ClinVar Miner

List of variants in gene SPAST studied for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1007
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

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