Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32133666_32137711dupCA10575837SPASTc.*906-2897_*1153+523dup
c.1246-2897_1493+523dup
c.1243-2897_1490+523dup
c.983-2897_1230+523dup
c.1147-2897_1394+523dup
c.1020-2897_1267+523dup
c.988-2897_1235+523dup
c.405-2897_560+523dup
c.826-2897_1073+523dup
c.1122-2897_1369+523dup
c.892-2897_1139+523dup
n.1983-2897_2230+523dup
c.696-2897_943+523dup
c.593-3443_672+523dup
c.1150-2897_1397+523dup
n.938-2897_1185+523dup
c.746-2897_993+523dup
 ClinVar
2g.32133667_32137711dupCA10575495SPASTc.*906-2896_*1153+523dup
c.1246-2896_1493+523dup
c.1243-2896_1490+523dup
c.983-2896_1230+523dup
c.1147-2896_1394+523dup
c.1020-2896_1267+523dup
c.988-2896_1235+523dup
c.405-2896_560+523dup
c.826-2896_1073+523dup
c.1122-2896_1369+523dup
c.892-2896_1139+523dup
n.1983-2896_2230+523dup
c.696-2896_943+523dup
c.593-3442_672+523dup
c.1150-2896_1397+523dup
n.938-2896_1185+523dup
c.746-2896_993+523dup
 ClinVar
2g.32136885_32136904delCA2573134501SPASTc.*990_*1009del (n.*990_*1009del)
c.1330_1349del (p.Asp444LysfsTer8)
c.1327_1346del (p.Asp443LysfsTer8)
c.1067_1086del
c.1231_1250del (p.Asp411LysfsTer8)
c.1104_1123del
c.1072_1091del (p.Asp358LysfsTer8)
c.481-224_481-205del
c.910_929del
c.1206_1225del
c.976_995del (p.Asp326LysfsTer8)
n.2067_2086del
c.780_799del
c.593-224_593-205del
c.976_995del
c.1234_1253del (p.Asp412LysfsTer8)
n.1022_1041del
c.830_849del
 dbSNP
2g.32136895delCA2586964755SPASTc.*1000del (n.*1000del)
c.1340del (p.Leu447CysfsTer15)
c.1337del (p.Leu446CysfsTer15)
c.1077del
c.1241del (p.Leu414CysfsTer15)
c.1114del
c.1082del (p.Leu361CysfsTer15)
c.481-214del
c.920del
c.1216del
c.986del (p.Leu329CysfsTer15)
n.2077del
c.790del
c.593-214del
c.986del
c.1244del (p.Leu415CysfsTer15)
n.1032del
c.840del
2g.32136894_32136895delCA1139656824SPASTc.*999_*1000del (n.*999_*1000del)
c.1339_1340del (p.Leu447ValfsTer2)
c.1336_1337del (p.Leu446ValfsTer2)
c.1076_1077del
c.1240_1241del (p.Leu414ValfsTer2)
c.1113_1114del
c.1081_1082del (p.Leu361ValfsTer2)
c.481-215_481-214del
c.919_920del
c.1215_1216del
c.985_986del (p.Leu329ValfsTer2)
n.2076_2077del
c.789_790del
c.593-215_593-214del
c.985_986del
c.1243_1244del (p.Leu415ValfsTer2)
n.1031_1032del
c.839_840del
 ClinVar dbSNP
2g.32136894T>ACA346502195SPASTc.*999T>A (n.*999T>A)
c.1339T>A (p.Leu447Met)
c.1336T>A (p.Leu446Met)
c.1076T>A
c.1240T>A (p.Leu414Met)
c.1113T>A
c.1081T>A (p.Leu361Met)
c.481-215T>A
c.919T>A
c.1215T>A
c.985T>A (p.Leu329Met)
n.2076T>A
c.789T>A
c.593-215T>A
c.985T>A
c.1243T>A (p.Leu415Met)
n.1031T>A
c.839T>A
2g.32136894T>CCA425448897SPASTc.*999T>C (n.*999T>C)
c.1339T>C (p.Leu447=)
c.1336T>C (p.Leu446=)
c.1076T>C
c.1240T>C (p.Leu414=)
c.1113T>C
c.1081T>C (p.Leu361=)
c.481-215T>C
c.919T>C
c.1215T>C
c.985T>C (p.Leu329=)
n.2076T>C
c.789T>C
c.593-215T>C
c.985T>C
c.1243T>C (p.Leu415=)
n.1031T>C
c.839T>C
2g.32136894T>GCA346502196SPASTc.*999T>G (n.*999T>G)
c.1339T>G (p.Leu447Val)
c.1336T>G (p.Leu446Val)
c.1076T>G
c.1240T>G (p.Leu414Val)
c.1113T>G
c.1081T>G (p.Leu361Val)
c.481-215T>G
c.919T>G
c.1215T>G
c.985T>G (p.Leu329Val)
n.2076T>G
c.789T>G
c.593-215T>G
c.985T>G
c.1243T>G (p.Leu415Val)
n.1031T>G
c.839T>G
 dbSNP
2g.32136894T=CA1242501568SPASTc.*999T= (n.*999T=)
c.1339T= (p.Leu447=)
c.1336T= (p.Leu446=)
c.1076T=
c.1240T= (p.Leu414=)
c.1113T=
c.1081T= (p.Leu361=)
c.481-215T=
c.919T=
c.1215T=
c.985T= (p.Leu329=)
n.2076T=
c.789T=
c.593-215T=
c.985T=
c.1243T= (p.Leu415=)
n.1031T=
c.839T=
2g.32136895T>ACA346502197SPASTc.*1000T>A (n.*1000T>A)
c.1340T>A (p.Leu447Ter)
c.1337T>A (p.Leu446Ter)
c.1077T>A
c.1241T>A (p.Leu414Ter)
c.1114T>A
c.1082T>A (p.Leu361Ter)
c.481-214T>A
c.920T>A
c.1216T>A
c.986T>A (p.Leu329Ter)
n.2077T>A
c.790T>A
c.593-214T>A
c.986T>A
c.1244T>A (p.Leu415Ter)
n.1032T>A
c.840T>A
2g.32136895T>CCA346502198SPASTc.*1000T>C (n.*1000T>C)
c.1340T>C (p.Leu447Ser)
c.1337T>C (p.Leu446Ser)
c.1077T>C
c.1241T>C (p.Leu414Ser)
c.1114T>C
c.1082T>C (p.Leu361Ser)
c.481-214T>C
c.920T>C
c.1216T>C
c.986T>C (p.Leu329Ser)
n.2077T>C
c.790T>C
c.593-214T>C
c.986T>C
c.1244T>C (p.Leu415Ser)
n.1032T>C
c.840T>C
 ClinVar dbSNP
2g.32136895T>GCA346502199SPASTc.*1000T>G (n.*1000T>G)
c.1340T>G (p.Leu447Trp)
c.1337T>G (p.Leu446Trp)
c.1077T>G
c.1241T>G (p.Leu414Trp)
c.1114T>G
c.1082T>G (p.Leu361Trp)
c.481-214T>G
c.920T>G
c.1216T>G
c.986T>G (p.Leu329Trp)
n.2077T>G
c.790T>G
c.593-214T>G
c.986T>G
c.1244T>G (p.Leu415Trp)
n.1032T>G
c.840T>G
2g.32136896G>ACA425448902SPASTc.*1001G>A (n.*1001G>A)
c.1341G>A (p.Leu447=)
c.1338G>A (p.Leu446=)
c.1078G>A
c.1242G>A (p.Leu414=)
c.1115G>A
c.1083G>A (p.Leu361=)
c.481-213G>A
c.921G>A
c.1217G>A
c.987G>A (p.Leu329=)
n.2078G>A
c.791G>A
c.593-213G>A
c.987G>A
c.1245G>A (p.Leu415=)
n.1033G>A
c.841G>A
2g.32136896G>CCA346502200SPASTc.*1001G>C (n.*1001G>C)
c.1341G>C (p.Leu447Phe)
c.1338G>C (p.Leu446Phe)
c.1078G>C
c.1242G>C (p.Leu414Phe)
c.1115G>C
c.1083G>C (p.Leu361Phe)
c.481-213G>C
c.921G>C
c.1217G>C
c.987G>C (p.Leu329Phe)
n.2078G>C
c.791G>C
c.593-213G>C
c.987G>C
c.1245G>C (p.Leu415Phe)
n.1033G>C
c.841G>C
2g.32136896G>TCA346502201SPASTc.*1001G>T (n.*1001G>T)
c.1341G>T (p.Leu447Phe)
c.1338G>T (p.Leu446Phe)
c.1078G>T
c.1242G>T (p.Leu414Phe)
c.1115G>T
c.1083G>T (p.Leu361Phe)
c.481-213G>T
c.921G>T
c.1217G>T
c.987G>T (p.Leu329Phe)
n.2078G>T
c.791G>T
c.593-213G>T
c.987G>T
c.1245G>T (p.Leu415Phe)
n.1033G>T
c.841G>T
2g.32136897T>ACA346502202SPASTc.*1002T>A (n.*1002T>A)
c.1342T>A (p.Cys448Ser)
c.1339T>A (p.Cys447Ser)
c.1079T>A
c.1243T>A (p.Cys415Ser)
c.1116T>A
c.1084T>A (p.Cys362Ser)
c.481-212T>A
c.922T>A
c.1218T>A
c.988T>A (p.Cys330Ser)
n.2079T>A
c.792T>A
c.593-212T>A
c.988T>A
c.1246T>A (p.Cys416Ser)
n.1034T>A
c.842T>A
2g.32136897T>CCA346502203SPASTc.*1002T>C (n.*1002T>C)
c.1342T>C (p.Cys448Arg)
c.1339T>C (p.Cys447Arg)
c.1079T>C
c.1243T>C (p.Cys415Arg)
c.1116T>C
c.1084T>C (p.Cys362Arg)
c.481-212T>C
c.922T>C
c.1218T>C
c.988T>C (p.Cys330Arg)
n.2079T>C
c.792T>C
c.593-212T>C
c.988T>C
c.1246T>C (p.Cys416Arg)
n.1034T>C
c.842T>C
2g.32136897T>GCA346502204SPASTc.*1002T>G (n.*1002T>G)
c.1342T>G (p.Cys448Gly)
c.1339T>G (p.Cys447Gly)
c.1079T>G
c.1243T>G (p.Cys415Gly)
c.1116T>G
c.1084T>G (p.Cys362Gly)
c.481-212T>G
c.922T>G
c.1218T>G
c.988T>G (p.Cys330Gly)
n.2079T>G
c.792T>G
c.593-212T>G
c.988T>G
c.1246T>G (p.Cys416Gly)
n.1034T>G
c.842T>G
2g.32136898G>ACA253548SPASTc.*1003G>A (n.*1003G>A)
c.1343G>A (p.Cys448Tyr)
c.1340G>A (p.Cys447Tyr)
c.1080G>A
c.1244G>A (p.Cys415Tyr)
c.1117G>A
c.1085G>A (p.Cys362Tyr)
c.481-211G>A
c.923G>A
c.1219G>A
c.989G>A (p.Cys330Tyr)
n.2080G>A
c.793G>A
c.593-211G>A
c.989G>A
c.1247G>A (p.Cys416Tyr)
n.1035G>A
c.843G>A
 ClinVar dbSNP
2g.32136898G>CCA346502206SPASTc.*1003G>C (n.*1003G>C)
c.1343G>C (p.Cys448Ser)
c.1340G>C (p.Cys447Ser)
c.1080G>C
c.1244G>C (p.Cys415Ser)
c.1117G>C
c.1085G>C (p.Cys362Ser)
c.481-211G>C
c.923G>C
c.1219G>C
c.989G>C (p.Cys330Ser)
n.2080G>C
c.793G>C
c.593-211G>C
c.989G>C
c.1247G>C (p.Cys416Ser)
n.1035G>C
c.843G>C
2g.32136898G=CA1242501571SPASTc.*1003G= (n.*1003G=)
c.1343G= (p.Cys448=)
c.1340G= (p.Cys447=)
c.1080G=
c.1244G= (p.Cys415=)
c.1117G=
c.1085G= (p.Cys362=)
c.481-211G=
c.923G=
c.1219G=
c.989G= (p.Cys330=)
n.2080G=
c.793G=
c.593-211G=
c.989G=
c.1247G= (p.Cys416=)
n.1035G=
c.843G=
2g.32136898G>TCA346502205SPASTc.*1003G>T (n.*1003G>T)
c.1343G>T (p.Cys448Phe)
c.1340G>T (p.Cys447Phe)
c.1080G>T
c.1244G>T (p.Cys415Phe)
c.1117G>T
c.1085G>T (p.Cys362Phe)
c.481-211G>T
c.923G>T
c.1219G>T
c.989G>T (p.Cys330Phe)
n.2080G>T
c.793G>T
c.593-211G>T
c.989G>T
c.1247G>T (p.Cys416Phe)
n.1035G>T
c.843G>T
2g.32136899T>ACA346502207SPASTc.*1004T>A (n.*1004T>A)
c.1344T>A (p.Cys448Ter)
c.1341T>A (p.Cys447Ter)
c.1081T>A
c.1245T>A (p.Cys415Ter)
c.1118T>A
c.1086T>A (p.Cys362Ter)
c.481-210T>A
c.924T>A
c.1220T>A
c.990T>A (p.Cys330Ter)
n.2081T>A
c.794T>A
c.593-210T>A
c.990T>A
c.1248T>A (p.Cys416Ter)
n.1036T>A
c.844T>A
 ClinVar dbSNP
2g.32136899T>CCA425448928SPASTc.*1004T>C (n.*1004T>C)
c.1344T>C (p.Cys448=)
c.1341T>C (p.Cys447=)
c.1081T>C
c.1245T>C (p.Cys415=)
c.1118T>C
c.1086T>C (p.Cys362=)
c.481-210T>C
c.924T>C
c.1220T>C
c.990T>C (p.Cys330=)
n.2081T>C
c.794T>C
c.593-210T>C
c.990T>C
c.1248T>C (p.Cys416=)
n.1036T>C
c.844T>C
2g.32136899T>GCA346502208SPASTc.*1004T>G (n.*1004T>G)
c.1344T>G (p.Cys448Trp)
c.1341T>G (p.Cys447Trp)
c.1081T>G
c.1245T>G (p.Cys415Trp)
c.1118T>G
c.1086T>G (p.Cys362Trp)
c.481-210T>G
c.924T>G
c.1220T>G
c.990T>G (p.Cys330Trp)
n.2081T>G
c.794T>G
c.593-210T>G
c.990T>G
c.1248T>G (p.Cys416Trp)
n.1036T>G
c.844T>G
2g.32136900G>ACA346502209SPASTc.*1005G>A (n.*1005G>A)
c.1345G>A (p.Glu449Lys)
c.1342G>A (p.Glu448Lys)
c.1082G>A
c.1246G>A (p.Glu416Lys)
c.1119G>A
c.1087G>A (p.Glu363Lys)
c.481-209G>A
c.925G>A
c.1221G>A
c.991G>A (p.Glu331Lys)
n.2082G>A
c.795G>A
c.593-209G>A
c.991G>A
c.1249G>A (p.Glu417Lys)
n.1037G>A
c.845G>A
2g.32136900G>CCA346502210SPASTc.*1005G>C (n.*1005G>C)
c.1345G>C (p.Glu449Gln)
c.1342G>C (p.Glu448Gln)
c.1082G>C
c.1246G>C (p.Glu416Gln)
c.1119G>C
c.1087G>C (p.Glu363Gln)
c.481-209G>C
c.925G>C
c.1221G>C
c.991G>C (p.Glu331Gln)
n.2082G>C
c.795G>C
c.593-209G>C
c.991G>C
c.1249G>C (p.Glu417Gln)
n.1037G>C
c.845G>C
2g.32136900G>TCA346502211SPASTc.*1005G>T (n.*1005G>T)
c.1345G>T (p.Glu449Ter)
c.1342G>T (p.Glu448Ter)
c.1082G>T
c.1246G>T (p.Glu416Ter)
c.1119G>T
c.1087G>T (p.Glu363Ter)
c.481-209G>T
c.925G>T
c.1221G>T
c.991G>T (p.Glu331Ter)
n.2082G>T
c.795G>T
c.593-209G>T
c.991G>T
c.1249G>T (p.Glu417Ter)
n.1037G>T
c.845G>T
 ClinVar dbSNP
2g.32136901A>CCA346502212SPASTc.*1006A>C (n.*1006A>C)
c.1346A>C (p.Glu449Ala)
c.1343A>C (p.Glu448Ala)
c.1083A>C
c.1247A>C (p.Glu416Ala)
c.1120A>C
c.1088A>C (p.Glu363Ala)
c.481-208A>C
c.926A>C
c.1222A>C
c.992A>C (p.Glu331Ala)
n.2083A>C
c.796A>C
c.593-208A>C
c.992A>C
c.1250A>C (p.Glu417Ala)
n.1038A>C
c.846A>C
2g.32136901A>GCA346502213SPASTc.*1006A>G (n.*1006A>G)
c.1346A>G (p.Glu449Gly)
c.1343A>G (p.Glu448Gly)
c.1083A>G
c.1247A>G (p.Glu416Gly)
c.1120A>G
c.1088A>G (p.Glu363Gly)
c.481-208A>G
c.926A>G
c.1222A>G
c.992A>G (p.Glu331Gly)
n.2083A>G
c.796A>G
c.593-208A>G
c.992A>G
c.1250A>G (p.Glu417Gly)
n.1038A>G
c.846A>G
2g.32136901A>TCA346502214SPASTc.*1006A>T (n.*1006A>T)
c.1346A>T (p.Glu449Val)
c.1343A>T (p.Glu448Val)
c.1083A>T
c.1247A>T (p.Glu416Val)
c.1120A>T
c.1088A>T (p.Glu363Val)
c.481-208A>T
c.926A>T
c.1222A>T
c.992A>T (p.Glu331Val)
n.2083A>T
c.796A>T
c.593-208A>T
c.992A>T
c.1250A>T (p.Glu417Val)
n.1038A>T
c.846A>T
2g.32136902A>CCA346502215SPASTc.*1007A>C (n.*1007A>C)
c.1347A>C (p.Glu449Asp)
c.1344A>C (p.Glu448Asp)
c.1084A>C
c.1248A>C (p.Glu416Asp)
c.1121A>C
c.1089A>C (p.Glu363Asp)
c.481-207A>C
c.927A>C
c.1223A>C
c.993A>C (p.Glu331Asp)
n.2084A>C
c.797A>C
c.593-207A>C
c.993A>C
c.1251A>C (p.Glu417Asp)
n.1039A>C
c.847A>C
2g.32136902A>GCA425448956SPASTc.*1007A>G (n.*1007A>G)
c.1347A>G (p.Glu449=)
c.1344A>G (p.Glu448=)
c.1084A>G
c.1248A>G (p.Glu416=)
c.1121A>G
c.1089A>G (p.Glu363=)
c.481-207A>G
c.927A>G
c.1223A>G
c.993A>G (p.Glu331=)
n.2084A>G
c.797A>G
c.593-207A>G
c.993A>G
c.1251A>G (p.Glu417=)
n.1039A>G
c.847A>G
 gnomAD v4
2g.32136902A>TCA346502216SPASTc.*1007A>T (n.*1007A>T)
c.1347A>T (p.Glu449Asp)
c.1344A>T (p.Glu448Asp)
c.1084A>T
c.1248A>T (p.Glu416Asp)
c.1121A>T
c.1089A>T (p.Glu363Asp)
c.481-207A>T
c.927A>T
c.1223A>T
c.993A>T (p.Glu331Asp)
n.2084A>T
c.797A>T
c.593-207A>T
c.993A>T
c.1251A>T (p.Glu417Asp)
n.1039A>T
c.847A>T
2g.32136906_32136908delCA2586964756SPASTc.*1011_*1013del (n.*1011_*1013del)
c.1351_1353del (p.Arg451del)
c.1348_1350del (p.Arg450del)
c.1088_1090del
c.1252_1254del (p.Arg418del)
c.1125_1127del
c.1093_1095del (p.Arg365del)
c.481-203_481-201del
c.931_933del
c.1227_1229del
c.997_999del (p.Arg333del)
n.2088_2090del
c.801_803del
c.593-203_593-201del
c.997_999del
c.1255_1257del (p.Arg419del)
n.1043_1045del
c.851_853del
2g.32136903A=CA1242501578SPASTc.*1008A= (n.*1008A=)
c.1348A= (p.Arg450=)
c.1345A= (p.Arg449=)
c.1085A=
c.1249A= (p.Arg417=)
c.1122A=
c.1090A= (p.Arg364=)
c.481-206A=
c.928A=
c.1224A=
c.994A= (p.Arg332=)
n.2085A=
c.798A=
c.593-206A=
c.994A=
c.1252A= (p.Arg418=)
n.1040A=
c.848A=
2g.32136903A>CCA425448961SPASTc.*1008A>C (n.*1008A>C)
c.1348A>C (p.Arg450=)
c.1345A>C (p.Arg449=)
c.1085A>C
c.1249A>C (p.Arg417=)
c.1122A>C
c.1090A>C (p.Arg364=)
c.481-206A>C
c.928A>C
c.1224A>C
c.994A>C (p.Arg332=)
n.2085A>C
c.798A>C
c.593-206A>C
c.994A>C
c.1252A>C (p.Arg418=)
n.1040A>C
c.848A>C
2g.32136903A>GCA346502217SPASTc.*1008A>G (n.*1008A>G)
c.1348A>G (p.Arg450Gly)
c.1345A>G (p.Arg449Gly)
c.1085A>G
c.1249A>G (p.Arg417Gly)
c.1122A>G
c.1090A>G (p.Arg364Gly)
c.481-206A>G
c.928A>G
c.1224A>G
c.994A>G (p.Arg332Gly)
n.2085A>G
c.798A>G
c.593-206A>G
c.994A>G
c.1252A>G (p.Arg418Gly)
n.1040A>G
c.848A>G
 ClinVar dbSNP
2g.32136903A>TCA346502218SPASTc.*1008A>T (n.*1008A>T)
c.1348A>T (p.Arg450Ter)
c.1345A>T (p.Arg449Ter)
c.1085A>T
c.1249A>T (p.Arg417Ter)
c.1122A>T
c.1090A>T (p.Arg364Ter)
c.481-206A>T
c.928A>T
c.1224A>T
c.994A>T (p.Arg332Ter)
n.2085A>T
c.798A>T
c.593-206A>T
c.994A>T
c.1252A>T (p.Arg418Ter)
n.1040A>T
c.848A>T
2g.32136908_32136912delCA2586964757SPASTc.*1013_*1017del (n.*1013_*1017del)
c.1353_1357del (p.Glu452GlyfsTer5)
c.1350_1354del (p.Glu451GlyfsTer5)
c.1090_1094del
c.1254_1258del (p.Glu419GlyfsTer5)
c.1127_1131del
c.1095_1099del (p.Glu366GlyfsTer5)
c.481-201_481-197del
c.933_937del
c.1229_1233del
c.999_1003del (p.Glu334GlyfsTer5)
n.2090_2094del
c.803_807del
c.593-201_593-197del
c.999_1003del
c.1257_1261del (p.Glu420GlyfsTer5)
n.1045_1049del
c.853_857del
2g.32136904G>ACA346502220SPASTc.*1009G>A (n.*1009G>A)
c.1349G>A (p.Arg450Lys)
c.1346G>A (p.Arg449Lys)
c.1086G>A
c.1250G>A (p.Arg417Lys)
c.1123G>A
c.1091G>A (p.Arg364Lys)
c.481-205G>A
c.929G>A
c.1225G>A
c.995G>A (p.Arg332Lys)
n.2086G>A
c.799G>A
c.593-205G>A
c.995G>A
c.1253G>A (p.Arg418Lys)
n.1041G>A
c.849G>A
 ClinVar dbSNP
2g.32136904G>CCA346502221SPASTc.*1009G>C (n.*1009G>C)
c.1349G>C (p.Arg450Thr)
c.1346G>C (p.Arg449Thr)
c.1086G>C
c.1250G>C (p.Arg417Thr)
c.1123G>C
c.1091G>C (p.Arg364Thr)
c.481-205G>C
c.929G>C
c.1225G>C
c.995G>C (p.Arg332Thr)
n.2086G>C
c.799G>C
c.593-205G>C
c.995G>C
c.1253G>C (p.Arg418Thr)
n.1041G>C
c.849G>C
2g.32136904G=CA1242501586SPASTc.*1009G= (n.*1009G=)
c.1349G= (p.Arg450=)
c.1346G= (p.Arg449=)
c.1086G=
c.1250G= (p.Arg417=)
c.1123G=
c.1091G= (p.Arg364=)
c.481-205G=
c.929G=
c.1225G=
c.995G= (p.Arg332=)
n.2086G=
c.799G=
c.593-205G=
c.995G=
c.1253G= (p.Arg418=)
n.1041G=
c.849G=
2g.32136904G>TCA346502219SPASTc.*1009G>T (n.*1009G>T)
c.1349G>T (p.Arg450Ile)
