ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3536
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) rs8042919 0.07196
NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr) rs36106901 0.04752
NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) rs190692435 0.03078
NM_001080421.3(UNC13A):c.4197+7C>T rs148883310 0.01751
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala) rs61754285 0.01266
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe) rs181906086 0.01248
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser) rs41311143 0.00947
NM_006058.5(TNIP1):c.437C>T (p.Ala146Val) rs2233289 0.00813
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr) rs61754480 0.00332
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_004738.5(VAPB):c.*5095T>G rs143424619 0.00210
NM_004738.5(VAPB):c.*4327A>G rs183197400 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_000454.5(SOD1):c.*153T>G rs188029963 0.00203
NM_015077.4(SARM1):c.1501T>C (p.Tyr501His) rs144613221 0.00178
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_007126.5(VCP):c.*1040T>C rs188935092 0.00171
NM_007375.4(TARDBP):c.*1622A>T rs551513393 0.00167
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_001008212.2(OPTN):c.*1063C>A rs530046832 0.00131
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_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) rs59551486 0.00091
NM_001008212.2(OPTN):c.-250C>A rs886046818 0.00088
NM_001008212.2(OPTN):c.*461G>A rs541250740 0.00081
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_004960.3(FUS):c.*721A>G rs558776704 0.00071
NM_004738.5(VAPB):c.*2850T>C rs777977641 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_001008212.2(OPTN):c.*1285T>C rs560947786 0.00057
NM_018834.6(MATR3):c.*1757T>C rs191196444 0.00057
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00057
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_018325.5(C9orf72):c.*602A>G rs567258799 0.00054
NM_199189.2(MATR3):c.-649C>T rs779721416 0.00053
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_007375.4(TARDBP):c.*2154G>T rs886045048 0.00046
NM_007126.5(VCP):c.*367G>A rs768675930 0.00043
NM_004738.5(VAPB):c.*1050G>A rs551974797 0.00041
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_020919.4(ALS2):c.*584G>A rs577282089 0.00041
NM_004738.5(VAPB):c.*4862A>G rs143395644 0.00040
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_018325.5(C9orf72):c.*901T>C rs774314112 0.00039
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_004738.5(VAPB):c.*3001T>G rs551260354 0.00036
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_007126.5(VCP):c.*700C>A rs537730311 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser) rs144466778 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_004960.4(FUS):c.188A>G (p.Asn63Ser) rs140883211 0.00033
NM_007375.4(TARDBP):c.*666G>A rs778834503 0.00032
NM_007375.4(TARDBP):c.*2773A>G rs187380325 0.00031
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_004082.5(DCTN1):c.3029+6G>T rs754143116 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_004738.5(VAPB):c.*3315A>G rs772298515 0.00027
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 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_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_018325.5(C9orf72):c.*317A>G rs886063839 0.00025
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_213720.3(CHCHD10):c.409+1G>A rs367684804 0.00025
NM_001256054.3(C9orf72):c.-115A>C rs183102304 0.00024
NM_004738.5(VAPB):c.*5283C>T rs747799775 0.00024
NM_004960.3(FUS):c.*1451A>G rs960906406 0.00024
NM_014043.4(CHMP2B):c.*1647A>G rs534772903 0.00024
NM_007126.5(VCP):c.-250C>T rs886063894 0.00023
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00022
NM_004738.5(VAPB):c.*1800A>G rs564187580 0.00022
NM_004738.5(VAPB):c.*6404C>T rs774485714 0.00022
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_004738.5(VAPB):c.*3643G>C rs554314719 0.00021
NM_007375.4(TARDBP):c.*670T>C rs745611651 0.00021
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_018325.5(C9orf72):c.*122G>A rs549202876 0.00021
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) rs199757764 0.00021
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr) rs372658867 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_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_007375.4(TARDBP):c.*214T>C rs557787340 0.00019
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly) rs545080321 0.00018
NM_001008212.2(OPTN):c.*1385T>C rs546352206 0.00017
NM_001008212.2(OPTN):c.*413G>A rs886046825 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe) rs371716779 0.00017
NM_001761.3(CCNF):c.419G>A (p.Arg140Gln) rs371783851 0.00016
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004960.3(FUS):c.*2299A>C rs774311328 0.00016
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_007375.4(TARDBP):c.*2823T>C rs961126665 0.00016
NM_014845.6(FIG4):c.-138T>C rs550585093 0.00016
NM_014845.6(FIG4):c.-84A>G rs764845399 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_020919.4(ALS2):c.*1538C>G rs868173236 0.00016
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser) rs747973076 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_004738.5(VAPB):c.*3738A>C rs766693591 0.00015
NM_004960.3(FUS):c.*1834A>G rs758999415 0.00015
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln) rs144370662 0.00015
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) rs149380040 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) rs200417604 0.00015
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys) rs144403346 0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr) rs141011688 0.00015
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) rs368899583 0.00014
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944 0.00014
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg) rs376802604 0.00014
NM_004738.5(VAPB):c.*3192T>C rs545089397 0.00014
NM_004960.3(FUS):c.*1750C>T rs191806441 0.00014
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_020919.4(ALS2):c.*504G>A rs183326117 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) rs376564889 0.00013
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His) rs776489779 0.00013
NM_004738.4(VAPB):c.-283A>C rs886056804 0.00013
NM_007126.5(VCP):c.*347C>T rs886063888 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_018325.5(C9orf72):c.*32A>C rs759595881 0.00013
NM_020919.4(ALS2):c.396G>A (p.Pro132=) rs374978798 0.00013
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr) rs113980038 0.00012
NM_004082.5(DCTN1):c.2015+3A>G rs200057343 0.00012
NM_004960.3(FUS):c.*1581T>C rs751331525 0.00012
NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile) rs1336386973 0.00012
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_025137.4(SPG11):c.256C>G (p.His86Asp) rs773123413 0.00012
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala) rs150798076 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_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_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) rs200416249 0.00011
NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys) rs145061116 0.00011
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu) rs201902382 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser) rs752506754 0.00010
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met) rs143914684 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly) rs758320436 0.00010
NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro) rs372096285 0.00010
NM_004960.3(FUS):c.*1843G>A rs886051951 0.00010
NM_004960.4(FUS):c.661_663del (p.Ser221del) rs746633090 0.00010
NM_014043.4(CHMP2B):c.*718C>T rs918982067 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met) rs201089588 0.00010
NC_000005.10:g.139276152T>A rs539017488 0.00009
NM_001008212.2(OPTN):c.1401+4A>G rs371470839 0.00009
NM_001256054.3(C9orf72):c.-152A>G rs756998583 0.00009
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 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_014043.4(CHMP2B):c.*1421C>T rs1016915311 0.00009
NM_014043.4(CHMP2B):c.532-3T>C rs375829451 0.00009
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_018834.6(MATR3):c.*857C>T rs745417770 0.00009
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser) rs144637575 0.00009
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His) rs376817637 0.00009
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp) rs79186522 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_199189.3(MATR3):c.-422C>T rs751398373 0.00009
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00008
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) rs372751122 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_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_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_018325.5(C9orf72):c.*1548G>A rs549660498 0.00008
NM_020919.4(ALS2):c.*586G>A rs905259072 0.00008
NM_020919.4(ALS2):c.366G>A (p.Gln122=) rs775483404 0.00008
NM_025137.4(SPG11):c.1602+10T>G rs201535432 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His) rs149424705 0.00007
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His) rs369086889 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val) rs781268909 0.00007
NM_004082.5(DCTN1):c.3529+3A>G rs370727908 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_004960.3(FUS):c.*1610C>T rs538629605 0.00007
NM_004960.3(FUS):c.*2314C>G rs768611402 0.00007
NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met) rs374970657 0.00007
NM_007375.4(TARDBP):c.*663C>T rs1401373740 0.00007
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met) rs755520364 0.00007
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_018325.5(C9orf72):c.*891A>G rs952713285 0.00007
NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr) rs760887239 0.00007
NM_018325.5(C9orf72):c.765G>A (p.Leu255=) rs758724401 0.00007
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) rs368315489 0.00007
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro) rs529316227 0.00007
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=) rs370282739 0.00007
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln) rs200283964 0.00007
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) rs374353973 0.00007
NM_001008212.2(OPTN):c.*218G>C rs886046824 0.00006
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr) rs760492259 0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala) rs750995656 0.00006
NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr) rs371236469 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00006
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His) rs902195752 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr) rs764443534 0.00006
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val) rs72659379 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg) rs758026180 0.00006
NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala) rs762752851 0.00006
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln) rs573184955 0.00006
NM_004738.5(VAPB):c.*348C>T rs182950622 0.00006
NM_004738.5(VAPB):c.*480T>C rs1037475892 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_004960.4(FUS):c.630G>C (p.Gln210His) rs779124981 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_007126.5(VCP):c.1482+4G>A rs768327051 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_014043.4(CHMP2B):c.613C>T (p.Arg205Trp) rs373536428 0.00006
NM_015046.7(SETX):c.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_018834.6(MATR3):c.*2241A>G rs886060006 0.00006
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val) rs766453846 0.00006
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr) rs201842512 0.00006
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser) rs552471760 0.00006
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg) rs139423939 0.00006
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp) rs368992436 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) rs371313584 0.00006
NM_025137.4(SPG11):c.789A>G (p.Lys263=) rs764439012 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_001199397.3(NEK1):c.107A>G (p.Asn36Ser) rs1404362599 0.00005
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln) rs1258386028 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly) rs145857843 0.00005
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu) rs752079233 0.00005
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly) rs780875333 0.00005
NM_004082.5(DCTN1):c.35C>T (p.Thr12Met) rs72659364 0.00005
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln) rs149447433 0.00005
NM_004738.5(VAPB):c.*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_013254.4(TBK1):c.1718G>A (p.Arg573His) rs186475789 0.00005
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_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_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_018325.5(C9orf72):c.*454A>G rs754824201 0.00005
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) rs370591665 0.00005
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) rs1242751535 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met) rs781271890 0.00005
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp) rs774273136 0.00005
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser) rs768029813 0.00004
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.1588C>A (p.Gln530Lys) rs759605171 0.00004
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln) rs577097767 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_001256054.3(C9orf72):c.-173A>G rs886063848 0.00004
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser) rs764097337 0.00004
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln) rs200551825 0.00004
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu) rs745356508 0.00004
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile) rs539682696 0.00004
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His) rs761822261 0.00004
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala) rs142719499 0.00004
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met) rs150926394 0.00004
NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln) rs752399708 0.00004
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val) rs763480310 0.00004
NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser) rs146865209 0.00004
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His) rs758712765 0.00004
NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys) rs377183051 0.00004
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr) rs374163967 0.00004
NM_004082.5(DCTN1):c.259A>G (p.Ile87Val) rs969750631 0.00004
NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys) rs747769504 0.00004
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln) rs375079576 0.00004
NM_004082.5(DCTN1):c.3353A>T (p.Gln1118Leu) rs1357089479 0.00004
NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His) rs980920477 0.00004
NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val) rs775442446 0.00004
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys) rs759373031 0.00004
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val) rs1026036256 0.00004
NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser) rs960727301 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004082.5(DCTN1):c.824G>A (p.Arg275His) rs375266113 0.00004
NM_004738.5(VAPB):c.*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.502A>G (p.Lys168Glu) rs774643393 0.00004
NM_004738.5(VAPB):c.58+5G>A rs753611165 0.00004
NM_004960.3(FUS):c.*1081T>G rs769920119 0.00004
NM_004960.4(FUS):c.484A>C (p.Asn162His) rs200264565 0.00004
NM_004960.4(FUS):c.676G>A (p.Gly226Ser) rs758970940 0.00004
NM_004960.4(FUS):c.788A>G (p.Asn263Ser) rs144917373 0.00004
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) rs146118253 0.00004
NM_007126.5(VCP):c.1242G>A (p.Leu414=) rs375262833 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser) rs80356742 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val) rs755655622 0.00004
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser) rs748061846 0.00004
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) rs779715292 0.00004
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr) rs199905735 0.00004
NM_013254.4(TBK1):c.1792A>G (p.Met598Val) rs899858451 0.00004
