5(CFL2):c.230T>G (p.Leu77Arg)
|
rs1885381635
|
|
|
NM_138638.5(CFL2):c.327A>G (p.Ala109=)
|
rs2502578037
|
|
|
NM_138638.5(CFL2):c.500A>G (p.Ter167=)
|
rs2502576860
|
|
|
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
|
rs1277940201
|
|
|
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
|
rs748172183
|
|
|
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
|
rs1431746876
|
|
|
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
|
rs948454151
|
|
|
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
|
rs2533316845
|
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
|
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val)
|
rs140815495
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
|
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
|
rs1422700433
|
|
|
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
|
rs2536679209
|
|
|
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
|
rs751922159
|
|
|
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
|
rs1251602036
|
|
|
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
|
rs748925411
|
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
|
NM_138773.4(SLC25A46):c.199C>T (p.Pro67Ser)
|
rs868222085
|
|
|
NM_138927.4(SON):c.1653G>T (p.Gln551His)
|
rs2517356319
|
|
|
NM_138927.4(SON):c.1736_1738del (p.Thr579del)
|
rs2517357202
|
|
|
NM_138927.4(SON):c.1798C>T (p.Leu600Phe)
|
rs1011359897
|
|
|
NM_138927.4(SON):c.1898C>T (p.Pro633Leu)
|
rs2517358398
|
|
|
NM_138927.4(SON):c.196G>A (p.Glu66Lys)
|
rs2517326891
|
|
|
NM_138927.4(SON):c.3255_3281del (p.Met1086_Ser1094del)
|
rs773188939
|
|
|
NM_138927.4(SON):c.3469A>G (p.Met1157Val)
|
rs1157920241
|
|
|
NM_138927.4(SON):c.3899C>T (p.Ser1300Leu)
|
rs1350813515
|
|
|
NM_138927.4(SON):c.3958C>A (p.His1320Asn)
|
rs768215782
|
|
|
NM_138927.4(SON):c.3980C>T (p.Thr1327Ile)
|
rs1238110214
|
|
|
NM_138927.4(SON):c.4207G>A (p.Val1403Ile)
|
rs2517379294
|
|
|
NM_138927.4(SON):c.4593T>A (p.Asn1531Lys)
|
rs73900350
|
|
|
NM_138927.4(SON):c.4972C>T (p.Pro1658Ser)
|
rs2085897193
|
|
|
NM_138927.4(SON):c.5301_5316delinsC (p.Ala1768_Val1772del)
|
rs2517389708
|
|
|
NM_138927.4(SON):c.5840G>A (p.Arg1947Lys)
|
rs2085932078
|
|
|
NM_138927.4(SON):c.6644A>C (p.Asn2215Thr)
|
rs764493458
|
|
|
NM_138927.4(SON):c.746C>G (p.Pro249Arg)
|
rs200599715
|
|
|
NM_138927.4(SON):c.883C>G (p.Pro295Ala)
|
rs2517348666
|
|
|
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
|
rs140628579
|
|
|
NM_139027.6(ADAMTS13):c.794G>C (p.Cys265Ser)
|
rs2491103224
|
|
|
NM_139058.3(ARX):c.1161G>C (p.Glu387Asp)
|
rs1308446794
|
|
|
NM_139058.3(ARX):c.291T>C (p.Leu97=)
|
rs2147324418
|
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.34G>A (p.Glu12Lys)
|
rs587783200
|
|
|
NM_139058.3(ARX):c.373G>A (p.Ala125Thr)
|
rs1349449662
|
|
|
NM_139058.3(ARX):c.376C>A (p.Pro126Thr)
|
rs1281671382
|
|
|
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)
|
rs1268774120
|
|
|
NM_139058.3(ARX):c.668C>A (p.Thr223Asn)
|
rs2519106833
|
|
|
NM_139058.3(ARX):c.803T>G (p.Val268Gly)
|
rs398124518
|
|
|
NM_139242.4(MTFMT):c.1073C>G (p.Ser358Cys)
|
rs1054662962
|
|
|
NM_139242.4(MTFMT):c.814-4787C>G
|
rs956796923
|
|
|
NM_139276.3(STAT3):c.711C>A (p.Asp237Glu)
|
rs17882069
|
|
|
NM_139315.3(TAF6):c.1412C>T (p.Ala471Val)
|
rs2546974921
|
|
|
NM_139318.5(KCNH5):c.478C>T (p.Arg160Ter)
|
rs2503052478
|
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
|
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
|
rs2467183615
|
|
|
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
|
rs561244491
|
|
|
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
|
rs2467423343
|
|
|
NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)
|
rs779153781
|
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
|
NM_144599.5(NIPA1):c.21_38del (p.Ala11_Ala16del)
|
rs1314889289
|
|
|
NM_144599.5(NIPA1):c.70A>G (p.Ser24Gly)
|
rs1478186050
|
|
|
NM_144670.6(A2ML1):c.1481T>C (p.Ile494Thr)
|
rs1371663652
|
|
|
NM_144670.6(A2ML1):c.1949C>G (p.Pro650Arg)
|
rs2539246539
|
|
|
NM_144670.6(A2ML1):c.2630_2633del (p.Ser877fs)
|
rs2539263881
|
|
|
NM_144670.6(A2ML1):c.3074C>T (p.Ala1025Val)
|
rs2539277171
|
|
|
NM_144670.6(A2ML1):c.313A>G (p.Ile105Val)
|
rs2539174204
|
|
|
NM_144670.6(A2ML1):c.792_793del (p.Tyr265fs)
|
rs745514929
|
|
|
NM_144687.4(NLRP12):c.2028C>A (p.Asp676Glu)
|
rs2514328829
|
|
|
NM_144687.4(NLRP12):c.2520_2522delinsAGT (p.Asp841Val)
|
rs2514276643
|
|
|
NM_144687.4(NLRP12):c.725G>A (p.Gly242Asp)
|
rs2122678718
|
|
|
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter)
|
rs145049569
|
|
|
NM_144773.4(PROKR2):c.937A>G (p.Thr313Ala)
|
rs1381073853
|
|
|
NM_144988.4(ALG14):c.474_476dup (p.Leu159_Gly160insLeu)
|
rs778723319
|
|
|
NM_144991.3(TSPEAR):c.1110C>A (p.His370Gln)
|
rs587746994
|
|
|
NM_144991.3(TSPEAR):c.1150_1156del (p.Ile384fs)
|
rs782334547
|
|
|
NM_144997.7(FLCN):c.170G>A (p.Arg57Gln)
|
rs749770193
|
|
|
NM_145045.5(ODAD3):c.1116+1G>T
|
rs761992279
|
|
|
NM_145045.5(ODAD3):c.556A>G (p.Ser186Gly)
|
rs528337895
|
|
|
NM_145064.3(STAC3):c.772T>C (p.Phe258Leu)
|
rs2548115621
|
|
|
NM_145117.5(NAV2):c.26A>C (p.Lys9Thr)
|
rs1288286466
|
|
|
NM_145201.6(NAPRT):c.1306del (p.Asp436fs)
|
rs2538037967
|
|
|
NM_145207.3(AFG2A):c.1996C>T (p.Leu666Phe)
|
rs2478023046
|
|
|
NM_145207.3(AFG2A):c.97C>T (p.Pro33Ser)
|
rs376956304
|
|
|
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr)
|
rs201409113
|
|
|
NM_145239.3(PRRT2):c.649C>A (p.Arg217=)
|
rs77838305
|
|
|
NM_145239.3(PRRT2):c.919C>A (p.Gln307Lys)
|
rs2543339020
|
|
|
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)
|
rs2473927655
|
|
|
NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr)
|
rs1186216170
|
|
|
NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)
|
rs753867724
|
|
|
NM_145331.3(MAP3K7):c.1163T>C (p.Met388Thr)
|
rs2481799815
|
|
|
NM_145647.4(TBC1D31):c.1951G>T (p.Glu651Ter)
|
rs2489740258
|
|
|
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
|
rs62073570
|
|
|
NM_145698.5(ACBD5):c.1565+2T>A
|
rs2540389570
|
|
|
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg)
|
rs1202502842
|
|
|
NM_152263.4(TPM3):c.297G>C (p.Glu99Asp)
|
rs2526081950
|
|
|
NM_152263.4(TPM3):c.412G>C (p.Asp138His)
|
rs2148242185
|
|
|
NM_152263.4(TPM3):c.544G>A (p.Glu182Lys)
|
rs2526035462
|
|
|
NM_152263.4(TPM3):c.560C>G (p.Ala187Gly)
|
rs752733942
|
|
|
NM_152263.4(TPM3):c.661A>C (p.Lys221Gln)
|
rs2526001520
|
|
|
NM_152263.4(TPM3):c.715C>G (p.Arg239Gly)
|
rs762014803
|
|
|
NM_152263.4(TPM3):c.795A>T (p.Lys265Asn)
|
rs2525983154
|
|
|
NM_152281.3(GORAB):c.-24T>C
|
rs1557999471
|
|
|
NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)
|
rs1358853600
|
|
|
NM_152296.5(ATP1A3):c.2049A>T (p.Thr683=)
|
rs781828729
|
|
|
NM_152296.5(ATP1A3):c.2395T>C (p.Cys799Arg)
|
rs2514032971
|
|
|
NM_152296.5(ATP1A3):c.38A>C (p.Lys13Thr)
|
rs782280535
|
|
|
NM_152296.5(ATP1A3):c.907C>A (p.Leu303Ile)
|
rs2514075382
|
|
|
NM_152305.3(POGLUT1):c.167G>A (p.Cys56Tyr)
|
rs1185123117
|
|
|
NM_152305.3(POGLUT1):c.257G>A (p.Gly86Glu)
|
rs775877723
|
|
|
NM_152328.5(ADSS1):c.1223G>A (p.Gly408Glu)
|
rs2542049476
|
|
|
NM_152328.5(ADSS1):c.1364A>T (p.Gln455Leu)
|
rs957469815
|
|
|
NM_152328.5(ADSS1):c.193-4994A>C
|
rs2541996101
|
|
|
NM_152328.5(ADSS1):c.201C>G (p.Asn67Lys)
|
rs1385774647
|
|
|
NM_152328.5(ADSS1):c.750C>G (p.Ile250Met)
|
rs1891336595
|
|
|
NM_152383.5(DIS3L2):c.485C>G (p.Pro162Arg)
|
rs773744387
|
|
|
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=)
|
rs2106355380
|
|
|
NM_152393.4(KLHL40):c.460G>A (p.Asp154Asn)
|
rs2471307683
|
|
|
NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)
|
rs2471307895
|
|
|
NM_152424.4(AMER1):c.1460T>A (p.Leu487Gln)
|
rs2521218247
|
|
|
NM_152424.4(AMER1):c.3010T>C (p.Ser1004Pro)
|
rs778870447
|
|
|
NM_152424.4(AMER1):c.3266G>C (p.Arg1089Thr)
|
rs2147084131
|
|
|
NM_152424.4(AMER1):c.3286C>T (p.Gln1096Ter)
|
rs2147084086
|
|
|
NM_152424.4(AMER1):c.50C>G (p.Ser17Cys)
|
rs528118163
|
|
|
NM_152467.5(KLHL10):c.1014A>C (p.Lys338Asn)
|
rs2544489279
|
|
|
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser)
|
rs1553343724
|
|
|
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
|
rs775311855
|
|
|
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
|
rs2527372634
|
|
|
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg)
|
rs1437958242
|
|
|
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
|
rs997425220
|
|
|
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
|
rs895894076
|
|
|
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)
|
rs2527167520
|
|
|
NM_152515.5(CKAP2L):c.1024G>A (p.Gly342Ser)
|
rs764989782
|
|
|
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys)
|
rs1816116104
|
|
|
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu)
|
rs2488710428
|
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
|
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile)
|
rs1810826717
|
|
|
NM_152564.5(VPS13B):c.2013+3A>G
|
rs1810834447
|
|
|
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile)
|
rs1259248038
|
|
|
