NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)
|
rs1554066397
|
0.00571
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser)
|
rs139382018
|
0.00058
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)
|
rs140547520
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_004960.4(FUS):c.646C>T (p.Arg216Cys)
|
rs267606832
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser)
|
rs397518454
|
0.00009
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)
|
rs778264897
|
0.00007
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00007
|
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)
|
rs934287314
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)
|
rs770593694
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser)
|
rs387906712
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)
|
rs142083484
|
0.00005
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)
|
rs774258585
|
0.00004
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930
|
0.00004
|
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)
|
rs140376902
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)
|
rs200455852
|
0.00004
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)
|
rs1449250083
|
0.00003
|
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)
|
rs768554955
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)
|
rs1482760341
|
0.00002
|
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)
|
rs757107215
|
0.00002
|
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)
|
rs121909543
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)
|
rs771621178
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002180.3(IGHMBP2):c.2784+1G>T
|
rs797044803
|
0.00002
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_006736.6(DNAJB2):c.620-1G>A
|
rs764813110
|
0.00002
|
NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr)
|
rs753862645
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)
|
rs758357594
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)
|
rs767350733
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
NM_000344.4(SMN1):c.840C>T (p.Phe280=)
|
rs1164325688
|
0.00001
|
NM_000454.5(SOD1):c.269C>T (p.Ala90Val)
|
rs1280042397
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000454.5(SOD1):c.358-10T>G
|
rs1197141604
|
0.00001
|
NM_000454.5(SOD1):c.358-11A>G
|
rs369600566
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)
|
rs750571210
|
0.00001
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)
|
rs886040888
|
0.00001
|
NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)
|
rs954539468
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773
|
0.00001
|
NM_002180.3(IGHMBP2):c.1061-2A>G
|
rs1424522130
|
0.00001
|
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
|
rs760811074
|
0.00001
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+1G>T
|
rs786205090
|
0.00001
|
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)
|
rs137852669
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+1G>C
|
rs774079947
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
|
rs776749939
|
0.00001
|
NM_003900.5(SQSTM1):c.1165+1G>A
|
rs796051870
|
0.00001
|
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)
|
rs1391182750
|
0.00001
|
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)
|
rs771966860
|
0.00001
|
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)
|
rs886039782
|
0.00001
|
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)
|
rs1185406298
|
0.00001
|
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter)
|
rs387906627
|
0.00001
|
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)
|
rs121909668
|
0.00001
|
NM_004960.4(FUS):c.616G>A (p.Gly206Ser)
|
rs387906628
|
0.00001
|
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln)
|
rs397514262
|
0.00001
|
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp)
|
rs397514263
|
0.00001
|
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)
|
rs368743618
|
0.00001
|
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)
|
rs730880025
|
0.00001
|
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)
|
rs730880026
|
0.00001
|
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter)
|
rs1182614290
|
0.00001
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)
|
rs80356730
|
0.00001
|
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)
|
rs80356732
|
0.00001
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)
|
rs1328949478
|
0.00001
|
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)
|
rs756751089
|
0.00001
|
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)
|
rs142030898
|
0.00001
|
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)
|
rs748112833
|
0.00001
|
NM_013254.4(TBK1):c.421dup (p.Ile141fs)
|
rs1565814492
|
0.00001
|
NM_013254.4(TBK1):c.992+1G>A
|
rs1341055534
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)
|
rs1443592761
|
0.00001
|
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs)
|
rs1266507622
|
0.00001
|
NM_020919.4(ALS2):c.4626+1G>A
|
rs1234882220
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)
|
rs368276916
|
0.00001
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)
|
rs879253780
|
0.00001
|
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)
|
rs1247392012
|
0.00001
|
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)
|
rs371666412
|
0.00001
|
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)
|
rs766257867
|
0.00001
|
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)
|
rs771847002
|
0.00001
|
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)
|
rs762142684
|
0.00001
|
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
|
|
|
GRCh37/hg19 5q13.2(chr5:70247768-70247821)
|
|
|
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1
|
|
|
NC_000001.11:g.(?_6467553)_(6477668_?)del
|
|
|
NC_000001.11:g.(?_6474003)_(6477668_?)del
|
|
|
NC_000005.10:g.(?_70924941)_(70966375_?)del
|
|
|
NC_000005.10:g.(?_70951912)_(70951994_?)del
|
|
|
NC_000005.10:g.(?_70951921)_(70952011_?)del
|
|
|
NC_000005.10:g.(?_70951931)_(70952001_?)del
|
|
|
NC_000005.10:g.(?_70951941)_(70951991_?)del
|
|
|
NC_000005.10:g.70946066_70946176del
|
rs1554082110
|
|
NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]
|
|
|
NC_000008.11:g.(?_18051554)_(18107050_?)del
|
|
|
NC_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
NC_000009.12:g.27573529_27573534GGCCCC[60_?]