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys) rs753009660 0.00004
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile) rs374277596 0.00004
NM_014043.4(CHMP2B):c.321+3A>G rs989392144 0.00004
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944 0.00004
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln) rs762663195 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_018834.6(MATR3):c.*2098A>G rs774066454 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_018834.6(MATR3):c.1778+5T>C rs377212154 0.00004
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala) rs765603068 0.00004
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn) rs774070119 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) rs181782027 0.00004
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe) rs41308836 0.00004
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu) rs41308810 0.00004
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) rs190606035 0.00004
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr) rs760573942 0.00004
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile) rs139399250 0.00004
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg) rs375859622 0.00004
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn) rs191148548 0.00004
NM_025137.4(SPG11):c.6006+3A>G rs201717063 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu) rs747133152 0.00004
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) rs377341108 0.00004
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His) rs779892720 0.00004
NM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln) rs146644733 0.00004
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) rs371437007 0.00004
NM_213720.3(CHCHD10):c.42-2A>G rs1354578196 0.00004
NM_000446.7(PON1):c.707A>G (p.Tyr236Cys) rs755475189 0.00003
NM_000454.4(SOD1):c.-84C>G rs573544165 0.00003
NM_001008212.2(OPTN):c.1533-3C>T rs373981784 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln) rs550042475 0.00003
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu) rs780122817 0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) rs540943401 0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His) rs201896586 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu) rs761423892 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn) rs774986849 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 0.00003
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln) rs142318791 0.00003
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln) rs763378572 0.00003
NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys) rs150746209 0.00003
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) rs778201974 0.00003
NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg) rs751782015 0.00003
NM_004082.5(DCTN1):c.33+3A>G rs1397714640 0.00003
NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys) rs374419252 0.00003
NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala) rs757510484 0.00003
NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val) rs969899022 0.00003
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys) rs538932463 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr) rs771966365 0.00003
NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala) rs371437767 0.00003
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp) rs148810193 0.00003
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg) rs770153273 0.00003
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp) rs756611519 0.00003
NM_004738.5(VAPB):c.*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.104C>T (p.Pro35Leu) rs1456089445 0.00003
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) rs750394268 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_004960.4(FUS):c.673G>A (p.Gly225Ser) rs551577399 0.00003
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) rs377539747 0.00003
NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val) rs778074369 0.00003
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val) rs372101503 0.00003
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) rs777843655 0.00003
NM_006000.3(TUBA4A):c.1214T>G (p.Val405Gly) rs773161555 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.*963C>T rs751628760 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys) rs780192375 0.00003
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr) rs755069538 0.00003
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala) rs765585935 0.00003
NM_013254.4(TBK1):c.40A>G (p.Ile14Val) rs781325780 0.00003
NM_013254.4(TBK1):c.454G>C (p.Val152Leu) rs202011771 0.00003
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile) rs200758840 0.00003
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly) rs781734842 0.00003
NM_014845.5(FIG4):c.-152C>A rs1408966015 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 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_014845.6(FIG4):c.421C>T (p.Arg141Trp) rs750102036 0.00003
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn) rs573441014 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_018091.6(ELP3):c.1385G>A (p.Arg462His) rs190129217 0.00003
NM_018325.5(C9orf72):c.-8A>G rs548524458 0.00003
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro) rs200703028 0.00003
NM_018325.5(C9orf72):c.573A>G (p.Lys191=) rs775042273 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.2135A>G (p.Lys712Arg) rs750375963 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys) rs768516057 0.00003
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) rs777806515 0.00003
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln) rs778960331 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met) rs200918991 0.00003
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp) rs748177028 0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr) rs1060501171 0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly) rs147713329 0.00003
NM_025137.4(SPG11):c.634A>G (p.Ile212Val) rs758638438 0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln) rs370773328 0.00003
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis) rs1331704584 0.00003
NM_025137.4(SPG11):c.937G>A (p.Val313Ile) rs533492925 0.00003
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155 0.00003
NM_000454.5(SOD1):c.149del (p.Glu50fs) rs752237082 0.00002
NM_000454.5(SOD1):c.448A>G (p.Ile150Val) rs1169917994 0.00002
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr) rs768591421 0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001008212.2(OPTN):c.287G>A (p.Arg96His) rs184561087 0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val) rs764364218 0.00002
NM_001008212.2(OPTN):c.626+5del rs776938424 0.00002
NM_001008212.2(OPTN):c.882+3G>A rs761196996 0.00002
NM_001097577.3(ANG):c.62C>T (p.Pro21Leu) rs773237991 0.00002
NM_001145.4(ANG):c.-168A>G rs374332721 0.00002
NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile) rs587778223 0.00002
NM_002180.3(IGHMBP2):c.-4G>A rs752980392 0.00002
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00002
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val) rs772122047 0.00002
NM_003900.5(SQSTM1):c.1166-1G>A rs529512338 0.00002
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp) rs539942101 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser) rs748555662 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=) rs1449269769 0.00002
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe) rs763040103 0.00002
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00002
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val) rs755702835 0.00002
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys) rs548787835 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp) rs758625124 0.00002
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met) rs371832577 0.00002
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg) rs368010261 0.00002
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys) rs769873457 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro) rs745853858 0.00002
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser) rs1194274800 0.00002
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) rs148559402 0.00002
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu) rs376459756 0.00002
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) rs1367793899 0.00002
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr) rs777431896 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg) rs1299296008 0.00002
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp) rs150368544 0.00002
NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr) rs922032527 0.00002
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu) rs773897036 0.00002
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys) rs756634587 0.00002
NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg) rs566433112 0.00002
NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala) rs370192633 0.00002
NM_004082.5(DCTN1):c.2006G>A (p.Arg669His) rs140523637 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile) rs753618444 0.00002
NM_004082.5(DCTN1):c.2303G>A (p.Arg768His) rs368869853 0.00002
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys) rs771231109 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His) rs771075973 0.00002
NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala) rs753405772 0.00002
NM_004082.5(DCTN1):c.3107G>A (p.Arg1036His) rs762382952 0.00002
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) rs573012389 0.00002
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val) rs757034536 0.00002
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys) rs121909345 0.00002
NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met) rs376549770 0.00002
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu) rs975026607 0.00002
NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln) rs755013572 0.00002
NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His) rs560344779 0.00002
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln) rs753892865 0.00002
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) rs763427780 0.00002
NM_004738.5(VAPB):c.*1563G>C rs1049373137 0.00002
NM_004738.5(VAPB):c.*172A>C rs757709521 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_004738.5(VAPB):c.199A>G (p.Ile67Val) rs772975721 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.1204_1206del (p.Ser402del) rs781120756 0.00002
NM_004960.4(FUS):c.238G>A (p.Gly80Ser) rs776474571 0.00002
NM_004960.4(FUS):c.317C>T (p.Pro106Leu) rs374191107 0.00002
NM_004960.4(FUS):c.443G>C (p.Ser148Thr) rs773655049 0.00002
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys) rs145013063 0.00002
NM_005022.4(PFN1):c.86C>T (p.Pro29Leu) rs769909149 0.00002
NM_005235.3(ERBB4):c.1441A>G (p.Ile481Val) rs368860175 0.00002
NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys) rs756650586 0.00002
NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile) rs369248674 0.00002
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg) rs990147591 0.00002
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp) rs780073328 0.00002
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) rs192644838 0.00002
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) rs532632647 0.00002
NM_007126.5(VCP):c.233C>G (p.Ser78Cys) rs1252437282 0.00002
NM_007126.5(VCP):c.237T>A (p.Asp79Glu) rs746810092 0.00002
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) rs1329151473 0.00002
NM_007126.5(VCP):c.811+5G>C rs1356010891 0.00002
NM_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.963C>T (p.Ala321=) rs547979470 0.00002
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu) rs748571947 0.00002
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile) rs1433610854 0.00002
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys) rs772820487 0.00002
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg) rs375610142 0.00002
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys) rs1366668789 0.00002
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly) rs746971642 0.00002
NM_013444.3(UBQLN2):c.-271G>C rs1057515974 0.00002
NM_013444.3(UBQLN2):c.-272T>C rs944115587 0.00002
NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu) rs756653207 0.00002
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg) rs202132872 0.00002
NM_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_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2425A>G (p.Ile809Val) rs906452681 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) rs771168824 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_018325.5(C9orf72):c.*673T>C rs886063835 0.00002
NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe) rs541965231 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.1366A>G (p.Thr456Ala) rs748098389 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr) rs1314919388 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr) rs774158046 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_018834.6(MATR3):c.620G>A (p.Arg207His) rs749335257 0.00002
NM_020919.4(ALS2):c.1251A>G (p.Ser417=) rs750482532 0.00002
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) rs886055454 0.00002
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) rs781051642 0.00002
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) rs149670991 0.00002
NM_020919.4(ALS2):c.339C>T (p.Tyr113=) rs370824570 0.00002
NM_025137.4(SPG11):c.206C>T (p.Thr69Met) rs764422997 0.00002
NM_025137.4(SPG11):c.2306G>A (p.Arg769His) rs368151745 0.00002
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val) rs758923470 0.00002
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu) rs141106870 0.00002
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn) rs770380861 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser) rs776764189 0.00002
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr) rs199873327 0.00002
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His) rs766384717 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu) rs748206574 0.00002
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr) rs376828731 0.00002
NM_025137.4(SPG11):c.820G>A (p.Val274Ile) rs543316224 0.00002
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) rs1287389347 0.00002
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro) rs889489701 0.00002
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) rs766426370 0.00002
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_001008212.2(OPTN):c.*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.1174A>G (p.Thr392Ala) rs751226367 0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly) rs956159636 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn) rs1487584331 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) rs1269604352 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala) rs758942502 0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met) rs776058639 0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) rs199700857 0.00001
NM_001008212.2(OPTN):c.626+4T>C rs1564360523 0.00001
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu) rs1189662370 0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) rs775448931 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008212.2(OPTN):c.882+5G>C rs766398912 0.00001
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe) rs1833407652 0.00001
NM_001008212.2(OPTN):c.950A>G (p.His317Arg) rs747365111 0.00001
NM_001097577.3(ANG):c.38T>C (p.Val13Ala) rs200240901 0.00001
NM_001097577.3(ANG):c.433C>T (p.Arg145Cys) rs565444731 0.00001
NM_001256054.3(C9orf72):c.-47G>A rs886063846 0.00001
NM_001378743.1(CYLD):c.170A>G (p.His57Arg) rs767537235 0.00001
NM_001761.3(CCNF):c.1918G>A (p.Val640Met) rs373872375 0.00001
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) rs781417955 0.00001
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys) rs535932454 0.00001
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser) rs776303544 0.00001
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val) rs1447276382 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys) rs1471403162 0.00001
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr) rs752910741 0.00001
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val) rs1241285995 0.00001
NM_003900.5(SQSTM1):c.205+6C>T rs1286712928 0.00001
