NM_003119.4(SPG7):c.1552+244T>C
|
rs462561
|
0.95430
|
NM_003119.4(SPG7):c.1324+4542A>G
|
rs382745
|
0.46503
|
NM_003119.4(SPG7):c.1151-111A>G
|
rs463701
|
0.45727
|
NM_003119.4(SPG7):c.618+12T>C
|
rs3803679
|
0.45572
|
NM_003119.4(SPG7):c.1324+197C>T
|
rs595869
|
0.44164
|
NM_003119.4(SPG7):c.286+46C>T
|
rs3922633
|
0.43914
|
NM_003119.4(SPG7):c.184-132T>C
|
rs3922634
|
0.43895
|
NM_003119.4(SPG7):c.1324+4020A>G
|
rs647747
|
0.43709
|
NM_003119.4(SPG7):c.1324+308G>T
|
rs680716
|
0.42590
|
NM_003119.4(SPG7):c.287-233G>A
|
rs11076605
|
0.42573
|
NM_003119.4(SPG7):c.184-235G>A
|
rs4238831
|
0.42308
|
NM_003119.4(SPG7):c.759-162G>A
|
rs3803677
|
0.42305
|
NM_003119.4(SPG7):c.377-171G>A
|
rs3803680
|
0.42187
|
NM_003119.4(SPG7):c.861+119C>T
|
rs3803676
|
0.41924
|
NM_003119.4(SPG7):c.619-115C>T
|
rs3935627
|
0.24728
|
NM_003119.4(SPG7):c.1552+205G>A
|
rs2292952
|
0.21945
|
NM_003119.4(SPG7):c.1937-54A>G
|
rs730264
|
0.20039
|
NM_003119.4(SPG7):c.1450-29G>A
|
rs462464
|
0.20021
|
NM_003119.4(SPG7):c.1552+65A>C
|
rs461405
|
0.19628
|
NM_003119.4(SPG7):c.1779+47G>C
|
rs3794632
|
0.19456
|
NM_003119.4(SPG7):c.1664-344T>C
|
rs7359417
|
0.17643
|
NM_003119.4(SPG7):c.1664-130G>T
|
rs71396924
|
0.17533
|
NM_003119.4(SPG7):c.1664-177C>T
|
rs71396923
|
0.17081
|
NM_003119.4(SPG7):c.1664-112G>A
|
rs66845605
|
0.17001
|
NM_003119.4(SPG7):c.287-280A>G
|
rs35463145
|
0.14451
|
NM_003119.4(SPG7):c.758+322C>T
|
rs34607811
|
0.13953
|
NM_003119.4(SPG7):c.1324+3841dup
|
rs149246489
|
0.12932
|
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.1324+3850T>C
|
rs182897688
|
0.11337
|
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.1936+154G>T
|
rs8044175
|
0.03831
|
NM_003119.4(SPG7):c.2292C>T (p.Ile764=)
|
rs61747711
|
0.02864
|
NM_003119.4(SPG7):c.1324+3864T>C
|
rs1248920221
|
0.02775
|
NM_003119.4(SPG7):c.619-50C>T
|
rs74037215
|
0.02679
|
NM_003119.4(SPG7):c.987+290C>A
|
rs74037218
|
0.02597
|
NM_003119.4(SPG7):c.758+294C>T
|
rs141882852
|
0.02459
|
NM_003119.4(SPG7):c.1324+3941G>C
|
rs150127651
|
0.02273
|
NM_003119.4(SPG7):c.184-300G>C
|
rs146032762
|
0.01952
|
NM_003119.4(SPG7):c.1664-15C>A
|
rs80292600
|
0.01888
|
NM_003119.4(SPG7):c.1324+3855T>C
|
rs1352978556
|
0.01880
|
NM_003119.4(SPG7):c.1552+231C>T
|
rs78210031
|
0.01838
|
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.1324+3865G>C
|
rs1302734900
|
0.01760
|
NM_003119.4(SPG7):c.1324+3884C>G
|
rs79179680
|
0.01680
|
NM_003119.4(SPG7):c.1324+3861del
|
rs1567918837
|
0.01638
|
NM_003119.4(SPG7):c.1324+3869T>C
|
rs1159419332
|
0.01621
|
NM_003119.4(SPG7):c.286+148C>A
|
rs115973339
|
0.01529
|
NM_003119.4(SPG7):c.1779+238A>G
|
rs17177403
|
0.01518
|
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)
|
rs35749032
|
0.01431
|
NM_003119.4(SPG7):c.1324+3883T>C
|
rs1416602883
|
0.01405
|
NM_003119.4(SPG7):c.861+196C>T
|
rs117896335
|
0.01380
|
NM_003119.4(SPG7):c.376+140C>T
|
rs112674109
|
0.01373
|
NM_003119.4(SPG7):c.376+105G>T
|
rs112467227
|
0.01372
|