c.1346G>T (p.Arg449Ile)
c.1086G>T
c.1250G>T (p.Arg417Ile)
c.1123G>T
c.1091G>T (p.Arg364Ile)
c.481-205G>T
c.929G>T
c.1225G>T
c.995G>T (p.Arg332Ile)
n.2086G>T
c.799G>T
c.593-205G>T
c.995G>T
c.1253G>T (p.Arg418Ile)
n.1041G>T
c.849G>T
2g.32136905A=CA1242501589SPASTc.*1010A= (n.*1010A=)
c.1350A= (p.Arg450=)
c.1347A= (p.Arg449=)
c.1087A=
c.1251A= (p.Arg417=)
c.1124A=
c.1092A= (p.Arg364=)
c.481-204A=
c.930A=
c.1226A=
c.996A= (p.Arg332=)
n.2087A=
c.800A=
c.593-204A=
c.996A=
c.1254A= (p.Arg418=)
n.1042A=
c.850A=
2g.32136905A>CCA346502222SPASTc.*1010A>C (n.*1010A>C)
c.1350A>C (p.Arg450Ser)
c.1347A>C (p.Arg449Ser)
c.1087A>C
c.1251A>C (p.Arg417Ser)
c.1124A>C
c.1092A>C (p.Arg364Ser)
c.481-204A>C
c.930A>C
c.1226A>C
c.996A>C (p.Arg332Ser)
n.2087A>C
c.800A>C
c.593-204A>C
c.996A>C
c.1254A>C (p.Arg418Ser)
n.1042A>C
c.850A>C
2g.32136905A>GCA425448971SPASTc.*1010A>G (n.*1010A>G)
c.1350A>G (p.Arg450=)
c.1347A>G (p.Arg449=)
c.1087A>G
c.1251A>G (p.Arg417=)
c.1124A>G
c.1092A>G (p.Arg364=)
c.481-204A>G
c.930A>G
c.1226A>G
c.996A>G (p.Arg332=)
n.2087A>G
c.800A>G
c.593-204A>G
c.996A>G
c.1254A>G (p.Arg418=)
n.1042A>G
c.850A>G
2g.32136905A>TCA346502223SPASTc.*1010A>T (n.*1010A>T)
c.1350A>T (p.Arg450Ser)
c.1347A>T (p.Arg449Ser)
c.1087A>T
c.1251A>T (p.Arg417Ser)
c.1124A>T
c.1092A>T (p.Arg364Ser)
c.481-204A>T
c.930A>T
c.1226A>T
c.996A>T (p.Arg332Ser)
n.2087A>T
c.800A>T
c.593-204A>T
c.996A>T
c.1254A>T (p.Arg418Ser)
n.1042A>T
c.850A>T
 dbSNP gnomAD v4
2g.32136905_32136906delCA2499215907SPASTc.*1010_*1011del (n.*1010_*1011del)
c.1350_1351del (p.Glu452ArgfsTer6)
c.1347_1348del (p.Glu451ArgfsTer6)
c.1087_1088del
c.1251_1252del (p.Glu419ArgfsTer6)
c.1124_1125del
c.1092_1093del (p.Glu366ArgfsTer6)
c.481-204_481-203del
c.930_931del
c.1226_1227del
c.996_997del (p.Glu334ArgfsTer6)
n.2087_2088del
c.800_801del
c.593-204_593-203del
c.996_997del
c.1254_1255del (p.Glu420ArgfsTer6)
n.1042_1043del
c.850_851del
 ClinVar dbSNP
2g.32136906A>CCA425448973SPASTc.*1011A>C (n.*1011A>C)
c.1351A>C (p.Arg451=)
c.1348A>C (p.Arg450=)
c.1088A>C
c.1252A>C (p.Arg418=)
c.1125A>C
c.1093A>C (p.Arg365=)
c.481-203A>C
c.931A>C
c.1227A>C
c.997A>C (p.Arg333=)
n.2088A>C
c.801A>C
c.593-203A>C
c.997A>C
c.1255A>C (p.Arg419=)
n.1043A>C
c.851A>C
2g.32136906A>GCA346502224SPASTc.*1011A>G (n.*1011A>G)
c.1351A>G (p.Arg451Gly)
c.1348A>G (p.Arg450Gly)
c.1088A>G
c.1252A>G (p.Arg418Gly)
c.1125A>G
c.1093A>G (p.Arg365Gly)
c.481-203A>G
c.931A>G
c.1227A>G
c.997A>G (p.Arg333Gly)
n.2088A>G
c.801A>G
c.593-203A>G
c.997A>G
c.1255A>G (p.Arg419Gly)
n.1043A>G
c.851A>G
 ClinVar COSMIC
2g.32136906A>TCA346502225SPASTc.*1011A>T (n.*1011A>T)
c.1351A>T (p.Arg451Ter)
c.1348A>T (p.Arg450Ter)
c.1088A>T
c.1252A>T (p.Arg418Ter)
c.1125A>T
c.1093A>T (p.Arg365Ter)
c.481-203A>T
c.931A>T
c.1227A>T
c.997A>T (p.Arg333Ter)
n.2088A>T
c.801A>T
c.593-203A>T
c.997A>T
c.1255A>T (p.Arg419Ter)
n.1043A>T
c.851A>T
2g.32136907G>ACA346502226SPASTc.*1012G>A (n.*1012G>A)
c.1352G>A (p.Arg451Lys)
c.1349G>A (p.Arg450Lys)
c.1089G>A
c.1253G>A (p.Arg418Lys)
c.1126G>A
c.1094G>A (p.Arg365Lys)
c.481-202G>A
c.932G>A
c.1228G>A
c.998G>A (p.Arg333Lys)
n.2089G>A
c.802G>A
c.593-202G>A
c.998G>A
c.1256G>A (p.Arg419Lys)
n.1044G>A
c.852G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32136907G>CCA346502227SPASTc.*1012G>C (n.*1012G>C)
c.1352G>C (p.Arg451Thr)
c.1349G>C (p.Arg450Thr)
c.1089G>C
c.1253G>C (p.Arg418Thr)
c.1126G>C
c.1094G>C (p.Arg365Thr)
c.481-202G>C
c.932G>C
c.1228G>C
c.998G>C (p.Arg333Thr)
n.2089G>C
c.802G>C
c.593-202G>C
c.998G>C
c.1256G>C (p.Arg419Thr)
n.1044G>C
c.852G>C
2g.32136907G=CA1242501594SPASTc.*1012G= (n.*1012G=)
c.1352G= (p.Arg451=)
c.1349G= (p.Arg450=)
c.1089G=
c.1253G= (p.Arg418=)
c.1126G=
c.1094G= (p.Arg365=)
c.481-202G=
c.932G=
c.1228G=
c.998G= (p.Arg333=)
n.2089G=
c.802G=
c.593-202G=
c.998G=
c.1256G= (p.Arg419=)
n.1044G=
c.852G=
2g.32136907G>TCA346502228SPASTc.*1012G>T (n.*1012G>T)
c.1352G>T (p.Arg451Ile)
c.1349G>T (p.Arg450Ile)
c.1089G>T
c.1253G>T (p.Arg418Ile)
c.1126G>T
c.1094G>T (p.Arg365Ile)
c.481-202G>T
c.932G>T
c.1228G>T
c.998G>T (p.Arg333Ile)
n.2089G>T
c.802G>T
c.593-202G>T
c.998G>T
c.1256G>T (p.Arg419Ile)
n.1044G>T
c.852G>T
2g.32136908A>CCA346502229SPASTc.*1013A>C (n.*1013A>C)
c.1353A>C (p.Arg451Ser)
c.1350A>C (p.Arg450Ser)
c.1090A>C
c.1254A>C (p.Arg418Ser)
c.1127A>C
c.1095A>C (p.Arg365Ser)
c.481-201A>C
c.933A>C
c.1229A>C
c.999A>C (p.Arg333Ser)
n.2090A>C
c.803A>C
c.593-201A>C
c.999A>C
c.1257A>C (p.Arg419Ser)
n.1045A>C
c.853A>C
2g.32136908A>GCA425448981SPASTc.*1013A>G (n.*1013A>G)
c.1353A>G (p.Arg451=)
c.1350A>G (p.Arg450=)
c.1090A>G
c.1254A>G (p.Arg418=)
c.1127A>G
c.1095A>G (p.Arg365=)
c.481-201A>G
c.933A>G
c.1229A>G
c.999A>G (p.Arg333=)
n.2090A>G
c.803A>G
c.593-201A>G
c.999A>G
c.1257A>G (p.Arg419=)
n.1045A>G
c.853A>G
2g.32136908A>TCA346502230SPASTc.*1013A>T (n.*1013A>T)
c.1353A>T (p.Arg451Ser)
c.1350A>T (p.Arg450Ser)
c.1090A>T
c.1254A>T (p.Arg418Ser)
c.1127A>T
c.1095A>T (p.Arg365Ser)
c.481-201A>T
c.933A>T
c.1229A>T
c.999A>T (p.Arg333Ser)
n.2090A>T
c.803A>T
c.593-201A>T
c.999A>T
c.1257A>T (p.Arg419Ser)
n.1045A>T
c.853A>T
2g.32136910_32136912delCA2586964759SPASTc.*1015_*1017del (n.*1015_*1017del)
c.1355_1357del (p.Glu452del)
c.1352_1354del (p.Glu451del)
c.1092_1094del
c.1256_1258del (p.Glu419del)
c.1129_1131del
c.1097_1099del (p.Glu366del)
c.481-199_481-197del
c.935_937del
c.1231_1233del
c.1001_1003del (p.Glu334del)
n.2092_2094del
c.805_807del
c.593-199_593-197del
c.1001_1003del
c.1259_1261del (p.Glu420del)
n.1047_1049del
c.855_857del
2g.32136909G>ACA346502231SPASTc.*1014G>A (n.*1014G>A)
c.1354G>A (p.Glu452Lys)
c.1351G>A (p.Glu451Lys)
c.1091G>A
c.1255G>A (p.Glu419Lys)
c.1128G>A
c.1096G>A (p.Glu366Lys)
c.481-200G>A
c.934G>A
c.1230G>A
c.1000G>A (p.Glu334Lys)
n.2091G>A
c.804G>A
c.593-200G>A
c.1000G>A
c.1258G>A (p.Glu420Lys)
n.1046G>A
c.854G>A
2g.32136909G>CCA346502232SPASTc.*1014G>C (n.*1014G>C)
c.1354G>C (p.Glu452Gln)
c.1351G>C (p.Glu451Gln)
c.1091G>C
c.1255G>C (p.Glu419Gln)
c.1128G>C
c.1096G>C (p.Glu366Gln)
c.481-200G>C
c.934G>C
c.1230G>C
c.1000G>C (p.Glu334Gln)
n.2091G>C
c.804G>C
c.593-200G>C
c.1000G>C
c.1258G>C (p.Glu420Gln)
n.1046G>C
c.854G>C
 dbSNP
2g.32136909G>TCA346502233SPASTc.*1014G>T (n.*1014G>T)
c.1354G>T (p.Glu452Ter)
c.1351G>T (p.Glu451Ter)
c.1091G>T
c.1255G>T (p.Glu419Ter)
c.1128G>T
c.1096G>T (p.Glu366Ter)
c.481-200G>T
c.934G>T
c.1230G>T
c.1000G>T (p.Glu334Ter)
n.2091G>T
c.804G>T
c.593-200G>T
c.1000G>T
c.1258G>T (p.Glu420Ter)
n.1046G>T
c.854G>T
2g.32136910A>CCA346502235SPASTc.*1015A>C (n.*1015A>C)
c.1355A>C (p.Glu452Ala)
c.1352A>C (p.Glu451Ala)
c.1092A>C
c.1256A>C (p.Glu419Ala)
c.1129A>C
c.1097A>C (p.Glu366Ala)
c.481-199A>C
c.935A>C
c.1231A>C
c.1001A>C (p.Glu334Ala)
n.2092A>C
c.805A>C
c.593-199A>C
c.1001A>C
c.1259A>C (p.Glu420Ala)
n.1047A>C
c.855A>C
2g.32136910A>GCA346502236SPASTc.*1015A>G (n.*1015A>G)
c.1355A>G (p.Glu452Gly)
c.1352A>G (p.Glu451Gly)
c.1092A>G
c.1256A>G (p.Glu419Gly)
c.1129A>G
c.1097A>G (p.Glu366Gly)
c.481-199A>G
c.935A>G
c.1231A>G
c.1001A>G (p.Glu334Gly)
n.2092A>G
c.805A>G
c.593-199A>G
c.1001A>G
c.1259A>G (p.Glu420Gly)
n.1047A>G
c.855A>G
 gnomAD v4
2g.32136910A>TCA346502234SPASTc.*1015A>T (n.*1015A>T)
c.1355A>T (p.Glu452Val)
c.1352A>T (p.Glu451Val)
c.1092A>T
c.1256A>T (p.Glu419Val)
c.1129A>T
c.1097A>T (p.Glu366Val)
c.481-199A>T
c.935A>T
c.1231A>T
c.1001A>T (p.Glu334Val)
n.2092A>T
c.805A>T
c.593-199A>T
c.1001A>T
c.1259A>T (p.Glu420Val)
n.1047A>T
c.855A>T
2g.32136911delCA2586964761SPASTc.*1016del (n.*1016del)
c.1356del (p.Glu454SerfsTer8)
c.1353del (p.Glu453SerfsTer8)
c.1093del
c.1257del (p.Glu421SerfsTer8)
c.1130del
c.1098del (p.Glu368SerfsTer8)
c.481-198del
c.936del
c.1232del
c.1002del (p.Glu336SerfsTer8)
n.2093del
c.806del
c.593-198del
c.1002del
c.1260del (p.Glu422SerfsTer8)
n.1048del
c.856del
2g.32136911A=CA1242501597SPASTc.*1016A= (n.*1016A=)
c.1356A= (p.Glu452=)
c.1353A= (p.Glu451=)
c.1093A=
c.1257A= (p.Glu419=)
c.1130A=
c.1098A= (p.Glu366=)
c.481-198A=
c.936A=
c.1232A=
c.1002A= (p.Glu334=)
n.2093A=
c.806A=
c.593-198A=
c.1002A=
c.1260A= (p.Glu420=)
n.1048A=
c.856A=
2g.32136911A>CCA346502237SPASTc.*1016A>C (n.*1016A>C)
c.1356A>C (p.Glu452Asp)
c.1353A>C (p.Glu451Asp)
c.1093A>C
c.1257A>C (p.Glu419Asp)
c.1130A>C
c.1098A>C (p.Glu366Asp)
c.481-198A>C
c.936A>C
c.1232A>C
c.1002A>C (p.Glu334Asp)
n.2093A>C
c.806A>C
c.593-198A>C
c.1002A>C
c.1260A>C (p.Glu420Asp)
n.1048A>C
c.856A>C
2g.32136911A>GCA425448989SPASTc.*1016A>G (n.*1016A>G)
c.1356A>G (p.Glu452=)
c.1353A>G (p.Glu451=)
c.1093A>G
c.1257A>G (p.Glu419=)
c.1130A>G
c.1098A>G (p.Glu366=)
c.481-198A>G
c.936A>G
c.1232A>G
c.1002A>G (p.Glu334=)
n.2093A>G
c.806A>G
c.593-198A>G
c.1002A>G
c.1260A>G (p.Glu420=)
n.1048A>G
c.856A>G
2g.32136911A>TCA346502238SPASTc.*1016A>T (n.*1016A>T)
c.1356A>T (p.Glu452Asp)
c.1353A>T (p.Glu451Asp)
c.1093A>T
c.1257A>T (p.Glu419Asp)
c.1130A>T
c.1098A>T (p.Glu366Asp)
c.481-198A>T
c.936A>T
c.1232A>T
c.1002A>T (p.Glu334Asp)
n.2093A>T
c.806A>T
c.593-198A>T
c.1002A>T
c.1260A>T (p.Glu420Asp)
n.1048A>T
c.856A>T
 gnomAD v4
2g.32136912G>ACA346502239SPASTc.*1017G>A (n.*1017G>A)
c.1357G>A (p.Gly453Arg)
c.1354G>A (p.Gly452Arg)
c.1094G>A
c.1258G>A (p.Gly420Arg)
c.1131G>A
c.1099G>A (p.Gly367Arg)
c.481-197G>A
c.937G>A
c.1233G>A
c.1003G>A (p.Gly335Arg)
n.2094G>A
c.807G>A
c.593-197G>A
c.1003G>A
c.1261G>A (p.Gly421Arg)
n.1049G>A
c.857G>A
2g.32136912G>CCA346502240SPASTc.*1017G>C (n.*1017G>C)
c.1357G>C (p.Gly453Arg)
c.1354G>C (p.Gly452Arg)
c.1094G>C
c.1258G>C (p.Gly420Arg)
c.1131G>C
c.1099G>C (p.Gly367Arg)
c.481-197G>C
c.937G>C
c.1233G>C
c.1003G>C (p.Gly335Arg)
n.2094G>C
c.807G>C
c.593-197G>C
c.1003G>C
c.1261G>C (p.Gly421Arg)
n.1049G>C
c.857G>C
2g.32136912G>TCA346502241SPASTc.*1017G>T (n.*1017G>T)
c.1357G>T (p.Gly453Trp)
c.1354G>T (p.Gly452Trp)
c.1094G>T
c.1258G>T (p.Gly420Trp)
c.1131G>T
c.1099G>T (p.Gly367Trp)
c.481-197G>T
c.937G>T
c.1233G>T
c.1003G>T (p.Gly335Trp)
n.2094G>T
c.807G>T
c.593-197G>T
c.1003G>T
c.1261G>T (p.Gly421Trp)
n.1049G>T
c.857G>T
 COSMIC
2g.32136914_32136915dupCA767792717SPASTc.*1019_*1020dup (n.*1019_*1020dup)
c.1359_1360dup (p.Glu454GlyfsTer9)
c.1356_1357dup (p.Glu453GlyfsTer9)
c.1096_1097dup
c.1260_1261dup (p.Glu421GlyfsTer9)
c.1133_1134dup
c.1101_1102dup (p.Glu368GlyfsTer9)
c.481-195_481-194dup
c.939_940dup
c.1235_1236dup
c.1005_1006dup (p.Glu336GlyfsTer9)
n.2096_2097dup
c.809_810dup
c.593-195_593-194dup
c.1005_1006dup
c.1263_1264dup (p.Glu422GlyfsTer9)
n.1051_1052dup
c.859_860dup
 ClinVar dbSNP
2g.32136913_32136915dupCA2586964762SPASTc.*1018_*1020dup (n.*1018_*1020dup)
c.1358_1360dup (p.Gly453_Glu454insGly)
c.1355_1357dup (p.Gly452_Glu453insGly)
c.1095_1097dup
c.1259_1261dup (p.Gly420_Glu421insGly)
c.1132_1134dup
c.1100_1102dup (p.Gly367_Glu368insGly)
c.481-196_481-194dup
c.938_940dup
c.1234_1236dup
c.1004_1006dup (p.Gly335_Glu336insGly)
n.2095_2097dup
c.808_810dup
c.593-196_593-194dup
c.1004_1006dup
c.1262_1264dup (p.Gly421_Glu422insGly)
n.1050_1052dup
c.858_860dup
2g.32136913G>ACA346502244SPASTc.*1018G>A (n.*1018G>A)
c.1358G>A (p.Gly453Glu)
c.1355G>A (p.Gly452Glu)
c.1095G>A
c.1259G>A (p.Gly420Glu)
c.1132G>A
c.1100G>A (p.Gly367Glu)
c.481-196G>A
c.938G>A
c.1234G>A
c.1004G>A (p.Gly335Glu)
n.2095G>A
c.808G>A
c.593-196G>A
c.1004G>A
c.1262G>A (p.Gly421Glu)
n.1050G>A
c.858G>A
2g.32136913G>CCA346502243SPASTc.*1018G>C (n.*1018G>C)
c.1358G>C (p.Gly453Ala)
c.1355G>C (p.Gly452Ala)
c.1095G>C
c.1259G>C (p.Gly420Ala)
c.1132G>C
c.1100G>C (p.Gly367Ala)
c.481-196G>C
c.938G>C
c.1234G>C
c.1004G>C (p.Gly335Ala)
n.2095G>C
c.808G>C
c.593-196G>C
c.1004G>C
c.1262G>C (p.Gly421Ala)
n.1050G>C
c.858G>C
2g.32136913G>TCA346502242SPASTc.*1018G>T (n.*1018G>T)
c.1358G>T (p.Gly453Val)
c.1355G>T (p.Gly452Val)
c.1095G>T
c.1259G>T (p.Gly420Val)
c.1132G>T
c.1100G>T (p.Gly367Val)
c.481-196G>T
c.938G>T
c.1234G>T
c.1004G>T (p.Gly335Val)
n.2095G>T
c.808G>T
c.593-196G>T
c.1004G>T
c.1262G>T (p.Gly421Val)
n.1050G>T
c.858G>T
2g.32136914G>ACA425448998SPASTc.*1019G>A (n.*1019G>A)
c.1359G>A (p.Gly453=)
c.1356G>A (p.Gly452=)
c.1096G>A
c.1260G>A (p.Gly420=)
c.1133G>A
c.1101G>A (p.Gly367=)
c.481-195G>A
c.939G>A
c.1235G>A
c.1005G>A (p.Gly335=)
n.2096G>A
c.809G>A
c.593-195G>A
c.1005G>A
c.1263G>A (p.Gly421=)
n.1051G>A
c.859G>A
2g.32136914G>CCA425448999SPASTc.*1019G>C (n.*1019G>C)
c.1359G>C (p.Gly453=)
c.1356G>C (p.Gly452=)
c.1096G>C
c.1260G>C (p.Gly420=)
c.1133G>C
c.1101G>C (p.Gly367=)
c.481-195G>C
c.939G>C
c.1235G>C
c.1005G>C (p.Gly335=)
n.2096G>C
c.809G>C
c.593-195G>C
c.1005G>C
c.1263G>C (p.Gly421=)
n.1051G>C
c.859G>C
 dbSNP gnomAD v2 gnomAD v4
2g.32136914G=CA1242501606SPASTc.*1019G= (n.*1019G=)
c.1359G= (p.Gly453=)
c.1356G= (p.Gly452=)
c.1096G=
c.1260G= (p.Gly420=)
c.1133G=
c.1101G= (p.Gly367=)
c.481-195G=
c.939G=
c.1235G=
c.1005G= (p.Gly335=)
n.2096G=
c.809G=
c.593-195G=
c.1005G=
c.1263G= (p.Gly421=)
n.1051G=
c.859G=
2g.32136914G>TCA425449000SPASTc.*1019G>T (n.*1019G>T)
c.1359G>T (p.Gly453=)
c.1356G>T (p.Gly452=)
c.1096G>T
c.1260G>T (p.Gly420=)
c.1133G>T
c.1101G>T (p.Gly367=)
c.481-195G>T
c.939G>T
c.1235G>T
c.1005G>T (p.Gly335=)
n.2096G>T
c.809G>T
c.593-195G>T
c.1005G>T
c.1263G>T (p.Gly421=)
n.1051G>T
c.859G>T
2g.32136915G>ACA346502245SPASTc.*1020G>A (n.*1020G>A)
c.1360G>A (p.Glu454Lys)
c.1357G>A (p.Glu453Lys)
c.1097G>A
c.1261G>A (p.Glu421Lys)
c.1134G>A
c.1102G>A (p.Glu368Lys)
c.481-194G>A
c.940G>A
c.1236G>A
c.1006G>A (p.Glu336Lys)
n.2097G>A
c.810G>A
c.593-194G>A
c.1006G>A
c.1264G>A (p.Glu422Lys)
n.1052G>A
c.860G>A
 ClinVar dbSNP
2g.32136915G>CCA346502246SPASTc.*1020G>C (n.*1020G>C)
c.1360G>C (p.Glu454Gln)
c.1357G>C (p.Glu453Gln)
c.1097G>C
c.1261G>C (p.Glu421Gln)
c.1134G>C
c.1102G>C (p.Glu368Gln)
c.481-194G>C
c.940G>C
c.1236G>C
c.1006G>C (p.Glu336Gln)
n.2097G>C
c.810G>C
c.593-194G>C
c.1006G>C
c.1264G>C (p.Glu422Gln)
n.1052G>C
c.860G>C
2g.32136915G=CA1242501611SPASTc.*1020G= (n.*1020G=)
c.1360G= (p.Glu454=)
c.1357G= (p.Glu453=)
c.1097G=
c.1261G= (p.Glu421=)
c.1134G=
c.1102G= (p.Glu368=)
c.481-194G=
c.940G=
c.1236G=
c.1006G= (p.Glu336=)
n.2097G=
c.810G=
c.593-194G=
c.1006G=
c.1264G= (p.Glu422=)
n.1052G=
c.860G=
2g.32136915G>TCA346502247SPASTc.*1020G>T (n.*1020G>T)
c.1360G>T (p.Glu454Ter)
c.1357G>T (p.Glu453Ter)
c.1097G>T
c.1261G>T (p.Glu421Ter)
c.1134G>T
c.1102G>T (p.Glu368Ter)
c.481-194G>T
c.940G>T
c.1236G>T
c.1006G>T (p.Glu336Ter)
n.2097G>T
c.810G>T
c.593-194G>T
c.1006G>T
c.1264G>T (p.Glu422Ter)
n.1052G>T
c.860G>T
2g.32136916A>CCA346502248SPASTc.*1021A>C (n.*1021A>C)
