NM_014946.4(SPAST):c.*1544G>T
|
rs6709048
|
0.39025
|
NM_014946.4(SPAST):c.*2264G>A
|
rs3769602
|
0.37900
|
NM_014946.4(SPAST):c.*1545T>G
|
rs9789593
|
0.27143
|
NM_014946.4(SPAST):c.*98A>G
|
rs56272862
|
0.04503
|
NM_014946.4(SPAST):c.*2150G>C
|
rs147721392
|
0.03807
|
NM_014946.4(SPAST):c.*2399C>T
|
rs72796869
|
0.02100
|
NM_014946.4(SPAST):c.*3013T>C
|
rs72796870
|
0.02059
|
NM_014946.4(SPAST):c.*256A>G
|
rs6730400
|
0.01284
|
NM_014946.4(SPAST):c.*591A>T
|
rs115996749
|
0.01062
|
NM_014946.4(SPAST):c.*1962A>G
|
rs187724468
|
0.01019
|
NM_014946.4(SPAST):c.*1963A>G
|
rs192476121
|
0.01008
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
NM_014946.4(SPAST):c.*2318G>A
|
rs141017850
|
0.00800
|
NM_014946.4(SPAST):c.*765A>C
|
rs141666739
|
0.00757
|
NM_014946.4(SPAST):c.*1454G>C
|
rs147052682
|
0.00749
|
NM_014946.4(SPAST):c.*1604G>A
|
rs192438402
|
0.00742
|
NM_014946.4(SPAST):c.*51A>G
|
rs6730121
|
0.00739
|
NM_014946.4(SPAST):c.*1410T>G
|
rs75645928
|
0.00737
|
NM_014946.4(SPAST):c.1728+16A>G
|
rs76494041
|
0.00731
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_014946.4(SPAST):c.*2589T>G
|
rs149425698
|
0.00431
|
NM_014946.4(SPAST):c.*1376A>G
|
rs575900032
|
0.00223
|
NM_014946.4(SPAST):c.1493+18G>T
|
rs189961829
|
0.00213
|
NM_014946.4(SPAST):c.865C>T (p.His289Tyr)
|
rs74688377
|
0.00210
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
NM_014946.4(SPAST):c.*819C>T
|
rs186529600
|
0.00146
|
NM_014946.4(SPAST):c.415+12G>A
|
rs539075273
|
0.00115
|
NM_014946.4(SPAST):c.1173+17A>C
|
rs200640366
|
0.00092
|
NM_014946.4(SPAST):c.-41C>T
|
rs374327295
|
0.00078
|
NM_014946.4(SPAST):c.*1231C>T
|
rs886055974
|
0.00067
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
NM_014946.4(SPAST):c.*1476A>G
|
rs760307887
|
0.00056
|
NM_014946.4(SPAST):c.683-9C>T
|
rs202209866
|
0.00056
|
NM_014946.4(SPAST):c.243C>G (p.Arg81=)
|
rs146956762
|
0.00047
|
NM_014946.4(SPAST):c.1493+6G>A
|
rs115659052
|
0.00046
|
NM_014946.4(SPAST):c.*2898C>T
|
rs886055983
|
0.00043
|
NM_014946.4(SPAST):c.*382G>A
|
rs570596299
|
0.00042
|
NM_014946.4(SPAST):c.*1279G>C
|
rs748353637
|
0.00041
|
NM_014946.4(SPAST):c.*2583C>T
|
rs138968325
|
0.00041
|
NM_014946.4(SPAST):c.*2322T>G
|
rs530517245
|
0.00038
|
NM_014946.4(SPAST):c.*2904C>T
|
rs534543205
|
0.00038
|
NM_014946.4(SPAST):c.502+18T>C
|
rs201013227
|
0.00036
|
NM_014946.4(SPAST):c.1362G>A (p.Glu454=)
|
rs138849656
|
0.00035
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)
|
rs372005558
|
0.00029
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_014946.4(SPAST):c.1593A>G (p.Gln531=)
|
rs754291673
|
0.00023
|
NM_014946.4(SPAST):c.*521A>G
|
rs886055968
|
0.00019
|
NM_014946.4(SPAST):c.*1995A>G
|
rs540679757
|
0.00018
|
NM_014946.4(SPAST):c.1617-3C>T
|
rs201212542
|
0.00018
|
NM_014946.4(SPAST):c.1536+17G>T
|
rs201026422
|
0.00017
|
NM_014946.4(SPAST):c.*2737G>A
|
rs926197235
|
0.00016
|
NM_014946.4(SPAST):c.165C>T (p.Tyr55=)
|
rs368951498
|
0.00014
|
NM_014946.4(SPAST):c.*2433A>G
|
rs569779105
|
0.00013
|
NM_014946.4(SPAST):c.-7G>A
|
rs376165443
|
0.00013
|
NM_014946.4(SPAST):c.926G>A (p.Arg309His)
|
rs202152835
|
0.00013
|
NM_014946.4(SPAST):c.*1777G>A
|
rs886055976
|
0.00012
|
NM_014946.4(SPAST):c.661C>T (p.Arg221Cys)
|
rs371848866
|
0.00011
|
NM_014946.4(SPAST):c.*2779G>A
|
rs886055982
|
0.00010
|
NM_014946.4(SPAST):c.-168G>A
|
rs886055959
|
0.00010
|
NM_014946.4(SPAST):c.324G>C (p.Val108=)
|
rs750637923
|
0.00010
|
NM_014946.4(SPAST):c.*1156T>C
|
rs546193636
|
0.00009
|
NM_014946.4(SPAST):c.1155G>A (p.Gly385=)
|
rs778305717
|
0.00009
|
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)
|
rs140094231
|
0.00009
|
NM_014946.4(SPAST):c.*494C>T
|
rs886055967
|
0.00008
|
NM_014946.4(SPAST):c.1809G>A (p.Ala603=)
|
rs769450158
|
0.00007
|
NM_014946.4(SPAST):c.*1783C>T
|
rs886055977
|
0.00006
|
NM_014946.4(SPAST):c.*195T>A
|
rs778599351
|
0.00006
|
NM_014946.4(SPAST):c.*2504A>G
|
rs886055980
|
0.00006
|
NM_014946.4(SPAST):c.*2987G>C
|
rs770713063
|
0.00006
|
NM_014946.4(SPAST):c.1197G>A (p.Ser399=)
|
rs1037572037
|
0.00006
|
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys)
|
rs776114823
|
0.00006
|
NM_014946.4(SPAST):c.64C>G (p.Pro22Ala)
|
rs762209469
|
0.00006
|
NM_014946.4(SPAST):c.832G>A (p.Val278Met)
|
rs369908571
|
0.00006
|
NM_014946.4(SPAST):c.30G>A (p.Lys10=)
|
rs768928614
|
0.00005
|
NM_014946.4(SPAST):c.415+17G>T
|
rs748969302
|
0.00005
|
NM_014946.4(SPAST):c.942G>A (p.Leu314=)
|
rs776121105
|
0.00005
|
NM_014946.4(SPAST):c.965G>A (p.Ser322Asn)
|
rs200329686
|
0.00005
|
NM_014946.4(SPAST):c.1173+9T>C
|
rs775558266
|
0.00004
|
NM_014946.4(SPAST):c.1785C>T (p.Ser595=)
|
rs145206063
|
0.00004
|
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val)
|
rs368801051
|
0.00004
|
NM_014946.4(SPAST):c.441A>G (p.Glu147=)
|
rs375027118
|
0.00004
|
NM_014946.4(SPAST):c.*157A>C
|
rs886055963
|
0.00003
|
NM_014946.4(SPAST):c.101C>T (p.Pro34Leu)
|
rs771019519
|
0.00002
|
NM_014946.4(SPAST):c.1077T>C (p.Ile359=)
|
rs570106557
|
0.00002
|
NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)
|
rs771455657
|
0.00002
|
NM_014946.4(SPAST):c.1125C>T (p.Ala375=)
|
rs62142114
|
0.00002
|
NM_014946.4(SPAST):c.1494-7T>C
|
rs894974418
|
0.00002
|
NM_014946.4(SPAST):c.1616+18G>A
|
rs977979111
|
0.00002
|
NM_014946.4(SPAST):c.1644C>T (p.Asp548=)
|
rs781455476
|
0.00002
|
NM_014946.4(SPAST):c.1742G>A (p.Arg581Gln)
|
rs749484350
|
0.00002
|
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)
|
rs372900676
|
0.00002
|
NM_014946.4(SPAST):c.222C>T (p.Leu74=)
|
rs372332499
|
0.00002
|
NM_014946.4(SPAST):c.315G>A (p.Pro105=)
|
rs761254257
|
0.00002
|
NM_014946.4(SPAST):c.631G>A (p.Val211Ile)
|
rs143003434
|
0.00002
|
NM_014946.4(SPAST):c.828T>C (p.Ser276=)
|
rs77525846
|
0.00002
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
NM_014946.4(SPAST):c.*1029G>A
|
rs1450820813
|
0.00001
|
NM_014946.4(SPAST):c.*1731G>T
|
rs1309040715
|
0.00001
|
NM_014946.4(SPAST):c.*1829C>T
|
rs886055978
|
0.00001
|
NM_014946.4(SPAST):c.*19C>T
|
rs558483397
|
0.00001
|
NM_014946.4(SPAST):c.*478G>T
|
rs886055966
|
0.00001
|
NM_014946.4(SPAST):c.1087C>T (p.Leu363=)
|
rs769858706
|
0.00001
|
NM_014946.4(SPAST):c.10C>G (p.Pro4Ala)
|
rs937319046
|
0.00001
|
NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu)
|
rs1471030618
|
0.00001
|
NM_014946.4(SPAST):c.113C>G (p.Pro38Arg)
|
rs1041662261
|
0.00001
|
NM_014946.4(SPAST):c.1245+12G>A
|
rs766012036
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln)
|
rs748779010
|
0.00001
|
NM_014946.4(SPAST):c.1321+9A>G
|
rs201349526
|
0.00001
|
NM_014946.4(SPAST):c.1322-18T>C
|
rs1469260346
|
0.00001
|
NM_014946.4(SPAST):c.1365C>T (p.His455=)
|
rs748788182
|
0.00001
|
NM_014946.4(SPAST):c.137A>G (p.His46Arg)
|
rs778952334
|
0.00001
|
NM_014946.4(SPAST):c.1577G>A (p.Gly526Glu)
|
rs750991507
|
0.00001
|
NM_014946.4(SPAST):c.157T>G (p.Phe53Val)
|
rs200029938
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_014946.4(SPAST):c.171G>C (p.Leu57=)
|
rs1057523187
|
0.00001
|
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)
|
rs1259072587
|
0.00001
|
NM_014946.4(SPAST):c.1805A>C (p.Glu602Ala)
|
rs776152816
|
0.00001
|
NM_014946.4(SPAST):c.1817G>A (p.Arg606His)
|
rs768077366
