NM_003119.4(SPG7):c.618+12T>C
|
rs3803679
|
0.45572
|
NM_003119.4(SPG7):c.286+46C>T
|
rs3922633
|
0.43914
|
NM_003119.4(SPG7):c.376+4364C>T
|
rs8052076
|
0.41223
|
NM_003119.4(SPG7):c.1450-29G>A
|
rs462464
|
0.20021
|
NM_003119.4(SPG7):c.1779+47G>C
|
rs3794632
|
0.19456
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)
|
rs12960
|
0.12801
|
NM_003119.4(SPG7):c.1449+19G>A
|
rs79201073
|
0.07399
|
NM_003119.4(SPG7):c.1663+13C>T
|
rs80324518
|
0.05587
|
NM_003119.4(SPG7):c.*33C>T
|
rs60711430
|
0.03853
|
NM_003119.4(SPG7):c.2292C>T (p.Ile764=)
|
rs61747711
|
0.02864
|
NM_003119.4(SPG7):c.1664-15C>A
|
rs80292600
|
0.01888
|
NM_003119.4(SPG7):c.1770C>T (p.Ala590=)
|
rs60488729
|
0.01823
|
NM_003119.4(SPG7):c.2037G>A (p.Ala679=)
|
rs79756036
|
0.01778
|
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)
|
rs35749032
|
0.01431
|
NM_003119.4(SPG7):c.881G>A (p.Arg294His)
|
rs115661328
|
0.01169
|
NM_003119.4(SPG7):c.*195C>T
|
rs113818240
|
0.01111
|
NM_003119.4(SPG7):c.*140G>T
|
rs112587045
|
0.01110
|
NM_003119.4(SPG7):c.2295C>T (p.Asp765=)
|
rs61747712
|
0.01110
|
NM_003119.4(SPG7):c.*592C>T
|
rs8059296
|
0.01109
|
NM_003119.4(SPG7):c.*656G>C
|
rs8058221
|
0.01109
|
NM_003119.4(SPG7):c.2280G>A (p.Pro760=)
|
rs11559075
|
0.01053
|
NM_003119.4(SPG7):c.*362C>T
|
rs111725561
|
0.00744
|
NM_003119.4(SPG7):c.*549A>C
|
rs114970695
|
0.00742
|
NM_003119.4(SPG7):c.*441T>C
|
rs114306117
|
0.00720
|
NM_003119.4(SPG7):c.1936+12C>T
|
rs112379588
|
0.00628
|
NM_003119.4(SPG7):c.1937-16C>G
|
rs74590011
|
0.00558
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_003119.4(SPG7):c.*398G>A
|
rs148314733
|
0.00483
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)
|
rs56031686
|
0.00386
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_003119.4(SPG7):c.1779+20G>A
|
rs145805850
|
0.00345
|
NM_003119.4(SPG7):c.987+19G>A
|
rs62071462
|
0.00263
|
NM_003119.4(SPG7):c.*432G>A
|
rs545177317
|
0.00158
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
NM_003119.4(SPG7):c.1936+13G>A
|
rs147242721
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_003119.4(SPG7):c.1593C>T (p.His531=)
|
rs61747706
|
0.00047
|
NM_003119.4(SPG7):c.474C>T (p.Leu158=)
|
rs139742860
|
0.00038
|
NM_003119.4(SPG7):c.318G>A (p.Leu106=)
|
rs115601365
|
0.00031
|
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu)
|
rs146115797
|
0.00027
|
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)
|
rs201543030
|
0.00024
|
NM_003119.4(SPG7):c.1359G>A (p.Ala453=)
|
rs115448299
|
0.00024
|
NM_003119.4(SPG7):c.822G>C (p.Leu274=)
|
rs148032495
|
0.00024
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
NM_003119.4(SPG7):c.2181+19G>A
|
rs201539829
|
0.00019
|
NM_003119.4(SPG7):c.2182-18T>C
|
rs374106302
|
0.00019
|
NM_003119.4(SPG7):c.1764G>A (p.Thr588=)
|
rs373536584
|
0.00017
|
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)
|
rs199689138
|
0.00017
|
NM_003119.4(SPG7):c.862-16T>G
|
rs199954282
|
0.00016
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_003119.4(SPG7):c.782C>T (p.Thr261Met)
|
rs370949294
|
0.00014
|
NM_003119.4(SPG7):c.1197C>T (p.Ala399=)
|
rs373627269
|
0.00012
|
NM_003119.4(SPG7):c.2250G>A (p.Pro750=)
|
rs144039221
|
0.00012
|
NM_003119.4(SPG7):c.*24C>T
|
rs367714018
|
0.00011
|
NM_003119.4(SPG7):c.*483A>G
|
rs548134361
|
0.00011
|
NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
|
rs147302322
|
0.00011
|
NM_003119.4(SPG7):c.250T>C (p.Leu84=)
|
rs138965309
|
0.00011
|
NM_003119.4(SPG7):c.1275C>T (p.Ser425=)
|
rs778305316
|
0.00010
|
NM_003119.4(SPG7):c.1664-13G>A
|
rs376384545
|
0.00010
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_003119.4(SPG7):c.338A>G (p.Lys113Arg)
|
rs771130240
|
0.00010
|
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp)
|
rs199751531
|
0.00010
|
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)
|
rs147673636
|
0.00010
|
NM_003119.4(SPG7):c.1053C>T (p.Pro351=)
|
rs762689331
|
0.00009
|
NM_003119.4(SPG7):c.1324+18C>T
|
rs372803371
|
0.00009
|
NM_003119.4(SPG7):c.1971C>T (p.Ile657=)
|
rs140356355
|
0.00009
|
NM_003119.4(SPG7):c.454A>G (p.Met152Val)
|
rs146186857
|
0.00009
|
NM_003119.4(SPG7):c.483C>T (p.Ser161=)
|
rs144509309
|
0.00009
|
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)
|
rs145776296
|
0.00009
|
NM_003119.4(SPG7):c.1049C>A (p.Pro350His)
|
rs376254211
|
0.00008
|
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile)
|
rs115999025
|
0.00008
|
NM_003119.4(SPG7):c.2058C>T (p.Ile686=)
|
rs776262023
|
0.00008
|
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)
|
rs754203248
|
0.00008
|
NM_003119.4(SPG7):c.2103+7C>T
|
rs372981678
|
0.00008
|
NM_003119.4(SPG7):c.1663+9G>A
|
rs756489401
|
0.00007
|
NM_003119.4(SPG7):c.1937-15G>A
|
rs201272528
|
0.00007
|
NM_003119.4(SPG7):c.306C>T (p.Asn102=)
|
rs147397994
|
0.00007
|
NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
|
rs201129878
|
0.00006
|
NM_003119.4(SPG7):c.1325-6C>T
|
rs371986686
|
0.00006
|
NM_003119.4(SPG7):c.1611C>G (p.His537Gln)
