ClinVar Miner

List of variants studied for behavioral variant of frontotemporal dementia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 770
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HGVS dbSNP gnomAD frequency
NM_004960.3(FUS):c.*1476T>C rs11860134 0.98998
NM_004960.4(FUS):c.-54A>G rs929867 0.95117
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_006610.4(MASP2):c.*225T>C rs1033638 0.69325
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_199189.2(MATR3):c.-610C>G rs11242456 0.53822
NM_018834.6(MATR3):c.*1288T>G rs10515507 0.51394
NM_018834.6(MATR3):c.*672G>A rs7305 0.50625
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_004738.5(VAPB):c.*5250T>C rs6015274 0.49186
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_021980.4(OPTN):c.-161T>C rs71492279 0.36888
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_004960.3(FUS):c.*770G>C rs4889537 0.24493
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_014043.4(CHMP2B):c.*1589G>A rs1060241 0.22762
NM_004738.5(VAPB):c.*5298C>T rs6015275 0.22495
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_007126.5(VCP):c.*153G>T rs1053318 0.19091
NM_001008212.2(OPTN):c.-215G>A rs11548142 0.18691
NM_004738.5(VAPB):c.*4271A>G rs4549163 0.15908
NM_004738.5(VAPB):c.*1282A>G rs1802459 0.15337
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_004738.5(VAPB):c.*937G>C rs1059794 0.11399
NM_001145.4(ANG):c.-332C>A rs28589501 0.10899
NM_004738.5(VAPB):c.*4520T>C rs763514 0.10837
NM_004738.5(VAPB):c.*1265G>C rs7400 0.09272
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_004738.5(VAPB):c.*2819A>G rs74568509 0.08036
NM_004738.5(VAPB):c.*4446G>A rs79623348 0.06497
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_004960.3(FUS):c.*1803C>T rs16956408 0.06040
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_004738.5(VAPB):c.*4868C>T rs74748993 0.05916
NM_004738.5(VAPB):c.*4052C>T rs76295834 0.05914
NM_018834.6(MATR3):c.*1259G>C rs62381613 0.04668
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_018834.6(MATR3):c.*177A>G rs13698 0.03913
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_018834.6(MATR3):c.*708T>C rs14109 0.03387
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_004960.3(FUS):c.*491T>G rs73530293 0.03268
NM_004960.3(FUS):c.*2486G>A rs73530298 0.03248
NM_004960.3(FUS):c.*2794G>C rs17839571 0.03244
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_018834.6(MATR3):c.*1076T>C rs2015602 0.02638
NM_004960.3(FUS):c.*910C>T rs118018900 0.02606
NM_001145.4(ANG):c.-530T>C rs117053048 0.02510
NM_001145.4(ANG):c.-579G>C rs117466368 0.02509
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_001145.4(ANG):c.-401G>T rs45591635 0.02505
NM_002937.5(RNASE4):c.-40T>C rs117978329 0.02505
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_007126.5(VCP):c.*596C>T rs55745923 0.02117
NM_004960.3(FUS):c.*2393T>A rs541197027 0.01834
NM_001145.4(ANG):c.-534C>T rs117787610 0.01793
NM_018834.6(MATR3):c.*1278T>C rs116341961 0.01780
NM_004960.3(FUS):c.*989C>T rs114772555 0.01702
NM_004738.5(VAPB):c.*4952C>T rs116665485 0.01608
NM_004960.3(FUS):c.*1420C>T rs73530295 0.01500
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_018834.6(MATR3):c.*1535A>G rs111689401 0.01322
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_001008212.2(OPTN):c.*269C>T rs111484304 0.01294
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_004960.4(FUS):c.-39A>G rs67676356 0.01242
NM_014043.4(CHMP2B):c.-102C>T rs36098294 0.01237
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_001008212.2(OPTN):c.-255C>G rs2580915 0.01192
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_004738.5(VAPB):c.*6182C>T rs76708676 0.01132
NM_018834.6(MATR3):c.*1425C>G rs145516036 0.01098
NM_014043.4(CHMP2B):c.*231T>C rs17189270 0.01035
NM_014043.4(CHMP2B):c.-151C>A rs77328592 0.01035
NM_007126.5(VCP):c.*906A>G rs76360394 0.00965
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_004960.3(FUS):c.*626G>A rs115626460 0.00863
