NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser)
|
rs144466778
|
0.00034
|
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)
|
rs140883211
|
0.00033
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
NM_004082.5(DCTN1):c.3029+6G>T
|
rs754143116
|
0.00029
|
NM_213720.3(CHCHD10):c.409+1G>A
|
rs367684804
|
0.00025
|
NM_000454.5(SOD1):c.239+6A>C
|
rs374610141
|
0.00022
|
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)
|
rs80356715
|
0.00022
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)
|
rs140066692
|
0.00019
|
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly)
|
rs545080321
|
0.00018
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)
|
rs186547381
|
0.00016
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
0.00015
|
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)
|
rs144370662
|
0.00015
|
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)
|
rs149380040
|
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_000344.4(SMN1):c.864G>T (p.Arg288Ser)
|
rs368899583
|
0.00014
|
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)
|
rs140599944
|
0.00014
|
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg)
|
rs376802604
|
0.00014
|
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val)
|
rs367968662
|
0.00014
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
0.00014
|
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr)
|
rs376564889
|
0.00013
|
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)
|
rs776489779
|
0.00013
|
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)
|
rs201239306
|
0.00012
|
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr)
|
rs113980038
|
0.00012
|
NM_004082.5(DCTN1):c.2015+3A>G
|
rs200057343
|
0.00012
|
NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile)
|
rs1336386973
|
0.00012
|
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala)
|
rs150798076
|
0.00011
|
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly)
|
rs187434401
|
0.00011
|
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu)
|
rs34774243
|
0.00011
|
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)
|
rs200792883
|
0.00011
|
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)
|
rs752506754
|
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_004082.5(DCTN1):c.40A>G (p.Ser14Gly)
|
rs758320436
|
0.00010
|
NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro)
|
rs372096285
|
0.00010
|
NM_004960.4(FUS):c.661_663del (p.Ser221del)
|
rs746633090
|
0.00010
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00009
|
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)
|
rs201923000
|
0.00009
|
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)
|
rs144718603
|
0.00009
|
NM_014043.4(CHMP2B):c.532-3T>C
|
rs375829451
|
0.00009
|
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)
|
rs144637575
|
0.00009
|
NM_199189.3(MATR3):c.-339+2T>A
|
rs539017488
|
0.00009
|
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)
|
rs371719657
|
0.00008
|
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln)
|
rs151052060
|
0.00008
|
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser)
|
rs372751122
|
0.00008
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)
|
rs142812715
|
0.00007
|
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His)
|
rs149424705
|
0.00007
|
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His)
|
rs369086889
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val)
|
rs781268909
|
0.00007
|
NM_004082.5(DCTN1):c.3529+3A>G
|
rs370727908
|
0.00007
|
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys)
|
rs141670992
|
0.00007
|
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met)
|
rs755520364
|
0.00007
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr)
|
rs760492259
|
0.00006
|
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)
|
rs750995656
|
0.00006
|
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)
|
rs199854262
|
0.00006
|
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)
|
rs769325755
|
0.00006
|
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His)
|
rs902195752
|
0.00006
|
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)
|
rs1478180381
|
0.00006
|
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile)
|
rs376283809
|
0.00006
|
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)
|
rs752889531
|
0.00006
|
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)
|
rs764443534
|
0.00006
|
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val)
|
rs72659379
|
0.00006
|
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)
|
rs145819459
|
0.00006
|
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg)
|
rs758026180
|
0.00006
|
NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala)
|
rs762752851
|
0.00006
|
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln)
|
rs573184955
|
0.00006
|
NM_004960.4(FUS):c.630G>C (p.Gln210His)
|
rs779124981
|
0.00006
|
NM_007126.5(VCP):c.1482+4G>A
|
rs768327051
|
0.00006
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
0.00006
|
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp)
|
rs373536428
|
0.00006
|
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
0.00006
|
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val)
|
rs766453846
|
0.00006
|
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu)
|
rs151191977
|
0.00005
|
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln)
|
rs1258386028
|
0.00005
|
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)
|
rs148294622
|
0.00005
|
NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly)
|
rs145857843
|
0.00005
|
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu)
|
rs752079233
|
0.00005
|
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly)
|
rs780875333
|
0.00005
|
NM_004082.5(DCTN1):c.35C>T (p.Thr12Met)
|
rs72659364
|
0.00005
|
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)
|
rs149447433
|
0.00005
|
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala)
|
rs752091117
|
0.00005
|
NM_013254.4(TBK1):c.1718G>A (p.Arg573His)
|
rs186475789
|
0.00005
|
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser)
|
rs387906712
|
0.00005
|
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser)
|
rs768029813
|
0.00004
|
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)
|
rs377219791
|
0.00004
|
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys)
|
rs759605171
|
0.00004
|
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln)
|
rs577097767
|
0.00004
|
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)
|
rs757411888
|
0.00004
|
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)
|
rs200551825
|
0.00004
|
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu)
|
rs745356508
|
0.00004
|
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile)
|
rs539682696
|
0.00004
|
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)
|
rs141502868
|
0.00004
|
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)
|
rs761822261
|
0.00004
|
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)
|
rs142719499
|
0.00004
|
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)
|
rs150926394
|
0.00004
|
NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln)
|
rs752399708
|
0.00004
|
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val)
|
rs763480310
|
0.00004
|
NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser)
|
rs146865209
|
0.00004
|
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His)
|
rs758712765
|
0.00004
|
NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys)
|
rs377183051
|
0.00004
|
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr)
|
rs374163967
|
0.00004
|
NM_004082.5(DCTN1):c.259A>G (p.Ile87Val)
|
rs969750631
|
0.00004
|
NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys)
|
rs747769504
|
0.00004
|
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)
|
rs375079576
|
0.00004
|
NM_004082.5(DCTN1):c.3353A>T (p.Gln1118Leu)
|
rs1357089479
|
0.00004
|
NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His)
|
rs980920477
|
0.00004
|
NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val)
|
rs775442446
|
0.00004
|
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys)
|
rs759373031
|
0.00004
|
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val)
|
rs1026036256
|
0.00004
|
NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser)
|
rs960727301
|
0.00004
|
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)
|
rs371723224
|
0.00004
|
NM_004082.5(DCTN1):c.824G>A (p.Arg275His)
|
rs375266113
|
0.00004
|
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu)
|
rs774643393
|
0.00004
|
NM_004738.5(VAPB):c.58+5G>A
|
rs753611165
|
0.00004
|
NM_004960.4(FUS):c.484A>C (p.Asn162His)
|
rs200264565
|
0.00004
|
NM_004960.4(FUS):c.676G>A (p.Gly226Ser)
|
rs758970940
|
0.00004
|
NM_004960.4(FUS):c.788A>G (p.Asn263Ser)
|
rs144917373
|
0.00004
|
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe)
|
rs146118253
|
0.00004
|
NM_007126.5(VCP):c.1242G>A (p.Leu414=)
|
rs375262833
|
0.00004
|
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)
|
rs80356742
|
0.00004
|
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val)
|
rs755655622
|
0.00004
|
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)
|
rs748061846
|
0.00004
|
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)
|
rs779715292
|
0.00004
|
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr)
|
rs199905735
|
0.00004
|
NM_013254.4(TBK1):c.1792A>G (p.Met598Val)
|
rs899858451
|
0.00004
|
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys)
|
rs753009660
|
0.00004
|
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)
|
rs374277596
|
0.00004
|
NM_014043.4(CHMP2B):c.321+3A>G
|
rs989392144
|
0.00004
|
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)
|
rs63750944
|
0.00004
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
NM_018834.6(MATR3):c.1778+5T>C
|
rs377212154
|
0.00004
|
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)
|
rs765603068
|
0.00004
|
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
|
rs774070119
|
0.00004
|
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)
|
rs374819399
|
0.00004
|
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser)
|
rs371437007
|
0.00004
|
NM_213720.3(CHCHD10):c.42-2A>G
|
rs1354578196
|
0.00004
|
NM_001008212.2(OPTN):c.1533-3C>T
|
rs373981784
|
0.00003
|
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln)
|
rs550042475
|
0.00003
|
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)
|
rs202044898
|
0.00003
|
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu)
|
rs780122817
|
0.00003
|
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys)
|
rs540943401
|
0.00003
|
NM_003900.5(SQSTM1):c.1166-5G>A
|
rs765613974
|
0.00003
|
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)
|
rs759646319
|
0.00003
|
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu)
|
rs761423892
|
0.00003
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)
|
rs781478225
|
0.00003
|
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)
|
rs774986849
|
0.00003
|
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys)
|
rs138928957
|
0.00003
|
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln)
|
rs142318791
|
0.00003
|
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln)
|
rs759306485
|
0.00003
|
NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln)
|
rs763378572
|
0.00003
|
NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys)
|
rs150746209
|
0.00003
|
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)
|
rs778201974
|
0.00003
|
NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg)
|
rs751782015
|
0.00003
|
NM_004082.5(DCTN1):c.33+3A>G
|
rs1397714640
|
0.00003
|
NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys)
|
rs374419252
|
0.00003
|
NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala)
|
rs757510484
|
0.00003
|
NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)
|
rs969899022
|
0.00003
|
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)
|
rs538932463
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr)
|
rs771966365
|
0.00003
|
NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala)
|
rs371437767
|
0.00003
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg)
|
rs770153273
|
0.00003
|
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)
|
rs756611519
|
0.00003
|
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu)
|
rs1456089445
|
0.00003
|
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)
|
rs750394268
|
0.00003
|
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser)
|
rs201533156
|
0.00003
|
NM_004960.4(FUS):c.452C>T (p.Pro151Leu)
|
rs144342946
|
0.00003
|
NM_004960.4(FUS):c.673G>A (p.Gly225Ser)
|
rs551577399
|
0.00003
|
NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val)
|
rs778074369
|
0.00003
|
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro)
|
rs781091660
|
0.00003
|
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val)
|
rs372101503
|
0.00003
|
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp)
|
rs777843655
|
0.00003
|
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)
|
rs80356718
|
0.00003
|
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys)
|
rs780192375
|
0.00003
|
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr)
|
rs755069538
|
0.00003
|
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala)
|
rs765585935
|
0.00003
|
NM_013254.4(TBK1):c.40A>G (p.Ile14Val)
|
rs781325780
|
0.00003
|
NM_013254.4(TBK1):c.454G>C (p.Val152Leu)
|
rs202011771
|
0.00003
|
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile)
|
rs200758840
|
0.00003
|
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly)
|
rs781734842
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
0.00003
|
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)
|
rs750375963
|
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.379C>T (p.Arg127Cys)
|
rs768516057
|
0.00003
|
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu)
|
rs1438034155
|
0.00003
|
NM_000454.5(SOD1):c.149del (p.Glu50fs)
|
rs752237082
|
0.00002
|
NM_000454.5(SOD1):c.448A>G (p.Ile150Val)
|
rs1169917994
|
0.00002
|
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr)
|
rs747094021
|
0.00002
|
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr)
|
rs768591421
|
0.00002
|
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)
|
rs900961302
|
0.00002
|
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)
|
rs757107215
|
0.00002
|
NM_001008212.2(OPTN):c.287G>A (p.Arg96His)
|
rs184561087
|
0.00002
|
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val)
|
rs764364218
|
0.00002
|
NM_001008212.2(OPTN):c.626+5del
|
rs776938424
|
0.00002
|
NM_001008212.2(OPTN):c.882+3G>A
|
rs761196996
|
0.00002
|
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu)
|
rs772889843
|
0.00002
|
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val)
|
rs772122047
|
0.00002
|
NM_003900.5(SQSTM1):c.1166-1G>A
|
rs529512338
|
0.00002
|
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp)
|
rs539942101
|
0.00002
|
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)
|
rs779786150
|
0.00002
|
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)
|
rs748555662
|
0.00002
|
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)
|
rs1302810798
|
0.00002
|
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=)
|
rs1449269769
|
0.00002
|
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe)
|
rs763040103
|
0.00002
|
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met)
|
rs181263868
|
0.00002
|
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val)
|
rs755702835
|
0.00002
|
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg)
|
rs748170760
|
0.00002
|
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys)
|
rs548787835
|
0.00002
|
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys)
|
rs750256905
|
0.00002
|
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp)
|
rs758625124
|
0.00002
|
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)
|
rs368010261
|
0.00002
|
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)
|
rs769873457
|
0.00002
|
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)
|
rs769297000
|
0.00002
|
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro)
|
rs745853858
|
0.00002
|
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser)
|
rs1194274800
|
0.00002
|
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly)
|
rs148559402
|
0.00002
|
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu)
|
rs376459756
|
0.00002
|
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr)
|
rs1367793899
|
0.00002
|
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr)
|
rs777431896
|
0.00002
|
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu)
|
rs747589104
|
0.00002
|
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg)
|
rs1299296008
|
0.00002
|
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)
|
rs150368544
|
0.00002
|
NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr)
|
rs922032527
|
0.00002
|
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu)
|
rs773897036
|
0.00002
|
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys)
|
rs756634587
|
0.00002
|
NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg)
|
rs566433112
|
0.00002
|
NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala)
|
rs370192633
|
0.00002
|
NM_004082.5(DCTN1):c.2006G>A (p.Arg669His)
|
rs140523637
|
0.00002
|
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu)
|
rs751069902
|
0.00002
|
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile)
|
rs753618444
|
0.00002
|
NM_004082.5(DCTN1):c.2303G>A (p.Arg768His)
|
rs368869853
|
0.00002
|
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys)
|
rs771231109
|
0.00002
|
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met)
|
rs766585070
|
0.00002
|
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)
|
rs771075973
|
0.00002
|
NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala)
|
rs753405772
|
0.00002
|
NM_004082.5(DCTN1):c.3107G>A (p.Arg1036His)
|
rs762382952
|
0.00002
|
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp)
|
rs573012389
|
0.00002
|
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val)
|
rs757034536
|
0.00002
|
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)
|
rs121909345
|
0.00002
|
NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met)
|
rs376549770
|
0.00002
|
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu)
|
rs975026607
|
0.00002
|
NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln)
|
rs755013572
|
0.00002
|
NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His)
|
rs560344779
|
0.00002
|
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln)
|
rs753892865
|
0.00002
|
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu)
|
rs763427780
|
0.00002
|
NM_004738.5(VAPB):c.199A>G (p.Ile67Val)
|
rs772975721
|
0.00002
|
NM_004960.4(FUS):c.1204_1206del (p.Ser402del)
|
rs781120756
|
0.00002
|
NM_004960.4(FUS):c.238G>A (p.Gly80Ser)
|
rs776474571
|
0.00002
|
NM_004960.4(FUS):c.317C>T (p.Pro106Leu)
|
rs374191107
|
0.00002
|
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys)
|
rs145013063
|
0.00002
|
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg)
|
rs990147591
|
0.00002
|
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp)
|
rs780073328
|
0.00002
|
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln)
|
rs192644838
|
0.00002
|
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp)
|
rs532632647
|
0.00002
|
NM_007126.5(VCP):c.233C>G (p.Ser78Cys)
|
rs1252437282
|
0.00002
|
NM_007126.5(VCP):c.237T>A (p.Asp79Glu)
|
rs746810092
|
0.00002
|
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu)
|
rs1329151473
|
0.00002
|
NM_007126.5(VCP):c.811+5G>C
|
rs1356010891
|
0.00002
|
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu)
|
rs748571947
|
0.00002
|
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile)
|
rs1433610854
|
0.00002
|
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys)
|
rs772820487
|
0.00002
|
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg)
|
rs375610142
|
0.00002
|
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys)
|
rs1366668789
|
0.00002
|
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly)
|
rs746971642
|
0.00002
|
NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu)
|
rs756653207
|
0.00002
|
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg)
|
rs202132872
|
0.00002
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala)
|
rs748098389