|
0.00001
|
NM_014946.4(SPAST):c.20G>C (p.Arg7Pro)
|
rs750900931
|
0.00001
|
NM_014946.4(SPAST):c.280G>C (p.Gly94Arg)
|
rs750218565
|
0.00001
|
NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)
|
rs746263735
|
0.00001
|
NM_014946.4(SPAST):c.303G>T (p.Ser101=)
|
rs1232419017
|
0.00001
|
NM_014946.4(SPAST):c.343C>T (p.Arg115Cys)
|
rs1272546651
|
0.00001
|
NM_014946.4(SPAST):c.421C>T (p.Gln141Ter)
|
rs1485703744
|
0.00001
|
NM_014946.4(SPAST):c.423G>A (p.Gln141=)
|
rs753233534
|
0.00001
|
NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)
|
rs748674789
|
0.00001
|
NM_014946.4(SPAST):c.51C>G (p.Ser17Arg)
|
rs1303074496
|
0.00001
|
NM_014946.4(SPAST):c.555G>C (p.Leu185Phe)
|
rs377698691
|
0.00001
|
NM_014946.4(SPAST):c.55C>T (p.Pro19Ser)
|
rs372349942
|
0.00001
|
NM_014946.4(SPAST):c.626C>T (p.Thr209Met)
|
rs537855621
|
0.00001
|
NM_014946.4(SPAST):c.630C>T (p.Asp210=)
|
rs150444792
|
0.00001
|
NM_014946.4(SPAST):c.679T>G (p.Ser227Ala)
|
rs762126088
|
0.00001
|
NM_014946.4(SPAST):c.742C>T (p.Arg248Cys)
|
rs757176714
|
0.00001
|
NM_014946.4(SPAST):c.743G>A (p.Arg248His)
|
rs201395991
|
0.00001
|
NM_014946.4(SPAST):c.80C>T (p.Pro27Leu)
|
rs1361493550
|
0.00001
|
NM_014946.4(SPAST):c.89C>T (p.Ala30Val)
|
rs781516235
|
0.00001
|
NM_014946.4(SPAST):c.935A>C (p.Lys312Thr)
|
rs540279272
|
0.00001
|
NM_014946.4(SPAST):c.97C>G (p.Pro33Ala)
|
rs1403480959
|
0.00001
|
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu)
|
rs777721232
|
0.00001
|
GRCh37/hg19 2p22.3(chr2:32372287-32372327)x2
|
|
|
NC_000002.11:g.(32323961_32339706)_(32372328_32379442)del
|
|
|
NC_000002.11:g.(32341281_32352017)_(32379565_?)del
|
|
|
NC_000002.11:g.(32341282_32352016)_(32353549_32361631)del
|
|
|
NC_000002.11:g.(32341282_32352016)_(32372328_32379442)del
|
|
|
NC_000002.11:g.(32353549_32361631)_(32372328_32379442)del
|
|
|
NC_000002.11:g.(32362258_32366972)_(32370077_32372286)del
|
|
|
NC_000002.11:g.(32372327_32379443)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32288891)_(32341291_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32289335_?)dup
|
|
|
NC_000002.11:g.(?_32288901)_(32323980_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32339914_?)dup
|
|
|
NC_000002.11:g.(?_32288901)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32362257_32366973)del
|
|
|
NC_000002.11:g.(?_32288901)_(32362277_?)dup
|
|
|
NC_000002.11:g.(?_32288901)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32312541)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32314571)_(32314694_?)del
|
|
|
NC_000002.11:g.(?_32314571)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32337285)_(32350543_?)del
|
|
|
NC_000002.11:g.(?_32339687)_(32339914_?)del
|
|
|
NC_000002.11:g.(?_32339687)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32339687)_(32341301_?)dup
|
|
|
NC_000002.11:g.(?_32339687)_(32372347_?)dup
|
|
|
NC_000002.11:g.(?_32339687)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32339697)_(32379575_?)del
|
|
|
NC_000002.11:g.(?_32351997)_(32362277_?)del
|
|
|
NC_000002.11:g.(?_32351997)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32352007)_(32353558_?)dup
|
|
|
NC_000002.11:g.(?_32353457)_(32353568_?)dup
|
|
|
NC_000002.11:g.(?_32358030)_(32362241_?)del
|
|
|
NC_000002.11:g.(?_32361622)_(32379575_?)del
|
|
|
NC_000002.11:g.(?_32366953)_(32370096_?)del
|
|
|
NC_000002.11:g.(?_32366967)_(32372333_?)del
|
|
|
NC_000002.11:g.(?_32368385)_(32368504_?)del
|
|
|
NC_000002.11:g.(?_32368385)_(32370096_?)del
|
|
|
NC_000002.11:g.(?_32370032)_(32371757_?)del
|
|
|
NC_000002.11:g.(?_32372267)_(32372347_?)del
|
|
|
NC_000002.11:g.(?_32379423)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32379423)_(32379565_?)dup
|
|
|
NC_000002.12:g.(?_32063611)_(32064246_?)del
|
|
|
NC_000002.12:g.(?_32063812)_(32064266_?)del
|
|
|
NC_000002.12:g.(?_32063822)_(32064256_?)del
|
|
|
NC_000002.12:g.(?_32063822)_(32089615_?)del
|
|
|
NC_000002.12:g.(?_32063822)_(32154506_?)del
|
|
|
NC_000002.12:g.(?_32063826)_(32098897_?)del
|
|
|
NC_000002.12:g.(?_32087482)_(32116222_?)del
|
|
|
NC_000002.12:g.(?_32098786)_(32116222_?)del
|
|
|
NC_000002.12:g.(?_32114618)_(32128499_?)del
|
|
|
NC_000002.12:g.(?_32114618)_(32147278_?)del
|
|
|
NC_000002.12:g.(?_32114628)_(32114835_?)del
|
|
|
NC_000002.12:g.(?_32114628)_(32116222_?)dup
|
|
|
NC_000002.12:g.(?_32114638)_(32157637_?)del
|
|
|
NC_000002.12:g.(?_32126928)_(32128499_?)del
|
|
|
NC_000002.12:g.(?_32126938)_(32128489_?)del
|
|
|
NC_000002.12:g.(?_32126938)_(32154506_?)del
|
|
|
NC_000002.12:g.(?_32136543)_(32137208_?)del
|
|
|
NC_000002.12:g.(?_32136543)_(32147278_?)del
|
|
|
NC_000002.12:g.(?_32136553)_(32136648_?)del
|
|
|
NC_000002.12:g.(?_32136553)_(32137198_?)del
|
|
|
NC_000002.12:g.(?_32143325)_(32147268_?)del
|
|
|
NC_000002.12:g.(?_32144927)_(32154506_?)del
|
|
|
NC_000002.12:g.(?_32147208)_(32147268_?)dup
|
|
|
NC_000002.12:g.(?_32154364)_(32154506_?)del
|
|
|
NC_000002.12:g.32141904del
|
rs2148758232
|
|
NC_000002.12:g.32153843_32159343del
|
|
|
NC_000002.12:g.32154379_32154380insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAATCTAGATGAGA
|
|
|
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
|
|
|
NM_014946.3(SPAST):c.1494-?_1728+?del
|
|
|
NM_014946.4(SPAST):c.*1858T>G
|
rs573241334
|
|
NM_014946.4(SPAST):c.*1969A>T
|
rs533154653
|
|
NM_014946.4(SPAST):c.*2196A>T
|
rs886055979
|
|
NM_014946.4(SPAST):c.*219C>T
|
rs1036761303
|
|
NM_014946.4(SPAST):c.*2658A>T
|
rs886055981
|
|
NM_014946.4(SPAST):c.*2672T>C
|
rs1680279812
|
|
NM_014946.4(SPAST):c.*2920T>C
|
rs1573191306
|
|
NM_014946.4(SPAST):c.*533T>G
|
rs886055969
|
|
NM_014946.4(SPAST):c.*796T>G
|
rs1680216994
|
|
NM_014946.4(SPAST):c.*892T>G
|
rs886055972
|
|
NM_014946.4(SPAST):c.-220G>T
|
rs886055957
|
|
NM_014946.4(SPAST):c.-90C>A
|
rs1380704736
|
|
NM_014946.4(SPAST):c.1002C>G (p.Asp334Glu)
|
rs762108936
|
|
NM_014946.4(SPAST):c.1003A>C (p.Asn335His)
|
|
|
NM_014946.4(SPAST):c.1004+16T>C
|
|
|
NM_014946.4(SPAST):c.1004+17A>G
|
|
|
NM_014946.4(SPAST):c.1004+1G>C
|
rs1553315236
|
|
NM_014946.4(SPAST):c.1004+1G>T
|
rs1553315236
|
|
NM_014946.4(SPAST):c.1004+2T>G
|
rs1553315240
|
|
NM_014946.4(SPAST):c.1004+3_1004+6del
|
rs1553315234
|
|
NM_014946.4(SPAST):c.1004+5G>C
|
|
|
NM_014946.4(SPAST):c.1004+5G>T
|
rs1320663265
|
|
NM_014946.4(SPAST):c.1005-16A>C
|
|
|
NM_014946.4(SPAST):c.1005-1G>A
|
rs1553315318
|
|
NM_014946.4(SPAST):c.1005-1G>C
|
rs1553315318
|
|
NM_014946.4(SPAST):c.1005-1G>T
|
rs1553315318
|
|
NM_014946.4(SPAST):c.1005-1del
|
rs2148734462
|
|
NM_014946.4(SPAST):c.1005-2A>C
|
rs1553315316
|
|
NM_014946.4(SPAST):c.1005-5C>A
|
rs377123251
|
|
NM_014946.4(SPAST):c.100C>A (p.Pro34Thr)
|
|
|
NM_014946.4(SPAST):c.1011_1012dup (p.Ala338fs)
|
rs2148734474
|
|
NM_014946.4(SPAST):c.1016T>C (p.Val339Ala)
|
|
|
NM_014946.4(SPAST):c.1018_1022del (p.Val339_Lys340insTer)
|
rs1553315321
|
|
NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)
|
|
|
NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)
|
rs121908513
|
|
NM_014946.4(SPAST):c.1031T>G (p.Ile344Arg)
|
rs121908513
|
|
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)
|
|
|
NM_014946.4(SPAST):c.1033G>C (p.Ala345Pro)
|
|
|
NM_014946.4(SPAST):c.1035T>G (p.Ala345=)