|
rs139952725
|
0.00006
|
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr)
|
rs763187694
|
0.00006
|
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr)
|
rs549735647
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu)
|
rs1239421989
|
0.00006
|
NM_003119.4(SPG7):c.516C>T (p.His172=)
|
rs141065708
|
0.00006
|
NM_003119.4(SPG7):c.1728G>A (p.Ser576=)
|
rs369686424
|
0.00005
|
NM_003119.4(SPG7):c.547G>A (p.Val183Ile)
|
rs373636036
|
0.00005
|
NM_003119.4(SPG7):c.618+16G>A
|
rs370158052
|
0.00005
|
NM_003119.4(SPG7):c.*11T>A
|
rs201811837
|
0.00004
|
NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr)
|
rs368373840
|
0.00004
|
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)
|
rs778409451
|
0.00004
|
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)
|
rs748024868
|
0.00004
|
NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
|
rs767857665
|
0.00004
|
NM_003119.4(SPG7):c.1422C>T (p.His474=)
|
rs201482100
|
0.00004
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
NM_003119.4(SPG7):c.1553-20G>A
|
rs753649905
|
0.00004
|
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln)
|
rs757160836
|
0.00004
|
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile)
|
rs750306995
|
0.00004
|
NM_003119.4(SPG7):c.1663+14G>A
|
rs368500645
|
0.00004
|
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile)
|
rs753337774
|
0.00004
|
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr)
|
rs370852816
|
0.00004
|
NM_003119.4(SPG7):c.1812G>A (p.Leu604=)
|
rs114474424
|
0.00004
|
NM_003119.4(SPG7):c.1830C>T (p.Leu610=)
|
rs746099594
|
0.00004
|
NM_003119.4(SPG7):c.184-4T>C
|
rs533778042
|
0.00004
|
NM_003119.4(SPG7):c.1936+15C>T
|
rs370954971
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys)
|
rs536084933
|
0.00004
|
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)
|
rs369503365
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_003119.4(SPG7):c.2298C>G (p.Ala766=)
|
rs61756187
|
0.00004
|
NM_003119.4(SPG7):c.2370G>A (p.Glu790=)
|
rs936520999
|
0.00004
|
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn)
|
rs762049799
|
0.00004
|
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly)
|
rs114191002
|
0.00004
|
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
|
rs114255772
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003119.4(SPG7):c.988-3C>T
|
rs533584901
|
0.00004
|
NM_003119.4(SPG7):c.1151-8C>T
|
rs200402056
|
0.00003
|
NM_003119.4(SPG7):c.1324+4273G>T
|
rs142373545
|
0.00003
|
NM_003119.4(SPG7):c.1552+16G>T
|
rs746083152
|
0.00003
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_003119.4(SPG7):c.1553-2A>G
|
rs1229749476
|
0.00003
|
NM_003119.4(SPG7):c.1553-2_1553-1del
|
rs772828460
|
0.00003
|
NM_003119.4(SPG7):c.1626T>A (p.Thr542=)
|
rs781398870
|
0.00003
|
NM_003119.4(SPG7):c.1936+18G>A
|
rs75437341
|
0.00003
|
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr)
|
rs747521455
|
0.00003
|
NM_003119.4(SPG7):c.2247G>A (p.Pro749=)
|
rs757358666
|
0.00003
|
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn)
|
rs765532928
|
0.00003
|
NM_003119.4(SPG7):c.619-4C>G
|
rs754935334
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003119.4(SPG7):c.663G>A (p.Lys221=)
|
rs575421836
|
0.00003
|
NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys)
|
rs771172268
|
0.00003
|
NM_003119.4(SPG7):c.759-6C>T
|
rs568452581
|
0.00003
|
NM_003119.4(SPG7):c.878C>T (p.Ala293Val)
|
rs201723702
|
0.00003
|
NM_003119.4(SPG7):c.993A>G (p.Pro331=)
|
rs377211352
|
0.00003
|
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)
|
rs1373388852
|
0.00002
|
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr)
|
rs776587961
|
0.00002
|
NM_003119.4(SPG7):c.1242C>G (p.Gly414=)
|
rs776578314
|
0.00002
|
NM_003119.4(SPG7):c.1596G>A (p.Ala532=)
|
rs752346853
|
0.00002
|
NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys)
|
rs577389704
|
0.00002
|
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg)
|
rs781314016
|
0.00002
|
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)
|
rs764645740
|
0.00002
|
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn)
|
rs143294686
|
0.00002
|
NM_003119.4(SPG7):c.1937-2A>G
|
rs568556987
|
0.00002
|
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)
|
rs763413730
|
0.00002
|
NM_003119.4(SPG7):c.2283G>A (p.Gln761=)
|
rs116035086
|
0.00002
|
NM_003119.4(SPG7):c.228C>T (p.Asn76=)
|
rs369989832
|
0.00002
|
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)
|
rs770487062
|
0.00002
|
NM_003119.4(SPG7):c.359C>T (p.Ala120Val)
|
rs530877336
|
0.00002
|
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)
|
rs767820132
|
0.00002
|
NM_003119.4(SPG7):c.423G>T (p.Arg141=)
|
rs777943597
|
0.00002
|
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys)
|
rs577497147
|
0.00002
|
NM_003119.4(SPG7):c.619-7C>A
|
rs779835775
|
0.00002
|
NM_003119.4(SPG7):c.706G>A (p.Glu236Lys)
|
rs376360606
|
0.00002
|
NM_003119.4(SPG7):c.*341A>G
|
rs772338990
|