c.1361A>C (p.Glu454Ala)
c.1358A>C (p.Glu453Ala)
c.1098A>C
c.1262A>C (p.Glu421Ala)
c.1135A>C
c.1103A>C (p.Glu368Ala)
c.481-193A>C
c.941A>C
c.1237A>C
c.1007A>C (p.Glu336Ala)
n.2098A>C
c.811A>C
c.593-193A>C
c.1007A>C
c.1265A>C (p.Glu422Ala)
n.1053A>C
c.861A>C
2g.32136916A>GCA346502249SPASTc.*1021A>G (n.*1021A>G)
c.1361A>G (p.Glu454Gly)
c.1358A>G (p.Glu453Gly)
c.1098A>G
c.1262A>G (p.Glu421Gly)
c.1135A>G
c.1103A>G (p.Glu368Gly)
c.481-193A>G
c.941A>G
c.1237A>G
c.1007A>G (p.Glu336Gly)
n.2098A>G
c.811A>G
c.593-193A>G
c.1007A>G
c.1265A>G (p.Glu422Gly)
n.1053A>G
c.861A>G
 ClinVar dbSNP
2g.32136916A>TCA346502250SPASTc.*1021A>T (n.*1021A>T)
c.1361A>T (p.Glu454Val)
c.1358A>T (p.Glu453Val)
c.1098A>T
c.1262A>T (p.Glu421Val)
c.1135A>T
c.1103A>T (p.Glu368Val)
c.481-193A>T
c.941A>T
c.1237A>T
c.1007A>T (p.Glu336Val)
n.2098A>T
c.811A>T
c.593-193A>T
c.1007A>T
c.1265A>T (p.Glu422Val)
n.1053A>T
c.861A>T
2g.32136916dupCA915943724SPASTc.*1021dup (n.*1021dup)
c.1361dup (p.His455AlafsTer4)
c.1358dup (p.His454AlafsTer4)
c.1098dup
c.1262dup (p.His422AlafsTer4)
c.1135dup
c.1103dup (p.His369AlafsTer4)
c.481-193dup
c.941dup
c.1237dup
c.1007dup (p.His337AlafsTer4)
n.2098dup
c.811dup
c.593-193dup
c.1007dup
c.1265dup (p.His423AlafsTer4)
n.1053dup
c.861dup
 ClinVar dbSNP
2g.32136916_32136918delinsGGGCA2586964763SPASTc.*1021_*1023delinsGGG (n.*1021_*1023delinsGGG)
c.1361_1363delinsGGG (p.Glu454_His455delinsGlyAsp)
c.1358_1360delinsGGG (p.Glu453_His454delinsGlyAsp)
c.1098_1100delinsGGG
c.1262_1264delinsGGG (p.Glu421_His422delinsGlyAsp)
c.1135_1137delinsGGG
c.1103_1105delinsGGG (p.Glu368_His369delinsGlyAsp)
c.481-193_481-191delinsGGG
c.941_943delinsGGG
c.1237_1239delinsGGG
c.1007_1009delinsGGG (p.Glu336_His337delinsGlyAsp)
n.2098_2100delinsGGG
c.811_813delinsGGG
c.593-193_593-191delinsGGG
c.1007_1009delinsGGG
c.1265_1267delinsGGG (p.Glu422_His423delinsGlyAsp)
n.1053_1055delinsGGG
c.861_863delinsGGG
2g.32136917G>ACA1600876SPASTc.*1022G>A (n.*1022G>A)
c.1362G>A (p.Glu454=)
c.1359G>A (p.Glu453=)
c.1099G>A
c.1263G>A (p.Glu421=)
c.1136G>A
c.1104G>A (p.Glu368=)
c.481-192G>A
c.942G>A
c.1238G>A
c.1008G>A (p.Glu336=)
n.2099G>A
c.812G>A
c.593-192G>A
c.1008G>A
c.1266G>A (p.Glu422=)
n.1054G>A
c.862G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136917G>CCA346502252SPASTc.*1022G>C (n.*1022G>C)
c.1362G>C (p.Glu454Asp)
c.1359G>C (p.Glu453Asp)
c.1099G>C
c.1263G>C (p.Glu421Asp)
c.1136G>C
c.1104G>C (p.Glu368Asp)
c.481-192G>C
c.942G>C
c.1238G>C
c.1008G>C (p.Glu336Asp)
n.2099G>C
c.812G>C
c.593-192G>C
c.1008G>C
c.1266G>C (p.Glu422Asp)
n.1054G>C
c.862G>C
2g.32136917G=CA1242501623SPASTc.*1022G= (n.*1022G=)
c.1362G= (p.Glu454=)
c.1359G= (p.Glu453=)
c.1099G=
c.1263G= (p.Glu421=)
c.1136G=
c.1104G= (p.Glu368=)
c.481-192G=
c.942G=
c.1238G=
c.1008G= (p.Glu336=)
n.2099G=
c.812G=
c.593-192G=
c.1008G=
c.1266G= (p.Glu422=)
n.1054G=
c.862G=
2g.32136917G>TCA346502251SPASTc.*1022G>T (n.*1022G>T)
c.1362G>T (p.Glu454Asp)
c.1359G>T (p.Glu453Asp)
c.1099G>T
c.1263G>T (p.Glu421Asp)
c.1136G>T
c.1104G>T (p.Glu368Asp)
c.481-192G>T
c.942G>T
c.1238G>T
c.1008G>T (p.Glu336Asp)
n.2099G>T
c.812G>T
c.593-192G>T
c.1008G>T
c.1266G>T (p.Glu422Asp)
n.1054G>T
c.862G>T
 COSMIC
2g.32136918C>ACA346502253SPASTc.*1023C>A (n.*1023C>A)
c.1363C>A (p.His455Asn)
c.1360C>A (p.His454Asn)
c.1100C>A
c.1264C>A (p.His422Asn)
c.1137C>A
c.1105C>A (p.His369Asn)
c.481-191C>A
c.943C>A
c.1239C>A
c.1009C>A (p.His337Asn)
n.2100C>A
c.813C>A
c.593-191C>A
c.1009C>A
c.1267C>A (p.His423Asn)
n.1055C>A
c.863C>A
2g.32136918C=CA1242501630SPASTc.*1023C= (n.*1023C=)
c.1363C= (p.His455=)
c.1360C= (p.His454=)
c.1100C=
c.1264C= (p.His422=)
c.1137C=
c.1105C= (p.His369=)
c.481-191C=
c.943C=
c.1239C=
c.1009C= (p.His337=)
n.2100C=
c.813C=
c.593-191C=
c.1009C=
c.1267C= (p.His423=)
n.1055C=
c.863C=
2g.32136918C>GCA338018SPASTc.*1023C>G (n.*1023C>G)
c.1363C>G (p.His455Asp)
c.1360C>G (p.His454Asp)
c.1100C>G
c.1264C>G (p.His422Asp)
c.1137C>G
c.1105C>G (p.His369Asp)
c.481-191C>G
c.943C>G
c.1239C>G
c.1009C>G (p.His337Asp)
n.2100C>G
c.813C>G
c.593-191C>G
c.1009C>G
c.1267C>G (p.His423Asp)
n.1055C>G
c.863C>G
 ClinVar dbSNP
2g.32136918C>TCA346502254SPASTc.*1023C>T (n.*1023C>T)
c.1363C>T (p.His455Tyr)
c.1360C>T (p.His454Tyr)
c.1100C>T
c.1264C>T (p.His422Tyr)
c.1137C>T
c.1105C>T (p.His369Tyr)
c.481-191C>T
c.943C>T
c.1239C>T
c.1009C>T (p.His337Tyr)
n.2100C>T
c.813C>T
c.593-191C>T
c.1009C>T
c.1267C>T (p.His423Tyr)
n.1055C>T
c.863C>T
 ClinVar dbSNP
2g.32136919A>CCA346502255SPASTc.*1024A>C (n.*1024A>C)
c.1364A>C (p.His455Pro)
c.1361A>C (p.His454Pro)
c.1101A>C
c.1265A>C (p.His422Pro)
c.1138A>C
c.1106A>C (p.His369Pro)
c.481-190A>C
c.944A>C
c.1240A>C
c.1010A>C (p.His337Pro)
n.2101A>C
c.814A>C
c.593-190A>C
c.1010A>C
c.1268A>C (p.His423Pro)
n.1056A>C
c.864A>C
2g.32136919A>GCA346502257SPASTc.*1024A>G (n.*1024A>G)
c.1364A>G (p.His455Arg)
c.1361A>G (p.His454Arg)
c.1101A>G
c.1265A>G (p.His422Arg)
c.1138A>G
c.1106A>G (p.His369Arg)
c.481-190A>G
c.944A>G
c.1240A>G
c.1010A>G (p.His337Arg)
n.2101A>G
c.814A>G
c.593-190A>G
c.1010A>G
c.1268A>G (p.His423Arg)
n.1056A>G
c.864A>G
2g.32136919A>TCA346502256SPASTc.*1024A>T (n.*1024A>T)
c.1364A>T (p.His455Leu)
c.1361A>T (p.His454Leu)
c.1101A>T
c.1265A>T (p.His422Leu)
c.1138A>T
c.1106A>T (p.His369Leu)
c.481-190A>T
c.944A>T
c.1240A>T
c.1010A>T (p.His337Leu)
n.2101A>T
c.814A>T
c.593-190A>T
c.1010A>T
c.1268A>T (p.His423Leu)
n.1056A>T
c.864A>T
2g.32136920C>ACA346502258SPASTc.*1025C>A (n.*1025C>A)
c.1365C>A (p.His455Gln)
c.1362C>A (p.His454Gln)
c.1102C>A
c.1266C>A (p.His422Gln)
c.1139C>A
c.1107C>A (p.His369Gln)
c.481-189C>A
c.945C>A
c.1241C>A
c.1011C>A (p.His337Gln)
n.2102C>A
c.815C>A
c.593-189C>A
c.1011C>A
c.1269C>A (p.His423Gln)
n.1057C>A
c.865C>A
2g.32136920C=CA1242501637SPASTc.*1025C= (n.*1025C=)
c.1365C= (p.His455=)
c.1362C= (p.His454=)
c.1102C=
c.1266C= (p.His422=)
c.1139C=
c.1107C= (p.His369=)
c.481-189C=
c.945C=
c.1241C=
c.1011C= (p.His337=)
n.2102C=
c.815C=
c.593-189C=
c.1011C=
c.1269C= (p.His423=)
n.1057C=
c.865C=
2g.32136920C>GCA346502259SPASTc.*1025C>G (n.*1025C>G)
c.1365C>G (p.His455Gln)
c.1362C>G (p.His454Gln)
c.1102C>G
c.1266C>G (p.His422Gln)
c.1139C>G
c.1107C>G (p.His369Gln)
c.481-189C>G
c.945C>G
c.1241C>G
c.1011C>G (p.His337Gln)
n.2102C>G
c.815C>G
c.593-189C>G
c.1011C>G
c.1269C>G (p.His423Gln)
n.1057C>G
c.865C>G
2g.32136920C>TCA1600877SPASTc.*1025C>T (n.*1025C>T)
c.1365C>T (p.His455=)
c.1362C>T (p.His454=)
c.1102C>T
c.1266C>T (p.His422=)
c.1139C>T
c.1107C>T (p.His369=)
c.481-189C>T
c.945C>T
c.1241C>T
c.1011C>T (p.His337=)
n.2102C>T
c.815C>T
c.593-189C>T
c.1011C>T
c.1269C>T (p.His423=)
n.1057C>T
c.865C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.32136921G>ACA346502260SPASTc.*1026G>A (n.*1026G>A)
c.1366G>A (p.Asp456Asn)
c.1363G>A (p.Asp455Asn)
c.1103G>A
c.1267G>A (p.Asp423Asn)
c.1140G>A
c.1108G>A (p.Asp370Asn)
c.481-188G>A
c.946G>A
c.1242G>A
c.1012G>A (p.Asp338Asn)
n.2103G>A
c.816G>A
c.593-188G>A
c.1012G>A
c.1270G>A (p.Asp424Asn)
n.1058G>A
c.866G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32136921G>CCA346502261SPASTc.*1026G>C (n.*1026G>C)
c.1366G>C (p.Asp456His)
c.1363G>C (p.Asp455His)
c.1103G>C
c.1267G>C (p.Asp423His)
c.1140G>C
c.1108G>C (p.Asp370His)
c.481-188G>C
c.946G>C
c.1242G>C
c.1012G>C (p.Asp338His)
n.2103G>C
c.816G>C
c.593-188G>C
c.1012G>C
c.1270G>C (p.Asp424His)
n.1058G>C
c.866G>C
2g.32136921G=CA1242501641SPASTc.*1026G= (n.*1026G=)
c.1366G= (p.Asp456=)
c.1363G= (p.Asp455=)
c.1103G=
c.1267G= (p.Asp423=)
c.1140G=
c.1108G= (p.Asp370=)
c.481-188G=
c.946G=
c.1242G=
c.1012G= (p.Asp338=)
n.2103G=
c.816G=
c.593-188G=
c.1012G=
c.1270G= (p.Asp424=)
n.1058G=
c.866G=
2g.32136921G>TCA346502262SPASTc.*1026G>T (n.*1026G>T)
c.1366G>T (p.Asp456Tyr)
c.1363G>T (p.Asp455Tyr)
c.1103G>T
c.1267G>T (p.Asp423Tyr)
c.1140G>T
c.1108G>T (p.Asp370Tyr)
c.481-188G>T
c.946G>T
c.1242G>T
c.1012G>T (p.Asp338Tyr)
n.2103G>T
c.816G>T
c.593-188G>T
c.1012G>T
c.1270G>T (p.Asp424Tyr)
n.1058G>T
c.866G>T
2g.32136921_32136924dupCA2580066408SPASTc.*1026_*1029dup (n.*1026_*1029dup)
c.1366_1369dup (p.Ala457GlyfsTer3)
c.1363_1366dup (p.Ala456GlyfsTer3)
c.1103_1106dup
c.1267_1270dup (p.Ala424GlyfsTer3)
c.1140_1143dup
c.1108_1111dup (p.Ala371GlyfsTer3)
c.481-188_481-185dup
c.946_949dup
c.1242_1245dup
c.1012_1015dup (p.Ala339GlyfsTer3)
n.2103_2106dup
c.816_819dup
c.593-188_593-185dup
c.1012_1015dup
c.1270_1273dup (p.Ala425GlyfsTer3)
n.1058_1061dup
c.866_869dup
 ClinVar
2g.32136922A=CA1242501644SPASTc.*1027A= (n.*1027A=)
c.1367A= (p.Asp456=)
c.1364A= (p.Asp455=)
c.1104A=
c.1268A= (p.Asp423=)
c.1141A=
c.1109A= (p.Asp370=)
c.481-187A=
c.947A=
c.1243A=
c.1013A= (p.Asp338=)
n.2104A=
c.817A=
c.593-187A=
c.1013A=
c.1271A= (p.Asp424=)
n.1059A=
c.867A=
2g.32136922A>CCA346502263SPASTc.*1027A>C (n.*1027A>C)
c.1367A>C (p.Asp456Ala)
c.1364A>C (p.Asp455Ala)
c.1104A>C
c.1268A>C (p.Asp423Ala)
c.1141A>C
c.1109A>C (p.Asp370Ala)
c.481-187A>C
c.947A>C
c.1243A>C
c.1013A>C (p.Asp338Ala)
n.2104A>C
c.817A>C
c.593-187A>C
c.1013A>C
c.1271A>C (p.Asp424Ala)
n.1059A>C
c.867A>C
2g.32136922A>GCA346502264SPASTc.*1027A>G (n.*1027A>G)
c.1367A>G (p.Asp456Gly)
c.1364A>G (p.Asp455Gly)
c.1104A>G
c.1268A>G (p.Asp423Gly)
c.1141A>G
c.1109A>G (p.Asp370Gly)
c.481-187A>G
c.947A>G
c.1243A>G
c.1013A>G (p.Asp338Gly)
n.2104A>G
c.817A>G
c.593-187A>G
c.1013A>G
c.1271A>G (p.Asp424Gly)
n.1059A>G
c.867A>G
2g.32136922A>TCA346502265SPASTc.*1027A>T (n.*1027A>T)
c.1367A>T (p.Asp456Val)
c.1364A>T (p.Asp455Val)
c.1104A>T
c.1268A>T (p.Asp423Val)
c.1141A>T
c.1109A>T (p.Asp370Val)
c.481-187A>T
c.947A>T
c.1243A>T
c.1013A>T (p.Asp338Val)
n.2104A>T
c.817A>T
c.593-187A>T
c.1013A>T
c.1271A>T (p.Asp424Val)
n.1059A>T
c.867A>T
2g.32136923T>ACA346502266SPASTc.*1028T>A (n.*1028T>A)
c.1368T>A (p.Asp456Glu)
c.1365T>A (p.Asp455Glu)
c.1105T>A
c.1269T>A (p.Asp423Glu)
c.1142T>A
c.1110T>A (p.Asp370Glu)
c.481-186T>A
c.948T>A
c.1244T>A
c.1014T>A (p.Asp338Glu)
n.2105T>A
c.818T>A
c.593-186T>A
c.1014T>A
c.1272T>A (p.Asp424Glu)
n.1060T>A
c.868T>A
2g.32136923T>CCA425449012SPASTc.*1028T>C (n.*1028T>C)
c.1368T>C (p.Asp456=)
c.1365T>C (p.Asp455=)
c.1105T>C
c.1269T>C (p.Asp423=)
c.1142T>C
c.1110T>C (p.Asp370=)
c.481-186T>C
c.948T>C
c.1244T>C
c.1014T>C (p.Asp338=)
n.2105T>C
c.818T>C
c.593-186T>C
c.1014T>C
c.1272T>C (p.Asp424=)
n.1060T>C
c.868T>C
2g.32136923T>GCA346502267SPASTc.*1028T>G (n.*1028T>G)
c.1368T>G (p.Asp456Glu)
c.1365T>G (p.Asp455Glu)
c.1105T>G
c.1269T>G (p.Asp423Glu)
c.1142T>G
c.1110T>G (p.Asp370Glu)
c.481-186T>G
c.948T>G
c.1244T>G
c.1014T>G (p.Asp338Glu)
n.2105T>G
c.818T>G
c.593-186T>G
c.1014T>G
c.1272T>G (p.Asp424Glu)
n.1060T>G
c.868T>G
2g.32136923dupCA915943725SPASTc.*1028dup (n.*1028dup)
c.1368dup (p.Ala457CysfsTer2)
c.1365dup (p.Ala456CysfsTer2)
c.1105dup
c.1269dup (p.Ala424CysfsTer2)
c.1142dup
c.1110dup (p.Ala371CysfsTer2)
c.481-186dup
c.948dup
c.1244dup
c.1014dup (p.Ala339CysfsTer2)
n.2105dup
c.818dup
c.593-186dup
c.1014dup
c.1272dup (p.Ala425CysfsTer2)
n.1060dup
c.868dup
 ClinVar dbSNP
2g.32136924G>ACA346502268SPASTc.*1029G>A (n.*1029G>A)
c.1369G>A (p.Ala457Thr)
c.1366G>A (p.Ala456Thr)
c.1106G>A
c.1270G>A (p.Ala424Thr)
c.1143G>A
c.1111G>A (p.Ala371Thr)
c.481-185G>A
c.949G>A
c.1245G>A
c.1015G>A (p.Ala339Thr)
n.2106G>A
c.819G>A
c.593-185G>A
c.1015G>A
c.1273G>A (p.Ala425Thr)
n.1061G>A
c.869G>A
2g.32136924G>CCA346502269SPASTc.*1029G>C (n.*1029G>C)
c.1369G>C (p.Ala457Pro)
c.1366G>C (p.Ala456Pro)
c.1106G>C
c.1270G>C (p.Ala424Pro)
c.1143G>C
c.1111G>C (p.Ala371Pro)
c.481-185G>C
c.949G>C
c.1245G>C
c.1015G>C (p.Ala339Pro)
n.2106G>C
c.819G>C
c.593-185G>C
c.1015G>C
c.1273G>C (p.Ala425Pro)
n.1061G>C
c.869G>C
2g.32136924G>TCA346502270SPASTc.*1029G>T (n.*1029G>T)
c.1369G>T (p.Ala457Ser)
c.1366G>T (p.Ala456Ser)
c.1106G>T
c.1270G>T (p.Ala424Ser)
c.1143G>T
c.1111G>T (p.Ala371Ser)
c.481-185G>T
c.949G>T
c.1245G>T
c.1015G>T (p.Ala339Ser)
n.2106G>T
c.819G>T
c.593-185G>T
c.1015G>T
c.1273G>T (p.Ala425Ser)
n.1061G>T
c.869G>T
2g.32136924_32136925insGATCCA2586964764SPASTc.*1029_*1030insGATC (n.*1029_*1030insGATC)
c.1369_1370insGATC (p.Ala457GlyfsTer3)
c.1366_1367insGATC (p.Ala456GlyfsTer3)
c.1106_1107insGATC
c.1270_1271insGATC (p.Ala424GlyfsTer3)
c.1143_1144insGATC
c.1111_1112insGATC (p.Ala371GlyfsTer3)
c.481-185_481-184insGATC
c.949_950insGATC
c.1245_1246insGATC
c.1015_1016insGATC (p.Ala339GlyfsTer3)
n.2106_2107insGATC
c.819_820insGATC
c.593-185_593-184insGATC
c.1015_1016insGATC
c.1273_1274insGATC (p.Ala425GlyfsTer3)
n.1061_1062insGATC
c.869_870insGATC
2g.32136925C>ACA346502273SPASTc.*1030C>A (n.*1030C>A)
c.1370C>A (p.Ala457Asp)
c.1367C>A (p.Ala456Asp)
c.1107C>A
c.1271C>A (p.Ala424Asp)
c.1144C>A
c.1112C>A (p.Ala371Asp)
c.481-184C>A
c.950C>A
c.1246C>A
c.1016C>A (p.Ala339Asp)
n.2107C>A
c.820C>A
c.593-184C>A
c.1016C>A
c.1274C>A (p.Ala425Asp)
n.1062C>A
c.870C>A
2g.32136925C>GCA346502271SPASTc.*1030C>G (n.*1030C>G)
c.1370C>G (p.Ala457Gly)
c.1367C>G (p.Ala456Gly)
c.1107C>G
c.1271C>G (p.Ala424Gly)
c.1144C>G
c.1112C>G (p.Ala371Gly)
c.481-184C>G
c.950C>G
c.1246C>G
c.1016C>G (p.Ala339Gly)
n.2107C>G
c.820C>G
c.593-184C>G
c.1016C>G
c.1274C>G (p.Ala425Gly)
n.1062C>G
c.870C>G
2g.32136925C>TCA346502272SPASTc.*1030C>T (n.*1030C>T)
c.1370C>T (p.Ala457Val)
c.1367C>T (p.Ala456Val)
c.1107C>T
c.1271C>T (p.Ala424Val)
c.1144C>T
c.1112C>T (p.Ala371Val)
c.481-184C>T
c.950C>T
c.1246C>T
c.1016C>T (p.Ala339Val)
n.2107C>T
c.820C>T
c.593-184C>T
c.1016C>T
c.1274C>T (p.Ala425Val)
n.1062C>T
c.870C>T
 COSMIC
2g.32136926T>ACA425449018SPASTc.*1031T>A (n.*1031T>A)
c.1371T>A (p.Ala457=)
c.1368T>A (p.Ala456=)
c.1108T>A
c.1272T>A (p.Ala424=)
c.1145T>A
c.1113T>A (p.Ala371=)
c.481-183T>A
c.951T>A
c.1247T>A
c.1017T>A (p.Ala339=)
n.2108T>A
c.821T>A
c.593-183T>A
c.1017T>A
c.1275T>A (p.Ala425=)
n.1063T>A
c.871T>A
2g.32136926T>CCA425449021SPASTc.*1031T>C (n.*1031T>C)
c.1371T>C (p.Ala457=)
c.1368T>C (p.Ala456=)
c.1108T>C
c.1272T>C (p.Ala424=)
c.1145T>C
c.1113T>C (p.Ala371=)
c.481-183T>C
c.951T>C
c.1247T>C
c.1017T>C (p.Ala339=)
n.2108T>C
c.821T>C
c.593-183T>C
c.1017T>C
c.1275T>C (p.Ala425=)
n.1063T>C
c.871T>C
2g.32136926T>GCA425449019SPASTc.*1031T>G (n.*1031T>G)
c.1371T>G (p.Ala457=)
c.1368T>G (p.Ala456=)
c.1108T>G
c.1272T>G (p.Ala424=)
c.1145T>G
c.1113T>G (p.Ala371=)
c.481-183T>G
c.951T>G
c.1247T>G
c.1017T>G (p.Ala339=)
n.2108T>G
c.821T>G
c.593-183T>G
c.1017T>G
c.1275T>G (p.Ala425=)
n.1063T>G
c.871T>G
2g.32136927A>CCA346502274SPASTc.*1032A>C (n.*1032A>C)
c.1372A>C (p.Ser458Arg)
c.1369A>C (p.Ser457Arg)
c.1109A>C