NM_003119.4(SPG7):c.861+321T>C
|
rs115214478
|
0.01364
|
NM_003119.4(SPG7):c.759-333G>A
|
rs112527507
|
0.01341
|
NM_003119.4(SPG7):c.987+216A>G
|
rs113166127
|
0.01324
|
NM_003119.4(SPG7):c.987+57C>T
|
rs112188712
|
0.01277
|
NM_003119.4(SPG7):c.758+316A>G
|
rs112355651
|
0.01221
|
NM_003119.4(SPG7):c.881G>A (p.Arg294His)
|
rs115661328
|
0.01169
|
NM_003119.4(SPG7):c.1324+3845T>C
|
rs983550161
|
0.01157
|
NM_003119.4(SPG7):c.1324+3842_1324+3850del
|
rs200111472
|
0.01141
|
NM_003119.4(SPG7):c.1552+50G>A
|
rs116358196
|
0.01132
|
NM_003119.4(SPG7):c.*106A>G
|
rs16965816
|
0.01111
|
NM_003119.4(SPG7):c.*118A>G
|
rs113158735
|
0.01111
|
NM_003119.4(SPG7):c.*122T>C
|
rs113515220
|
0.01111
|
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.619-233C>T
|
rs9929615
|
0.01099
|
NM_003119.4(SPG7):c.1324+4086A>G
|
rs115070727
|
0.01098
|
NM_003119.4(SPG7):c.2280G>A (p.Pro760=)
|
rs11559075
|
0.01053
|
NM_003119.4(SPG7):c.1937-44G>A
|
rs115067204
|
0.00948
|
NM_003119.4(SPG7):c.1324+272A>G
|
rs55674596
|
0.00947
|
NM_003119.4(SPG7):c.1449+84C>T
|
rs191198001
|
0.00838
|
NM_003119.4(SPG7):c.619-228C>T
|
rs114374156
|
0.00743
|
NM_003119.4(SPG7):c.2181+235C>G
|
rs113929056
|
0.00665
|
NM_003119.4(SPG7):c.2181+118A>G
|
rs111682221
|
0.00659
|
NM_003119.4(SPG7):c.987+151T>C
|
rs114788941
|
0.00650
|
NM_003119.4(SPG7):c.1936+12C>T
|
rs112379588
|
0.00628
|
NM_003119.4(SPG7):c.1324+3861A>G
|
rs78351666
|
0.00562
|
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.1552+103C>T
|
rs142649413
|
0.00550
|
NM_003119.4(SPG7):c.1780-259T>G
|
rs139927231
|
0.00542
|
NM_003119.4(SPG7):c.286+218G>A
|
rs146287935
|
0.00511
|
NM_003119.4(SPG7):c.1449+55C>G
|
rs114361295
|
0.00505
|
NM_003119.4(SPG7):c.1324+302C>T
|
rs140722005
|
0.00497
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_003119.4(SPG7):c.1553-131C>G
|
rs375322347
|
0.00439
|
NM_003119.4(SPG7):c.988-110C>T
|
rs573458956
|
0.00428
|
NM_003119.4(SPG7):c.377-298G>A
|
rs185698845
|
0.00427
|
NM_003119.4(SPG7):c.1324+222C>T
|
rs144030383
|
0.00424
|
NM_003119.4(SPG7):c.988-115G>A
|
rs149976628
|
0.00398
|
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)
|
rs56031686
|
0.00386
|
NM_003119.4(SPG7):c.2104-24del
|
rs374488085
|
0.00364
|
NM_003119.4(SPG7):c.377-24C>T
|
rs78628451
|
0.00364
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_003119.4(SPG7):c.1663+112C>T
|
rs182191298
|
0.00359
|
NM_003119.4(SPG7):c.287-70A>C
|
rs201315466
|
0.00359
|
NM_003119.4(SPG7):c.2104-231C>T
|
rs550196385
|
0.00351
|
NM_003119.4(SPG7):c.1779+20G>A
|
rs145805850
|
0.00345
|
NM_003119.4(SPG7):c.988-235T>G
|
rs186569117
|
0.00335
|
NM_003119.4(SPG7):c.1325-302G>A
|
rs149143391
|
0.00295
|
NM_003119.4(SPG7):c.987+19G>A
|
rs62071462
|
0.00263
|
NM_003119.4(SPG7):c.1324+4173C>T
|
rs144415749
|
0.00212
|
NM_003119.4(SPG7):c.1324+4187C>T
|
rs143254053
|
0.00185
|
NM_003119.4(SPG7):c.1779+69G>A
|
rs532031566
|
0.00164
|
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.318G>A (p.Leu106=)
|
rs115601365