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
|
rs1052184770
|
|
|
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn)
|
rs2490448311
|
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
|
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)
|
rs2542742966
|
|
|
NM_152631.3(FAM47B):c.577_612del (p.Glu193_Pro204del)
|
rs1926810807
|
|
|
NM_152641.4(ARID2):c.121G>C (p.Gly41Arg)
|
rs1940948860
|
|
|
NM_152641.4(ARID2):c.3764G>A (p.Gly1255Asp)
|
rs754383773
|
|
|
NM_152641.4(ARID2):c.3845A>G (p.Asp1282Gly)
|
rs778526359
|
|
|
NM_152641.4(ARID2):c.4087G>A (p.Asp1363Asn)
|
rs2138176913
|
|
|
NM_152641.4(ARID2):c.5261G>A (p.Arg1754Gln)
|
rs2136462486
|
|
|
NM_152641.4(ARID2):c.905A>G (p.Asn302Ser)
|
rs773972649
|
|
|
NM_152701.5(ABCA13):c.11768A>C (p.Gln3923Pro)
|
rs917238761
|
|
|
NM_152701.5(ABCA13):c.12906-2A>C
|
rs2538350797
|
|
|
NM_152701.5(ABCA13):c.1430A>C (p.Lys477Thr)
|
rs2536455963
|
|
|
NM_152701.5(ABCA13):c.6101T>C (p.Val2034Ala)
|
rs2535294154
|
|
|
NM_152703.5(SAMD9L):c.1925C>A (p.Ser642Ter)
|
rs199955908
|
|
|
NM_152703.5(SAMD9L):c.2268G>A (p.Trp756Ter)
|
rs755008828
|
|
|
NM_152703.5(SAMD9L):c.3251T>C (p.Ile1084Thr)
|
rs2535413990
|
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
|
NM_152722.5(HEPACAM):c.121C>T (p.Arg41Cys)
|
rs917878985
|
|
|
NM_152722.5(HEPACAM):c.886C>T (p.Leu296Phe)
|
rs2135397500
|
|
|
NM_152732.5(RSPH9):c.825G>C (p.Met275Ile)
|
rs755329599
|
|
|
NM_152743.4(BRAT1):c.1564G>A (p.Glu522Lys)
|
rs145509776
|
|
|
NM_152743.4(BRAT1):c.2416A>G (p.Met806Val)
|
rs748686129
|
|
|
NM_152743.4(BRAT1):c.2455G>A (p.Asp819Asn)
|
rs766501904
|
|
|
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)
|
rs1562582216
|
|
|
NM_152743.4(BRAT1):c.803G>T (p.Arg268Leu)
|
rs1131691679
|
|
|
NM_152773.5(DYNLT2B):c.35G>A (p.Gly12Asp)
|
rs1290680668
|
|
|
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp)
|
rs2518903115
|
|
|
NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr)
|
rs2503484925
|
|
|
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp)
|
rs779314205
|
|
|
NM_153033.5(KCTD7):c.481C>T (p.Pro161Ser)
|
rs2535250108
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
|
NM_153240.5(NPHP3):c.1985+5G>A
|
rs754508002
|
|
|
NM_153240.5(NPHP3):c.3059G>C (p.Gly1020Ala)
|
rs146097715
|
|
|
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del)
|
rs779824626
|
|
|
NM_153252.5(BRWD3):c.250G>C (p.Asp84His)
|
rs1414071519
|
|
|
NM_153252.5(BRWD3):c.4025G>A (p.Gly1342Glu)
|
rs2520219389
|
|
|
NM_153252.5(BRWD3):c.4586G>A (p.Arg1529Gln)
|
rs778419234
|
|
|
NM_153252.5(BRWD3):c.4784C>T (p.Thr1595Ile)
|
rs140333389
|
|
|
NM_153252.5(BRWD3):c.5206A>T (p.Met1736Leu)
|
rs763128944
|
|
|
NM_153252.5(BRWD3):c.869G>A (p.Gly290Glu)
|
rs2520421925
|
|
|
NM_153614.4(DNAJB13):c.664C>T (p.Arg222Cys)
|
rs146910386
|
|
|
NM_153704.6(TMEM67):c.2248T>C (p.Phe750Leu)
|
rs2536923619
|
|
|
NM_153747.2(PIGC):c.223A>G (p.Met75Val)
|
rs2526989672
|
|
|
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser)
|
rs138120505
|
|
|
NM_170606.3(KMT2C):c.10116T>G (p.Asn3372Lys)
|
rs1204205678
|
|
|
NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser)
|
rs1000200932
|
|
|
NM_170606.3(KMT2C):c.10877A>C (p.His3626Pro)
|
rs2487688030
|
|
|
NM_170606.3(KMT2C):c.11125A>G (p.Met3709Val)
|
rs762321855
|
|
|
NM_170606.3(KMT2C):c.11254C>T (p.Pro3752Ser)
|
rs768536096
|
|
|
NM_170606.3(KMT2C):c.11984G>A (p.Arg3995Gln)
|
rs1471172646
|
|
|
NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=)
|
rs147957197
|
|
|
NM_170606.3(KMT2C):c.14343+3G>A
|
rs2090934349
|
|
|
NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr)
|
rs2089918301
|
|
|
NM_170606.3(KMT2C):c.2291C>T (p.Ser764Phe)
|
rs200184971
|
|
|
NM_170606.3(KMT2C):c.278A>T (p.Asp93Val)
|
rs780491145
|
|
|
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly)
|
rs1284707010
|
|
|
NM_170606.3(KMT2C):c.5030A>G (p.Gln1677Arg)
|
rs2487816615
|
|
|
NM_170606.3(KMT2C):c.508AAG[1] (p.Lys171del)
|
rs2486127738
|
|
|
NM_170606.3(KMT2C):c.5171G>A (p.Ser1724Asn)
|
rs138819584
|
|
|
NM_170606.3(KMT2C):c.5189G>T (p.Arg1730Leu)
|
rs779514740
|
|
|
NM_170606.3(KMT2C):c.530G>A (p.Ser177Asn)
|
rs2129202536
|
|
|
NM_170606.3(KMT2C):c.5584A>C (p.Ile1862Leu)
|
rs201072522
|
|
|
NM_170606.3(KMT2C):c.6278C>T (p.Pro2093Leu)
|
rs558139040
|
|
|
NM_170606.3(KMT2C):c.6431C>A (p.Ser2144Tyr)
|
rs2487796720
|
|
|
NM_170606.3(KMT2C):c.6439C>G (p.Gln2147Glu)
|
rs2487796691
|
|
|
NM_170606.3(KMT2C):c.6887G>T (p.Arg2296Leu)
|
rs1265651858
|
|
|
NM_170606.3(KMT2C):c.8591A>T (p.Asp2864Val)
|
rs1175330866
|
|
|
NM_170606.3(KMT2C):c.8963A>T (p.Gln2988Leu)
|
rs376171100
|
|
|
NM_170606.3(KMT2C):c.9259A>G (p.Ile3087Val)
|
rs2129112582
|
|
|
NM_170606.3(KMT2C):c.9848G>C (p.Ser3283Thr)
|
rs2129104701
|
|
|
NM_170675.5(MEIS2):c.610T>G (p.Ser204Ala)
|
rs2505226262
|
|
|
NM_170707.4(LMNA):c.1041G>C (p.Glu347Asp)
|
rs2527991411
|
|
|
NM_170707.4(LMNA):c.107A>C (p.Gln36Pro)
|
rs2527830896
|
|
|
NM_170707.4(LMNA):c.1095C>G (p.Ile365Met)
|
rs2527992497
|
|
|
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)
|
rs1553265733
|
|
|
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)
|
rs1572332164
|
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
|
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly)
|
rs58541611
|
|
|
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)
|
rs267607615
|
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
|
NM_170707.4(LMNA):c.148C>G (p.Arg50Gly)
|
rs59931416
|
|
|
NM_170707.4(LMNA):c.149G>T (p.Arg50Leu)
|
rs60695352
|
|
|
NM_170707.4(LMNA):c.1552A>G (p.Asn518Asp)
|
rs757733890
|
|
|
NM_170707.4(LMNA):c.1559G>C (p.Trp520Ser)
|
rs58362413
|
|
|
NM_170707.4(LMNA):c.1584G>C (p.Thr528=)
|
rs80356812
|
|
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
|
|
NM_170707.4(LMNA):c.1669G>T (p.Asp557Tyr)
|
rs1651789592
|
|
|
NM_170707.4(LMNA):c.1838C>G (p.Ser613Cys)
|
rs2528029387
|
|
|
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
|
rs2527829229
|
|
|
NM_170707.4(LMNA):c.284_286del (p.Val95del)
|
rs2527833901
|
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
|
NM_170707.4(LMNA):c.298G>C (p.Ala100Pro)
|
rs886044468
|
|
|
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)
|
rs1553262007
|
|
|
NM_170707.4(LMNA):c.353C>G (p.Ala118Gly)
|
rs2527835145
|
|
|
NM_170707.4(LMNA):c.389C>A (p.Ala130Asp)
|
rs1650973990
|
|
|
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
|
rs2527968384
|
|
|
NM_170707.4(LMNA):c.652A>C (p.Thr218Pro)
|
rs886042966
|
|
|
NM_170707.4(LMNA):c.66G>T (p.Ser22=)
|
rs886043729
|
|
|
NM_170707.4(LMNA):c.734T>C (p.Leu245Pro)
|
rs2527973813
|
|
|
NM_170707.4(LMNA):c.754C>T (p.His252Tyr)
|
rs2102881566
|
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
|
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala)
|
rs1183004393
|
|
|
NM_170707.4(LMNA):c.800_802dup (p.Tyr267dup)
|
rs2102882045
|
|
|
NM_170707.4(LMNA):c.812T>C (p.Leu271Pro)
|
rs267607641
|
|
|
NM_170707.4(LMNA):c.878A>C (p.Gln293Pro)
|
rs1651454980
|
|
|
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro)
|
rs267607633
|
|
|
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)
|
rs2102886618
|
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
|
NM_170784.3(MKKS):c.1516GAA[3] (p.Glu507_Leu508insGlu)
|
rs2514486708
|
|
|
NM_172070.4(UBR3):c.2743G>C (p.Gly915Arg)
|
rs1288722717
|
|
|
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val)
|
rs1568916986
|
|
|
NM_172107.4(KCNQ2):c.1217+3C>T
|
rs758939696
|
|
|
NM_172107.4(KCNQ2):c.1622G>A (p.Arg541Lys)
|
rs1555853970
|
|
|
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)
|
rs886041860
|
|
|
NM_172107.4(KCNQ2):c.2036A>G (p.His679Arg)
|
rs758838148
|
|
|
NM_172107.4(KCNQ2):c.2323A>G (p.Arg775Gly)
|
rs2516096349
|
|
|
NM_172107.4(KCNQ2):c.629G>T (p.Arg210Leu)
|
rs886041262
|
|
|
NM_172107.4(KCNQ2):c.655A>G (p.Lys219Glu)
|
rs2516502068
|
|
|
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
|
rs748291856
|
|
|
NM_172362.3(KCNH1):c.2800A>G (p.Lys934Glu)
|
rs2546369090
|
|
|
NM_173076.3(ABCA12):c.4436T>C (p.Leu1479Pro)
|
rs2469234071
|
|
|
NM_173076.3(ABCA12):c.7076A>C (p.His2359Pro)
|
rs780445454
|
|
|
NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)
|
rs867103640
|
|
|
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)
|
rs769962713
|
|
|
NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)
|
rs752544370
|
|
|
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
|
rs374537813
|
|
|
NM_173354.5(SIK1):c.580G>A (p.Val194Ile)
|
rs367965361
|
|
|
NM_173495.3(PTCHD1):c.1636C>G (p.Gln546Glu)
|
rs2518767029
|
|
|
NM_173569.4(UBN2):c.3781G>T (p.Val1261Phe)
|
rs371901292
|
|
|
NM_173602.3(DIP2B):c.1027_1029delinsTT (p.Leu343fs)
|
rs2540108717
|
|
|
NM_173602.3(DIP2B):c.1502A>T (p.Asp501Val)
|
rs749838744
|
|
|
NM_173602.3(DIP2B):c.2405C>T (p.Pro802Leu)
|
rs2139565009
|
|
|
NM_173602.3(DIP2B):c.2485G>A (p.Val829Ile)
|
rs2540138552
|
|
|
NM_173630.4(RTTN):c.223C>A (p.Pro75Thr)
|
rs767496468
|
|
|
NM_173630.4(RTTN):c.3321G>C (p.Lys1107Asn)
|
rs147728279
|
|
|
NM_173630.4(RTTN):c.487+2T>G