0.00001
|
NM_003119.4(SPG7):c.*97G>A
|
rs886052475
|
0.00001
|
NM_003119.4(SPG7):c.*99G>A
|
rs953663004
|
0.00001
|
NM_003119.4(SPG7):c.1005C>T (p.Leu335=)
|
rs1348515048
|
0.00001
|
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu)
|
rs375684876
|
0.00001
|
NM_003119.4(SPG7):c.1046G>T (p.Gly349Val)
|
rs1387985266
|
0.00001
|
NM_003119.4(SPG7):c.1050C>T (p.Pro350=)
|
rs1360515266
|
0.00001
|
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)
|
rs537421502
|
0.00001
|
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala)
|
rs1567914095
|
0.00001
|
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met)
|
rs754903980
|
0.00001
|
NM_003119.4(SPG7):c.1068G>A (p.Thr356=)
|
rs368612689
|
0.00001
|
NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro)
|
rs997293950
|
0.00001
|
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg)
|
rs376803235
|
0.00001
|
NM_003119.4(SPG7):c.1080G>A (p.Lys360=)
|
rs1212650663
|
0.00001
|
NM_003119.4(SPG7):c.1092G>A (p.Thr364=)
|
rs771190749
|
0.00001
|
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val)
|
rs776176403
|
0.00001
|
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn)
|
rs745459731
|
0.00001
|
NM_003119.4(SPG7):c.1191C>G (p.Ala397=)
|
rs1597635045
|
0.00001
|
NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln)
|
rs541757224
|
0.00001
|
NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr)
|
rs779792728
|
0.00001
|
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)
|
rs746668495
|
0.00001
|
NM_003119.4(SPG7):c.1254C>T (p.Ser418=)
|
rs1056819996
|
0.00001
|
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile)
|
rs371504521
|
0.00001
|
NM_003119.4(SPG7):c.1257C>T (p.Thr419=)
|
rs766401031
|
0.00001
|
NM_003119.4(SPG7):c.1281G>A (p.Thr427=)
|
rs369614581
|
0.00001
|
NM_003119.4(SPG7):c.1295C>T (p.Thr432Met)
|
rs781129301
|
0.00001
|
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)
|
rs138671904
|
0.00001
|
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val)
|
rs748873540
|
0.00001
|
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)
|
rs748555510
|
0.00001
|
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)
|
rs756535079
|
0.00001
|
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)
|
rs1482442290
|
0.00001
|
NM_003119.4(SPG7):c.1523G>A (p.Arg508His)
|
rs201733920
|
0.00001
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
NM_003119.4(SPG7):c.1644C>T (p.Ala548=)
|
rs145441974
|
0.00001
|
NM_003119.4(SPG7):c.1663+11C>T
|
rs778284438
|
0.00001
|
NM_003119.4(SPG7):c.1664-11C>A
|
rs574656941
|
0.00001
|
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)
|
rs372981030
|
0.00001
|
NM_003119.4(SPG7):c.1695G>A (p.Lys565=)
|
rs1426006851
|
0.00001
|
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)
|
rs946925151
|
0.00001
|
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)
|
rs72547552
|
0.00001
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
NM_003119.4(SPG7):c.1780-7G>C
|
rs775799537
|
0.00001
|
NM_003119.4(SPG7):c.1929C>A (p.Val643=)
|
rs746082965
|
0.00001
|
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn)
|
rs775569150
|
0.00001
|
NM_003119.4(SPG7):c.1967G>A (p.Arg656His)
|
rs373143136
|
0.00001
|
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)
|
rs2058661391
|
0.00001
|
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)
|
rs752989523
|
0.00001
|
NM_003119.4(SPG7):c.204A>G (p.Leu68=)
|
rs566363528
|
0.00001
|
NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)
|
rs1249957920
|
0.00001
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)
|
rs752257333
|
0.00001
|
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn)
|
rs776661222
|
0.00001
|
NM_003119.4(SPG7):c.2181G>A (p.Ala727=)
|
rs753423781
|
0.00001
|
NM_003119.4(SPG7):c.2182-19C>T
|
rs752601752
|
0.00001
|
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val)
|
rs1433673841
|
0.00001
|
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly)
|
rs759329959
|
0.00001
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
NM_003119.4(SPG7):c.2253C>T (p.Pro751=)
|
rs1466411495
|
0.00001
|
NM_003119.4(SPG7):c.2271del (p.Met757fs)
|
rs1217391623
|
0.00001
|
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)
|
rs374941242
|
0.00001
|
NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys)
|
rs1293899912
|
0.00001
|
NM_003119.4(SPG7):c.2373G>A (p.Pro791=)
|
rs768453376
|
0.00001
|
NM_003119.4(SPG7):c.287-15C>G
|
rs760006158
|
0.00001
|
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys)
|
rs774326531
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)
|
rs912983346
|
0.00001
|
NM_003119.4(SPG7):c.392G>A (p.Arg131His)
|
rs985921704
|
0.00001
|
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)
|
rs370777371
|
0.00001
|
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln)
|
rs948625936
|
0.00001
|
NM_003119.4(SPG7):c.504C>T (p.Asn168=)
|
rs151078862
|
0.00001
|
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu)
|