|
|
|
NC_000010.10:g.(?_12833157)_(13178866_?)del
|
|
|
NC_000010.10:g.(?_13151123)_(13158360_?)del
|
|
|
NC_000010.10:g.(?_13151123)_(13178866_?)del
|
|
|
NC_000010.10:g.(?_13152254)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13154433)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13158247)_(13158360_?)del
|
|
|
NC_000010.10:g.(?_13164365)_(13168059_?)del
|
|
|
NC_000010.11:g.(?_13109103)_(13136886_?)del
|
|
|
NC_000010.11:g.(?_13109113)_(13112645_?)del
|
|
|
NC_000010.11:g.(?_13109123)_(13183100_?)del
|
|
|
NC_000010.11:g.(?_13116257)_(13116350_?)del
|
|
|
NC_000010.11:g.13122383AG[1]
|
rs757559365
|
|
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
|
|
|
NC_000011.9:g.(?_68671411)_(68707209_?)del
|
|
|
NC_000011.9:g.(?_68671421)_(68679091_?)del
|
|
|
NC_000011.9:g.(?_68673517)_(68682511_?)del
|
|
|
NC_000011.9:g.(?_68682271)_(68682511_?)del
|
|
|
NC_000012.11:g.(?_64849651)_(64854129_?)del
|
|
|
NC_000012.11:g.(?_64875602)_(64879817_?)del
|
|
|
NC_000014.8:g.(?_97299809)_(97327092_?)del
|
|
|
NC_000014.8:g.(?_97319158)_(97322933_?)del
|
|
|
NC_000014.8:g.(?_97326874)_(97327092_?)del
|
|
|
NC_000014.9:g.(?_96810669)_(96860745_?)del
|
|
|
NC_000014.9:g.(?_96846075)_(96847364_?)del
|
|
|
NC_000014.9:g.(?_96846085)_(96847354_?)del
|
|
|
NC_000014.9:g.(?_96856120)_(96860745_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77227268_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77258743_?)del
|
|
|
NC_000023.10:g.(?_77243718)_(77245474_?)del
|
|
|
NC_000023.10:g.(?_77264993)_(77268389_?)del
|
|
|
NC_000023.10:g.(?_77266653)_(77271398_?)dup
|
|
|
NC_000023.10:g.(?_77270139)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77271231)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77275721)_(77279056_?)del
|
|
|
NC_000023.10:g.(?_77300947)_(77302067_?)del
|
|
|
NG_008691.1:g.(32498_32055)_(33073_?)del
|
|
|
NG_031977.1:g.(5321_5338)ins(60_?)