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_004738.5(VAPB):c.*6088C>T rs147304840 0.00734
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_004738.5(VAPB):c.*753C>G rs6070466 0.00707
NM_001008212.2(OPTN):c.*562T>G rs148646641 0.00706
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014043.4(CHMP2B):c.*1588C>T rs11426 0.00691
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_018834.6(MATR3):c.*1482A>T rs79616595 0.00669
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_018834.6(MATR3):c.*1087G>C rs116660718 0.00535
NM_004738.5(VAPB):c.*1641G>A rs116584680 0.00529
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274 0.00525
NM_004738.5(VAPB):c.*6619G>A rs79091887 0.00520
NM_000454.5(SOD1):c.-48T>A rs142752986 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_004960.3(FUS):c.*1148A>T rs140326191 0.00506
NM_004960.3(FUS):c.*2443A>G rs189787862 0.00503
NM_004738.5(VAPB):c.*995T>G rs76895132 0.00501
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_018834.6(MATR3):c.*275C>T rs187985845 0.00426
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_018834.6(MATR3):c.*496C>T rs140707719 0.00411
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_018834.6(MATR3):c.*747G>C rs181792838 0.00392
NM_004960.3(FUS):c.*214C>T rs140875749 0.00361
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_004738.5(VAPB):c.*3118C>T rs56310716 0.00306
NM_004738.5(VAPB):c.*467G>A rs141496875 0.00301
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_018834.6(MATR3):c.*313A>G rs180806333 0.00300
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_000454.5(SOD1):c.*339C>T rs17880487 0.00263
NM_004960.3(FUS):c.*2988C>T rs73530301 0.00254
NM_007126.5(VCP):c.-267C>T rs184152880 0.00252
NM_000454.5(SOD1):c.*2C>T rs1804447 0.00251
NM_004738.5(VAPB):c.*375C>G rs540854828 0.00247
NM_014043.4(CHMP2B):c.*1255G>T rs144167614 0.00241
NM_004738.5(VAPB):c.*4559A>G rs73296848 0.00228
NM_018834.6(MATR3):c.*1394G>A rs572983701 0.00217
NM_004738.5(VAPB):c.*5095T>G rs143424619 0.00210
NM_004738.5(VAPB):c.*4327A>G rs183197400 0.00208
NM_000454.5(SOD1):c.*153T>G rs188029963 0.00203
NM_004960.3(FUS):c.*687G>A rs549602004 0.00193
NM_004738.5(VAPB):c.*1773G>A rs75999456 0.00188
NM_004738.5(VAPB):c.*2671A>G rs115191022 0.00183
NM_004738.5(VAPB):c.*3968C>T rs149967447 0.00183
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_007126.5(VCP):c.*1040T>C rs188935092 0.00171
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_007375.4(TARDBP):c.*1622A>T rs551513393 0.00167
NM_004738.5(VAPB):c.*2320T>A rs181028077 0.00163
NM_004738.5(VAPB):c.*4072C>T rs190652187 0.00163
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_004738.5(VAPB):c.*3566A>T rs114038495 0.00142
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_004738.5(VAPB):c.*1413C>G rs190582293 0.00139
NM_001008212.2(OPTN):c.*1063C>A rs530046832 0.00131
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_004738.5(VAPB):c.*5790G>A rs192046748 0.00126
NM_001145.4(ANG):c.-383C>G rs113950902 0.00124
NM_014043.4(CHMP2B):c.*1610C>T rs191312397 0.00124
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004738.5(VAPB):c.*3274C>T rs553170533 0.00122
NM_004738.5(VAPB):c.*6578T>G rs115932469 0.00121
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_199189.3(MATR3):c.-247C>T rs141402332 0.00112
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_018834.6(MATR3):c.*1767C>T rs181125183 0.00104
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_004738.5(VAPB):c.*75G>A rs138521885 0.00098
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004738.5(VAPB):c.*3822C>G rs150825395 0.00093
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001008212.2(OPTN):c.-250C>A rs886046818 0.00088
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_004738.5(VAPB):c.*3725T>C rs574293455 0.00083
NM_004738.5(VAPB):c.*726A>G rs560832981 0.00083