rs1244544459
|
0.00001
|
NM_003119.4(SPG7):c.618+14C>T
|
rs574361328
|
0.00001
|
NM_003119.4(SPG7):c.618+8A>G
|
rs768740995
|
0.00001
|
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)
|
rs764791523
|
0.00001
|
NM_003119.4(SPG7):c.682G>A (p.Ala228Thr)
|
rs375721189
|
0.00001
|
NM_003119.4(SPG7):c.703A>G (p.Ile235Val)
|
rs191022979
|
0.00001
|
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)
|
rs779055639
|
0.00001
|
NM_003119.4(SPG7):c.759-2A>G
|
rs770299071
|
0.00001
|
NM_003119.4(SPG7):c.759-4G>A
|
rs777052133
|
0.00001
|
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe)
|
rs773926412
|
0.00001
|
NM_003119.4(SPG7):c.775_781dup (p.Thr261fs)
|
rs780810116
|
0.00001
|
NM_003119.4(SPG7):c.783G>A (p.Thr261=)
|
rs778798038
|
0.00001
|
NM_003119.4(SPG7):c.817C>T (p.Arg273Cys)
|
rs748547018
|
0.00001
|
NM_003119.4(SPG7):c.861+1G>C
|
rs1412575396
|
0.00001
|
NM_003119.4(SPG7):c.861+5G>A
|
rs757333854
|
0.00001
|
NM_003119.4(SPG7):c.862-15G>A
|
rs1208489603
|
0.00001
|
NM_003119.4(SPG7):c.891T>A (p.Ile297=)
|
rs773162353
|
0.00001
|
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg)
|
rs771060044
|
0.00001
|
NM_003119.4(SPG7):c.930C>T (p.Asp310=)
|
rs779449885
|
0.00001
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
NM_003119.4(SPG7):c.988-6G>A
|
rs779901380
|
0.00001
|
NC_000016.10:g.(89559945_?)_(?_89549777)del
|
|
|
NC_000016.10:g.(?_89508408)_(89532646_?)dup
|
|
|
NC_000016.10:g.(?_89510480)_(89513047_?)del
|
|
|
NC_000016.10:g.(?_89529457)_(89529599_?)del
|
|
|
NC_000016.9:g.(89579446_89590413)_(89611181_89613065)del
|
|
|
NC_000016.9:g.(89592877_89595884)_(89599045_89611055)del
|
|
|
NC_000016.9:g.(89595988_89597090)_(89620972_89623294)del
|
|
|
NC_000016.9:g.(?_89574826)_(89579465_?)del
|
|
|
NC_000016.9:g.(?_89574826)_(89583809_?)dup
|
|
|
NC_000016.9:g.(?_89574826)_(89597236_?)del
|
|
|
NC_000016.9:g.(?_89576878)_(89579465_?)del
|
|
|
NC_000016.9:g.(?_89576878)_(89579465_?)dup
|
|
|
NC_000016.9:g.(?_89579336)_(89579465_?)del
|
|
|
NC_000016.9:g.(?_89595875)_(89595997_?)del
|
|
|
NC_000016.9:g.(?_89613046)_(89617037_?)del
|
|
|
NC_000016.9:g.(?_89614405)_(89617023_?)del
|
|
|
NC_000016.9:g.(?_89619467)_(89620817_?)del
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.3(SPG7):c.1553-?_1779+?del
|
|
|
NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]
|
|
|
NM_003119.4(SPG7):c.*222G>A
|
rs2058697421
|
|
NM_003119.4(SPG7):c.*587G>A
|
rs8058041
|
|
NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)
|
|
|
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1044C>T (p.Leu348=)
|
|
|
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs)
|
rs1060503425
|
|
NM_003119.4(SPG7):c.1047C>A (p.Gly349=)
|
|
|
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)
|
rs775364547
|
|
NM_003119.4(SPG7):c.1053C>G (p.Pro351=)
|
rs762689331
|
|
NM_003119.4(SPG7):c.1053del (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)
|
rs2152403446
|
|
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
|
|
|
NM_003119.4(SPG7):c.1083G>C (p.Ala361=)
|
rs114135540
|
|
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu)
|
rs532511374
|
|
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
|
|
|
NM_003119.4(SPG7):c.1098_1125del (p.Val368fs)
|
rs2152403474
|
|
NM_003119.4(SPG7):c.1102del (p.Val368fs)
|
rs1567914229
|
|
NM_003119.4(SPG7):c.1116G>A (p.Ala372=)
|
|
|
NM_003119.4(SPG7):c.1116G>C (p.Ala372=)
|
|
|
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
|
|
|
NM_003119.4(SPG7):c.1124del (p.Gly375fs)
|
rs2152403519
|
|
NM_003119.4(SPG7):c.1135G>A (p.Val379Met)
|
rs766085257
|
|
NM_003119.4(SPG7):c.1149A>T (p.Gly383=)
|
rs2058351028
|
|
NM_003119.4(SPG7):c.1150+13G>C
|
|
|
NM_003119.4(SPG7):c.1150+17G>A
|
rs2058351380
|
|
NM_003119.4(SPG7):c.1150+9T>A
|
|
|
NM_003119.4(SPG7):c.1151-14C>G
|
|
|
NM_003119.4(SPG7):c.1151-16C>G
|
|
|
NM_003119.4(SPG7):c.1151-1G>C
|
|
|
NM_003119.4(SPG7):c.1151-7C>T
|
|
|
NM_003119.4(SPG7):c.1162_1177dup (p.Leu393fs)
|
rs2152403759
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
|
|
|
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs)
|
rs2058358025
|
|
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)
|
rs2058358241
|
|
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln)
|
rs771782004
|
|
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu)
|
rs771782004
|
|
NM_003119.4(SPG7):c.1207T>A (p.Cys403Ser)
|
rs2152403786
|
|
NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)
|
|
|
NM_003119.4(SPG7):c.1230C>A (p.Ile410=)
|
|
|
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)
|
rs745444834
|
|
NM_003119.4(SPG7):c.1238T>A (p.Val413Glu)
|
rs1244749062
|
|
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
|
|
|
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
|
|
|
NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)
|
|
|
NM_003119.4(SPG7):c.1257C>G (p.Thr419=)
|
rs766401031
|
|
NM_003119.4(SPG7):c.1266C>G (p.Ser422=)
|
rs767857665
|
|