|
0.00031
|
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu)
|
rs146115797
|
0.00027
|
NM_003119.4(SPG7):c.1937-9G>A
|
rs371739639
|
0.00026
|
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.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
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.1586C>T (p.Ala529Val)
|
rs748600162
|
0.00011
|
NM_003119.4(SPG7):c.250T>C (p.Leu84=)
|
rs138965309
|
0.00011
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
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.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.2103+7C>T
|
rs372981678
|
0.00008
|
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.1325-6C>T
|
rs371986686
|
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.516C>T (p.His172=)
|
rs141065708
|
0.00006
|
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)
|
rs748024868
|
0.00004
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
NM_003119.4(SPG7):c.1553-6T>G
|
rs778948827
|
0.00004
|
NM_003119.4(SPG7):c.1663+14G>A
|
rs368500645
|
0.00004
|
NM_003119.4(SPG7):c.1830C>T (p.Leu610=)
|
rs746099594
|
0.00004
|
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys)
|
rs536084933
|
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.861+2dup
|
rs771256761
|
0.00004
|
NM_003119.4(SPG7):c.1305G>T (p.Gln435His)
|
rs559906913
|
0.00003
|
NM_003119.4(SPG7):c.1552+16G>T
|
rs746083152
|
0.00003
|
NM_003119.4(SPG7):c.1553-2_1553-1del
|
rs772828460
|
0.00003
|
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr)
|
rs747521455
|
0.00003
|
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu)
|
rs149474131
|
0.00003
|
NM_003119.4(SPG7):c.377-8C>T
|
rs373168400
|
0.00003
|
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr)
|
rs777638594
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)
|
rs1373388852
|
0.00002
|
NM_003119.4(SPG7):c.1771G>A (p.Val591Met)
|
rs199804717
|
0.00002
|
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)
|
rs764645740
|
0.00002
|
NM_003119.4(SPG7):c.2106A>G (p.Glu702=)
|
rs755763500
|
0.00002
|
NM_003119.4(SPG7):c.313A>T (p.Arg105Trp)
|
rs374082677
|
0.00002
|
NM_003119.4(SPG7):c.359C>T (p.Ala120Val)
|
rs530877336
|
0.00002
|
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys)
|
rs863224217
|
0.00002
|
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)
|
rs767820132
|
0.00002
|
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)
|
rs537421502
|
0.00001
|
NM_003119.4(SPG7):c.1068G>A (p.Thr356=)
|
rs368612689
|
0.00001
|
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val)
|
rs776176403
|
0.00001
|
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)
|
rs746668495
|
0.00001
|
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)
|
rs138671904
|
0.00001
|
NM_003119.4(SPG7):c.1573T>C (p.Cys525Arg)
|
rs2058586638
|
0.00001
|
NM_003119.4(SPG7):c.1587G>A (p.Ala529=)
|
rs115743362
|
0.00001
|
NM_003119.4(SPG7):c.1638G>A (p.Glu546=)
|
rs984343415
|
0.00001
|
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp)