|
|
|
NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)
|
rs1573121594
|
|
NM_014946.4(SPAST):c.1038T>C (p.Gly346=)
|
|
|
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)
|
rs1553315329
|
|
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)
|
rs1678825469
|
|
NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)
|
rs2148734527
|
|
NM_014946.4(SPAST):c.1047G>T (p.Leu349Phe)
|
|
|
NM_014946.4(SPAST):c.1048G>A (p.Ala350Thr)
|
rs1553315333
|
|
NM_014946.4(SPAST):c.1048G>T (p.Ala350Ser)
|
|
|
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val)
|
rs1060502231
|
|
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)
|
rs1057519181
|
|
NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)
|
|
|
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)
|
rs1553315345
|
|
NM_014946.4(SPAST):c.1069del (p.Ile357fs)
|
rs2148734579
|
|
NM_014946.4(SPAST):c.1071del (p.Ile357fs)
|
rs2148734583
|
|
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser)
|
rs1553315350
|
|
NM_014946.4(SPAST):c.1082del (p.Pro361fs)
|
rs2148734593
|
|
NM_014946.4(SPAST):c.1083T>C (p.Pro361=)
|
|
|
NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)
|
rs121908509
|
|
NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)
|
rs121908509
|
|
NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)
|
rs1553315355
|
|
NM_014946.4(SPAST):c.1091G>T (p.Arg364Met)
|
rs1553315355
|
|
NM_014946.4(SPAST):c.1091_1092del (p.Arg364fs)
|
rs1573121790
|
|
NM_014946.4(SPAST):c.1092G>A (p.Arg364=)
|
|
|
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys)
|
rs1553315356
|
|
NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)
|
|
|
NM_014946.4(SPAST):c.1098+1G>A
|
rs1377020559
|
|
NM_014946.4(SPAST):c.1098+2T>A
|
rs2148734626
|
|
NM_014946.4(SPAST):c.1099-1062_1246-1342del
|
|
|
NM_014946.4(SPAST):c.1099-12T>C
|
rs1239734940
|
|
NM_014946.4(SPAST):c.1099-17A>C
|
|
|
NM_014946.4(SPAST):c.1099-1G>A
|
rs2148744884
|
|
NM_014946.4(SPAST):c.1099-1G>C
|
|
|
NM_014946.4(SPAST):c.1099-20C>G
|
|
|
NM_014946.4(SPAST):c.1099-4371_1245+1010del
|
|
|
NM_014946.4(SPAST):c.1099-956_1246-1672del
|
|
|
NM_014946.4(SPAST):c.10C>T (p.Pro4Ser)
|
rs937319046
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)
|
rs1553316802
|
|
NM_014946.4(SPAST):c.1107A>G (p.Thr369=)
|
rs1573139443
|
|
NM_014946.4(SPAST):c.1108G>T (p.Gly370Trp)
|
rs2148744904
|
|
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)
|
rs1060499670
|
|
NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)
|
|
|
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)
|
rs1553316806
|
|
NM_014946.4(SPAST):c.1115G>T (p.Arg372Ile)
|
rs864622327
|
|
NM_014946.4(SPAST):c.1115del (p.Arg372fs)
|
|
|
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)
|
rs1425976342
|
|
NM_014946.4(SPAST):c.1117G>C (p.Ala373Pro)
|
rs1679214464
|
|
NM_014946.4(SPAST):c.1118del (p.Ala373fs)
|
rs2148744935
|
|
NM_014946.4(SPAST):c.1119T>C (p.Ala373=)
|
|
|
NM_014946.4(SPAST):c.1129G>C (p.Gly377Arg)
|
rs1679215171
|
|
NM_014946.4(SPAST):c.1132C>G (p.Leu378Val)
|
rs2148744957
|
|
NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)
|
rs1553316816
|
|
NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro)
|
rs1553316819
|
|
NM_014946.4(SPAST):c.1139_1160del (p.Leu380fs)
|
rs2148744982
|
|
NM_014946.4(SPAST):c.113C>T (p.Pro38Leu)
|
rs1041662261
|
|
NM_014946.4(SPAST):c.113dup (p.Ala39fs)
|
|
|
NM_014946.4(SPAST):c.1141T>G (p.Phe381Val)
|
rs1553316821
|
|
NM_014946.4(SPAST):c.1144G>T (p.Gly382Cys)
|
|
|
NM_014946.4(SPAST):c.1145G>C (p.Gly382Ala)
|
rs2148744995
|
|
NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)
|
rs2148745001
|
|
NM_014946.4(SPAST):c.1149A>G (p.Pro383=)
|
|
|
NM_014946.4(SPAST):c.1149A>T (p.Pro383=)
|
|
|
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)
|
rs1573139616
|
|
NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu)
|
rs1573139616
|
|
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
|
|
|
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)
|
rs121908514
|
|
NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg)
|
rs1679217117
|
|
NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg)
|
rs1553316837
|
|
NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn)
|
rs1553316838
|
|
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)
|
rs1553316838
|
|
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)
|
rs786204132
|
|
NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)
|
|
|
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)
|
rs797044850
|
|
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)
|
rs1131691977
|
|
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)
|
rs1131691971
|
|
NM_014946.4(SPAST):c.1173+185_1245del
|
|
|
NM_014946.4(SPAST):c.1173+1G>A
|
rs1060502226
|
|
NM_014946.4(SPAST):c.1173+20T>C
|
rs1196646723
|
|
NM_014946.4(SPAST):c.1173+2dup
|
|
|
NM_014946.4(SPAST):c.1173+7G>T
|
|
|
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
|
rs1679218212
|
|
NM_014946.4(SPAST):c.1174-15T>C
|
|
|
NM_014946.4(SPAST):c.1174-16C>T
|
|
|
NM_014946.4(SPAST):c.1174-19G>T
|
|
|
NM_014946.4(SPAST):c.1174-1G>A
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1174-1G>C
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1174-270_1246-1724dup
|
|
|
NM_014946.4(SPAST):c.1174-2A>T
|
rs1553317018
|
|
NM_014946.4(SPAST):c.1174-5T>C
|
rs1271850172
|
|
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)
|
rs1558331867
|
|
NM_014946.4(SPAST):c.1179_1194del (p.Lys393fs)
|
|
|
NM_014946.4(SPAST):c.117C>G (p.Ala39=)
|
|
|
NM_014946.4(SPAST):c.1180del (p.Ala394fs)
|
rs1679263902
|
|
NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)
|
rs1189374970
|
|
NM_014946.4(SPAST):c.1182A>G (p.Ala394=)
|
rs1679264088
|
|
NM_014946.4(SPAST):c.1186G>C (p.Ala396Pro)
|
|
|
NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)
|
|
|
NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1199del (p.Asn400fs)
|
|
|
NM_014946.4(SPAST):c.119C>T (p.Pro40Leu)
|
|
|
NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)
|
|
|
NM_014946.4(SPAST):c.1206C>T (p.Thr402=)
|
|
|
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)
|
rs1553317028
|
|
NM_014946.4(SPAST):c.1208_1212del (p.Thr402_Phe403insTer)
|
rs1553317029
|
|
NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)
|
rs1553317030
|
|
NM_014946.4(SPAST):c.1209del (p.Phe404fs)
|
rs1057520127
|
|
NM_014946.4(SPAST):c.120_121delinsAA (p.Pro41Thr)
|
|
|
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del)
|
rs1679265391
|
|
NM_014946.4(SPAST):c.1211T>C (p.Phe404Ser)
|
rs1679265515
|
|
NM_014946.4(SPAST):c.1215_1218del (p.Asn405fs)
|
rs2148746358
|
|
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs)
|
rs1553317032
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
NM_014946.4(SPAST):c.1217T>C (p.Ile406Thr)
|
rs1553317038
|
|
NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)
|
rs1553317041
|
|
NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn)
|
rs1573142616
|
|
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val)
|
rs1553317043
|
|
NM_014946.4(SPAST):c.1224T>G (p.Ala408=)
|
|
|
NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr)
|
rs1064793273
|
|
NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu)
|
rs2148746390
|
|
NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)
|
rs2148746390
|
|
NM_014946.4(SPAST):c.1228A>C (p.Ser410Arg)
|
rs1679266894
|
|
NM_014946.4(SPAST):c.1229G>T (p.Ser410Ile)
|
|
|
NM_014946.4(SPAST):c.1232T>C (p.Leu411Ser)
|
rs1558331955
|
|
NM_014946.4(SPAST):c.1237T>A (p.Ser413Thr)
|
rs1679267183
|
|
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)
|
rs1553317045
|
|
NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu)
|
rs1553317045
|
|
NM_014946.4(SPAST):c.123G>T (p.Pro41=)
|
|
|
NM_014946.4(SPAST):c.1240A>C (p.Lys414Gln)
|
|
|
NM_014946.4(SPAST):c.1242A>G (p.Lys414=)
|
rs1553317048
|
|
NM_014946.4(SPAST):c.1245+10_1245+11del
|
rs755187805
|
|
NM_014946.4(SPAST):c.1245+19A>G
|
|
|
NM_014946.4(SPAST):c.1245+1G>C
|
|
|
NM_014946.4(SPAST):c.1245+2_1245+4dup
|
|
|
NM_014946.4(SPAST):c.1245+3G>C
|
rs2148746437
|
|
NM_014946.4(SPAST):c.1245+4A>G
|
rs587777755
|
|
NM_014946.4(SPAST):c.1245+5G>A
|
rs1553317049
|
|
NM_014946.4(SPAST):c.1245+6T>G
|
rs1553317050
|
|
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer)
|
rs863224513
|
|
NM_014946.4(SPAST):c.1246-21_1246-14del
|
|
|
NM_014946.4(SPAST):c.1246-2896_1493+523dup
|
|
|
NM_014946.4(SPAST):c.1246-2897_1493+523dup
|
|
|
NM_014946.4(SPAST):c.1246G>A (p.Val416Met)
|
|
|
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala)
|
rs1558336489
|
|
NM_014946.4(SPAST):c.124C>G (p.Pro42Ala)
|
|
|
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)
|
rs1553318161
|
|
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val)
|
rs1553318161
|
|
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)
|
rs1553318164
|
|
NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter)
|
rs1553318164
|
|
NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)
|
rs2148753625
|
|
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)
|
rs1558336544
|
|
NM_014946.4(SPAST):c.1255G>A (p.Gly419Arg)
|
|
|
NM_014946.4(SPAST):c.1256G>T (p.Gly419Val)
|
|
|
NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln)
|
rs1558336551
|
|
NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)
|
rs2148753634
|
|
NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp)
|
rs1679543195
|
|
NM_014946.4(SPAST):c.1261A>G (p.Lys421Glu)
|
rs1558336556
|
|
NM_014946.4(SPAST):c.1263del (p.Lys421fs)
|
rs1679543364
|
|
NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)
|
rs1679543653
|
|
NM_014946.4(SPAST):c.1266G>T (p.Leu422Phe)
|
rs1679543653
|
|
NM_014946.4(SPAST):c.1267G>C (p.Val423Leu)
|
rs1553318168
|
|
NM_014946.4(SPAST):c.1267G>T (p.Val423Leu)
|
rs1553318168
|
|
NM_014946.4(SPAST):c.126C>G (p.Pro42=)
|
rs755151658
|
|
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)
|
rs2148753672
|
|
NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)
|
|
|
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)
|
|
|
NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)
|
rs573642949
|
|
NM_014946.4(SPAST):c.1281T>G (p.Phe427Leu)
|
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1291del (p.Arg431fs)
|
|
|
NM_014946.4(SPAST):c.129G>A (p.Glu43=)
|
|
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
|
NM_014946.4(SPAST):c.12G>T (p.Pro4=)
|
|
|
NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)
|
|
|
NM_014946.4(SPAST):c.1303C>A (p.Pro435Thr)
|
|
|
NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu)
|
rs1553318182
|
|
NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)
|
rs2148753700
|
|
NM_014946.4(SPAST):c.1306_1308del (p.Ser436del)
|
rs2148753695
|
|
NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)
|
rs1553318184
|
|
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe)
|
rs1553318184
|
|
NM_014946.4(SPAST):c.1313T>C (p.Ile438Thr)
|
rs2148753712
|
|
NM_014946.4(SPAST):c.1321+13T>C
|
|
|
NM_014946.4(SPAST):c.1321+19A>C
|
|
|
NM_014946.4(SPAST):c.1321+1G>A
|
rs2148753724
|
|
NM_014946.4(SPAST):c.1321+1G>T
|
rs2148753724
|
|
NM_014946.4(SPAST):c.1321+20C>T
|
|
|
NM_014946.4(SPAST):c.1321+2T>G
|
rs2148753725
|
|
NM_014946.4(SPAST):c.1321+2_1321+3insTT
|
|
|
NM_014946.4(SPAST):c.1321+3A>G
|
|
|
NM_014946.4(SPAST):c.1322-16C>G
|
|
|
NM_014946.4(SPAST):c.1322-19A>C
|
rs748912757
|
|
NM_014946.4(SPAST):c.1322-1G>T
|
rs1365753930
|
|
NM_014946.4(SPAST):c.1322-2A>C
|
rs1553318208
|
|
NM_014946.4(SPAST):c.1322-2A>G
|
rs1553318208
|
|
NM_014946.4(SPAST):c.1322-30_1322-2del
|
rs1553318205
|
|
NM_014946.4(SPAST):c.1322-3T>G
|
rs2148753899
|
|
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)
|
rs121908512
|
|
NM_014946.4(SPAST):c.1322A>T (p.Asp441Val)
|
rs121908512
|
|
NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys)
|
rs1553318214
|
|
NM_014946.4(SPAST):c.1325A>T (p.Glu442Val)
|
rs1553318215
|
|
NM_014946.4(SPAST):c.1326_1331del (p.Glu442_Val443del)
|
|
|
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)
|
rs2148753923
|
|
NM_014946.4(SPAST):c.1329T>G (p.Val443=)
|
|
|
NM_014946.4(SPAST):c.132G>T (p.Ser44=)
|
|
|
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly)
|
rs886041597
|
|
NM_014946.4(SPAST):c.1332T>C (p.Asp444=)
|
|
|
NM_014946.4(SPAST):c.1334G>A (p.Ser445Asn)
|
rs1131691838
|
|
NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)
|
rs121908519
|
|
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs)
|
rs1679553611
|
|
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)
|
rs2148753950
|
|
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)
|
rs121908510
|
|
NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)
|
rs2148753960
|
|
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)
|
rs1553318223
|
|
NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys)
|
rs1679553997
|
|
NM_014946.4(SPAST):c.1350_1351del (p.Glu452fs)
|
rs2148753972
|
|
NM_014946.4(SPAST):c.1351A>G (p.Arg451Gly)
|
|
|
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs)
|
rs1384312757
|
|
NM_014946.4(SPAST):c.135G>A (p.Pro45=)
|
rs757100197
|
|
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)
|
rs1553318230
|
|
NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)
|
rs2148753986
|
|
NM_014946.4(SPAST):c.1361dup (p.His455fs)
|
rs1573156283
|
|
NM_014946.4(SPAST):c.1363C>G (p.His455Asp)
|
rs863224769
|
|
NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)
|
|
|
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn)
|
rs1330471269
|
|
NM_014946.4(SPAST):c.1366_1369dup (p.Ala457fs)
|
|
|
NM_014946.4(SPAST):c.1368dup (p.Ala457fs)
|
rs1573156341
|
|
NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)
|
|
|
NM_014946.4(SPAST):c.1374T>G (p.Ser458Arg)
|
rs1036039694
|
|
NM_014946.4(SPAST):c.1375A>C (p.Arg459=)
|
|
|
NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly)
|
rs1553318238
|
|
NM_014946.4(SPAST):c.1375del (p.Arg459fs)
|
rs2148754018
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1379G>A (p.Arg460His)
|
rs1553318241
|
|
NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)
|
|
|
NM_014946.4(SPAST):c.1382del (p.Leu461fs)
|
rs2148754032
|
|
NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)
|
rs1553318246
|
|
NM_014946.4(SPAST):c.1388C>A (p.Thr463Asn)
|
rs2148754049
|
|
NM_014946.4(SPAST):c.138T>G (p.His46Gln)
|
|
|
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)