|
rs143561967
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)
|
rs2149090269
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)
|
rs2077859082
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
NM_000052.7(ATP7A):c.3659-1G>A
|
rs2149110457
|
|
NM_000052.7(ATP7A):c.3802-1G>A
|
rs398123135
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.437del (p.Leu146fs)
|
rs2149082699
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
|
rs2149083118
|
|
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
|
|
|
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000344.3:c.*3+32_*3+33insSVA
|
|
|
NM_000344.4(SMN1):c.131A>T (p.Asp44Val)
|
rs104893931
|
|
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)
|
rs104893927
|
|
NM_000344.4(SMN1):c.291del (p.Lys97fs)
|
rs2112806309
|
|
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)
|
rs77804083
|
|
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)
|
rs104893935
|
|
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)
|
rs104893933
|
|
NM_000344.4(SMN1):c.388T>C (p.Tyr130His)
|
rs397514518
|
|
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)
|
rs397514517
|
|
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)
|
rs77668214
|
|
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)
|
rs104893934
|
|
NM_000344.4(SMN1):c.439_443del (p.Glu147fs)
|
rs75991011
|
|
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)
|
rs1580886973
|
|
NM_000344.4(SMN1):c.48_55dup (p.Val19fs)
|
rs1561498701
|
|
NM_000344.4(SMN1):c.549del (p.Lys184fs)
|
rs2112806512
|
|
NM_000344.4(SMN1):c.724-2A>G
|
rs1561500842
|
|
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del)
|
|
|
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)
|
rs1561500847
|
|
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)
|
rs104893932
|
|
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)
|
rs1554066659
|
|
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
|
|
|
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)
|
rs104893922
|
|
NM_000344.4(SMN1):c.82-2548_723+515del
|
|
|
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)
|
rs1554066666
|
|
NM_000344.4(SMN1):c.834+6T>G
|
rs2112814388
|
|
NM_000344.4(SMN1):c.835-1G>A
|
rs1217001154
|
|
NM_000344.4(SMN1):c.835-21_*3+17del
|
rs1561503058
|
|
NM_000344.4(SMN1):c.835-2A>G
|
rs141760116
|
|
NM_000344.4(SMN1):c.835-8_835-5delinsG
|
|
|
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
|
|
|
NM_000344.4(SMN1):c.836G>T (p.Gly279Val)
|
rs76163360
|
|
NM_000344.4(SMN1):c.862dup (p.Arg288fs)
|
rs1580895068
|
|
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn)
|
rs104893930
|
|
NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)
|
|
|
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)
|
rs121912431
|
|
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg)
|
rs121912431
|
|
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)
|
rs121912432
|
|
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)
|
rs121912433
|
|
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)
|
rs121912434
|
|
NM_000454.5(SOD1):c.131A>G (p.His44Arg)
|
rs121912435
|
|
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys)
|
rs121912457
|
|
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)
|
rs121912444
|
|
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)
|
rs121912444
|
|
NM_000454.5(SOD1):c.140A>G (p.His47Arg)
|
rs121912443
|
|
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
|
|
|
NM_000454.5(SOD1):c.19T>A (p.Cys7Ser)
|
rs1312702973
|
|
NM_000454.5(SOD1):c.20G>T (p.Cys7Phe)
|
rs121912448
|
|
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)
|
rs121912455
|
|
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr)
|
rs1601157750
|
|
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)
|
rs1568810316
|
|
NM_000454.5(SOD1):c.242A>G (p.His81Arg)
|
rs121912458
|
|
NM_000454.5(SOD1):c.253T>G (p.Leu85Val)
|
rs121912452
|
|
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)
|
rs1315541036
|
|
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)
|
rs121912436
|
|
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)
|
rs11556620
|
|
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr)
|
rs1568810660
|
|
NM_000454.5(SOD1):c.272A>T (p.Asp91Val)
|
|
|
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
|
|
|
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)
|
rs121912437
|
|
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys)
|
rs121912437
|
|
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)
|
rs121912438
|
|
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala)
|
rs121912438
|
|
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)
|
rs76731700
|
|
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)
|
rs121912439
|
|
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
|
|
|
NM_000454.5(SOD1):c.304G>C (p.Asp102His)
|
rs1568810715
|
|
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)
|
rs1378590183
|
|
NM_000454.5(SOD1):c.319C>G (p.Leu107Val)
|
rs121912440
|
|
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe)
|
rs121912440
|
|
NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)
|
|
|
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr)
|
rs74315452
|
|
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
|
|
|
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.352C>G (p.Leu118Val)
|
rs199474723
|
|
NM_000454.5(SOD1):c.358-304=
|
rs1555836889
|
|
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.374A>T (p.Asp125Val)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)
|
rs121912456
|
|
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter)
|
rs121912454
|
|
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
|
|
|
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
|
|
|
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn)
|
rs121912451
|
|
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
|
|
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys)
|
rs1804449
|
|
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
|
|
|
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)
|
rs121912446
|
|
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe)
|
rs1482760341
|
|
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)
|
rs121912447