|
0.00002
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
0.00002
|
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr)
|
rs1314919388
|
0.00002
|
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro)
|
rs772562504
|
0.00002
|
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)
|
rs774158046
|
0.00002
|
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr)
|
rs749235364
|
0.00002
|
NM_018834.6(MATR3):c.620G>A (p.Arg207His)
|
rs749335257
|
0.00002
|
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala)
|
rs1287389347
|
0.00002
|
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro)
|
rs889489701
|
0.00002
|
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu)
|
rs766426370
|
0.00002
|
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr)
|
rs567432143
|
0.00001
|
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)
|
rs751226367
|
0.00001
|
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly)
|
rs956159636
|
0.00001
|
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
|
rs774245711
|
0.00001
|
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn)
|
rs1487584331
|
0.00001
|
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)
|
rs756622651
|
0.00001
|
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)
|
rs758942502
|
0.00001
|
NM_001008212.2(OPTN):c.481G>A (p.Val161Met)
|
rs776058639
|
0.00001
|
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)
|
rs199700857
|
0.00001
|
NM_001008212.2(OPTN):c.626+4T>C
|
rs1564360523
|
0.00001
|
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu)
|
rs1189662370
|
0.00001
|
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)
|
rs775448931
|
0.00001
|
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
|
rs143727251
|
0.00001
|
NM_001008212.2(OPTN):c.882+5G>C
|
rs766398912
|
0.00001
|
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe)
|
rs1833407652
|
0.00001
|
NM_001008212.2(OPTN):c.950A>G (p.His317Arg)
|
rs747365111
|
0.00001
|
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala)
|
rs1250501488
|
0.00001
|
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala)
|
rs1355424687
|
0.00001
|
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs)
|
rs781417955
|
0.00001
|
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys)
|
rs535932454
|
0.00001
|
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)
|
rs776303544
|
0.00001
|
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val)
|
rs1447276382
|
0.00001
|
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
|
rs776749939
|
0.00001
|
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys)
|
rs1471403162
|
0.00001
|
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)
|
rs752910741
|
0.00001
|
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val)
|
rs1241285995
|
0.00001
|
NM_003900.5(SQSTM1):c.205+6C>T
|
rs1286712928
|
0.00001
|
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys)
|
rs368853286
|
0.00001
|
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro)
|
rs1208284061
|
0.00001
|
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His)
|
rs766411872
|
0.00001
|
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys)
|
rs1295820640
|
0.00001
|
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn)
|
rs1181188986
|
0.00001
|
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly)
|
rs752438818
|
0.00001
|
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys)
|
rs750784335
|
0.00001
|
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln)
|
rs778554903
|
0.00001
|
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp)
|
rs771903158
|
0.00001
|
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val)
|
rs1209470881
|
0.00001
|
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)
|
rs753212399
|
0.00001
|
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)
|
rs1309887153
|
0.00001
|
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg)
|
rs374417389
|
0.00001
|
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp)
|
rs1442832120
|
0.00001
|
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly)
|
rs377198490
|
0.00001
|
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)
|
rs200731802
|
0.00001
|
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)
|
rs778537429
|
0.00001
|
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)
|
rs867275286
|
0.00001
|
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu)
|
rs1397353855
|
0.00001
|
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu)
|
rs757778292
|
0.00001
|
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn)
|
rs1325278483
|
0.00001
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
0.00001
|
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)
|
rs778679611
|
0.00001
|
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr)
|
rs745788957
|
0.00001
|
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg)
|
rs763179729
|
0.00001
|
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)
|
rs753685955
|
0.00001
|
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)
|
rs541356917
|
0.00001
|
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg)
|
rs1460912506
|
0.00001
|
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser)
|
rs1225559170
|
0.00001
|
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)
|
rs1156716975
|
0.00001
|
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)
|
rs755411592
|
0.00001
|
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser)
|
rs1674769234
|
0.00001
|
NM_004082.5(DCTN1):c.1105C>T (p.Arg369Cys)
|
rs149499018
|
0.00001
|
NM_004082.5(DCTN1):c.1128-3C>G
|
rs914567815
|
0.00001
|
NM_004082.5(DCTN1):c.1171C>A (p.Leu391Ile)
|
rs1282851211
|
0.00001
|
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys)
|
rs1040712616
|
0.00001
|
NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg)
|
rs745458066
|
0.00001
|
NM_004082.5(DCTN1):c.1261A>G (p.Ser421Gly)
|
rs1417901024
|
0.00001
|
NM_004082.5(DCTN1):c.1288-6A>G
|
rs1236101222
|
0.00001
|
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His)
|
rs763277715
|
0.00001
|
NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser)
|
rs756081164
|
0.00001
|
NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp)
|
rs759801622
|
0.00001
|
NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val)
|
rs761331951
|
0.00001
|
NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp)
|
rs184840910
|
0.00001
|
NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys)
|
rs1327106238
|
0.00001
|
NM_004082.5(DCTN1):c.1505G>A (p.Arg502His)
|
rs780066070
|
0.00001
|
NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met)
|
rs967117932
|
0.00001
|
NM_004082.5(DCTN1):c.1594C>G (p.Arg532Gly)
|
rs563630664
|
0.00001
|
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg)
|
rs4994503
|
0.00001
|
NM_004082.5(DCTN1):c.1774A>G (p.Met592Val)
|
rs778331682
|
0.00001
|
NM_004082.5(DCTN1):c.177C>T (p.Gly59=)
|
rs72466484
|
0.00001
|
NM_004082.5(DCTN1):c.1780G>C (p.Asp594His)
|
rs1200525088
|
0.00001
|
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn)
|
rs1243051229
|
0.00001
|
NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln)
|
rs779723221
|
0.00001
|
NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile)
|
rs375778151
|
0.00001
|
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser)
|
rs372808221
|
0.00001
|
NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp)
|
rs764568642
|
0.00001
|
NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp)
|
rs1674555206
|
0.00001
|
NM_004082.5(DCTN1):c.2083C>T (p.His695Tyr)
|
rs756952260
|
0.00001
|
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu)
|
rs1309359471
|
0.00001
|
NM_004082.5(DCTN1):c.2253+4A>T
|
rs1674495774
|
0.00001
|
NM_004082.5(DCTN1):c.2296C>T (p.Arg766Trp)
|
rs766338463
|
0.00001
|
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln)
|
rs200611961
|
0.00001
|
NM_004082.5(DCTN1):c.2315A>G (p.Gln772Arg)
|
rs1648520142
|
0.00001
|
NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser)
|
rs1266701728
|
0.00001
|
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly)
|
rs752889408
|
0.00001
|
NM_004082.5(DCTN1):c.2384G>A (p.Arg795His)
|
rs377530504
|
0.00001
|
NM_004082.5(DCTN1):c.2396A>G (p.Lys799Arg)
|
rs773793200
|
0.00001
|
NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln)
|
rs1443384895
|
0.00001
|
NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met)
|
rs1313684238
|
0.00001
|
NM_004082.5(DCTN1):c.2467G>A (p.Val823Ile)
|
rs753992154
|
0.00001
|
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr)
|
rs769512188
|
0.00001
|
NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro)
|
rs777542005
|
0.00001
|
NM_004082.5(DCTN1):c.258C>T (p.Gly86=)
|
rs140054458
|
0.00001
|
NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr)
|
rs72466488
|
0.00001
|
NM_004082.5(DCTN1):c.2622C>T (p.Ser874=)
|
rs1367060889
|
0.00001
|
NM_004082.5(DCTN1):c.2639C>T (p.Thr880Ile)
|
rs758789274
|
0.00001
|
NM_004082.5(DCTN1):c.2660A>C (p.Glu887Ala)
|
rs1166896176
|
0.00001
|
NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys)
|
rs767379191
|
0.00001
|
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val)
|
rs545910781
|
0.00001
|
NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp)
|
rs758168607
|
0.00001
|
NM_004082.5(DCTN1):c.2795G>A (p.Arg932His)
|
rs767725965
|
0.00001
|
NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys)
|
rs780644304
|
0.00001
|
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met)
|
rs754893423
|
0.00001
|
NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp)
|
rs756183069
|
0.00001
|
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His)
|
rs369129714
|
0.00001
|
NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu)
|
rs746148076
|
0.00001
|
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp)
|
rs764918482
|
0.00001
|
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val)
|
rs759276455
|
0.00001
|
NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter)
|
rs376996779
|
0.00001
|
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met)
|
rs764028925
|
0.00001
|
NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser)
|
rs201918007
|
0.00001
|
NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu)
|
rs1274754432
|
0.00001
|
NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala)
|
rs749776779
|
0.00001
|
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln)
|
rs749196418
|
0.00001
|
NM_004082.5(DCTN1):c.3322C>G (p.Gln1108Glu)
|
rs374567374
|
0.00001
|
NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr)
|
rs1191490257
|
0.00001
|
NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val)
|
rs534309303
|
0.00001
|
NM_004082.5(DCTN1):c.3448C>T (p.Arg1150Cys)
|
rs1194029274
|
0.00001
|
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His)
|
rs771822061
|
0.00001
|
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile)
|
rs373550911
|
0.00001
|
NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly)
|
rs1180149480
|
0.00001
|
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His)
|
rs554008879
|
0.00001
|
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)
|
rs778307537
|
0.00001
|
NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr)
|
rs748860016
|
0.00001
|
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala)
|
rs745657856
|
0.00001
|
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)
|
rs752784218
|
0.00001
|
NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr)
|
rs773727370
|
0.00001
|
NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser)
|
rs772655253
|
0.00001
|
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp)
|
rs768025820
|
0.00001
|
NM_004082.5(DCTN1):c.414+6G>A
|
rs767853891
|
0.00001
|
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter)
|
rs781290307
|
0.00001
|
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser)
|
rs72466482
|
0.00001
|
NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln)
|
rs1359633006
|
0.00001
|
NM_004082.5(DCTN1):c.458C>T (p.Thr153Met)
|
rs1052858105
|
0.00001
|
NM_004082.5(DCTN1):c.461G>A (p.Arg154His)
|
rs1398619239
|
0.00001
|
NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu)
|
rs1064797035
|
0.00001
|
NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu)
|
rs916359967
|
0.00001
|
NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu)
|
rs765192491
|
0.00001
|
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu)
|
rs1461654392
|
0.00001
|
NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln)
|
rs1411382364
|
0.00001
|
NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn)
|
rs539287431
|
0.00001
|
NM_004082.5(DCTN1):c.821G>A (p.Arg274Gln)
|
rs1379544377
|
0.00001
|
NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys)
|
rs775294408
|
0.00001
|
NM_004082.5(DCTN1):c.843+5G>T
|
rs757238618
|
0.00001
|
NM_004082.5(DCTN1):c.844-5C>G
|
rs1435999777
|
0.00001
|
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp)
|
rs1042083899
|
0.00001
|
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)
|
rs751177222
|
0.00001
|
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly)
|
rs748371538
|
0.00001
|
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys)
|
rs1475473253
|
0.00001
|
NM_004738.5(VAPB):c.315A>G (p.Val105=)
|
rs757744162
|
0.00001
|
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)
|
rs777316448
|
0.00001
|
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg)
|
rs773800478
|
0.00001
|
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys)
|
rs772254840
|
0.00001
|
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys)
|
rs1989149258
|
0.00001
|
NM_004738.5(VAPB):c.622A>G (p.Ile208Val)
|
rs376121617
|
0.00001
|
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg)
|
rs1989222522
|
0.00001
|
NM_004960.4(FUS):c.*108C>T
|
rs780606789
|
0.00001
|
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys)
|
rs776191869
|
0.00001
|
NM_004960.4(FUS):c.1168+6G>C
|
rs750980752
|
0.00001
|
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu)
|
rs141684472
|
0.00001
|
NM_004960.4(FUS):c.1544G>T (p.Gly515Val)
|
rs1307257028
|
0.00001
|
NM_004960.4(FUS):c.181A>G (p.Ser61Gly)
|
rs1481060391
|
0.00001
|
NM_004960.4(FUS):c.182G>A (p.Ser61Asn)
|
rs777365216
|
0.00001
|
NM_004960.4(FUS):c.265T>A (p.Ser89Thr)
|
rs372638663
|
0.00001
|
NM_004960.4(FUS):c.688G>T (p.Gly230Cys)
|
rs748374535
|
0.00001
|
NM_004960.4(FUS):c.701G>A (p.Arg234His)
|
rs749434237
|
0.00001
|
NM_005866.4(SIGMAR1):c.*51G>T
|
rs768783740
|
0.00001
|
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser)
|
rs777565671
|
0.00001
|
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu)
|
rs773344340
|
0.00001
|
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val)
|
rs1278952640
|
0.00001
|
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val)
|
rs1241574813
|
0.00001
|
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys)
|
rs778413865
|
0.00001
|
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met)
|
rs745503254
|
0.00001
|
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val)
|
rs202244713
|
0.00001
|
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser)
|
rs1411120179
|
0.00001
|
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile)
|
rs149409262
|
0.00001
|
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn)
|
rs892812356
|
0.00001
|
NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met)
|
rs1396152845
|
0.00001
|
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln)
|
rs541996857
|
0.00001
|
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe)
|
rs754118993
|
0.00001
|
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro)
|
rs1254998914
|
0.00001
|
NM_007126.5(VCP):c.1162A>G (p.Met388Val)
|
rs761895823
|
0.00001
|
NM_007126.5(VCP):c.1211A>C (p.His404Pro)
|
rs1359620830
|
0.00001
|
NM_007126.5(VCP):c.1294C>G (p.Leu432Val)
|
rs771751916
|
0.00001
|
NM_007126.5(VCP):c.130-3C>T
|
rs767838037
|
0.00001
|
NM_007126.5(VCP):c.1327A>C (p.Asn443His)
|
rs770514866
|
0.00001
|
NM_007126.5(VCP):c.1402G>A (p.Val468Met)
|
rs779392075
|
0.00001
|
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys)
|
rs752765916
|
0.00001
|
NM_007126.5(VCP):c.1768A>G (p.Ile590Val)
|
rs1255802734
|
0.00001
|
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr)
|
rs1284380722
|
0.00001
|
NM_007126.5(VCP):c.1985G>A (p.Arg662His)
|
rs762185724
|
0.00001
|
NM_007126.5(VCP):c.1996G>A (p.Val666Ile)
|
rs754268174
|
0.00001
|
NM_007126.5(VCP):c.2126G>A (p.Arg709Gln)
|
rs746617777
|
0.00001
|
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln)
|
rs779670266
|
0.00001
|
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys)
|
rs758602597
|
0.00001
|
NM_007126.5(VCP):c.303-3C>T
|
rs1183711292
|
0.00001
|
NM_007126.5(VCP):c.331G>A (p.Gly111Ser)
|
rs752038734
|
0.00001
|
NM_007126.5(VCP):c.335A>G (p.Lys112Arg)
|
rs766787045
|
0.00001
|
NM_007126.5(VCP):c.41C>T (p.Thr14Ile)
|
rs1219381953
|
0.00001
|
NM_007126.5(VCP):c.451A>G (p.Ile151Val)
|
rs367881889
|
0.00001
|
NM_007126.5(VCP):c.62A>G (p.Asn21Ser)
|
rs1409460709
|
0.00001
|
NM_007126.5(VCP):c.697A>G (p.Ile233Val)
|
rs750335399
|
0.00001
|
NM_007126.5(VCP):c.73C>T (p.Arg25Trp)
|
rs920962883
|
0.00001
|
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val)
|
rs1162800752
|
0.00001
|
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)
|
rs80356741
|
0.00001
|
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser)
|
rs142913423
|
0.00001
|
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys)
|
rs956150244
|
0.00001
|
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser)
|
rs1419402299
|
0.00001
|
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr)
|
rs763874949
|
0.00001
|
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)
|
rs753595352
|
0.00001
|
NM_013254.4(TBK1):c.1443A>T (p.Val481=)
|
rs1396706988
|
0.00001
|
NM_013254.4(TBK1):c.1505A>G (p.His502Arg)
|
rs1206925876
|
0.00001
|
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val)
|
rs768023625
|
0.00001
|
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala)
|
rs371955059
|
0.00001
|
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln)
|
rs1337698475
|
0.00001
|
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala)
|
rs41292021
|
0.00001
|
NM_013254.4(TBK1):c.51A>G (p.Gln17=)
|
rs769584803
|
0.00001
|
NM_013254.4(TBK1):c.683G>A (p.Arg228His)
|
rs748622208
|
0.00001
|
NM_013254.4(TBK1):c.734C>T (p.Ala245Val)
|
rs751890932
|
0.00001
|
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)
|
rs905184241
|
0.00001
|
NM_013254.4(TBK1):c.962C>T (p.Ala321Val)
|
rs762705031
|
0.00001
|
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg)
|
rs1243726473
|
0.00001
|
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp)
|
rs1343347647
|
0.00001
|
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr)
|
rs1293533801
|
0.00001
|
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln)
|
rs1569254665
|
0.00001
|
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys)
|
rs1330837640
|
0.00001
|
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro)
|
rs1459753673
|
0.00001
|
NM_014043.4(CHMP2B):c.126+4A>G
|
rs369912013
|
0.00001
|
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)
|
rs143800051
|
0.00001
|
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)
|
rs745754634
|
0.00001
|
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)
|
rs553846327
|
0.00001
|
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)
|
rs1295215037
|
0.00001
|
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)
|
rs369257752
|
0.00001
|
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala)
|
rs999767103
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
|
rs1032816797
|
0.00001
|
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)
|
rs957434595
|
0.00001
|
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu)
|
rs1015257691
|
0.00001
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
NM_015046.7(SETX):c.2749A>C (p.Met917Leu)
|
rs761943404
|
0.00001
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)
|
rs1846998334
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)
|
rs1297541939
|
0.00001
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)
|
rs146407699
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)
|
rs778111855
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
|
rs772466321
|
0.00001
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
0.00001
|
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu)
|
rs1362908917
|
0.00001
|