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys) rs368853286 0.00001
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro) rs1208284061 0.00001
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His) rs766411872 0.00001
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys) rs1295820640 0.00001
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) rs1181188986 0.00001
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly) rs752438818 0.00001
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys) rs750784335 0.00001
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln) rs778554903 0.00001
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) rs771903158 0.00001
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val) rs1209470881 0.00001
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn) rs753212399 0.00001
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) rs1309887153 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp) rs1442832120 0.00001
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly) rs377198490 0.00001
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg) rs200731802 0.00001
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln) rs778537429 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu) rs1397353855 0.00001
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu) rs757778292 0.00001
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn) rs1325278483 0.00001
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu) rs1353365075 0.00001
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) rs778679611 0.00001
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr) rs745788957 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val) rs753685955 0.00001
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr) rs757493001 0.00001
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val) rs541356917 0.00001
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg) rs1460912506 0.00001
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) rs1225559170 0.00001
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser) rs1156716975 0.00001
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) rs755411592 0.00001
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser) rs1674769234 0.00001
NM_004082.5(DCTN1):c.1105C>T (p.Arg369Cys) rs149499018 0.00001
NM_004082.5(DCTN1):c.1128-3C>G rs914567815 0.00001
NM_004082.5(DCTN1):c.1171C>A (p.Leu391Ile) rs1282851211 0.00001
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys) rs1040712616 0.00001
NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg) rs745458066 0.00001
NM_004082.5(DCTN1):c.1261A>G (p.Ser421Gly) rs1417901024 0.00001
NM_004082.5(DCTN1):c.1288-6A>G rs1236101222 0.00001
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His) rs763277715 0.00001
NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser) rs756081164 0.00001
NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp) rs759801622 0.00001
NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val) rs761331951 0.00001
NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp) rs184840910 0.00001
NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys) rs1327106238 0.00001
NM_004082.5(DCTN1):c.1505G>A (p.Arg502His) rs780066070 0.00001
NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met) rs967117932 0.00001
NM_004082.5(DCTN1):c.1594C>G (p.Arg532Gly) rs563630664 0.00001
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg) rs4994503 0.00001
NM_004082.5(DCTN1):c.1774A>G (p.Met592Val) rs778331682 0.00001
NM_004082.5(DCTN1):c.177C>T (p.Gly59=) rs72466484 0.00001
NM_004082.5(DCTN1):c.1780G>C (p.Asp594His) rs1200525088 0.00001
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn) rs1243051229 0.00001
NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln) rs779723221 0.00001
NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile) rs375778151 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp) rs764568642 0.00001
NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp) rs1674555206 0.00001
NM_004082.5(DCTN1):c.2083C>T (p.His695Tyr) rs756952260 0.00001
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu) rs1309359471 0.00001
NM_004082.5(DCTN1):c.2253+4A>T rs1674495774 0.00001
NM_004082.5(DCTN1):c.2296C>T (p.Arg766Trp) rs766338463 0.00001
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln) rs200611961 0.00001
NM_004082.5(DCTN1):c.2315A>G (p.Gln772Arg) rs1648520142 0.00001
NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser) rs1266701728 0.00001
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly) rs752889408 0.00001
NM_004082.5(DCTN1):c.2384G>A (p.Arg795His) rs377530504 0.00001
NM_004082.5(DCTN1):c.2396A>G (p.Lys799Arg) rs773793200 0.00001
NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln) rs1443384895 0.00001
NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met) rs1313684238 0.00001
NM_004082.5(DCTN1):c.2467G>A (p.Val823Ile) rs753992154 0.00001
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly) rs1573152106 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro) rs777542005 0.00001
NM_004082.5(DCTN1):c.258C>T (p.Gly86=) rs140054458 0.00001
NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr) rs72466488 0.00001
NM_004082.5(DCTN1):c.2622C>T (p.Ser874=) rs1367060889 0.00001
NM_004082.5(DCTN1):c.2639C>T (p.Thr880Ile) rs758789274 0.00001
NM_004082.5(DCTN1):c.2660A>C (p.Glu887Ala) rs1166896176 0.00001
NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys) rs767379191 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp) rs758168607 0.00001
NM_004082.5(DCTN1):c.2795G>A (p.Arg932His) rs767725965 0.00001
NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys) rs780644304 0.00001
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met) rs754893423 0.00001
NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp) rs756183069 0.00001
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His) rs369129714 0.00001
NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu) rs746148076 0.00001
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp) rs764918482 0.00001
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) rs759276455 0.00001
NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter) rs376996779 0.00001
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met) rs764028925 0.00001
NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) rs201918007 0.00001
NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu) rs1274754432 0.00001
NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala) rs749776779 0.00001
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln) rs749196418 0.00001
NM_004082.5(DCTN1):c.3322C>G (p.Gln1108Glu) rs374567374 0.00001
NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr) rs1191490257 0.00001
NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val) rs534309303 0.00001
NM_004082.5(DCTN1):c.3448C>T (p.Arg1150Cys) rs1194029274 0.00001
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His) rs771822061 0.00001
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile) rs373550911 0.00001
NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly) rs1180149480 0.00001
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His) rs554008879 0.00001
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu) rs778307537 0.00001
NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr) rs748860016 0.00001
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala) rs745657856 0.00001
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met) rs752784218 0.00001
NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr) rs773727370 0.00001
NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser) rs772655253 0.00001
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp) rs768025820 0.00001
NM_004082.5(DCTN1):c.414+6G>A rs767853891 0.00001
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter) rs781290307 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln) rs1359633006 0.00001
NM_004082.5(DCTN1):c.458C>T (p.Thr153Met) rs1052858105 0.00001
NM_004082.5(DCTN1):c.461G>A (p.Arg154His) rs1398619239 0.00001
NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu) rs1064797035 0.00001
NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu) rs916359967 0.00001
NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu) rs765192491 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu) rs1461654392 0.00001
NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln) rs1411382364 0.00001
NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn) rs539287431 0.00001
NM_004082.5(DCTN1):c.821G>A (p.Arg274Gln) rs1379544377 0.00001
NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys) rs775294408 0.00001
NM_004082.5(DCTN1):c.843+5G>T rs757238618 0.00001
NM_004082.5(DCTN1):c.844-5C>G rs1435999777 0.00001
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp) rs1042083899 0.00001
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) rs751177222 0.00001
NM_004738.4(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.*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.14A>G (p.Glu5Gly) rs748371538 0.00001
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) rs1475473253 0.00001
NM_004738.5(VAPB):c.315A>G (p.Val105=) rs757744162 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 0.00001
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg) rs773800478 0.00001
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) rs772254840 0.00001
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) rs1989149258 0.00001
NM_004738.5(VAPB):c.622A>G (p.Ile208Val) rs376121617 0.00001
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) rs1989222522 0.00001
NM_004928.3(CFAP410):c.642+22G>A rs746114248 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.*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.*108C>T rs780606789 0.00001
NM_004960.4(FUS):c.-51C>T rs571696003 0.00001
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys) rs776191869 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu) rs141684472 0.00001
NM_004960.4(FUS):c.1493G>A (p.Arg498Gln) rs781554309 0.00001
NM_004960.4(FUS):c.1544G>T (p.Gly515Val) rs1307257028 0.00001
NM_004960.4(FUS):c.181A>G (p.Ser61Gly) rs1481060391 0.00001
NM_004960.4(FUS):c.182G>A (p.Ser61Asn) rs777365216 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.265T>A (p.Ser89Thr) rs372638663 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.688G>T (p.Gly230Cys) rs748374535 0.00001
NM_004960.4(FUS):c.701G>A (p.Arg234His) rs749434237 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_005022.4(PFN1):c.37G>A (p.Ala13Thr) rs763837842 0.00001
NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val) rs778047462 0.00001
NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr) rs373685875 0.00001
NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser) rs1223312722 0.00001
NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser) rs757597004 0.00001
NM_005866.4(SIGMAR1):c.*51G>T rs768783740 0.00001
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser) rs777565671 0.00001
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) rs773344340 0.00001
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) rs1278952640 0.00001
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) rs1241574813 0.00001
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) rs778413865 0.00001
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met) rs745503254 0.00001
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) rs202244713 0.00001
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser) rs1411120179 0.00001
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) rs149409262 0.00001
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660 0.00001
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn) rs892812356 0.00001
NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met) rs1396152845 0.00001
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) rs541996857 0.00001
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) rs754118993 0.00001
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro) rs1254998914 0.00001
NM_007126.5(VCP):c.*184G>A rs886063889 0.00001
NM_007126.5(VCP):c.*885G>A rs925146670 0.00001
NM_007126.5(VCP):c.1162A>G (p.Met388Val) rs761895823 0.00001
NM_007126.5(VCP):c.1211A>C (p.His404Pro) rs1359620830 0.00001
NM_007126.5(VCP):c.1294C>G (p.Leu432Val) rs771751916 0.00001
NM_007126.5(VCP):c.130-3C>T rs767838037 0.00001
NM_007126.5(VCP):c.1327A>C (p.Asn443His) rs770514866 0.00001
NM_007126.5(VCP):c.1402G>A (p.Val468Met) rs779392075 0.00001
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys) rs752765916 0.00001
NM_007126.5(VCP):c.1768A>G (p.Ile590Val) rs1255802734 0.00001
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr) rs1284380722 0.00001
NM_007126.5(VCP):c.1985G>A (p.Arg662His) rs762185724 0.00001
NM_007126.5(VCP):c.1996G>A (p.Val666Ile) rs754268174 0.00001
NM_007126.5(VCP):c.2126G>A (p.Arg709Gln) rs746617777 0.00001
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) rs779670266 0.00001
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) rs758602597 0.00001
NM_007126.5(VCP):c.303-3C>T rs1183711292 0.00001
NM_007126.5(VCP):c.331G>A (p.Gly111Ser) rs752038734 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.41C>T (p.Thr14Ile) rs1219381953 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.451A>G (p.Ile151Val) rs367881889 0.00001
NM_007126.5(VCP):c.62A>G (p.Asn21Ser) rs1409460709 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007126.5(VCP):c.73C>T (p.Arg25Trp) rs920962883 0.00001
NM_007375.4(TARDBP):c.*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.1015A>G (p.Met339Val) rs1162800752 0.00001
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) rs80356741 0.00001
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) rs142913423 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys) rs956150244 0.00001
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) rs1419402299 0.00001
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr) rs763874949 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013254.4(TBK1):c.1443A>T (p.Val481=) rs1396706988 0.00001
NM_013254.4(TBK1):c.1505A>G (p.His502Arg) rs1206925876 0.00001
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val) rs768023625 0.00001
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala) rs371955059 0.00001
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln) rs1337698475 0.00001
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala) rs41292021 0.00001
NM_013254.4(TBK1):c.51A>G (p.Gln17=) rs769584803 0.00001
NM_013254.4(TBK1):c.683G>A (p.Arg228His) rs748622208 0.00001
NM_013254.4(TBK1):c.734C>T (p.Ala245Val) rs751890932 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 0.00001
NM_013254.4(TBK1):c.962C>T (p.Ala321Val) rs762705031 0.00001
NM_013444.4(UBQLN2):c.*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.1274A>G (p.Gln425Arg) rs1243726473 0.00001
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser) rs387906711 0.00001
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) rs1343347647 0.00001
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) rs1293533801 0.00001
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) rs1569254665 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) rs1330837640 0.00001
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro) rs1459753673 0.00001
NM_014043.4(CHMP2B):c.*1482T>A rs910263560 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_014043.4(CHMP2B):c.126+4A>G rs369912013 0.00001
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg) rs143800051 0.00001
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu) rs745754634 0.00001
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp) rs553846327 0.00001
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met) rs1295215037 0.00001
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile) rs202143621 0.00001
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu) rs369257752 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.1448G>A (p.Arg483Gln) rs749233172 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.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) rs774805375 0.00001
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) rs397514707 0.00001