|
|
NM_000454.5(SOD1):c.43G>A (p.Val15Met)
|
rs1568807400
|
|
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp)
|
rs1555836950
|
|
NM_000454.5(SOD1):c.446T>G (p.Val149Gly)
|
rs1476760624
|
|
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr)
|
rs121912449
|
|
NM_000454.5(SOD1):c.49G>A (p.Gly17Ser)
|
rs121912453
|
|
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)
|
rs1200906022
|
|
NM_000454.5(SOD1):c.62T>G (p.Phe21Cys)
|
rs1555836169
|
|
NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)
|
rs121912450
|
|
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)
|
rs1169198442
|
|
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)
|
rs2049569360
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro)
|
rs398123032
|
|
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)
|
rs398123031
|
|
NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val)
|
rs1587668798
|
|
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)
|
rs1064795760
|
|
NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)
|
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)
|
rs1587667544
|
|
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
|
|
|
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)
|
rs1131691347
|
|
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)
|
rs398123030
|
|
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)
|
rs398123028
|
|
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr)
|
rs398123029
|
|
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)
|
rs1587671674
|
|
NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg)
|
rs1564061982
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
|
|
|
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)
|
rs267606928
|
|
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
|
|
|
NM_001008212.2(OPTN):c.1217del (p.Thr406fs)
|
rs1833451208
|
|
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs)
|
rs774772178
|
|
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
|
|
|
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs)
|
rs1588449569
|
|
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
|
|
|
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)
|
rs267606929
|
|
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
|
|
|
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)
|
rs1564354968
|
|
NM_001008212.2(OPTN):c.166+349_370-945del
|
|
|
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
|
|
|
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
|
|
|
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)
|
rs140599944
|
|
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
|
|
|
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
|
|
|
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
|
|
|
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
|
|
|
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
|
|
|
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
|
|
|
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
|
|
|
NM_001008212.2(OPTN):c.76del (p.His26fs)
|
rs753966040
|
|
NM_001008212.2(OPTN):c.76dup (p.His26fs)
|
rs753966040
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs)
|
rs778911925
|
|
NM_001039550.2(DNAJB2):c.0_229+18del
|
|
|
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)
|
rs113994150
|
|
NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)
|
rs121909535
|
|
NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)
|
rs121909537
|
|
NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)
|
rs121909538
|
|
NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)
|
rs121909539
|
|
NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)
|
rs121909540
|
|
NM_001097577.3(ANG):c.409G>A (p.Val137Ile)
|
rs121909544
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)
|
|
|
NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)
|
|
|
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)
|
rs1859856446
|
|
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)
|
rs113993956
|
|
NM_001164730.2(REEP1):c.40dup (p.Arg14fs)
|
rs2104562914
|
|
NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]
|
|
|
NM_001371279.1(REEP1):c.304-2A>G
|
rs387907242
|
|
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)
|
rs387906741
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu)
|
rs387906742
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083
|
|
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys)
|
rs387906743
|
|
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu)
|
rs2141280974
|
|
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)
|
rs727505393
|
|
NM_001376.5(DYNC1H1):c.3624G>T (p.Trp1208Cys)
|
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)
|
rs886040872
|
|
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)
|
rs1971438573
|
|
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)
|
rs121908390
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.295C>A (p.Leu99Met)
|
rs121909113
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu)
|
rs28937569
|
|
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)
|
rs774585320
|
|
NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)
|
rs1371569927
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)
|
rs1584034430
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
|
|
|
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)
|
rs137852670
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
|
|
|
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)
|
rs1594445698
|
|
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)
|
rs137852668
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
|
rs780692442
|
|
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
|
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs)
|
rs777570288
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)
|
rs372181708
|
|
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
|
rs1594415353
|
|
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs)
|
rs879253865
|
|
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
|
|
|
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
|
|
|
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala)
|
rs2154008651
|
|
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)