NM_003119.4(SPG7):c.1296G>A (p.Thr432=)
|
|
|
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
|
|
|
NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)
|
|
|
NM_003119.4(SPG7):c.1305G>A (p.Gln435=)
|
rs559906913
|
|
NM_003119.4(SPG7):c.1324+11G>A
|
|
|
NM_003119.4(SPG7):c.1324+15G>A
|
|
|
NM_003119.4(SPG7):c.1324+19C>T
|
|
|
NM_003119.4(SPG7):c.1324+20G>A
|
|
|
NM_003119.4(SPG7):c.1324+2T>G
|
rs1597635592
|
|
NM_003119.4(SPG7):c.1324+7G>A
|
|
|
NM_003119.4(SPG7):c.1325-12_1325-11del
|
|
|
NM_003119.4(SPG7):c.1350C>T (p.Ile450=)
|
rs145124867
|
|
NM_003119.4(SPG7):c.1354C>T (p.Leu452=)
|
rs2058540705
|
|
NM_003119.4(SPG7):c.1358C>T (p.Ala453Val)
|
|
|
NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)
|
|
|
NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro)
|
rs2152409117
|
|
NM_003119.4(SPG7):c.1365G>A (p.Thr455=)
|
|
|
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
|
|
|
NM_003119.4(SPG7):c.1393C>T (p.Leu465=)
|
|
|
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
|
|
|
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
|
|
|
NM_003119.4(SPG7):c.1419G>T (p.Arg473=)
|
rs764199066
|
|
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)
|
rs1567926386
|
|
NM_003119.4(SPG7):c.1421A>C (p.His474Pro)
|
|
|
NM_003119.4(SPG7):c.1422C>G (p.His474Gln)
|
rs201482100
|
|
NM_003119.4(SPG7):c.1440C>A (p.Pro480=)
|
|
|
NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg)
|
rs376713807
|
|
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met)
|
rs376713807
|
|
NM_003119.4(SPG7):c.1443G>A (p.Thr481=)
|
|
|
NM_003119.4(SPG7):c.1449+6_1449+7del
|
|
|
NM_003119.4(SPG7):c.1450-17T>C
|
|
|
NM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCT
|
|
|
NM_003119.4(SPG7):c.1455G>A (p.Arg485=)
|
|
|
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
|
|
|
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
|
|
|
NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)
|
rs1179556029
|
|
NM_003119.4(SPG7):c.1477dup (p.Leu493fs)
|
|
|
NM_003119.4(SPG7):c.1486C>T (p.Leu496=)
|
|
|
NM_003119.4(SPG7):c.1497C>A (p.Thr499=)
|
|
|
NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu)
|
rs2152409901
|
|
NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)
|
rs2058569546
|
|
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg)
|
rs972175989
|
|
NM_003119.4(SPG7):c.1552+15C>T
|
|
|
NM_003119.4(SPG7):c.1552+4C>T
|
|
|
NM_003119.4(SPG7):c.1552+4_1552+11dup
|
|
|
NM_003119.4(SPG7):c.1553-4A>G
|
rs113450752
|
|
NM_003119.4(SPG7):c.1553-4A>T
|
|
|
NM_003119.4(SPG7):c.1553-5G>C
|
rs1463414333
|
|
NM_003119.4(SPG7):c.1553-8_1553-7del
|
rs567981282
|
|
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro)
|
rs1423182372
|
|
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
|
|
|
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr)
|
rs540602203
|
|
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile)
|
rs974972989
|
|
NM_003119.4(SPG7):c.1584T>C (p.Ala528=)
|
|
|
NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)
|
|
|
NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)
|
|
|
NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)
|
rs2152410293
|
|
NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)
|
|
|
NM_003119.4(SPG7):c.1617del (p.Val540fs)
|
rs762795756
|
|
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
|
|
|
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs)
|
rs766155407
|
|
NM_003119.4(SPG7):c.1639T>G (p.Tyr547Asp)
|
rs886052474
|
|
NM_003119.4(SPG7):c.1641C>T (p.Tyr547=)
|
|
|
NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
|
|
|
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
|
|
|
NM_003119.4(SPG7):c.1647G>A (p.Val549=)
|
rs2152410319
|
|
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
|
|
|
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
|
|
|
NM_003119.4(SPG7):c.1663+12G>A
|
|
|
NM_003119.4(SPG7):c.1664-17C>T
|
|
|
NM_003119.4(SPG7):c.1664-7C>A
|
|
|
NM_003119.4(SPG7):c.1668T>G (p.Thr556=)
|
|
|
NM_003119.4(SPG7):c.1680C>T (p.Ser560=)
|
|
|
NM_003119.4(SPG7):c.1686C>G (p.Ile562Met)
|
|
|
NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)
|
|
|
NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)
|
|
|
NM_003119.4(SPG7):c.1702_1706del (p.Gln568fs)
|
rs2152411067
|
|
NM_003119.4(SPG7):c.1704_1705del (p.Lys569fs)
|
rs2152411070
|
|
NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)
|
|
|
NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)
|
|
|
NM_003119.4(SPG7):c.1712T>C (p.Val571Ala)
|
rs2152411078
|
|
NM_003119.4(SPG7):c.1720C>T (p.His574Tyr)
|
rs2058623878
|
|
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)
|
rs151249432
|
|
NM_003119.4(SPG7):c.1728G>C (p.Ser576=)
|
|
|
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)
|
rs1329063851
|
|
NM_003119.4(SPG7):c.1737C>G (p.Ala579=)
|
rs2152411087
|
|
NM_003119.4(SPG7):c.1739TGG[1] (p.Val581del)
|
rs1597661607
|
|
NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe)
|
rs115658934
|
|