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) rs999767103 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1398T>G (p.Ile466Met) rs927783972 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln) rs548433078 0.00001
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) rs1032816797 0.00001
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala) rs957434595 0.00001
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) rs1015257691 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) rs1846998334 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) rs778111855 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00001
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) rs772466321 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 0.00001
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu) rs1362908917 0.00001
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr) rs766799310 0.00001
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) rs947336270 0.00001
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) rs763771426 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) rs1589671916 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.598A>G (p.Ile200Val) rs1368588434 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889 0.00001
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp) rs1843269972 0.00001
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) rs781671592 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7199+8A>G rs747893697 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr) rs1842557730 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) rs901741485 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.980A>T (p.Glu327Val) rs1315992594 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_018325.5(C9orf72):c.*224C>G rs1333786274 0.00001
NM_018325.5(C9orf72):c.*250T>C rs886063840 0.00001
NM_018325.5(C9orf72):c.*552A>C rs886063837 0.00001
NM_018325.5(C9orf72):c.*73G>A rs886063841 0.00001
NM_018325.5(C9orf72):c.1002C>T (p.Ser334=) rs780494226 0.00001
NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln) rs750045383 0.00001
NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys) rs773251849 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.*493T>C rs972728364 0.00001
NM_018834.6(MATR3):c.*60A>G rs886059993 0.00001
NM_018834.6(MATR3):c.-5C>G rs375381025 0.00001
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.1179A>G (p.Arg393=) rs747566193 0.00001
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser) rs1755320528 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr) rs779612686 0.00001
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918 0.00001
NM_018834.6(MATR3):c.1435-10T>C rs772340385 0.00001
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu) rs777025841 0.00001
NM_018834.6(MATR3):c.1636A>G (p.Met546Val) rs1412628714 0.00001
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile) rs748592981 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del) rs1186297721 0.00001
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr) rs1176347654 0.00001
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val) rs1261252930 0.00001
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu) rs1228960452 0.00001
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu) rs759928245 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser) rs1468138513 0.00001
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly) rs538917496 0.00001
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser) rs1452954379 0.00001
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg) rs765284792 0.00001
NM_018834.6(MATR3):c.2372-3dup rs1561945483 0.00001
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr) rs912142064 0.00001
NM_018834.6(MATR3):c.256A>G (p.Ile86Val) rs201277902 0.00001
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys) rs1327023414 0.00001
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988 0.00001
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser) rs745440760 0.00001
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly) rs1255035245 0.00001
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr) rs1433371817 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe) rs200871699 0.00001
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala) rs774478774 0.00001
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn) rs762374587 0.00001
NM_018834.6(MATR3):c.898G>A (p.Val300Ile) rs1307308858 0.00001
NM_018834.6(MATR3):c.960G>T (p.Gln320His) rs773617455 0.00001
NM_020919.4(ALS2):c.*1093C>T rs983208576 0.00001
NM_020919.4(ALS2):c.*1249G>A rs886055451 0.00001
NM_020919.4(ALS2):c.*1259A>G rs888553434 0.00001
NM_020919.4(ALS2):c.*1398C>A rs759248084 0.00001
NM_020919.4(ALS2):c.*1501A>G rs1689312301 0.00001
NM_020919.4(ALS2):c.*1533C>T rs763133240 0.00001
NM_020919.4(ALS2):c.*302A>G rs1054683729 0.00001
NM_020919.4(ALS2):c.-31T>A rs886055456 0.00001
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) rs41308816 0.00001
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val) rs780750146 0.00001
NM_020919.4(ALS2):c.1402G>A (p.Val468Met) rs1412043555 0.00001
NM_020919.4(ALS2):c.1545A>C (p.Gly515=) rs377402588 0.00001
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020919.4(ALS2):c.1805G>A (p.Arg602His) rs201496655 0.00001
NM_020919.4(ALS2):c.20+9A>G rs763370210 0.00001
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr) rs1184685995 0.00001
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg) rs751084476 0.00001
NM_020919.4(ALS2):c.2472C>T (p.Asp824=) rs761267157 0.00001
NM_020919.4(ALS2):c.2802T>C (p.Asn934=) rs1265678329 0.00001
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) rs375742430 0.00001
NM_020919.4(ALS2):c.2912+8C>T rs528131651 0.00001
NM_020919.4(ALS2):c.2961A>G (p.Ser987=) rs780301796 0.00001
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) rs557709223 0.00001
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=) rs780354290 0.00001
NM_025137.4(SPG11):c.114G>A (p.Met38Ile) rs886051185 0.00001
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 0.00001
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp) rs1304995096 0.00001
NM_025137.4(SPG11):c.150G>C (p.Gln50His) rs745498485 0.00001
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys) rs758046989 0.00001
NM_025137.4(SPG11):c.1632A>G (p.Thr544=) rs368683333 0.00001
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly) rs763060505 0.00001
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala) rs566318835 0.00001
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu) rs749011406 0.00001
NM_025137.4(SPG11):c.2620+6T>C rs762381864 0.00001
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg) rs2083706533 0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg) rs752882400 0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser) rs758322703 0.00001
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly) rs377351819 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 0.00001
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His) rs373641013 0.00001
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val) rs768718170 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 0.00001
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys) rs200700774 0.00001
NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser) rs748925327 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met) rs766297012 0.00001
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser) rs376207036 0.00001
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) rs779161014 0.00001
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly) rs1185441476 0.00001
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys) rs201254271 0.00001
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=) rs375403626 0.00001
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=) rs570599267 0.00001
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser) rs2082706047 0.00001
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe) rs752725391 0.00001
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu) rs573482671 0.00001
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln) rs141262934 0.00001
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr) rs1179229360 0.00001
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln) rs1365555358 0.00001
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp) rs755438310 0.00001
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp) rs753980126 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=) rs146240471 0.00001
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu) rs752165478 0.00001
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys) rs373587870 0.00001
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=) rs376245210 0.00001
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro) rs1275110844 0.00001
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu) rs1350164343 0.00001
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys) rs375915115 0.00001
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile) rs779900397 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser) rs777798718 0.00001
NM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln) rs1318489141 0.00001
NM_145868.2(ANXA11):c.744+3G>A rs769390362 0.00001
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser) rs1259379217 0.00001
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg) rs945463572 0.00001
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) rs751472303 0.00001
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) rs542541060 0.00001
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) rs780959799 0.00001
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe) rs1358742335 0.00001
NM_213720.3(CHCHD10):c.408T>C (p.His136=) rs113677828 0.00001
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) rs1197865297 0.00001
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val) rs1244878740 0.00001
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser) rs1297070374 0.00001
NC_000001.10:g.(?_11073785)_(11082711_?)dup
NC_000002.11:g.(?_74588271)_(74607174_?)del
NC_000002.11:g.(?_74588626)_(74607164_?)dup
NC_000002.11:g.(?_74597072)_(74607164_?)dup
NC_000002.12:g.74371167CCT[3]
NC_000003.11:g.(?_87276673)_(87325612_?)del
NC_000005.10:g.(?_179836426)_(179836603_?)del
NC_000005.9:g.(?_138608441)_(138668366_?)del
NC_000005.9:g.(?_138643105)_(138644036_?)dup
NC_000005.9:g.(?_138643105)_(138665084_?)dup
NC_000005.9:g.(?_178413111)_(179263593_?)dup
NC_000005.9:g.(?_178770758)_(179263603_?)dup
NC_000005.9:g.(?_179220638)_(179263593_?)dup
NC_000005.9:g.(?_179260012)_(179260802_?)del
NC_000005.9:g.(?_179260567)_(179263593_?)dup
NC_000005.9:g.(?_179263416)_(179263593_?)del
NC_000009.11:g.(?_135139626)_(135158820_?)dup
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.11:g.(?_32453279)_(35068379_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34458984)_(36277059_?)dup
NC_000009.11:g.(?_34458994)_(35072710_?)dup
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NC_000009.12:g.27573529_27573534GGCCCC[24_30]
NC_000010.10:g.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.10:g.(?_13169725)_(13175601_?)del
NC_000010.11:g.(?_13118878)_(13119050_?)del
NC_000016.10:g.(?_31182388)_(31194881_?)dup
NC_000016.10:g.31184376GAGGTG[6]
NC_000020.10:g.(?_56964516)_(57019291_?)del
NC_000020.10:g.(?_56993257)_(57967907_?)dup
NC_000020.10:g.(?_57009638)_(57019291_?)dup
NC_000020.10:g.(?_57013981)_(57019291_?)dup
NC_000020.11:g.(?_58389109)_(58389527_?)del
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24108194)_(24108482_?)del
NC_000022.10:g.(?_24108194)_(24110061_?)del
NC_000022.10:g.(?_24108194)_(24110061_?)dup
NC_000022.10:g.(?_24109541)_(24110061_?)del
NC_000022.10:g.(?_24109541)_(24110081_?)del
NC_000022.11:g.(?_23765824)_(23767603_?)del
NC_000022.11:g.(?_23767364)_(23767982_?)del
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
NM_000344.4(SMN1):c.855_858del (p.Arg288fs) rs1475940018
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
NM_000344.4(SMN1):c.862A>G (p.Arg288Gly)
NM_000344.4(SMN1):c.862A>T (p.Arg288Trp)
NM_000344.4(SMN1):c.885A>G (p.Ter295=)
NM_000454.4(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.*273_*276del rs906761540
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.106A>T (p.Ile36Phe) rs1057524474
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup) rs2123431926
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys) rs1568809178
NM_000454.5(SOD1):c.16G>A (p.Val6Met)
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
NM_000454.5(SOD1):c.17T>C (p.Val6Ala) rs2123427988
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly) rs1457291290
NM_000454.5(SOD1):c.216C>G (p.His72Gln) rs368042695
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg) rs1555836720
NM_000454.5(SOD1):c.240-3T>C
NM_000454.5(SOD1):c.25C>G (p.Leu9Val) rs1568807333
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
NM_000454.5(SOD1):c.287C>T (p.Ala96Val) rs1568810690
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del) rs2123435528
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg) rs1568810758
NM_000454.5(SOD1):c.326_328del (p.Gly109del) rs2123435554
NM_000454.5(SOD1):c.331C>T (p.His111Tyr) rs2049603707
NM_000454.5(SOD1):c.357+2dup
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) rs1568811423
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu) rs1568811464
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser) rs121912449
NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)
NM_000454.5(SOD1):c.56T>C (p.Ile19Thr) rs1601153438
NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)
NM_000454.5(SOD1):c.72+20C>T
NM_000454.5(SOD1):c.75A>G (p.Glu25=) rs2049569274
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn) rs2123431867
NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg) rs1476174487
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr) rs201645533
NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu) rs548549089
NM_001003722.2(GLE1):c.1465G>A (p.Glu489Lys) rs1290402597
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe) rs1564162129
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.-184C>G rs955585590
NM_001008212.2(OPTN):c.-9A>G rs779282676
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser) rs1248850820
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
NM_001008212.2(OPTN):c.1242+6C>T rs906152658
NM_001008212.2(OPTN):c.1243-9C>A rs1833497674
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg) rs1045159479
NM_001008212.2(OPTN):c.1342A>G (p.Lys448Glu)
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln) rs2131528196
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu) rs1363384405
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer) rs1446908199
NM_001008212.2(OPTN):c.1613-1G>A
NM_001008212.2(OPTN):c.1613-3C>T rs2131534998
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) rs967459877
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp) rs767360238
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter) rs1275810602
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr) rs1564370960
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) rs1832936570
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) rs1832971194
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro) rs369071606
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr) rs1269604352
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala) rs372714385
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.447G>T (p.Arg149Ser) rs555741399
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp) rs113811959
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser) rs1833208430
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr) rs1450047435
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) rs760339006
NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
NM_001008212.2(OPTN):c.779+8A>G
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
NM_001008212.2(OPTN):c.780-3C>T
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln) rs1833371043
NM_001008212.2(OPTN):c.882+5G>A
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys) rs1833407271
NM_001008212.2(OPTN):c.949C>G (p.His317Asp) rs1387105883
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly) rs1564364468
NM_001080421.3(UNC13A):c.2318G>A (p.Arg773Gln)