|
rs1679556566
|
|
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)
|
rs1679556566
|
|
NM_014946.4(SPAST):c.1391A>C (p.Glu464Ala)
|
|
|
NM_014946.4(SPAST):c.1392del (p.Glu464fs)
|
rs1558336906
|
|
NM_014946.4(SPAST):c.1395del (p.Phe465_Leu466insTer)
|
rs587777751
|
|
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)
|
rs1553318252
|
|
NM_014946.4(SPAST):c.1398_1413+1dup
|
rs1558336927
|
|
NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)
|
rs2148754101
|
|
NM_014946.4(SPAST):c.1408G>C (p.Asp470His)
|
rs1553318261
|
|
NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)
|
rs121908516
|
|
NM_014946.4(SPAST):c.1411G>T (p.Gly471Cys)
|
rs1679558360
|
|
NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)
|
rs1553318274
|
|
NM_014946.4(SPAST):c.1413+10G>A
|
rs2148754141
|
|
NM_014946.4(SPAST):c.1413+1G>A
|
rs1553318276
|
|
NM_014946.4(SPAST):c.1413+1_1413+2del
|
rs1679558544
|
|
NM_014946.4(SPAST):c.1413+2dup
|
rs587777756
|
|
NM_014946.4(SPAST):c.1413+3_1413+6del
|
rs570685843
|
|
NM_014946.4(SPAST):c.1413+5G>C
|
rs1553318282
|
|
NM_014946.4(SPAST):c.1413+6T>G
|
rs1553318284
|
|
NM_014946.4(SPAST):c.1414-15A>G
|
|
|
NM_014946.4(SPAST):c.1414-1G>C
|
rs786204163
|
|
NM_014946.4(SPAST):c.1414-2A>G
|
|
|
NM_014946.4(SPAST):c.1414-2A>T
|
rs1553318304
|
|
NM_014946.4(SPAST):c.1414-6T>C
|
|
|
NM_014946.4(SPAST):c.1415T>G (p.Val472Gly)
|
|
|
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)
|
rs757130394
|
|
NM_014946.4(SPAST):c.1419G>A (p.Gln473=)
|
|
|
NM_014946.4(SPAST):c.142C>T (p.Arg48Trp)
|
|
|
NM_014946.4(SPAST):c.1432G>A (p.Asp478Asn)
|
rs1191508807
|
|
NM_014946.4(SPAST):c.1433A>T (p.Asp478Val)
|
rs2148754294
|
|
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)
|
rs864622268
|
|
NM_014946.4(SPAST):c.1441_1446del (p.Leu481_Val482del)
|
|
|
NM_014946.4(SPAST):c.1442_1443insA (p.Val482fs)
|
rs1553318313
|
|
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala)
|
rs1417318347
|
|
NM_014946.4(SPAST):c.1448T>C (p.Met483Thr)
|
rs1679565382
|
|
NM_014946.4(SPAST):c.1448T>G (p.Met483Arg)
|
|
|
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)
|
rs1553318317
|
|
NM_014946.4(SPAST):c.1451G>A (p.Gly484Asp)
|
rs1558337098
|
|
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)
|
rs1553318320
|
|
NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile)
|
rs1558337122
|
|
NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs)
|
rs1558337136
|
|
NM_014946.4(SPAST):c.1459A>C (p.Asn487His)
|
rs1553318323
|
|
NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp)
|
rs1553318323
|
|
NM_014946.4(SPAST):c.1461T>C (p.Asn487=)
|
|
|
NM_014946.4(SPAST):c.1461T>G (p.Asn487Lys)
|
|
|
NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)
|
rs1553318329
|
|
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp)
|
rs1553318329
|
|
NM_014946.4(SPAST):c.1463_1464insATTA (p.Pro489fs)
|
rs2148754355
|
|
NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)
|
rs1553318331
|
|
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)
|
rs1553318336
|
|
NM_014946.4(SPAST):c.1469_1470del (p.Gln490fs)
|
rs1573157108
|
|
NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)
|
rs2148754376
|
|
NM_014946.4(SPAST):c.1477G>C (p.Asp493His)
|
rs1060499939
|
|
NM_014946.4(SPAST):c.1477G>T (p.Asp493Tyr)
|
rs1060499939
|
|
NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)
|
rs1060502228
|
|
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)
|
rs1060502228
|
|
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)
|
rs1553318347
|
|
NM_014946.4(SPAST):c.1486G>C (p.Val496Leu)
|
rs779662872
|
|
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)
|
rs1553318350
|
|
NM_014946.4(SPAST):c.1493+1G>A
|
rs1553318351
|
|
NM_014946.4(SPAST):c.1493+1G>T
|
rs1553318351
|
|
NM_014946.4(SPAST):c.1493+2T>A
|
rs1553318353
|
|
NM_014946.4(SPAST):c.1493+2T>C
|
rs1553318353
|
|
NM_014946.4(SPAST):c.1493+2_1493+5del
|
rs1558337180
|
|
NM_014946.4(SPAST):c.1493+9A>C
|
|
|
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
|
|
|
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr)
|
rs2148754411
|
|
NM_014946.4(SPAST):c.1494-1393_1688-466dup
|
|
|
NM_014946.4(SPAST):c.1494-15G>A
|
|
|
NM_014946.4(SPAST):c.1494-16G>A
|
|
|
NM_014946.4(SPAST):c.1494-1G>A
|
rs1315245986
|
|
NM_014946.4(SPAST):c.1494-1G>C
|
rs1315245986
|
|
NM_014946.4(SPAST):c.1494-2A>C
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1494-2A>G
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1494-2A>T
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1494-3T>G
|
|
|
NM_014946.4(SPAST):c.1494-3del
|
|
|
NM_014946.4(SPAST):c.1494-3dup
|
rs760322678
|
|
NM_014946.4(SPAST):c.1494-5T>G
|
rs1553319072
|
|
NM_014946.4(SPAST):c.1494-9T>C
|
|
|
NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser)
|
rs1553319075
|
|
NM_014946.4(SPAST):c.1495C>A (p.Arg499Ser)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1496del (p.Arg499fs)
|
rs2148758241
|
|
NM_014946.4(SPAST):c.1499T>G (p.Phe500Cys)
|
rs1679732057
|
|
NM_014946.4(SPAST):c.149T>C (p.Leu50Pro)
|
|
|
NM_014946.4(SPAST):c.1500C>G (p.Phe500Leu)
|
|
|
NM_014946.4(SPAST):c.1504A>G (p.Lys502Glu)
|
|
|
NM_014946.4(SPAST):c.1505A>C (p.Lys502Thr)
|
rs1558339891
|
|
NM_014946.4(SPAST):c.1506del (p.Lys502fs)
|
rs2148758252
|
|
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
|
rs864622162
|
|
NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)
|
|
|
NM_014946.4(SPAST):c.1512A>G (p.Val504=)
|
|
|
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs)
|
rs1679732948
|
|
NM_014946.4(SPAST):c.1525C>A (p.Pro509Thr)
|
rs1553319092
|
|
NM_014946.4(SPAST):c.1525C>G (p.Pro509Ala)
|
rs1553319092
|
|
NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser)
|
|
|
NM_014946.4(SPAST):c.1525_1530del (p.Pro509_Asn510del)
|
|
|
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)
|
rs1443578852
|
|
NM_014946.4(SPAST):c.152A>G (p.Tyr51Cys)
|
rs1356486929
|
|
NM_014946.4(SPAST):c.1535_1536+1del
|
rs1558339948
|
|
NM_014946.4(SPAST):c.1536+17G>C
|
rs201026422
|
|
NM_014946.4(SPAST):c.1536+1G>A
|
|
|
NM_014946.4(SPAST):c.1536+27del
|
|
|
NM_014946.4(SPAST):c.1536+27dup
|
|
|
NM_014946.4(SPAST):c.1536+2T>C
|
|
|
NM_014946.4(SPAST):c.1536+2dup
|
rs1573165113
|
|
NM_014946.4(SPAST):c.1536+3A>G
|
|
|
NM_014946.4(SPAST):c.1536+5G>A
|
rs1679734284
|
|
NM_014946.4(SPAST):c.1536G>A (p.Glu512=)
|
rs1553319093
|
|
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)
|
rs1553319093
|
|
NM_014946.4(SPAST):c.1537-10T>G
|
|
|
NM_014946.4(SPAST):c.1537-11A>G
|
rs549538513
|
|
NM_014946.4(SPAST):c.1537-1G>A
|
rs1553319280
|
|
NM_014946.4(SPAST):c.1537-2A>C
|
|
|
NM_014946.4(SPAST):c.1537-2A>T
|
|
|
NM_014946.4(SPAST):c.1537-3C>G
|
rs2148759356
|
|
NM_014946.4(SPAST):c.1537-8T>G
|
rs2148759354
|
|
NM_014946.4(SPAST):c.1537A>T (p.Thr513Ser)
|
rs1553319281
|
|
NM_014946.4(SPAST):c.1538C>A (p.Thr513Lys)
|
|
|
NM_014946.4(SPAST):c.1538C>T (p.Thr513Ile)
|
rs2148759367
|
|
NM_014946.4(SPAST):c.1539_1540del (p.Arg514fs)
|
rs2148759370
|
|
NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter)
|
rs1462628095
|
|
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)
|
rs2148759388
|
|
NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)