|
rs556292818
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)
|
rs1594453111
|
|
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887
|
|
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
|
|
|
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)
|
rs1555247732
|
|
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
|
rs1311146809
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
|
|
|
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
|
|
|
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
|
|
|
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
|
|
|
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
|
rs755468547
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
|
rs1189538200
|
|
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)
|
rs1249076926
|
|
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)
|
rs750024353
|
|
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)
|
rs1373247548
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)
|
rs754422011
|
|
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
|
|
|
NM_002180.3(IGHMBP2):c.2611+1G>A
|
rs786205090
|
|
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs)
|
rs2154009273
|
|
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
|
|
|
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
|
|
|
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
|
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)
|
rs1131691657
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
|
|
|
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)
|
rs1015531394
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
|
|
|
NM_002180.3(IGHMBP2):c.449+1G>A
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+1G>T
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs)
|
rs2154006724
|
|
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
|
|
|
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
|
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
|
rs1858438320
|
|
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)
|
rs786205089
|
|
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
|
|
|
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs)
|
rs2154006948
|
|
NM_002180.3(IGHMBP2):c.711+1G>A
|
|
|
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs)
|
rs2154007211
|
|
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)
|
rs1594427564
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
|
|
|
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)
|
rs1566430156
|
|
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)
|
rs863224880
|
|
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
|
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)
|
rs80356545
|
|
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)
|
rs80356546
|
|
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)
|
rs80356547
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1135_1136del (p.Gln379fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)
|
rs765610848
|
|
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)
|
rs1758558921
|
|
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
|
|
|
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)
|
rs1254158201
|
|
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)
|
rs1247551175
|
|
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)
|
rs1425863340
|
|
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
|
|
|
NM_003900.5(SQSTM1):c.301+1G>T
|
rs2113485289
|
|
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
|
|
|
NM_003900.5(SQSTM1):c.415del (p.Arg139fs)
|
rs2113487920
|
|
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)
|
rs1331685476
|
|
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
|
|
|
NM_003900.5(SQSTM1):c.810del (p.Val271fs)
|
rs1758316662
|
|
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
|
|
|
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
|
|
|
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs)
|
rs1273214757
|
|
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
|
|
|
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
|
|
|
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
|
|
|
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
|
rs67586389
|
|
NM_004082.5(DCTN1):c.279+1G>A
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>C
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+2T>C
|
|
|
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
|
|
|
NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr)
|
rs1895599490
|
|
NM_004184.4(WARS1):c.770A>G (p.His257Arg)
|
rs770003315
|
|
NM_004184.4(WARS1):c.941A>G (p.Asp314Gly)
|
rs1894240526
|
|
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)
|
rs281875284
|
|
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)
|
rs74315431
|
|
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs)
|
rs2144138894
|
|
NM_004960.4(FUS):c.1394-1G>T
|
rs2079347087
|
|
NM_004960.4(FUS):c.1394-2del
|
rs1555509569
|
|
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
|
|
|
NM_004960.4(FUS):c.1500dup (p.Gly501fs)
|
rs2144140268
|
|
NM_004960.4(FUS):c.1509_1510del (p.Gly504fs)
|
rs1596912983
|
|
NM_004960.4(FUS):c.1509_1510dup (p.Gly504fs)
|
rs1596912983
|
|
NM_004960.4(FUS):c.1509dup (p.Gly504fs)
|
rs2079350332
|
|
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp)
|
rs267606831
|
|
NM_004960.4(FUS):c.1531dup (p.Met511fs)
|
|
|
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
|
|
|
NM_004960.4(FUS):c.1541+1G>A
|
rs2079351113
|
|
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys)
|
rs121909669
|
|
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs)
|
rs2144142389
|
|
NM_004960.4(FUS):c.1555C>T (p.Gln519Ter)
|
rs1567479067
|
|
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)
|
rs121909668
|
|
NM_004960.4(FUS):c.1562G>A (p.Arg521His)
|
rs121909671
|
|
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu)
|
rs121909671
|
|
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly)
|
rs1555509693
|
|
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp)
|
rs267606833
|
|
NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)
|
|
|
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)
|
rs886041390
|
|
NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys)
|
rs1228194239
|
|
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
|
|
|
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly)
|
rs387907264
|
|
NM_005022.4(PFN1):c.341T>C (p.Met114Thr)
|
rs387907265
|
|
NM_005022.4(PFN1):c.353G>T (p.Gly118Val)
|
rs387907266
|
|
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
|
|
|
NM_005866.4(SIGMAR1):c.13del (p.Val5fs)
|
rs1564096761
|
|
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs)
|
rs1820936580
|
|
NM_005866.4(SIGMAR1):c.151+1G>T
|
rs796065352
|
|
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs)
|
rs747285235
|
|
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter)
|
rs1564096221
|
|
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs)
|
rs780136067
|
|
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)
|
rs387906829
|
|
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)
|
|
|
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
|
|
|
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter)
|
rs1242817438
|
|
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)
|
rs730880027
|
|
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)
|
rs730880029
|
|
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)
|
rs1197928094
|
|
NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)
|
|
|
NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del)
|
rs2118840030
|
|
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)
|
rs879254294
|
|
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)
|
rs1554716504
|
|
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)
|
rs267607087
|
|
NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)
|
rs1844420892
|
|
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)
|
|
|
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)
|
rs2125081805
|
|
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140
|
|
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)
|
rs2125082259
|
|
NM_006736.6(DNAJB2):c.229+1G>A
|
rs730882139
|
|
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
|
rs1951895452
|
|
NM_007046.4(EMILIN1):c.748C>T (p.Arg250Cys)
|
|
|
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)
|
rs387906790
|
|
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)
|
rs863225291
|
|
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)
|
rs1554669087
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
|
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)
|
rs864309502
|
|
NM_007126.5(VCP):c.463C>A (p.Arg155Ser)
|
rs121909330
|
|
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)
|
rs121909330
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)
|
rs121909329
|
|
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
|
|
|
NM_007126.5(VCP):c.469G>A (p.Gly157Arg)
|
rs1554668814
|
|
NM_007126.5(VCP):c.472A>G (p.Met158Val)
|
rs1554668813
|
|
NM_007126.5(VCP):c.475C>A (p.Arg159Ser)
|
rs387906789
|
|
NM_007126.5(VCP):c.475C>G (p.Arg159Gly)
|
rs387906789
|
|
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)
|
rs387906789
|
|
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)
|
rs1554668805
|
|
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)
|
rs121909334
|
|
NM_007375.4(TARDBP):c.*697G>A
|
rs387906334
|
|
NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg)
|
rs80356731
|
|
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)
|
rs80356717
|
|
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)
|
rs267607102
|
|
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)
|
rs121908395
|
|
NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala)
|
rs80356721
|
|
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)
|
rs80356726
|
|
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys)
|
rs80356727
|
|
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)
|
|
|
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)
|
rs765106259
|
|
NM_013254.4(TBK1):c.1234del (p.Ala412fs)
|
|
|
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer)
|
rs2040816609
|
|
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)
|
|
|
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)
|
rs769588220
|
|
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)
|
rs2136079548
|
|
NM_013254.4(TBK1):c.1340+1G>A
|
rs767898276
|
|
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)
|
rs876657404
|
|
NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)
|
|
|
NM_013254.4(TBK1):c.1382dup (p.Thr462fs)
|
rs1178717934
|
|
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)
|
|
|
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs)
|
rs1555204731
|
|
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)
|
rs876657405
|
|
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)
|
|
|
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)
|
|
|
NM_013254.4(TBK1):c.1740del (p.Glu580fs)
|
rs2136087722
|
|
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs)
|
rs2040932099
|
|
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs)
|
rs2136088227
|
|
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
|
|
|
NM_013254.4(TBK1):c.1917del (p.Asp639fs)
|
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)
|
rs2136088420
|
|
NM_013254.4(TBK1):c.1956del (p.Asn652fs)
|
|
|
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs)
|
rs2136088934
|
|
NM_013254.4(TBK1):c.2138+2T>C
|
rs876657406
|
|
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)
|
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)
|
rs1027249002
|
|
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)
|
|
|
NM_013254.4(TBK1):c.519del (p.Tyr174fs)
|
|
|
NM_013254.4(TBK1):c.701+1G>A
|
rs1592362719
|
|
NM_013254.4(TBK1):c.701+2T>G
|
|
|
NM_013254.4(TBK1):c.722del (p.Lys241fs)
|
|
|
NM_013254.4(TBK1):c.72dup (p.Arg25fs)
|
rs1279619378
|
|
NM_013254.4(TBK1):c.738_739del (p.Ser247fs)
|
|
|
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)
|
|
|
NM_013254.4(TBK1):c.86dup (p.Lys30fs)
|
rs1592350883
|
|
NM_013254.4(TBK1):c.87G>A (p.Lys29=)
|
rs1592350887
|
|
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)
|
rs1284582102
|
|
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
|
|
|
NM_013254.4(TBK1):c.958del (p.Thr320fs)
|
rs755950225
|
|
NM_013437.5:c.-102CGG[(90_?)]