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_001008212.2(OPTN):c.*461G>A rs541250740 0.00081
NM_004960.4(FUS):c.-47G>A rs72550864 0.00081
NM_014043.4(CHMP2B):c.*864G>A rs181777395 0.00079
NM_001145.4(ANG):c.-423C>T rs149147430 0.00078
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_004738.5(VAPB):c.*2224C>T rs189009703 0.00073
NM_007375.4(TARDBP):c.*343G>A rs555353123 0.00073
NM_004960.3(FUS):c.*721A>G rs558776704 0.00071
NM_018834.6(MATR3):c.*769G>A rs561705958 0.00070
NM_004738.4(VAPB):c.-292G>C rs2234484 0.00067
NM_004738.5(VAPB):c.*2766C>T rs6128346 0.00064
NM_004738.5(VAPB):c.*2850T>C rs777977641 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_004738.5(VAPB):c.-137C>T rs542349554 0.00062
NM_004738.5(VAPB):c.*1347A>G rs192710529 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
NM_001008212.2(OPTN):c.*1285T>C rs560947786 0.00057
NM_018834.6(MATR3):c.*1757T>C rs191196444 0.00057
NM_004960.4(FUS):c.198T>C (p.Tyr66=) rs144853447 0.00056
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_014043.4(CHMP2B):c.*1408A>G rs183429826 0.00055
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_004738.5(VAPB):c.*3020A>G rs570716807 0.00053
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_007375.4(TARDBP):c.*1081C>T rs184303021 0.00053
NM_199189.2(MATR3):c.-649C>T rs779721416 0.00053
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_014043.4(CHMP2B):c.*744C>A rs185167991 0.00048
NM_018834.6(MATR3):c.*2054T>A rs116278472 0.00047
NM_007375.4(TARDBP):c.*2154G>T rs886045048 0.00046
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_007126.5(VCP):c.*367G>A rs768675930 0.00043
NM_018834.6(MATR3):c.*2200C>T rs770043950 0.00043
NM_004738.5(VAPB):c.*1050G>A rs551974797 0.00041
NM_004960.3(FUS):c.*3231T>C rs193018950 0.00041
NM_004738.5(VAPB):c.*4862A>G rs143395644 0.00040
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_004738.4(VAPB):c.-322G>C rs746837253 0.00039
NM_000454.4(SOD1):c.-83T>C rs377427683 0.00038
NM_004738.5(VAPB):c.*3001T>G rs551260354 0.00036
NM_004738.5(VAPB):c.*596C>T rs118055109 0.00036
NM_007126.5(VCP):c.*700C>A rs537730311 0.00035
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_007375.4(TARDBP):c.*666G>A rs778834503 0.00032
NM_007375.4(TARDBP):c.*2773A>G rs187380325 0.00031
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) rs148750997 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_004738.5(VAPB):c.*3315A>G rs772298515 0.00027
NM_004738.5(VAPB):c.*5005T>A rs146687585 0.00027
NM_004738.5(VAPB):c.*5769G>A rs150490845 0.00026
NM_004738.5(VAPB):c.-166G>A rs553588236 0.00026
NM_004960.3(FUS):c.*1034C>T rs181164144 0.00026
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_004738.5(VAPB):c.*3805G>C rs561048421 0.00025
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_004738.5(VAPB):c.*5283C>T rs747799775 0.00024
NM_004960.3(FUS):c.*1451A>G rs960906406 0.00024
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_007375.4(TARDBP):c.*2740G>A rs566658679 0.00024
NM_014043.4(CHMP2B):c.*1647A>G rs534772903 0.00024
NM_004738.5(VAPB):c.*2592G>A rs143902869 0.00023
NM_004738.5(VAPB):c.*3764C>T rs376626781 0.00023
NM_007126.5(VCP):c.-250C>T rs886063894 0.00023
NM_004738.5(VAPB):c.*1800A>G rs564187580 0.00022
NM_004738.5(VAPB):c.*6404C>T rs774485714 0.00022
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_004738.5(VAPB):c.*3643G>C rs554314719 0.00021
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00021
NM_007375.4(TARDBP):c.*670T>C rs745611651 0.00021
NM_001097577.3(ANG):c.3G>A (p.Met1Ile) rs201068740 0.00020
NM_001145.4(ANG):c.-524G>A rs886050395 0.00020
NM_004738.5(VAPB):c.*2012G>A rs1000867664 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NM_007375.4(TARDBP):c.*214T>C rs557787340 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_001008212.2(OPTN):c.*1385T>C rs546352206 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_004960.3(FUS):c.*2299A>C rs774311328 0.00016
NM_007375.4(TARDBP):c.*2823T>C rs961126665 0.00016