|
rs2061961914
|
|
|
NM_173653.4(SLC9A9):c.1450T>C (p.Leu484=)
|
rs2473078857
|
|
|
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu)
|
rs368512847
|
|
|
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp)
|
rs766061571
|
|
|
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val)
|
rs766061571
|
|
|
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)
|
rs149525610
|
|
|
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu)
|
rs753513427
|
|
|
NM_173660.5(DOK7):c.1251C>A (p.Asp417Glu)
|
rs2475115143
|
|
|
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg)
|
rs201392182
|
|
|
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met)
|
rs376805794
|
|
|
NM_173660.5(DOK7):c.1322G>A (p.Gly441Glu)
|
rs1257859460
|
|
|
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del)
|
rs779508279
|
|
|
NM_173660.5(DOK7):c.1349G>T (p.Arg450Ile)
|
rs2475116377
|
|
|
NM_173660.5(DOK7):c.139C>A (p.Arg47Ser)
|
rs781665230
|
|
|
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del)
|
rs762148551
|
|
|
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup)
|
rs762148551
|
|
|
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val)
|
rs767980190
|
|
|
NM_173660.5(DOK7):c.1451C>A (p.Pro484Gln)
|
rs1057518522
|
|
|
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp)
|
rs77513082
|
|
|
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala)
|
rs373205256
|
|
|
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val)
|
rs373205256
|
|
|
NM_173660.5(DOK7):c.1499T>G (p.Val500Gly)
|
rs2475118396
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
|
NM_173660.5(DOK7):c.320C>A (p.Ala107Glu)
|
rs375503613
|
|
|
NM_173660.5(DOK7):c.460C>A (p.Leu154Met)
|
rs775014794
|
|
|
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp)
|
rs375631042
|
|
|
NM_173660.5(DOK7):c.584T>A (p.Leu195Gln)
|
rs2475053402
|
|
|
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
|
rs377167511
|
|
|
NM_173660.5(DOK7):c.680T>C (p.Val227Ala)
|
rs2475075721
|
|
|
NM_173660.5(DOK7):c.682_683delinsTT (p.Glu228Leu)
|
rs2475075751
|
|
|
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg)
|
rs200407250
|
|
|
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu)
|
rs200407250
|
|
|
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)
|
rs142821143
|
|
|
NM_173660.5(DOK7):c.794G>A (p.Ser265Asn)
|
rs752449499
|
|
|
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
|
rs768322699
|
|
|
NM_173660.5(DOK7):c.941C>T (p.Ala314Val)
|
rs764498019
|
|
|
NM_173660.5(DOK7):c.948G>C (p.Arg316Ser)
|
rs781669451
|
|
|
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg)
|
rs376334067
|
|
|
NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr)
|
rs746545242
|
|
|
NM_173689.7(CRB2):c.1220T>C (p.Leu407Pro)
|
rs2550684491
|
|
|
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)
|
rs543547663
|
|
|
NM_173689.7(CRB2):c.998G>T (p.Gly333Val)
|
rs2550682877
|
|
|
NM_173728.4(ARHGEF15):c.2294A>C (p.Glu765Ala)
|
rs1161952926
|
|
|
NM_174889.5(NDUFAF2):c.50G>A (p.Arg17Lys)
|
rs141492697
|
|
|
NM_174978.3(C14orf39):c.602A>G (p.Asn201Ser)
|
rs372274788
|
|
|
NM_175748.4(UBR7):c.618del (p.Glu207fs)
|
rs1894637828
|
|
|
NM_175875.5(SIX5):c.1069G>A (p.Gly357Ser)
|
rs2513601241
|
|
|
NM_175875.5(SIX5):c.503G>A (p.Arg168His)
|
rs895982348
|
|
|
NM_175914.5(HNF4A):c.467C>G (p.Ala156Gly)
|
rs371827863
|
|
|
NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)
|
rs766943103
|
|
|
NM_176787.5(PIGN):c.2737C>T (p.Gln913Ter)
|
rs2511677152
|
|
|
NM_176787.5(PIGN):c.532G>A (p.Val178Ile)
|
rs779347285
|
|
|
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)
|
rs1289263312
|
|
|
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)
|
rs2476548070
|
|
|
NM_177400.3(NKX6-2):c.175G>T (p.Gly59Cys)
|
rs563679091
|
|
|
NM_177402.5(SYT2):c.145_147del (p.Glu49del)
|
rs746725648
|
|
|
NM_177402.5(SYT2):c.787G>A (p.Gly263Arg)
|
rs1360174968
|
|
|
NM_177433.3(MAGED2):c.1425C>G (p.Tyr475Ter)
|
rs753752812
|
|
|
NM_177438.3(DICER1):c.173A>G (p.His58Arg)
|
rs1595466613
|
|
|
NM_177438.3(DICER1):c.3377C>G (p.Thr1126Arg)
|
rs1595367457
|
|
|
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
|
rs952592664
|
|
|
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)
|
rs1453393447
|
|
|
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
|
rs575033281
|
|
|
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp)
|
rs142320179
|
|
|
NM_177559.3(CSNK2A1):c.102-3C>T
|
rs2514673015
|
|
|
NM_177559.3(CSNK2A1):c.366+9T>C
|
rs2514660826
|
|
|
NM_177559.3(CSNK2A1):c.385A>G (p.Thr129Ala)
|
rs2018374491
|
|
|
NM_177559.3(CSNK2A1):c.584G>A (p.Arg195Gln)
|
rs2122521678
|
|
|
NM_177924.5(ASAH1):c.194T>G (p.Leu65Trp)
|
rs2537962572
|
|
|
NM_177924.5(ASAH1):c.216+3A>T
|
rs1800162662
|
|
|
NM_177924.5(ASAH1):c.460C>T (p.His154Tyr)
|
rs1022036361
|
|
|
NM_177924.5(ASAH1):c.677G>A (p.Arg226His)
|
rs377749094
|
|
|
NM_177924.5(ASAH1):c.835G>C (p.Ala279Pro)
|
rs2537917317
|
|
|
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.1074-11dup
|
rs760453324
|
|
|
NM_177939.3(P4HTM):c.949del (p.Val317fs)
|
rs1576608329
|
|
|
NM_178012.5(TUBB2B):c.607G>C (p.Asp203His)
|
rs2533617503
|
|
|
NM_178012.5(TUBB2B):c.741C>G (p.Asn247Lys)
|
rs1454173126
|
|
|
NM_178170.3(NEK8):c.881G>A (p.Arg294His)
|
rs762967348
|
|
|
NM_178229.5(IQGAP3):c.2331del (p.Lys778fs)
|
rs2525735341
|
|
|
NM_178229.5(IQGAP3):c.526G>C (p.Ala176Pro)
|
rs1476166580
|
|
|
NM_178452.6(DNAAF1):c.125-5T>C
|
rs2507334768
|
|
|
NM_178537.5(B4GALNT4):c.3031C>T (p.Arg1011Ter)
|
rs966620721
|
|
|
NM_178857.6(RP1L1):c.1069C>A (p.Pro357Thr)
|
rs774393294
|
|
|
NM_178857.6(RP1L1):c.5015C>T (p.Pro1672Leu)
|
rs767925466
|
|
|
NM_178857.6(RP1L1):c.5293G>A (p.Gly1765Arg)
|
rs760567875
|
|
|
NM_178857.6(RP1L1):c.539C>T (p.Ala180Val)
|
rs2486318073
|
|
|
NM_181078.3(IL21R):c.835C>T (p.Pro279Ser)
|
rs2087472224
|
|
|
NM_181303.2(NLGN3):c.146G>A (p.Gly49Glu)
|
rs2519735024
|
|
|
NM_181303.2(NLGN3):c.2243G>A (p.Arg748Gln)
|
rs748757954
|
|
|
NM_181332.3(NLGN4X):c.1309C>T (p.Arg437Trp)
|
rs2518445960
|
|
|
NM_181332.3(NLGN4X):c.1614A>C (p.Gln538His)
|
rs1021946988
|
|
|
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
|
rs755140645
|
|
|
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
|
rs1248002681
|
|
|
NM_181523.3(PIK3R1):c.748C>G (p.Leu250Val)
|
rs1746796050
|
|
|
NM_181552.4(CUX1):c.1261C>T (p.Arg421Trp)
|
rs1265377432
|
|
|
NM_181552.4(CUX1):c.1641G>T (p.Glu547Asp)
|
rs782123498
|
|
|
NM_181552.4(CUX1):c.2401G>A (p.Asp801Asn)
|
rs782194580
|
|
|
NM_181552.4(CUX1):c.3277A>G (p.Ser1093Gly)
|
rs2485985174
|
|
|
NM_181552.4(CUX1):c.3974G>C (p.Arg1325Pro)
|
rs200727809
|
|
|
NM_181552.4(CUX1):c.4156_4157delinsCT (p.Ala1386Leu)
|
rs2486378057
|
|
|
NM_181552.4(CUX1):c.4298C>G (p.Ala1433Gly)
|
rs782643537
|
|
|
NM_181672.3(OGT):c.2218G>A (p.Asp740Asn)
|
rs2522854181
|
|
|
NM_181672.3(OGT):c.2855C>T (p.Ala952Val)
|
rs2522860710
|
|
|
NM_181705.4(LYRM7):c.128A>G (p.Asn43Ser)
|
rs2479611457
|
|
|
NM_181705.4(LYRM7):c.142TCT[1] (p.Ser49del)
|
rs762109952
|
|
|
NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)
|
rs1246524534
|
|
|
NM_181776.3(SLC36A2):c.793_794dup (p.Pro266fs)
|
rs1275965637
|
|
|
NM_181783.4(TMTC3):c.1357G>T (p.Gly453Cys)
|
rs1387722469
|
|
|
NM_181882.3(PRX):c.232_233delinsAC (p.Glu78Thr)
|
rs2514811149
|
|
|
NM_181882.3(PRX):c.2383A>G (p.Met795Val)
|
rs2079430675
|
|
|
NM_181882.3(PRX):c.2812C>T (p.Leu938Phe)
|
rs2514802065
|
|
|
NM_181882.3(PRX):c.3638T>C (p.Met1213Thr)
|
rs2514799168
|
|
|
NM_182493.3(MYLK3):c.30del (p.His11fs)
|
rs765941019
|
|
|
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)
|
rs373755299
|
|
|
NM_182641.4(BPTF):c.206G>C (p.Gly69Ala)
|
rs1244643578
|
|
|
NM_182641.4(BPTF):c.2437A>T (p.Met813Leu)
|
rs1413074557
|
|
|
NM_182641.4(BPTF):c.3545A>G (p.Gln1182Arg)
|
rs2511462178
|
|
|
NM_182641.4(BPTF):c.508G>A (p.Asp170Asn)
|
rs2509405417
|
|
|
NM_182641.4(BPTF):c.6322G>A (p.Ala2108Thr)
|
rs1012381606
|
|
|
NM_182699.4(DDX53):c.259G>T (p.Gly87Trp)
|
rs1933787800
|
|
|
NM_182746.3(MCM4):c.732CTT[1] (p.Phe246del)
|
rs767666486
|
|
|
NM_182914.3(SYNE2):c.10029G>A (p.Met3343Ile)
|
rs2548360503
|
|
|
NM_182914.3(SYNE2):c.10046C>T (p.Ala3349Val)
|
rs12436178
|
|
|
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg)
|
rs375398029
|
|
|
NM_182914.3(SYNE2):c.10639G>A (p.Ala3547Thr)
|
rs1198798280
|
|
|
NM_182914.3(SYNE2):c.10948T>C (p.Tyr3650His)
|
rs2097455850
|
|
|
NM_182914.3(SYNE2):c.11011A>G (p.Ile3671Val)
|
rs2097456190
|
|
|
NM_182914.3(SYNE2):c.1129-3C>A
|
rs774196804
|
|
|
NM_182914.3(SYNE2):c.11324G>A (p.Cys3775Tyr)
|
rs137977109
|
|
|
NM_182914.3(SYNE2):c.11498del (p.Asp3833fs)
|
rs2548700132
|
|
|
NM_182914.3(SYNE2):c.11545G>A (p.Glu3849Lys)
|
rs749468370
|
|
|
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly)
|
rs1555473349
|
|
|
NM_182914.3(SYNE2):c.1168C>T (p.Pro390Ser)
|
rs2550828419
|
|
|
NM_182914.3(SYNE2):c.1171C>A (p.Pro391Thr)
|
rs2550828440
|
|
|
NM_182914.3(SYNE2):c.11876C>G (p.Thr3959Arg)
|
rs149790389
|
|
|
NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg)