|
|
|
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser)
|
rs387906710
|
|
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu)
|
rs387906709
|
|
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr)
|
rs387906711
|
|
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr)
|
rs1360902821
|
|
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)
|
rs281864934
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)
|
rs63750355
|
|
NM_014043.4(CHMP2B):c.532-1G>C
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
|
rs63751126
|
|
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)
|
rs104894351
|
|
NM_014365.3(HSPB8):c.423G>C (p.Lys141Asn)
|
rs104894345
|
|
NM_014845.6(FIG4):c.1049C>T (p.Ala350Val)
|
|
|
NM_014845.6(FIG4):c.1150del (p.Arg384fs)
|
rs1583695322
|
|
NM_014845.6(FIG4):c.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)
|
rs121908290
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
|
|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)
|
rs770684782
|
|
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)
|
rs121434378
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)
|
rs773876739
|
|
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu)
|
rs1025711998
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
|
rs1644626732
|
|
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
|
rs1644591704
|
|
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
|
|
|
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
|
|
|
NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)
|
rs1435710212
|
|
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
|
rs1644550472
|
|
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
|
rs1644549927
|
|
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
|
|
|
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
|
|
|
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
|
rs760122001
|
|
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
|
rs1644525008
|
|
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)
|
rs63750315
|
|
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs)
|
rs2148578668
|
|
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
|
|
|
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)
|
rs184242303
|
|
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
|
|
|
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
|
|
|
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs)
|
rs759212541
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
|
|
|
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
|
|
|
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
|
|
|
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
|
|
|
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
|
|
|
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
|
|
|
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
|
|
|
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
|
|
|
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
|
|
|
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs)
|
rs2148591365
|
|
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
|
|
|
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)
|
rs1569875704
|
|
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs)
|
rs1553175760
|
|
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
|
rs1644651573
|
|
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)
|
rs376900021
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)
|
rs369577952
|
|
NM_020919.4(ALS2):c.138del (p.Ala47fs)
|
rs386134173
|
|
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)
|
rs730882255
|
|
NM_020919.4(ALS2):c.2580+2T>C
|
rs2106023727
|
|
NM_020919.4(ALS2):c.2707dup (p.Met903fs)
|
rs2106012637
|
|
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)
|
rs587777132
|
|
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)
|
rs757972700
|
|
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter)
|
rs2105972075
|
|
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)
|
rs1689931402
|
|
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)
|
rs374047961
|
|
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)
|
rs730882256
|
|
NM_020919.4(ALS2):c.553del (p.Thr185fs)
|
rs386134174
|
|
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
|
rs267607149
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021815.5(SLC5A7):c.1497del (p.Lys499fs)
|
rs1558872865
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)
|
rs1226110412
|
|
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
NM_025137.4(SPG11):c.2250del (p.Phe750fs)
|
rs2083790483
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
|
|
|
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)
|
rs730880294
|
|
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)
|
rs2054534882
|
|
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg)
|
rs886037739
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn)
|
rs397518453
|
|
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)
|
rs730882223
|
|
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)
|
rs879253779
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)
|
rs754594235
|
|
NM_177924.5(ASAH1):c.125+1G>A
|
rs1588999312
|
|
NM_177924.5(ASAH1):c.223_224insC (p.Val75fs)
|
rs1588990194
|
|
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
|
rs966267709
|
|
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)
|
rs1588978873
|
|
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe)
|
rs1588978684
|
|
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)
|
rs886039750
|
|
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)
|
rs794729663
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)
|
rs2076486420
|
|
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)
|
rs775935265
|
|
NM_205836.3(FBXO38):c.2215C>A (p.Pro739Thr)
|
|
|
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg)
|
rs398122838
|
|
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)
|
rs797046054
|
|
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)
|
rs797046055
|
|
NM_207346.3(TSEN54):c.823del (p.Val275fs)
|
rs797046057
|
|
NM_207346.3(TSEN54):c.940del (p.Leu314fs)
|
rs1012275384
|
|
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)
|
rs587777574
|
|
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)
|
rs730880031
|
|
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
|
rs730880030
|
|
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)
|
rs2145927350
|
|