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_014845.6(FIG4):c.-138T>C rs550585093 0.00016
NM_004738.5(VAPB):c.*3738A>C rs766693591 0.00015
NM_004960.3(FUS):c.*1834A>G rs758999415 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_004738.5(VAPB):c.*1335C>T rs187441988 0.00014
NM_004738.5(VAPB):c.*3192T>C rs545089397 0.00014
NM_004960.3(FUS):c.*1750C>T rs191806441 0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_004738.4(VAPB):c.-283A>C rs886056804 0.00013
NM_004738.5(VAPB):c.*5851C>A rs772661395 0.00013
NM_007126.5(VCP):c.*347C>T rs886063888 0.00013
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_014845.6(FIG4):c.-84A>G rs764845399 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_004960.3(FUS):c.*1581T>C rs751331525 0.00012
NM_014043.4(CHMP2B):c.*836T>C rs189927047 0.00012
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_000454.5(SOD1):c.*317T>C rs191345676 0.00011
NM_004738.5(VAPB):c.*2748A>C rs368079533 0.00011
NM_004960.3(FUS):c.*2851T>C rs745882198 0.00011
NM_007126.5(VCP):c.*382C>T rs749381324 0.00011
NM_007126.5(VCP):c.-215A>G rs886063893 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_018834.6(MATR3):c.*2174C>T rs775200100 0.00011
NM_004960.3(FUS):c.*1843G>A rs886051951 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_013444.4(UBQLN2):c.-163G>T rs192883799 0.00010
NM_014043.4(CHMP2B):c.*718C>T rs918982067 0.00010
NM_000454.5(SOD1):c.-26A>G rs571199057 0.00009
NM_004738.5(VAPB):c.*4394C>T rs1042545830 0.00009
NM_004738.5(VAPB):c.*5771T>G rs746524529 0.00009
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) rs144718603 0.00009
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_014043.4(CHMP2B):c.*1421C>T rs1016915311 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_018834.6(MATR3):c.*857C>T rs745417770 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_199189.3(MATR3):c.-422C>T rs751398373 0.00009
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_014845.6(FIG4):c.-112G>A rs757848529 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_004960.3(FUS):c.*1610C>T rs538629605 0.00007
NM_004960.3(FUS):c.*2314C>G rs768611402 0.00007
NM_007375.4(TARDBP):c.*663C>T rs1401373740 0.00007
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_001008212.2(OPTN):c.*218G>C rs886046824 0.00006
NM_001008212.2(OPTN):c.*413G>A rs886046825 0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_004738.5(VAPB):c.*348C>T rs182950622 0.00006
NM_004738.5(VAPB):c.*4265G>A rs780267648 0.00006
NM_004738.5(VAPB):c.*480T>C rs1037475892 0.00006
NM_004738.5(VAPB):c.*4923A>G rs776329339 0.00006
NM_004738.5(VAPB):c.*774G>A rs138920779 0.00006
NM_004960.3(FUS):c.*1014G>A rs933525513 0.00006
NM_004960.3(FUS):c.*2259G>C rs886051954 0.00006
NM_007126.5(VCP):c.*172C>G rs886063890 0.00006
NM_007126.5(VCP):c.*217G>T rs981870646 0.00006
NM_007126.5(VCP):c.*64C>T rs553370942 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_014043.4(CHMP2B):c.*1516C>T rs1024508536 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_018834.6(MATR3):c.*2241A>G rs886060006 0.00006
NM_018834.6(MATR3):c.*406A>G rs185734839 0.00006
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_001008212.2(OPTN):c.*1089G>A rs758812707 0.00005
NM_001008212.2(OPTN):c.-172G>A rs1453573477 0.00005
NM_004738.5(VAPB):c.*382G>A rs968333452 0.00005
NM_004738.5(VAPB):c.-189C>T rs886056807 0.00005
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) rs752091117 0.00005
NM_004960.3(FUS):c.-118G>A rs763010069 0.00005
NM_007126.4(VCP):c.-370G>A rs886063895 0.00005
NM_007126.5(VCP):c.*63G>A rs969638105 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_001008212.2(OPTN):c.*1251C>G rs542617940 0.00004
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_004738.5(VAPB):c.*2733G>A rs533186435 0.00004
NM_004738.5(VAPB):c.*3305C>G rs747662615 0.00004
NM_004738.5(VAPB):c.*5145T>C rs79674150 0.00004
NM_004738.5(VAPB):c.*5453C>T rs1268822756 0.00004