c.1273A>C (p.Ser425Arg)
c.1146A>C
c.1114A>C (p.Ser372Arg)
c.481-182A>C
c.952A>C
c.1248A>C
c.1018A>C (p.Ser340Arg)
n.2109A>C
c.822A>C
c.593-182A>C
c.1018A>C
c.1276A>C (p.Ser426Arg)
n.1064A>C
c.872A>C
 ClinVar
2g.32136927A>GCA346502275SPASTc.*1032A>G (n.*1032A>G)
c.1372A>G (p.Ser458Gly)
c.1369A>G (p.Ser457Gly)
c.1109A>G
c.1273A>G (p.Ser425Gly)
c.1146A>G
c.1114A>G (p.Ser372Gly)
c.481-182A>G
c.952A>G
c.1248A>G
c.1018A>G (p.Ser340Gly)
n.2109A>G
c.822A>G
c.593-182A>G
c.1018A>G
c.1276A>G (p.Ser426Gly)
n.1064A>G
c.872A>G
2g.32136927A>TCA346502276SPASTc.*1032A>T (n.*1032A>T)
c.1372A>T (p.Ser458Cys)
c.1369A>T (p.Ser457Cys)
c.1109A>T
c.1273A>T (p.Ser425Cys)
c.1146A>T
c.1114A>T (p.Ser372Cys)
c.481-182A>T
c.952A>T
c.1248A>T
c.1018A>T (p.Ser340Cys)
n.2109A>T
c.822A>T
c.593-182A>T
c.1018A>T
c.1276A>T (p.Ser426Cys)
n.1064A>T
c.872A>T
2g.32136928G>ACA346502277SPASTc.*1033G>A (n.*1033G>A)
c.1373G>A (p.Ser458Asn)
c.1370G>A (p.Ser457Asn)
c.1110G>A
c.1274G>A (p.Ser425Asn)
c.1147G>A
c.1115G>A (p.Ser372Asn)
c.481-181G>A
c.953G>A
c.1249G>A
c.1019G>A (p.Ser340Asn)
n.2110G>A
c.823G>A
c.593-181G>A
c.1019G>A
c.1277G>A (p.Ser426Asn)
n.1065G>A
c.873G>A
2g.32136928G>CCA44749869SPASTc.*1033G>C (n.*1033G>C)
c.1373G>C (p.Ser458Thr)
c.1370G>C (p.Ser457Thr)
c.1110G>C
c.1274G>C (p.Ser425Thr)
c.1147G>C
c.1115G>C (p.Ser372Thr)
c.481-181G>C
c.953G>C
c.1249G>C
c.1019G>C (p.Ser340Thr)
n.2110G>C
c.823G>C
c.593-181G>C
c.1019G>C
c.1277G>C (p.Ser426Thr)
n.1065G>C
c.873G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32136928G=CA1242501656SPASTc.*1033G= (n.*1033G=)
c.1373G= (p.Ser458=)
c.1370G= (p.Ser457=)
c.1110G=
c.1274G= (p.Ser425=)
c.1147G=
c.1115G= (p.Ser372=)
c.481-181G=
c.953G=
c.1249G=
c.1019G= (p.Ser340=)
n.2110G=
c.823G=
c.593-181G=
c.1019G=
c.1277G= (p.Ser426=)
n.1065G=
c.873G=
2g.32136928G>TCA346502278SPASTc.*1033G>T (n.*1033G>T)
c.1373G>T (p.Ser458Ile)
c.1370G>T (p.Ser457Ile)
c.1110G>T
c.1274G>T (p.Ser425Ile)
c.1147G>T
c.1115G>T (p.Ser372Ile)
c.481-181G>T
c.953G>T
c.1249G>T
c.1019G>T (p.Ser340Ile)
n.2110G>T
c.823G>T
c.593-181G>T
c.1019G>T
c.1277G>T (p.Ser426Ile)
n.1065G>T
c.873G>T
2g.32136929T>ACA346502279SPASTc.*1034T>A (n.*1034T>A)
c.1374T>A (p.Ser458Arg)
c.1371T>A (p.Ser457Arg)
c.1111T>A
c.1275T>A (p.Ser425Arg)
c.1148T>A
c.1116T>A (p.Ser372Arg)
c.481-180T>A
c.954T>A
c.1250T>A
c.1020T>A (p.Ser340Arg)
n.2111T>A
c.824T>A
c.593-180T>A
c.1020T>A
c.1278T>A (p.Ser426Arg)
n.1066T>A
c.874T>A
2g.32136929T>CCA44749875SPASTc.*1034T>C (n.*1034T>C)
c.1374T>C (p.Ser458=)
c.1371T>C (p.Ser457=)
c.1111T>C
c.1275T>C (p.Ser425=)
c.1148T>C
c.1116T>C (p.Ser372=)
c.481-180T>C
c.954T>C
c.1250T>C
c.1020T>C (p.Ser340=)
n.2111T>C
c.824T>C
c.593-180T>C
c.1020T>C
c.1278T>C (p.Ser426=)
n.1066T>C
c.874T>C
 dbSNP
2g.32136929T>GCA346502280SPASTc.*1034T>G (n.*1034T>G)
c.1374T>G (p.Ser458Arg)
c.1371T>G (p.Ser457Arg)
c.1111T>G
c.1275T>G (p.Ser425Arg)
c.1148T>G
c.1116T>G (p.Ser372Arg)
c.481-180T>G
c.954T>G
c.1250T>G
c.1020T>G (p.Ser340Arg)
n.2111T>G
c.824T>G
c.593-180T>G
c.1020T>G
c.1278T>G (p.Ser426Arg)
n.1066T>G
c.874T>G
 ClinVar dbSNP
2g.32136929T=CA1242501662SPASTc.*1034T= (n.*1034T=)
c.1374T= (p.Ser458=)
c.1371T= (p.Ser457=)
c.1111T=
c.1275T= (p.Ser425=)
c.1148T=
c.1116T= (p.Ser372=)
c.481-180T=
c.954T=
c.1250T=
c.1020T= (p.Ser340=)
n.2111T=
c.824T=
c.593-180T=
c.1020T=
c.1278T= (p.Ser426=)
n.1066T=
c.874T=
2g.32136930delCA2499215908SPASTc.*1035del (n.*1035del)
c.1375del (p.Arg459AspfsTer3)
c.1372del (p.Arg458AspfsTer3)
c.1112del
c.1276del (p.Arg426AspfsTer3)
c.1149del
c.1117del (p.Arg373AspfsTer3)
c.481-179del
c.955del
c.1251del
c.1021del (p.Arg341AspfsTer3)
n.2112del
c.825del
c.593-179del
c.1021del
c.1279del (p.Arg427AspfsTer3)
n.1067del
c.875del
 ClinVar dbSNP
2g.32136930A=CA1242501671SPASTc.*1035A= (n.*1035A=)
c.1375A= (p.Arg459=)
c.1372A= (p.Arg458=)
c.1112A=
c.1276A= (p.Arg426=)
c.1149A=
c.1117A= (p.Arg373=)
c.481-179A=
c.955A=
c.1251A=
c.1021A= (p.Arg341=)
n.2112A=
c.825A=
c.593-179A=
c.1021A=
c.1279A= (p.Arg427=)
n.1067A=
c.875A=
2g.32136930A>CCA425449028SPASTc.*1035A>C (n.*1035A>C)
c.1375A>C (p.Arg459=)
c.1372A>C (p.Arg458=)
c.1112A>C
c.1276A>C (p.Arg426=)
c.1149A>C
c.1117A>C (p.Arg373=)
c.481-179A>C
c.955A>C
c.1251A>C
c.1021A>C (p.Arg341=)
n.2112A>C
c.825A>C
c.593-179A>C
c.1021A>C
c.1279A>C (p.Arg427=)
n.1067A>C
c.875A>C
 ClinVar
2g.32136930A>GCA346502281SPASTc.*1035A>G (n.*1035A>G)
c.1375A>G (p.Arg459Gly)
c.1372A>G (p.Arg458Gly)
c.1112A>G
c.1276A>G (p.Arg426Gly)
c.1149A>G
c.1117A>G (p.Arg373Gly)
c.481-179A>G
c.955A>G
c.1251A>G
c.1021A>G (p.Arg341Gly)
n.2112A>G
c.825A>G
c.593-179A>G
c.1021A>G
c.1279A>G (p.Arg427Gly)
n.1067A>G
c.875A>G
 ClinVar dbSNP
2g.32136930A>TCA346502282SPASTc.*1035A>T (n.*1035A>T)
c.1375A>T (p.Arg459Ter)
c.1372A>T (p.Arg458Ter)
c.1112A>T
c.1276A>T (p.Arg426Ter)
c.1149A>T
c.1117A>T (p.Arg373Ter)
c.481-179A>T
c.955A>T
c.1251A>T
c.1021A>T (p.Arg341Ter)
n.2112A>T
c.825A>T
c.593-179A>T
c.1021A>T
c.1279A>T (p.Arg427Ter)
n.1067A>T
c.875A>T
2g.32136931G>ACA346502284SPASTc.*1036G>A (n.*1036G>A)
c.1376G>A (p.Arg459Lys)
c.1373G>A (p.Arg458Lys)
c.1113G>A
c.1277G>A (p.Arg426Lys)
c.1150G>A
c.1118G>A (p.Arg373Lys)
c.481-178G>A
c.956G>A
c.1252G>A
c.1022G>A (p.Arg341Lys)
n.2113G>A
c.826G>A
c.593-178G>A
c.1022G>A
c.1280G>A (p.Arg427Lys)
n.1068G>A
c.876G>A
 ClinVar dbSNP
2g.32136931G>CCA346502285SPASTc.*1036G>C (n.*1036G>C)
c.1376G>C (p.Arg459Thr)
c.1373G>C (p.Arg458Thr)
c.1113G>C
c.1277G>C (p.Arg426Thr)
c.1150G>C
c.1118G>C (p.Arg373Thr)
c.481-178G>C
c.956G>C
c.1252G>C
c.1022G>C (p.Arg341Thr)
n.2113G>C
c.826G>C
c.593-178G>C
c.1022G>C
c.1280G>C (p.Arg427Thr)
n.1068G>C
c.876G>C
 dbSNP
2g.32136931G=CA1242501675SPASTc.*1036G= (n.*1036G=)
c.1376G= (p.Arg459=)
c.1373G= (p.Arg458=)
c.1113G=
c.1277G= (p.Arg426=)
c.1150G=
c.1118G= (p.Arg373=)
c.481-178G=
c.956G=
c.1252G=
c.1022G= (p.Arg341=)
n.2113G=
c.826G=
c.593-178G=
c.1022G=
c.1280G= (p.Arg427=)
n.1068G=
c.876G=
2g.32136931G>TCA346502283SPASTc.*1036G>T (n.*1036G>T)
c.1376G>T (p.Arg459Ile)
c.1373G>T (p.Arg458Ile)
c.1113G>T
c.1277G>T (p.Arg426Ile)
c.1150G>T
c.1118G>T (p.Arg373Ile)
c.481-178G>T
c.956G>T
c.1252G>T
c.1022G>T (p.Arg341Ile)
n.2113G>T
c.826G>T
c.593-178G>T
c.1022G>T
c.1280G>T (p.Arg427Ile)
n.1068G>T
c.876G>T
2g.32136932A>CCA346502286SPASTc.*1037A>C (n.*1037A>C)
c.1377A>C (p.Arg459Ser)
c.1374A>C (p.Arg458Ser)
c.1114A>C
c.1278A>C (p.Arg426Ser)
c.1151A>C
c.1119A>C (p.Arg373Ser)
c.481-177A>C
c.957A>C
c.1253A>C
c.1023A>C (p.Arg341Ser)
n.2114A>C
c.827A>C
c.593-177A>C
c.1023A>C
c.1281A>C (p.Arg427Ser)
n.1069A>C
c.877A>C
2g.32136932A>GCA425449031SPASTc.*1037A>G (n.*1037A>G)
c.1377A>G (p.Arg459=)
c.1374A>G (p.Arg458=)
c.1114A>G
c.1278A>G (p.Arg426=)
c.1151A>G
c.1119A>G (p.Arg373=)
c.481-177A>G
c.957A>G
c.1253A>G
c.1023A>G (p.Arg341=)
n.2114A>G
c.827A>G
c.593-177A>G
c.1023A>G
c.1281A>G (p.Arg427=)
n.1069A>G
c.877A>G
2g.32136932A>TCA346502287SPASTc.*1037A>T (n.*1037A>T)
c.1377A>T (p.Arg459Ser)
c.1374A>T (p.Arg458Ser)
c.1114A>T
c.1278A>T (p.Arg426Ser)
c.1151A>T
c.1119A>T (p.Arg373Ser)
c.481-177A>T
c.957A>T
c.1253A>T
c.1023A>T (p.Arg341Ser)
n.2114A>T
c.827A>T
c.593-177A>T
c.1023A>T
c.1281A>T (p.Arg427Ser)
n.1069A>T
c.877A>T
2g.32136932_32136933delinsCTACA2586964765SPASTc.*1037_*1038delinsCTA (n.*1037_*1038delinsCTA)
c.1377_1378delinsCTA (p.Arg459SerfsTer2)
c.1374_1375delinsCTA (p.Arg458SerfsTer2)
c.1114_1115delinsCTA
c.1278_1279delinsCTA (p.Arg426SerfsTer2)
c.1151_1152delinsCTA
c.1119_1120delinsCTA (p.Arg373SerfsTer2)
c.481-177_481-176delinsCTA
c.957_958delinsCTA
c.1253_1254delinsCTA
c.1023_1024delinsCTA (p.Arg341SerfsTer2)
n.2114_2115delinsCTA
c.827_828delinsCTA
c.593-177_593-176delinsCTA
c.1023_1024delinsCTA
c.1281_1282delinsCTA (p.Arg427SerfsTer2)
n.1069_1070delinsCTA
c.877_878delinsCTA
2g.32136933C>ACA346502288SPASTc.*1038C>A (n.*1038C>A)
c.1378C>A (p.Arg460Ser)
c.1375C>A (p.Arg459Ser)
c.1115C>A
c.1279C>A (p.Arg427Ser)
c.1152C>A
c.1120C>A (p.Arg374Ser)
c.481-176C>A
c.958C>A
c.1254C>A
c.1024C>A (p.Arg342Ser)
n.2115C>A
c.828C>A
c.593-176C>A
c.1024C>A
c.1282C>A (p.Arg428Ser)
n.1070C>A
c.878C>A
 dbSNP
2g.32136933C=CA1242501684SPASTc.*1038C= (n.*1038C=)
c.1378C= (p.Arg460=)
c.1375C= (p.Arg459=)
c.1115C=
c.1279C= (p.Arg427=)
c.1152C=
c.1120C= (p.Arg374=)
c.481-176C=
c.958C=
c.1254C=
c.1024C= (p.Arg342=)
n.2115C=
c.828C=
c.593-176C=
c.1024C=
c.1282C= (p.Arg428=)
n.1070C=
c.878C=
2g.32136933C>GCA346502289SPASTc.*1038C>G (n.*1038C>G)
c.1378C>G (p.Arg460Gly)
c.1375C>G (p.Arg459Gly)
c.1115C>G
c.1279C>G (p.Arg427Gly)
c.1152C>G
c.1120C>G (p.Arg374Gly)
c.481-176C>G
c.958C>G
c.1254C>G
c.1024C>G (p.Arg342Gly)
n.2115C>G
c.828C>G
c.593-176C>G
c.1024C>G
c.1282C>G (p.Arg428Gly)
n.1070C>G
c.878C>G
2g.32136933C>TCA10581968SPASTc.*1038C>T (n.*1038C>T)
c.1378C>T (p.Arg460Cys)
c.1375C>T (p.Arg459Cys)
c.1115C>T
c.1279C>T (p.Arg427Cys)
c.1152C>T
c.1120C>T (p.Arg374Cys)
c.481-176C>T
c.958C>T
c.1254C>T
c.1024C>T (p.Arg342Cys)
n.2115C>T
c.828C>T
c.593-176C>T
c.1024C>T
c.1282C>T (p.Arg428Cys)
n.1070C>T
c.878C>T
 ClinVar dbSNP gnomAD v4
2g.32136934delCA2586964766SPASTc.*1039del (n.*1039del)
c.1379del (p.Arg460ProfsTer2)
c.1376del (p.Arg459ProfsTer2)
c.1116del
c.1280del (p.Arg427ProfsTer2)
c.1153del
c.1121del (p.Arg374ProfsTer2)
c.481-175del
c.959del
c.1255del
c.1025del (p.Arg342ProfsTer2)
n.2116del
c.829del
c.593-175del
c.1025del
c.1283del (p.Arg428ProfsTer2)
n.1071del
c.879del
2g.32136934G>ACA346502290SPASTc.*1039G>A (n.*1039G>A)
c.1379G>A (p.Arg460His)
c.1376G>A (p.Arg459His)
c.1116G>A
c.1280G>A (p.Arg427His)
c.1153G>A
c.1121G>A (p.Arg374His)
c.481-175G>A
c.959G>A
c.1255G>A
c.1025G>A (p.Arg342His)
n.2116G>A
c.829G>A
c.593-175G>A
c.1025G>A
c.1283G>A (p.Arg428His)
n.1071G>A
c.879G>A
 ClinVar dbSNP gnomAD v4 COSMIC
2g.32136934G>CCA346502291SPASTc.*1039G>C (n.*1039G>C)
c.1379G>C (p.Arg460Pro)
c.1376G>C (p.Arg459Pro)
c.1116G>C
c.1280G>C (p.Arg427Pro)
c.1153G>C
c.1121G>C (p.Arg374Pro)
c.481-175G>C
c.959G>C
c.1255G>C
c.1025G>C (p.Arg342Pro)
n.2116G>C
c.829G>C
c.593-175G>C
c.1025G>C
c.1283G>C (p.Arg428Pro)
n.1071G>C
c.879G>C
2g.32136934G=CA1242501690SPASTc.*1039G= (n.*1039G=)
c.1379G= (p.Arg460=)
c.1376G= (p.Arg459=)
c.1116G=
c.1280G= (p.Arg427=)
c.1153G=
c.1121G= (p.Arg374=)
c.481-175G=
c.959G=
c.1255G=
c.1025G= (p.Arg342=)
n.2116G=
c.829G=
c.593-175G=
c.1025G=
c.1283G= (p.Arg428=)
n.1071G=
c.879G=
2g.32136934G>TCA346502292SPASTc.*1039G>T (n.*1039G>T)
c.1379G>T (p.Arg460Leu)
c.1376G>T (p.Arg459Leu)
c.1116G>T
c.1280G>T (p.Arg427Leu)
c.1153G>T
c.1121G>T (p.Arg374Leu)
c.481-175G>T
c.959G>T
c.1255G>T
c.1025G>T (p.Arg342Leu)
n.2116G>T
c.829G>T
c.593-175G>T
c.1025G>T
c.1283G>T (p.Arg428Leu)
n.1071G>T
c.879G>T
 ClinVar dbSNP
2g.32136935C>ACA425449035SPASTc.*1040C>A (n.*1040C>A)
c.1380C>A (p.Arg460=)
c.1377C>A (p.Arg459=)
c.1117C>A
c.1281C>A (p.Arg427=)
c.1154C>A
c.1122C>A (p.Arg374=)
c.481-174C>A
c.960C>A
c.1256C>A
c.1026C>A (p.Arg342=)
n.2117C>A
c.830C>A
c.593-174C>A
c.1026C>A
c.1284C>A (p.Arg428=)
n.1072C>A
c.880C>A
2g.32136935C>GCA425449036SPASTc.*1040C>G (n.*1040C>G)
c.1380C>G (p.Arg460=)
c.1377C>G (p.Arg459=)
c.1117C>G
c.1281C>G (p.Arg427=)
c.1154C>G
c.1122C>G (p.Arg374=)
c.481-174C>G
c.960C>G
c.1256C>G
c.1026C>G (p.Arg342=)
n.2117C>G
c.830C>G
c.593-174C>G
c.1026C>G
c.1284C>G (p.Arg428=)
n.1072C>G
c.880C>G
 gnomAD v4
2g.32136935C>TCA425449037SPASTc.*1040C>T (n.*1040C>T)
c.1380C>T (p.Arg460=)
c.1377C>T (p.Arg459=)
c.1117C>T
c.1281C>T (p.Arg427=)
c.1154C>T
c.1122C>T (p.Arg374=)
c.481-174C>T
c.960C>T
c.1256C>T
c.1026C>T (p.Arg342=)
n.2117C>T
c.830C>T
c.593-174C>T
c.1026C>T
c.1284C>T (p.Arg428=)
n.1072C>T
c.880C>T
 gnomAD v4
2g.32136936C>ACA346502293SPASTc.*1041C>A (n.*1041C>A)
c.1381C>A (p.Leu461Ile)
c.1378C>A (p.Leu460Ile)
c.1118C>A
c.1282C>A (p.Leu428Ile)
c.1155C>A
c.1123C>A (p.Leu375Ile)
c.481-173C>A
c.961C>A
c.1257C>A
c.1027C>A (p.Leu343Ile)
n.2118C>A
c.831C>A
c.593-173C>A
c.1027C>A
c.1285C>A (p.Leu429Ile)
n.1073C>A
c.881C>A
2g.32136936C>GCA346502294SPASTc.*1041C>G (n.*1041C>G)
c.1381C>G (p.Leu461Val)
c.1378C>G (p.Leu460Val)
c.1118C>G
c.1282C>G (p.Leu428Val)
c.1155C>G
c.1123C>G (p.Leu375Val)
c.481-173C>G
c.961C>G
c.1257C>G
c.1027C>G (p.Leu343Val)
n.2118C>G
c.831C>G
c.593-173C>G
c.1027C>G
c.1285C>G (p.Leu429Val)
n.1073C>G
c.881C>G
2g.32136936C>TCA425449040SPASTc.*1041C>T (n.*1041C>T)
c.1381C>T (p.Leu461=)
c.1378C>T (p.Leu460=)
c.1118C>T
c.1282C>T (p.Leu428=)
c.1155C>T
c.1123C>T (p.Leu375=)
c.481-173C>T
c.961C>T
c.1257C>T
c.1027C>T (p.Leu343=)
n.2118C>T
c.831C>T
c.593-173C>T
c.1027C>T
c.1285C>T (p.Leu429=)
n.1073C>T
c.881C>T
2g.32136937delCA2573051936SPASTc.*1042del (n.*1042del)
c.1382del (p.Leu461GlnfsTer6)
c.1379del (p.Leu460GlnfsTer6)
c.1119del
c.1283del (p.Leu428GlnfsTer6)
c.1156del
c.1124del (p.Leu375GlnfsTer6)
c.481-172del
c.962del
c.1258del
c.1028del (p.Leu343GlnfsTer6)
n.2119del
c.832del
c.593-172del
c.1028del
c.1286del (p.Leu429GlnfsTer6)
n.1074del
c.882del
 ClinVar dbSNP
2g.32136937T>ACA346502295SPASTc.*1042T>A (n.*1042T>A)
c.1382T>A (p.Leu461Gln)
c.1379T>A (p.Leu460Gln)
c.1119T>A
c.1283T>A (p.Leu428Gln)
c.1156T>A
c.1124T>A (p.Leu375Gln)
c.481-172T>A
c.962T>A
c.1258T>A
c.1028T>A (p.Leu343Gln)
n.2119T>A
c.832T>A
c.593-172T>A
c.1028T>A
c.1286T>A (p.Leu429Gln)
n.1074T>A
c.882T>A
2g.32136937T>CCA346502296SPASTc.*1042T>C (n.*1042T>C)
c.1382T>C (p.Leu461Pro)
c.1379T>C (p.Leu460Pro)
c.1119T>C
c.1283T>C (p.Leu428Pro)
c.1156T>C
c.1124T>C (p.Leu375Pro)
c.481-172T>C
c.962T>C
c.1258T>C
c.1028T>C (p.Leu343Pro)
n.2119T>C
c.832T>C
c.593-172T>C
c.1028T>C
c.1286T>C (p.Leu429Pro)
n.1074T>C
c.882T>C
 ClinVar dbSNP
2g.32136937T>GCA346502297SPASTc.*1042T>G (n.*1042T>G)
c.1382T>G (p.Leu461Arg)
c.1379T>G (p.Leu460Arg)
c.1119T>G
c.1283T>G (p.Leu428Arg)
c.1156T>G
c.1124T>G (p.Leu375Arg)
c.481-172T>G
c.962T>G
c.1258T>G
c.1028T>G (p.Leu343Arg)
n.2119T>G
c.832T>G
c.593-172T>G
c.1028T>G
c.1286T>G (p.Leu429Arg)
n.1074T>G
c.882T>G
2g.32136937T=CA1242501697SPASTc.*1042T= (n.*1042T=)
c.1382T= (p.Leu461=)
c.1379T= (p.Leu460=)
c.1119T=
c.1283T= (p.Leu428=)
c.1156T=
c.1124T= (p.Leu375=)
c.481-172T=
c.962T=
c.1258T=
c.1028T= (p.Leu343=)
n.2119T=
c.832T=
c.593-172T=
c.1028T=
c.1286T= (p.Leu429=)
n.1074T=
c.882T=
2g.32136938A=CA1242501701SPASTc.*1043A= (n.*1043A=)
c.1383A= (p.Leu461=)
c.1380A= (p.Leu460=)
c.1120A=
c.1284A= (p.Leu428=)
c.1157A=
c.1125A= (p.Leu375=)
c.481-171A=
c.963A=
c.1259A=
c.1029A= (p.Leu343=)
n.2120A=
c.833A=
c.593-171A=
c.1029A=
c.1287A= (p.Leu429=)
n.1075A=
c.883A=
