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_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys)
|
rs144311212
|
0.00011
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
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_001097577.3(ANG):c.407C>T (p.Pro136Leu)
|
rs121909543
|
0.00002
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000454.5(SOD1):c.358G>C (p.Val120Leu)
|
rs1457889952
|
0.00001
|
NM_001008212.2(OPTN):c.1149-2A>G
|
rs867368757
|
0.00001
|
NM_001008212.2(OPTN):c.626+1G>A
|
rs756957223
|
0.00001
|
NM_001008212.2(OPTN):c.780-2A>C
|
rs768117011
|
0.00001
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)
|
rs766653950
|
0.00001
|
NM_006262.4(PRPH):c.607-1G>A
|
rs781660354
|
0.00001
|
NM_007126.5(VCP):c.278G>A (p.Arg93His)
|
rs779959657
|
0.00001
|
NM_007126.5(VCP):c.284G>A (p.Arg95His)
|
rs758169026
|
0.00001
|
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)
|
rs80356719
|
0.00001
|
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)
|
rs80356725
|
0.00001
|
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu)
|
rs763131369
|
0.00001
|
NC_000010.10:g.(?_13152353)_(13162081_?)del
|
|
|
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)
|
rs121912432
|
|
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
|
|
|
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)
|
rs1568809149
|
|
NM_000454.5(SOD1):c.143T>C (p.Val48Ala)
|
rs1568809169
|
|
NM_000454.5(SOD1):c.146A>G (p.His49Arg)
|
rs1568809172
|
|
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
|
|
|
NM_000454.5(SOD1):c.19T>G (p.Cys7Gly)
|
rs1312702973
|
|
NM_000454.5(SOD1):c.205T>C (p.Ser69Pro)
|
rs2049594204
|
|
NM_000454.5(SOD1):c.214C>T (p.His72Tyr)
|
rs2049594311
|
|
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)
|
rs121912455
|
|
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)
|
rs1568810316
|
|
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
|
|
|
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)
|
rs121912436
|
|
NM_000454.5(SOD1):c.262G>A (p.Val88Met)
|
rs1568810641
|
|
NM_000454.5(SOD1):c.263T>C (p.Val88Ala)
|
rs1339283341
|
|
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)
|
rs121912437
|
|
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
|
|
|
NM_000454.5(SOD1):c.290A>T (p.Asp97Val)
|
rs1555836803
|
|
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
|
|
|
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
|
|
|
NM_000454.5(SOD1):c.34G>T (p.Asp12Tyr)
|
|
|
NM_000454.5(SOD1):c.352C>G (p.Leu118Val)
|
rs199474723
|
|
NM_000454.5(SOD1):c.376G>A (p.Asp126Asn)
|
rs1568811372
|
|
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala)
|
rs1164911383
|
|
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)
|
rs121912456
|
|
NM_000454.5(SOD1):c.396T>G (p.Asn132Lys)
|
rs1027128618
|
|
NM_000454.5(SOD1):c.400G>A (p.Glu134Lys)
|
rs2049618449
|
|
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
|
|
|
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala)
|
rs1568811445
|
|
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
|
|
|
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)
|
rs121912447
|
|
NM_000454.5(SOD1):c.437C>T (p.Ala146Val)
|
rs1131690781
|
|
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
|
|
|
NM_000454.5(SOD1):c.43G>A (p.Val15Met)
|
rs1568807400
|
|
NM_000454.5(SOD1):c.43G>C (p.Val15Leu)
|
rs1568807400
|
|
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
|
|
|
NM_000454.5(SOD1):c.446T>G (p.Val149Gly)
|
rs1476760624
|
|
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)
|
rs1424014997
|
|
NM_000454.5(SOD1):c.44T>G (p.Val15Gly)
|
rs1202989817
|
|
NM_000454.5(SOD1):c.49G>T (p.Gly17Cys)
|
rs121912453
|
|
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu)
|
rs1555836170
|
|
NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)
|
|
|
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)
|
rs1169198442
|
|
NM_000454.5(SOD1):c.69G>C (p.Gln23His)
|
rs1424217272
|
|
NM_000454.5(SOD1):c.95T>C (p.Val32Ala)
|
rs1428716759
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro)
|
rs2131520977
|
|
NM_001008212.2(OPTN):c.1401+1G>A
|
rs1370982012
|
|
NM_001008212.2(OPTN):c.369+2T>C
|
|
|
NM_001008212.2(OPTN):c.370-1G>A
|
rs2131488754
|
|
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
|
|
|
NM_001008212.2(OPTN):c.780-1G>C
|
rs759311192
|
|
NM_001008212.2(OPTN):c.875dup (p.Glu293fs)
|
rs1833371664
|
|
NM_001008212.2(OPTN):c.882+2_882+3del
|
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001080421.3(UNC13A):c.1668C>A (p.Phe556Leu)
|
|
|
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer)
|
rs1758359961
|
|
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
|
|
|
NM_004960.4(FUS):c.1468dup (p.Asp490fs)
|
|
|
NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)
|
|
|
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)
|
rs1555509609
|
|
NM_004960.4(FUS):c.1542-1G>C
|
rs1596914113
|
|
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu)
|
rs121909671
|
|
NM_004960.4(FUS):c.1571G>T (p.Arg524Met)
|
rs544088874
|
|
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1])
|
rs747579808
|
|
NM_005022.4(PFN1):c.318_319dup (p.Asp107fs)
|
rs2151134645
|
|
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)
|
rs1574867228
|
|
NM_007126.5(VCP):c.273C>A (p.Asn91Lys)
|
rs1563980966
|
|
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)
|
|
|
NM_007126.5(VCP):c.284G>C (p.Arg95Pro)
|
rs758169026
|
|
NM_007126.5(VCP):c.374G>A (p.Gly125Asp)
|
rs1563980403
|
|
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)
|
|
|
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)
|
rs121909330
|
|
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)
|
rs121909330
|
|
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)
|
rs387906789
|
|
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)
|
rs864309501
|
|
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)
|
rs121909334
|
|
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
|
|
|
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.1060C>G (p.Gln354Glu)
|
rs1643659556
|
|
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)
|
|
|
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)
|
rs1557660662
|
|
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)
|
|
|
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)
|
rs797044594
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)
|
rs1643653768
|
|
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)
|
rs1304706298
|
|
NM_014845.6(FIG4):c.2376+2T>G
|
rs756308787
|
|
NM_014845.6(FIG4):c.647-2_647-1insG
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|