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)
|
rs267607085
|
|
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln)
|
rs1035143808
|
|
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)
|
rs778387199
|
|
NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)
|
|
|
NM_003119.4(SPG7):c.1773G>C (p.Val591=)
|
|
|
NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)
|
rs1463225651
|
|
NM_003119.4(SPG7):c.1779+10G>A
|
|
|
NM_003119.4(SPG7):c.1779+12C>A
|
|
|
NM_003119.4(SPG7):c.1779+5G>T
|
rs1567931957
|
|
NM_003119.4(SPG7):c.1780-16_1780-14del
|
rs863224213
|
|
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu)
|
rs149749852
|
|
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
|
|
|
NM_003119.4(SPG7):c.1803C>T (p.Asn601=)
|
|
|
NM_003119.4(SPG7):c.184-19del
|
|
|
NM_003119.4(SPG7):c.184-5_184-4del
|
rs5818722
|
|
NM_003119.4(SPG7):c.1844A>G (p.His615Arg)
|
rs2152411864
|
|
NM_003119.4(SPG7):c.184A>C (p.Ser62Arg)
|
|
|
NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)
|
|
|
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)
|
rs769258044
|
|
NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)
|
|
|
NM_003119.4(SPG7):c.1887C>G (p.Ala629=)
|
|
|
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
|
rs368541637
|
|
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp)
|
rs1350253332
|
|
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
|
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
|
|
|
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
|
|
|
NM_003119.4(SPG7):c.1927G>A (p.Val643Ile)
|
rs778965259
|
|
NM_003119.4(SPG7):c.192A>G (p.Gln64=)
|
|
|
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
NM_003119.4(SPG7):c.1936+16G>A
|
|
|
NM_003119.4(SPG7):c.1936+17C>T
|
|
|
NM_003119.4(SPG7):c.1936+2T>A
|
rs1567933730
|
|
NM_003119.4(SPG7):c.1936+8G>A
|
|
|
NM_003119.4(SPG7):c.1936+9C>T
|
|
|
NM_003119.4(SPG7):c.1937-10C>T
|
|
|
NM_003119.4(SPG7):c.1937-11C>T
|
|
|
NM_003119.4(SPG7):c.1937-16C>T
|
|
|
NM_003119.4(SPG7):c.1939del
|
rs1567934181
|
|
NM_003119.4(SPG7):c.193T>C (p.Leu65=)
|
|
|
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu)
|
rs776380988
|
|
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)
|
rs776380988
|
|
NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)
|
rs769602042
|
|
NM_003119.4(SPG7):c.1955G>T (p.Arg652Met)
|
rs1433697104
|
|
NM_003119.4(SPG7):c.1960_1963del (p.Val654fs)
|
rs2152412161
|
|
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)
|
rs373143136
|
|
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
|
|
|
NM_003119.4(SPG7):c.1974C>G (p.Ala658=)
|
|
|
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)
|
rs1597665063
|
|
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
|
|
|
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)
|
rs752989523
|
|
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)
|
rs1597665080
|
|
NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
|
|
|
NM_003119.4(SPG7):c.2013C>T (p.Ile671=)
|
|
|
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr)
|
rs2152412186
|
|
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)
|
rs72547553
|
|
NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser)
|
rs2058661946
|
|
NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)
|
|
|
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del)
|
rs1597665192
|
|
NM_003119.4(SPG7):c.2066G>A (p.Arg689His)
|
rs148199060
|
|
NM_003119.4(SPG7):c.2070del (p.Phe691fs)
|
rs1555617559
|
|
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)
|
rs121918357
|
|
NM_003119.4(SPG7):c.2083C>T (p.Leu695=)
|
rs754203248
|
|
NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)
|
|
|
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
|
|
|
NM_003119.4(SPG7):c.2102A>G (p.His701Arg)
|
rs372180825
|
|
NM_003119.4(SPG7):c.2103+2_2103+20del
|
rs1743896594
|
|
NM_003119.4(SPG7):c.2104-12C>G
|
|
|
NM_003119.4(SPG7):c.2104-1G>C
|
|
|
NM_003119.4(SPG7):c.2104-2A>G
|
rs1567934754
|
|
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)
|
rs748255454
|
|
NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)
|
|
|
NM_003119.4(SPG7):c.2128G>A (p.Ala710Thr)
|
rs2152412371
|
|
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp)
|
rs2058667749
|
|
NM_003119.4(SPG7):c.2140_2141del (p.Thr714fs)
|
|
|
NM_003119.4(SPG7):c.2142C>T (p.Thr714=)
|
rs201878285
|
|
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
|
|
|
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
|
|
|
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)
|
rs2152412388
|
|
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs)
|
rs2058667949
|
|
NM_003119.4(SPG7):c.2173T>C (p.Leu725=)
|
|
|
NM_003119.4(SPG7):c.2182-4C>A
|
|
|
NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)
|
|
|
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
|
|
|
NM_003119.4(SPG7):c.2216dup (p.Asn739fs)
|
rs763126378
|
|
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