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)
|
rs1466879487
|
0.00001
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
|
rs758411198
|
0.00001
|
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)
|
rs947336270
|
0.00001
|
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile)
|
rs763771426
|
0.00001
|
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)
|
rs1589671916
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.598A>G (p.Ile200Val)
|
rs1368588434
|
0.00001
|
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)
|
rs755531730
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)
|
rs1843269972
|
0.00001
|
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)
|
rs781671592
|
0.00001
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)
|
rs1842557730
|
0.00001
|
NM_015046.7(SETX):c.823G>A (p.Glu275Lys)
|
rs901741485
|
0.00001
|
NM_015046.7(SETX):c.865G>A (p.Ala289Thr)
|
rs775579797
|
0.00001
|
NM_015046.7(SETX):c.980A>T (p.Glu327Val)
|
rs1315992594
|
0.00001
|
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
|
rs948428305
|
0.00001
|
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser)
|
rs1755320528
|
0.00001
|
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys)
|
rs1291862870
|
0.00001
|
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr)
|
rs779612686
|
0.00001
|
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala)
|
rs781213918
|
0.00001
|
NM_018834.6(MATR3):c.1435-10T>C
|
rs772340385
|
0.00001
|
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
|
rs777025841
|
0.00001
|
NM_018834.6(MATR3):c.1636A>G (p.Met546Val)
|
rs1412628714
|
0.00001
|
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile)
|
rs748592981
|
0.00001
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr)
|
rs1488614478
|
0.00001
|
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)
|
rs772231433
|
0.00001
|
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)
|
rs1186297721
|
0.00001
|
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr)
|
rs1176347654
|
0.00001
|
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val)
|
rs1261252930
|
0.00001
|
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu)
|
rs1228960452
|
0.00001
|
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu)
|
rs759928245
|
0.00001
|
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)
|
rs764645698
|
0.00001
|
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser)
|
rs1468138513
|
0.00001
|
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly)
|
rs538917496
|
0.00001
|
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
|
rs1452954379
|
0.00001
|
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)
|
rs765284792
|
0.00001
|
NM_018834.6(MATR3):c.2372-3dup
|
rs1561945483
|
0.00001
|
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr)
|
rs912142064
|
0.00001
|
NM_018834.6(MATR3):c.256A>G (p.Ile86Val)
|
rs201277902
|
0.00001
|
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys)
|
rs1327023414
|
0.00001
|
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser)
|
rs745440760
|
0.00001
|
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly)
|
rs1255035245
|
0.00001
|
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr)
|
rs1433371817
|
0.00001
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu)
|
rs761842979
|
0.00001
|
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)
|
rs200871699
|
0.00001
|
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala)
|
rs774478774
|
0.00001
|
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn)
|
rs762374587
|
0.00001
|
NM_018834.6(MATR3):c.898G>A (p.Val300Ile)
|
rs1307308858
|
0.00001
|
NM_018834.6(MATR3):c.960G>T (p.Gln320His)
|
rs773617455
|
0.00001
|
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser)
|
rs1259379217
|
0.00001
|
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg)
|
rs945463572
|
0.00001
|
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly)
|
rs751472303
|
0.00001
|
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)
|
rs542541060
|
0.00001
|
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu)
|
rs780959799
|
0.00001
|
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe)
|
rs1358742335
|
0.00001
|
NM_213720.3(CHCHD10):c.408T>C (p.His136=)
|
rs113677828
|
0.00001
|
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)
|
rs1197865297
|
0.00001
|
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser)
|
rs927168789
|
0.00001
|
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val)
|
rs1244878740
|
0.00001
|
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser)
|
rs1297070374
|
0.00001
|
NC_000002.11:g.(?_74588271)_(74607174_?)del
|
|
|
NC_000002.11:g.(?_74588626)_(74607164_?)dup
|
|
|
NC_000002.11:g.(?_74597072)_(74607164_?)dup
|
|
|
NC_000002.12:g.74371167CCT[3]
|
|
|
NC_000003.11:g.(?_87276673)_(87325612_?)del
|
|
|
NC_000005.10:g.(?_179836426)_(179836603_?)del
|
|
|
NC_000005.9:g.(?_138608441)_(138668366_?)del
|
|
|
NC_000005.9:g.(?_138643105)_(138644036_?)dup
|
|
|
NC_000005.9:g.(?_138643105)_(138665084_?)dup
|
|
|
NC_000005.9:g.(?_178413111)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_178770758)_(179263603_?)dup
|
|
|
NC_000005.9:g.(?_179260012)_(179260802_?)del
|
|
|
NC_000005.9:g.(?_179260567)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_179263416)_(179263593_?)del
|
|
|
NC_000009.11:g.(?_135156834)_(135156981_?)del
|
|
|
NC_000009.11:g.(?_135209975)_(135210134_?)dup
|
|
|
NC_000009.11:g.(?_32453279)_(35068379_?)dup
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
NC_000009.11:g.(?_34458984)_(36277059_?)dup
|
|
|
NC_000009.11:g.(?_34458994)_(35072710_?)dup
|
|
|
NC_000009.12:g.(?_132264229)_(132349438_?)dup
|
|
|
NC_000010.10:g.(?_13151123)_(13154655_?)dup
|
|
|
NC_000010.10:g.(?_13158247)_(13169923_?)dup
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)dup
|
|
|
NC_000010.11:g.(?_13118878)_(13119050_?)del
|
|
|
NC_000016.10:g.(?_31182388)_(31194881_?)dup
|
|
|
NC_000016.10:g.31184376GAGGTG[6]
|
|
|
NC_000020.10:g.(?_57009638)_(57019291_?)dup
|
|
|
NC_000020.11:g.(?_58389109)_(58389527_?)del
|
|
|
NC_000021.8:g.(?_32439271)_(39212984_?)dup
|
|
|
NC_000022.10:g.(?_24108011)_(24110169_?)dup
|
|
|
NC_000022.10:g.(?_24108174)_(24110081_?)dup
|
|
|
NC_000022.10:g.(?_24108194)_(24108482_?)del
|
|
|
NC_000022.10:g.(?_24109541)_(24110061_?)del
|
|
|
NC_000022.10:g.(?_24109541)_(24110081_?)del
|
|
|
NC_000022.11:g.(?_23765824)_(23767603_?)del
|
|
|
NC_000022.11:g.(?_23767364)_(23767982_?)del
|
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)
|
rs1554081968
|
|
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
|
|
|
NM_000344.4(SMN1):c.855_858del (p.Arg288fs)
|
rs1475940018
|
|
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
|
|
|
NM_000344.4(SMN1):c.862A>G (p.Arg288Gly)
|
|
|
NM_000344.4(SMN1):c.862A>T (p.Arg288Trp)
|
|
|
NM_000344.4(SMN1):c.885A>G (p.Ter295=)
|
|
|
NM_000454.5(SOD1):c.*273_*276del
|
rs906761540
|
|
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe)
|
rs1057524474
|
|
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)
|
rs1568809149
|
|
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup)
|
rs2123431926
|
|
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys)
|
rs1568809178
|
|
NM_000454.5(SOD1):c.16G>A (p.Val6Met)
|
|
|
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
|
|
|
NM_000454.5(SOD1):c.17T>C (p.Val6Ala)
|
rs2123427988
|
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NM_000454.5(SOD1):c.208A>G (p.Arg70Gly)
|
rs1457291290
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NM_000454.5(SOD1):c.216C>G (p.His72Gln)
|
rs368042695
|
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NM_000454.5(SOD1):c.220G>A (p.Gly74Arg)
|
rs1555836720
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NM_000454.5(SOD1):c.240-3T>C
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NM_000454.5(SOD1):c.25C>G (p.Leu9Val)
|
rs1568807333
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NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)
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NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
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NM_000454.5(SOD1):c.287C>T (p.Ala96Val)
|
rs1568810690
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NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
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NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del)
|
rs2123435528
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NM_000454.5(SOD1):c.325G>C (p.Gly109Arg)
|
rs1568810758
|
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NM_000454.5(SOD1):c.326_328del (p.Gly109del)
|
rs2123435554
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NM_000454.5(SOD1):c.357+2dup
|
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NM_000454.5(SOD1):c.376G>C (p.Asp126His)
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NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
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NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)
|
rs1568811423
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NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
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NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
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NM_000454.5(SOD1):c.416G>A (p.Gly139Glu)
|
rs1568811464
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NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
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NM_000454.5(SOD1):c.422C>G (p.Ala141Gly)
|
rs1555836937
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NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
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NM_000454.5(SOD1):c.455T>G (p.Ile152Ser)
|
rs121912449
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NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)
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NM_000454.5(SOD1):c.56T>C (p.Ile19Thr)
|
rs1601153438
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NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)
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NM_000454.5(SOD1):c.72+20C>T
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NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)
|
rs2049569360
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NM_000454.5(SOD1):c.93G>C (p.Lys31Asn)
|
rs2123431867
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NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser)
|
rs1248850820
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NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
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NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
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NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
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NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
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NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
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NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
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NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
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NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
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NM_001008212.2(OPTN):c.1242+6C>T
|
rs906152658
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NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
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NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
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NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
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NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
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NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg)
|
rs1045159479
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NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
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NM_001008212.2(OPTN):c.1402-3C>G
|
rs1588452749
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NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln)
|
rs2131528196
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NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
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NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
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NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu)
|
rs1363384405
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NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
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NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)
|
rs1564354765
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NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
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NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
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NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
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NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
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NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
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NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer)
|
rs1446908199
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NM_001008212.2(OPTN):c.1613-1G>A
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NM_001008212.2(OPTN):c.1613-3C>T
|
rs2131534998
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NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)
|
rs967459877
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NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
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NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu)
|
rs2131535039
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NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
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NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp)
|
rs767360238
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NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
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NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
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NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
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NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
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NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
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NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
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NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
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NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter)
|
rs1275810602
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NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
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NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr)
|
rs1564370960
|
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NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
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NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
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NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
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NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
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NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
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NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
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NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
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NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
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NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
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NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
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NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
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NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
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NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)
|
rs369071606
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NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
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NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)
|
rs1269604352
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NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)
|
rs372714385
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NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
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NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
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NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
|
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NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
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NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)
|
rs113811959
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NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
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NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
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NM_001008212.2(OPTN):c.553-6_553-5delinsGT
|
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NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
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NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
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NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
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NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)
|
rs1833208430
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NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
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NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
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NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)
|
rs1450047435
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NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
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NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
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NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
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NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
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NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)
|
rs760339006
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NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
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NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
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NM_001008212.2(OPTN):c.779+8A>G
|
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NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
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NM_001008212.2(OPTN):c.780-3C>T
|
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NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
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NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln)
|
rs1833371043
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NM_001008212.2(OPTN):c.882+5G>A
|