2g.32136938A>CCA425449044SPASTc.*1043A>C (n.*1043A>C)
c.1383A>C (p.Leu461=)
c.1380A>C (p.Leu460=)
c.1120A>C
c.1284A>C (p.Leu428=)
c.1157A>C
c.1125A>C (p.Leu375=)
c.481-171A>C
c.963A>C
c.1259A>C
c.1029A>C (p.Leu343=)
n.2120A>C
c.833A>C
c.593-171A>C
c.1029A>C
c.1287A>C (p.Leu429=)
n.1075A>C
c.883A>C
2g.32136938A>GCA425449045SPASTc.*1043A>G (n.*1043A>G)
c.1383A>G (p.Leu461=)
c.1380A>G (p.Leu460=)
c.1120A>G
c.1284A>G (p.Leu428=)
c.1157A>G
c.1125A>G (p.Leu375=)
c.481-171A>G
c.963A>G
c.1259A>G
c.1029A>G (p.Leu343=)
n.2120A>G
c.833A>G
c.593-171A>G
c.1029A>G
c.1287A>G (p.Leu429=)
n.1075A>G
c.883A>G
 COSMIC
2g.32136938A>TCA1600878SPASTc.*1043A>T (n.*1043A>T)
c.1383A>T (p.Leu461=)
c.1380A>T (p.Leu460=)
c.1120A>T
c.1284A>T (p.Leu428=)
c.1157A>T
c.1125A>T (p.Leu375=)
c.481-171A>T
c.963A>T
c.1259A>T
c.1029A>T (p.Leu343=)
n.2120A>T
c.833A>T
c.593-171A>T
c.1029A>T
c.1287A>T (p.Leu429=)
n.1075A>T
c.883A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136939A=CA1242501706SPASTc.*1044A= (n.*1044A=)
c.1384A= (p.Lys462=)
c.1381A= (p.Lys461=)
c.1121A=
c.1285A= (p.Lys429=)
c.1158A=
c.1126A= (p.Lys376=)
c.481-170A=
c.964A=
c.1260A=
c.1030A= (p.Lys344=)
n.2121A=
c.834A=
c.593-170A=
c.1030A=
c.1288A= (p.Lys430=)
n.1076A=
c.884A=
2g.32136939A>CCA346502298SPASTc.*1044A>C (n.*1044A>C)
c.1384A>C (p.Lys462Gln)
c.1381A>C (p.Lys461Gln)
c.1121A>C
c.1285A>C (p.Lys429Gln)
c.1158A>C
c.1126A>C (p.Lys376Gln)
c.481-170A>C
c.964A>C
c.1260A>C
c.1030A>C (p.Lys344Gln)
n.2121A>C
c.834A>C
c.593-170A>C
c.1030A>C
c.1288A>C (p.Lys430Gln)
n.1076A>C
c.884A>C
 ClinVar dbSNP
2g.32136939A>GCA346502299SPASTc.*1044A>G (n.*1044A>G)
c.1384A>G (p.Lys462Glu)
c.1381A>G (p.Lys461Glu)
c.1121A>G
c.1285A>G (p.Lys429Glu)
c.1158A>G
c.1126A>G (p.Lys376Glu)
c.481-170A>G
c.964A>G
c.1260A>G
c.1030A>G (p.Lys344Glu)
n.2121A>G
c.834A>G
c.593-170A>G
c.1030A>G
c.1288A>G (p.Lys430Glu)
n.1076A>G
c.884A>G
 dbSNP
2g.32136939A>TCA346502300SPASTc.*1044A>T (n.*1044A>T)
c.1384A>T (p.Lys462Ter)
c.1381A>T (p.Lys461Ter)
c.1121A>T
c.1285A>T (p.Lys429Ter)
c.1158A>T
c.1126A>T (p.Lys376Ter)
c.481-170A>T
c.964A>T
c.1260A>T
c.1030A>T (p.Lys344Ter)
n.2121A>T
c.834A>T
c.593-170A>T
c.1030A>T
c.1288A>T (p.Lys430Ter)
n.1076A>T
c.884A>T
2g.32136940A>CCA346502301SPASTc.*1045A>C (n.*1045A>C)
c.1385A>C (p.Lys462Thr)
c.1382A>C (p.Lys461Thr)
c.1122A>C
c.1286A>C (p.Lys429Thr)
c.1159A>C
c.1127A>C (p.Lys376Thr)
c.481-169A>C
c.965A>C
c.1261A>C
c.1031A>C (p.Lys344Thr)
n.2122A>C
c.835A>C
c.593-169A>C
c.1031A>C
c.1289A>C (p.Lys430Thr)
n.1077A>C
c.885A>C
2g.32136940A>GCA346502302SPASTc.*1045A>G (n.*1045A>G)
c.1385A>G (p.Lys462Arg)
c.1382A>G (p.Lys461Arg)
c.1122A>G
c.1286A>G (p.Lys429Arg)
c.1159A>G
c.1127A>G (p.Lys376Arg)
c.481-169A>G
c.965A>G
c.1261A>G
c.1031A>G (p.Lys344Arg)
n.2122A>G
c.835A>G
c.593-169A>G
c.1031A>G
c.1289A>G (p.Lys430Arg)
n.1077A>G
c.885A>G
2g.32136940A>TCA346502303SPASTc.*1045A>T (n.*1045A>T)
c.1385A>T (p.Lys462Ile)
c.1382A>T (p.Lys461Ile)
c.1122A>T
c.1286A>T (p.Lys429Ile)
c.1159A>T
c.1127A>T (p.Lys376Ile)
c.481-169A>T
c.965A>T
c.1261A>T
c.1031A>T (p.Lys344Ile)
n.2122A>T
c.835A>T
c.593-169A>T
c.1031A>T
c.1289A>T (p.Lys430Ile)
n.1077A>T
c.885A>T
 ClinVar
2g.32136941A=CA1242501713SPASTc.*1046A= (n.*1046A=)
c.1386A= (p.Lys462=)
c.1383A= (p.Lys461=)
c.1123A=
c.1287A= (p.Lys429=)
c.1160A=
c.1128A= (p.Lys376=)
c.481-168A=
c.966A=
c.1262A=
c.1032A= (p.Lys344=)
n.2123A=
c.836A=
c.593-168A=
c.1032A=
c.1290A= (p.Lys430=)
n.1078A=
c.886A=
2g.32136941A>CCA346502304SPASTc.*1046A>C (n.*1046A>C)
c.1386A>C (p.Lys462Asn)
c.1383A>C (p.Lys461Asn)
c.1123A>C
c.1287A>C (p.Lys429Asn)
c.1160A>C
c.1128A>C (p.Lys376Asn)
c.481-168A>C
c.966A>C
c.1262A>C
c.1032A>C (p.Lys344Asn)
n.2123A>C
c.836A>C
c.593-168A>C
c.1032A>C
c.1290A>C (p.Lys430Asn)
n.1078A>C
c.886A>C
 ClinVar dbSNP
2g.32136941A>GCA425449050SPASTc.*1046A>G (n.*1046A>G)
c.1386A>G (p.Lys462=)
c.1383A>G (p.Lys461=)
c.1123A>G
c.1287A>G (p.Lys429=)
c.1160A>G
c.1128A>G (p.Lys376=)
c.481-168A>G
c.966A>G
c.1262A>G
c.1032A>G (p.Lys344=)
n.2123A>G
c.836A>G
c.593-168A>G
c.1032A>G
c.1290A>G (p.Lys430=)
n.1078A>G
c.886A>G
2g.32136941A>TCA346502305SPASTc.*1046A>T (n.*1046A>T)
c.1386A>T (p.Lys462Asn)
c.1383A>T (p.Lys461Asn)
c.1123A>T
c.1287A>T (p.Lys429Asn)
c.1160A>T
c.1128A>T (p.Lys376Asn)
c.481-168A>T
c.966A>T
c.1262A>T
c.1032A>T (p.Lys344Asn)
n.2123A>T
c.836A>T
c.593-168A>T
c.1032A>T
c.1290A>T (p.Lys430Asn)
n.1078A>T
c.886A>T
2g.32136942A=CA1242501716SPASTc.*1047A= (n.*1047A=)
c.1387A= (p.Thr463=)
c.1384A= (p.Thr462=)
c.1124A=
c.1288A= (p.Thr430=)
c.1161A=
c.1129A= (p.Thr377=)
c.481-167A=
c.967A=
c.1263A=
c.1033A= (p.Thr345=)
n.2124A=
c.837A=
c.593-167A=
c.1033A=
c.1291A= (p.Thr431=)
n.1079A=
c.887A=
2g.32136942A>CCA346502306SPASTc.*1047A>C (n.*1047A>C)
c.1387A>C (p.Thr463Pro)
c.1384A>C (p.Thr462Pro)
c.1124A>C
c.1288A>C (p.Thr430Pro)
c.1161A>C
c.1129A>C (p.Thr377Pro)
c.481-167A>C
c.967A>C
c.1263A>C
c.1033A>C (p.Thr345Pro)
n.2124A>C
c.837A>C
c.593-167A>C
c.1033A>C
c.1291A>C (p.Thr431Pro)
n.1079A>C
c.887A>C
2g.32136942A>GCA346502307SPASTc.*1047A>G (n.*1047A>G)
c.1387A>G (p.Thr463Ala)
c.1384A>G (p.Thr462Ala)
c.1124A>G
c.1288A>G (p.Thr430Ala)
c.1161A>G
c.1129A>G (p.Thr377Ala)
c.481-167A>G
c.967A>G
c.1263A>G
c.1033A>G (p.Thr345Ala)
n.2124A>G
c.837A>G
c.593-167A>G
c.1033A>G
c.1291A>G (p.Thr431Ala)
n.1079A>G
c.887A>G
 dbSNP
2g.32136942A>TCA346502308SPASTc.*1047A>T (n.*1047A>T)
c.1387A>T (p.Thr463Ser)
c.1384A>T (p.Thr462Ser)
c.1124A>T
c.1288A>T (p.Thr430Ser)
c.1161A>T
c.1129A>T (p.Thr377Ser)
c.481-167A>T
c.967A>T
c.1263A>T
c.1033A>T (p.Thr345Ser)
n.2124A>T
c.837A>T
c.593-167A>T
c.1033A>T
c.1291A>T (p.Thr431Ser)
n.1079A>T
c.887A>T
2g.32136943C>ACA346502309SPASTc.*1048C>A (n.*1048C>A)
c.1388C>A (p.Thr463Asn)
c.1385C>A (p.Thr462Asn)
c.1125C>A
c.1289C>A (p.Thr430Asn)
c.1162C>A
c.1130C>A (p.Thr377Asn)
c.481-166C>A
c.968C>A
c.1264C>A
c.1034C>A (p.Thr345Asn)
n.2125C>A
c.838C>A
c.593-166C>A
c.1034C>A
c.1292C>A (p.Thr431Asn)
n.1080C>A
c.888C>A
 ClinVar dbSNP
2g.32136943C>GCA346502310SPASTc.*1048C>G (n.*1048C>G)
c.1388C>G (p.Thr463Ser)
c.1385C>G (p.Thr462Ser)
c.1125C>G
c.1289C>G (p.Thr430Ser)
c.1162C>G
c.1130C>G (p.Thr377Ser)
c.481-166C>G
c.968C>G
c.1264C>G
c.1034C>G (p.Thr345Ser)
n.2125C>G
c.838C>G
c.593-166C>G
c.1034C>G
c.1292C>G (p.Thr431Ser)
n.1080C>G
c.888C>G
2g.32136943C>TCA346502311SPASTc.*1048C>T (n.*1048C>T)
c.1388C>T (p.Thr463Ile)
c.1385C>T (p.Thr462Ile)
c.1125C>T
c.1289C>T (p.Thr430Ile)
c.1162C>T
c.1130C>T (p.Thr377Ile)
c.481-166C>T
c.968C>T
c.1264C>T
c.1034C>T (p.Thr345Ile)
n.2125C>T
c.838C>T
c.593-166C>T
c.1034C>T
c.1292C>T (p.Thr431Ile)
n.1080C>T
c.888C>T
2g.32136944T>ACA425449054SPASTc.*1049T>A (n.*1049T>A)
c.1389T>A (p.Thr463=)
c.1386T>A (p.Thr462=)
c.1126T>A
c.1290T>A (p.Thr430=)
c.1163T>A
c.1131T>A (p.Thr377=)
c.481-165T>A
c.969T>A
c.1265T>A
c.1035T>A (p.Thr345=)
n.2126T>A
c.839T>A
c.593-165T>A
c.1035T>A
c.1293T>A (p.Thr431=)
n.1081T>A
c.889T>A
 gnomAD v4
2g.32136944T>CCA425449055SPASTc.*1049T>C (n.*1049T>C)
c.1389T>C (p.Thr463=)
c.1386T>C (p.Thr462=)
c.1126T>C
c.1290T>C (p.Thr430=)
c.1163T>C
c.1131T>C (p.Thr377=)
c.481-165T>C
c.969T>C
c.1265T>C
c.1035T>C (p.Thr345=)
n.2126T>C
c.839T>C
c.593-165T>C
c.1035T>C
c.1293T>C (p.Thr431=)
n.1081T>C
c.889T>C
2g.32136944T>GCA425449056SPASTc.*1049T>G (n.*1049T>G)
c.1389T>G (p.Thr463=)
c.1386T>G (p.Thr462=)
c.1126T>G
c.1290T>G (p.Thr430=)
c.1163T>G
c.1131T>G (p.Thr377=)
c.481-165T>G
c.969T>G
c.1265T>G
c.1035T>G (p.Thr345=)
n.2126T>G
c.839T>G
c.593-165T>G
c.1035T>G
c.1293T>G (p.Thr431=)
n.1081T>G
c.889T>G
2g.32136945G>ACA346502314SPASTc.*1050G>A (n.*1050G>A)
c.1390G>A (p.Glu464Lys)
c.1387G>A (p.Glu463Lys)
c.1127G>A
c.1291G>A (p.Glu431Lys)
c.1164G>A
c.1132G>A (p.Glu378Lys)
c.481-164G>A
c.970G>A
c.1266G>A
c.1036G>A (p.Glu346Lys)
n.2127G>A
c.840G>A
c.593-164G>A
c.1036G>A
c.1294G>A (p.Glu432Lys)
n.1082G>A
c.890G>A
 ClinVar dbSNP
2g.32136945G>CCA346502313SPASTc.*1050G>C (n.*1050G>C)
c.1390G>C (p.Glu464Gln)
c.1387G>C (p.Glu463Gln)
c.1127G>C
c.1291G>C (p.Glu431Gln)
c.1164G>C
c.1132G>C (p.Glu378Gln)
c.481-164G>C
c.970G>C
c.1266G>C
c.1036G>C (p.Glu346Gln)
n.2127G>C
c.840G>C
c.593-164G>C
c.1036G>C
c.1294G>C (p.Glu432Gln)
n.1082G>C
c.890G>C
 gnomAD v4
2g.32136945G=CA1242501720SPASTc.*1050G= (n.*1050G=)
c.1390G= (p.Glu464=)
c.1387G= (p.Glu463=)
c.1127G=
c.1291G= (p.Glu431=)
c.1164G=
c.1132G= (p.Glu378=)
c.481-164G=
c.970G=
c.1266G=
c.1036G= (p.Glu346=)
n.2127G=
c.840G=
c.593-164G=
c.1036G=
c.1294G= (p.Glu432=)
n.1082G=
c.890G=
2g.32136945G>TCA346502312SPASTc.*1050G>T (n.*1050G>T)
c.1390G>T (p.Glu464Ter)
c.1387G>T (p.Glu463Ter)
c.1127G>T
c.1291G>T (p.Glu431Ter)
c.1164G>T
c.1132G>T (p.Glu378Ter)
c.481-164G>T
c.970G>T
c.1266G>T
c.1036G>T (p.Glu346Ter)
n.2127G>T
c.840G>T
c.593-164G>T
c.1036G>T
c.1294G>T (p.Glu432Ter)
n.1082G>T
c.890G>T
 ClinVar dbSNP
2g.32136945_32136946delinsGACA1242501719SPASTc.*1050_*1051delinsGA (n.*1050_*1051delinsGA)
c.1390_1391delinsGA (p.Glu464=)
c.1387_1388delinsGA (p.Glu463=)
c.1127_1128delinsGA
c.1291_1292delinsGA (p.Glu431=)
c.1164_1165delinsGA
c.1132_1133delinsGA (p.Glu378=)
c.481-164_481-163delinsGA
c.970_971delinsGA
c.1266_1267delinsGA
c.1036_1037delinsGA (p.Glu346=)
n.2127_2128delinsGA
c.840_841delinsGA
c.593-164_593-163delinsGA
c.1036_1037delinsGA
c.1294_1295delinsGA (p.Glu432=)
n.1082_1083delinsGA
c.890_891delinsGA
2g.32136946A=CA1242501721SPASTc.*1051A= (n.*1051A=)
c.1391A= (p.Glu464=)
c.1388A= (p.Glu463=)
c.1128A=
c.1292A= (p.Glu431=)
c.1165A=
c.1133A= (p.Glu378=)
c.481-163A=
c.971A=
c.1267A=
c.1037A= (p.Glu346=)
n.2128A=
c.841A=
c.593-163A=
c.1037A=
c.1295A= (p.Glu432=)
n.1083A=
c.891A=
2g.32136946A>CCA346502316SPASTc.*1051A>C (n.*1051A>C)
c.1391A>C (p.Glu464Ala)
c.1388A>C (p.Glu463Ala)
c.1128A>C
c.1292A>C (p.Glu431Ala)
c.1165A>C
c.1133A>C (p.Glu378Ala)
c.481-163A>C
c.971A>C
c.1267A>C
c.1037A>C (p.Glu346Ala)
n.2128A>C
c.841A>C
c.593-163A>C
c.1037A>C
c.1295A>C (p.Glu432Ala)
n.1083A>C
c.891A>C
 ClinVar dbSNP
2g.32136946A>GCA346502315SPASTc.*1051A>G (n.*1051A>G)
c.1391A>G (p.Glu464Gly)
c.1388A>G (p.Glu463Gly)
c.1128A>G
c.1292A>G (p.Glu431Gly)
c.1165A>G
c.1133A>G (p.Glu378Gly)
c.481-163A>G
c.971A>G
c.1267A>G
c.1037A>G (p.Glu346Gly)
n.2128A>G
c.841A>G
c.593-163A>G
c.1037A>G
c.1295A>G (p.Glu432Gly)
n.1083A>G
c.891A>G
 ClinVar dbSNP
2g.32136946A>TCA346502317SPASTc.*1051A>T (n.*1051A>T)
c.1391A>T (p.Glu464Val)
c.1388A>T (p.Glu463Val)
c.1128A>T
c.1292A>T (p.Glu431Val)
c.1165A>T
c.1133A>T (p.Glu378Val)
c.481-163A>T
c.971A>T
c.1267A>T
c.1037A>T (p.Glu346Val)
n.2128A>T
c.841A>T
c.593-163A>T
c.1037A>T
c.1295A>T (p.Glu432Val)
n.1083A>T
c.891A>T
2g.32136947delCA891843420SPASTc.*1052del (n.*1052del)
c.1392del (p.Glu464AspfsTer3)
c.1389del (p.Glu463AspfsTer3)
c.1129del
c.1293del (p.Glu431AspfsTer3)
c.1166del
c.1134del (p.Glu378AspfsTer3)
c.481-162del
c.972del
c.1268del
c.1038del (p.Glu346AspfsTer3)
n.2129del
c.842del
c.593-162del
c.1038del
c.1296del (p.Glu432AspfsTer3)
n.1084del
c.892del
 ClinVar dbSNP
2g.32136949_32136955dupCA2499215909SPASTc.*1054_*1060dup (n.*1054_*1060dup)
c.1394_1400dup (p.Glu468SerfsTer5)
c.1391_1397dup (p.Glu467SerfsTer5)
c.1131_1137dup
c.1295_1301dup (p.Glu435SerfsTer5)
c.1168_1174dup
c.1136_1142dup (p.Glu382SerfsTer5)
c.481-160_481-154dup
c.974_980dup
c.1270_1276dup
c.1040_1046dup (p.Glu350SerfsTer5)
n.2131_2137dup
c.844_850dup
c.593-160_593-154dup
c.1040_1046dup
c.1298_1304dup (p.Glu436SerfsTer5)
n.1086_1092dup
c.894_900dup
 ClinVar dbSNP
2g.32136947A>CCA346502318SPASTc.*1052A>C (n.*1052A>C)
c.1392A>C (p.Glu464Asp)
c.1389A>C (p.Glu463Asp)
c.1129A>C
c.1293A>C (p.Glu431Asp)
c.1166A>C
c.1134A>C (p.Glu378Asp)
c.481-162A>C
c.972A>C
c.1268A>C
c.1038A>C (p.Glu346Asp)
n.2129A>C
c.842A>C
c.593-162A>C
c.1038A>C
c.1296A>C (p.Glu432Asp)
n.1084A>C
c.892A>C
2g.32136947A>GCA425449061SPASTc.*1052A>G (n.*1052A>G)
c.1392A>G (p.Glu464=)
c.1389A>G (p.Glu463=)
c.1129A>G
c.1293A>G (p.Glu431=)
c.1166A>G
c.1134A>G (p.Glu378=)
c.481-162A>G
c.972A>G
c.1268A>G
c.1038A>G (p.Glu346=)
n.2129A>G
c.842A>G
c.593-162A>G
c.1038A>G
c.1296A>G (p.Glu432=)
n.1084A>G
c.892A>G
2g.32136947A>TCA346502319SPASTc.*1052A>T (n.*1052A>T)
c.1392A>T (p.Glu464Asp)
c.1389A>T (p.Glu463Asp)
c.1129A>T
c.1293A>T (p.Glu431Asp)
c.1166A>T
c.1134A>T (p.Glu378Asp)
c.481-162A>T
c.972A>T
c.1268A>T
c.1038A>T (p.Glu346Asp)
n.2129A>T
c.842A>T
c.593-162A>T
c.1038A>T
c.1296A>T (p.Glu432Asp)
n.1084A>T
c.892A>T
2g.32136947_32136948delinsATCA1242501724SPASTc.*1052_*1053delinsAT (n.*1052_*1053delinsAT)
c.1392_1393delinsAT (p.Glu464=)
c.1389_1390delinsAT (p.Glu463=)
c.1129_1130delinsAT
c.1293_1294delinsAT (p.Glu431=)
c.1166_1167delinsAT
c.1134_1135delinsAT (p.Glu378=)
c.481-162_481-161delinsAT
c.972_973delinsAT
c.1268_1269delinsAT
c.1038_1039delinsAT (p.Glu346=)
n.2129_2130delinsAT
c.842_843delinsAT
c.593-162_593-161delinsAT
c.1038_1039delinsAT
c.1296_1297delinsAT (p.Glu432=)
n.1084_1085delinsAT
c.892_893delinsAT
2g.32136948T>ACA346502320SPASTc.*1053T>A (n.*1053T>A)
c.1393T>A (p.Phe465Ile)
c.1390T>A (p.Phe464Ile)
c.1130T>A
c.1294T>A (p.Phe432Ile)
c.1167T>A
c.1135T>A (p.Phe379Ile)
c.481-161T>A
c.973T>A
c.1269T>A
c.1039T>A (p.Phe347Ile)
n.2130T>A
c.843T>A
c.593-161T>A
c.1039T>A
c.1297T>A (p.Phe433Ile)
n.1085T>A
c.893T>A
2g.32136948T>CCA346502321SPASTc.*1053T>C (n.*1053T>C)
c.1393T>C (p.Phe465Leu)
c.1390T>C (p.Phe464Leu)
c.1130T>C
c.1294T>C (p.Phe432Leu)
c.1167T>C
c.1135T>C (p.Phe379Leu)
c.481-161T>C
c.973T>C
c.1269T>C
c.1039T>C (p.Phe347Leu)
n.2130T>C
c.843T>C
c.593-161T>C
c.1039T>C
c.1297T>C (p.Phe433Leu)
n.1085T>C
c.893T>C
2g.32136948T>GCA346502322SPASTc.*1053T>G (n.*1053T>G)
c.1393T>G (p.Phe465Val)
c.1390T>G (p.Phe464Val)
c.1130T>G
c.1294T>G (p.Phe432Val)
c.1167T>G
c.1135T>G (p.Phe379Val)
c.481-161T>G
c.973T>G
c.1269T>G
c.1039T>G (p.Phe347Val)
n.2130T>G
c.843T>G
c.593-161T>G
c.1039T>G
c.1297T>G (p.Phe433Val)
n.1085T>G
c.893T>G
 COSMIC
2g.32136950delCA253550SPASTc.*1055del (n.*1055del)
c.1395del (p.Leu466Ter)
c.1392del (p.Leu465Ter)
c.1132del
c.1296del (p.Leu433Ter)
c.1169del
c.1137del (p.Leu380Ter)
c.481-159del
c.975del
c.1271del
c.1041del (p.Leu348Ter)
n.2132del
c.845del
c.593-159del
c.1041del
c.1299del (p.Leu434Ter)
n.1087del
c.895del
 ClinVar dbSNP
2g.32136949T>ACA346502323SPASTc.*1054T>A (n.*1054T>A)
c.1394T>A (p.Phe465Tyr)
c.1391T>A (p.Phe464Tyr)
c.1131T>A
c.1295T>A (p.Phe432Tyr)
c.1168T>A
c.1136T>A (p.Phe379Tyr)
c.481-160T>A
c.974T>A
c.1270T>A
c.1040T>A (p.Phe347Tyr)
n.2131T>A
c.844T>A