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.324dup (p.Gly109fs) rs1886957607
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) rs535311762
NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val) rs1060499675
NM_001145.4(ANG):c.-115G>C rs886050397
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_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) rs768107851
NM_001166114.2(PNPLA6):c.649G>T (p.Gly217Cys) rs150620708
NM_001199397.3(NEK1):c.1900G>T (p.Glu634Ter) rs199678116
NM_001256054.3(C9orf72):c.-113C>G rs750403732
NM_001256054.3(C9orf72):c.-157G>A rs1819655845
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855
NM_001372574.1(ATXN2):c.2470A>C (p.Ile824Leu) rs1338140819
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr) rs762930876
NM_001376.5(DYNC1H1):c.4106A>G (p.Gln1369Arg) rs2141285787
NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn)
NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val)
NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg)
NM_001378743.1(CYLD):c.1087G>C (p.Val363Leu)
NM_001378743.1(CYLD):c.1121C>T (p.Thr374Ile)
NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser)
NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu)
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg) rs200759332
NM_001378743.1(CYLD):c.1190G>A (p.Arg397His)
NM_001378743.1(CYLD):c.1208A>C (p.Gln403Pro)
NM_001378743.1(CYLD):c.1249C>T (p.His417Tyr)
NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu)
NM_001378743.1(CYLD):c.1289A>G (p.Asn430Ser)
NM_001378743.1(CYLD):c.1331C>G (p.Ser444Cys)
NM_001378743.1(CYLD):c.1402C>T (p.His468Tyr)
NM_001378743.1(CYLD):c.1433T>C (p.Val478Ala)
NM_001378743.1(CYLD):c.1435A>G (p.Lys479Glu)
NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys)
NM_001378743.1(CYLD):c.158G>A (p.Arg53His)
NM_001378743.1(CYLD):c.1724C>T (p.Thr575Ile)
NM_001378743.1(CYLD):c.1763T>C (p.Ile588Thr)
NM_001378743.1(CYLD):c.1827-3C>A
NM_001378743.1(CYLD):c.1882A>G (p.Asn628Asp)
NM_001378743.1(CYLD):c.190A>G (p.Lys64Glu)
NM_001378743.1(CYLD):c.1949T>A (p.Ile650Lys)
NM_001378743.1(CYLD):c.208A>G (p.Ile70Val)
NM_001378743.1(CYLD):c.2119C>A (p.Gln707Lys)
NM_001378743.1(CYLD):c.2172A>C (p.Lys724Asn)
NM_001378743.1(CYLD):c.2242G>A (p.Ala748Thr)
NM_001378743.1(CYLD):c.228G>C (p.Glu76Asp)
NM_001378743.1(CYLD):c.2410G>A (p.Asp804Asn)
NM_001378743.1(CYLD):c.241G>T (p.Val81Phe)
NM_001378743.1(CYLD):c.2426C>T (p.Ser809Leu)
NM_001378743.1(CYLD):c.2434A>G (p.Lys812Glu)
NM_001378743.1(CYLD):c.2462A>G (p.Asn821Ser)
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile) rs775394735
NM_001378743.1(CYLD):c.2482C>T (p.Pro828Ser)
NM_001378743.1(CYLD):c.2495A>G (p.Asn832Ser)
NM_001378743.1(CYLD):c.2512G>A (p.Val838Met)
NM_001378743.1(CYLD):c.2512G>C (p.Val838Leu)
NM_001378743.1(CYLD):c.2538C>A (p.Asp846Glu)
NM_001378743.1(CYLD):c.2554G>A (p.Gly852Ser)
NM_001378743.1(CYLD):c.2570A>T (p.Gln857Leu)
NM_001378743.1(CYLD):c.2578G>C (p.Glu860Gln)
NM_001378743.1(CYLD):c.2644G>A (p.Asp882Asn)
NM_001378743.1(CYLD):c.2650G>T (p.Ala884Ser)
NM_001378743.1(CYLD):c.2678A>G (p.Asp893Gly)
NM_001378743.1(CYLD):c.274A>G (p.Ile92Val)
NM_001378743.1(CYLD):c.284A>G (p.Lys95Arg)
NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn)
NM_001378743.1(CYLD):c.305C>T (p.Ala102Val)
NM_001378743.1(CYLD):c.335T>A (p.Leu112Gln)
NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln)
NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys)
NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys)
NM_001378743.1(CYLD):c.522A>C (p.Gln174His)
NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp)
NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala)
NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro)
NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser)
NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly)
NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr)
NM_001378743.1(CYLD):c.676G>A (p.Glu226Lys)
NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro)
NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser)
NM_001378743.1(CYLD):c.694A>G (p.Ile232Val)
NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe)
NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala)
NM_001378743.1(CYLD):c.730A>G (p.Ile244Val)
NM_001378743.1(CYLD):c.761T>G (p.Val254Gly)
NM_001378743.1(CYLD):c.829G>A (p.Asp277Asn)
NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn)
NM_001378743.1(CYLD):c.895A>G (p.Ile299Val)
NM_001378743.1(CYLD):c.932C>T (p.Thr311Met)
NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg)
NM_001378743.1(CYLD):c.98A>G (p.Lys33Arg)
NM_001393704.1(MOBP):c.514C>A (p.Arg172Ser) rs1188260744
NM_001761.3(CCNF):c.1715G>T (p.Arg572Leu)
NM_001761.3(CCNF):c.205C>T (p.His69Tyr)
NM_001761.3(CCNF):c.436G>A (p.Ala146Thr)
NM_001761.3(CCNF):c.481G>A (p.Gly161Arg)
NM_001761.3(CCNF):c.62G>A (p.Arg21Gln)
NM_001917.5(DAO):c.212C>T (p.Thr71Ile) rs138277420
NM_001917.5(DAO):c.34G>A (p.Gly12Arg) rs373913310
NM_001917.5(DAO):c.962G>A (p.Gly321Glu) rs2039610204
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=) rs765964997
NM_003900.5(SQSTM1):c.-27C>T rs781131232
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn) rs1554091442
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr) rs774512680
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln) rs765610848
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs) rs1758356210
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) rs2113512735
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val) rs2113512757
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys) rs1582022482
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) rs2113512860
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu) rs1298281008
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg) rs2113513106
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
NM_003900.5(SQSTM1):c.1166-2A>G
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr) rs2113524011
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn) rs2113524028
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr) rs1471635040
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser) rs1377640860
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) rs2113524491
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) rs770118706
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His) rs2113524577
NM_003900.5(SQSTM1):c.1306C>T (p.His436Tyr) rs534476029
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu) rs778461636
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) rs2113480023
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser) rs1411304344
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
NM_003900.5(SQSTM1):c.200A>G (p.Tyr67Cys)
NM_003900.5(SQSTM1):c.206-9A>G rs2113484953
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp) rs2113484986
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala) rs1757838607
NM_003900.5(SQSTM1):c.240C>G (p.Asp80Glu) rs148366738
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile) rs1274176534
NM_003900.5(SQSTM1):c.301+6G>C
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del) rs2113487449
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly) rs1757886934
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile) rs1562654519
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met) rs1582007866
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) rs753212399
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu) rs372480231
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=) rs35266480
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln) rs118160361
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) rs1229776140
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala) rs1392938040
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn) rs1757907176
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) rs1562655554
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg) rs373585056
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val) rs377371202
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) rs1256909021
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu) rs1757909856
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser) rs1370363543
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del) rs747274001
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) rs201263163
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
NM_003900.5(SQSTM1):c.674-18T>G rs1317780724
NM_003900.5(SQSTM1):c.674-8A>G
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) rs1467107148
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
NM_003900.5(SQSTM1):c.754+5G>A
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr) rs753016349
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile) rs182522590
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala) rs988411948
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly) rs988411948
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) rs372827450
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser) rs745853858
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe) rs202119215
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly) rs2113510695
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr) rs760785371
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr) rs764205744
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu) rs754060027
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg) rs1012113887
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys) rs764111892
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg) rs2113510972
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met) rs200695664
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=) rs2113511316
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys) rs1436000961
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys) rs1358261412
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu) rs1185406298
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147
NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala) rs2103659798
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
NM_004082.5(DCTN1):c.1048+3A>C rs1674767158
NM_004082.5(DCTN1):c.1048+4A>G rs1309897356
NM_004082.5(DCTN1):c.1048+6G>A
NM_004082.5(DCTN1):c.1054G>C (p.Asp352His)
NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)
NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)
NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr) rs1034996844
NM_004082.5(DCTN1):c.1106G>A (p.Arg369His)
NM_004082.5(DCTN1):c.1127+6G>A rs951022782
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu) rs570863800
NM_004082.5(DCTN1):c.1132C>T (p.Arg378Trp)
NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln)
NM_004082.5(DCTN1):c.1165G>A (p.Val389Met)
NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn) rs1674740605
NM_004082.5(DCTN1):c.1199A>C (p.Gln400Pro)
NM_004082.5(DCTN1):c.11G>A (p.Ser4Asn)
NM_004082.5(DCTN1):c.1203G>T (p.Glu401Asp) rs2103655781
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter) rs2103723456
NM_004082.5(DCTN1):c.1231C>T (p.Arg411Cys)
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu) rs186892779
NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly) rs1674734372
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala) rs2103654759
NM_004082.5(DCTN1):c.1287+5G>A
NM_004082.5(DCTN1):c.1288-10C>G rs72659375
NM_004082.5(DCTN1):c.1288-1G>A rs2103653438
NM_004082.5(DCTN1):c.1288-7_1289del rs1674719585
NM_004082.5(DCTN1):c.1288G>A (p.Val430Met)
NM_004082.5(DCTN1):c.1292A>G (p.Asp431Gly)
NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr) rs1573161529
NM_004082.5(DCTN1):c.1333G>C (p.Asp445His)
NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys) rs2103652994
NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys) rs2103652794
NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly) rs1558941192
NM_004082.5(DCTN1):c.1393-13T>C
NM_004082.5(DCTN1):c.1396G>A (p.Ala466Thr)
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile) rs1573179028
NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys) rs1558940606
NM_004082.5(DCTN1):c.1436G>T (p.Arg479Leu)
NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met)
NM_004082.5(DCTN1):c.1481C>A (p.Ala494Glu)
NM_004082.5(DCTN1):c.1499A>G (p.Gln500Arg)
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1514C>T (p.Ala505Val)
NM_004082.5(DCTN1):c.1552AAG[1] (p.Lys519del) rs2103645875
NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser) rs2103723246
NM_004082.5(DCTN1):c.1562G>A (p.Arg521His)
NM_004082.5(DCTN1):c.1584+2T>C
NM_004082.5(DCTN1):c.1584+5A>G rs1283119090
NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser) rs367910524
NM_004082.5(DCTN1):c.1594C>T (p.Arg532Trp)
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu) rs759306485
NM_004082.5(DCTN1):c.1606A>C (p.Asn536His) rs1553464927
NM_004082.5(DCTN1):c.1615G>A (p.Glu539Lys)
NM_004082.5(DCTN1):c.1616A>G (p.Glu539Gly)
NM_004082.5(DCTN1):c.1618G>A (p.Ala540Thr)
NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile)
NM_004082.5(DCTN1):c.1636C>T (p.Gln546Ter)
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu) rs2103644049
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
NM_004082.5(DCTN1):c.1684A>T (p.Thr562Ser)
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
NM_004082.5(DCTN1):c.1702-3C>A
NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn) rs1553464828
NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr) rs2103640952
NM_004082.5(DCTN1):c.1732G>A (p.Val578Met) rs1674617834
NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly) rs1288295388
NM_004082.5(DCTN1):c.1750C>A (p.His584Asn) rs2103640754
NM_004082.5(DCTN1):c.1752C>A (p.His584Gln) rs1345909454
NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
NM_004082.5(DCTN1):c.178G>A (p.Val60Met) rs74768853
NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly) rs1674611581
NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys) rs1674609133
NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
NM_004082.5(DCTN1):c.1844T>A (p.Leu615His) rs1674608736
NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter) rs1674561364
NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu) rs201095249
NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter) rs866457869
NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln) rs555733849
NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile) rs1558938711
NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg) rs2103632771
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val) rs886039228
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
NM_004082.5(DCTN1):c.2015+1G>C rs2103632452
NM_004082.5(DCTN1):c.2016-3T>C
NM_004082.5(DCTN1):c.2016-6C>A rs1573155729
NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe) rs368531137
NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly) rs2103630948
NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn) rs72659377
NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln) rs1674536343
NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr) rs2103630505
NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys) rs1674533703
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe) rs374500944
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys) rs1287560245
NM_004082.5(DCTN1):c.2185-3C>T
NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
NM_004082.5(DCTN1):c.2237T>C (p.Leu746Pro) rs1674497225
NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser) rs2103722715
NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg) rs2104418971
NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu) rs1410846987
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
NM_004082.5(DCTN1):c.2316+5G>A rs913439751
NM_004082.5(DCTN1):c.2317-2A>T rs980571603
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His) rs1558948987
NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val) rs1558937413
NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val) rs2104417734
NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val) rs2104417597
NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)
NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg) rs1297844991
NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn)
NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg) rs1674452900
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val) rs573330919