NM_004738.5(VAPB):c.*6087A>G rs1429161682 0.00004
NM_004738.5(VAPB):c.*884A>G rs3746398 0.00004
NM_004960.3(FUS):c.*1081T>G rs769920119 0.00004
NM_004960.3(FUS):c.*1883T>C rs549012470 0.00004
NM_004960.3(FUS):c.*2884A>T rs554281103 0.00004
NM_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007126.5(VCP):c.*438A>G rs137953487 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_018834.6(MATR3):c.*2098A>G rs774066454 0.00004
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
NM_000454.4(SOD1):c.-84C>G rs573544165 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His) rs201896586 0.00003
NM_004738.5(VAPB):c.*1295T>C rs754082863 0.00003
NM_004738.5(VAPB):c.*3701C>T rs372302350 0.00003
NM_004738.5(VAPB):c.*5352C>T rs886056828 0.00003
NM_004738.5(VAPB):c.*624C>T rs551924874 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_004960.3(FUS):c.*1580A>G rs886051946 0.00003
NM_004960.3(FUS):c.*1601C>T rs886051947 0.00003
NM_004960.3(FUS):c.*1614T>G rs750030096 0.00003
NM_004960.3(FUS):c.*1650C>T rs886051948 0.00003
NM_004960.3(FUS):c.*1942G>A rs886051953 0.00003
NM_004960.3(FUS):c.*196C>T rs886051938 0.00003
NM_004960.3(FUS):c.*852A>G rs766638312 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_007126.5(VCP):c.384T>C (p.Gly128=) rs367703031 0.00003
NM_007375.3(TARDBP):c.-117G>A rs886045031 0.00003
NM_007375.3(TARDBP):c.-126G>T rs886045030 0.00003
NM_007375.4(TARDBP):c.*129T>C rs886045036 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 0.00003
NM_007375.4(TARDBP):c.*2749T>C rs1028236461 0.00003
NM_007375.4(TARDBP):c.*306C>T rs1034083151 0.00003
NM_007375.4(TARDBP):c.*73G>C rs185638796 0.00003
NM_007375.4(TARDBP):c.*963C>T rs751628760 0.00003
NM_014043.4(CHMP2B):c.*1071A>G rs544589377 0.00003
NM_014845.5(FIG4):c.-152C>A rs1408966015 0.00003
NM_014845.6(FIG4):c.243A>G (p.Lys81=) rs200257799 0.00003
NM_014845.6(FIG4):c.2547-11A>G rs745613994 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_018834.6(MATR3):c.*1239A>G rs746298588 0.00003
NM_018834.6(MATR3):c.*2171C>T rs886060004 0.00003
NM_018834.6(MATR3):c.*2222G>T rs886060005 0.00003
NM_018834.6(MATR3):c.*587A>G rs535027907 0.00003
NM_018834.6(MATR3):c.*770A>G rs886059996 0.00003
NM_018834.6(MATR3):c.2494-14C>A rs779597861 0.00003
NM_199189.2(MATR3):c.-643A>G rs765907489 0.00003
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_001097577.3(ANG):c.62C>T (p.Pro21Leu) rs773237991 0.00002
NM_002937.5(RNASE4):c.-167A>G rs374332721 0.00002
NM_004738.5(VAPB):c.*1563G>C rs1049373137 0.00002
NM_004738.5(VAPB):c.*172A>C rs757709521 0.00002
NM_004738.5(VAPB):c.*2885G>C rs578172184 0.00002
NM_004738.5(VAPB):c.*3134G>T rs886056818 0.00002
NM_004738.5(VAPB):c.*3493G>A rs764048379 0.00002
NM_004738.5(VAPB):c.*436C>T rs966052820 0.00002
NM_004738.5(VAPB):c.*5832G>A rs886056833 0.00002
NM_004960.3(FUS):c.*1067G>C rs1170967009 0.00002
NM_004960.3(FUS):c.*1225C>T rs1183381896 0.00002
NM_004960.3(FUS):c.*1587G>A rs1446005747 0.00002
NM_004960.3(FUS):c.*1593C>T rs577955571 0.00002
NM_004960.3(FUS):c.*2288C>T rs1418881668 0.00002
NM_004960.3(FUS):c.*3174T>G rs3764324 0.00002
NM_004960.3(FUS):c.*3226G>A rs1004430396 0.00002
NM_004960.3(FUS):c.*356G>A rs886051940 0.00002
NM_004960.4(FUS):c.*10C>T rs529269129 0.00002
NM_004960.4(FUS):c.443G>C (p.Ser148Thr) rs773655049 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_007375.4(TARDBP):c.*1795A>G rs886045044 0.00002
NM_007375.4(TARDBP):c.*2334G>A rs182302907 0.00002
NM_007375.4(TARDBP):c.*954A>G rs1295153637 0.00002
NM_007375.4(TARDBP):c.238+9C>T rs376560308 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_013444.3(UBQLN2):c.-271G>C rs1057515974 0.00002
NM_013444.3(UBQLN2):c.-272T>C rs944115587 0.00002
NM_014043.4(CHMP2B):c.*1422G>A rs572323799 0.00002
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) rs776928002 0.00002
NM_014845.6(FIG4):c.2547-4A>G rs886060985 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_018834.6(MATR3):c.*1143G>A rs1357784533 0.00002