c.593-160T>A
c.1040T>A
c.1298T>A (p.Phe433Tyr)
n.1086T>A
c.894T>A
 COSMIC
2g.32136949T>CCA346502324SPASTc.*1054T>C (n.*1054T>C)
c.1394T>C (p.Phe465Ser)
c.1391T>C (p.Phe464Ser)
c.1131T>C
c.1295T>C (p.Phe432Ser)
c.1168T>C
c.1136T>C (p.Phe379Ser)
c.481-160T>C
c.974T>C
c.1270T>C
c.1040T>C (p.Phe347Ser)
n.2131T>C
c.844T>C
c.593-160T>C
c.1040T>C
c.1298T>C (p.Phe433Ser)
n.1086T>C
c.894T>C
2g.32136949T>GCA346502325SPASTc.*1054T>G (n.*1054T>G)
c.1394T>G (p.Phe465Cys)
c.1391T>G (p.Phe464Cys)
c.1131T>G
c.1295T>G (p.Phe432Cys)
c.1168T>G
c.1136T>G (p.Phe379Cys)
c.481-160T>G
c.974T>G
c.1270T>G
c.1040T>G (p.Phe347Cys)
n.2131T>G
c.844T>G
c.593-160T>G
c.1040T>G
c.1298T>G (p.Phe433Cys)
n.1086T>G
c.894T>G
2g.32136950T>ACA346502326SPASTc.*1055T>A (n.*1055T>A)
c.1395T>A (p.Phe465Leu)
c.1392T>A (p.Phe464Leu)
c.1132T>A
c.1296T>A (p.Phe432Leu)
c.1169T>A
c.1137T>A (p.Phe379Leu)
c.481-159T>A
c.975T>A
c.1271T>A
c.1041T>A (p.Phe347Leu)
n.2132T>A
c.845T>A
c.593-159T>A
c.1041T>A
c.1299T>A (p.Phe433Leu)
n.1087T>A
c.895T>A
2g.32136950T>CCA425449068SPASTc.*1055T>C (n.*1055T>C)
c.1395T>C (p.Phe465=)
c.1392T>C (p.Phe464=)
c.1132T>C
c.1296T>C (p.Phe432=)
c.1169T>C
c.1137T>C (p.Phe379=)
c.481-159T>C
c.975T>C
c.1271T>C
c.1041T>C (p.Phe347=)
n.2132T>C
c.845T>C
c.593-159T>C
c.1041T>C
c.1299T>C (p.Phe433=)
n.1087T>C
c.895T>C
2g.32136950T>GCA346502327SPASTc.*1055T>G (n.*1055T>G)
c.1395T>G (p.Phe465Leu)
c.1392T>G (p.Phe464Leu)
c.1132T>G
c.1296T>G (p.Phe432Leu)
c.1169T>G
c.1137T>G (p.Phe379Leu)
c.481-159T>G
c.975T>G
c.1271T>G
c.1041T>G (p.Phe347Leu)
n.2132T>G
c.845T>G
c.593-159T>G
c.1041T>G
c.1299T>G (p.Phe433Leu)
n.1087T>G
c.895T>G
2g.32136951C>ACA346502328SPASTc.*1056C>A (n.*1056C>A)
c.1396C>A (p.Leu466Ile)
c.1393C>A (p.Leu465Ile)
c.1133C>A
c.1297C>A (p.Leu433Ile)
c.1170C>A
c.1138C>A (p.Leu380Ile)
c.481-158C>A
c.976C>A
c.1272C>A
c.1042C>A (p.Leu348Ile)
n.2133C>A
c.846C>A
c.593-158C>A
c.1042C>A
c.1300C>A (p.Leu434Ile)
n.1088C>A
c.896C>A
2g.32136951C=CA1242501726SPASTc.*1056C= (n.*1056C=)
c.1396C= (p.Leu466=)
c.1393C= (p.Leu465=)
c.1133C=
c.1297C= (p.Leu433=)
c.1170C=
c.1138C= (p.Leu380=)
c.481-158C=
c.976C=
c.1272C=
c.1042C= (p.Leu348=)
n.2133C=
c.846C=
c.593-158C=
c.1042C=
c.1300C= (p.Leu434=)
n.1088C=
c.896C=
2g.32136951C>GCA346502329SPASTc.*1056C>G (n.*1056C>G)
c.1396C>G (p.Leu466Val)
c.1393C>G (p.Leu465Val)
c.1133C>G
c.1297C>G (p.Leu433Val)
c.1170C>G
c.1138C>G (p.Leu380Val)
c.481-158C>G
c.976C>G
c.1272C>G
c.1042C>G (p.Leu348Val)
n.2133C>G
c.846C>G
c.593-158C>G
c.1042C>G
c.1300C>G (p.Leu434Val)
n.1088C>G
c.896C>G
 ClinVar dbSNP
2g.32136951C>TCA425449073SPASTc.*1056C>T (n.*1056C>T)
c.1396C>T (p.Leu466=)
c.1393C>T (p.Leu465=)
c.1133C>T
c.1297C>T (p.Leu433=)
c.1170C>T
c.1138C>T (p.Leu380=)
c.481-158C>T
c.976C>T
c.1272C>T
c.1042C>T (p.Leu348=)
n.2133C>T
c.846C>T
c.593-158C>T
c.1042C>T
c.1300C>T (p.Leu434=)
n.1088C>T
c.896C>T
 gnomAD v4
2g.32136952T>ACA346502332SPASTc.*1057T>A (n.*1057T>A)
c.1397T>A (p.Leu466Gln)
c.1394T>A (p.Leu465Gln)
c.1134T>A
c.1298T>A (p.Leu433Gln)
c.1171T>A
c.1139T>A (p.Leu380Gln)
c.481-157T>A
c.977T>A
c.1273T>A
c.1043T>A (p.Leu348Gln)
n.2134T>A
c.847T>A
c.593-157T>A
c.1043T>A
c.1301T>A (p.Leu434Gln)
n.1089T>A
c.897T>A
2g.32136952T>CCA346502330SPASTc.*1057T>C (n.*1057T>C)
c.1397T>C (p.Leu466Pro)
c.1394T>C (p.Leu465Pro)
c.1134T>C
c.1298T>C (p.Leu433Pro)
c.1171T>C
c.1139T>C (p.Leu380Pro)
c.481-157T>C
c.977T>C
c.1273T>C
c.1043T>C (p.Leu348Pro)
n.2134T>C
c.847T>C
c.593-157T>C
c.1043T>C
c.1301T>C (p.Leu434Pro)
n.1089T>C
c.897T>C
 ClinVar dbSNP
2g.32136952T>GCA346502331SPASTc.*1057T>G (n.*1057T>G)
c.1397T>G (p.Leu466Arg)
c.1394T>G (p.Leu465Arg)
c.1134T>G
c.1298T>G (p.Leu433Arg)
c.1171T>G
c.1139T>G (p.Leu380Arg)
c.481-157T>G
c.977T>G
c.1273T>G
c.1043T>G (p.Leu348Arg)
n.2134T>G
c.847T>G
c.593-157T>G
c.1043T>G
c.1301T>G (p.Leu434Arg)
n.1089T>G
c.897T>G
2g.32136952T=CA1242501729SPASTc.*1057T= (n.*1057T=)
c.1397T= (p.Leu466=)
c.1394T= (p.Leu465=)
c.1134T=
c.1298T= (p.Leu433=)
c.1171T=
c.1139T= (p.Leu380=)
c.481-157T=
c.977T=
c.1273T=
c.1043T= (p.Leu348=)
n.2134T=
c.847T=
c.593-157T=
c.1043T=
c.1301T= (p.Leu434=)
n.1089T=
c.897T=
2g.32136953A=CA1242501739SPASTc.*1058A= (n.*1058A=)
c.1398A= (p.Leu466=)
c.1395A= (p.Leu465=)
c.1135A=
c.1299A= (p.Leu433=)
c.1172A=
c.1140A= (p.Leu380=)
c.481-156A=
c.978A=
c.1274A=
c.1044A= (p.Leu348=)
n.2135A=
c.848A=
c.593-156A=
c.1044A=
c.1302A= (p.Leu434=)
n.1090A=
c.898A=
2g.32136953A>CCA425449076SPASTc.*1058A>C (n.*1058A>C)
c.1398A>C (p.Leu466=)
c.1395A>C (p.Leu465=)
c.1135A>C
c.1299A>C (p.Leu433=)
c.1172A>C
c.1140A>C (p.Leu380=)
c.481-156A>C
c.978A>C
c.1274A>C
c.1044A>C (p.Leu348=)
n.2135A>C
c.848A>C
c.593-156A>C
c.1044A>C
c.1302A>C (p.Leu434=)
n.1090A>C
c.898A>C
2g.32136953A>GCA1600879SPASTc.*1058A>G (n.*1058A>G)
c.1398A>G (p.Leu466=)
c.1395A>G (p.Leu465=)
c.1135A>G
c.1299A>G (p.Leu433=)
c.1172A>G
c.1140A>G (p.Leu380=)
c.481-156A>G
c.978A>G
c.1274A>G
c.1044A>G (p.Leu348=)
n.2135A>G
c.848A>G
c.593-156A>G
c.1044A>G
c.1302A>G (p.Leu434=)
n.1090A>G
c.898A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136953A>TCA425449078SPASTc.*1058A>T (n.*1058A>T)
c.1398A>T (p.Leu466=)
c.1395A>T (p.Leu465=)
c.1135A>T
c.1299A>T (p.Leu433=)
c.1172A>T
c.1140A>T (p.Leu380=)
c.481-156A>T
c.978A>T
c.1274A>T
c.1044A>T (p.Leu348=)
n.2135A>T
c.848A>T
c.593-156A>T
c.1044A>T
c.1302A>T (p.Leu434=)
n.1090A>T
c.898A>T
2g.32136953_32136969dupCA891843421SPASTc.*1058_*1073+1dup
c.1398_1413+1dup
c.1395_1410+1dup
c.1135_1150+1dup
c.1299_1314+1dup
c.1172_1187+1dup
c.1140_1155+1dup
c.481-156_481-140dup
c.978_993+1dup
c.1274_1289+1dup
c.1044_1059+1dup
n.2135_2150+1dup
c.848_863+1dup
c.593-156_593-140dup
c.1302_1317+1dup
n.1090_1105+1dup
c.898_913+1dup
 ClinVar dbSNP
2g.32136954A=CA1242501743SPASTc.*1059A= (n.*1059A=)
c.1399A= (p.Ile467=)
c.1396A= (p.Ile466=)
c.1136A=
c.1300A= (p.Ile434=)
c.1173A=
c.1141A= (p.Ile381=)
c.481-155A=
c.979A=
c.1275A=
c.1045A= (p.Ile349=)
n.2136A=
c.849A=
c.593-155A=
c.1045A=
c.1303A= (p.Ile435=)
n.1091A=
c.899A=
2g.32136954A>CCA346502333SPASTc.*1059A>C (n.*1059A>C)
c.1399A>C (p.Ile467Leu)
c.1396A>C (p.Ile466Leu)
c.1136A>C
c.1300A>C (p.Ile434Leu)
c.1173A>C
c.1141A>C (p.Ile381Leu)
c.481-155A>C
c.979A>C
c.1275A>C
c.1045A>C (p.Ile349Leu)
n.2136A>C
c.849A>C
c.593-155A>C
c.1045A>C
c.1303A>C (p.Ile435Leu)
n.1091A>C
c.899A>C
2g.32136954A>GCA346502334SPASTc.*1059A>G (n.*1059A>G)
c.1399A>G (p.Ile467Val)
c.1396A>G (p.Ile466Val)
c.1136A>G
c.1300A>G (p.Ile434Val)
c.1173A>G
c.1141A>G (p.Ile381Val)
c.481-155A>G
c.979A>G
c.1275A>G
c.1045A>G (p.Ile349Val)
n.2136A>G
c.849A>G
c.593-155A>G
c.1045A>G
c.1303A>G (p.Ile435Val)
n.1091A>G
c.899A>G
 ClinVar dbSNP
2g.32136954A>TCA346502335SPASTc.*1059A>T (n.*1059A>T)
c.1399A>T (p.Ile467Leu)
c.1396A>T (p.Ile466Leu)
c.1136A>T
c.1300A>T (p.Ile434Leu)
c.1173A>T
c.1141A>T (p.Ile381Leu)
c.481-155A>T
c.979A>T
c.1275A>T
c.1045A>T (p.Ile349Leu)
n.2136A>T
c.849A>T
c.593-155A>T
c.1045A>T
c.1303A>T (p.Ile435Leu)
n.1091A>T
c.899A>T
2g.32136955T>ACA346502336SPASTc.*1060T>A (n.*1060T>A)
c.1400T>A (p.Ile467Lys)
c.1397T>A (p.Ile466Lys)
c.1137T>A
c.1301T>A (p.Ile434Lys)
c.1174T>A
c.1142T>A (p.Ile381Lys)
c.481-154T>A
c.980T>A
c.1276T>A
c.1046T>A (p.Ile349Lys)
n.2137T>A
c.850T>A
c.593-154T>A
c.1046T>A
c.1304T>A (p.Ile435Lys)
n.1092T>A
c.900T>A
2g.32136955T>CCA1600880SPASTc.*1060T>C (n.*1060T>C)
c.1400T>C (p.Ile467Thr)
c.1397T>C (p.Ile466Thr)
c.1137T>C
c.1301T>C (p.Ile434Thr)
c.1174T>C
c.1142T>C (p.Ile381Thr)
c.481-154T>C
c.980T>C
c.1276T>C
c.1046T>C (p.Ile349Thr)
n.2137T>C
c.850T>C
c.593-154T>C
c.1046T>C
c.1304T>C (p.Ile435Thr)
n.1092T>C
c.900T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136955T>GCA346502337SPASTc.*1060T>G (n.*1060T>G)
c.1400T>G (p.Ile467Arg)
c.1397T>G (p.Ile466Arg)
c.1137T>G
c.1301T>G (p.Ile434Arg)
c.1174T>G
c.1142T>G (p.Ile381Arg)
c.481-154T>G
c.980T>G
c.1276T>G
c.1046T>G (p.Ile349Arg)
n.2137T>G
c.850T>G
c.593-154T>G
c.1046T>G
c.1304T>G (p.Ile435Arg)
n.1092T>G
c.900T>G
2g.32136955T=CA1242501746SPASTc.*1060T= (n.*1060T=)
c.1400T= (p.Ile467=)
c.1397T= (p.Ile466=)
c.1137T=
c.1301T= (p.Ile434=)
c.1174T=
c.1142T= (p.Ile381=)
c.481-154T=
c.980T=
c.1276T=
c.1046T= (p.Ile349=)
n.2137T=
c.850T=
c.593-154T=
c.1046T=
c.1304T= (p.Ile435=)
n.1092T=
c.900T=
2g.32136956A>CCA425449081SPASTc.*1061A>C (n.*1061A>C)
c.1401A>C (p.Ile467=)
c.1398A>C (p.Ile466=)
c.1138A>C
c.1302A>C (p.Ile434=)
c.1175A>C
c.1143A>C (p.Ile381=)
c.481-153A>C
c.981A>C
c.1277A>C
c.1047A>C (p.Ile349=)
n.2138A>C
c.851A>C
c.593-153A>C
c.1047A>C
c.1305A>C (p.Ile435=)
n.1093A>C
c.901A>C
2g.32136956A>GCA346502338SPASTc.*1061A>G (n.*1061A>G)
c.1401A>G (p.Ile467Met)
c.1398A>G (p.Ile466Met)
c.1138A>G
c.1302A>G (p.Ile434Met)
c.1175A>G
c.1143A>G (p.Ile381Met)
c.481-153A>G
c.981A>G
c.1277A>G
c.1047A>G (p.Ile349Met)
n.2138A>G
c.851A>G
c.593-153A>G
c.1047A>G
c.1305A>G (p.Ile435Met)
n.1093A>G
c.901A>G
2g.32136956A>TCA425449083SPASTc.*1061A>T (n.*1061A>T)
c.1401A>T (p.Ile467=)
c.1398A>T (p.Ile466=)
c.1138A>T
c.1302A>T (p.Ile434=)
c.1175A>T
c.1143A>T (p.Ile381=)
c.481-153A>T
c.981A>T
c.1277A>T
c.1047A>T (p.Ile349=)
n.2138A>T
c.851A>T
c.593-153A>T
c.1047A>T
c.1305A>T (p.Ile435=)
n.1093A>T
c.901A>T
2g.32136957G>ACA346502339SPASTc.*1062G>A (n.*1062G>A)
c.1402G>A (p.Glu468Lys)
c.1399G>A (p.Glu467Lys)
c.1139G>A
c.1303G>A (p.Glu435Lys)
c.1176G>A
c.1144G>A (p.Glu382Lys)
c.481-152G>A
c.982G>A
c.1278G>A
c.1048G>A (p.Glu350Lys)
n.2139G>A
c.852G>A
c.593-152G>A
c.1048G>A
c.1306G>A (p.Glu436Lys)
n.1094G>A
c.902G>A
2g.32136957G>CCA346502340SPASTc.*1062G>C (n.*1062G>C)
c.1402G>C (p.Glu468Gln)
c.1399G>C (p.Glu467Gln)
c.1139G>C
c.1303G>C (p.Glu435Gln)
c.1176G>C
c.1144G>C (p.Glu382Gln)
c.481-152G>C
c.982G>C
c.1278G>C
c.1048G>C (p.Glu350Gln)
n.2139G>C
c.852G>C
c.593-152G>C
c.1048G>C
c.1306G>C (p.Glu436Gln)
n.1094G>C
c.902G>C
 gnomAD v4
2g.32136957G=CA1242501750SPASTc.*1062G= (n.*1062G=)
c.1402G= (p.Glu468=)
c.1399G= (p.Glu467=)
c.1139G=
c.1303G= (p.Glu435=)
c.1176G=
c.1144G= (p.Glu382=)
c.481-152G=
c.982G=
c.1278G=
c.1048G= (p.Glu350=)
n.2139G=
c.852G=
c.593-152G=
c.1048G=
c.1306G= (p.Glu436=)
n.1094G=
c.902G=
2g.32136957G>TCA346502341SPASTc.*1062G>T (n.*1062G>T)
c.1402G>T (p.Glu468Ter)
c.1399G>T (p.Glu467Ter)
c.1139G>T
c.1303G>T (p.Glu435Ter)
c.1176G>T
c.1144G>T (p.Glu382Ter)
c.481-152G>T
c.982G>T
c.1278G>T
c.1048G>T (p.Glu350Ter)
n.2139G>T
c.852G>T
c.593-152G>T
c.1048G>T
c.1306G>T (p.Glu436Ter)
n.1094G>T
c.902G>T
 dbSNP
2g.32136958A=CA1242501752SPASTc.*1063A= (n.*1063A=)
c.1403A= (p.Glu468=)
c.1400A= (p.Glu467=)
c.1140A=
c.1304A= (p.Glu435=)
c.1177A=
c.1145A= (p.Glu382=)
c.481-151A=
c.983A=
c.1279A=
c.1049A= (p.Glu350=)
n.2140A=
c.853A=
c.593-151A=
c.1049A=
c.1307A= (p.Glu436=)
n.1095A=
c.903A=
2g.32136958A>CCA346502344SPASTc.*1063A>C (n.*1063A>C)
c.1403A>C (p.Glu468Ala)
c.1400A>C (p.Glu467Ala)
c.1140A>C
c.1304A>C (p.Glu435Ala)
c.1177A>C
c.1145A>C (p.Glu382Ala)
c.481-151A>C
c.983A>C
c.1279A>C
c.1049A>C (p.Glu350Ala)
n.2140A>C
c.853A>C
c.593-151A>C
c.1049A>C
c.1307A>C (p.Glu436Ala)
n.1095A>C
c.903A>C
2g.32136958A>GCA346502343SPASTc.*1063A>G (n.*1063A>G)
c.1403A>G (p.Glu468Gly)
c.1400A>G (p.Glu467Gly)
c.1140A>G
c.1304A>G (p.Glu435Gly)
c.1177A>G
c.1145A>G (p.Glu382Gly)
c.481-151A>G
c.983A>G
c.1279A>G
c.1049A>G (p.Glu350Gly)
n.2140A>G
c.853A>G
c.593-151A>G
c.1049A>G
c.1307A>G (p.Glu436Gly)
n.1095A>G
c.903A>G
 dbSNP
2g.32136958A>TCA346502342SPASTc.*1063A>T (n.*1063A>T)
c.1403A>T (p.Glu468Val)
c.1400A>T (p.Glu467Val)
c.1140A>T
c.1304A>T (p.Glu435Val)
c.1177A>T
c.1145A>T (p.Glu382Val)
c.481-151A>T
c.983A>T
c.1279A>T
c.1049A>T (p.Glu350Val)
n.2140A>T
c.853A>T
c.593-151A>T
c.1049A>T
c.1307A>T (p.Glu436Val)
n.1095A>T
c.903A>T
2g.32136959A=CA1242501758SPASTc.*1064A= (n.*1064A=)
c.1404A= (p.Glu468=)
c.1401A= (p.Glu467=)
c.1141A=
c.1305A= (p.Glu435=)
c.1178A=
c.1146A= (p.Glu382=)
c.481-150A=
c.984A=
c.1280A=
c.1050A= (p.Glu350=)
n.2141A=
c.854A=
c.593-150A=
c.1050A=
c.1308A= (p.Glu436=)
n.1096A=
c.904A=
2g.32136959A>CCA346502345SPASTc.*1064A>C (n.*1064A>C)
c.1404A>C (p.Glu468Asp)
c.1401A>C (p.Glu467Asp)
c.1141A>C
c.1305A>C (p.Glu435Asp)
c.1178A>C
c.1146A>C (p.Glu382Asp)
c.481-150A>C
c.984A>C
c.1280A>C
c.1050A>C (p.Glu350Asp)
n.2141A>C
c.854A>C
c.593-150A>C
c.1050A>C
c.1308A>C (p.Glu436Asp)
n.1096A>C
c.904A>C
2g.32136959A>GCA425449087SPASTc.*1064A>G (n.*1064A>G)
c.1404A>G (p.Glu468=)
c.1401A>G (p.Glu467=)
c.1141A>G
c.1305A>G (p.Glu435=)
c.1178A>G
c.1146A>G (p.Glu382=)
c.481-150A>G
c.984A>G
c.1280A>G
c.1050A>G (p.Glu350=)
n.2141A>G
c.854A>G
c.593-150A>G
c.1050A>G
c.1308A>G (p.Glu436=)
n.1096A>G
c.904A>G
 dbSNP
2g.32136959A>TCA1600881SPASTc.*1064A>T (n.*1064A>T)
c.1404A>T (p.Glu468Asp)
c.1401A>T (p.Glu467Asp)
c.1141A>T
c.1305A>T (p.Glu435Asp)
c.1178A>T
c.1146A>T (p.Glu382Asp)
c.481-150A>T
c.984A>T
c.1280A>T
c.1050A>T (p.Glu350Asp)
n.2141A>T
c.854A>T
c.593-150A>T
c.1050A>T
c.1308A>T (p.Glu436Asp)
n.1096A>T
c.904A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136959_32136960delinsATCA1242501757SPASTc.*1064_*1065delinsAT (n.*1064_*1065delinsAT)
c.1404_1405delinsAT (p.Glu468=)
c.1401_1402delinsAT (p.Glu467=)
c.1141_1142delinsAT
c.1305_1306delinsAT (p.Glu435=)
c.1178_1179delinsAT
c.1146_1147delinsAT (p.Glu382=)
c.481-150_481-149delinsAT
c.984_985delinsAT
c.1280_1281delinsAT
c.1050_1051delinsAT (p.Glu350=)
n.2141_2142delinsAT
c.854_855delinsAT
c.593-150_593-149delinsAT
c.1050_1051delinsAT
c.1308_1309delinsAT (p.Glu436=)
n.1096_1097delinsAT
c.904_905delinsAT
2g.32136960T>ACA346502346SPASTc.*1065T>A (n.*1065T>A)
c.1405T>A (p.Phe469Ile)
c.1402T>A (p.Phe468Ile)
c.1142T>A
c.1306T>A (p.Phe436Ile)
c.1179T>A
c.1147T>A (p.Phe383Ile)
c.481-149T>A
c.985T>A
c.1281T>A
c.1051T>A (p.Phe351Ile)
n.2142T>A
c.855T>A
c.593-149T>A
c.1051T>A
c.1309T>A (p.Phe437Ile)
n.1097T>A
c.905T>A
 COSMIC
2g.32136960T>CCA346502347SPASTc.*1065T>C (n.*1065T>C)
c.1405T>C (p.Phe469Leu)
c.1402T>C (p.Phe468Leu)
c.1142T>C
c.1306T>C (p.Phe436Leu)
c.1179T>C
c.1147T>C (p.Phe383Leu)
c.481-149T>C
c.985T>C
c.1281T>C
c.1051T>C (p.Phe351Leu)
n.2142T>C
c.855T>C
c.593-149T>C
c.1051T>C
c.1309T>C (p.Phe437Leu)
n.1097T>C
c.905T>C
2g.32136960T>GCA346502348SPASTc.*1065T>G (n.*1065T>G)
c.1405T>G (p.Phe469Val)
c.1402T>G (p.Phe468Val)
c.1142T>G
c.1306T>G (p.Phe436Val)
c.1179T>G
c.1147T>G (p.Phe383Val)
c.481-149T>G
c.985T>G
c.1281T>G
c.1051T>G (p.Phe351Val)
n.2142T>G
c.855T>G
c.593-149T>G
c.1051T>G
c.1309T>G (p.Phe437Val)
n.1097T>G
c.905T>G
 ClinVar dbSNP