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NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys)
|
rs1833407271
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NM_001008212.2(OPTN):c.949C>G (p.His317Asp)
|
rs1387105883
|
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NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
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NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
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NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
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NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly)
|
rs1564364468
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NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=)
|
rs765964997
|
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NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
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|
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
|
|
|
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)
|
rs1554091442
|
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NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
|
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|
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln)
|
rs1554091448
|
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NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
|
|
|
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr)
|
rs774512680
|
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NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
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NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
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NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln)
|
rs765610848
|
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NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
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NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
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|
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs)
|
rs1758356210
|
|
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
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NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
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|
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu)
|
rs2113512735
|
|
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
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|
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
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|
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val)
|
rs2113512757
|
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NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
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NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
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NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
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NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys)
|
rs1582022482
|
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NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
|
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NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
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|
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe)
|
rs2113512860
|
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NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
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NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
|
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|
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)
|
rs1298281008
|
|
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
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NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
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|
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
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|
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
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|
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg)
|
rs2113513106
|
|
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
|
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|
NM_003900.5(SQSTM1):c.1166-2A>G
|
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|
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)
|
rs2113524011
|
|
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)
|
rs2113524028
|
|
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
|
|
|
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)
|
rs1471635040
|
|
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
|
|
|
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
|
|
|
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
|
|
|
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
|
|
|
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)
|
rs1377640860
|
|
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
|
|
|
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
|
|
|
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
|
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|
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
|
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|
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
|
|
|
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)
|
rs2113524491
|
|
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
|
|
|
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)
|
rs770118706
|
|
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His)
|
rs2113524577
|
|
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
|
|
|
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
|
|
|
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
|
|
|
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
|
|
|
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
|
|
|
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
|
|
|
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
|
|
|
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)
|
rs778461636
|
|
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del)
|
rs2113480023
|
|
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser)
|
rs1411304344
|
|
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
|
|
|
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
|
|
|
NM_003900.5(SQSTM1):c.206-9A>G
|
rs2113484953
|
|
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp)
|
rs2113484986
|
|
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
|
|
|
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala)
|
rs1757838607
|
|
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
|
|
|
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
|
|
|
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
|
|
|
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
|
|
|
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
|
|
|
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile)
|
rs1274176534
|
|
NM_003900.5(SQSTM1):c.301+6G>C
|
|
|
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)
|
rs2113487449
|
|
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
|
|
|
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)
|
rs886060503
|
|
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
|
|
|
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
|
|
|
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly)
|
rs1757886934
|
|
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
|
|
|
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
|
|
|
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
|
|
|
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile)
|
rs1562654519
|
|
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val)
|
rs866832054
|
|
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
|
|
|
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
|
|
|
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
|
|
|
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
|
|
|
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)
|
rs1582007866
|
|
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)
|
rs753212399
|
|
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
|
|
|
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
|
|
|
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
|
|
|
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
|
|
|
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
|
|
|
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)
|
rs372480231
|
|
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
|
|
|
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
|
|
|
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
|
|
|
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
|
|
|
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
|
|
|
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
|
|
|
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
|
|
|
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
|
|
|
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)
|
rs773552098
|
|
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
|
|
|
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=)
|
rs35266480
|
|
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln)
|
rs118160361
|
|
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
|
|
|
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
|
|
|
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
|
|
|
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
|
|
|
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
|
|
|
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
|
|
|
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys)
|
rs1229776140
|
|
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
|
|
|
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala)
|
rs1392938040
|
|
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
|
|
|
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
|
|
|
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn)
|
rs1757907176
|
|
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg)
|
rs1562655554
|
|
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
|
|
|
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg)
|
rs373585056
|
|
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
|
|
|
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
|
|
|
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)
|
rs377371202
|
|
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
|
|
|
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
|
|
|
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
|
|
|
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
|
|
|
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr)
|
rs1256909021
|
|
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu)
|
rs1757909856
|
|
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His)
|
rs1303154345
|
|
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
|
|
|
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser)
|
rs1370363543
|
|
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del)
|
rs747274001
|
|
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
|
|
|
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly)
|
rs201263163
|
|
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys)
|
rs201263163
|
|
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
|
|
|
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
|
|
|
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met)
|
rs199663339
|
|
NM_003900.5(SQSTM1):c.674-18T>G
|
rs1317780724
|
|
NM_003900.5(SQSTM1):c.674-8A>G
|
|
|
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
|
|
|
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
|
|
|
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)
|
rs1467107148
|
|
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
|
|
|
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
|
|
|
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
|
|
|
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
|
|
|
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
|
|
|
NM_003900.5(SQSTM1):c.754+5G>A
|
|
|
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr)
|
rs753016349
|
|
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile)
|
rs182522590
|
|
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
|
|
|
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala)
|
rs988411948
|
|
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly)
|
rs988411948
|
|
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met)
|
rs372827450
|
|
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
|
|
|
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
|
|
|
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)
|
rs745853858
|
|
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
|
|
|
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
|
|
|
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)
|
rs202119215
|
|
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly)
|
rs2113510695
|
|
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
|
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr)
|
rs760785371
|
|
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)
|
rs759823891
|
|
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)
|
rs764205744
|
|
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)
|
rs754060027
|
|
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)
|
rs1012113887
|
|
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
|
|
|
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)
|
rs764111892
|
|
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg)
|
rs2113510972
|
|
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
|
|
|
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
|
|
|
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
|
|
|
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met)
|
rs200695664
|
|
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
|
|
|
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
|
|
|
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
|
|
|
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)
|
rs2113511316
|
|
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)
|
rs1436000961
|
|
NM_003900.5(SQSTM1):c.970del
|
rs758377403
|
|
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)
|
rs1358261412
|
|
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
|
|
|
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
|
|
|
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
|
|
|
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
|
|
|
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
|
|
|
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
|
|
|
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
|
|
|
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)
|
rs1185406298
|
|
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
|
rs778047147
|
|
NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala)
|
rs2103659798
|
|
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
|
|
|
NM_004082.5(DCTN1):c.1048+3A>C
|
rs1674767158
|
|
NM_004082.5(DCTN1):c.1048+4A>G
|
rs1309897356
|
|
NM_004082.5(DCTN1):c.1048+6G>A
|
|
|
NM_004082.5(DCTN1):c.1054G>C (p.Asp352His)
|
|
|
NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)
|
|
|
NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)
|
|
|
NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr)
|
rs1034996844
|
|
NM_004082.5(DCTN1):c.1106G>A (p.Arg369His)
|
|
|
NM_004082.5(DCTN1):c.1127+6G>A
|
rs951022782
|
|
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)
|
rs570863800
|
|
NM_004082.5(DCTN1):c.1132C>T (p.Arg378Trp)
|
|
|
NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln)
|
|
|
NM_004082.5(DCTN1):c.1165G>A (p.Val389Met)
|
|
|
NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn)
|
rs1674740605
|
|
NM_004082.5(DCTN1):c.1199A>C (p.Gln400Pro)
|
|
|
NM_004082.5(DCTN1):c.11G>A (p.Ser4Asn)
|
|
|
NM_004082.5(DCTN1):c.1203G>T (p.Glu401Asp)
|
rs2103655781
|
|
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter)
|
rs2103723456
|
|
NM_004082.5(DCTN1):c.1231C>T (p.Arg411Cys)
|
|
|
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
|
|
|
NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu)
|
rs186892779
|
|
NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly)
|
rs1674734372
|
|
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala)
|
rs2103654759
|
|
NM_004082.5(DCTN1):c.1287+5G>A
|
|
|
NM_004082.5(DCTN1):c.1288-10C>G
|
rs72659375
|
|
NM_004082.5(DCTN1):c.1288-1G>A
|
rs2103653438
|
|
NM_004082.5(DCTN1):c.1288-7_1289del
|
rs1674719585
|
|
NM_004082.5(DCTN1):c.1288G>A (p.Val430Met)
|
|
|
NM_004082.5(DCTN1):c.1292A>G (p.Asp431Gly)
|
|
|
NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr)
|
rs1573161529
|
|
NM_004082.5(DCTN1):c.1333G>C (p.Asp445His)
|
|
|
NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)
|
|
|
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys)
|
rs2103652994
|
|
NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys)
|
rs2103652794
|
|
NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly)
|
rs1558941192
|
|
NM_004082.5(DCTN1):c.1393-13T>C
|
|
|
NM_004082.5(DCTN1):c.1396G>A (p.Ala466Thr)
|
|
|
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
|
|
|
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
|
|
|
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
|
|
|
NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile)
|
rs1573179028
|
|
NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys)
|
rs1558940606
|
|
NM_004082.5(DCTN1):c.1436G>T (p.Arg479Leu)
|
|
|
NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met)
|
|
|
NM_004082.5(DCTN1):c.1481C>A (p.Ala494Glu)
|
|
|
NM_004082.5(DCTN1):c.1499A>G (p.Gln500Arg)
|
|
|
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)
|
rs145958900
|
|
NM_004082.5(DCTN1):c.1514C>T (p.Ala505Val)
|
|
|
NM_004082.5(DCTN1):c.1552AAG[1] (p.Lys519del)
|
rs2103645875
|
|
NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser)
|
rs2103723246
|
|
NM_004082.5(DCTN1):c.1562G>A (p.Arg521His)
|
|
|
NM_004082.5(DCTN1):c.1584+2T>C
|
|
|
NM_004082.5(DCTN1):c.1584+5A>G
|
rs1283119090
|
|
NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser)
|
rs367910524
|
|
NM_004082.5(DCTN1):c.1594C>T (p.Arg532Trp)
|
|
|
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu)
|
rs759306485
|
|
NM_004082.5(DCTN1):c.1606A>C (p.Asn536His)
|
rs1553464927
|
|
NM_004082.5(DCTN1):c.1615G>A (p.Glu539Lys)
|
|
|
NM_004082.5(DCTN1):c.1616A>G (p.Glu539Gly)
|
|
|
NM_004082.5(DCTN1):c.1618G>A (p.Ala540Thr)
|
|
|
NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile)
|
|
|
NM_004082.5(DCTN1):c.1636C>T (p.Gln546Ter)
|
|
|
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu)
|
rs2103644049
|
|
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
|
|
|
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
|
|
|
NM_004082.5(DCTN1):c.1684A>T (p.Thr562Ser)
|
|
|
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
|
|
|
NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
|
|
|
NM_004082.5(DCTN1):c.1702-3C>A
|
|
|
NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
|
|
|
NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn)
|
rs1553464828
|
|
NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
|
|
|
NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
|
|
|
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr)
|
rs2103640952
|
|
NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
|
|
|
NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly)
|
rs1288295388
|
|
NM_004082.5(DCTN1):c.1750C>A (p.His584Asn)
|
rs2103640754
|
|
NM_004082.5(DCTN1):c.1752C>A (p.His584Gln)
|
rs1345909454
|
|
NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
|
|
|
NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
|
|
|
NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
|
|
|
NM_004082.5(DCTN1):c.178G>A (p.Val60Met)
|
rs74768853
|
|
NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
|
|
|
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn)
|
rs1558939544
|
|
NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
|
|
|
NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly)
|
rs1674611581
|
|
NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
|
|
|
NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
|
|
|
NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys)
|
rs1674609133
|
|
NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
|
|
|
NM_004082.5(DCTN1):c.1844T>A (p.Leu615His)
|
rs1674608736
|
|
NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter)
|
rs1674561364
|
|
NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
|
|
|
NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
|
|
|
NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
|
|
|
NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
|
|
|
NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
|
|
|
NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
|
|
|
NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
|
|
|
NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
|
|
|
NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu)
|
rs201095249
|
|
NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter)
|
rs866457869
|
|
NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln)
|
rs555733849
|
|
NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
|
|
|
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile)
|
rs1558938711
|
|
NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg)
|
rs2103632771
|
|
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)
|
rs886039228
|
|
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
|
|
|
NM_004082.5(DCTN1):c.2015+1G>C
|
rs2103632452
|
|
NM_004082.5(DCTN1):c.2016-3T>C
|
|
|
NM_004082.5(DCTN1):c.2016-6C>A
|
rs1573155729
|
|
NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
|
|
|
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe)
|
rs368531137
|
|
NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
|
|
|
NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
|
|
|
NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
|
|
|
NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly)
|
rs2103630948
|
|
NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
|
|
|
NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn)
|
rs72659377
|
|
NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
|
|
|
NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln)
|
rs1674536343
|
|
NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr)
|
rs2103630505
|
|
NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys)
|
rs1674533703
|
|
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
|
|
|
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe)
|
rs374500944
|
|
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
|
|
|
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
|
|
|
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
|
|
|
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
|
|
|
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys)
|
rs1287560245
|
|
NM_004082.5(DCTN1):c.2185-3C>T
|
|
|
NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
|
|
|
NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
|
|
|
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
|
|
|
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
|
|
|
NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
|
|
|
NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
|
|
|
NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
|
|
|
NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
|
|
|
NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser)
|
rs2103722715
|
|
NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
|
|
|
NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
|
|
|
NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
|
|
|
NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg)
|
rs2104418971
|
|
NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu)
|
rs1410846987
|
|
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
|
|
|
NM_004082.5(DCTN1):c.2316+5G>A
|
rs913439751
|
|
NM_004082.5(DCTN1):c.2317-2A>T
|
rs980571603
|
|
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
|
|
|
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)
|
rs1558948987
|
|
NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
|
|
|
NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val)
|
rs1558937413
|
|
NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val)
|
rs2104417734
|
|
NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
|
|
|
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val)
|
rs2104417597
|
|
NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)
|
|
|
NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg)
|
rs1297844991
|
|
NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn)
|
|
|
NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg)
|
rs1674452900
|
|
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
|
|
|
NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val)
|
rs573330919
|
|
NM_004082.5(DCTN1):c.2405G>A (p.Arg802Gln)
|
|
|
NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter)
|
rs1674450649
|
|
NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu)
|
rs1573152954
|
|
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly)
|
rs372500630
|
|
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
|
|
|
NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)
|
|
|
NM_004082.5(DCTN1):c.2467-8G>A
|
|
|
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro)
|
rs1470946965
|
|
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
|
|
|
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
|
|
|
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
|
|
|
NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg)
|
rs2104415444
|
|
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu)
|
rs75213803
|
|
NM_004082.5(DCTN1):c.2550G>C (p.Gln850His)
|
rs2104415238
|
|
NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys)
|
|
|
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
|
|
|
NM_004082.5(DCTN1):c.2608G>A (p.Ala870Thr)
|
rs1267339489
|
|
NM_004082.5(DCTN1):c.2612T>C (p.Phe871Ser)
|
|
|
NM_004082.5(DCTN1):c.2628+5G>T
|
|
|
NM_004082.5(DCTN1):c.2629-7C>A
|
rs1278207608
|
|
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
|
|
|
NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)
|
|
|
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)
|
rs1437825772
|
|
NM_004082.5(DCTN1):c.2681A>G (p.Asn894Ser)
|
rs1207333910
|
|
NM_004082.5(DCTN1):c.269G>A (p.Arg90His)
|
|
|
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
|
|
|
NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)
|
|
|
NM_004082.5(DCTN1):c.2719A>G (p.Met907Val)
|
rs1459064982
|
|
NM_004082.5(DCTN1):c.2731dup (p.Glu911fs)
|
rs1573151165
|
|
NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)
|
|
|
NM_004082.5(DCTN1):c.2749C>T (p.Pro917Ser)
|
|
|
NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)
|
|
|
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
|
|
|
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs)
|
rs1674376535
|
|
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)
|
rs373818927
|
|
NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)
|
|
|
NM_004082.5(DCTN1):c.279G>A (p.Gln93=)
|
rs1675325580
|
|
NM_004082.5(DCTN1):c.2808del (p.Asp937fs)
|
rs1674375059
|
|
NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn)
|
rs2104411784
|
|
NM_004082.5(DCTN1):c.280A>G (p.Ile94Val)
|
|
|
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
|
|
|
NM_004082.5(DCTN1):c.2879A>G (p.Lys960Arg)
|
rs1354697657
|
|
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala)
|
rs1675306520
|
|
NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)
|
|
|
NM_004082.5(DCTN1):c.2895G>T (p.Glu965Asp)
|
|
|
NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser)
|
rs568812456
|
|
NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met)
|
rs2104409827
|
|
NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro)
|
|
|
NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del)
|
rs1371339798
|
|
NM_004082.5(DCTN1):c.2938T>A (p.Leu980Met)
|
|
|
NM_004082.5(DCTN1):c.2951C>T (p.Ala984Val)
|
|
|
NM_004082.5(DCTN1):c.2963A>T (p.Asp988Val)
|
|
|
NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu)
|
rs1674344495
|
|
NM_004082.5(DCTN1):c.2964T>G (p.Asp988Glu)
|
|
|
NM_004082.5(DCTN1):c.2968C>T (p.Arg990Cys)
|
|
|
NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys)
|
rs768409522
|
|
NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala)
|
rs1558935430
|
|
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp)
|
rs1030053524
|
|
NM_004082.5(DCTN1):c.3017G>A (p.Arg1006Gln)
|
rs752882353
|
|
NM_004082.5(DCTN1):c.3029+19G>T
|
rs201665169
|
|
NM_004082.5(DCTN1):c.3029+5G>A
|
|
|
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu)
|
rs1674319515
|
|
NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)
|
|
|
NM_004082.5(DCTN1):c.305A>G (p.Asp102Gly)
|
|
|
NM_004082.5(DCTN1):c.3067A>G (p.Ile1023Val)
|
|
|
NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn)
|
rs1558935068
|
|
NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)
|
|
|
NM_004082.5(DCTN1):c.310A>G (p.Thr104Ala)
|
|
|
NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg)
|
|
|
NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met)
|
|
|
NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe)
|
|
|
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr)
|
rs1187766749
|
|
NM_004082.5(DCTN1):c.3157C>G (p.Pro1053Ala)
|
|
|
NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)
|
|
|
NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)
|
|
|
NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser)
|
rs1470101332
|
|
NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val)
|
rs752323459
|
|
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=)
|
rs1213472053
|
|
NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp)
|
|
|
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_004082.5(DCTN1):c.3212-2A>G
|
rs1674169667
|
|
NM_004082.5(DCTN1):c.3212-3C>T
|
|
|
NM_004082.5(DCTN1):c.3236G>A (p.Gly1079Glu)
|
|
|
NM_004082.5(DCTN1):c.3259G>C (p.Val1087Leu)
|
|
|
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)
|
|
|
NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)
|
|
|
NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe)
|
rs762263842
|
|
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys)
|
rs1246390551
|
|
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
|
|
|
NM_004082.5(DCTN1):c.3310A>G (p.Ile1104Val)
|
|
|
NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg)
|
rs1244901384
|
|
NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys)
|
rs765267495
|
|
NM_004082.5(DCTN1):c.332C>A (p.Ser111Tyr)
|
rs374419252
|
|
NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)
|
|
|
NM_004082.5(DCTN1):c.3335G>C (p.Ser1112Thr)
|
|
|
NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=)
|
|
|
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
|
|
|
NM_004082.5(DCTN1):c.3391G>T (p.Val1131Phe)
|
rs1296558175
|
|
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu)
|
rs1064797254
|
|
NM_004082.5(DCTN1):c.34-1G>C
|
|
|
NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)
|
|
|
NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg)
|
rs1674138994
|
|
NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)
|
|
|
NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly)
|
rs1573142045
|
|
NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr)
|
rs1399568739
|
|
NM_004082.5(DCTN1):c.3434C>G (p.Ala1145Gly)
|
|
|
NM_004082.5(DCTN1):c.3445T>C (p.Tyr1149His)
|
|
|
NM_004082.5(DCTN1):c.345A>G (p.Lys115=)
|
rs1675303256
|
|
NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg)
|
rs1674134327
|
|
NM_004082.5(DCTN1):c.3490A>T (p.Thr1164Ser)
|
rs72466493
|
|
NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg)
|
rs376549770
|
|
NM_004082.5(DCTN1):c.3499C>A (p.His1167Asn)
|
rs2104395345
|
|
NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys)
|
rs1442881228
|
|
NM_004082.5(DCTN1):c.3530-1G>A
|
rs2104393432
|
|
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn)
|
rs148146325
|
|
NM_004082.5(DCTN1):c.3542C>G (p.Pro1181Arg)
|
rs1403208705
|
|
NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu)
|
rs1403208705
|
|
NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val)
|
rs1477782343
|
|
NM_004082.5(DCTN1):c.3559G>C (p.Glu1187Gln)
|
rs1485769288
|
|
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=)
|
rs1674099395
|
|
NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)
|
|
|
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
|
|
|
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
|
|
|
NM_004082.5(DCTN1):c.3609+20C>T
|
|
|
NM_004082.5(DCTN1):c.3610-13_3612del
|
rs2104389854
|
|
NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)
|
|
|
NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg)
|
rs565866230
|
|
NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del)
|
rs1364182022
|
|
NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser)
|
rs184147813
|
|
NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)
|
|
|
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala)
|
rs886070472
|
|
NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His)
|
rs1276978486
|
|
NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)
|
|
|
NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)
|
|
|
NM_004082.5(DCTN1):c.3700-3C>G
|
|
|
NM_004082.5(DCTN1):c.3700-3C>T
|
rs747435830
|
|
NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val)
|
rs1200946425
|
|
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
|
|
|
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg)
|
rs769430160
|
|
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys)
|
rs752422008
|
|
NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn)
|
rs2104386809
|
|
NM_004082.5(DCTN1):c.374C>T (p.Thr125Ile)
|
rs1275593815
|
|
NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu)
|
rs1673994728
|
|
NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala)
|
rs766778493
|
|
NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)
|
|
|
NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg)
|
rs1238095268
|
|
NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr)
|
rs1553466338
|
|
NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr)
|
rs1375787578
|
|
NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met)
|
rs2104386411
|
|
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
|
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg)
|
rs751431467
|
|
NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu)
|
rs1673987624
|
|
NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)
|
|
|
NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)
|
|
|
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
|
|
|
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
|
|
|
NM_004082.5(DCTN1):c.394-2dup
|
rs1403988786
|
|
NM_004082.5(DCTN1):c.394-3C>T
|
|
|
NM_004082.5(DCTN1):c.394C>T (p.Arg132Trp)
|
|
|
NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln)
|
rs1675250026
|
|
NM_004082.5(DCTN1):c.414+1G>T
|
rs576198476
|
|
NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
|
|
|
NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu)
|
rs147939455
|
|
NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
|
|
|
NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg)
|
rs2103694207
|
|
NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
|
|
|
NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly)
|
rs781290307
|
|
NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln)
|
rs764615912
|
|
NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
|
|
|
NM_004082.5(DCTN1):c.432+1G>T
|
rs1235693710
|
|
NM_004082.5(DCTN1):c.433-3C>T
|
rs375832615
|
|
NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
|
|
|
NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly)
|
rs148810193
|
|
NM_004082.5(DCTN1):c.453+6A>G
|
|
|
NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
|
|
|
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser)
|
rs746429168
|
|
NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly)
|
rs1445980252
|
|
NM_004082.5(DCTN1):c.518C>T (p.Ala173Val)
|
rs1445980252
|
|
NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
|
|
|
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
|
|
|
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn)
|
rs1365948671
|
|
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser)
|
rs1674861180
|
|
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
|
|
|
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
|
|
|
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu)
|
rs1057518814
|
|
NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
|
|
|
NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
|
|
|
NM_004082.5(DCTN1):c.5C>T (p.Ala2Val)
|
rs1675439973
|
|
NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
|
|
|
NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
|
|
|
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)
|
rs770302677
|
|
NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg)
|
rs1558943273
|
|
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu)
|
rs754827026
|
|
NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln)
|
rs1573164746
|
|
NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr)
|
rs372733713
|
|
NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
|
|
|
NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
|
|
|
NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser)
|
rs1674806644
|
|
NM_004082.5(DCTN1):c.742C>G (p.Leu248Val)
|
rs112475795
|
|
NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
|
|
|
NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
|
|
|
NM_004082.5(DCTN1):c.793A>T (p.Met265Leu)
|
rs2103663572
|
|
NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
|
|
|
NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
|
|
|
NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
|
|
|
NM_004082.5(DCTN1):c.833A>T (p.Glu278Val)
|
rs1553465344
|
|
NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr)
|
rs1674798940
|
|
NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
|
|
|
NM_004082.5(DCTN1):c.844-2A>G
|
rs2103661242
|
|
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg)
|
rs755017882
|
|
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)
|
rs896989123
|
|
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys)
|
rs1200414397
|
|
NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly)
|
rs759253635
|
|
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
|
|
|
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
|
|
|
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg)
|
rs760539371
|
|
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp)
|
rs1064797256
|
|
NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
|
|
|
NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
|
|
|
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
|
|
|
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala)
|
rs755474083
|
|
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu)
|
rs781691837
|
|
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
|
|
|
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
|
|
|
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
|
|
|
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
|
|
|
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys)
|
rs777026649
|
|
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
|
|
|
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
|
|
|
NM_004738.5(VAPB):c.159del (p.Cys53fs)
|
|
|
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
|
|
|
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
|
|
|
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
|
|
|
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
|
|
|
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
|
|
|
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
|
|
|
NM_004738.5(VAPB):c.194C>T (p.Ala65Val)
|
rs1555813002
|
|
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe)
|
rs762603323
|
|
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
|
|
|
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg)
|
rs2123088879
|
|
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
|
|
|
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
|
|
|
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp)