|
|
|
NM_014946.4(SPAST):c.1550del (p.Leu517fs)
|
|
|
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)
|
rs1553319290
|
|
NM_014946.4(SPAST):c.1560_1561insTT (p.Leu521fs)
|
rs2148759400
|
|
NM_014946.4(SPAST):c.1561_1564del (p.Leu521fs)
|
rs2148759407
|
|
NM_014946.4(SPAST):c.1562T>A (p.Leu521Gln)
|
|
|
NM_014946.4(SPAST):c.1562dup (p.Leu522fs)
|
rs2148759412
|
|
NM_014946.4(SPAST):c.1563del (p.Leu522fs)
|
|
|
NM_014946.4(SPAST):c.1565T>C (p.Leu522Ser)
|
|
|
NM_014946.4(SPAST):c.1567del (p.Cys523fs)
|
|
|
NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter)
|
rs1553394497
|
|
NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter)
|
rs1553319296
|
|
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs)
|
rs1553319298
|
|
NM_014946.4(SPAST):c.157T>C (p.Phe53Leu)
|
rs200029938
|
|
NM_014946.4(SPAST):c.1583del (p.Pro528fs)
|
rs1573167562
|
|
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)
|
rs2148759447
|
|
NM_014946.4(SPAST):c.1600C>A (p.Leu534Ile)
|
|
|
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)
|
rs1553319317
|
|
NM_014946.4(SPAST):c.1601del (p.Leu534fs)
|
rs1553319318
|
|
NM_014946.4(SPAST):c.1606C>T (p.Gln536Ter)
|
rs2148759473
|
|
NM_014946.4(SPAST):c.1607_1609del (p.Gln536del)
|
rs2148759471
|
|
NM_014946.4(SPAST):c.1613C>A (p.Ala538Asp)
|
|
|
NM_014946.4(SPAST):c.1614T>G (p.Ala538=)
|
|
|
NM_014946.4(SPAST):c.1614dup (p.Arg539Ter)
|
|
|
NM_014946.4(SPAST):c.1616+19G>C
|
|
|
NM_014946.4(SPAST):c.1616+1G>A
|
rs1553319327
|
|
NM_014946.4(SPAST):c.1616+1G>C
|
rs1553319327
|
|
NM_014946.4(SPAST):c.1616+5G>A
|
rs2148759485
|
|
NM_014946.4(SPAST):c.1617-15C>T
|
|
|
NM_014946.4(SPAST):c.1617-15_1624dup
|
rs2148760797
|
|
NM_014946.4(SPAST):c.1617-1G>A
|
rs1553319526
|
|
NM_014946.4(SPAST):c.1617-1G>T
|
|
|
NM_014946.4(SPAST):c.1617-2A>G
|
rs1553319524
|
|
NM_014946.4(SPAST):c.1617-2A>T
|
rs1553319524
|
|
NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)
|
|
|
NM_014946.4(SPAST):c.1624G>C (p.Asp542His)
|
|
|
NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)
|
|
|
NM_014946.4(SPAST):c.1632C>T (p.Tyr544=)
|
|
|
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)
|
|
|
NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg)
|
rs2148760843
|
|
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)
|
rs786204057
|
|
NM_014946.4(SPAST):c.1637G>T (p.Gly546Val)
|
rs786204057
|
|
NM_014946.4(SPAST):c.1641T>C (p.Ser547=)
|
|
|
NM_014946.4(SPAST):c.1642G>C (p.Asp548His)
|
|
|
NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)
|
|
|
NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro)
|
rs1553319534
|
|
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)
|
rs1553319537
|
|
NM_014946.4(SPAST):c.164A>C (p.Tyr55Ser)
|
|
|
NM_014946.4(SPAST):c.1651G>C (p.Ala551Pro)
|
|
|
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)
|
rs368951498
|
|
NM_014946.4(SPAST):c.1663G>C (p.Asp555His)
|
|
|
NM_014946.4(SPAST):c.1664A>C (p.Asp555Ala)
|
|
|
NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)
|
|
|
NM_014946.4(SPAST):c.1666G>A (p.Ala556Thr)
|
rs1558341948
|
|
NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro)
|
rs1558341948
|
|
NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)
|
rs2148760886
|
|
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer)
|
rs1553394509
|
|
NM_014946.4(SPAST):c.1672C>G (p.Leu558Val)
|
|
|
NM_014946.4(SPAST):c.1673T>C (p.Leu558Pro)
|
|
|
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)
|
rs878854992
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_014946.4(SPAST):c.167C>G (p.Pro56Arg)
|
|
|
NM_014946.4(SPAST):c.167C>T (p.Pro56Leu)
|
rs1676399509
|
|
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
|
|
|
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1687+15G>A
|
rs1679842413
|
|
NM_014946.4(SPAST):c.1688-1G>A
|
rs1573174147
|
|
NM_014946.4(SPAST):c.1688-1G>C
|
rs1573174147
|
|
NM_014946.4(SPAST):c.1688-2A>G
|
rs587777752
|
|
NM_014946.4(SPAST):c.1688-378_1728+1541del
|
|
|
NM_014946.4(SPAST):c.1688-3C>G
|
|
|
NM_014946.4(SPAST):c.1688-3C>T
|
rs1679915565
|
|
NM_014946.4(SPAST):c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr)
|
rs2148762766
|
|
NM_014946.4(SPAST):c.168G>A (p.Pro56=)
|
|
|
NM_014946.4(SPAST):c.1691del (p.Leu564fs)
|
rs2148762771
|
|
NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)
|
|
|
NM_014946.4(SPAST):c.1701dup (p.Gln568fs)
|
rs2148762787
|
|
NM_014946.4(SPAST):c.1714_1715del (p.Met572fs)
|
rs2148762813
|
|
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)
|
rs138146982
|
|
NM_014946.4(SPAST):c.1723del (p.Ser575fs)
|
|
|
NM_014946.4(SPAST):c.1724_1725insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNNNAAAAAAAAAAAAAAAAAAGAATATGTCTGCCAG (p.Ser575fs)
|
rs2148762802
|
|
NM_014946.4(SPAST):c.1728+12T>C
|
|
|
NM_014946.4(SPAST):c.1728+14_1728+15insTC
|
|
|
NM_014946.4(SPAST):c.1728+16A>C
|
|
|
NM_014946.4(SPAST):c.1728+18_1728+19insGCAG
|
|
|
NM_014946.4(SPAST):c.1728+1G>A
|
rs587777754
|
|
NM_014946.4(SPAST):c.1728+1G>C
|
rs587777754
|
|
NM_014946.4(SPAST):c.1728+1G>T
|
rs587777754
|
|
NM_014946.4(SPAST):c.1728+2T>G
|
rs1553319874
|
|
NM_014946.4(SPAST):c.1728G>A (p.Glu576=)
|
rs1060502225
|
|
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp)
|
rs1060502225
|
|
NM_014946.4(SPAST):c.1729-1G>A
|
rs1064793976
|
|
NM_014946.4(SPAST):c.1729-1G>C
|
rs1064793976
|
|
NM_014946.4(SPAST):c.1729-2A>G
|
rs1553321194
|
|
NM_014946.4(SPAST):c.1729-3331_*1641del
|
|
|
NM_014946.4(SPAST):c.1729-5T>A
|
|
|
NM_014946.4(SPAST):c.1729-884_*1715del
|
|
|
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)
|
rs1553321196
|
|
NM_014946.4(SPAST):c.1739T>A (p.Ile580Asn)
|
|
|
NM_014946.4(SPAST):c.1740del (p.Arg581fs)
|
rs1680184249
|
|
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)
|
rs778023258
|
|
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)
|
rs749484350
|
|
NM_014946.4(SPAST):c.1744T>C (p.Leu582=)
|
rs886055962
|
|
NM_014946.4(SPAST):c.1754T>C (p.Phe585Ser)
|
rs2148769272
|
|
NM_014946.4(SPAST):c.1755C>A (p.Phe585Leu)
|
rs778602122
|
|
NM_014946.4(SPAST):c.1755C>T (p.Phe585=)
|
|
|
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)
|
rs1131691972
|
|
NM_014946.4(SPAST):c.1762_1785del (p.Ser588_Ser595del)
|
|
|
NM_014946.4(SPAST):c.1767del (p.Lys591_Ile592insTer)
|
rs2148769284
|
|
NM_014946.4(SPAST):c.1768A>G (p.Lys590Glu)
|
|
|
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.1774dup (p.Ile592fs)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
NM_014946.4(SPAST):c.1775T>G (p.Ile592Arg)
|
|
|
NM_014946.4(SPAST):c.1775_1777del (p.Ile592del)
|
rs2148769305
|
|
NM_014946.4(SPAST):c.1776A>G (p.Ile592Met)
|
|
|
NM_014946.4(SPAST):c.1780C>T (p.Arg594Cys)
|
rs1680185992
|
|
NM_014946.4(SPAST):c.1781del (p.Arg594fs)
|
rs2148769324
|
|
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn)
|
rs2148769328
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg)
|
rs145206063
|
|
NM_014946.4(SPAST):c.1796A>C (p.Gln599Pro)
|
|
|
NM_014946.4(SPAST):c.1797A>G (p.Gln599=)
|
|
|
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp)
|
rs1558605758
|
|
NM_014946.4(SPAST):c.17G>A (p.Gly6Glu)
|
|
|
NM_014946.4(SPAST):c.1815_1816insGA (p.Arg606fs)
|
|
|