2g.32136962delCA1139656825SPASTc.*1067del (n.*1067del)
c.1407del (p.Phe469LeufsTer14)
c.1404del (p.Phe468LeufsTer14)
c.1144del
c.1308del (p.Phe436LeufsTer14)
c.1181del
c.1149del (p.Phe383LeufsTer14)
c.481-147del
c.987del
c.1283del
c.1053del (p.Phe351LeufsTer14)
n.2144del
c.857del
c.593-147del
c.1053del
c.1311del (p.Phe437LeufsTer14)
n.1099del
c.907del
 ClinVar dbSNP
2g.32136961T>ACA346502349SPASTc.*1066T>A (n.*1066T>A)
c.1406T>A (p.Phe469Tyr)
c.1403T>A (p.Phe468Tyr)
c.1143T>A
c.1307T>A (p.Phe436Tyr)
c.1180T>A
c.1148T>A (p.Phe383Tyr)
c.481-148T>A
c.986T>A
c.1282T>A
c.1052T>A (p.Phe351Tyr)
n.2143T>A
c.856T>A
c.593-148T>A
c.1052T>A
c.1310T>A (p.Phe437Tyr)
n.1098T>A
c.906T>A
2g.32136961T>CCA346502350SPASTc.*1066T>C (n.*1066T>C)
c.1406T>C (p.Phe469Ser)
c.1403T>C (p.Phe468Ser)
c.1143T>C
c.1307T>C (p.Phe436Ser)
c.1180T>C
c.1148T>C (p.Phe383Ser)
c.481-148T>C
c.986T>C
c.1282T>C
c.1052T>C (p.Phe351Ser)
n.2143T>C
c.856T>C
c.593-148T>C
c.1052T>C
c.1310T>C (p.Phe437Ser)
n.1098T>C
c.906T>C
2g.32136961T>GCA346502351SPASTc.*1066T>G (n.*1066T>G)
c.1406T>G (p.Phe469Cys)
c.1403T>G (p.Phe468Cys)
c.1143T>G
c.1307T>G (p.Phe436Cys)
c.1180T>G
c.1148T>G (p.Phe383Cys)
c.481-148T>G
c.986T>G
c.1282T>G
c.1052T>G (p.Phe351Cys)
n.2143T>G
c.856T>G
c.593-148T>G
c.1052T>G
c.1310T>G (p.Phe437Cys)
n.1098T>G
c.906T>G
2g.32136962T>ACA346502352SPASTc.*1067T>A (n.*1067T>A)
c.1407T>A (p.Phe469Leu)
c.1404T>A (p.Phe468Leu)
c.1144T>A
c.1308T>A (p.Phe436Leu)
c.1181T>A
c.1149T>A (p.Phe383Leu)
c.481-147T>A
c.987T>A
c.1283T>A
c.1053T>A (p.Phe351Leu)
n.2144T>A
c.857T>A
c.593-147T>A
c.1053T>A
c.1311T>A (p.Phe437Leu)
n.1099T>A
c.907T>A
2g.32136962T>CCA425449092SPASTc.*1067T>C (n.*1067T>C)
c.1407T>C (p.Phe469=)
c.1404T>C (p.Phe468=)
c.1144T>C
c.1308T>C (p.Phe436=)
c.1181T>C
c.1149T>C (p.Phe383=)
c.481-147T>C
c.987T>C
c.1283T>C
c.1053T>C (p.Phe351=)
n.2144T>C
c.857T>C
c.593-147T>C
c.1053T>C
c.1311T>C (p.Phe437=)
n.1099T>C
c.907T>C
2g.32136962T>GCA346502353SPASTc.*1067T>G (n.*1067T>G)
c.1407T>G (p.Phe469Leu)
c.1404T>G (p.Phe468Leu)
c.1144T>G
c.1308T>G (p.Phe436Leu)
c.1181T>G
c.1149T>G (p.Phe383Leu)
c.481-147T>G
c.987T>G
c.1283T>G
c.1053T>G (p.Phe351Leu)
n.2144T>G
c.857T>G
c.593-147T>G
c.1053T>G
c.1311T>G (p.Phe437Leu)
n.1099T>G
c.907T>G
2g.32136963G>ACA346502354SPASTc.*1068G>A (n.*1068G>A)
c.1408G>A (p.Asp470Asn)
c.1405G>A (p.Asp469Asn)
c.1145G>A
c.1309G>A (p.Asp437Asn)
c.1182G>A
c.1150G>A (p.Asp384Asn)
c.481-146G>A
c.988G>A
c.1284G>A
c.1054G>A (p.Asp352Asn)
n.2145G>A
c.858G>A
c.593-146G>A
c.1054G>A
c.1312G>A (p.Asp438Asn)
n.1100G>A
c.908G>A
2g.32136963G>CCA346502355SPASTc.*1068G>C (n.*1068G>C)
c.1408G>C (p.Asp470His)
c.1405G>C (p.Asp469His)
c.1145G>C
c.1309G>C (p.Asp437His)
c.1182G>C
c.1150G>C (p.Asp384His)
c.481-146G>C
c.988G>C
c.1284G>C
c.1054G>C (p.Asp352His)
n.2145G>C
c.858G>C
c.593-146G>C
c.1054G>C
c.1312G>C (p.Asp438His)
n.1100G>C
c.908G>C
 ClinVar dbSNP
2g.32136963G=CA1242501772SPASTc.*1068G= (n.*1068G=)
c.1408G= (p.Asp470=)
c.1405G= (p.Asp469=)
c.1145G=
c.1309G= (p.Asp437=)
c.1182G=
c.1150G= (p.Asp384=)
c.481-146G=
c.988G=
c.1284G=
c.1054G= (p.Asp352=)
n.2145G=
c.858G=
c.593-146G=
c.1054G=
c.1312G= (p.Asp438=)
n.1100G=
c.908G=
2g.32136963G>TCA346502356SPASTc.*1068G>T (n.*1068G>T)
c.1408G>T (p.Asp470Tyr)
c.1405G>T (p.Asp469Tyr)
c.1145G>T
c.1309G>T (p.Asp437Tyr)
c.1182G>T
c.1150G>T (p.Asp384Tyr)
c.481-146G>T
c.988G>T
c.1284G>T
c.1054G>T (p.Asp352Tyr)
n.2145G>T
c.858G>T
c.593-146G>T
c.1054G>T
c.1312G>T (p.Asp438Tyr)
n.1100G>T
c.908G>T
 dbSNP
2g.32136964A=CA1242501779SPASTc.*1069A= (n.*1069A=)
c.1409A= (p.Asp470=)
c.1406A= (p.Asp469=)
c.1146A=
c.1310A= (p.Asp437=)
c.1183A=
c.1151A= (p.Asp384=)
c.481-145A=
c.989A=
c.1285A=
c.1055A= (p.Asp352=)
n.2146A=
c.859A=
c.593-145A=
c.1055A=
c.1313A= (p.Asp438=)
n.1101A=
c.909A=
2g.32136964A>CCA346502358SPASTc.*1069A>C (n.*1069A>C)
c.1409A>C (p.Asp470Ala)
c.1406A>C (p.Asp469Ala)
c.1146A>C
c.1310A>C (p.Asp437Ala)
c.1183A>C
c.1151A>C (p.Asp384Ala)
c.481-145A>C
c.989A>C
c.1285A>C
c.1055A>C (p.Asp352Ala)
n.2146A>C
c.859A>C
c.593-145A>C
c.1055A>C
c.1313A>C (p.Asp438Ala)
n.1101A>C
c.909A>C
 ClinVar dbSNP
2g.32136964A>GCA346502357SPASTc.*1069A>G (n.*1069A>G)
c.1409A>G (p.Asp470Gly)
c.1406A>G (p.Asp469Gly)
c.1146A>G
c.1310A>G (p.Asp437Gly)
c.1183A>G
c.1151A>G (p.Asp384Gly)
c.481-145A>G
c.989A>G
c.1285A>G
c.1055A>G (p.Asp352Gly)
n.2146A>G
c.859A>G
c.593-145A>G
c.1055A>G
c.1313A>G (p.Asp438Gly)
n.1101A>G
c.909A>G
 gnomAD v4
2g.32136964A>TCA253564SPASTc.*1069A>T (n.*1069A>T)
c.1409A>T (p.Asp470Val)
c.1406A>T (p.Asp469Val)
c.1146A>T
c.1310A>T (p.Asp437Val)
c.1183A>T
c.1151A>T (p.Asp384Val)
c.481-145A>T
c.989A>T
c.1285A>T
c.1055A>T (p.Asp352Val)
n.2146A>T
c.859A>T
c.593-145A>T
c.1055A>T
c.1313A>T (p.Asp438Val)
n.1101A>T
c.909A>T
 ClinVar dbSNP
2g.32136965T>ACA346502359SPASTc.*1070T>A (n.*1070T>A)
c.1410T>A (p.Asp470Glu)
c.1407T>A (p.Asp469Glu)
c.1147T>A
c.1311T>A (p.Asp437Glu)
c.1184T>A
c.1152T>A (p.Asp384Glu)
c.481-144T>A
c.990T>A
c.1286T>A
c.1056T>A (p.Asp352Glu)
n.2147T>A
c.860T>A
c.593-144T>A
c.1056T>A
c.1314T>A (p.Asp438Glu)
n.1102T>A
c.910T>A
2g.32136965T>CCA1600882SPASTc.*1070T>C (n.*1070T>C)
c.1410T>C (p.Asp470=)
c.1407T>C (p.Asp469=)
c.1147T>C
c.1311T>C (p.Asp437=)
c.1184T>C
c.1152T>C (p.Asp384=)
c.481-144T>C
c.990T>C
c.1286T>C
c.1056T>C (p.Asp352=)
n.2147T>C
c.860T>C
c.593-144T>C
c.1056T>C
c.1314T>C (p.Asp438=)
n.1102T>C
c.910T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136965T>GCA346502360SPASTc.*1070T>G (n.*1070T>G)
c.1410T>G (p.Asp470Glu)
c.1407T>G (p.Asp469Glu)
c.1147T>G
c.1311T>G (p.Asp437Glu)
c.1184T>G
c.1152T>G (p.Asp384Glu)
c.481-144T>G
c.990T>G
c.1286T>G
c.1056T>G (p.Asp352Glu)
n.2147T>G
c.860T>G
c.593-144T>G
c.1056T>G
c.1314T>G (p.Asp438Glu)
n.1102T>G
c.910T>G
2g.32136965T=CA1242501787SPASTc.*1070T= (n.*1070T=)
c.1410T= (p.Asp470=)
c.1407T= (p.Asp469=)
c.1147T=
c.1311T= (p.Asp437=)
c.1184T=
c.1152T= (p.Asp384=)
c.481-144T=
c.990T=
c.1286T=
c.1056T= (p.Asp352=)
n.2147T=
c.860T=
c.593-144T=
c.1056T=
c.1314T= (p.Asp438=)
n.1102T=
c.910T=
2g.32136966G>ACA346502361SPASTc.*1071G>A (n.*1071G>A)
c.1411G>A (p.Gly471Ser)
c.1408G>A (p.Gly470Ser)
c.1148G>A
c.1312G>A (p.Gly438Ser)
c.1185G>A
c.1153G>A (p.Gly385Ser)
c.481-143G>A
c.991G>A
c.1287G>A
c.1057G>A (p.Gly353Ser)
n.2148G>A
c.861G>A
c.593-143G>A
c.1057G>A
c.1315G>A (p.Gly439Ser)
n.1103G>A
c.911G>A
 ClinVar dbSNP
2g.32136966G>CCA346502362SPASTc.*1071G>C (n.*1071G>C)
c.1411G>C (p.Gly471Arg)
c.1408G>C (p.Gly470Arg)
c.1148G>C
c.1312G>C (p.Gly438Arg)
c.1185G>C
c.1153G>C (p.Gly385Arg)
c.481-143G>C
c.991G>C
c.1287G>C
c.1057G>C (p.Gly353Arg)
n.2148G>C
c.861G>C
c.593-143G>C
c.1057G>C
c.1315G>C (p.Gly439Arg)
n.1103G>C
c.911G>C
2g.32136966G=CA1242501793SPASTc.*1071G= (n.*1071G=)
c.1411G= (p.Gly471=)
c.1408G= (p.Gly470=)
c.1148G=
c.1312G= (p.Gly438=)
c.1185G=
c.1153G= (p.Gly385=)
c.481-143G=
c.991G=
c.1287G=
c.1057G= (p.Gly353=)
n.2148G=
c.861G=
c.593-143G=
c.1057G=
c.1315G= (p.Gly439=)
n.1103G=
c.911G=
2g.32136966G>TCA346502363SPASTc.*1071G>T (n.*1071G>T)
c.1411G>T (p.Gly471Cys)
c.1408G>T (p.Gly470Cys)
c.1148G>T
c.1312G>T (p.Gly438Cys)
c.1185G>T
c.1153G>T (p.Gly385Cys)
c.481-143G>T
c.991G>T
c.1287G>T
c.1057G>T (p.Gly353Cys)
n.2148G>T
c.861G>T
c.593-143G>T
c.1057G>T
c.1315G>T (p.Gly439Cys)
n.1103G>T
c.911G>T
 ClinVar dbSNP
2g.32136966_32136968delinsGGTCA1242501794SPASTc.*1071_*1073delinsGGT (n.*1071_*1073delinsGGT)
c.1411_1413delinsGGT (p.Gly471=)
c.1408_1410delinsGGT (p.Gly470=)
c.1148_1150delinsGGT
c.1312_1314delinsGGT (p.Gly438=)
c.1185_1187delinsGGT
c.1153_1155delinsGGT (p.Gly385=)
c.481-143_481-141delinsGGT
c.991_993delinsGGT
c.1287_1289delinsGGT
c.1057_1059delinsGGT (p.Gly353=)
n.2148_2150delinsGGT
c.861_863delinsGGT
c.593-143_593-141delinsGGT
c.1057_1059delinsGGT
c.1315_1317delinsGGT (p.Gly439=)
n.1103_1105delinsGGT
c.911_913delinsGGT
2g.32136967G>ACA346502364SPASTc.*1072G>A (n.*1072G>A)
c.1412G>A (p.Gly471Asp)
c.1409G>A (p.Gly470Asp)
c.1149G>A
c.1313G>A (p.Gly438Asp)
c.1186G>A
c.1154G>A (p.Gly385Asp)
c.481-142G>A
c.992G>A
c.1288G>A
c.1058G>A (p.Gly353Asp)
n.2149G>A
c.862G>A
c.593-142G>A
c.1058G>A
c.1316G>A (p.Gly439Asp)
n.1104G>A
c.912G>A
 ClinVar dbSNP
2g.32136967G>CCA346502365SPASTc.*1072G>C (n.*1072G>C)
c.1412G>C (p.Gly471Ala)
c.1409G>C (p.Gly470Ala)
c.1149G>C
c.1313G>C (p.Gly438Ala)
c.1186G>C
c.1154G>C (p.Gly385Ala)
c.481-142G>C
c.992G>C
c.1288G>C
c.1058G>C (p.Gly353Ala)
n.2149G>C
c.862G>C
c.593-142G>C
c.1058G>C
c.1316G>C (p.Gly439Ala)
n.1104G>C
c.912G>C
 COSMIC
2g.32136967G=CA1242501800SPASTc.*1072G= (n.*1072G=)
c.1412G= (p.Gly471=)
c.1409G= (p.Gly470=)
c.1149G=
c.1313G= (p.Gly438=)
c.1186G=
c.1154G= (p.Gly385=)
c.481-142G=
c.992G=
c.1288G=
c.1058G= (p.Gly353=)
n.2149G=
c.862G=
c.593-142G=
c.1058G=
c.1316G= (p.Gly439=)
n.1104G=
c.912G=
2g.32136967G>TCA346502366SPASTc.*1072G>T (n.*1072G>T)
c.1412G>T (p.Gly471Val)
c.1409G>T (p.Gly470Val)
c.1149G>T
c.1313G>T (p.Gly438Val)
c.1186G>T
c.1154G>T (p.Gly385Val)
c.481-142G>T
c.992G>T
c.1288G>T
c.1058G>T (p.Gly353Val)
n.2149G>T
c.862G>T
c.593-142G>T
c.1058G>T
c.1316G>T (p.Gly439Val)
n.1104G>T
c.912G>T
2g.32136967_32136968delinsACCA2586964768SPASTc.*1072_*1073delinsAC (n.*1072_*1073delinsAC)
c.1412_1413delinsAC (p.Gly471Asp)
c.1409_1410delinsAC (p.Gly470Asp)
c.1149_1150delinsAC
c.1313_1314delinsAC (p.Gly438Asp)
c.1186_1187delinsAC
c.1154_1155delinsAC (p.Gly385Asp)
c.481-142_481-141delinsAC
c.992_993delinsAC
c.1288_1289delinsAC
c.1058_1059delinsAC (p.Gly353Asp)
n.2149_2150delinsAC
c.862_863delinsAC
c.593-142_593-141delinsAC
c.1058_1059delinsAC
c.1316_1317delinsAC (p.Gly439Asp)
n.1104_1105delinsAC
c.912_913delinsAC
2g.32136969_32136970delCA1242501799SPASTc.*1073+1_*1073+2del
c.1413+1_1413+2del
c.1410+1_1410+2del
c.1150+1_1150+2del
c.1314+1_1314+2del
c.1187+1_1187+2del
c.1155+1_1155+2del
c.481-140_481-139del
c.993+1_993+2del
c.1289+1_1289+2del
c.1059+1_1059+2del
n.2150+1_2150+2del
c.863+1_863+2del
c.593-140_593-139del
c.1317+1_1317+2del
n.1105+1_1105+2del
c.913+1_913+2del
 ClinVar dbSNP
2g.32136968T>ACA425449098SPASTc.*1073T>A (n.*1073T>A)
c.1413T>A (p.Gly471=)
c.1410T>A (p.Gly470=)
c.1150T>A
c.1314T>A (p.Gly438=)
c.1187T>A
c.1155T>A (p.Gly385=)
c.481-141T>A
c.993T>A
c.1289T>A
c.1059T>A (p.Gly353=)
n.2150T>A
c.863T>A
c.593-141T>A
c.1059T>A
c.1317T>A (p.Gly439=)
n.1105T>A
c.913T>A
2g.32136968T>CCA425449097SPASTc.*1073T>C (n.*1073T>C)
c.1413T>C (p.Gly471=)
c.1410T>C (p.Gly470=)
c.1150T>C
c.1314T>C (p.Gly438=)
c.1187T>C
c.1155T>C (p.Gly385=)
c.481-141T>C
c.993T>C
c.1289T>C
c.1059T>C (p.Gly353=)
n.2150T>C
c.863T>C
c.593-141T>C
c.1059T>C
c.1317T>C (p.Gly439=)
n.1105T>C
c.913T>C
2g.32136968T>GCA425449096SPASTc.*1073T>G (n.*1073T>G)
c.1413T>G (p.Gly471=)
c.1410T>G (p.Gly470=)
c.1150T>G
c.1314T>G (p.Gly438=)
c.1187T>G
c.1155T>G (p.Gly385=)
c.481-141T>G
c.993T>G
c.1289T>G
c.1059T>G (p.Gly353=)
n.2150T>G
c.863T>G
c.593-141T>G
c.1059T>G
c.1317T>G (p.Gly439=)
n.1105T>G
c.913T>G
 gnomAD v4
2g.32136968dupCA2586964769SPASTc.*1073dup (n.*1073dup)
c.1413dup (p.Val472CysfsTer7)
c.1410dup (p.Val471CysfsTer7)
c.1150dup
c.1314dup (p.Val439CysfsTer7)
c.1187dup
c.1155dup (p.Val386CysfsTer7)
c.481-141dup
c.993dup
c.1289dup
c.1059dup (p.Val354CysfsTer7)
n.2150dup
c.863dup
c.593-141dup
c.1059dup
c.1317dup (p.Val440CysfsTer7)
n.1105dup
c.913dup
2g.32136968_32136972delinsTGTAACA1242501806SPASTc.*1073_*1073+4delinsTGTAA
c.1413_1413+4delinsTGTAA
c.1410_1410+4delinsTGTAA
c.1150_1150+4delinsTGTAA
c.1314_1314+4delinsTGTAA
c.1187_1187+4delinsTGTAA
c.1155_1155+4delinsTGTAA
c.481-141_481-137delinsTGTAA
c.993_993+4delinsTGTAA
c.1289_1289+4delinsTGTAA
c.1059_1059+4delinsTGTAA
n.2150_2150+4delinsTGTAA
c.863_863+4delinsTGTAA
c.593-141_593-137delinsTGTAA
c.1317_1317+4delinsTGTAA
n.1105_1105+4delinsTGTAA
c.913_913+4delinsTGTAA
2g.32136969G>ACA346502367SPASTc.*1073+1G>A (n.*1073+1G>A)
c.1413+1G>A (n.1413+1G>A)
c.1410+1G>A (n.1410+1G>A)
c.1150+1G>A
c.1314+1G>A (n.1314+1G>A)
c.1187+1G>A
c.1155+1G>A (n.1155+1G>A)
c.481-140G>A
c.993+1G>A
c.1289+1G>A
c.1059+1G>A (n.1059+1G>A)
n.2150+1G>A
c.863+1G>A
c.593-140G>A
c.1059+1G>A
c.1317+1G>A (n.1317+1G>A)
n.1105+1G>A
c.913+1G>A
 ClinVar dbSNP
2g.32136969G>CCA346502368SPASTc.*1073+1G>C (n.*1073+1G>C)
c.1413+1G>C (n.1413+1G>C)
c.1410+1G>C (n.1410+1G>C)
c.1150+1G>C
c.1314+1G>C (n.1314+1G>C)
c.1187+1G>C
c.1155+1G>C (n.1155+1G>C)
c.481-140G>C
c.993+1G>C
c.1289+1G>C
c.1059+1G>C (n.1059+1G>C)
n.2150+1G>C
c.863+1G>C
c.593-140G>C
c.1059+1G>C
c.1317+1G>C (n.1317+1G>C)
n.1105+1G>C
c.913+1G>C
2g.32136969G=CA1242501820SPASTc.*1073+1G= (n.*1073+1G=)
c.1413+1G= (n.1413+1G=)
c.1410+1G= (n.1410+1G=)
c.1150+1G=
c.1314+1G= (n.1314+1G=)
c.1187+1G=
c.1155+1G= (n.1155+1G=)
c.481-140G=
c.993+1G=
c.1289+1G=
c.1059+1G= (n.1059+1G=)
n.2150+1G=
c.863+1G=
c.593-140G=
c.1059+1G=
c.1317+1G= (n.1317+1G=)
n.1105+1G=
c.913+1G=
2g.32136969G>TCA346502369SPASTc.*1073+1G>T (n.*1073+1G>T)
c.1413+1G>T (n.1413+1G>T)
c.1410+1G>T (n.1410+1G>T)
c.1150+1G>T
c.1314+1G>T (n.1314+1G>T)
c.1187+1G>T
c.1155+1G>T (n.1155+1G>T)
c.481-140G>T
c.993+1G>T
c.1289+1G>T
c.1059+1G>T (n.1059+1G>T)
n.2150+1G>T
c.863+1G>T
c.593-140G>T
c.1059+1G>T
c.1317+1G>T (n.1317+1G>T)
n.1105+1G>T
c.913+1G>T
 ClinVar dbSNP
2g.32136971_32136974delCA44749914SPASTc.*1073+3_*1073+6del (n.*1073+3_*1073+6del)
c.1413+3_1413+6del (n.1413+3_1413+6del)
c.1410+3_1410+6del (n.1410+3_1410+6del)
c.1150+3_1150+6del
c.1314+3_1314+6del (n.1314+3_1314+6del)
c.1187+3_1187+6del
c.1155+3_1155+6del (n.1155+3_1155+6del)
c.481-138_481-135del
c.993+3_993+6del
c.1289+3_1289+6del
c.1059+3_1059+6del (n.1059+3_1059+6del)
n.2150+3_2150+6del
c.863+3_863+6del
c.593-138_593-135del
c.1059+3_1059+6del
c.1317+3_1317+6del (n.1317+3_1317+6del)
n.1105+3_1105+6del
c.913+3_913+6del
 ClinVar dbSNP
2g.32136970T>ACA346502371SPASTc.*1073+2T>A (n.*1073+2T>A)
c.1413+2T>A (n.1413+2T>A)
c.1410+2T>A (n.1410+2T>A)
c.1150+2T>A
c.1314+2T>A (n.1314+2T>A)
c.1187+2T>A
c.1155+2T>A (n.1155+2T>A)
c.481-139T>A
c.993+2T>A
c.1289+2T>A
c.1059+2T>A (n.1059+2T>A)
n.2150+2T>A
c.863+2T>A
c.593-139T>A
c.1059+2T>A
c.1317+2T>A (n.1317+2T>A)
n.1105+2T>A
c.913+2T>A
2g.32136970T>CCA346502372SPASTc.*1073+2T>C (n.*1073+2T>C)
c.1413+2T>C (n.1413+2T>C)
c.1410+2T>C (n.1410+2T>C)
c.1150+2T>C
c.1314+2T>C (n.1314+2T>C)
c.1187+2T>C
c.1155+2T>C (n.1155+2T>C)
c.481-139T>C
c.993+2T>C
c.1289+2T>C
c.1059+2T>C (n.1059+2T>C)
n.2150+2T>C
c.863+2T>C
c.593-139T>C
c.1059+2T>C
c.1317+2T>C (n.1317+2T>C)