|
rs2123088925
|
|
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
|
|
|
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
|
|
|
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
|
|
|
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
|
|
|
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
|
|
|
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
|
|
|
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr)
|
rs1295445556
|
|
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
|
|
|
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
|
|
|
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
|
|
|
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser)
|
rs1431840351
|
|
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
|
|
|
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu)
|
rs1987730075
|
|
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
|
|
|
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
|
|
|
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
|
|
|
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro)
|
rs760656837
|
|
NM_004738.5(VAPB):c.396+6T>C
|
|
|
NM_004738.5(VAPB):c.421A>G (p.Ile141Val)
|
rs1392475929
|
|
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
|
|
|
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser)
|
rs1989146263
|
|
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
|
|
|
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
|
|
|
NM_004738.5(VAPB):c.457G>A (p.Val153Met)
|
rs1362788253
|
|
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
|
|
|
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser)
|
rs1555815825
|
|
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val)
|
rs2123099930
|
|
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
|
|
|
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr)
|
rs1989148708
|
|
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser)
|
rs1039112226
|
|
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
|
|
|
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys)
|
rs1568720020
|
|
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)
|
rs145483046
|
|
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
|
|
|
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
|
|
|
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro)
|
rs1252954619
|
|
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp)
|
rs371134278
|
|
NM_004738.5(VAPB):c.59-3C>T
|
|
|
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
|
|
|
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser)
|
rs757786343
|
|
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
|
|
|
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
|
|
|
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp)
|
rs1989221617
|
|
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
|
|
|
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)
|
rs786205553
|
|
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg)
|
rs1989222839
|
|
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro)
|
rs763755820
|
|
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser)
|
rs1439925669
|
|
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp)
|
rs2123105103
|
|
NM_004738.5(VAPB):c.677C>T (p.Ala226Val)
|
rs2123105103
|
|
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
|
|
|
NM_004738.5(VAPB):c.688T>G (p.Leu230Val)
|
rs1600821730
|
|
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
|
|
|
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
|
|
|
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
|
|
|
NM_004738.5(VAPB):c.709A>G (p.Ile237Val)
|
rs1555816248
|
|
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
|
|
|
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
|
|
|
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala)
|
rs2123058661
|
|
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp)
|
rs2123058664
|
|
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser)
|
rs1293144080
|
|
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
|
|
|
NM_004960.3(FUS):c.515_523+3del
|
|
|
NM_004960.4(FUS):c.1055A>T (p.Asp352Val)
|
|
|
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
|
|
|
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys)
|
rs773141319
|
|
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
|
|
|
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
|
|
|
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)
|
rs560450437
|
|
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
|
|
|
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
|
|
|
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
|
|
|
NM_004960.4(FUS):c.1317T>C (p.Ser439=)
|
rs377010944
|
|
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
|
|
|
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
|
|
|
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu)
|
rs1131691846
|
|
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)
|
rs914056789
|
|
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
|
|
|
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
|
|
|
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser)
|
rs753458243
|
|
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp)
|
rs267606831
|
|
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
|
|
|
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp)
|
rs2079357583
|
|
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
|
|
|
NM_004960.4(FUS):c.1550A>G (p.His517Arg)
|
rs1085308015
|
|
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly)
|
rs1409962577
|
|
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu)
|
rs1567479067
|
|
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly)
|
rs1555509693
|
|
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
|
|
|
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp)
|
rs267606833
|
|
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del)
|
rs777545405
|
|
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
|
|
|
NM_004960.4(FUS):c.215C>T (p.Pro72Leu)
|
rs2144107259
|
|
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)
|
rs2079220021
|
|
NM_004960.4(FUS):c.335+6G>C
|
|
|
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
|
|
|
NM_004960.4(FUS):c.39-18G>A
|
|
|
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
|
|
|
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1])
|
rs747579808
|
|
NM_004960.4(FUS):c.474G>C (p.Gln158His)
|
|
|
NM_004960.4(FUS):c.493A>G (p.Ser165Gly)
|
rs1325339011
|
|
NM_004960.4(FUS):c.493_495del (p.Ser165del)
|
rs2079227565
|
|
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
|
|
|
NM_004960.4(FUS):c.52C>T (p.Pro18Ser)
|
rs144888138
|
|
NM_004960.4(FUS):c.537A>C (p.Gln179His)
|
|
|
NM_004960.4(FUS):c.550A>G (p.Met184Val)
|
|
|
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
|
|
|
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
|
|
|
NM_004960.4(FUS):c.571G>A (p.Gly191Ser)
|
rs148758737
|
|
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
|
|
|
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
|
|
|
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
|
|
|
NM_004960.4(FUS):c.647G>A (p.Arg216His)
|
|
|
NM_004960.4(FUS):c.649G>C (p.Gly217Arg)
|
rs565915110
|
|
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del)
|
rs756437417
|
|
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
|
|
|
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)
|
|
|
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup)
|
rs757651881
|
|
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup)
|
rs757651881
|
|
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
|
|
|
NM_004960.4(FUS):c.691G>A (p.Gly231Ser)
|
rs2144114616
|
|
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
|
|
|
NM_004960.4(FUS):c.731G>A (p.Arg244His)
|
|
|
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
|
|
|
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
|
|
|
NM_004960.4(FUS):c.743G>A (p.Arg248His)
|
rs760351730
|
|
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
|
|
|
NM_004960.4(FUS):c.823C>T (p.His275Tyr)
|
|
|
NM_004960.4(FUS):c.831C>T (p.Ser277=)
|
|
|
NM_004960.4(FUS):c.833-6A>G
|
|
|
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
|
|
|
NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu)
|
rs2132330402
|
|
NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys)
|
rs867727095
|
|
NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
|
|
|
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro)
|
rs779459049
|
|
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu)
|
rs2132329730
|
|
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly)
|
rs1382890194
|
|
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
|
|
|
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
|
|
|
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
|
|
|
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu)
|
rs1820911034
|
|
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser)
|
rs768933234
|
|
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg)
|
rs768933234
|
|
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile)
|
rs1820909011
|
|
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
|
|
|
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
|
|
|
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
|
|
|
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
|
|
|
NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
|
|
|
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)
|
rs200076129
|
|
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp)
|
rs200076129
|
|
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala)
|
rs2132324643
|
|
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp)
|
rs1820834441
|
|
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu)
|
rs1820832825
|
|
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
|
|
|
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
|
|
|
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del)
|
rs2132324233
|
|
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr)
|
rs777650644
|
|
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro)
|
rs777650644
|
|
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)
|
rs1554707680
|
|
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
|
|
|
NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
|
|
|
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
|
|
|
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu)
|
rs1406092949
|
|
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe)
|
rs1820825348
|
|
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu)
|
rs1396152845
|
|
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
|
|
|
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs)
|
rs752243393
|
|
NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His)
|
rs764002616
|
|
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg)
|
rs1564096623
|
|
NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro)
|
rs1820931363
|
|
NM_007126.5(VCP):c.1031T>C (p.Met344Thr)
|
|
|
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
|
|
|
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
|
rs1828723406
|
|
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
|
|
|
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu)
|
rs1828722725
|
|
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu)
|
rs1563977665
|
|
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser)
|
|
|
NM_007126.5(VCP):c.1180G>A (p.Val394Met)
|
rs1587122661
|
|
NM_007126.5(VCP):c.1186C>G (p.Leu396Val)
|
rs2131031813
|
|
NM_007126.5(VCP):c.1197A>G (p.Val399=)
|
rs886044575
|
|
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser)
|
|
|
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
|
|
|
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile)
|
rs148329626
|
|
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly)
|
rs2131031304
|
|
NM_007126.5(VCP):c.1283A>T (p.Asp428Val)
|
rs2131031300
|
|
NM_007126.5(VCP):c.1307C>T (p.Thr436Ile)
|
|
|
NM_007126.5(VCP):c.1309A>G (p.Ile437Val)
|
|
|
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr)
|
|
|
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys)
|
rs955652521
|
|
NM_007126.5(VCP):c.1324A>G (p.Met442Val)
|
rs1828712085
|
|
NM_007126.5(VCP):c.1357C>T (p.Arg453Trp)
|
rs755519450
|
|
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly)
|
rs1554668345
|
|
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
|
|
|
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)
|
|
|
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)
|
|
|
NM_007126.5(VCP):c.1696-34_1716dup
|
rs2131029563
|
|
NM_007126.5(VCP):c.1696-3C>T
|
|
|
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
|
|
|
NM_007126.5(VCP):c.1790C>T (p.Ala597Val)
|
rs890637602
|
|
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala)
|
rs2131029426
|
|
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser)
|
rs1828681453
|
|
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile)
|
|
|
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
|
|
|
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)
|
|
|
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)
|
rs765795425
|
|
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser)
|
rs2131029246
|
|
NM_007126.5(VCP):c.2004+8C>T
|
|
|
NM_007126.5(VCP):c.2014T>G (p.Leu672Val)
|
rs757829124
|
|
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
|
|
|
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys)
|
|
|
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)
|
|
|
NM_007126.5(VCP):c.211G>A (p.Val71Ile)
|
|
|
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln)
|
|
|
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala)
|
|
|
NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)
|
|
|
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
|
|
|
NM_007126.5(VCP):c.2228C>T (p.Ala743Val)
|
rs771662410
|
|
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys)
|
rs2131026595
|
|
NM_007126.5(VCP):c.2234G>A (p.Arg745His)
|
|
|
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys)
|
rs1828632660
|
|
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)
|
rs1587117319
|
|
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
|
|
|
NM_007126.5(VCP):c.2315+6T>C
|
|
|
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala)
|
rs1828626335
|
|
NM_007126.5(VCP):c.2345G>T (p.Gly782Val)
|
rs1828626335
|
|
NM_007126.5(VCP):c.2381G>A (p.Ser794Asn)
|
|
|
NM_007126.5(VCP):c.244A>C (p.Ile82Leu)
|
|
|
NM_007126.5(VCP):c.265C>T (p.Arg89Trp)
|
rs1828865320
|
|
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)
|
|
|
NM_007126.5(VCP):c.268A>G (p.Asn90Asp)
|
rs1828865209
|
|
NM_007126.5(VCP):c.273C>G (p.Asn91Lys)
|
rs1563980966
|
|
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
|
|
|
NM_007126.5(VCP):c.310C>T (p.Pro104Ser)
|
rs1186937475
|
|
NM_007126.5(VCP):c.313T>C (p.Cys105Arg)
|
rs1828842736
|
|
NM_007126.5(VCP):c.320A>T (p.Asp107Val)
|
rs1563980440
|
|
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
|
|
|
NM_007126.5(VCP):c.365C>T (p.Thr122Ile)
|
rs2131038987
|
|
NM_007126.5(VCP):c.367G>A (p.Val123Met)
|
rs2131038977
|
|
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
|
|
|
NM_007126.5(VCP):c.377T>G (p.Ile126Ser)
|
rs1828841085
|
|
NM_007126.5(VCP):c.380C>T (p.Thr127Ile)
|
|
|
NM_007126.5(VCP):c.382G>C (p.Gly128Arg)
|
|
|
NM_007126.5(VCP):c.383G>C (p.Gly128Ala)
|
rs1554668979
|
|
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
|
|
|
NM_007126.5(VCP):c.400T>C (p.Tyr134His)
|
|
|
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys)
|
rs1828840466
|
|
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)
|
|
|
NM_007126.5(VCP):c.407A>C (p.Lys136Thr)
|
|
|
NM_007126.5(VCP):c.445+8C>G
|
|
|
NM_007126.5(VCP):c.446-4_446-3delinsAT
|
rs1828808684
|
|
NM_007126.5(VCP):c.453T>G (p.Ile151Met)
|
rs1828808459
|
|
NM_007126.5(VCP):c.460G>T (p.Val154Phe)
|
rs1587127201
|
|
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
|
|
|
NM_007126.5(VCP):c.479C>T (p.Ala160Val)
|
rs1554668804
|
|
NM_007126.5(VCP):c.486G>C (p.Glu162Asp)
|
|
|
NM_007126.5(VCP):c.487T>A (p.Phe163Ile)
|
|
|
NM_007126.5(VCP):c.512G>A (p.Ser171Asn)
|
rs200911363
|
|
NM_007126.5(VCP):c.512G>T (p.Ser171Ile)
|
rs200911363
|
|
NM_007126.5(VCP):c.523A>G (p.Ile175Val)
|
rs1828806031
|
|
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
|
|
|
NM_007126.5(VCP):c.577-2A>G
|
rs1828784075
|
|
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
|
|
|
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
|
|
|
NM_007126.5(VCP):c.636G>C (p.Gln212His)
|
|
|
NM_007126.5(VCP):c.648A>G (p.Ile216Met)
|
rs1828783140
|
|
NM_007126.5(VCP):c.677A>T (p.His226Leu)
|
rs2131035134
|
|
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
|
|
|
NM_007126.5(VCP):c.760A>T (p.Ile254Phe)
|
|
|
NM_007126.5(VCP):c.767G>A (p.Arg256Gln)
|
rs1828757317
|
|
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
|
|
|
NM_007126.5(VCP):c.810T>C (p.Asn270=)
|
rs1372175418
|
|
NM_007126.5(VCP):c.811+2_811+3inv
|
|
|
NM_007126.5(VCP):c.82G>A (p.Val28Ile)
|
rs1480586527
|
|
NM_007126.5(VCP):c.84T>A (p.Val28=)
|
rs1587130660
|
|
NM_007126.5(VCP):c.94A>G (p.Ile32Val)
|
rs1828872947
|
|
NM_007126.5(VCP):c.995T>C (p.Met332Thr)
|
rs1828737891
|
|
NM_007375.4(TARDBP):c.*697G>A
|
rs387906334
|
|
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
|
|
|
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
|
|
|
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg)
|
rs1553159719
|
|
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
|
|
|
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup)
|
rs1570725407
|
|
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe)
|
rs1643661597
|
|
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
|
|
|
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter)
|
rs147795017
|
|
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
|
|
|
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
|
|
|
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
|
|
|
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
|
|
|
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter)
|
rs2100857066
|
|
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
|
|
|
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
|
|
|
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu)
|
rs80356743
|
|
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp)
|
rs2100857132
|
|
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
|
|
|
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
|
|
|
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp)
|
rs1643465434
|
|
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile)
|
rs1553159049
|
|
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
|
|
|
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
|
|
|
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
|
|
|
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
|
|
|
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
|
|
|
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)
|
rs121908395
|
|
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)
|
rs1643653768
|
|
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
|
|
|
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
|
|
|
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
|
|
|
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
|
|
|
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
|
|
|
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn)
|
rs80356728
|
|
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
|
|
|
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
|
|
|
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser)
|
rs2136056628
|
|
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile)
|
rs1592369002
|
|
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp)
|
rs1267274595
|
|
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
|
|
|
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
|
|
|
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
|
|
|
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
|
|
|
NM_013254.4(TBK1):c.1249-5A>C
|
|
|
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
|
|
|
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile)
|
rs201332131
|
|
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
|
|
|
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
|
|
|
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