NM_014946.4(SPAST):c.1816C>T (p.Arg606Cys)
|
|
|
NM_014946.4(SPAST):c.1834G>A (p.Gly612Arg)
|
|
|
NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)
|
rs1553321269
|
|
NM_014946.4(SPAST):c.1840del (p.Thr614fs)
|
rs2148769396
|
|
NM_014946.4(SPAST):c.1840dup (p.Thr614fs)
|
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)
|
|
|
NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)
|
|
|
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)
|
rs1553321270
|
|
NM_014946.4(SPAST):c.185dup (p.Leu63fs)
|
|
|
NM_014946.4(SPAST):c.188TGC[3] (p.Leu64_Arg65insLeu)
|
|
|
NM_014946.4(SPAST):c.189G>C (p.Leu63=)
|
|
|
NM_014946.4(SPAST):c.198G>C (p.Leu66Phe)
|
rs2148685510
|
|
NM_014946.4(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro)
|
rs1558605777
|
|
NM_014946.4(SPAST):c.19C>A (p.Arg7=)
|
rs779449573
|
|
NM_014946.4(SPAST):c.1A>G (p.Met1Val)
|
|
|
NM_014946.4(SPAST):c.207C>T (p.Phe69=)
|
|
|
NM_014946.4(SPAST):c.207_222dup (p.Phe75fs)
|
|
|
NM_014946.4(SPAST):c.208C>A (p.His70Asn)
|
|
|
NM_014946.4(SPAST):c.209A>T (p.His70Leu)
|
|
|
NM_014946.4(SPAST):c.20G>T (p.Arg7Leu)
|
rs750900931
|
|
NM_014946.4(SPAST):c.211C>T (p.Leu71=)
|
rs2148685540
|
|
NM_014946.4(SPAST):c.212del (p.Leu71fs)
|
rs2148685545
|
|
NM_014946.4(SPAST):c.217del (p.Leu73fs)
|
|
|
NM_014946.4(SPAST):c.219C>T (p.Leu73=)
|
|
|
NM_014946.4(SPAST):c.225C>A (p.Phe75Leu)
|
|
|
NM_014946.4(SPAST):c.225_226insCAC (p.Phe75_Val76insHis)
|
|
|
NM_014946.4(SPAST):c.226G>T (p.Val76Leu)
|
|
|
NM_014946.4(SPAST):c.232C>G (p.Leu78Val)
|
rs1558605868
|
|
NM_014946.4(SPAST):c.234C>A (p.Leu78=)
|
|
|
NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)
|
|
|
NM_014946.4(SPAST):c.23G>A (p.Gly8Glu)
|
|
|
NM_014946.4(SPAST):c.243C>A (p.Arg81=)
|
|
|
NM_014946.4(SPAST):c.24G>A (p.Gly8=)
|
|
|
NM_014946.4(SPAST):c.259_260del (p.Met87fs)
|
rs2148685612
|
|
NM_014946.4(SPAST):c.269A>G (p.Lys90Arg)
|
|
|
NM_014946.4(SPAST):c.26A>G (p.Lys9Arg)
|
|
|
NM_014946.4(SPAST):c.277T>C (p.Ser93Pro)
|
rs1156801351
|
|
NM_014946.4(SPAST):c.277T>G (p.Ser93Ala)
|
|
|
NM_014946.4(SPAST):c.27G>A (p.Lys9=)
|
|
|
NM_014946.4(SPAST):c.280G>A (p.Gly94Arg)
|
rs750218565
|
|
NM_014946.4(SPAST):c.284C>T (p.Ala95Val)
|
rs780016543
|
|
NM_014946.4(SPAST):c.285C>G (p.Ala95=)
|
rs754540160
|
|
NM_014946.4(SPAST):c.285C>T (p.Ala95=)
|
rs754540160
|
|
NM_014946.4(SPAST):c.286del (p.Ala96fs)
|
rs1573028017
|
|
NM_014946.4(SPAST):c.290C>G (p.Pro97Arg)
|
rs1314430315
|
|
NM_014946.4(SPAST):c.293C>T (p.Ala98Val)
|
|
|
NM_014946.4(SPAST):c.295C>T (p.Pro99Ser)
|
|
|
NM_014946.4(SPAST):c.296C>T (p.Pro99Leu)
|
|
|
NM_014946.4(SPAST):c.301TCGGCC[3] (p.Ala104_Pro105insSerAla)
|
|
|
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)
|
rs746263735
|
|
NM_014946.4(SPAST):c.303G>A (p.Ser101=)
|
|
|
NM_014946.4(SPAST):c.306C>T (p.Ala102=)
|
|
|
NM_014946.4(SPAST):c.312C>A (p.Ala104=)
|
|
|
NM_014946.4(SPAST):c.312C>T (p.Ala104=)
|
rs1198003195
|
|
NM_014946.4(SPAST):c.312_317del (p.104AP[1])
|
|
|
NM_014946.4(SPAST):c.312_317dup (p.104AP[3])
|
rs747993450
|
|
NM_014946.4(SPAST):c.314del (p.Pro105fs)
|
rs2148685718
|
|
NM_014946.4(SPAST):c.317C>T (p.Ala106Val)
|
rs1385218846
|
|
NM_014946.4(SPAST):c.320C>T (p.Pro107Leu)
|
rs776858496
|
|
NM_014946.4(SPAST):c.326C>G (p.Pro109Arg)
|
|
|
NM_014946.4(SPAST):c.327G>A (p.Pro109=)
|
|
|
NM_014946.4(SPAST):c.328_340del (p.Gly110fs)
|
rs1410418105
|
|
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)
|
rs1553394603
|
|
NM_014946.4(SPAST):c.339C>T (p.Ala113=)
|
|
|
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)
|
rs1553394608
|
|
NM_014946.4(SPAST):c.344_353dup (p.Phe119fs)
|
rs1558606204
|
|
NM_014946.4(SPAST):c.358del (p.His120fs)
|
rs2148685798
|
|
NM_014946.4(SPAST):c.360C>T (p.His120=)
|
|
|
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)
|
rs1553394620
|
|
NM_014946.4(SPAST):c.369C>T (p.Ala123=)
|
rs959239665
|
|
NM_014946.4(SPAST):c.369dup (p.Phe124fs)
|
|
|
NM_014946.4(SPAST):c.372C>G (p.Phe124Leu)
|
rs754912349
|
|
NM_014946.4(SPAST):c.377A>G (p.Tyr126Cys)
|
|
|
NM_014946.4(SPAST):c.377A>T (p.Tyr126Phe)
|
rs781065348
|
|
NM_014946.4(SPAST):c.379A>G (p.Ile127Val)
|
rs1395313104
|
|
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)
|
rs781222498
|
|
NM_014946.4(SPAST):c.381C>T (p.Ile127=)
|
|
|
NM_014946.4(SPAST):c.390C>G (p.Ala130=)
|
|
|
NM_014946.4(SPAST):c.390_391del (p.Leu131fs)
|
rs2148685848
|
|
NM_014946.4(SPAST):c.390_391delinsGGT (p.Leu131fs)
|
rs1060502230
|
|
NM_014946.4(SPAST):c.391C>T (p.Leu131=)
|
rs1440932106
|
|
NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)
|
rs2148685859
|
|
NM_014946.4(SPAST):c.397A>G (p.Ile133Val)
|
|
|
NM_014946.4(SPAST):c.39C>T (p.Ser13=)
|
|
|
NM_014946.4(SPAST):c.3G>C (p.Met1Ile)
|
|
|
NM_014946.4(SPAST):c.402T>C (p.Asp134=)
|
|
|
NM_014946.4(SPAST):c.40G>A (p.Gly14Ser)
|
|
|
NM_014946.4(SPAST):c.410del (p.Glu137fs)
|
rs1060502229
|
|
NM_014946.4(SPAST):c.411_412dup (p.Lys138fs)
|
|
|
NM_014946.4(SPAST):c.415+10G>T
|
rs1354537232
|
|
NM_014946.4(SPAST):c.415+12G>C
|
rs539075273
|
|
NM_014946.4(SPAST):c.415+1G>A
|
rs1057521135
|
|
NM_014946.4(SPAST):c.415+1G>C
|
|
|
NM_014946.4(SPAST):c.415+1G>T
|
rs1057521135
|
|
NM_014946.4(SPAST):c.416-11T>C
|
|
|
NM_014946.4(SPAST):c.416-16A>T
|
|
|
NM_014946.4(SPAST):c.416-17_416-15del
|
|
|
NM_014946.4(SPAST):c.419G>T (p.Gly140Val)
|
|
|
NM_014946.4(SPAST):c.421C>G (p.Gln141Glu)
|
|
|
NM_014946.4(SPAST):c.422_425del (p.Gln141fs)
|
rs1553399472
|
|
NM_014946.4(SPAST):c.426G>A (p.Lys142=)
|
rs2148708873
|
|
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter)
|
rs1553399476
|
|
NM_014946.4(SPAST):c.443G>A (p.Trp148Ter)
|
rs1573068995
|
|
NM_014946.4(SPAST):c.443delinsTAC (p.Trp148fs)
|
|
|
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)
|
rs1553399493
|
|
NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)
|
rs1553399498
|
|
NM_014946.4(SPAST):c.453A>G (p.Lys151=)
|
|
|
NM_014946.4(SPAST):c.453dup (p.Gly152fs)
|
rs587777753
|
|
NM_014946.4(SPAST):c.465del (p.Glu155fs)
|
rs863224514
|
|
NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)
|
|
|
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala)
|
rs770141489
|
|
NM_014946.4(SPAST):c.494C>T (p.Thr165Ile)
|
|
|
NM_014946.4(SPAST):c.494del (p.Thr165fs)
|
rs2148708949
|
|
NM_014946.4(SPAST):c.502+10T>C
|
|
|
NM_014946.4(SPAST):c.502+8T>C
|
|
|
NM_014946.4(SPAST):c.502+9G>A
|
rs1677536089
|
|
NM_014946.4(SPAST):c.502+9del
|
|
|
NM_014946.4(SPAST):c.503-8dup
|
|
|
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)
|
rs886039695
|
|
NM_014946.4(SPAST):c.511T>C (p.Cys171Arg)
|
rs746073001
|
|
NM_014946.4(SPAST):c.514G>T (p.Glu172Ter)
|
rs2148710558
|
|
NM_014946.4(SPAST):c.519A>G (p.Arg173=)
|
rs1677627735
|
|
NM_014946.4(SPAST):c.521del (p.Ala174fs)
|
rs1677627829
|
|
NM_014946.4(SPAST):c.526C>A (p.Arg176Ser)
|
rs775364035
|
|
NM_014946.4(SPAST):c.526C>T (p.Arg176Cys)
|
|
|
NM_014946.4(SPAST):c.528C>G (p.Arg176=)
|
|
|
NM_014946.4(SPAST):c.532C>T (p.Gln178Ter)
|
rs1677628649
|
|
NM_014946.4(SPAST):c.562del (p.Ala188fs)
|
rs1553400002
|
|
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)
|
rs1553400013
|
|
NM_014946.4(SPAST):c.57G>C (p.Pro19=)
|
|
|
NM_014946.4(SPAST):c.580del (p.Leu194fs)
