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_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
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_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser)
|
rs397518454
|
0.00009
|
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)
|
rs778264897
|
0.00007
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
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.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_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
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_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)
|
rs768554955
|
0.00003
|
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_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
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_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_000454.5(SOD1):c.358-10T>G
|
rs1197141604
|
0.00001
|
NM_000454.5(SOD1):c.358-11A>G
|
rs369600566
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
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_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.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+1G>T
|
rs786205090
|
0.00001
|
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)
|
rs137852669
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
|
rs776749939
|
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_007375.4(TARDBP):c.1009A>G (p.Met337Val)
|
rs80356730
|
0.00001
|
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)
|
rs756751089
|
0.00001
|
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)
|
rs748112833
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
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_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.5974C>T (p.Arg1992Ter)
|
rs200793464
|
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
|
NC_000005.10:g.(?_70924941)_(70966375_?)del
|
|
|
NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]
|
|
|
NC_000008.11:g.(?_18051554)_(18107050_?)del
|
|
|
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
|
|
|
NG_008691.1:g.(32498_32055)_(33073_?)del
|
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
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.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.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.815A>G (p.Tyr272Cys)
|
rs104893922
|
|
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)
|
rs1554066666
|
|
NM_000344.4(SMN1):c.834+6T>G
|
rs2112814388
|
|
NM_000344.4(SMN1):c.836G>T (p.Gly279Val)
|
rs76163360
|
|
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn)
|
rs104893930
|
|
NM_000454.5(SOD1):c.112G>A (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.140A>G (p.His47Arg)
|
rs121912443
|
|
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.242A>G (p.His81Arg)
|
rs121912458
|
|
NM_000454.5(SOD1):c.253T>G (p.Leu85Val)
|
rs121912452
|
|
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)
|
rs121912436
|
|
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>C (p.Gly94Ala)
|
rs121912438
|
|
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)
|
rs121912439
|
|
NM_000454.5(SOD1):c.319C>G (p.Leu107Val)
|
rs121912440
|
|
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr)
|
rs74315452
|
|
NM_000454.5(SOD1):c.358-304=
|
rs1555836889
|
|
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.404G>A (p.Ser135Asn)
|
rs121912451
|
|
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)
|
rs121912446
|
|
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)
|
rs121912447
|
|
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.64G>A (p.Glu22Lys)
|
rs121912450
|
|
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)
|
rs2049569360
|
|
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.1636_1638del (p.Asn546del)
|
rs1064795760
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
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.581A>G (p.Gln194Arg)
|
rs1564061982
|
|
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)
|
rs267606928
|
|
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)
|
rs267606929
|
|
NM_001008212.2(OPTN):c.166+349_370-945del
|
|
|
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_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_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.2011A>G (p.Lys671Glu)
|
rs387906742
|
|
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys)
|
rs387906743
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)
|
rs1971438573
|
|
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_001761.3(CCNF):c.585T>G (p.Ser195Arg)
|
rs1371569927
|
|
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_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)
|
rs137852670
|
|
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)
|
rs137852668
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)
|
rs786205089
|
|
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_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)
|
rs121909342
|
|
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.1520G>A (p.Gly507Asp)
|
rs267606831
|
|
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys)
|
rs121909669
|
|
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.1570A>T (p.Arg524Trp)
|
rs267606833
|
|
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.151+1G>T
|
rs796065352
|
|
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)
|
rs387906829
|
|
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_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140
|
|
NM_006736.6(DNAJB2):c.229+1G>A
|
rs730882139
|
|
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.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007126.5(VCP):c.475C>A (p.Arg159Ser)
|
rs387906789
|
|
NM_007126.5(VCP):c.475C>G (p.Arg159Gly)
|
rs387906789
|
|
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.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.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.1340+1G>A
|
rs767898276
|
|
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)
|
rs876657404
|
|
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)
|
rs876657405
|
|
NM_013254.4(TBK1):c.2138+2T>C
|
rs876657406
|
|
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_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.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)
|
rs121908290
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)
|
rs121434378
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)
|
rs773876739
|
|
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.1940T>C (p.Phe647Ser)
|
rs63750315
|
|
NM_020919.4(ALS2):c.138del (p.Ala47fs)
|
rs386134173
|
|
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)
|
rs730882255
|
|
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)
|
rs730882256
|
|
NM_020919.4(ALS2):c.553del (p.Thr185fs)
|
rs386134174
|
|
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.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)
|
rs730880294
|
|
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_145868.2(ANXA11):c.523G>A (p.Gly175Arg)
|
rs754594235
|
|
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)
|
rs794729663
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg)
|
rs398122838
|
|
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)
|
rs587777574
|
|
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)
|
rs730880031
|
|