|
|
|
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
|
|
|
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln)
|
rs2136079527
|
|
NM_013254.4(TBK1):c.1340+3A>G
|
|
|
NM_013254.4(TBK1):c.1341-10_1341-9del
|
|
|
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu)
|
rs1565821771
|
|
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
|
|
|
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
|
|
|
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
|
|
|
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser)
|
rs369875862
|
|
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala)
|
rs2136056652
|
|
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser)
|
rs2136082596
|
|
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
|
|
|
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala)
|
rs1010930015
|
|
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
|
|
|
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met)
|
rs375618295
|
|
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys)
|
rs922333386
|
|
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro)
|
rs1192216525
|
|
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
|
|
|
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp)
|
rs2040917422
|
|
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
|
|
|
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
|
|
|
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys)
|
rs776059942
|
|
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
|
|
|
NM_013254.4(TBK1):c.1720+2dup
|
rs2136087264
|
|
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly)
|
rs767446906
|
|
NM_013254.4(TBK1):c.172G>A (p.Val58Met)
|
rs1042991833
|
|
NM_013254.4(TBK1):c.1760+4_1760+7del
|
rs753802322
|
|
NM_013254.4(TBK1):c.1761-3C>G
|
|
|
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu)
|
rs1565824642
|
|
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile)
|
rs2136088188
|
|
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile)
|
rs2136088345
|
|
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
|
|
|
NM_013254.4(TBK1):c.1887G>C (p.Gln629His)
|
rs752047246
|
|
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del)
|
rs2136088359
|
|
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn)
|
rs1592376939
|
|
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
|
|
|
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly)
|
rs2136089009
|
|
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser)
|
rs1306279522
|
|
NM_013254.4(TBK1):c.2067-7T>A
|
rs1187318445
|
|
NM_013254.4(TBK1):c.2067-7_2067-3del
|
|
|
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
|
|
|
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
|
|
|
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser)
|
rs2136089194
|
|
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del)
|
rs2040947403
|
|
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
|
|
|
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
|
|
|
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
|
|
|
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser)
|
rs2136092217
|
|
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
|
|
|
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
|
|
|
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val)
|
rs2136092255
|
|
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
|
|
|
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser)
|
rs2136092274
|
|
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
|
|
|
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
|
|
|
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
|
|
|
NM_013254.4(TBK1):c.228+4A>C
|
rs2136056750
|
|
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
|
|
|
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)
|
rs748007618
|
|
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
|
|
|
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
|
|
|
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
|
|
|
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
|
|
|
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
|
|
|
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile)
|
rs767134050
|
|
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
|
|
|
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
|
|
|
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
|
|
|
NM_013254.4(TBK1):c.358+5G>A
|
rs2136061124
|
|
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
|
|
|
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
|
|
|
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr)
|
rs2136052738
|
|
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
|
|
|
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)
|
rs1027249002
|
|
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
|
|
|
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
|
|
|
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
|
|
|
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys)
|
rs55824172
|
|
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)
|
rs55824172
|
|
NM_013254.4(TBK1):c.511G>A (p.Val171Ile)
|
rs2136063606
|
|
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile)
|
rs2136063629
|
|
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
|
|
|
NM_013254.4(TBK1):c.535T>C (p.Tyr179His)
|
rs2136063631
|
|
NM_013254.4(TBK1):c.541-3T>G
|
rs747738866
|
|
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
|
|
|
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
|
|
|
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu)
|
rs781700275
|
|
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
|
|
|
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
|
|
|
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile)
|
rs2136069875
|
|
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
|
|
|
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
|
|
|
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp)
|
rs576726084
|
|
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
|
|
|
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
|
|
|
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
|
|
|
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr)
|
rs1555203984
|
|
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
|
|
|
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
|
|
|
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
|
|
|
NM_013254.4(TBK1):c.813-3T>C
|
rs2040770701
|
|
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe)
|
rs2136052800
|
|
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
|
|
|
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
|
|
|
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
|
|
|
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile)
|
rs917131397
|
|
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)
|
|
|
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)
|
|
|
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)
|
|
|
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile)
|
rs748840115
|
|
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
|
|
|
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
|
|
|
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
|
|
|
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
|
|
|
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly)
|
rs2068634857
|
|
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
|
|
|
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu)
|
rs756653207
|
|
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)
|
|
|
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala)
|
rs2146636525
|
|
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
|
|
|
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
|
|
|
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
|
|
|
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)
|
|
|
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu)
|
rs1602589802
|
|
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)
|
|
|
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)
|
|
|
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
|
|
|
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)
|
|
|
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
|
|
|
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
|
|
|
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
|
|
|
NM_013444.4(UBQLN2):c.278A>G (p.His93Arg)
|
rs2146635699
|
|
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)
|
|
|
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln)
|
rs1602589042
|
|
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)
|
|
|
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
|
|
|
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
|
|
|
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
|
|
|
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
|
|
|
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)
|
|
|
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)
|
|
|
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)
|
|
|
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)
|
|
|
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val)
|
rs2146635566
|
|
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)
|
|
|
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)
|
|
|
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)
|
|
|
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr)
|
rs1360902821
|
|
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)
|
|
|
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)
|
|
|
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)
|
|
|
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)
|
|
|
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr)
|
rs749463696
|
|
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg)
|
rs2146636094
|
|
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His)
|
rs2068632850
|
|
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu)
|
rs1555977386
|
|
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
|
|
|
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
|
|
|
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
|
|
|
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
|
|
|
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
|
|
|
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)
|
rs1706202120
|
|
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)
|
rs2106908498
|
|
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
|
|
|
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)
|
rs747904374
|
|
NM_014043.4(CHMP2B):c.34+6T>C
|
|
|
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
|
|
|
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
|
|
|
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)
|
rs1706285788
|
|
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)
|
rs2106916834
|
|
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
|
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
|
|
|
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
|
|
|
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp)
|
rs2106917283
|
|
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
|
|
|
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)
|
rs750217435
|
|
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
|
|
|
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
|
|
|
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
|
|
|
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
|
|
|
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)
|
rs775142652
|
|
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
|
|
|
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
|
|
|
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
|
|
|
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)
|
rs1554821963
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
|
|
|
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)
|
rs2131461800
|
|
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
|
rs754200234
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
|
|
|
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
|
rs1589791895
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
|
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)
|
rs1847120441
|
|
NM_015046.7(SETX):c.173A>G (p.His58Arg)
|
|
|
NM_015046.7(SETX):c.177+6A>G
|
rs2131575018
|
|
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
|
|
|
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
|
|
|
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
|
|
|
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe)
|
rs143340285
|
|
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
|
|
|
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
|
|
|
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)
|
rs998278975
|
|
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
|
|
|
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
|
|
|
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
|
|
|
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
|
|
|
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
|
|
|
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)
|
rs1554821571
|
|
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
|
|
|
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)
|
rs2131454695
|
|
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
|
|
|
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)
|
rs1554821462
|
|
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
|
|
|
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu)
|
rs2131453786
|
|
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)
|
rs1554821445
|
|
NM_015046.7(SETX):c.23C>T (p.Thr8Met)
|
rs1057520367
|
|
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
|
|
|
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
|
|
|
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
|
|
|
NM_015046.7(SETX):c.2516A>T (p.His839Leu)
|
rs1847047743
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg)
|
rs774820992
|
|
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
|
|
|
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
|
|
|
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
|
|
|
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
|
|
|
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu)
|
rs2131450530
|
|
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
|
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
|
|
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
|
|
|
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn)
|
rs1258279869
|
|
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
|
|
|
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
|
|
|
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
|
|
|
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
|
|
|
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
|
|
|
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
|
|
|
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val)
|
rs931570379
|
|
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
|
|
|
NM_015046.7(SETX):c.3265G>A (p.Val1089Met)
|
rs917637229
|
|
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
|
|
|
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
|
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp)
|
rs1278965355
|
|
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala)
|
rs866546546
|
|
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
|
rs907569728
|
|
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
|
|
|
NM_015046.7(SETX):c.3422A>T (p.His1141Leu)
|
rs1554820904
|
|
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
|
rs748505684
|
|
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
|
|
|
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
|
rs1846954116
|
|
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
|
|
|
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
|
|
|
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)
|
rs1846942479
|
|
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del)
|
rs1238089698
|
|
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
|
|
|
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe)
|
rs2131440671
|
|
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
|
|
|
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
|
rs1467137301
|
|
NM_015046.7(SETX):c.3737A>C (p.His1246Pro)
|
rs2131440106
|
|
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)
|
rs2131439346
|
|
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
|
|
|
NM_015046.7(SETX):c.388+8T>G
|
|
|
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
|
|
|
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
|
|
|
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
|
|
|
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
|
|
|
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
|
|
|
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
|
|
|
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
|
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
|
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
|
|
|
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
|
|
|
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
|
|
|
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
|
|
|
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)
|
rs199974622
|
|
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
|
|
|
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val)
|
rs1554820219
|
|
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)
|
rs2131431252
|
|
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)
|
rs1554820196
|
|
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
|
|
|
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)
|
rs781383567
|
|
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)
|
rs1846817047
|
|
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
|
|
|
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
|
|
|
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
|
|
|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
|
|
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
|
|
|
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
|
|
|
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
|
|
|
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
|
|
|
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
|
rs1846757741
|
|
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
|
|
|
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
|
|
|
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
|
|
|
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
|
|
|
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
|
|
|
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
|
|
|
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
|
|
|
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
|
|
|
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
|
|
|
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu)
|
rs2131306081
|
|
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
|
|
|
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
|
|
|
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
|
|
|
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)
|
rs1844774142
|
|
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
|
rs1443102808
|
|
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
|
|
|
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
|
|
|
NM_015046.7(SETX):c.589T>A (p.Phe197Ile)
|
rs1847622210
|
|
NM_015046.7(SETX):c.590T>C (p.Phe197Ser)
|
rs1847622037
|
|
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
|
|
|
NM_015046.7(SETX):c.5949+4_5949+7del
|
rs1844702677
|
|
NM_015046.7(SETX):c.5949G>A (p.Glu1983=)
|
rs2131289331
|
|
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser)
|
rs2131284986
|
|
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
|
|
|
NM_015046.7(SETX):c.6107-3C>T
|
|
|
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)
|
rs762479596
|
|
NM_015046.7(SETX):c.617A>C (p.Glu206Ala)
|
rs759880306
|
|
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met)
|
rs2131247894
|
|
NM_015046.7(SETX):c.6209-12T>G
|
|
|
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
|
|
|
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
|
|
|
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
|
|
|
NM_015046.7(SETX):c.6324+5C>G