NM_018834.6(MATR3):c.*2170T>G rs1403800962 0.00002
NM_018834.6(MATR3):c.*262A>G rs1378690022 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.69G>A (p.Ala23=) rs750693851 0.00002
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_001008212.2(OPTN):c.*1111A>C rs962236225 0.00001
NM_001008212.2(OPTN):c.*222G>C rs1451563043 0.00001
NM_001008212.2(OPTN):c.*306G>A rs538280633 0.00001
NM_001008212.2(OPTN):c.*335C>T rs1251482519 0.00001
NM_001008212.2(OPTN):c.-272G>T rs886046817 0.00001
NM_001008212.2(OPTN):c.-274C>A rs552494483 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) rs1269604352 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_001097577.3(ANG):c.38T>C (p.Val13Ala) rs200240901 0.00001
NM_002087.3(GRN):c.-173C>T rs886053004 0.00001
NM_004738.4(VAPB):c.-349G>T rs1198298691 0.00001
NM_004738.5(VAPB):c.*1022C>A rs1403046933 0.00001
NM_004738.5(VAPB):c.*1168G>A rs570596321 0.00001
NM_004738.5(VAPB):c.*1951A>G rs1233509892 0.00001
NM_004738.5(VAPB):c.*3027A>G rs140832542 0.00001
NM_004738.5(VAPB):c.*3628A>G rs886056821 0.00001
NM_004738.5(VAPB):c.*3942C>T rs886056823 0.00001
NM_004738.5(VAPB):c.*4023A>G rs1345404183 0.00001
NM_004738.5(VAPB):c.*4240G>C rs554043472 0.00001
NM_004738.5(VAPB):c.*4929C>T rs761438209 0.00001
NM_004738.5(VAPB):c.*574G>A rs1203824252 0.00001
NM_004738.5(VAPB):c.*602G>A rs536862661 0.00001
NM_004738.5(VAPB):c.*6238T>C rs886056835 0.00001
NM_004738.5(VAPB):c.*6354G>A rs886056836 0.00001
NM_004738.5(VAPB):c.*6462G>T rs761969079 0.00001
NM_004738.5(VAPB):c.*6746C>T rs886056839 0.00001
NM_004738.5(VAPB):c.*6842A>G rs886056840 0.00001
NM_004738.5(VAPB):c.*861T>C rs779052440 0.00001
NM_004738.5(VAPB):c.-12C>T rs886056810 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 0.00001
NM_004960.3(FUS):c.*1183C>T rs1287894101 0.00001
NM_004960.3(FUS):c.*1273C>T rs371771617 0.00001
NM_004960.3(FUS):c.*1409C>T rs537114134 0.00001
NM_004960.3(FUS):c.*1810C>A rs886051950 0.00001
NM_004960.3(FUS):c.*1851G>A rs1262725950 0.00001
NM_004960.3(FUS):c.*1908C>T rs886051952 0.00001
NM_004960.3(FUS):c.*1916A>G rs759332004 0.00001
NM_004960.3(FUS):c.*2114T>C rs968946643 0.00001
NM_004960.3(FUS):c.*2145G>T rs889675456 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_004960.3(FUS):c.*270A>G rs886051939 0.00001
NM_004960.3(FUS):c.*282G>A rs928323867 0.00001
NM_004960.3(FUS):c.*2967C>G rs1295852228 0.00001
NM_004960.3(FUS):c.*3185A>G rs1406314738 0.00001
NM_004960.3(FUS):c.*457A>G rs184638686 0.00001
NM_004960.3(FUS):c.*926T>G rs886051943 0.00001
NM_004960.4(FUS):c.-51C>T rs571696003 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.39-12C>T rs1162920137 0.00001
NM_004960.4(FUS):c.403A>G (p.Ser135Gly) rs886051934 0.00001
NM_004960.4(FUS):c.802C>G (p.Pro268Ala) rs1159514550 0.00001
NM_004960.4(FUS):c.951G>A (p.Thr317=) rs771216742 0.00001
NM_007126.5(VCP):c.*184G>A rs886063889 0.00001
NM_007126.5(VCP):c.*885G>A rs925146670 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007375.4(TARDBP):c.*2046T>G rs886045047 0.00001
NM_007375.4(TARDBP):c.*2252A>G rs552057039 0.00001
NM_007375.4(TARDBP):c.*2750G>A rs779882516 0.00001
NM_007375.4(TARDBP):c.*551C>G rs750948407 0.00001
NM_007375.4(TARDBP):c.*556G>A rs776417983 0.00001
NM_007375.4(TARDBP):c.*591G>A rs759396520 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_013444.4(UBQLN2):c.*1171T>A rs937418356 0.00001
NM_013444.4(UBQLN2):c.*16T>C rs1057515977 0.00001
NM_013444.4(UBQLN2):c.*661A>T rs1001391381 0.00001
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser) rs779133675 0.00001
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) rs1057515976 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) rs1330837640 0.00001
NM_014043.4(CHMP2B):c.*1482T>A rs910263560 0.00001
NM_014043.4(CHMP2B):c.*1641A>C rs886058912 0.00001
NM_014043.4(CHMP2B):c.*901T>C rs1014335812 0.00001
NM_014043.4(CHMP2B):c.-144C>T rs1441064038 0.00001
NM_014043.4(CHMP2B):c.-205C>T rs556556377 0.00001