|
rs2148710617
|
|
NM_014946.4(SPAST):c.586+14T>C
|
|
|
NM_014946.4(SPAST):c.586+3A>G
|
rs1677631075
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
NM_014946.4(SPAST):c.587-14T>G
|
|
|
NM_014946.4(SPAST):c.587-4A>G
|
rs1400181900
|
|
NM_014946.4(SPAST):c.589A>G (p.Lys197Glu)
|
|
|
NM_014946.4(SPAST):c.601G>A (p.Val201Ile)
|
|
|
NM_014946.4(SPAST):c.606G>A (p.Leu202=)
|
|
|
NM_014946.4(SPAST):c.609A>G (p.Pro203=)
|
|
|
NM_014946.4(SPAST):c.60G>T (p.Val20=)
|
rs752272987
|
|
NM_014946.4(SPAST):c.638A>G (p.Asn213Ser)
|
|
|
NM_014946.4(SPAST):c.642C>A (p.Asp214Glu)
|
rs1678016729
|
|
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn)
|
rs774722817
|
|
NM_014946.4(SPAST):c.651C>A (p.Asn217Lys)
|
|
|
NM_014946.4(SPAST):c.659G>A (p.Cys220Tyr)
|
|
|
NM_014946.4(SPAST):c.662G>A (p.Arg221His)
|
|
|
NM_014946.4(SPAST):c.662G>T (p.Arg221Leu)
|
|
|
NM_014946.4(SPAST):c.664A>T (p.Asn222Tyr)
|
|
|
NM_014946.4(SPAST):c.665A>G (p.Asn222Ser)
|
|
|
NM_014946.4(SPAST):c.67A>G (p.Arg23Gly)
|
|
|
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)
|
rs1676388641
|
|
NM_014946.4(SPAST):c.682+20C>T
|
|
|
NM_014946.4(SPAST):c.683-1277_870+399del
|
|
|
NM_014946.4(SPAST):c.683-12T>C
|
|
|
NM_014946.4(SPAST):c.683-13T>C
|
|
|
NM_014946.4(SPAST):c.683-15C>G
|
rs1678752312
|
|
NM_014946.4(SPAST):c.683-16A>G
|
|
|
NM_014946.4(SPAST):c.683-3C>G
|
|
|
NM_014946.4(SPAST):c.683-7033_1004+30del
|
|
|
NM_014946.4(SPAST):c.685A>G (p.Ser229Gly)
|
|
|
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)
|
rs558882317
|
|
NM_014946.4(SPAST):c.690_1099-4223del
|
|
|
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer)
|
rs1678753568
|
|
NM_014946.4(SPAST):c.698del (p.Pro233fs)
|
rs1573118105
|
|
NM_014946.4(SPAST):c.6_7del (p.Pro4fs)
|
rs1553394366
|
|
NM_014946.4(SPAST):c.70C>T (p.Pro24Ser)
|
|
|
NM_014946.4(SPAST):c.722A>G (p.His241Arg)
|
|
|
NM_014946.4(SPAST):c.724_725del (p.His241_Thr242insTer)
|
rs1558323426
|
|
NM_014946.4(SPAST):c.72_90dup (p.Pro31fs)
|
rs886800078
|
|
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)
|
rs1553314896
|
|
NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)
|
|
|
NM_014946.4(SPAST):c.740C>G (p.Pro247Arg)
|
rs1316217696
|
|
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)
|
rs1553314902
|
|
NM_014946.4(SPAST):c.746dup (p.Thr251fs)
|
rs2148732927
|
|
NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)
|
rs1318536893
|
|
NM_014946.4(SPAST):c.751dup (p.Thr251fs)
|
|
|
NM_014946.4(SPAST):c.753del (p.Val252fs)
|
rs1678756927
|
|
NM_014946.4(SPAST):c.757dup (p.Met253fs)
|
rs2148732951
|
|
NM_014946.4(SPAST):c.759G>A (p.Met253Ile)
|
|
|
NM_014946.4(SPAST):c.75G>A (p.Pro25=)
|
|
|
NM_014946.4(SPAST):c.763dup (p.Thr255fs)
|
|
|
NM_014946.4(SPAST):c.768A>G (p.Gly256=)
|
rs2148732966
|
|
NM_014946.4(SPAST):c.768A>T (p.Gly256=)
|
|
|
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter)
|
rs768241184
|
|
NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)
|
|
|
NM_014946.4(SPAST):c.786C>T (p.Gly262=)
|
|
|
NM_014946.4(SPAST):c.78C>T (p.Pro26=)
|
|
|
NM_014946.4(SPAST):c.796G>A (p.Ala266Thr)
|
|
|
NM_014946.4(SPAST):c.803_806dup (p.Tyr269Ter)
|
|
|
NM_014946.4(SPAST):c.806dup (p.Tyr269Ter)
|
|
|
NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)
|
rs771388402
|
|
NM_014946.4(SPAST):c.808A>C (p.Ser270Arg)
|
|
|
NM_014946.4(SPAST):c.808A>G (p.Ser270Gly)
|
|
|
NM_014946.4(SPAST):c.811_817del (p.Gly271fs)
|
|
|
NM_014946.4(SPAST):c.816A>C (p.Leu272Phe)
|
|
|
NM_014946.4(SPAST):c.818C>A (p.Ser273Tyr)
|
|
|
NM_014946.4(SPAST):c.819_829del (p.Met274fs)
|
|
|
NM_014946.4(SPAST):c.820A>G (p.Met274Val)
|
|
|
NM_014946.4(SPAST):c.830G>T (p.Gly277Val)
|
rs1678761963
|
|
NM_014946.4(SPAST):c.832G>C (p.Val278Leu)
|
rs369908571
|
|
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)
|
rs1553314948
|
|
NM_014946.4(SPAST):c.839A>C (p.Gln280Pro)
|
|
|
NM_014946.4(SPAST):c.839_840del (p.Gln280fs)
|
rs1678762730
|
|
NM_014946.4(SPAST):c.83G>C (p.Cys28Ser)
|
rs1676390484
|
|
NM_014946.4(SPAST):c.842del (p.Gly281fs)
|
|
|
NM_014946.4(SPAST):c.843_846dup (p.Gly283fs)
|
rs2148733110
|
|
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
|
|
|
NM_014946.4(SPAST):c.853G>A (p.Ala285Thr)
|
|
|
NM_014946.4(SPAST):c.857del (p.Pro286fs)
|
|
|
NM_014946.4(SPAST):c.863C>T (p.Thr288Ile)
|
rs148680726
|
|
NM_014946.4(SPAST):c.867_868del (p.His289fs)
|
rs1558323659
|
|
NM_014946.4(SPAST):c.869A>G (p.Lys290Arg)
|
rs2148733158
|
|
NM_014946.4(SPAST):c.870+1G>A
|
rs1553314978
|
|
NM_014946.4(SPAST):c.870+1G>T
|
rs1553314978
|
|
NM_014946.4(SPAST):c.870+2T>C
|
|
|
NM_014946.4(SPAST):c.870+3A>G
|
rs1553314979
|
|
NM_014946.4(SPAST):c.870G>A (p.Lys290=)
|
rs1421791559
|
|
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
|
|
|
NM_014946.4(SPAST):c.871-12G>A
|
rs764275621
|
|
NM_014946.4(SPAST):c.871-17del
|
|
|
NM_014946.4(SPAST):c.871-1G>A
|
rs1057524526
|
|
NM_014946.4(SPAST):c.871-1G>C
|
rs1057524526
|
|
NM_014946.4(SPAST):c.871-29_871-9del
|
|
|
NM_014946.4(SPAST):c.871-368_1098+4142del
|
|
|
NM_014946.4(SPAST):c.871G>T (p.Gly291Cys)
|
|
|
NM_014946.4(SPAST):c.872G>T (p.Gly291Val)
|
|
|
NM_014946.4(SPAST):c.872del
|
rs1678801811
|
|
NM_014946.4(SPAST):c.87G>A (p.Leu29=)
|
|
|
NM_014946.4(SPAST):c.883dup (p.Thr295fs)
|
rs1553315181
|
|
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs)
|
rs1678803263
|
|
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)
|
rs2148734025
|
|
NM_014946.4(SPAST):c.909C>T (p.Thr303=)
|
|
|
NM_014946.4(SPAST):c.910C>G (p.Pro304Ala)
|
|
|
NM_014946.4(SPAST):c.911C>G (p.Pro304Arg)
|
|
|
NM_014946.4(SPAST):c.911del (p.Pro304fs)
|
|
|
NM_014946.4(SPAST):c.913A>G (p.Thr305Ala)
|
|
|
NM_014946.4(SPAST):c.915A>G (p.Thr305=)
|
|
|
NM_014946.4(SPAST):c.916A>G (p.Thr306Ala)
|
|
|
NM_014946.4(SPAST):c.922A>C (p.Thr308Pro)
|
|
|
NM_014946.4(SPAST):c.923_927del (p.Thr308fs)
|
rs1678805683
|
|
NM_014946.4(SPAST):c.924dup (p.Arg309fs)
|
rs1678805865
|
|
NM_014946.4(SPAST):c.925del (p.Arg309fs)
|
rs863224515
|
|
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)
|
rs1678806430
|
|
NM_014946.4(SPAST):c.936dup (p.Asp313fs)
|
rs2148734097
|
|
NM_014946.4(SPAST):c.939_943del (p.Asp313fs)
|
|
|
NM_014946.4(SPAST):c.93dup (p.Ala32fs)
|
rs1676391139
|
|
NM_014946.4(SPAST):c.942dup (p.Lys315fs)
|
|
|
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys)
|
rs759832933
|
|
NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)
|
rs1678808584
|
|
NM_014946.4(SPAST):c.956dup (p.Asn319fs)
|
|
|
NM_014946.4(SPAST):c.962_974del (p.Asp321fs)
|
rs1553315223
|
|
NM_014946.4(SPAST):c.966C>A (p.Ser322Arg)
|
|
|
NM_014946.4(SPAST):c.966del (p.Ser322fs)
|
|
|
NM_014946.4(SPAST):c.970del (p.Ala325fs)
|
rs1678809494
|
|
NM_014946.4(SPAST):c.975dup (p.Asn326Ter)
|
rs1678809927
|
|
NM_014946.4(SPAST):c.977dup (p.Asn326fs)
|
rs1678810039
|
|
NM_014946.4(SPAST):c.97C>T (p.Pro33Ser)
|
|
|
NM_014946.4(SPAST):c.982dup (p.Ile328fs)
|
|
|
NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)
|
rs2148734189
|
|
NM_014946.4(SPAST):c.985A>G (p.Met329Val)
|
rs1314415557
|
|
NM_014946.4(SPAST):c.987G>A (p.Met329Ile)
|
rs1553315231
|
|
NM_014946.4(SPAST):c.99T>A (p.Pro33=)
|
rs1573027124
|
|
Single allele
|
|
|