|
|
|
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
|
rs1589647043
|
|
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)
|
rs957607977
|
|
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)
|
rs1387036733
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015046.7(SETX):c.64G>T (p.Ala22Ser)
|
rs756600708
|
|
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys)
|
rs1843647719
|
|
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)
|
rs1843510567
|
|
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
|
|
|
NM_015046.7(SETX):c.6654+5G>A
|
rs1843497922
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys)
|
rs2131182464
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
|
|
|
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)
|
rs1843274414
|
|
NM_015046.7(SETX):c.6808A>C (p.Asn2270His)
|
rs1843272035
|
|
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
|
|
|
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala)
|
rs1843271572
|
|
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
|
|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
|
|
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
|
|
|
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
|
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7100+7C>T
|
|
|
NM_015046.7(SETX):c.7101-16T>C
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp)
|
rs2131148064
|
|
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe)
|
rs150489999
|
|
NM_015046.7(SETX):c.7200-3T>C
|
|
|
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
|
|
|
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
|
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
|
|
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
|
|
|
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)
|
rs753051382
|
|
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
|
|
|
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)
|
rs767515528
|
|
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)
|
rs771027936
|
|
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys)
|
rs2131114345
|
|
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
|
|
|
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)
|
rs1564464193
|
|
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)
|
rs1303389955
|
|
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)
|
rs557347174
|
|
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
|
|
|
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys)
|
rs2131113325
|
|
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp)
|
rs2131113303
|
|
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
|
|
|
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg)
|
rs2131113093
|
|
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
|
|
|
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
|
|
|
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)
|
rs1039417117
|
|
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
|
|
|
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly)
|
rs2131112014
|
|
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
|
|
|
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)
|
rs2131111712
|
|
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr)
|
rs979454428
|
|
NM_015046.7(SETX):c.784A>G (p.Lys262Glu)
|
rs2131492208
|
|
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg)
|
rs778362262
|
|
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
|
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
|
|
NM_015046.7(SETX):c.7984del (p.Arg2662fs)
|
rs2131109788
|
|
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
|
|
|
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
|
|
|
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
|
rs749325764
|
|
NM_015046.7(SETX):c.823G>C (p.Glu275Gln)
|
rs901741485
|
|
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
|
|
|
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
|
|
|
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
|
|
|
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
|
|
|
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
|
rs1561938220
|
|
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
|
|
|
NM_018834.6(MATR3):c.1130-15T>A
|
|
|
NM_018834.6(MATR3):c.1130-15T>C
|
|
|
NM_018834.6(MATR3):c.1130-8C>G
|
|
|
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
|
|
|
NM_018834.6(MATR3):c.1182+4A>C
|
rs2151988816
|
|
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
|
|
|
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
|
|
|
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn)
|
rs2151995266
|
|
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
|
|
|
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
|
|
|
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
|
|
|
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
|
|
|
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
|
|
|
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
|
|
|
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
|
|
|
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
|
|
|
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
|
|
|
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
|
|
|
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn)
|
rs1581251198
|
|
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)
|
rs1033118784
|
|
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile)
|
rs2152007107
|
|
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
|
|
|
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser)
|
rs2152007192
|
|
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
|
|
|
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
|
|
|
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
|
|
|
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
|
|
|
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg)
|
rs2152009933
|
|
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr)
|
rs1357612214
|
|
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
|
|
|
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
|
|
|
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg)
|
rs2152010076
|
|
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
|
|
|
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)
|
rs1755638457
|
|
NM_018834.6(MATR3):c.1912G>C (p.Asp638His)
|
rs1554148872
|
|
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala)
|
rs2152010206
|
|
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser)
|
rs765603068
|
|
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
|
|
|
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
|
|
|
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
|
|
|
NM_018834.6(MATR3):c.1929G>C (p.Gln643His)
|
rs553655919
|
|
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
|
|
|
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu)
|
rs749026971
|
|
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
|
|
|
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
|
|
|
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
|
|
|
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
|
|
|
NM_018834.6(MATR3):c.2038G>C (p.Asp680His)
|
rs752161415
|
|
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
|
|
|
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr)
|
rs765251685
|
|
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
|
|
|
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
|
|
|
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
|
|
|
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
|
|
|
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
|
|
|
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn)
|
rs2152010949
|
|
NM_018834.6(MATR3):c.2148+3A>G
|
|
|
NM_018834.6(MATR3):c.2149-5T>C
|
|
|
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
|
|
|
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
|
|
|
NM_018834.6(MATR3):c.2170G>C (p.Asp724His)
|
rs1452903586
|
|
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val)
|
rs1235948155
|
|
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys)
|
rs772833565
|
|
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
|
|
|
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly)
|
rs762668138
|
|
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
|
|
|
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
|
|
|
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
|
|
|
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
|
|
|
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
|
|
|
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del)
|
rs1016579955
|
|
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
|
|
|
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
|
|
|
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
|
|
|
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
|
|
|
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn)
|
rs1755815403
|
|
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
|
|
|
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
|
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
|
|
|
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser)
|
rs370051410
|
|
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
|
|
|
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
|
|
|
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
|
|
|
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
|
|
|
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
|
|
|
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
|
|
|
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
|
|
|
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg)
|
rs2152024424
|
|
NM_018834.6(MATR3):c.2493+3A>G
|
rs2152024439
|
|
NM_018834.6(MATR3):c.2494-14_2494-11del
|
|
|
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
|
|
|
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
|
|
|
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu)
|
rs2152033705
|
|
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del)
|
rs1232740498
|
|
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
|
|
|
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
|
|
|
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn)
|
rs1460343731
|
|
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
|
|
|
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
|
rs2151960855
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe)
|
rs1191529191
|
|
NM_018834.6(MATR3):c.493_495del (p.Ala165del)
|
rs760040641
|
|
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp)
|
rs138894013
|
|
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
|
|
|
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
|
|
|
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser)
|
rs2151961098
|
|
NM_018834.6(MATR3):c.628_630del (p.Glu210del)
|
rs1754795693
|
|
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
|
|
|
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
|
|
|
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
|
|
|
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu)
|
rs2151961434
|
|
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
|
|
|
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
|
|
|
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
|
|
|
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
|
|
|
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
|
|
|
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile)
|
rs1554146560
|
|
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
|
|
|
NM_018834.6(MATR3):c.832A>G (p.Ile278Val)
|
rs765718462
|
|
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu)
|
rs1318047828
|
|
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)
|
rs1754770320
|
|
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
|
|
|
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
|
|
|
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
|
|
|
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
|
|
|
NM_018834.6(MATR3):c.975-9T>G
|
|
|
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
|
|
|
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
|
|
|
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
|
|
|
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr)
|
rs752472094
|
|
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu)
|
rs1569151061
|
|
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
|
|
|
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
|
|
|
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
|
|
|
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
|
|
|
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
|
|
|
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile)
|
rs781304084
|
|
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp)
|
rs730880031
|
|
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn)
|
rs1926926045
|
|
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val)
|
rs1926925550
|
|
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg)
|
rs2145926804
|
|
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro)
|
rs542541060
|
|
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
|
|
|
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
|
|
|
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)
|
rs767069606
|
|
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys)
|
rs1555925855
|
|
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
|
|
|
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
|
|
|
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
|
|
|
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
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NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
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NM_213720.3(CHCHD10):c.262-11T>A
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NM_213720.3(CHCHD10):c.262-3C>G
|
rs867521564
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NM_213720.3(CHCHD10):c.262-4C>G
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NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser)
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rs1926806684
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NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp)
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rs564469294
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NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
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NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
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NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)
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rs1252496774
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NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter)
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rs1926798746
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NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg)
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rs1348340557
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NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg)
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rs1926995828
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NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu)
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rs776781535
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NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
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NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val)
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rs2145924358
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NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter)
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rs9153
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NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)
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rs9153
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NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
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NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly)
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rs951686050
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NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
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NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
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NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
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NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly)
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rs750293377
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NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg)
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rs964013488
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NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys)
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rs931085449
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NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn)
|
rs1926782349
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NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
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NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
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NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn)
|
rs1601354726
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NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
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NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
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NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro)
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rs1569149526
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NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg)
|
rs2145924084
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NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val)
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rs1926990244
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NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
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NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
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NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
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NM_213720.3(CHCHD10):c.41+9G>A
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NM_213720.3(CHCHD10):c.410-3C>G
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NM_213720.3(CHCHD10):c.410-3C>T
|
rs767630947
|
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NM_213720.3(CHCHD10):c.42-6C>G
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|
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NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr)
|
rs1294246273
|
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NM_213720.3(CHCHD10):c.42C>T (p.Ser14=)
|
rs1447212146
|
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NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
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NM_213720.3(CHCHD10):c.44G>A (p.Arg15His)
|
rs730880030
|
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NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser)
|
rs1926950297
|
|
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
|
|
|
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser)
|
rs917149626
|
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NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
|
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NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
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NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro)
|
rs766426370
|
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NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
|
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NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
|
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