NM_014043.4(CHMP2B):c.-34G>A rs199854996 0.00001
NM_014845.6(FIG4):c.-124A>G rs544958043 0.00001
NM_014845.6(FIG4):c.-134C>G rs560811735 0.00001
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_018834.6(MATR3):c.*1111T>C rs772678059 0.00001
NM_018834.6(MATR3):c.*1891T>G rs886060001 0.00001
NM_018834.6(MATR3):c.*2142G>A rs1561950387 0.00001
NM_018834.6(MATR3):c.*2194T>A rs760576225 0.00001
NM_018834.6(MATR3):c.*305A>C rs563125595 0.00001
NM_018834.6(MATR3):c.*493T>C rs972728364 0.00001
NM_018834.6(MATR3):c.*60A>G rs886059993 0.00001
NM_018834.6(MATR3):c.*97C>G rs769044248 0.00001
NM_018834.6(MATR3):c.-5C>G rs375381025 0.00001
NM_018834.6(MATR3):c.1179A>G (p.Arg393=) rs747566193 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000454.4(SOD1):c.-87G>A rs139202139
NM_000454.4(SOD1):c.-87G>C rs139202139
NM_000454.4(SOD1):c.-91C>G rs568985632
NM_000454.5(SOD1):c.*198G>A rs2049623017
NM_000454.5(SOD1):c.-55C>G rs16988395
NM_000454.5(SOD1):c.-55C>T rs16988395
NM_000454.5(SOD1):c.-56T>A rs535066119
NM_000454.5(SOD1):c.331C>T (p.His111Tyr) rs2049603707
NM_000454.5(SOD1):c.75A>G (p.Glu25=) rs2049569274
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*631A>G rs1833724733
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.-184C>G rs955585590
NM_001008212.2(OPTN):c.-9A>G rs779282676
NM_001008212.2(OPTN):c.1243-9C>A rs1833497674
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) rs1832936570
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) rs1832971194
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.*81A>C rs550007170
NM_001097577.3(ANG):c.-18-4G>A rs373669465
NM_001097577.3(ANG):c.224G>A (p.Arg75His) rs146485834
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) rs535311762
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln) rs773237991
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_001145.4(ANG):c.-237A>C rs45525731
NM_001145.4(ANG):c.-381C>T rs886050396
NM_001145.4(ANG):c.-542G>A rs1886313088
NM_001145.4(ANG):c.-594C>A rs886050394
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002937.5(RNASE4):c.-114G>C rs886050397
NM_004738.5(VAPB):c.*1431G>T rs886056813
NM_004738.5(VAPB):c.*1905C>T rs1989287889
NM_004738.5(VAPB):c.*1919A>G rs886056816
NM_004738.5(VAPB):c.*2350A>G rs1989298509
NM_004738.5(VAPB):c.*2571G>A rs1989303521
NM_004738.5(VAPB):c.*2676A>G rs886056817
NM_004738.5(VAPB):c.*2876A>G rs1989311671
NM_004738.5(VAPB):c.*3014C>T rs1269284815
NM_004738.5(VAPB):c.*3118C>A rs56310716
NM_004738.5(VAPB):c.*3260C>T rs886056819
NM_004738.5(VAPB):c.*3516C>G rs886056820
NM_004738.5(VAPB):c.*3870G>C rs886056822
NM_004738.5(VAPB):c.*4206G>A rs886056824
NM_004738.5(VAPB):c.*4374A>C rs1989355496
NM_004738.5(VAPB):c.*4418C>T rs774417253
NM_004738.5(VAPB):c.*4637G>T rs1313089832
NM_004738.5(VAPB):c.*5114G>A rs886056826
NM_004738.5(VAPB):c.*5479C>T rs554455751
NM_004738.5(VAPB):c.*5500A>G rs1989390124
NM_004738.5(VAPB):c.*5612C>G rs140602757
NM_004738.5(VAPB):c.*5616T>C rs1989394911
NM_004738.5(VAPB):c.*5789C>T rs867023811
NM_004738.5(VAPB):c.*5795T>G rs886056831
NM_004738.5(VAPB):c.*5815G>A rs886056832
NM_004738.5(VAPB):c.*6068T>C rs897600456
NM_004738.5(VAPB):c.*6631G>T rs1442004772
NM_004738.5(VAPB):c.-150C>G rs572151788
NM_004738.5(VAPB):c.-152C>A rs753958893
NM_004738.5(VAPB):c.-33C>G rs201547974
NM_004738.5(VAPB):c.212-12T>C rs1988997194
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
NM_004960.3(FUS):c.*1230C>G rs886051945
NM_004960.3(FUS):c.*1302T>G rs1323278196
NM_004960.3(FUS):c.*1734C>T rs886051949
NM_004960.3(FUS):c.*175C>T rs375615976
NM_004960.3(FUS):c.*2063C>G rs954792797
NM_004960.3(FUS):c.*2329G>C rs2079389885
NM_004960.3(FUS):c.*272T>C rs1175838580
NM_004960.3(FUS):c.*2815T>C rs2079395649
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*3092C>T rs886051958
NM_004960.3(FUS):c.*3230A>G rs550798081
NM_004960.3(FUS):c.*3263T>G rs886051959
NM_004960.3(FUS):c.*408A>C rs553760130