|
rs2153635602
|
|
|
NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)
|
rs2548839593
|
|
|
NM_182914.3(SYNE2):c.12229G>A (p.Gly4077Arg)
|
rs1008498138
|
|
|
NM_182914.3(SYNE2):c.12244A>G (p.Arg4082Gly)
|
rs2548839867
|
|
|
NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)
|
rs779957646
|
|
|
NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)
|
rs2550828945
|
|
|
NM_182914.3(SYNE2):c.1294-3C>T
|
rs2096556836
|
|
|
NM_182914.3(SYNE2):c.12965T>C (p.Val4322Ala)
|
rs767400013
|
|
|
NM_182914.3(SYNE2):c.13159G>C (p.Val4387Leu)
|
rs764515386
|
|
|
NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)
|
rs1165841766
|
|
|
NM_182914.3(SYNE2):c.14239A>C (p.Met4747Leu)
|
rs759983332
|
|
|
NM_182914.3(SYNE2):c.14257A>G (p.Ile4753Val)
|
rs886042776
|
|
|
NM_182914.3(SYNE2):c.14292_14296del (p.Lys4764fs)
|
rs754077290
|
|
|
NM_182914.3(SYNE2):c.14993T>G (p.Val4998Gly)
|
rs1463128504
|
|
|
NM_182914.3(SYNE2):c.15277C>G (p.Gln5093Glu)
|
rs768467644
|
|
|
NM_182914.3(SYNE2):c.15307G>C (p.Glu5103Gln)
|
rs2098160107
|
|
|
NM_182914.3(SYNE2):c.15763T>C (p.Phe5255Leu)
|
rs2549473182
|
|
|
NM_182914.3(SYNE2):c.15779G>C (p.Ser5260Thr)
|
rs2098253723
|
|
|
NM_182914.3(SYNE2):c.1595T>C (p.Leu532Pro)
|
rs2550861533
|
|
|
NM_182914.3(SYNE2):c.16169A>G (p.Tyr5390Cys)
|
rs2549555490
|
|
|
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del)
|
rs751691446
|
|
|
NM_182914.3(SYNE2):c.16364G>T (p.Arg5455Leu)
|
rs1176640692
|
|
|
NM_182914.3(SYNE2):c.16451T>C (p.Met5484Thr)
|
rs760397352
|
|
|
NM_182914.3(SYNE2):c.16595A>T (p.Asp5532Val)
|
rs772769879
|
|
|
NM_182914.3(SYNE2):c.16981A>T (p.Thr5661Ser)
|
rs2549600591
|
|
|
NM_182914.3(SYNE2):c.1700T>C (p.Val567Ala)
|
rs2096581707
|
|
|
NM_182914.3(SYNE2):c.17189A>G (p.Glu5730Gly)
|
rs2549609706
|
|
|
NM_182914.3(SYNE2):c.17592C>G (p.Asn5864Lys)
|
rs2549756395
|
|
|
NM_182914.3(SYNE2):c.17653A>G (p.Met5885Val)
|
rs137866467
|
|
|
NM_182914.3(SYNE2):c.17953A>G (p.Asn5985Asp)
|
rs2549807264
|
|
|
NM_182914.3(SYNE2):c.18103C>A (p.Arg6035Ser)
|
rs748944053
|
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.18601C>T (p.Arg6201Trp)
|
rs151081811
|
|
|
NM_182914.3(SYNE2):c.18614G>A (p.Arg6205Gln)
|
rs1431570657
|
|
|
NM_182914.3(SYNE2):c.18796C>G (p.Leu6266Val)
|
rs765976678
|
|
|
NM_182914.3(SYNE2):c.18922G>A (p.Glu6308Lys)
|
rs766830821
|
|
|
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19403-1G>C
|
rs2550192922
|
|
|
NM_182914.3(SYNE2):c.19628G>T (p.Gly6543Val)
|
rs138090822
|
|
|
NM_182914.3(SYNE2):c.19802A>G (p.Lys6601Arg)
|
rs2550234025
|
|
|
NM_182914.3(SYNE2):c.19861G>A (p.Glu6621Lys)
|
rs2550249512
|
|
|
NM_182914.3(SYNE2):c.19933C>G (p.Gln6645Glu)
|
rs1423476815
|
|
|
NM_182914.3(SYNE2):c.19946C>T (p.Pro6649Leu)
|
rs751591037
|
|
|
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)
|
rs140676416
|
|
|
NM_182914.3(SYNE2):c.20470-1G>T
|
rs768422375
|
|
|
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe)
|
rs564532190
|
|
|
NM_182914.3(SYNE2):c.20570C>T (p.Ala6857Val)
|
rs777821278
|
|
|
NM_182914.3(SYNE2):c.20635G>C (p.Glu6879Gln)
|
rs371152824
|
|
|
NM_182914.3(SYNE2):c.2119G>C (p.Glu707Gln)
|
rs917117538
|
|
|
NM_182914.3(SYNE2):c.2151+1G>T
|
rs2550886121
|
|
|
NM_182914.3(SYNE2):c.2313+1G>A
|
rs2096627723
|
|
|
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His)
|
rs760909392
|
|
|
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2647-2A>G
|
rs866089213
|
|
|
NM_182914.3(SYNE2):c.2950T>G (p.Ser984Ala)
|
rs2096718557
|
|
|
NM_182914.3(SYNE2):c.3190C>T (p.Pro1064Ser)
|
rs767713385
|
|
|
NM_182914.3(SYNE2):c.3319G>T (p.Asp1107Tyr)
|
rs772380121
|
|
|
NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)
|
rs377084463
|
|
|
NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)
|
rs2550516619
|
|
|
NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)
|
rs865957955
|
|
|
NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr)
|
rs1309435421
|
|
|
NM_182914.3(SYNE2):c.4607T>C (p.Leu1536Pro)
|
rs2551045076
|
|
|
NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)
|
rs756963953
|
|
|
NM_182914.3(SYNE2):c.475G>T (p.Val159Phe)
|
rs1323596481
|
|
|
NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His)
|
rs746284520
|
|
|
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del)
|
rs1430734342
|
|
|
NM_182914.3(SYNE2):c.4967A>C (p.Asn1656Thr)
|
rs1012379516
|
|
|
NM_182914.3(SYNE2):c.5107A>G (p.Ile1703Val)
|
rs775006855
|
|
|
NM_182914.3(SYNE2):c.6153T>G (p.His2051Gln)
|
rs2551146060
|
|
|
NM_182914.3(SYNE2):c.6553T>C (p.Tyr2185His)
|
rs2096991041
|
|
|
NM_182914.3(SYNE2):c.6557A>C (p.Lys2186Thr)
|
rs1434669493
|
|
|
NM_182914.3(SYNE2):c.6579A>T (p.Gln2193His)
|
rs373963217
|
|
|
NM_182914.3(SYNE2):c.6658G>A (p.Glu2220Lys)
|
rs2548022948
|
|
|
NM_182914.3(SYNE2):c.6728A>C (p.Asn2243Thr)
|
rs748682867
|
|
|
NM_182914.3(SYNE2):c.6766G>A (p.Val2256Ile)
|
rs2548047048
|
|
|
NM_182914.3(SYNE2):c.690G>C (p.Met230Ile)
|
rs2096220312
|
|
|
NM_182914.3(SYNE2):c.6992A>G (p.Asp2331Gly)
|
rs2548060159
|
|
|
NM_182914.3(SYNE2):c.7166C>T (p.Ser2389Phe)
|
rs1228094269
|
|
|
NM_182914.3(SYNE2):c.7768G>C (p.Asp2590His)
|
rs1555452706
|
|
|
NM_182914.3(SYNE2):c.7821G>C (p.Trp2607Cys)
|
rs759309364
|
|
|
NM_182914.3(SYNE2):c.7858C>T (p.Gln2620Ter)
|
rs2548316584
|
|
|
NM_182914.3(SYNE2):c.8080T>A (p.Trp2694Arg)
|
rs2548319270
|
|
|
NM_182914.3(SYNE2):c.8097GAA[1] (p.Lys2700del)
|
rs1465822656
|
|
|
NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser)
|
rs1459614876
|
|
|
NM_182914.3(SYNE2):c.886C>A (p.Gln296Lys)
|
rs2550692191
|
|
|
NM_182914.3(SYNE2):c.8960G>A (p.Arg2987Lys)
|
rs2548327358
|
|
|
NM_182914.3(SYNE2):c.9085A>G (p.Lys3029Glu)
|
rs2097239154
|
|
|
NM_182914.3(SYNE2):c.9328A>G (p.Thr3110Ala)
|
rs2153577383
|
|
|
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu)
|
rs768731460
|
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
|
NM_182925.5(FLT4):c.2459G>C (p.Gly820Ala)
|
rs555761930
|
|
|
NM_182925.5(FLT4):c.2644A>G (p.Lys882Glu)
|
rs2480892220
|
|
|
NM_182925.5(FLT4):c.3181G>C (p.Asp1061His)
|
rs2480864921
|
|
|
NM_182925.5(FLT4):c.3220-10G>A
|
rs369575233
|
|
|
NM_182925.5(FLT4):c.3977C>T (p.Ala1326Val)
|
rs766308772
|
|
|
NM_182931.3(KMT2E):c.14T>A (p.Ile5Asn)
|
rs748387280
|
|
|
NM_182931.3(KMT2E):c.2321T>C (p.Leu774Ser)
|
rs2536502951
|
|
|
NM_182931.3(KMT2E):c.316A>G (p.Ile106Val)
|
rs969860024
|
|
|
NM_182931.3(KMT2E):c.417-2dup
|
rs768141716
|
|
|
NM_182931.3(KMT2E):c.4650_4658del (p.Pro1551_Ser1553del)
|
rs2536525423
|
|
|
NM_182931.3(KMT2E):c.5251C>T (p.Pro1751Ser)
|
rs1584821298
|
|
|
NM_182931.3(KMT2E):c.986A>C (p.Lys329Thr)
|
rs1340708145
|
|
|
NM_182943.3(PLOD2):c.2143A>G (p.Arg715Gly)
|
rs2473216005
|
|
|
NM_182961.4(SYNE1):c.-3A>C
|
rs2516874549
|
|
|
NM_182961.4(SYNE1):c.1022A>T (p.Glu341Val)
|
rs914117644
|
|
|
NM_182961.4(SYNE1):c.10275AAC[1] (p.Thr3427del)
|
rs2488908082
|
|
|
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
|
rs745547865
|
|
|
NM_182961.4(SYNE1):c.10484A>T (p.Gln3495Leu)
|
rs2488639626
|
|
|
NM_182961.4(SYNE1):c.10549C>G (p.Gln3517Glu)
|
rs748306486
|
|
|
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys)
|
rs1214109688
|
|
|
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met)
|
rs567753957
|
|
|
NM_182961.4(SYNE1):c.11030G>T (p.Cys3677Phe)
|
rs148028681
|
|
|
NM_182961.4(SYNE1):c.11277A>G (p.Lys3759=)
|
rs2487862511
|
|
|
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly)
|
rs2096752876
|
|
|
NM_182961.4(SYNE1):c.11560G>T (p.Ala3854Ser)
|
rs776601282
|
|
|
NM_182961.4(SYNE1):c.11639G>C (p.Gly3880Ala)
|
rs2487658381
|
|
|
NM_182961.4(SYNE1):c.11659G>A (p.Val3887Met)
|
rs753931727
|
|
|
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
|
rs750372071
|
|
|
NM_182961.4(SYNE1):c.116C>G (p.Ser39Cys)
|
rs886043971
|
|
|
NM_182961.4(SYNE1):c.11727A>G (p.Ile3909Met)
|
rs367946740
|
|
|
NM_182961.4(SYNE1):c.11959G>A (p.Gly3987Ser)
|
rs2487158999
|
|
|
NM_182961.4(SYNE1):c.12015C>A (p.Asn4005Lys)
|
rs1370153399
|
|
|
NM_182961.4(SYNE1):c.12016G>A (p.Val4006Met)
|
rs886042919
|
|
|
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)
|
rs756840607
|
|
|
NM_182961.4(SYNE1):c.12056C>G (p.Ala4019Gly)
|
rs756840607
|
|
|
NM_182961.4(SYNE1):c.12119G>A (p.Ser4040Asn)
|
rs756591744
|
|
|
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys)
|
rs1159138676
|
|
|
NM_182961.4(SYNE1):c.12160G>C (p.Ala4054Pro)
|
rs776079675
|
|
|
NM_182961.4(SYNE1):c.12211G>A (p.Glu4071Lys)
|
rs201946369
|
|
|
NM_182961.4(SYNE1):c.12332T>C (p.Ile4111Thr)
|
rs2486177603
|
|
|
NM_182961.4(SYNE1):c.12342_12350del (p.Glu4115_Thr4117del)
|
rs749906433
|
|
|
NM_182961.4(SYNE1):c.12343G>A (p.Glu4115Lys)
|
rs2096480308
|
|
|
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.13005A>T (p.Lys4335Asn)
|
rs2485327968
|
|
|
NM_182961.4(SYNE1):c.13052C>A (p.Ser4351Tyr)
|
rs776011593
|
|
|
NM_182961.4(SYNE1):c.1319A>G (p.Asn440Ser)
|
rs2505666005
|
|
|
NM_182961.4(SYNE1):c.13285G>A (p.Asp4429Asn)
|
rs762245840
|
|
|
NM_182961.4(SYNE1):c.13304A>C (p.Asn4435Thr)
|
rs2096244385
|
|
|