|
rs863224220
|
0.00001
|
NM_003119.4(SPG7):c.1644C>T (p.Ala548=)
|
rs145441974
|
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.1976A>G (p.Tyr659Cys)
|
rs1052772091
|
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.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003119.4(SPG7):c.2103+8G>A
|
rs1015822207
|
0.00001
|
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)
|
rs752257333
|
0.00001
|
NM_003119.4(SPG7):c.2143G>A (p.Glu715Lys)
|
rs374302115
|
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.2182C>G (p.Leu728Val)
|
rs1433673841
|
0.00001
|
NM_003119.4(SPG7):c.2227A>C (p.Ile743Leu)
|
rs372231786
|
0.00001
|
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)
|
rs374941242
|
0.00001
|
NM_003119.4(SPG7):c.2314G>T (p.Asp772Tyr)
|
rs1235854891
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln)
|
rs948625936
|
0.00001
|
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro)
|
rs149797758
|
0.00001
|
NM_003119.4(SPG7):c.601G>A (p.Val201Met)
|
rs775545751
|
0.00001
|
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)
|
rs764791523
|
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.898G>A (p.Gly300Arg)
|
rs771060044
|
0.00001
|
NM_003119.4(SPG7):c.941T>C (p.Met314Thr)
|
rs863224219
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:89623304-89624182)x3
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
|
|
|
NM_003119.4(SPG7):c.1014C>T (p.Gly338=)
|
rs576575379
|
|
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)
|
rs775364547
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.1150+19_1150+31del
|
rs1379023827
|
|
NM_003119.4(SPG7):c.1166G>T (p.Arg389Leu)
|
|
|
NM_003119.4(SPG7):c.1171C>T (p.Arg391Trp)
|
rs1057524520
|
|
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.1225_1229del (p.Glu409fs)
|
|
|
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)
|
rs745444834
|
|
NM_003119.4(SPG7):c.1261A>G (p.Met421Val)
|
|
|
NM_003119.4(SPG7):c.1324+148dup
|
rs11403793
|
|
NM_003119.4(SPG7):c.1324+185C>T
|
rs146843515
|
|
NM_003119.4(SPG7):c.1324+3816GGTGAGGCG[2]
|
rs543538383
|
|
NM_003119.4(SPG7):c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGG
|
rs1567918726
|
|
NM_003119.4(SPG7):c.1324+3849_1324+3850insCGGGCGAGGCGGGCGAGG
|
rs1567918794
|
|
NM_003119.4(SPG7):c.1324+3852A>G
|
rs1238669262
|
|
NM_003119.4(SPG7):c.1324+3864_1324+3867del
|
rs1190509972
|
|
NM_003119.4(SPG7):c.1324+3878T>C
|
rs1375985161
|
|
NM_003119.4(SPG7):c.1324+3893_1324+3894insAGGTGAGGTGAGGC
|
rs1555613855
|
|
NM_003119.4(SPG7):c.1324+3989_1324+3997dup
|
rs1236753175
|
|
NM_003119.4(SPG7):c.1324+4109C>A
|
rs199969908
|
|
NM_003119.4(SPG7):c.1324+4109C>T
|
rs199969908
|
|
NM_003119.4(SPG7):c.1324+4143C>T
|
|
|
NM_003119.4(SPG7):c.1324+4312G>T
|
rs115675101
|
|
NM_003119.4(SPG7):c.1364C>T (p.Thr455Met)
|
|
|
NM_003119.4(SPG7):c.1449+174C>T
|
rs78718968
|
|
NM_003119.4(SPG7):c.1450-75C>A
|
rs1023859750
|
|
NM_003119.4(SPG7):c.1450-75del
|
rs35936864
|
|