NM_004082.5(DCTN1):c.2405G>A (p.Arg802Gln)
NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter) rs1674450649
NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu) rs1573152954
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly) rs372500630
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)
NM_004082.5(DCTN1):c.2467-8G>A
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro) rs1470946965
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg) rs2104415444
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu) rs75213803
NM_004082.5(DCTN1):c.2550G>C (p.Gln850His) rs2104415238
NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys)
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
NM_004082.5(DCTN1):c.2608G>A (p.Ala870Thr) rs1267339489
NM_004082.5(DCTN1):c.2612T>C (p.Phe871Ser)
NM_004082.5(DCTN1):c.2628+5G>T
NM_004082.5(DCTN1):c.2629-7C>A rs1278207608
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp) rs1437825772
NM_004082.5(DCTN1):c.2681A>G (p.Asn894Ser) rs1207333910
NM_004082.5(DCTN1):c.269G>A (p.Arg90His)
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)
NM_004082.5(DCTN1):c.2719A>G (p.Met907Val) rs1459064982
NM_004082.5(DCTN1):c.2731dup (p.Glu911fs) rs1573151165
NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)
NM_004082.5(DCTN1):c.2749C>T (p.Pro917Ser)
NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs) rs1674376535
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) rs373818927
NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)
NM_004082.5(DCTN1):c.279G>A (p.Gln93=) rs1675325580
NM_004082.5(DCTN1):c.2808del (p.Asp937fs) rs1674375059
NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn) rs2104411784
NM_004082.5(DCTN1):c.280A>G (p.Ile94Val)
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
NM_004082.5(DCTN1):c.2879A>G (p.Lys960Arg) rs1354697657
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala) rs1675306520
NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)
NM_004082.5(DCTN1):c.2895G>T (p.Glu965Asp)
NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser) rs568812456
NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met) rs2104409827
NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro)
NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del) rs1371339798
NM_004082.5(DCTN1):c.2938T>A (p.Leu980Met)
NM_004082.5(DCTN1):c.2951C>T (p.Ala984Val)
NM_004082.5(DCTN1):c.2963A>T (p.Asp988Val)
NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu) rs1674344495
NM_004082.5(DCTN1):c.2964T>G (p.Asp988Glu)
NM_004082.5(DCTN1):c.2968C>T (p.Arg990Cys)
NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys) rs768409522
NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala) rs1558935430
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp) rs1030053524
NM_004082.5(DCTN1):c.3017G>A (p.Arg1006Gln) rs752882353
NM_004082.5(DCTN1):c.3029+19G>T rs201665169
NM_004082.5(DCTN1):c.3029+5G>A
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu) rs1674319515
NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)
NM_004082.5(DCTN1):c.305A>G (p.Asp102Gly)
NM_004082.5(DCTN1):c.3067A>G (p.Ile1023Val)
NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn) rs1558935068
NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)
NM_004082.5(DCTN1):c.310A>G (p.Thr104Ala)
NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg)
NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met)
NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe)
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr) rs1187766749
NM_004082.5(DCTN1):c.3157C>G (p.Pro1053Ala)
NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)
NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)
NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser) rs1470101332
NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val) rs752323459
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=) rs1213472053
NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp)
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
NM_004082.5(DCTN1):c.3212-2A>G rs1674169667
NM_004082.5(DCTN1):c.3212-3C>T
NM_004082.5(DCTN1):c.3236G>A (p.Gly1079Glu)
NM_004082.5(DCTN1):c.3259G>C (p.Val1087Leu)
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)
NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)
NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe) rs762263842
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys) rs1246390551
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
NM_004082.5(DCTN1):c.3310A>G (p.Ile1104Val)
NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg) rs1244901384
NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys) rs765267495
NM_004082.5(DCTN1):c.332C>A (p.Ser111Tyr) rs374419252
NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)
NM_004082.5(DCTN1):c.3335G>C (p.Ser1112Thr)
NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=)
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
NM_004082.5(DCTN1):c.3391G>T (p.Val1131Phe) rs1296558175
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu) rs1064797254
NM_004082.5(DCTN1):c.34-1G>C
NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)
NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg) rs1674138994
NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)
NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly) rs1573142045
NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr) rs1399568739
NM_004082.5(DCTN1):c.3434C>G (p.Ala1145Gly)
NM_004082.5(DCTN1):c.3445T>C (p.Tyr1149His)
NM_004082.5(DCTN1):c.345A>G (p.Lys115=) rs1675303256
NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg) rs1674134327
NM_004082.5(DCTN1):c.3490A>T (p.Thr1164Ser) rs72466493
NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg) rs376549770
NM_004082.5(DCTN1):c.3499C>A (p.His1167Asn) rs2104395345
NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys) rs1442881228
NM_004082.5(DCTN1):c.3530-1G>A rs2104393432
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004082.5(DCTN1):c.3542C>G (p.Pro1181Arg) rs1403208705
NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu) rs1403208705
NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val) rs1477782343
NM_004082.5(DCTN1):c.3559G>C (p.Glu1187Gln) rs1485769288
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=) rs1674099395
NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
NM_004082.5(DCTN1):c.3609+20C>T
NM_004082.5(DCTN1):c.3610-13_3612del rs2104389854
NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)
NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg) rs565866230
NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del) rs1364182022
NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser) rs184147813
NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala) rs886070472
NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His) rs1276978486
NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)
NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)
NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)
NM_004082.5(DCTN1):c.3700-3C>G
NM_004082.5(DCTN1):c.3700-3C>T rs747435830
NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val) rs1200946425
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg) rs769430160
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys) rs752422008
NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn) rs2104386809
NM_004082.5(DCTN1):c.374C>T (p.Thr125Ile) rs1275593815
NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu) rs1673994728
NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala) rs766778493
NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)
NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg) rs1238095268
NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr) rs1553466338
NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr) rs1375787578
NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met) rs2104386411
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) rs146083590
NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg) rs751431467
NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu) rs1673987624
NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)
NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
NM_004082.5(DCTN1):c.394-2dup rs1403988786
NM_004082.5(DCTN1):c.394-3C>T
NM_004082.5(DCTN1):c.394C>T (p.Arg132Trp)
NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln) rs1675250026
NM_004082.5(DCTN1):c.414+1G>T rs576198476
NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu) rs147939455
NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg) rs2103694207
NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly) rs781290307
NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln) rs764615912
NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
NM_004082.5(DCTN1):c.432+1G>T rs1235693710
NM_004082.5(DCTN1):c.433-3C>T rs375832615
NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly) rs148810193
NM_004082.5(DCTN1):c.453+6A>G
NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser) rs746429168
NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly) rs1445980252
NM_004082.5(DCTN1):c.518C>T (p.Ala173Val) rs1445980252
NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn) rs1365948671
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser) rs1674861180
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu) rs1057518814
NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
NM_004082.5(DCTN1):c.5C>T (p.Ala2Val) rs1675439973
NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser) rs770302677
NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln) rs112725508
NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg) rs112725508
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu) rs112725508
NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg) rs1558943273
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu) rs754827026
NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln) rs1573164746
NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr) rs372733713
NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser) rs1674806644
NM_004082.5(DCTN1):c.742C>G (p.Leu248Val) rs112475795
NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
NM_004082.5(DCTN1):c.793A>T (p.Met265Leu) rs2103663572
NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
NM_004082.5(DCTN1):c.833A>T (p.Glu278Val) rs1553465344
NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr) rs1674798940
NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
NM_004082.5(DCTN1):c.844-2A>G rs2103661242
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg) rs755017882
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val) rs896989123
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) rs1200414397
NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly) rs759253635
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg) rs760539371
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp) rs1064797256
NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
NM_004738.5(VAPB):c.*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.*5500A>G rs1989390124
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.-152C>A rs753958893
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) rs755474083
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) rs781691837
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) rs777026649
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
NM_004738.5(VAPB):c.159del (p.Cys53fs)
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
NM_004738.5(VAPB):c.194C>T (p.Ala65Val) rs1555813002
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) rs762603323
NM_004738.5(VAPB):c.212-12T>C rs1988997194
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) rs2123088879
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) rs2123088925
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) rs1431840351
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) rs1987730075
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) rs760656837
NM_004738.5(VAPB):c.396+6T>C
NM_004738.5(VAPB):c.421A>G (p.Ile141Val) rs1392475929
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) rs1989146263
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
NM_004738.5(VAPB):c.457G>A (p.Val153Met) rs1362788253
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) rs1555815825
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) rs2123099930
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) rs1989148708
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) rs1039112226
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) rs1568720020
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) rs145483046
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) rs1252954619
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) rs371134278
NM_004738.5(VAPB):c.59-3C>T
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) rs757786343
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) rs1989221617
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) rs1989222839
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) rs763755820
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) rs1439925669
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) rs2123105103
NM_004738.5(VAPB):c.677C>T (p.Ala226Val) rs2123105103
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
NM_004738.5(VAPB):c.688T>G (p.Leu230Val) rs1600821730
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
NM_004738.5(VAPB):c.709A>G (p.Ile237Val) rs1555816248
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) rs2123058661
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) rs2123058664
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) rs1293144080
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
NM_004960.3(FUS):c.*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.*3092C>T rs886051958
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.*953G>T rs2079374011
NM_004960.3(FUS):c.515_523+3del
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.1055A>T (p.Asp352Val)
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys) rs773141319
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala) rs560450437
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu) rs886051936
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
NM_004960.4(FUS):c.13+11_13+13del rs1057518893
NM_004960.4(FUS):c.1317T>C (p.Ser439=) rs377010944
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser) rs753458243
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1542-1G>T rs1596914113
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp) rs2079357583
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
NM_004960.4(FUS):c.1550A>G (p.His517Arg) rs1085308015
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly) rs1409962577
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu) rs1567479067
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_004960.4(FUS):c.1573C>G (p.Pro525Ala) rs1555509699
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del) rs777545405
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
NM_004960.4(FUS):c.215C>T (p.Pro72Leu) rs2144107259
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr) rs2079220021
NM_004960.4(FUS):c.335+6G>C
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
NM_004960.4(FUS):c.39-18G>A
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
NM_004960.4(FUS):c.40T>A (p.Tyr14Asn) rs2079194587
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1]) rs747579808
NM_004960.4(FUS):c.474G>C (p.Gln158His)
NM_004960.4(FUS):c.493A>G (p.Ser165Gly) rs1325339011
NM_004960.4(FUS):c.493_495del (p.Ser165del) rs2079227565
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
NM_004960.4(FUS):c.524-7C>T rs747200795
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.537A>C (p.Gln179His)
NM_004960.4(FUS):c.550A>G (p.Met184Val)
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
NM_004960.4(FUS):c.571G>A (p.Gly191Ser) rs148758737
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
NM_004960.4(FUS):c.636C>A (p.Asp212Glu)
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
NM_004960.4(FUS):c.647G>A (p.Arg216His)
NM_004960.4(FUS):c.649G>C (p.Gly217Arg) rs565915110
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del) rs756437417