NM_182961.4(SYNE1):c.13321G>C (p.Val4441Leu)
|
rs1191241476
|
|
|
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)
|
rs554814659
|
|
|
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly)
|
rs2153973254
|
|
|
NM_182961.4(SYNE1):c.13619A>G (p.Gln4540Arg)
|
rs2096237423
|
|
|
NM_182961.4(SYNE1):c.13765A>G (p.Ile4589Val)
|
rs2485189545
|
|
|
NM_182961.4(SYNE1):c.13842A>C (p.Glu4614Asp)
|
rs763026083
|
|
|
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup)
|
rs886043161
|
|
|
NM_182961.4(SYNE1):c.14107_14108delinsTT (p.Asp4703Phe)
|
rs2485156705
|
|
|
NM_182961.4(SYNE1):c.14108A>G (p.Asp4703Gly)
|
rs536809904
|
|
|
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
|
rs758169226
|
|
|
NM_182961.4(SYNE1):c.14150G>A (p.Arg4717Lys)
|
rs1178660606
|
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
|
NM_182961.4(SYNE1):c.14426T>G (p.Leu4809Arg)
|
rs2485126270
|
|
|
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
|
rs765285280
|
|
|
NM_182961.4(SYNE1):c.14722A>T (p.Ser4908Cys)
|
rs750417575
|
|
|
NM_182961.4(SYNE1):c.14834G>A (p.Ser4945Asn)
|
rs2485084872
|
|
|
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val)
|
rs756766678
|
|
|
NM_182961.4(SYNE1):c.15377A>T (p.Glu5126Val)
|
rs773536890
|
|
|
NM_182961.4(SYNE1):c.15476T>G (p.Ile5159Ser)
|
rs1474047577
|
|
|
NM_182961.4(SYNE1):c.15478G>C (p.Val5160Leu)
|
rs2484608864
|
|
|
NM_182961.4(SYNE1):c.15536C>T (p.Ala5179Val)
|
rs1563076661
|
|
|
NM_182961.4(SYNE1):c.15555G>T (p.Met5185Ile)
|
rs2484596478
|
|
|
NM_182961.4(SYNE1):c.15713C>T (p.Ser5238Leu)
|
rs2484350270
|
|
|
NM_182961.4(SYNE1):c.15784G>C (p.Glu5262Gln)
|
rs552970298
|
|
|
NM_182961.4(SYNE1):c.16337C>T (p.Thr5446Ile)
|
rs766875930
|
|
|
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16532C>G (p.Thr5511Ser)
|
rs2483641673
|
|
|
NM_182961.4(SYNE1):c.16543G>A (p.Ala5515Thr)
|
rs886042274
|
|
|
NM_182961.4(SYNE1):c.16828G>A (p.Gly5610Arg)
|
rs2095522708
|
|
|
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
|
rs2482799625
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.16985G>C (p.Arg5662Pro)
|
rs144895914
|
|
|
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
|
rs754313756
|
|
|
NM_182961.4(SYNE1):c.17129A>G (p.His5710Arg)
|
rs2482643245
|
|
|
NM_182961.4(SYNE1):c.17174C>T (p.Thr5725Ile)
|
rs751747080
|
|
|
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
|
rs775685010
|
|
|
NM_182961.4(SYNE1):c.17267_17268delinsTT (p.Gly5756Val)
|
rs2552092412
|
|
|
NM_182961.4(SYNE1):c.17386_17387delinsAA (p.Ala5796Asn)
|
rs886043200
|
|
|
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val)
|
rs2153813002
|
|
|
NM_182961.4(SYNE1):c.17509C>A (p.Pro5837Thr)
|
rs762353997
|
|
|
NM_182961.4(SYNE1):c.17542-5G>A
|
rs776747142
|
|
|
NM_182961.4(SYNE1):c.17563A>G (p.Thr5855Ala)
|
rs1161321370
|
|
|
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)
|
rs767844376
|
|
|
NM_182961.4(SYNE1):c.17674G>C (p.Val5892Leu)
|
rs942721092
|
|
|
NM_182961.4(SYNE1):c.180T>G (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.18150A>C (p.Leu6050Phe)
|
rs2552022290
|
|
|
NM_182961.4(SYNE1):c.1820T>A (p.Met607Lys)
|
rs2503655890
|
|
|
NM_182961.4(SYNE1):c.1838C>G (p.Ser613Cys)
|
rs140135976
|
|
|
NM_182961.4(SYNE1):c.18496G>T (p.Ala6166Ser)
|
rs757119443
|
|
|
NM_182961.4(SYNE1):c.1850G>A (p.Arg617His)
|
rs1041006707
|
|
|
NM_182961.4(SYNE1):c.18517A>G (p.Lys6173Glu)
|
rs1232761468
|
|
|
NM_182961.4(SYNE1):c.18662C>G (p.Thr6221Ser)
|
rs150335599
|
|
|
NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=)
|
rs771466788
|
|
|
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn)
|
rs2092878526
|
|
|
NM_182961.4(SYNE1):c.18770A>G (p.Glu6257Gly)
|
rs762064772
|
|
|
NM_182961.4(SYNE1):c.18950T>A (p.Leu6317Gln)
|
rs2551881991
|
|
|
NM_182961.4(SYNE1):c.18983G>A (p.Arg6328Lys)
|
rs2551854342
|
|
|
NM_182961.4(SYNE1):c.19019A>G (p.Lys6340Arg)
|
rs2551854056
|
|
|
NM_182961.4(SYNE1):c.19038A>C (p.Gln6346His)
|
rs2551853969
|
|
|
NM_182961.4(SYNE1):c.19112G>T (p.Gly6371Val)
|
rs2551849613
|
|
|
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
|
rs769911507
|
|
|
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr)
|
rs996252466
|
|
|
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
|
rs2090468441
|
|
|
NM_182961.4(SYNE1):c.19374G>C (p.Leu6458Phe)
|
rs756669728
|
|
|
NM_182961.4(SYNE1):c.19474G>C (p.Asp6492His)
|
rs2551777276
|
|
|
NM_182961.4(SYNE1):c.19573-1193C>A
|
rs188868532
|
|
|
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys)
|
rs1290381941
|
|
|
NM_182961.4(SYNE1):c.19692+5A>G
|
rs2086605464
|
|
|
NM_182961.4(SYNE1):c.19832G>A (p.Gly6611Glu)
|
rs1411420007
|
|
|
NM_182961.4(SYNE1):c.19855T>C (p.Ser6619Pro)
|
rs2551725690
|
|
|
NM_182961.4(SYNE1):c.19986C>A (p.Phe6662Leu)
|
rs1265778592
|
|
|
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr)
|
rs2085071185
|
|
|
NM_182961.4(SYNE1):c.20015C>T (p.Ala6672Val)
|
rs2551712047
|
|
|
NM_182961.4(SYNE1):c.20045T>C (p.Val6682Ala)
|
rs2551711797
|
|
|
NM_182961.4(SYNE1):c.20059A>C (p.Ile6687Leu)
|
rs2551711713
|
|
|
NM_182961.4(SYNE1):c.20166_20168del (p.Glu6722del)
|
rs2551698537
|
|
|
NM_182961.4(SYNE1):c.20209T>A (p.Ser6737Thr)
|
rs2551695362
|
|
|
NM_182961.4(SYNE1):c.20507G>T (p.Arg6836Leu)
|
rs374083524
|
|
|
NM_182961.4(SYNE1):c.20633G>T (p.Arg6878Leu)
|
rs775765441
|
|
|
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His)
|
rs758105121
|
|
|
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly)
|
rs886044105
|
|
|
NM_182961.4(SYNE1):c.20875G>A (p.Asp6959Asn)
|
rs778417284
|
|
|
NM_182961.4(SYNE1):c.21349A>C (p.Met7117Leu)
|
rs766914765
|
|
|
NM_182961.4(SYNE1):c.21368T>A (p.Ile7123Lys)
|
rs2081031958
|
|
|
NM_182961.4(SYNE1):c.21513C>G (p.Asp7171Glu)
|
rs2081000163
|
|
|
NM_182961.4(SYNE1):c.21608C>T (p.Pro7203Leu)
|
rs2551509634
|
|
|
NM_182961.4(SYNE1):c.21673G>A (p.Glu7225Lys)
|
rs2551506514
|
|
|
NM_182961.4(SYNE1):c.21748C>G (p.Gln7250Glu)
|
rs774934026
|
|
|
NM_182961.4(SYNE1):c.21778G>A (p.Asp7260Asn)
|
rs2551505712
|
|
|
NM_182961.4(SYNE1):c.21829G>C (p.Asp7277His)
|
rs2551505286
|
|
|
NM_182961.4(SYNE1):c.21943G>C (p.Asp7315His)
|
rs1234299926
|
|
|
NM_182961.4(SYNE1):c.21953C>T (p.Ala7318Val)
|
rs2551496271
|
|
|
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
|
rs1466018376
|
|
|
NM_182961.4(SYNE1):c.22044+3A>G
|
rs761961310
|
|
|
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
|
rs759308583
|
|
|
NM_182961.4(SYNE1):c.22177A>T (p.Met7393Leu)
|
rs1277447348
|
|
|
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp)
|
rs767375107
|
|
|
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys)
|
rs554483231
|
|
|
NM_182961.4(SYNE1):c.22334C>A (p.Thr7445Lys)
|
rs1333921772
|
|
|
NM_182961.4(SYNE1):c.22378A>G (p.Thr7460Ala)
|
rs2551440959
|
|
|
NM_182961.4(SYNE1):c.22495-4A>G
|
rs1563543659
|
|
|
NM_182961.4(SYNE1):c.22600A>T (p.Asn7534Tyr)
|
rs2551332823
|
|
|
NM_182961.4(SYNE1):c.22613C>T (p.Thr7538Ile)
|
rs2551332495
|
|
|
NM_182961.4(SYNE1):c.22687C>T (p.Arg7563Cys)
|
rs369909016
|
|
|
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His)
|
rs768489386
|
|
|
NM_182961.4(SYNE1):c.22703A>G (p.Tyr7568Cys)
|
rs2551330117
|
|
|
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly)
|
rs2153408610
|
|
|
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del)
|
rs1360697609
|
|
|
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val)
|
rs555792275
|
|
|
NM_182961.4(SYNE1):c.22972A>G (p.Ser7658Gly)
|
rs1438394866
|
|
|
NM_182961.4(SYNE1):c.23006C>G (p.Ala7669Gly)
|
rs1452906754
|
|
|
NM_182961.4(SYNE1):c.23038A>G (p.Lys7680Glu)
|
rs2551250487
|
|
|
NM_182961.4(SYNE1):c.23291T>C (p.Leu7764Pro)
|
rs2071491116
|
|
|
NM_182961.4(SYNE1):c.23504A>G (p.Gln7835Arg)
|
rs2550802127
|
|
|
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr)
|
rs2153025589
|
|
|
NM_182961.4(SYNE1):c.23963T>C (p.Met7988Thr)
|
rs2550278592
|
|
|
NM_182961.4(SYNE1):c.24037G>T (p.Asp8013Tyr)
|
rs1381849152
|
|
|
NM_182961.4(SYNE1):c.24124T>C (p.Phe8042Leu)
|
rs2550229204
|
|
|
NM_182961.4(SYNE1):c.2413C>T (p.Pro805Ser)
|
rs2502875539
|
|
|
NM_182961.4(SYNE1):c.2436G>T (p.Gln812His)
|
rs2098714147
|
|
|
NM_182961.4(SYNE1):c.24379A>G (p.Met8127Val)
|
rs2060437692
|
|
|
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp)
|
rs36215251
|
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
|
NM_182961.4(SYNE1):c.24742C>G (p.Leu8248Val)
|
rs753595713
|
|
|
NM_182961.4(SYNE1):c.24988G>A (p.Ala8330Thr)
|
rs2058944748
|
|
|
NM_182961.4(SYNE1):c.25142G>T (p.Ser8381Ile)
|
rs1366039204
|
|
|
NM_182961.4(SYNE1):c.25243G>T (p.Ala8415Ser)
|
rs915667198
|
|
|
NM_182961.4(SYNE1):c.25247G>A (p.Gly8416Asp)
|
rs2549628296
|
|
|
NM_182961.4(SYNE1):c.254G>T (p.Arg85Leu)
|
rs575386895
|
|
|
NM_182961.4(SYNE1):c.25595A>T (p.Asp8532Val)
|
rs778496219
|
|
|
NM_182961.4(SYNE1):c.25696C>A (p.Leu8566Met)
|
rs886043887
|
|
|
NM_182961.4(SYNE1):c.25798C>G (p.His8600Asp)
|
rs1449517778
|
|
|
NM_182961.4(SYNE1):c.26192C>T (p.Pro8731Leu)
|
rs762769598
|
|
|
NM_182961.4(SYNE1):c.26311G>A (p.Asp8771Asn)
|
rs1182754638
|
|
|