NM_003119.4(SPG7):c.1450-75dup
|
rs35936864
|
|
NM_003119.4(SPG7):c.1450-78C>T
|
rs577802159
|
|
NM_003119.4(SPG7):c.1502C>T (p.Ser501Phe)
|
|
|
NM_003119.4(SPG7):c.1553-8_1553-7del
|
rs567981282
|
|
NM_003119.4(SPG7):c.1613C>G (p.Thr538Ser)
|
rs1160298693
|
|
NM_003119.4(SPG7):c.1617del (p.Val540fs)
|
rs762795756
|
|
NM_003119.4(SPG7):c.1656C>T (p.Val552=)
|
rs758338586
|
|
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)
|
rs151249432
|
|
NM_003119.4(SPG7):c.1760A>C (p.His587Pro)
|
rs1057524632
|
|
NM_003119.4(SPG7):c.1780-16_1780-14del
|
rs863224213
|
|
NM_003119.4(SPG7):c.1780-94C>T
|
rs112372464
|
|
NM_003119.4(SPG7):c.184-4del
|
rs5818722
|
|
NM_003119.4(SPG7):c.184-4dup
|
rs5818722
|
|
NM_003119.4(SPG7):c.1890G>A (p.Leu630=)
|
rs767213993
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.1929C>T (p.Val643=)
|
rs746082965
|
|
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
NM_003119.4(SPG7):c.1939del
|
rs1567934181
|
|
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)
|
rs776380988
|
|
NM_003119.4(SPG7):c.1953G>A (p.Leu651=)
|
rs1057523048
|
|
NM_003119.4(SPG7):c.1987A>T (p.Lys663Ter)
|
rs2152412171
|
|
NM_003119.4(SPG7):c.2041G>C (p.Glu681Gln)
|
rs863224221
|
|
NM_003119.4(SPG7):c.2047C>T (p.Leu683Phe)
|
rs769512676
|
|
NM_003119.4(SPG7):c.2050A>T (p.Met684Leu)
|
|
|
NM_003119.4(SPG7):c.2070del (p.Phe691fs)
|
rs1555617559
|
|
NM_003119.4(SPG7):c.2098G>A (p.Asp700Asn)
|
rs2058662790
|
|
NM_003119.4(SPG7):c.2103+95G>T
|
rs560186519
|
|
NM_003119.4(SPG7):c.2142C>T (p.Thr714=)
|
rs201878285
|
|
NM_003119.4(SPG7):c.2178G>A (p.Gln726=)
|
rs1175352443
|
|
NM_003119.4(SPG7):c.2181+255C>G
|
rs76647055
|
|
NM_003119.4(SPG7):c.2182-283G>A
|
rs113066938
|
|
NM_003119.4(SPG7):c.2189del (p.Asn730fs)
|
rs863224223
|
|
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu)
|
rs863224214
|
|
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)
|
rs527363502
|
|
NM_003119.4(SPG7):c.377-245_377-244insTCTCA
|
rs59761318
|
|
NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn)
|
rs863224218
|
|
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser)
|
rs377268309
|
|
NM_003119.4(SPG7):c.416_432del (p.Arg139fs)
|
rs1085307874
|
|
NM_003119.4(SPG7):c.498C>T (p.Ser166=)
|
rs780508442
|
|
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
|
|
|
NM_003119.4(SPG7):c.618+11_618+68del
|
rs1555611542
|
|
NM_003119.4(SPG7):c.618+15G>A
|
rs766767456
|
|
NM_003119.4(SPG7):c.618+170C>T
|
rs8051680
|
|
NM_003119.4(SPG7):c.619-47G>A
|
rs3935626
|
|
NM_003119.4(SPG7):c.759-126C>T
|
rs74037217
|
|
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter)
|
rs1235945505
|
|
NM_003119.4(SPG7):c.861+313T>C
|
rs112592929
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
NM_003119.4(SPG7):c.862-34G>T
|
rs4785690
|
|
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter)
|
rs1131691968
|
|
NM_003119.4(SPG7):c.880C>G (p.Arg294Gly)
|
|
|
NM_003119.4(SPG7):c.976_987+3del
|
rs878854606
|
|
NM_003119.4(SPG7):c.987+5A>G
|
rs4785691
|
|