NM_004960.3(FUS):c.*415A>T rs771689682
NM_004960.3(FUS):c.*805C>G rs886051942
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.3(FUS):c.*953G>T rs2079374011
NM_004960.4(FUS):c.*132C>A rs565540429
NM_004960.4(FUS):c.-15C>G rs768477428
NM_004960.4(FUS):c.-48C>G rs199671743
NM_004960.4(FUS):c.-49G>A rs200997075
NM_004960.4(FUS):c.-49G>T rs200997075
NM_004960.4(FUS):c.-53C>T rs759668256
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu) rs886051936
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.40T>A (p.Tyr14Asn) rs2079194587
NM_004960.4(FUS):c.524-7C>T rs747200795
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.824A>G (p.His275Arg) rs1405011209
NM_004960.4(FUS):c.833-9A>T rs1055720509
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_007126.5(VCP):c.*216G>A rs567542622
NM_007126.5(VCP):c.*788G>A rs886063887
NM_007126.5(VCP):c.-53C>T rs369830702
NM_007126.5(VCP):c.1293C>T (p.Asp431=) rs1828712869
NM_007126.5(VCP):c.130-9T>C rs1828868223
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) rs886063892
NM_007126.5(VCP):c.591C>G (p.Ser197=) rs866003333
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) rs1828756507
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*159A>C rs886045037
NM_007375.4(TARDBP):c.*1633del rs886045043
NM_007375.4(TARDBP):c.*2005T>C rs886045045
NM_007375.4(TARDBP):c.*2029C>T rs886045046
NM_007375.4(TARDBP):c.*2260T>G rs1241104365
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695
NM_007375.4(TARDBP):c.*2360C>T rs886045049
NM_007375.4(TARDBP):c.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
NM_007375.4(TARDBP):c.*560A>T rs1218479013
NM_007375.4(TARDBP):c.*56C>T rs1440666601
NM_007375.4(TARDBP):c.*616G>C rs1401947753
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.*763G>A rs1643678827
NM_007375.4(TARDBP):c.*842G>A rs886045039
NM_007375.4(TARDBP):c.*862G>T rs886045040
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467
NM_007375.4(TARDBP):c.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855
NM_013444.3(UBQLN2):c.-277A>C rs1057515973
NM_013444.4(UBQLN2):c.*41G>T rs990201540
NM_013444.4(UBQLN2):c.*655A>C rs2068642753
NM_013444.4(UBQLN2):c.*881A>G rs1057515979
NM_013444.4(UBQLN2):c.*905G>A rs2068644137
NM_013444.4(UBQLN2):c.-159A>G rs2068626818
NM_013444.4(UBQLN2):c.-54T>G rs2068627546
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) rs2068639281
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1080C>T rs963258376
NM_014043.4(CHMP2B):c.*121G>A rs1706359144
NM_014043.4(CHMP2B):c.*1376G>C rs191203869
NM_014043.4(CHMP2B):c.*1414T>C rs1575973316
NM_014043.4(CHMP2B):c.*602T>G rs886058908
NM_014043.4(CHMP2B):c.*626A>G rs971797498
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_014043.4(CHMP2B):c.*968G>A rs886058910
NM_014043.4(CHMP2B):c.-38C>T rs886058905
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=) rs1706200423
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2546+5G>C rs1060501401
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_018834.6(MATR3):c.*138T>C rs1756028343
NM_018834.6(MATR3):c.*1633T>C rs886059998
NM_018834.6(MATR3):c.*1821T>G rs886060000
NM_018834.6(MATR3):c.*1999G>T rs886060002
NM_018834.6(MATR3):c.*2077A>C rs886060003
NM_018834.6(MATR3):c.*413A>T rs886059995
NM_018834.6(MATR3):c.*441C>G rs572126808
NM_018834.6(MATR3):c.*487C>T rs1756049111
NM_018834.6(MATR3):c.*640A>G rs145836548
NM_018834.6(MATR3):c.*929G>A rs886059997
NM_018834.6(MATR3):c.-124T>C rs886059987
NM_018834.6(MATR3):c.-139G>A rs886059986
NM_018834.6(MATR3):c.-43T>A rs12153162
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe) rs886059991
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro) rs772433814
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_021980.4(OPTN):c.-187G>T rs553169923
NM_021980.4(OPTN):c.-227G>T rs3814657
NM_021980.4(OPTN):c.-232G>T rs886046816
NM_199189.2(MATR3):c.-563T>C rs1753162477

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