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26384C>T (p.Pro8795Leu)
|
rs2549087894
|
|
|
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2686A>G (p.Arg896Gly)
|
rs2502498090
|
|
|
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
|
rs138453650
|
|
|
NM_182961.4(SYNE1):c.2799G>T (p.Glu933Asp)
|
rs1483419290
|
|
|
NM_182961.4(SYNE1):c.3070A>T (p.Ile1024Phe)
|
rs2501679872
|
|
|
NM_182961.4(SYNE1):c.3116G>A (p.Arg1039Lys)
|
rs9371596
|
|
|
NM_182961.4(SYNE1):c.3127G>C (p.Asp1043His)
|
rs2501669193
|
|
|
NM_182961.4(SYNE1):c.3351G>T (p.Arg1117Ser)
|
rs2501552565
|
|
|
NM_182961.4(SYNE1):c.3871G>C (p.Asp1291His)
|
rs2500047152
|
|
|
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
|
rs2500037945
|
|
|
NM_182961.4(SYNE1):c.3911G>A (p.Gly1304Glu)
|
rs141164314
|
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
|
NM_182961.4(SYNE1):c.3947A>T (p.Lys1316Met)
|
rs2500025123
|
|
|
NM_182961.4(SYNE1):c.395A>G (p.Tyr132Cys)
|
rs749161966
|
|
|
NM_182961.4(SYNE1):c.413T>C (p.Leu138Ser)
|
rs952877027
|
|
|
NM_182961.4(SYNE1):c.4191G>T (p.Glu1397Asp)
|
rs777782632
|
|
|
NM_182961.4(SYNE1):c.4523A>T (p.Gln1508Leu)
|
rs1395485847
|
|
|
NM_182961.4(SYNE1):c.4546A>G (p.Thr1516Ala)
|
rs2098420106
|
|
|
NM_182961.4(SYNE1):c.4789-3T>C
|
rs1228194784
|
|
|
NM_182961.4(SYNE1):c.4796G>C (p.Cys1599Ser)
|
rs777679979
|
|
|
NM_182961.4(SYNE1):c.4856T>C (p.Val1619Ala)
|
rs2498521505
|
|
|
NM_182961.4(SYNE1):c.4886C>T (p.Ala1629Val)
|
rs759856917
|
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
|
NM_182961.4(SYNE1):c.4966C>A (p.His1656Asn)
|
rs759645521
|
|
|
NM_182961.4(SYNE1):c.5016G>A (p.Glu1672=)
|
rs761629532
|
|
|
NM_182961.4(SYNE1):c.5182T>A (p.Ser1728Thr)
|
rs1563924889
|
|
|
NM_182961.4(SYNE1):c.5309T>G (p.Phe1770Cys)
|
rs1592308632
|
|
|
NM_182961.4(SYNE1):c.5335G>A (p.Val1779Ile)
|
rs1563883766
|
|
|
NM_182961.4(SYNE1):c.539C>G (p.Ala180Gly)
|
rs2508966423
|
|
|
NM_182961.4(SYNE1):c.5632G>T (p.Ala1878Ser)
|
rs2496949882
|
|
|
NM_182961.4(SYNE1):c.5654G>T (p.Arg1885Leu)
|
rs754420786
|
|
|
NM_182961.4(SYNE1):c.5687G>C (p.Ser1896Thr)
|
rs1592253022
|
|
|
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr)
|
rs917922270
|
|
|
NM_182961.4(SYNE1):c.5731G>A (p.Asp1911Asn)
|
rs979671629
|
|
|
NM_182961.4(SYNE1):c.5894T>C (p.Leu1965Pro)
|
rs2496904764
|
|
|
NM_182961.4(SYNE1):c.593T>C (p.Ile198Thr)
|
rs1564513959
|
|
|
NM_182961.4(SYNE1):c.5966A>C (p.Glu1989Ala)
|
rs762574786
|
|
|
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
|
rs1250204451
|
|
|
NM_182961.4(SYNE1):c.6184C>G (p.Arg2062Gly)
|
rs746057788
|
|
|
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
|
rs542032376
|
|
|
NM_182961.4(SYNE1):c.6202G>C (p.Asp2068His)
|
rs144797013
|
|
|
NM_182961.4(SYNE1):c.6230+1529A>G
|
rs1466914901
|
|
|
NM_182961.4(SYNE1):c.6242G>A (p.Cys2081Tyr)
|
rs2097980035
|
|
|
NM_182961.4(SYNE1):c.6292G>A (p.Val2098Ile)
|
rs794727674
|
|
|
NM_182961.4(SYNE1):c.6541G>A (p.Val2181Ile)
|
rs758683858
|
|
|
NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=)
|
rs1193871694
|
|
|
NM_182961.4(SYNE1):c.6748A>G (p.Arg2250Gly)
|
rs2097862349
|
|
|
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala)
|
rs1384232957
|
|
|
NM_182961.4(SYNE1):c.6926T>G (p.Val2309Gly)
|
rs1384232957
|
|
|
NM_182961.4(SYNE1):c.6992C>T (p.Ala2331Val)
|
rs2494326756
|
|
|
NM_182961.4(SYNE1):c.7117G>A (p.Ala2373Thr)
|
rs2494107708
|
|
|
NM_182961.4(SYNE1):c.7243A>G (p.Met2415Val)
|
rs1195967479
|
|
|
NM_182961.4(SYNE1):c.7302T>G (p.Asp2434Glu)
|
rs2493959617
|
|
|
NM_182961.4(SYNE1):c.7468A>G (p.Thr2490Ala)
|
rs2493735662
|
|
|
NM_182961.4(SYNE1):c.7507T>C (p.Cys2503Arg)
|
rs2493731025
|
|
|
NM_182961.4(SYNE1):c.7697A>G (p.Glu2566Gly)
|
rs1414855229
|
|
|
NM_182961.4(SYNE1):c.7746G>C (p.Gln2582His)
|
rs2097629135
|
|
|
NM_182961.4(SYNE1):c.7826T>C (p.Leu2609Pro)
|
rs2493084791
|
|
|
NM_182961.4(SYNE1):c.7829G>A (p.Arg2610Lys)
|
rs921251906
|
|
|
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
|
NM_182961.4(SYNE1):c.8005-7T>G
|
rs2492926483
|
|
|
NM_182961.4(SYNE1):c.8053A>T (p.Ile2685Phe)
|
rs2492914620
|
|
|
NM_182961.4(SYNE1):c.8085C>A (p.Ser2695Arg)
|
rs772654089
|
|
|
NM_182961.4(SYNE1):c.8093A>G (p.Glu2698Gly)
|
rs886042685
|
|
|
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
|
rs142676206
|
|
|
NM_182961.4(SYNE1):c.8475G>C (p.Met2825Ile)
|
rs2492440752
|
|
|
NM_182961.4(SYNE1):c.8477C>A (p.Thr2826Asn)
|
rs2492439755
|
|
|
NM_182961.4(SYNE1):c.8627C>T (p.Thr2876Ile)
|
rs2154123961
|
|
|
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr)
|
rs2154115485
|
|
|
NM_182961.4(SYNE1):c.9086T>A (p.Phe3029Tyr)
|
rs201410714
|
|
|
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser)
|
rs1554580101
|
|
|
NM_182961.4(SYNE1):c.920A>G (p.Asn307Ser)
|
rs2507397978
|
|
|
NM_182961.4(SYNE1):c.9356A>C (p.His3119Pro)
|
rs369930567
|
|
|
NM_182961.4(SYNE1):c.9407C>G (p.Thr3136Ser)
|
rs766460713
|
|
|
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser)
|
rs1563432555
|
|
|
NM_182961.4(SYNE1):c.9807+6G>T
|
rs376694958
|
|
|
NM_182961.4(SYNE1):c.9808-10T>A
|
rs754163922
|
|
|
NM_182972.3(IRF2BP2):c.1606C>T (p.Gln536Ter)
|
rs765750383
|
|
|
NM_183075.3(CYP2U1):c.1586G>A (p.Gly529Asp)
|
rs2477049419
|
|
|
NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
|
rs104894497
|
|
|
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
|
rs2542776752
|
|
|
NM_183357.3(ADCY5):c.2558T>C (p.Met853Thr)
|
rs1470490448
|
|
|
NM_183357.3(ADCY5):c.427G>C (p.Ala143Pro)
|
rs1375462182
|
|
|
NM_183357.3(ADCY5):c.880C>T (p.His294Tyr)
|
rs1404557474
|
|
|
NM_194248.3(OTOF):c.1538A>G (p.His513Arg)
|
rs2465272441
|
|
|
NM_194248.3(OTOF):c.2256G>A (p.Glu752=)
|
rs2465598763
|
|
|
NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)
|
rs1666136193
|
|
|
NM_194277.3(FRMD7):c.810T>G (p.Thr270=)
|
rs2520731626
|
|
|
NM_194279.4(ISCA2):c.422A>T (p.Gln141Leu)
|
rs375133115
|
|
|
NM_194436.3(LDHD):c.395_396del (p.Val132fs)
|
rs2507049299
|
|
|
NM_198173.3(GRHL3):c.720C>T (p.Ala240=)
|
rs1569884380
|
|
|
NM_198241.3(EIF4G1):c.1001C>A (p.Pro334Gln)
|
rs200405556
|
|
|
NM_198241.3(EIF4G1):c.3392C>A (p.Pro1131His)
|
rs2474110081
|
|
|
NM_198253.3(TERT):c.1283G>A (p.Arg428Gln)
|
rs1751141313
|
|
|
NM_198253.3(TERT):c.1987A>C (p.Ser663Arg)
|
rs1749860434
|
|
|
NM_198253.3(TERT):c.2270A>G (p.Lys757Arg)
|
rs1187645843
|
|
|
NM_198253.3(TERT):c.3063_3064delinsAT (p.Phe1021_His1022delinsLeuTyr)
|
rs2478083886
|
|
|
NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)
|
rs765444837
|
|
|
NM_198282.4(STING1):c.65C>A (p.Ala22Asp)
|
rs1481478083
|
|
|
NM_198334.3(GANAB):c.2420G>C (p.Gly807Ala)
|
rs2496294484
|
|
|
NM_198334.3(GANAB):c.760G>A (p.Glu254Lys)
|
rs2496357763
|
|
|
NM_198407.2(GHSR):c.575dup (p.Trp193fs)
|
rs2473557264
|
|
|
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)
|
rs2538378297
|
|
|
NM_198503.5(KCNT2):c.1187A>G (p.Asp396Gly)
|
rs2527823676
|
|
|
NM_198503.5(KCNT2):c.87C>G (p.Asn29Lys)
|
rs758363314
|
|
|
NM_198510.3(ITIH6):c.1861del (p.Arg621fs)
|
rs1569543898
|
|
|
NM_198525.3(KIF7):c.641C>A (p.Ser214Tyr)
|
rs757264040
|
|
|
NM_198569.3(ADGRG6):c.2180C>G (p.Pro727Arg)
|
rs1775771728
|
|
|
NM_198576.4(AGRN):c.10C>T (p.Arg4Trp)
|
rs1337682906
|
|
|
NM_198576.4(AGRN):c.1702G>A (p.Gly568Ser)
|
rs1645008527
|
|
|
NM_198576.4(AGRN):c.238G>C (p.Val80Leu)
|
rs2523175385
|
|
|
NM_198576.4(AGRN):c.2482C>G (p.Pro828Ala)
|
rs773983766
|
|
|
NM_198576.4(AGRN):c.3569G>C (p.Arg1190Pro)
|
rs149762107
|
|
|
NM_198576.4(AGRN):c.3584G>A (p.Gly1195Glu)
|
rs2522740398
|
|
|
NM_198576.4(AGRN):c.3881C>G (p.Thr1294Arg)
|
rs1382084056
|
|
|
NM_198576.4(AGRN):c.4339G>A (p.Val1447Met)
|
rs201436229
|
|
|
NM_198576.4(AGRN):c.4757C>T (p.Ala1586Val)
|
rs1645227480
|
|
|
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)
|
rs769494139
|
|
|
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr)
|
rs538792693
|
|
|
NM_198576.4(AGRN):c.5908A>G (p.Asn1970Asp)
|
rs1473312060
|
|
|
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del)
|
rs749209897
|
|
|
NM_198576.4(AGRN):c.810C>T (p.Cys270=)
|
rs2522661466
|
|
|
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
|
rs33949390
|
|
|
NM_198578.4(LRRK2):c.7450C>A (p.Gln2484Lys)
|
rs2500058679
|
|
|
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
|
rs2533896638
|
|
|
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
|
rs1783741543
|
|
|
NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)
|
rs28940575
|
|
|
NM_198859.4(PRICKLE2):c.985G>T (p.Ala329Ser)
|
rs1447125975
|
|
|
NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)
|
rs1314981903
|
|
|
NM_198880.3(QRICH1):c.476C>A (p.Pro159His)
|
rs1351493829
|
|
|
NM_198880.3(QRICH1):c.701G>A (p.Arg234Gln)
|
rs897524034
|
|
|
NM_198904.4(GABRG2):c.524A>G (p.Asp175Gly)
|
rs2532569436
|
|
|
NM_198904.4(GABRG2):c.631+10A>G
|
rs2532582106
|
|
|
NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)
|
rs2514369624
|
|
|
NM_198994.3(TGM6):c.897del (p.Ser300fs)
|
rs2514373985
|
|
|
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)
|
rs2485155048
|
|
|