|
|
|
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
|
|
|
NM_003119.4(SPG7):c.2241T>G (p.Ile747Met)
|
rs2152413170
|
|
NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)
|
|
|
NM_003119.4(SPG7):c.2252C>A (p.Pro751His)
|
|
|
NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu)
|
rs758721226
|
|
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val)
|
rs1597668767
|
|
NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)
|
|
|
NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)
|
|
|
NM_003119.4(SPG7):c.2290A>G (p.Ile764Val)
|
rs942740771
|
|
NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)
|
|
|
NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)
|
|
|
NM_003119.4(SPG7):c.2322C>T (p.Gly774=)
|
|
|
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
|
|
|
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)
|
rs527363502
|
|
NM_003119.4(SPG7):c.2334C>T (p.Thr778=)
|
|
|
NM_003119.4(SPG7):c.2350C>T (p.Pro784Ser)
|
|
|
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys)
|
rs372033226
|
|
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
|
|
|
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter)
|
rs372033226
|
|
NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)
|
|
|
NM_003119.4(SPG7):c.2385G>A (p.Lys795=)
|
rs773216042
|
|
NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)
|
|
|
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)
|
rs146115797
|
|
NM_003119.4(SPG7):c.246A>G (p.Gln82=)
|
|
|
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
|
|
|
NM_003119.4(SPG7):c.264A>C (p.Pro88=)
|
|
|
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
|
|
|
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
|
|
|
NM_003119.4(SPG7):c.286+1G>T
|
rs1452259575
|
|
NM_003119.4(SPG7):c.286+3A>G
|
rs201056405
|
|
NM_003119.4(SPG7):c.286+853A>G
|
|
|
NM_003119.4(SPG7):c.288T>G (p.Gly96=)
|
rs2058041135
|
|
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
|
|
|
NM_003119.4(SPG7):c.308C>A (p.Thr103Asn)
|
rs746764772
|
|
NM_003119.4(SPG7):c.339G>A (p.Lys113=)
|
|
|
NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)
|
|
|
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
|
|
|
NM_003119.4(SPG7):c.355A>C (p.Lys119Gln)
|
|
|
NM_003119.4(SPG7):c.357G>A (p.Lys119=)
|
rs1209945253
|
|
NM_003119.4(SPG7):c.360G>A (p.Ala120=)
|
|
|
NM_003119.4(SPG7):c.360G>C (p.Ala120=)
|
rs376376359
|
|
NM_003119.4(SPG7):c.372C>T (p.Asp124=)
|
|
|
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
|
|
|
NM_003119.4(SPG7):c.376+12T>C
|
|
|
NM_003119.4(SPG7):c.376+16_376+18del
|
|
|
NM_003119.4(SPG7):c.376+18T>A
|
rs2152394850
|
|
NM_003119.4(SPG7):c.376+2T>A
|
|
|
NM_003119.4(SPG7):c.377-39A>C
|
rs1192753029
|
|
NM_003119.4(SPG7):c.377-6G>A
|
rs1555611445
|
|
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
|
|
|
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
|
|
|
NM_003119.4(SPG7):c.402C>T (p.Asp134=)
|
|
|
NM_003119.4(SPG7):c.412_443del (p.Tyr138fs)
|
|
|
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser)
|
rs377268309
|
|
NM_003119.4(SPG7):c.438G>A (p.Leu146=)
|
|
|
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
|
|
|
NM_003119.4(SPG7):c.450T>C (p.Val150=)
|
|
|
NM_003119.4(SPG7):c.463C>A (p.Leu155Met)
|
|
|
NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)
|
|
|
NM_003119.4(SPG7):c.473_474del (p.Leu158fs)
|
rs879253798
|
|
NM_003119.4(SPG7):c.495T>C (p.Ile165=)
|
|
|
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
|
|
|
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
|
|
|
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
|
|
|
NM_003119.4(SPG7):c.558G>C (p.Val186=)
|
rs754129188
|
|
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu)
|
rs2152399546
|
|
NM_003119.4(SPG7):c.561T>C (p.Pro187=)
|
|
|
NM_003119.4(SPG7):c.573G>A (p.Val191=)
|
|
|
NM_003119.4(SPG7):c.596del (p.Gly199fs)
|
rs752843742
|
|
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
|
|
|
NM_003119.4(SPG7):c.618+11_618+68del
|
rs1555611542
|
|
NM_003119.4(SPG7):c.618+14_618+36del
|
|
|
NM_003119.4(SPG7):c.619-10T>C
|
|
|
NM_003119.4(SPG7):c.619-20C>G
|
|
|
NM_003119.4(SPG7):c.619-3C>G
|
rs199740629
|
|
NM_003119.4(SPG7):c.619-47G>A
|
rs3935626
|
|
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
|
|
|
NM_003119.4(SPG7):c.627C>T (p.Ala209=)
|
|
|
NM_003119.4(SPG7):c.630G>A (p.Leu210=)
|
|
|
NM_003119.4(SPG7):c.672G>A (p.Glu224=)
|
|
|
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
|
|
|
NM_003119.4(SPG7):c.697C>T (p.Leu233=)
|
rs751353500
|
|
NM_003119.4(SPG7):c.705C>T (p.Ile235=)
|
rs115244515
|
|
NM_003119.4(SPG7):c.711del (p.Lys238fs)
|
rs2152400490
|
|
NM_003119.4(SPG7):c.712A>T (p.Lys238Ter)
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rs2152400493
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NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
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NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