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup) rs72550890
NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup) rs757651881
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup) rs757651881
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
NM_004960.4(FUS):c.691G>A (p.Gly231Ser) rs2144114616
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
NM_004960.4(FUS):c.731G>A (p.Arg244His)
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
NM_004960.4(FUS):c.743G>A (p.Arg248His) rs760351730
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
NM_004960.4(FUS):c.823C>T (p.His275Tyr)
NM_004960.4(FUS):c.824A>G (p.His275Arg) rs1405011209
NM_004960.4(FUS):c.831C>T (p.Ser277=)
NM_004960.4(FUS):c.833-6A>G
NM_004960.4(FUS):c.833-9A>T rs1055720509
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)
NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu)
NM_005235.3(ERBB4):c.1289+1G>C
NM_005235.3(ERBB4):c.1885A>G (p.Thr629Ala)
NM_005235.3(ERBB4):c.2487+8_2487+11del
NM_005235.3(ERBB4):c.2525G>A (p.Arg842Gln)
NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser) rs2125319546
NM_005235.3(ERBB4):c.3337A>G (p.Lys1113Glu) rs2062698939
NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg)
NM_005235.3(ERBB4):c.3878G>A (p.Gly1293Asp)
NM_005235.3(ERBB4):c.472G>A (p.Ala158Thr)
NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)
NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn) rs2061187258
NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu) rs2132330402
NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys) rs867727095
NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) rs779459049
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu) rs2132329730
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) rs1382890194
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) rs1820911034
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) rs768933234
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) rs768933234
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) rs1820909011
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys) rs1234992727
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) rs200076129
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala) rs2132324643
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp) rs1820834441
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) rs1820832825
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del) rs2132324233
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) rs777650644
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) rs777650644
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu) rs1406092949
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) rs1820825348
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) rs1396152845
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs) rs752243393
NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His) rs764002616
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) rs1564096623
NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro) rs1820931363
NM_006000.3(TUBA4A):c.1015C>T (p.Arg339Cys)
NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg)
NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
NM_006000.3(TUBA4A):c.648C>A (p.Asn216Lys)
NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)
NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val)
NM_006262.4(PRPH):c.1235A>C (p.His412Pro)
NM_006262.4(PRPH):c.190C>T (p.Arg64Ter) rs1943161245
NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter) rs779016234
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.1031T>C (p.Met344Thr)
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu) rs1828722725
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) rs1563977665
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser)
NM_007126.5(VCP):c.1180G>A (p.Val394Met) rs1587122661
NM_007126.5(VCP):c.1186C>G (p.Leu396Val) rs2131031813
NM_007126.5(VCP):c.1197A>G (p.Val399=) rs886044575
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser)
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile) rs148329626
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly) rs2131031304
NM_007126.5(VCP):c.1283A>T (p.Asp428Val) rs2131031300
NM_007126.5(VCP):c.1293C>T (p.Asp431=) rs1828712869
NM_007126.5(VCP):c.130-9T>C rs1828868223
NM_007126.5(VCP):c.1307C>T (p.Thr436Ile)
NM_007126.5(VCP):c.1309A>G (p.Ile437Val)
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr)
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys) rs955652521
NM_007126.5(VCP):c.1324A>G (p.Met442Val) rs1828712085
NM_007126.5(VCP):c.1357C>T (p.Arg453Trp) rs755519450
NM_007126.5(VCP):c.1374G>C (p.Gln458His) rs1060499674
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly) rs1554668345
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)
NM_007126.5(VCP):c.1696-34_1716dup rs2131029563
NM_007126.5(VCP):c.1696-3C>T
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
NM_007126.5(VCP):c.1790C>T (p.Ala597Val) rs890637602
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala) rs2131029426
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) rs886063892
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser) rs1828681453
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile)
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) rs765795425
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser) rs2131029246
NM_007126.5(VCP):c.2004+8C>T
NM_007126.5(VCP):c.2014T>G (p.Leu672Val) rs757829124
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys)
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)
NM_007126.5(VCP):c.211G>A (p.Val71Ile)
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln)
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala)
NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
NM_007126.5(VCP):c.2228C>T (p.Ala743Val) rs771662410
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys) rs2131026595
NM_007126.5(VCP):c.2234G>A (p.Arg745His)
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) rs1828632660
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys) rs1587117319
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
NM_007126.5(VCP):c.2315+6T>C
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) rs1828626335
NM_007126.5(VCP):c.2345G>T (p.Gly782Val) rs1828626335
NM_007126.5(VCP):c.2381G>A (p.Ser794Asn)
NM_007126.5(VCP):c.244A>C (p.Ile82Leu)
NM_007126.5(VCP):c.265C>T (p.Arg89Trp) rs1828865320
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)
NM_007126.5(VCP):c.268A>G (p.Asn90Asp) rs1828865209
NM_007126.5(VCP):c.273C>G (p.Asn91Lys) rs1563980966
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
NM_007126.5(VCP):c.310C>T (p.Pro104Ser) rs1186937475
NM_007126.5(VCP):c.313T>C (p.Cys105Arg) rs1828842736
NM_007126.5(VCP):c.320A>T (p.Asp107Val) rs1563980440
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
NM_007126.5(VCP):c.365C>T (p.Thr122Ile) rs2131038987
NM_007126.5(VCP):c.367G>A (p.Val123Met) rs2131038977
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
NM_007126.5(VCP):c.377T>G (p.Ile126Ser) rs1828841085
NM_007126.5(VCP):c.380C>T (p.Thr127Ile)
NM_007126.5(VCP):c.382G>C (p.Gly128Arg)
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) rs1554668979
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
NM_007126.5(VCP):c.400T>C (p.Tyr134His)
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys) rs1828840466
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)
NM_007126.5(VCP):c.407A>C (p.Lys136Thr)
NM_007126.5(VCP):c.445+8C>G
NM_007126.5(VCP):c.446-4_446-3delinsAT rs1828808684
NM_007126.5(VCP):c.453T>G (p.Ile151Met) rs1828808459
NM_007126.5(VCP):c.460G>T (p.Val154Phe) rs1587127201
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
NM_007126.5(VCP):c.479C>T (p.Ala160Val) rs1554668804
NM_007126.5(VCP):c.486G>C (p.Glu162Asp)
NM_007126.5(VCP):c.487T>A (p.Phe163Ile)
NM_007126.5(VCP):c.512G>A (p.Ser171Asn) rs200911363
NM_007126.5(VCP):c.512G>T (p.Ser171Ile) rs200911363
NM_007126.5(VCP):c.523A>G (p.Ile175Val) rs1828806031
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
NM_007126.5(VCP):c.577-2A>G rs1828784075
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
NM_007126.5(VCP):c.591C>G (p.Ser197=) rs866003333
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
NM_007126.5(VCP):c.636G>C (p.Gln212His)
NM_007126.5(VCP):c.648A>G (p.Ile216Met) rs1828783140
NM_007126.5(VCP):c.677A>T (p.His226Leu) rs2131035134
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
NM_007126.5(VCP):c.760A>T (p.Ile254Phe)
NM_007126.5(VCP):c.767G>A (p.Arg256Gln) rs1828757317
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) rs1828756507
NM_007126.5(VCP):c.810T>C (p.Asn270=) rs1372175418
NM_007126.5(VCP):c.811+2_811+3inv
NM_007126.5(VCP):c.82G>A (p.Val28Ile) rs1480586527
NM_007126.5(VCP):c.84T>A (p.Val28=) rs1587130660
NM_007126.5(VCP):c.94A>G (p.Ile32Val) rs1828872947
NM_007126.5(VCP):c.995T>C (p.Met332Thr) rs1828737891
NM_007204.5(DDX20):c.2237T>C (p.Leu746Ser) rs1663787736
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*159A>C rs886045037
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.*2360C>T rs886045049
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.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) rs1553159719
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) rs1570725407
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) rs1643661597
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) rs147795017
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) rs2100857066
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) rs80356743
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) rs2100857132
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) rs1643465434
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile) rs1553159049
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln) rs1219922877
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
NM_007375.4(TARDBP):c.67G>A (p.Asp23Asn)
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) rs80356728
NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) rs1292893658
NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) rs1589410819
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
NM_013254.4(TBK1):c.1051G>A (p.Glu351Lys)
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser) rs2136056628
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile) rs1592369002
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp) rs1267274595
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
NM_013254.4(TBK1):c.1249-5A>C
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile) rs201332131
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln) rs2136079527
NM_013254.4(TBK1):c.1340+3A>G
NM_013254.4(TBK1):c.1341-10_1341-9del
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu) rs1565821771
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser) rs369875862
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala) rs2136056652
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser) rs2136082596
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala) rs1010930015
NM_013254.4(TBK1):c.14C>A (p.Ser5Tyr)
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met) rs375618295
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys) rs922333386
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg) rs2040916858
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro) rs1192216525
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp) rs2040917422
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys) rs776059942
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
NM_013254.4(TBK1):c.1720+2dup rs2136087264
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly) rs767446906
NM_013254.4(TBK1):c.172G>A (p.Val58Met) rs1042991833
NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly) rs2040925135
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.1761-3C>G
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu) rs1565824642
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile) rs2136088188
NM_013254.4(TBK1):c.1852G>A (p.Glu618Lys)
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile) rs2136088345
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
NM_013254.4(TBK1):c.1887G>C (p.Gln629His) rs752047246
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del) rs2136088359
NM_013254.4(TBK1):c.1895C>T (p.Ser632Leu)
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn) rs1592376939
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly) rs2136089009
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser) rs1306279522
NM_013254.4(TBK1):c.2067-7T>A rs1187318445
NM_013254.4(TBK1):c.2067-7_2067-3del
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser) rs2136089194
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del) rs2040947403
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
NM_013254.4(TBK1):c.2139-7G>A rs534404556
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser) rs2136092217
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val) rs2136092255
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser) rs2136092274
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
NM_013254.4(TBK1):c.228+4A>C rs2136056750
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile) rs767134050
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
NM_013254.4(TBK1):c.358+5G>A rs2136061124
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr) rs2136052738
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys) rs55824172
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_013254.4(TBK1):c.511G>A (p.Val171Ile) rs2136063606
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile) rs2136063629
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
NM_013254.4(TBK1):c.535T>C (p.Tyr179His) rs2136063631
NM_013254.4(TBK1):c.541-3T>G rs747738866
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu) rs781700275
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile) rs2136069875
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp) rs576726084
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr) rs1555203984
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
NM_013254.4(TBK1):c.813-3T>C rs2040770701
NM_013254.4(TBK1):c.813-7A>C rs376075252
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe) rs2136052800
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
NM_013254.4(TBK1):c.94G>A (p.Gly32Ser) rs1943095779
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.1003A>T (p.Thr335Ser)
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile) rs917131397
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) rs748840115
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
NM_013444.4(UBQLN2):c.1126A>G (p.Ile376Val)
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly) rs2068634857
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu) rs756653207
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala) rs2146636525
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg) rs387906709
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala)
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu) rs1602589802
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) rs2068639281
NM_013444.4(UBQLN2):c.278A>G (p.His93Arg) rs2146635699
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln) rs1602589042
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val) rs2146635566
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) rs1360902821
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr) rs749463696
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg) rs2146636094
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His) rs2068632850
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu) rs1555977386
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
NM_014043.4(CHMP2B):c.*1080C>T rs963258376
NM_014043.4(CHMP2B):c.*121G>A rs1706359144
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.*968G>A rs886058910
NM_014043.4(CHMP2B):c.-38C>T rs886058905
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=) rs1706200423
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu) rs1706202120
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr) rs2106908498
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys) rs747904374
NM_014043.4(CHMP2B):c.34+6T>C