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter)
|
rs527841371
|
|
|
NM_199242.3(UNC13D):c.1246G>A (p.Val416Ile)
|
rs1232770117
|
|
|
NM_199242.3(UNC13D):c.2089A>G (p.Met697Val)
|
rs977219681
|
|
|
NM_199242.3(UNC13D):c.2125C>T (p.Arg709Trp)
|
rs548101215
|
|
|
NM_199242.3(UNC13D):c.3103G>A (p.Gly1035Ser)
|
rs1350790099
|
|
|
NM_199242.3(UNC13D):c.389-55C>T
|
rs2545987477
|
|
|
NM_201253.3(CRB1):c.3275G>A (p.Gly1092Asp)
|
rs996284286
|
|
|
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
|
rs1665279918
|
|
|
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)
|
rs1667262233
|
|
|
NM_201384.3(PLEC):c.10012G>C (p.Val3338Leu)
|
rs1554679577
|
|
|
NM_201384.3(PLEC):c.10045A>G (p.Thr3349Ala)
|
rs2537285416
|
|
|
NM_201384.3(PLEC):c.10076G>C (p.Gly3359Ala)
|
rs886044825
|
|
|
NM_201384.3(PLEC):c.10216C>G (p.Arg3406Gly)
|
rs781882032
|
|
|
NM_201384.3(PLEC):c.10356G>C (p.Gln3452His)
|
rs1840270863
|
|
|
NM_201384.3(PLEC):c.10361G>C (p.Gly3454Ala)
|
rs1821777711
|
|
|
NM_201384.3(PLEC):c.10381G>T (p.Gly3461Cys)
|
rs376924341
|
|
|
NM_201384.3(PLEC):c.10406T>G (p.Ile3469Ser)
|
rs781883102
|
|
|
NM_201384.3(PLEC):c.10536C>A (p.Phe3512Leu)
|
rs184952405
|
|
|
NM_201384.3(PLEC):c.10586G>T (p.Arg3529Leu)
|
rs199815198
|
|
|
NM_201384.3(PLEC):c.10868T>G (p.Ile3623Ser)
|
rs2539373999
|
|
|
NM_201384.3(PLEC):c.10895T>C (p.Ile3632Thr)
|
rs1554676660
|
|
|
NM_201384.3(PLEC):c.10957T>C (p.Phe3653Leu)
|
rs2539363625
|
|
|
NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln)
|
rs369798520
|
|
|
NM_201384.3(PLEC):c.11000G>T (p.Arg3667Leu)
|
rs369798520
|
|
|
NM_201384.3(PLEC):c.11074G>A (p.Val3692Met)
|
rs201892506
|
|
|
NM_201384.3(PLEC):c.11089C>G (p.Leu3697Val)
|
rs17062686
|
|
|
NM_201384.3(PLEC):c.11150C>T (p.Ala3717Val)
|
rs375586872
|
|
|
NM_201384.3(PLEC):c.11299G>T (p.Ala3767Ser)
|
rs782235531
|
|
|
NM_201384.3(PLEC):c.113-3C>T
|
rs1587225364
|
|
|
NM_201384.3(PLEC):c.11392C>G (p.Arg3798Gly)
|
rs782111846
|
|
|
NM_201384.3(PLEC):c.11392C>T (p.Arg3798Trp)
|
rs782111846
|
|
|
NM_201384.3(PLEC):c.11402A>G (p.Asp3801Gly)
|
rs2539315992
|
|
|
NM_201384.3(PLEC):c.11600ACG[1] (p.Asp3868del)
|
rs782034895
|
|
|
NM_201384.3(PLEC):c.11764A>G (p.Thr3922Ala)
|
rs1821142736
|
|
|
NM_201384.3(PLEC):c.11983A>G (p.Ile3995Val)
|
rs2539259788
|
|
|
NM_201384.3(PLEC):c.12000C>G (p.Phe4000Leu)
|
rs2539258392
|
|
|
NM_201384.3(PLEC):c.12406G>A (p.Val4136Met)
|
rs749212061
|
|
|
NM_201384.3(PLEC):c.1241A>G (p.Gln414Arg)
|
rs1828203118
|
|
|
NM_201384.3(PLEC):c.12577A>T (p.Met4193Leu)
|
rs1820870341
|
|
|
NM_201384.3(PLEC):c.12758C>T (p.Ser4253Phe)
|
rs1554670852
|
|
|
NM_201384.3(PLEC):c.12814G>C (p.Asp4272His)
|
rs1820781719
|
|
|
NM_201384.3(PLEC):c.12818C>G (p.Pro4273Arg)
|
rs2130823282
|
|
|
NM_201384.3(PLEC):c.12874G>T (p.Val4292Leu)
|
rs1820764559
|
|
|
NM_201384.3(PLEC):c.13094A>G (p.Lys4365Arg)
|
rs2539164902
|
|
|
NM_201384.3(PLEC):c.13112C>T (p.Ala4371Val)
|
rs1820690934
|
|
|
NM_201384.3(PLEC):c.13208C>T (p.Pro4403Leu)
|
rs781860439
|
|
|
NM_201384.3(PLEC):c.13307C>T (p.Thr4436Ile)
|
rs1554669404
|
|
|
NM_201384.3(PLEC):c.13323G>C (p.Lys4441Asn)
|
rs1554669313
|
|
|
NM_201384.3(PLEC):c.13468C>A (p.Arg4490Ser)
|
rs782717056
|
|
|
NM_201384.3(PLEC):c.13475G>A (p.Gly4492Asp)
|
rs2539132939
|
|
|
NM_201384.3(PLEC):c.13494_13505del (p.Ala4499_Arg4502del)
|
rs782675738
|
|
|
NM_201384.3(PLEC):c.13507C>T (p.Arg4503Cys)
|
rs548839677
|
|
|
NM_201384.3(PLEC):c.1382A>T (p.Asp461Val)
|
rs1827939862
|
|
|
NM_201384.3(PLEC):c.1402G>C (p.Glu468Gln)
|
rs781951806
|
|
|
NM_201384.3(PLEC):c.1415G>T (p.Arg472Leu)
|
rs374962842
|
|
|
NM_201384.3(PLEC):c.1454G>T (p.Arg485Leu)
|
rs200328762
|
|
|
NM_201384.3(PLEC):c.1745T>C (p.Leu582Pro)
|
rs1827745982
|
|
|
NM_201384.3(PLEC):c.1747T>C (p.Ser583Pro)
|
rs1827745304
|
|
|
NM_201384.3(PLEC):c.1778G>A (p.Cys593Tyr)
|
rs782375393
|
|
|
NM_201384.3(PLEC):c.1786C>G (p.Arg596Gly)
|
rs556691235
|
|
|
NM_201384.3(PLEC):c.1832G>T (p.Arg611Leu)
|
rs782391070
|
|
|
NM_201384.3(PLEC):c.1841C>G (p.Ser614Cys)
|
rs1554717325
|
|
|
NM_201384.3(PLEC):c.1927G>C (p.Asp643His)
|
rs375857355
|
|
|
NM_201384.3(PLEC):c.1989G>T (p.Arg663=)
|
rs1554716579
|
|
|
NM_201384.3(PLEC):c.2006AGA[2] (p.Lys671del)
|
rs782157103
|
|
|
NM_201384.3(PLEC):c.2072C>T (p.Pro691Leu)
|
rs1554716385
|
|
|
NM_201384.3(PLEC):c.2138G>C (p.Cys713Ser)
|
rs553811387
|
|
|
NM_201384.3(PLEC):c.2142C>G (p.Ile714Met)
|
rs782027096
|
|
|
NM_201384.3(PLEC):c.2236C>T (p.Arg746Cys)
|
rs782156696
|
|
|
NM_201384.3(PLEC):c.2269_2274dup (p.Val757_Thr758dup)
|
rs1827261502
|
|
|
NM_201384.3(PLEC):c.233C>G (p.Ser78Cys)
|
rs893680154
|
|
|
NM_201384.3(PLEC):c.2405C>G (p.Pro802Arg)
|
rs1826879495
|
|
|
NM_201384.3(PLEC):c.2434G>A (p.Val812Met)
|
rs372398638
|
|
|
NM_201384.3(PLEC):c.2458G>T (p.Val820Leu)
|
rs781793434
|
|
|
NM_201384.3(PLEC):c.250T>A (p.Ser84Thr)
|
rs782150431
|
|
|
NM_201384.3(PLEC):c.2560G>A (p.Val854Met)
|
rs370464447
|
|
|
NM_201384.3(PLEC):c.2560G>T (p.Val854Leu)
|
rs370464447
|
|
|
NM_201384.3(PLEC):c.2578C>G (p.Pro860Ala)
|
rs1554713120
|
|
|
NM_201384.3(PLEC):c.2585A>G (p.Asn862Ser)
|
rs2538567300
|
|
|
NM_201384.3(PLEC):c.2620G>A (p.Ala874Thr)
|
rs782212880
|
|
|
NM_201384.3(PLEC):c.2716A>T (p.Ile906Phe)
|
rs1210721750
|
|
|
NM_201384.3(PLEC):c.2744G>A (p.Arg915His)
|
rs781951273
|
|
|
NM_201384.3(PLEC):c.2863G>A (p.Glu955Lys)
|
rs1015204448
|
|
|
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup)
|
rs782308502
|
|
|
NM_201384.3(PLEC):c.3134C>T (p.Ala1045Val)
|
rs782571566
|
|
|
NM_201384.3(PLEC):c.3136G>C (p.Glu1046Gln)
|
rs781823745
|
|
|
NM_201384.3(PLEC):c.3298G>A (p.Gly1100Arg)
|
rs201404741
|
|
|
NM_201384.3(PLEC):c.3298G>C (p.Gly1100Arg)
|
rs201404741
|
|
|
NM_201384.3(PLEC):c.3429G>T (p.Gln1143His)
|
rs1467185685
|
|
|
NM_201384.3(PLEC):c.3436T>A (p.Phe1146Ile)
|
rs1554708450
|
|
|
NM_201384.3(PLEC):c.3493C>A (p.Gln1165Lys)
|
rs2538300107
|
|
|
NM_201384.3(PLEC):c.3652C>T (p.Pro1218Ser)
|
rs1586970289
|
|
|
NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr)
|
rs782539707
|
|
|
NM_201384.3(PLEC):c.3775G>A (p.Glu1259Lys)
|
rs782555191
|
|
|
NM_201384.3(PLEC):c.3778C>T (p.Arg1260Cys)
|
rs151022876
|
|
|
NM_201384.3(PLEC):c.3847G>A (p.Glu1283Lys)
|
rs782537906
|
|
|
NM_201384.3(PLEC):c.3881A>T (p.Glu1294Val)
|
rs1554706509
|
|
|
NM_201384.3(PLEC):c.4033G>A (p.Glu1345Lys)
|
rs375230228
|
|
|
NM_201384.3(PLEC):c.406C>T (p.Leu136Phe)
|
rs1829227630
|
|
|
NM_201384.3(PLEC):c.4199_4219del (p.Glu1400_Glu1406del)
|
rs2538094960
|
|
|
NM_201384.3(PLEC):c.4252A>G (p.Ile1418Val)
|
rs2538090079
|
|
|
NM_201384.3(PLEC):c.4321G>A (p.Glu1441Lys)
|
rs1824826894
|
|
|
NM_201384.3(PLEC):c.4373G>T (p.Arg1458Leu)
|
rs782720526
|
|
|
NM_201384.3(PLEC):c.4435C>T (p.Arg1479Cys)
|
rs782801825
|
|
|
NM_201384.3(PLEC):c.4515C>G (p.Asp1505Glu)
|
rs375697033
|
|
|
NM_201384.3(PLEC):c.4562_4588del (p.Val1521_Arg1529del)
|
rs1314573580
|
|
|
NM_201384.3(PLEC):c.4741A>C (p.Lys1581Gln)
|
rs2538023345
|
|
|
NM_201384.3(PLEC):c.4784C>T (p.Ser1595Phe)
|
rs1206944270
|
|
|
NM_201384.3(PLEC):c.4868_4888dup (p.Arg1629_Glu1630insAlaArgGluGluAlaGluArg)
|
rs1436911149
|
|
|
NM_201384.3(PLEC):c.4897C>T (p.Arg1633Cys)
|
rs782816453
|
|
|
NM_201384.3(PLEC):c.4898G>A (p.Arg1633His)
|
rs782039716
|
|
|
NM_201384.3(PLEC):c.4961A>C (p.Gln1654Pro)
|
rs2537990918
|
|
|
NM_201384.3(PLEC):c.5030G>T (p.Gly1677Val)
|
rs1554699592
|
|
|
NM_201384.3(PLEC):c.5096A>G (p.Gln1699Arg)
|
rs782263820
|
|
|
NM_201384.3(PLEC):c.5118G>T (p.Gln1706His)
|
rs1554699097
|
|
|
NM_201384.3(PLEC):c.5241G>A (p.Thr1747=)
|
rs1216335768
|
|
|
NM_201384.3(PLEC):c.5249G>A (p.Arg1750Gln)
|
rs782302326
|
|
|
NM_201384.3(PLEC):c.5256G>T (p.Glu1752Asp)
|
rs782572982
|
|
|
NM_201384.3(PLEC):c.5276A>C (p.Lys1759Thr)
|
rs2537942587
|
|
|
NM_201384.3(PLEC):c.5386T>G (p.Phe1796Val)
|
rs2537922211
|
|
|
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)
|
rs782213742
|
|
|
NM_201384.3(PLEC):c.5587_5613dup (p.Glu1871_Asp1872insAsnGluArgLeuArgArgLeuAlaGlu)
|
rs1554696651
|
|
|
NM_201384.3(PLEC):c.5762G>T (p.Arg1921Leu)
|
rs557915279
|
|
|
NM_201384.3(PLEC):c.5803G>A (p.Glu1935Lys)
|
rs782279963
|
|
|
NM_201384.3(PLEC):c.5818G>A (p.Gly1940Ser)
|
rs1554695776
|
|
|
NM_201384.3(PLEC):c.5828AGCTGG[2] (p.1943EL[2])
|
rs782811601
|
|
|
NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4])
|
rs782811601
|
|
|
NM_201384.3(PLEC):c.594C>A (p.His198Gln)
|
rs782193446
|
|
|
NM_201384.3(PLEC):c.595C>T (p.Arg199Trp)
|
rs374865893
|
|
|
NM_201384.3(PLEC):c.5965C>A (p.Arg1989Ser)
|
rs201465091
|
|
|
NM_201384.3(PLEC):c.5990AGG[2] (p.Glu1999del)
|
rs548427460
|
|
|
NM_201384.3(PLEC):c.6001G>T (p.Ala2001Ser)
|
rs535202853
|
|
|
NM_201384.3(PLEC):c.6019G>T (p.Ala2007Ser)
|
rs1823888191
|
|
|
NM_201384.3(PLEC):c.6066G>A (p.Arg2022=)
|
rs545632286
|
|
|
NM_201384.3(PLEC):c.6074G>T (p.Arg2025Leu)
|
rs546512137
|
|
|
NM_201384.3(PLEC):c.6080G>T (p.Arg2027Leu)
|
rs782194846
|
|
|
NM_201384.3(PLEC):c.6116C>T (p.Ala2039Val)
|
rs2537800635
|
|
|
NM_201384.3(PLEC):c.6137G>T (p.Arg2046Leu)
|
rs368319141
|
|
|
