NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_004082.5(DCTN1):c.3029+6G>T
|
rs754143116
|
0.00029
|
NM_000454.5(SOD1):c.239+6A>C
|
rs374610141
|
0.00022
|
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)
|
rs140066692
|
0.00019
|
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_004082.5(DCTN1):c.1480G>A (p.Ala494Thr)
|
rs113980038
|
0.00012
|
NM_004082.5(DCTN1):c.2015+3A>G
|
rs200057343
|
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_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_004082.5(DCTN1):c.100G>C (p.Glu34Gln)
|
rs151052060
|
0.00008
|
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_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_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_000454.5(SOD1):c.59A>G (p.Asn20Ser)
|
rs768029813
|
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_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_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_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_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr)
|
rs567432143
|
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.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
|
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_000021.8:g.(?_32439271)_(39212984_?)dup
|
|
|
NM_000454.5(SOD1):c.*273_*276del
|
rs906761540
|
|
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.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.357+2dup
|
|
|
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
|
|
|
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.83_88del (p.Gly28_Pro29del)
|
rs2049569360
|
|
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn)
|
rs2123431867
|
|
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.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.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
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rs576198476
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NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
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NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu)
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rs147939455
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NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
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NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg)
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rs2103694207
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NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
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NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly)
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rs781290307
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NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln)
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rs764615912
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NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
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NM_004082.5(DCTN1):c.432+1G>T
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rs1235693710
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NM_004082.5(DCTN1):c.433-3C>T
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rs375832615
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NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
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NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly)
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rs148810193
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NM_004082.5(DCTN1):c.453+6A>G
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NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
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NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser)
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rs746429168
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NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly)
|
rs1445980252
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NM_004082.5(DCTN1):c.518C>T (p.Ala173Val)
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rs1445980252
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NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
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NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
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NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn)
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rs1365948671
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NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser)
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rs1674861180
|
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NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
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NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
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NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
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NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu)
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rs1057518814
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NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
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NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
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NM_004082.5(DCTN1):c.5C>T (p.Ala2Val)
|
rs1675439973
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NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
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NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
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NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)
|
rs770302677
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NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln)
|
rs112725508
|
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NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg)
|
rs112725508
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NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu)
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rs112725508
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NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg)
|
rs1558943273
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NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu)
|
rs754827026
|
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NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln)
|
rs1573164746
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NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr)
|
rs372733713
|
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NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
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NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
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NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser)
|
rs1674806644
|
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NM_004082.5(DCTN1):c.742C>G (p.Leu248Val)
|
rs112475795
|
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NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
|
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NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
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NM_004082.5(DCTN1):c.793A>T (p.Met265Leu)
|
rs2103663572
|
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NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
|
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NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
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NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
|
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NM_004082.5(DCTN1):c.833A>T (p.Glu278Val)
|
rs1553465344
|
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NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr)
|
rs1674798940
|
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NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
|
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NM_004082.5(DCTN1):c.844-2A>G
|
rs2103661242
|
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NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg)
|
rs755017882
|
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NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)
|
rs896989123
|
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NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys)
|
rs1200414397
|
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NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly)
|
rs759253635
|
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NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
|
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NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
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NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg)
|
rs760539371
|
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NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp)
|
rs1064797256
|
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NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
|
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NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
|
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