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val) rs1706285788
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp) rs2106916834
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp) rs2106917283
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln) rs750217435
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser) rs775142652
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) rs774853645
NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly)
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.143A>G (p.Asp48Gly)
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_014845.6(FIG4):c.1619C>T (p.Thr540Ile) rs1057519386
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
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.2509C>T (p.Gln837Ter)
NM_014845.6(FIG4):c.2546+5G>C rs1060501401
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) rs397509395
NM_014845.6(FIG4):c.397A>G (p.Ile133Val) rs777011122
NM_014845.6(FIG4):c.67-1G>T
NM_014845.6(FIG4):c.670C>T (p.Pro224Ser)
NM_014845.6(FIG4):c.837T>G (p.Phe279Leu)
NM_015046.5(SETX):c.-190G>A rs1055615359
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser) rs2131461800
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) rs754200234
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) rs1589791895
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) rs1847120441
NM_015046.7(SETX):c.1621A>G (p.Ser541Gly)
NM_015046.7(SETX):c.173A>G (p.His58Arg)
NM_015046.7(SETX):c.177+6A>G rs2131575018
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.1934T>A (p.Phe645Tyr) rs2131457188
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) rs1339144218
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) rs2131454695
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) rs2131453786
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
NM_015046.7(SETX):c.2516A>T (p.His839Leu) rs1847047743
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) rs774820992
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) rs2131450530
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) rs1258279869
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) rs931570379
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) rs1278965355
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) rs866546546
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) rs1846954116
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) rs1846942479
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) rs2131440671
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3734C>T (p.Thr1245Ile)
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) rs2131440106
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) rs2131439346
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.388+8T>G
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) rs199974622
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
NM_015046.7(SETX):c.4559T>C (p.Ile1520Thr)
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) rs2131431252
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) rs781383567
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) rs1846817047
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
NM_015046.7(SETX):c.5054C>G (p.Ser1685Cys) rs1846780010
NM_015046.7(SETX):c.5065A>T (p.Asn1689Tyr) rs2131426426
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu) rs1846757741
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) rs2131306081
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
NM_015046.7(SETX):c.5693G>A (p.Ser1898Asn)
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) rs1844774142
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5949+4_5949+7del rs1844702677
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) rs2131289331
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser) rs2131284986
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.6106+8A>G rs1314479594
NM_015046.7(SETX):c.6107-3C>T
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) rs762479596
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
NM_015046.7(SETX):c.6205A>G (p.Met2069Val)
NM_015046.7(SETX):c.6209-12T>G
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>G
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) rs1589647043
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) rs957607977
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) rs1843647719
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu) rs1843510567
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6635C>G (p.Pro2212Arg)
NM_015046.7(SETX):c.6654+5G>A rs1843497922
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys) rs2131182464
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) rs1843274414
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) rs1843272035
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) rs1843271572
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
NM_015046.7(SETX):c.6970A>G (p.Met2324Val)
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-16T>C
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp) rs2131148064
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) rs150489999
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
NM_015046.7(SETX):c.7235T>C (p.Ile2412Thr) rs2131137949
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
NM_015046.7(SETX):c.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
NM_015046.7(SETX):c.7360A>G (p.Asn2454Asp)
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) rs753051382
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) rs767515528
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) rs2131114345
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) rs1303389955
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) rs2131113325
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) rs2131113303
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) rs2131113093
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) rs1039417117
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) rs2131112014
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) rs2131111712
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) rs979454428
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) rs2131492208
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041
NM_018325.5(C9orf72):c.*1064A>G rs184151041
NM_018325.5(C9orf72):c.*1136T>C rs375528640
NM_018325.5(C9orf72):c.*144C>T rs1820806932
NM_018325.5(C9orf72):c.*1626G>A rs1820774330
NM_018325.5(C9orf72):c.*356T>G rs886063838
NM_018325.5(C9orf72):c.*577G>C rs886063836
NM_018325.5(C9orf72):c.*787G>A rs148832592
NM_018325.5(C9orf72):c.1048C>T (p.Gln350Ter)
NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr) rs1307772456
NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)
NM_018325.5(C9orf72):c.1191C>G (p.Phe397Leu)
NM_018325.5(C9orf72):c.1426G>C (p.Asp476His) rs767272170
NM_018325.5(C9orf72):c.218G>A (p.Arg73Gln) rs1819480368
NM_018325.5(C9orf72):c.329A>G (p.Tyr110Cys) rs1375695528
NM_018325.5(C9orf72):c.771A>G (p.Pro257=) rs1169081203
NM_018325.5(C9orf72):c.994A>T (p.Met332Leu) rs146043466
NM_018446.4(GLT8D1):c.1108A>G (p.Ile370Val) rs2154099907
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.*929G>A rs886059997
NM_018834.6(MATR3):c.-124T>C rs886059987
NM_018834.6(MATR3):c.-139G>A rs886059986
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr) rs1561938220
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
NM_018834.6(MATR3):c.1130-15T>A
NM_018834.6(MATR3):c.1130-15T>C
NM_018834.6(MATR3):c.1130-8C>G
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
NM_018834.6(MATR3):c.1182+4A>C rs2151988816
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn) rs2151995266
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn) rs1581251198
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn) rs1033118784
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile) rs2152007107
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser) rs2152007192
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg) rs2152009933
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr) rs1357612214
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg) rs2152010076
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp) rs1755638457
NM_018834.6(MATR3):c.1912G>C (p.Asp638His) rs1554148872
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala) rs2152010206
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser) rs765603068
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
NM_018834.6(MATR3):c.1929G>C (p.Gln643His) rs553655919
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe) rs886059991
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
NM_018834.6(MATR3):c.2038G>C (p.Asp680His) rs752161415
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr) rs765251685
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn) rs2152010949
NM_018834.6(MATR3):c.2148+3A>G
NM_018834.6(MATR3):c.2149-5T>C
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
NM_018834.6(MATR3):c.2170G>C (p.Asp724His) rs1452903586
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val) rs1235948155
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys) rs772833565
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly) rs762668138
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro) rs772433814
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del) rs1016579955
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn) rs1755815403
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2321C>T (p.Thr774Ile) rs1755816787
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser) rs370051410
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg) rs2152024424
NM_018834.6(MATR3):c.2493+3A>G rs2152024439
NM_018834.6(MATR3):c.2494-14_2494-11del
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu) rs2152033705
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del) rs1232740498
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn) rs1460343731
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser) rs2151960855
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe) rs1191529191
NM_018834.6(MATR3):c.493_495del (p.Ala165del) rs760040641
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp) rs138894013
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser) rs2151961098
NM_018834.6(MATR3):c.626A>G (p.Gln209Arg) rs2151961199
NM_018834.6(MATR3):c.628_630del (p.Glu210del) rs1754795693
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu) rs2151961434
NM_018834.6(MATR3):c.734A>T (p.Lys245Ile)
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile) rs1554146560
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
NM_018834.6(MATR3):c.832A>G (p.Ile278Val) rs765718462
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu) rs1318047828
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe) rs1754770320
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
NM_018834.6(MATR3):c.975-9T>G
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
NM_019112.4(ABCA7):c.302T>G (p.Leu101Arg)
NM_020919.4(ALS2):c.*1079A>G rs1689339340
NM_020919.4(ALS2):c.*1219C>G rs549727520
NM_020919.4(ALS2):c.*1328G>T rs998591070
NM_020919.4(ALS2):c.*15T>G rs561331219
NM_020919.4(ALS2):c.*426T>A rs535733859
NM_020919.4(ALS2):c.*764A>G rs74933581
NM_020919.4(ALS2):c.*912A>G rs572942753
NM_020919.4(ALS2):c.-93A>G rs373055404
NM_020919.4(ALS2):c.-99C>T rs1047871413
NM_020919.4(ALS2):c.1011A>G (p.Pro337=) rs1574786314
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) rs1693726956
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu) rs1085307055
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr) rs199603159
NM_020919.4(ALS2):c.1816-7G>A rs763440221
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) rs886055455
NM_020919.4(ALS2):c.2580+15A>G rs1691683706
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg) rs1693775888
NM_020919.4(ALS2):c.4123-4T>C rs886055453
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) rs886055452
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) rs1214757167
NM_020919.4(ALS2):c.4627-4G>A rs765859367
NM_021076.4(NEFH):c.1083+254= rs140814097
NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs) rs1404118739
NM_021980.4(OPTN):c.-187G>T rs553169923
NM_021980.4(OPTN):c.-232G>T rs886046816
NM_022173.4(TIA1):c.889-1G>A
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys) rs892937993
NM_025137.4(SPG11):c.1377C>T (p.Gly459=) rs768183449
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly) rs911119510
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn) rs1408459133
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val) rs746138256
NM_025137.4(SPG11):c.1735+4A>G rs2141056546
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser) rs775799559
NM_025137.4(SPG11):c.193G>A (p.Val65Met) rs999651004
NM_025137.4(SPG11):c.19G>T (p.Val7Phe) rs774670657
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val) rs779467011
NM_025137.4(SPG11):c.23C>T (p.Ala8Val) rs200939573
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile) rs534771304
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr) rs76389165
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly) rs746116309
NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg) rs2083094391
NM_025137.4(SPG11):c.4161+9C>G rs1555451101
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys) rs762524521
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala) rs766375553
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg) rs773225085
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg) rs751929116
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr) rs1567129561
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn) rs775209503
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del) rs1060501169
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308
NM_145868.2(ANXA11):c.1010_1011delinsAA (p.Leu337Gln) rs2132386401
NM_145868.2(ANXA11):c.488AGC[2] (p.Gln165del) rs1438529241
NM_145868.2(ANXA11):c.607del (p.Leu203fs)
NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys) rs142183550
NM_199189.2(MATR3):c.-563T>C rs1753162477
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr) rs752472094
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu) rs1569151061
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) rs781304084
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) rs730880031
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) rs1926926045
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) rs1926925550
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg) rs2145926804
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) rs542541060
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) rs767069606
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) rs1555925855
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
NM_213720.3(CHCHD10):c.262-11T>A
NM_213720.3(CHCHD10):c.262-3C>G rs867521564
NM_213720.3(CHCHD10):c.262-4C>G
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) rs1926806684
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) rs564469294
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter) rs1926798746
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg) rs1348340557
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) rs1926995828
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) rs776781535
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val) rs2145924358
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) rs951686050
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) rs750293377
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg) rs964013488
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn) rs1926782349
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) rs1601354726
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg) rs2145924084
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val) rs1926990244
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
NM_213720.3(CHCHD10):c.41+9G>A
NM_213720.3(CHCHD10):c.410-3C>G
NM_213720.3(CHCHD10):c.410-3C>T rs767630947
NM_213720.3(CHCHD10):c.42-6C>G
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
NM_213720.3(CHCHD10):c.82C>T (p.Pro28Ser) rs2145927205
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)

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