NM_201384.3(PLEC):c.6164C>T (p.Ala2055Val)
|
rs1554694067
|
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
|
NM_201384.3(PLEC):c.6418A>G (p.Lys2140Glu)
|
rs782773070
|
|
|
NM_201384.3(PLEC):c.6565A>T (p.Thr2189Ser)
|
rs782026559
|
|
|
NM_201384.3(PLEC):c.6700C>A (p.Arg2234Ser)
|
rs782319175
|
|
|
NM_201384.3(PLEC):c.6846_6875del (p.Ser2284_Leu2293del)
|
rs2537683823
|
|
|
NM_201384.3(PLEC):c.6853G>A (p.Val2285Met)
|
rs1554691302
|
|
|
NM_201384.3(PLEC):c.6919T>G (p.Leu2307Val)
|
rs1262506255
|
|
|
NM_201384.3(PLEC):c.6988G>A (p.Glu2330Lys)
|
rs2537668724
|
|
|
NM_201384.3(PLEC):c.7134G>A (p.Met2378Ile)
|
rs782127583
|
|
|
NM_201384.3(PLEC):c.7178G>T (p.Ser2393Ile)
|
rs1554690399
|
|
|
NM_201384.3(PLEC):c.7288C>G (p.Leu2430Val)
|
rs782252125
|
|
|
NM_201384.3(PLEC):c.7291G>A (p.Val2431Met)
|
rs2537626899
|
|
|
NM_201384.3(PLEC):c.730C>T (p.Pro244Ser)
|
rs782283467
|
|
|
NM_201384.3(PLEC):c.7311G>C (p.Gln2437His)
|
rs1454413335
|
|
|
NM_201384.3(PLEC):c.7370G>A (p.Arg2457His)
|
rs199504105
|
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
|
NM_201384.3(PLEC):c.7442_7450del (p.Gln2481_Gln2483del)
|
rs1554689556
|
|
|
NM_201384.3(PLEC):c.7490C>G (p.Ser2497Cys)
|
rs1554689367
|
|
|
NM_201384.3(PLEC):c.7607_7618dup (p.Arg2536_Gln2539dup)
|
rs1372588772
|
|
|
NM_201384.3(PLEC):c.7609CAG[5] (p.Gln2540_Met2541insGln)
|
rs782806023
|
|
|
NM_201384.3(PLEC):c.7699C>A (p.Arg2567=)
|
rs782083663
|
|
|
NM_201384.3(PLEC):c.7798C>T (p.Leu2600Phe)
|
rs2537541895
|
|
|
NM_201384.3(PLEC):c.8003A>C (p.Glu2668Ala)
|
rs2537515100
|
|
|
NM_201384.3(PLEC):c.8019G>T (p.Ala2673=)
|
rs374178650
|
|
|
NM_201384.3(PLEC):c.8166T>A (p.Ser2722Arg)
|
rs2537495811
|
|
|
NM_201384.3(PLEC):c.8333_8334delinsCC (p.Lys2778Thr)
|
rs1822684534
|
|
|
NM_201384.3(PLEC):c.8555G>T (p.Gly2852Val)
|
rs2537454872
|
|
|
NM_201384.3(PLEC):c.8888T>G (p.Val2963Gly)
|
rs1586829907
|
|
|
NM_201384.3(PLEC):c.8890G>A (p.Glu2964Lys)
|
rs1822427518
|
|
|
NM_201384.3(PLEC):c.8949C>G (p.Ala2983=)
|
rs201312718
|
|
|
NM_201384.3(PLEC):c.8969G>C (p.Arg2990Thr)
|
rs797044721
|
|
|
NM_201384.3(PLEC):c.9040G>C (p.Asp3014His)
|
rs2131106331
|
|
|
NM_201384.3(PLEC):c.9082G>T (p.Gly3028Cys)
|
rs1438959129
|
|
|
NM_201384.3(PLEC):c.9316A>G (p.Arg3106Gly)
|
rs368572993
|
|
|
NM_201384.3(PLEC):c.9385C>A (p.Gln3129Lys)
|
rs2537364308
|
|
|
NM_201384.3(PLEC):c.9395G>T (p.Arg3132Leu)
|
rs375527116
|
|
|
NM_201384.3(PLEC):c.9451C>T (p.Arg3151Cys)
|
rs781903647
|
|
|
NM_201384.3(PLEC):c.949C>A (p.Leu317Met)
|
rs200798987
|
|
|
NM_201384.3(PLEC):c.952T>C (p.Trp318Arg)
|
rs2539004385
|
|
|
NM_201384.3(PLEC):c.9531C>A (p.Asp3177Glu)
|
rs782764977
|
|
|
NM_201384.3(PLEC):c.9566C>T (p.Pro3189Leu)
|
rs1554681155
|
|
|
NM_201384.3(PLEC):c.9577G>A (p.Gly3193Ser)
|
rs201402970
|
|
|
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)
|
rs201402970
|
|
|
NM_201384.3(PLEC):c.9599_9607dup (p.Arg3200_Asp3202dup)
|
rs782633303
|
|
|
NM_201384.3(PLEC):c.9647C>T (p.Ala3216Val)
|
rs1554680911
|
|
|
NM_201384.3(PLEC):c.9667G>C (p.Glu3223Gln)
|
rs886044801
|
|
|
NM_201384.3(PLEC):c.9708G>C (p.Lys3236Asn)
|
rs782753536
|
|
|
NM_201384.3(PLEC):c.9782A>G (p.Tyr3261Cys)
|
rs2537318679
|
|
|
NM_201384.3(PLEC):c.9865A>G (p.Ile3289Val)
|
rs2131033863
|
|
|
NM_201548.5(CERKL):c.808T>G (p.Leu270Val)
|
rs1341426481
|
|
|
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)
|
rs764111314
|
|
|
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro)
|
rs577739840
|
|
|
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile)
|
rs747480172
|
|
|
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser)
|
rs886039055
|
|
|
NM_201631.4(TGM5):c.1518A>T (p.Gln506His)
|
rs961610741
|
|
|
NM_203446.3(SYNJ1):c.1726+5G>T
|
rs2516651364
|
|
|
NM_203447.4(DOCK8):c.*1031G>A
|
rs149002313
|
|
|
NM_203447.4(DOCK8):c.1964A>G (p.Gln655Arg)
|
rs750213861
|
|
|
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)
|
rs372858877
|
|
|
NM_203447.4(DOCK8):c.4268C>G (p.Ala1423Gly)
|
rs750589703
|
|
|
NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=)
|
rs150682688
|
|
|
NM_203447.4(DOCK8):c.6147C>G (p.Asn2049Lys)
|
rs2537631384
|
|
|
NM_205836.3(FBXO38):c.1717G>T (p.Asp573Tyr)
|
rs1753588872
|
|
|
NM_205836.3(FBXO38):c.2072T>C (p.Ile691Thr)
|
rs765514195
|
|
|
NM_205861.3(DHDDS):c.290C>T (p.Ala97Val)
|
rs2075232074
|
|
|
NM_205861.3(DHDDS):c.40C>T (p.Arg14Trp)
|
rs1429309776
|
|
|
NM_205861.3(DHDDS):c.622_646del (p.Gly208fs)
|
rs2524686662
|
|
|
NM_205861.3(DHDDS):c.685C>A (p.Pro229Thr)
|
rs1424726101
|
|
|
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)
|
rs778103040
|
|
|
NM_205861.3(DHDDS):c.944A>G (p.Gln315Arg)
|
rs2524817600
|
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
|
NM_206933.4(USH2A):c.10939+293A>T
|
rs185424646
|
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
rs765606907
|
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
|
NM_206933.4(USH2A):c.7321C>G (p.Pro2441Ala)
|
rs1665479411
|
|
|
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)
|
rs773779627
|
|
|
NM_207037.2(TCF12):c.1612G>A (p.Val538Ile)
|
rs767728750
|
|
|
NM_207037.2(TCF12):c.370A>G (p.Thr124Ala)
|
rs757400383
|
|
|
NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)
|
rs2534122493
|
|
|
NM_207111.4(RNF216):c.1del (p.Met1fs)
|
rs772343425
|
|
|
NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)
|
rs1238972268
|
|
|
NM_207346.3(TSEN54):c.1107_1112dup (p.Pro370_Glu371insAspPro)
|
rs1568003622
|
|
|
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)
|
rs1555644694
|
|
|
NM_207346.3(TSEN54):c.1503C>G (p.Ile501Met)
|
rs2147019632
|
|
|
NM_207361.6(FREM2):c.1364G>A (p.Arg455Gln)
|
rs1217298919
|
|
|
NM_207361.6(FREM2):c.5617G>A (p.Val1873Ile)
|
rs1267391578
|
|
|
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser)
|
rs143576067
|
|
|
NM_207421.4(PADI6):c.1854dup (p.Arg619fs)
|
rs2526275374
|
|
|
NM_212482.4(FN1):c.3673_3674del (p.Val1225fs)
|
rs2469816477
|
|
|
NM_212482.4(FN1):c.5413_5414del (p.Leu1805fs)
|
rs1335199101
|
|
|
NM_212482.4(FN1):c.7009G>A (p.Asp2337Asn)
|
rs2106183202
|
|
|
NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)
|
rs2528310707
|
|
|
NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)
|
rs1692523487
|
|
|
NM_213595.4(ISCU):c.368_369del (p.Thr123fs)
|
rs2540780693
|
|
|
NM_213599.2(ANO5):c.-907C>G
|
rs1851682887
|
|
|
NM_213599.3(ANO5):c.1019A>C (p.Glu340Ala)
|
rs2494258976
|
|
|
NM_213599.3(ANO5):c.1036A>G (p.Ile346Val)
|
rs146233625
|
|
|
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)
|
rs1554929295
|
|
|
NM_213599.3(ANO5):c.1091G>T (p.Arg364Ile)
|
rs1326553523
|
|
|
NM_213599.3(ANO5):c.1106G>A (p.Cys369Tyr)
|
rs886044154
|
|
|
NM_213599.3(ANO5):c.1191T>A (p.Phe397Leu)
|
rs2494285616
|
|
|
NM_213599.3(ANO5):c.1388G>A (p.Gly463Glu)
|
rs1854050845
|
|
|
NM_213599.3(ANO5):c.139C>T (p.Pro47Ser)
|
rs147323556
|
|
|
NM_213599.3(ANO5):c.1409T>A (p.Met470Lys)
|
rs1403946332
|
|
|
NM_213599.3(ANO5):c.1420G>T (p.Val474Phe)
|
rs750702622
|
|
|
NM_213599.3(ANO5):c.1492G>A (p.Asp498Asn)
|
rs2494306324
|
|
|
NM_213599.3(ANO5):c.1514A>G (p.Lys505Arg)
|
rs147924106
|
|
|
NM_213599.3(ANO5):c.1534A>G (p.Ile512Val)
|
rs1354557357
|
|
|
NM_213599.3(ANO5):c.1606A>C (p.Ile536Leu)
|
rs770320815
|
|
|
NM_213599.3(ANO5):c.1691A>T (p.Gln564Leu)
|
rs1410381664
|
|
|
NM_213599.3(ANO5):c.1736A>T (p.Lys579Ile)
|
rs1554931810
|
|
|
NM_213599.3(ANO5):c.1801T>G (p.Cys601Gly)
|
rs201467684
|
|
|
NM_213599.3(ANO5):c.188A>G (p.Lys63Arg)
|
rs2494117657
|
|
|
NM_213599.3(ANO5):c.1961G>T (p.Arg654Leu)
|
rs775059978
|
|
|
NM_213599.3(ANO5):c.2011T>C (p.Tyr671His)
|
rs1854567149
|
|
|
NM_213599.3(ANO5):c.2020T>C (p.Leu674=)
|
rs2494364134
|
|
|
NM_213599.3(ANO5):c.2030-3_2030-2dup
|
rs768691315
|
|
|
NM_213599.3(ANO5):c.2063C>A (p.Ala688Asp)
|
rs2494376091
|
|
|
NM_213599.3(ANO5):c.2193A>C (p.Gln731His)
|
rs745356431
|
|
|
NM_213599.3(ANO5):c.2222C>A (p.Ser741Tyr)
|
rs1216567128
|
|
|
NM_213599.3(ANO5):c.2435C>T (p.Pro812Leu)
|
rs1854836805
|
|
|
NM_213599.3(ANO5):c.2496G>T (p.Lys832Asn)
|
rs2494394054
|
|
|
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)
|
rs142073798
|
|
|
NM_213599.3(ANO5):c.2533T>A (p.Leu845Ile)
|
rs1215521198
|
|
|
NM_213599.3(ANO5):c.2534T>C (p.Leu845Ser)
|
rs2494411711
|
|
|
NM_213599.3(ANO5):c.2646C>A (p.Asn882Lys)
|
rs34969327
|
|
|
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
|
rs2494716427
|
|
|
NM_213599.3(ANO5):c.476C>T (p.Pro159Leu)
|
rs2494150031
|
|
|
NM_213599.3(ANO5):c.534T>G (p.Ser178Arg)
|
rs1852879821
|
|
|
NM_213599.3(ANO5):c.578G>A (p.Arg193Lys)
|
rs2494150905
|
|
|
NM_213599.3(ANO5):c.751C>T (p.Pro251Ser)
|
rs2133648746
|
|
|
NM_213599.3(ANO5):c.791C>G (p.Pro264Arg)
|
rs2494206268
|
|
|
NM_213599.3(ANO5):c.828T>G (p.Asn276Lys)
|
rs761221167
|
|
|
NM_213599.3(ANO5):c.842C>A (p.Ser281Tyr)
|
rs1590266478
|
|
|
NM_213622.4(STAMBP):c.1011C>T (p.His337=)
|
rs2466756504
|
|
|
NM_213622.4(STAMBP):c.767A>T (p.His256Leu)
|
rs1200687710
|
|
|
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly)
|
rs951686050
|
|
|
NR_028089.1(NXF5):n.652T>A
|
rs1924763806
|
|