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NM_003119.4(SPG7):c.732C>G (p.Ser244=)
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NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
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NM_003119.4(SPG7):c.746G>A (p.Gly249Glu)
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NM_003119.4(SPG7):c.749del (p.Phe250fs)
|
rs1355240257
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NM_003119.4(SPG7):c.750C>T (p.Phe250=)
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NM_003119.4(SPG7):c.758+14A>G
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NM_003119.4(SPG7):c.758+4T>C
|
rs2058261955
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NM_003119.4(SPG7):c.759-11_759-8del
|
rs758385553
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NM_003119.4(SPG7):c.759-11del
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NM_003119.4(SPG7):c.759-12_759-11del
|
rs779395474
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NM_003119.4(SPG7):c.759-15T>G
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NM_003119.4(SPG7):c.759-18CT[2]
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NM_003119.4(SPG7):c.759-20G>C
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NM_003119.4(SPG7):c.759-5G>A
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NM_003119.4(SPG7):c.762C>T (p.Ala254=)
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NM_003119.4(SPG7):c.763C>T (p.Leu255=)
|
rs2058311848
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NM_003119.4(SPG7):c.764T>A (p.Leu255Gln)
|
rs2058311875
|
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NM_003119.4(SPG7):c.773_774del (p.Val258fs)
|
rs768136171
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NM_003119.4(SPG7):c.778_782delinsCCA (p.Met260fs)
|
rs2152402048
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|
NM_003119.4(SPG7):c.784G>C (p.Ala262Pro)
|
rs2152402052
|
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NM_003119.4(SPG7):c.792C>T (p.Gly264=)
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NM_003119.4(SPG7):c.808del (p.Tyr270fs)
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NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)
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NM_003119.4(SPG7):c.829A>T (p.Met277Leu)
|
rs909738481
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NM_003119.4(SPG7):c.847G>A (p.Gly283Arg)
|
rs2058313221
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NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)
|
rs768595656
|
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NM_003119.4(SPG7):c.861+10G>A
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NM_003119.4(SPG7):c.861+18G>T
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NM_003119.4(SPG7):c.861+19A>G
|
rs2152402127
|
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NM_003119.4(SPG7):c.861+1G>T
|
rs1412575396
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NM_003119.4(SPG7):c.861+20G>C
|
|
|
NM_003119.4(SPG7):c.861+6T>C
|
rs765178985
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NM_003119.4(SPG7):c.861T>C (p.Phe287=)
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NM_003119.4(SPG7):c.861del (p.Phe287fs)
|
rs797046003
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
NM_003119.4(SPG7):c.862-18T>G
|
|
|
NM_003119.4(SPG7):c.862-34G>T
|
rs4785690
|
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NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
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NM_003119.4(SPG7):c.931G>A (p.Val311Met)
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NM_003119.4(SPG7):c.932T>A (p.Val311Glu)
|
rs1060503429
|
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NM_003119.4(SPG7):c.932_934del (p.Val311del)
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|
NM_003119.4(SPG7):c.933G>C (p.Val311=)
|
rs1157953850
|
|
NM_003119.4(SPG7):c.934dup (p.Ala312fs)
|
rs2058330715
|
|
NM_003119.4(SPG7):c.942G>C (p.Met314Ile)
|
|
|
NM_003119.4(SPG7):c.943C>T (p.His315Tyr)
|
|
|
NM_003119.4(SPG7):c.946G>A (p.Glu316Lys)
|
|
|
NM_003119.4(SPG7):c.947A>G (p.Glu316Gly)
|
|
|
NM_003119.4(SPG7):c.950C>T (p.Ala317Val)
|
|
|
NM_003119.4(SPG7):c.951C>A (p.Ala317=)
|
|
|
NM_003119.4(SPG7):c.960del (p.Val321fs)
|
|
|
NM_003119.4(SPG7):c.964C>T (p.Arg322Cys)
|
rs201096554
|
|
NM_003119.4(SPG7):c.967G>A (p.Glu323Lys)
|
|
|
NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)
|
|
|
NM_003119.4(SPG7):c.971T>C (p.Phe324Ser)
|
rs2152402791
|
|
NM_003119.4(SPG7):c.976_987+3del
|
rs878854606
|
|
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro)
|
rs1555612612
|
|
NM_003119.4(SPG7):c.987+11C>T
|
|
|
NM_003119.4(SPG7):c.987+5A>C
|
rs4785691
|
|
NM_003119.4(SPG7):c.987+5A>G
|
rs4785691
|
|
NM_003119.4(SPG7):c.988-12G>C
|
|
|
NM_003119.4(SPG7):c.988-17T>C
|
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|