n.1105+2T>C
c.913+2T>C
2g.32136970T>GCA346502370SPASTc.*1073+2T>G (n.*1073+2T>G)
c.1413+2T>G (n.1413+2T>G)
c.1410+2T>G (n.1410+2T>G)
c.1150+2T>G
c.1314+2T>G (n.1314+2T>G)
c.1187+2T>G
c.1155+2T>G (n.1155+2T>G)
c.481-139T>G
c.993+2T>G
c.1289+2T>G
c.1059+2T>G (n.1059+2T>G)
n.2150+2T>G
c.863+2T>G
c.593-139T>G
c.1059+2T>G
c.1317+2T>G (n.1317+2T>G)
n.1105+2T>G
c.913+2T>G
 dbSNP
2g.32136970T=CA1242501833SPASTc.*1073+2T= (n.*1073+2T=)
c.1413+2T= (n.1413+2T=)
c.1410+2T= (n.1410+2T=)
c.1150+2T=
c.1314+2T= (n.1314+2T=)
c.1187+2T=
c.1155+2T= (n.1155+2T=)
c.481-139T=
c.993+2T=
c.1289+2T=
c.1059+2T= (n.1059+2T=)
n.2150+2T=
c.863+2T=
c.593-139T=
c.1059+2T=
c.1317+2T= (n.1317+2T=)
n.1105+2T=
c.913+2T=
2g.32136970dupCA253559SPASTc.*1073+2dup (n.*1073+2dup)
c.1413+2dup (n.1413+2dup)
c.1410+2dup (n.1410+2dup)
c.1150+2dup
c.1314+2dup (n.1314+2dup)
c.1187+2dup
c.1155+2dup (n.1155+2dup)
c.481-139dup
c.993+2dup
c.1289+2dup
c.1059+2dup (n.1059+2dup)
n.2150+2dup
c.863+2dup
c.593-139dup
c.1059+2dup
c.1317+2dup (n.1317+2dup)
n.1105+2dup
c.913+2dup
 ClinVar dbSNP
2g.32136971A>CCA2586964772SPASTc.*1073+3A>C (n.*1073+3A>C)
c.1413+3A>C (n.1413+3A>C)
c.1410+3A>C (n.1410+3A>C)
c.1150+3A>C
c.1314+3A>C (n.1314+3A>C)
c.1187+3A>C
c.1155+3A>C (n.1155+3A>C)
c.481-138A>C
c.993+3A>C
c.1289+3A>C
c.1059+3A>C (n.1059+3A>C)
n.2150+3A>C
c.863+3A>C
c.593-138A>C
c.1059+3A>C
c.1317+3A>C (n.1317+3A>C)
n.1105+3A>C
c.913+3A>C
2g.32136972A>GCA2586964773SPASTc.*1073+4A>G (n.*1073+4A>G)
c.1413+4A>G (n.1413+4A>G)
c.1410+4A>G (n.1410+4A>G)
c.1150+4A>G
c.1314+4A>G (n.1314+4A>G)
c.1187+4A>G
c.1155+4A>G (n.1155+4A>G)
c.481-137A>G
c.993+4A>G
c.1289+4A>G
c.1059+4A>G (n.1059+4A>G)
n.2150+4A>G
c.863+4A>G
c.593-137A>G
c.1059+4A>G
c.1317+4A>G (n.1317+4A>G)
n.1105+4A>G
c.913+4A>G
2g.32136973G>ACA891843422SPASTc.*1073+5G>A (n.*1073+5G>A)
c.1413+5G>A (n.1413+5G>A)
c.1410+5G>A (n.1410+5G>A)
c.1150+5G>A
c.1314+5G>A (n.1314+5G>A)
c.1187+5G>A
c.1155+5G>A (n.1155+5G>A)
c.481-136G>A
c.993+5G>A
c.1289+5G>A
c.1059+5G>A (n.1059+5G>A)
n.2150+5G>A
c.863+5G>A
c.593-136G>A
c.1059+5G>A
c.1317+5G>A (n.1317+5G>A)
n.1105+5G>A
c.913+5G>A
 ClinVar dbSNP
2g.32136973G>CCA658657026SPASTc.*1073+5G>C (n.*1073+5G>C)
c.1413+5G>C (n.1413+5G>C)
c.1410+5G>C (n.1410+5G>C)
c.1150+5G>C
c.1314+5G>C (n.1314+5G>C)
c.1187+5G>C
c.1155+5G>C (n.1155+5G>C)
c.481-136G>C
c.993+5G>C
c.1289+5G>C
c.1059+5G>C (n.1059+5G>C)
n.2150+5G>C
c.863+5G>C
c.593-136G>C
c.1059+5G>C
c.1317+5G>C (n.1317+5G>C)
n.1105+5G>C
c.913+5G>C
 ClinVar dbSNP
2g.32136973G=CA1242501839SPASTc.*1073+5G= (n.*1073+5G=)
c.1413+5G= (n.1413+5G=)
c.1410+5G= (n.1410+5G=)
c.1150+5G=
c.1314+5G= (n.1314+5G=)
c.1187+5G=
c.1155+5G= (n.1155+5G=)
c.481-136G=
c.993+5G=
c.1289+5G=
c.1059+5G= (n.1059+5G=)
n.2150+5G=
c.863+5G=
c.593-136G=
c.1059+5G=
c.1317+5G= (n.1317+5G=)
n.1105+5G=
c.913+5G=
2g.32136974T>CCA1242501846SPASTc.*1073+6T>C (n.*1073+6T>C)
c.1413+6T>C (n.1413+6T>C)
c.1410+6T>C (n.1410+6T>C)
c.1150+6T>C
c.1314+6T>C (n.1314+6T>C)
c.1187+6T>C
c.1155+6T>C (n.1155+6T>C)
c.481-135T>C
c.993+6T>C
c.1289+6T>C
c.1059+6T>C (n.1059+6T>C)
n.2150+6T>C
c.863+6T>C
c.593-135T>C
c.1059+6T>C
c.1317+6T>C (n.1317+6T>C)
n.1105+6T>C
c.913+6T>C
 ClinVar dbSNP
2g.32136974T>GCA2573134505SPASTc.*1073+6T>G (n.*1073+6T>G)
c.1413+6T>G (n.1413+6T>G)
c.1410+6T>G (n.1410+6T>G)
c.1150+6T>G
c.1314+6T>G (n.1314+6T>G)
c.1187+6T>G
c.1155+6T>G (n.1155+6T>G)
c.481-135T>G
c.993+6T>G
c.1289+6T>G
c.1059+6T>G (n.1059+6T>G)
n.2150+6T>G
c.863+6T>G
c.593-135T>G
c.1059+6T>G
c.1317+6T>G (n.1317+6T>G)
n.1105+6T>G
c.913+6T>G
 ClinVar dbSNP
2g.32136974T=CA1242501845SPASTc.*1073+6T= (n.*1073+6T=)
c.1413+6T= (n.1413+6T=)
c.1410+6T= (n.1410+6T=)
c.1150+6T=
c.1314+6T= (n.1314+6T=)
c.1187+6T=
c.1155+6T= (n.1155+6T=)
c.481-135T=
c.993+6T=
c.1289+6T=
c.1059+6T= (n.1059+6T=)
n.2150+6T=
c.863+6T=
c.593-135T=
c.1059+6T=
c.1317+6T= (n.1317+6T=)
n.1105+6T=
c.913+6T=
2g.32136975G>ACA531501864SPASTc.*1073+7G>A (n.*1073+7G>A)
c.1413+7G>A (n.1413+7G>A)
c.1410+7G>A (n.1410+7G>A)
c.1150+7G>A
c.1314+7G>A (n.1314+7G>A)
c.1187+7G>A
c.1155+7G>A (n.1155+7G>A)
c.481-134G>A
c.993+7G>A
c.1289+7G>A
c.1059+7G>A (n.1059+7G>A)
n.2150+7G>A
c.863+7G>A
c.593-134G>A
c.1059+7G>A
c.1317+7G>A (n.1317+7G>A)
n.1105+7G>A
c.913+7G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32136975G=CA1242501849SPASTc.*1073+7G= (n.*1073+7G=)
c.1413+7G= (n.1413+7G=)
c.1410+7G= (n.1410+7G=)
c.1150+7G=
c.1314+7G= (n.1314+7G=)
c.1187+7G=
c.1155+7G= (n.1155+7G=)
c.481-134G=
c.993+7G=
c.1289+7G=
c.1059+7G= (n.1059+7G=)
n.2150+7G=
c.863+7G=
c.593-134G=
c.1059+7G=
c.1317+7G= (n.1317+7G=)
n.1105+7G=
c.913+7G=
2g.32136975_32136979delinsGTTGACA1242501848SPASTc.*1073+7_*1073+11delinsGTTGA (n.*1073+7_*1073+11delinsGTTGA)
c.1413+7_1413+11delinsGTTGA (n.1413+7_1413+11delinsGTTGA)
c.1410+7_1410+11delinsGTTGA (n.1410+7_1410+11delinsGTTGA)
c.1150+7_1150+11delinsGTTGA
c.1314+7_1314+11delinsGTTGA (n.1314+7_1314+11delinsGTTGA)
c.1187+7_1187+11delinsGTTGA
c.1155+7_1155+11delinsGTTGA (n.1155+7_1155+11delinsGTTGA)
c.481-134_481-130delinsGTTGA
c.993+7_993+11delinsGTTGA
c.1289+7_1289+11delinsGTTGA
c.1059+7_1059+11delinsGTTGA (n.1059+7_1059+11delinsGTTGA)
n.2150+7_2150+11delinsGTTGA
c.863+7_863+11delinsGTTGA
c.593-134_593-130delinsGTTGA
c.1059+7_1059+11delinsGTTGA
c.1317+7_1317+11delinsGTTGA (n.1317+7_1317+11delinsGTTGA)
n.1105+7_1105+11delinsGTTGA
c.913+7_913+11delinsGTTGA
2g.32136978_32136981delCA1600883SPASTc.*1073+10_*1073+13del (n.*1073+10_*1073+13del)
c.1413+10_1413+13del (n.1413+10_1413+13del)
c.1410+10_1410+13del (n.1410+10_1410+13del)
c.1150+10_1150+13del
c.1314+10_1314+13del (n.1314+10_1314+13del)
c.1187+10_1187+13del
c.1155+10_1155+13del (n.1155+10_1155+13del)
c.481-131_481-128del
c.993+10_993+13del
c.1289+10_1289+13del
c.1059+10_1059+13del (n.1059+10_1059+13del)
n.2150+10_2150+13del
c.863+10_863+13del
c.593-131_593-128del
c.1059+10_1059+13del
c.1317+10_1317+13del (n.1317+10_1317+13del)
n.1105+10_1105+13del
c.913+10_913+13del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136977T>GCA1600884SPASTc.*1073+9T>G (n.*1073+9T>G)
c.1413+9T>G (n.1413+9T>G)
c.1410+9T>G (n.1410+9T>G)
c.1150+9T>G
c.1314+9T>G (n.1314+9T>G)
c.1187+9T>G
c.1155+9T>G (n.1155+9T>G)
c.481-132T>G
c.993+9T>G
c.1289+9T>G
c.1059+9T>G (n.1059+9T>G)
n.2150+9T>G
c.863+9T>G
c.593-132T>G
c.1059+9T>G
c.1317+9T>G (n.1317+9T>G)
n.1105+9T>G
c.913+9T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136977T=CA1242501851SPASTc.*1073+9T= (n.*1073+9T=)
c.1413+9T= (n.1413+9T=)
c.1410+9T= (n.1410+9T=)
c.1150+9T=
c.1314+9T= (n.1314+9T=)
c.1187+9T=
c.1155+9T= (n.1155+9T=)
c.481-132T=
c.993+9T=
c.1289+9T=
c.1059+9T= (n.1059+9T=)
n.2150+9T=
c.863+9T=
c.593-132T=
c.1059+9T=
c.1317+9T= (n.1317+9T=)
n.1105+9T=
c.913+9T=
2g.32136978G>ACA2573134506SPASTc.*1073+10G>A (n.*1073+10G>A)
c.1413+10G>A (n.1413+10G>A)
c.1410+10G>A (n.1410+10G>A)
c.1150+10G>A
c.1314+10G>A (n.1314+10G>A)
c.1187+10G>A
c.1155+10G>A (n.1155+10G>A)
c.481-131G>A
c.993+10G>A
c.1289+10G>A
c.1059+10G>A (n.1059+10G>A)
n.2150+10G>A
c.863+10G>A
c.593-131G>A
c.1059+10G>A
c.1317+10G>A (n.1317+10G>A)
n.1105+10G>A
c.913+10G>A
 ClinVar dbSNP gnomAD v4
2g.32136978G>TCA2658529248SPASTc.*1073+10G>T (n.*1073+10G>T)
c.1413+10G>T (n.1413+10G>T)
c.1410+10G>T (n.1410+10G>T)
c.1150+10G>T
c.1314+10G>T (n.1314+10G>T)
c.1187+10G>T
c.1155+10G>T (n.1155+10G>T)
c.481-131G>T
c.993+10G>T
c.1289+10G>T
c.1059+10G>T (n.1059+10G>T)
n.2150+10G>T
c.863+10G>T
c.593-131G>T
c.1059+10G>T
c.1317+10G>T (n.1317+10G>T)
n.1105+10G>T
c.913+10G>T
 gnomAD v4
2g.32136979A>CCA2576930443SPASTc.*1073+11A>C (n.*1073+11A>C)
c.1413+11A>C (n.1413+11A>C)
c.1410+11A>C (n.1410+11A>C)
c.1150+11A>C
c.1314+11A>C (n.1314+11A>C)
c.1187+11A>C
c.1155+11A>C (n.1155+11A>C)
c.481-130A>C
c.993+11A>C
c.1289+11A>C
c.1059+11A>C (n.1059+11A>C)
n.2150+11A>C
c.863+11A>C
c.593-130A>C
c.1059+11A>C
c.1317+11A>C (n.1317+11A>C)
n.1105+11A>C
c.913+11A>C
2g.32136980T>CCA2576930444SPASTc.*1073+12T>C (n.*1073+12T>C)
c.1413+12T>C (n.1413+12T>C)
c.1410+12T>C (n.1410+12T>C)
c.1150+12T>C
c.1314+12T>C (n.1314+12T>C)
c.1187+12T>C
c.1155+12T>C (n.1155+12T>C)
c.481-129T>C
c.993+12T>C
c.1289+12T>C
c.1059+12T>C (n.1059+12T>C)
n.2150+12T>C
c.863+12T>C
c.593-129T>C
c.1059+12T>C
c.1317+12T>C (n.1317+12T>C)
n.1105+12T>C
c.913+12T>C
 gnomAD v4
2g.32136981delCA2658529249SPASTc.*1073+13del (n.*1073+13del)
c.1413+13del (n.1413+13del)
c.1410+13del (n.1410+13del)
c.1150+13del
c.1314+13del (n.1314+13del)
c.1187+13del
c.1155+13del (n.1155+13del)
c.481-128del
c.993+13del
c.1289+13del
c.1059+13del (n.1059+13del)
n.2150+13del
c.863+13del
c.593-128del
c.1059+13del
c.1317+13del (n.1317+13del)
n.1105+13del
c.913+13del
 gnomAD v4
2g.32136982A=CA1242501855SPASTc.*1073+14A= (n.*1073+14A=)
c.1413+14A= (n.1413+14A=)
c.1410+14A= (n.1410+14A=)
c.1150+14A=
c.1314+14A= (n.1314+14A=)
c.1187+14A=
c.1155+14A= (n.1155+14A=)
c.481-127A=
c.993+14A=
c.1289+14A=
c.1059+14A= (n.1059+14A=)
n.2150+14A=
c.863+14A=
c.593-127A=
c.1059+14A=
c.1317+14A= (n.1317+14A=)
n.1105+14A=
c.913+14A=
2g.32136982A>TCA1600885SPASTc.*1073+14A>T (n.*1073+14A>T)
c.1413+14A>T (n.1413+14A>T)
c.1410+14A>T (n.1410+14A>T)
c.1150+14A>T
c.1314+14A>T (n.1314+14A>T)
c.1187+14A>T
c.1155+14A>T (n.1155+14A>T)
c.481-127A>T
c.993+14A>T
c.1289+14A>T
c.1059+14A>T (n.1059+14A>T)
n.2150+14A>T
c.863+14A>T
c.593-127A>T
c.1059+14A>T
c.1317+14A>T (n.1317+14A>T)
n.1105+14A>T
c.913+14A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136984_32136986delCA2658529250SPASTc.*1073+16_*1073+18del (n.*1073+16_*1073+18del)
c.1413+16_1413+18del (n.1413+16_1413+18del)
c.1410+16_1410+18del (n.1410+16_1410+18del)
c.1150+16_1150+18del
c.1314+16_1314+18del (n.1314+16_1314+18del)
c.1187+16_1187+18del
c.1155+16_1155+18del (n.1155+16_1155+18del)
c.481-125_481-123del
c.993+16_993+18del
c.1289+16_1289+18del
c.1059+16_1059+18del (n.1059+16_1059+18del)
n.2150+16_2150+18del
c.863+16_863+18del
c.593-125_593-123del
c.1059+16_1059+18del
c.1317+16_1317+18del (n.1317+16_1317+18del)
n.1105+16_1105+18del
c.913+16_913+18del
 gnomAD v4
2g.32136984G>ACA531501865SPASTc.*1073+16G>A (n.*1073+16G>A)
c.1413+16G>A (n.1413+16G>A)
c.1410+16G>A (n.1410+16G>A)
c.1150+16G>A
c.1314+16G>A (n.1314+16G>A)
c.1187+16G>A
c.1155+16G>A (n.1155+16G>A)
c.481-125G>A
c.993+16G>A
c.1289+16G>A
c.1059+16G>A (n.1059+16G>A)
n.2150+16G>A
c.863+16G>A
c.593-125G>A
c.1059+16G>A
c.1317+16G>A (n.1317+16G>A)
n.1105+16G>A
c.913+16G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32136984G=CA1242501858SPASTc.*1073+16G= (n.*1073+16G=)
c.1413+16G= (n.1413+16G=)
c.1410+16G= (n.1410+16G=)
c.1150+16G=
c.1314+16G= (n.1314+16G=)
c.1187+16G=
c.1155+16G= (n.1155+16G=)
c.481-125G=
c.993+16G=
c.1289+16G=
c.1059+16G= (n.1059+16G=)
n.2150+16G=
c.863+16G=
c.593-125G=
c.1059+16G=
c.1317+16G= (n.1317+16G=)
n.1105+16G=
c.913+16G=
2g.32136984G>TCA531501866SPASTc.*1073+16G>T (n.*1073+16G>T)
c.1413+16G>T (n.1413+16G>T)
c.1410+16G>T (n.1410+16G>T)
c.1150+16G>T
c.1314+16G>T (n.1314+16G>T)
c.1187+16G>T
c.1155+16G>T (n.1155+16G>T)
c.481-125G>T
c.993+16G>T
c.1289+16G>T
c.1059+16G>T (n.1059+16G>T)
n.2150+16G>T
c.863+16G>T
c.593-125G>T
c.1059+16G>T
c.1317+16G>T (n.1317+16G>T)
n.1105+16G>T
c.913+16G>T
 dbSNP gnomAD v2 gnomAD v4
2g.32136985A>CCA2658529251SPASTc.*1073+17A>C (n.*1073+17A>C)
c.1413+17A>C (n.1413+17A>C)
c.1410+17A>C (n.1410+17A>C)
c.1150+17A>C
c.1314+17A>C (n.1314+17A>C)
c.1187+17A>C
c.1155+17A>C (n.1155+17A>C)
c.481-124A>C
c.993+17A>C
c.1289+17A>C
c.1059+17A>C (n.1059+17A>C)
n.2150+17A>C
c.863+17A>C
c.593-124A>C
c.1059+17A>C
c.1317+17A>C (n.1317+17A>C)
n.1105+17A>C
c.913+17A>C
 gnomAD v4
2g.32136985A>GCA2658529252SPASTc.*1073+17A>G (n.*1073+17A>G)
c.1413+17A>G (n.1413+17A>G)
c.1410+17A>G (n.1410+17A>G)
c.1150+17A>G
c.1314+17A>G (n.1314+17A>G)
c.1187+17A>G
c.1155+17A>G (n.1155+17A>G)
c.481-124A>G
c.993+17A>G
c.1289+17A>G
c.1059+17A>G (n.1059+17A>G)
n.2150+17A>G
c.863+17A>G
c.593-124A>G
c.1059+17A>G
c.1317+17A>G (n.1317+17A>G)
n.1105+17A>G
c.913+17A>G
 gnomAD v4
2g.32136986_32136987delinsTACA1242501860SPASTc.*1073+18_*1073+19delinsTA (n.*1073+18_*1073+19delinsTA)
c.1413+18_1413+19delinsTA (n.1413+18_1413+19delinsTA)
c.1410+18_1410+19delinsTA (n.1410+18_1410+19delinsTA)
c.1150+18_1150+19delinsTA
c.1314+18_1314+19delinsTA (n.1314+18_1314+19delinsTA)
c.1187+18_1187+19delinsTA
c.1155+18_1155+19delinsTA (n.1155+18_1155+19delinsTA)
c.481-123_481-122delinsTA
c.993+18_993+19delinsTA
c.1289+18_1289+19delinsTA
c.1059+18_1059+19delinsTA (n.1059+18_1059+19delinsTA)
n.2150+18_2150+19delinsTA
c.863+18_863+19delinsTA
c.593-123_593-122delinsTA
c.1059+18_1059+19delinsTA
c.1317+18_1317+19delinsTA (n.1317+18_1317+19delinsTA)
n.1105+18_1105+19delinsTA
c.913+18_913+19delinsTA
2g.32136987delCA1242501861SPASTc.*1073+19del (n.*1073+19del)
c.1413+19del (n.1413+19del)
c.1410+19del (n.1410+19del)
c.1150+19del
c.1314+19del (n.1314+19del)
c.1187+19del
c.1155+19del (n.1155+19del)
c.481-122del
c.993+19del
c.1289+19del
c.1059+19del (n.1059+19del)
n.2150+19del
c.863+19del
c.593-122del
c.1059+19del
c.1317+19del (n.1317+19del)
n.1105+19del
c.913+19del
 dbSNP gnomAD v4
2g.32136988T>CCA1242501863SPASTc.*1073+20T>C (n.*1073+20T>C)
c.1413+20T>C (n.1413+20T>C)
c.1410+20T>C (n.1410+20T>C)
c.1150+20T>C
c.1314+20T>C (n.1314+20T>C)
c.1187+20T>C
c.1155+20T>C (n.1155+20T>C)
c.481-121T>C
c.993+20T>C
c.1289+20T>C
c.1059+20T>C (n.1059+20T>C)
n.2150+20T>C
c.863+20T>C
c.593-121T>C
c.1059+20T>C
c.1317+20T>C (n.1317+20T>C)
n.1105+20T>C
c.913+20T>C
 dbSNP gnomAD v4
2g.32136988T=CA1242501862SPASTc.*1073+20T= (n.*1073+20T=)
c.1413+20T= (n.1413+20T=)
c.1410+20T= (n.1410+20T=)
c.1150+20T=
c.1314+20T= (n.1314+20T=)
c.1187+20T=
c.1155+20T= (n.1155+20T=)
c.481-121T=
c.993+20T=
c.1289+20T=
c.1059+20T= (n.1059+20T=)
n.2150+20T=
c.863+20T=
c.593-121T=
c.1059+20T=
c.1317+20T= (n.1317+20T=)
n.1105+20T=
c.913+20T=
2g.32136991T>CCA531501867SPASTc.*1073+23T>C (n.*1073+23T>C)
c.1413+23T>C (n.1413+23T>C)
c.1410+23T>C (n.1410+23T>C)
c.1150+23T>C
c.1314+23T>C (n.1314+23T>C)
c.1187+23T>C
c.1155+23T>C (n.1155+23T>C)
c.481-118T>C
c.993+23T>C
c.1289+23T>C
c.1059+23T>C (n.1059+23T>C)
n.2150+23T>C
c.863+23T>C
c.593-118T>C
c.1059+23T>C
c.1317+23T>C (n.1317+23T>C)
n.1105+23T>C
c.913+23T>C
 dbSNP gnomAD v2 gnomAD v4
2g.32136991T=CA1242501865SPASTc.*1073+23T= (n.*1073+23T=)
c.1413+23T= (n.1413+23T=)
c.1410+23T= (n.1410+23T=)
c.1150+23T=
c.1314+23T= (n.1314+23T=)
c.1187+23T=
c.1155+23T= (n.1155+23T=)
c.481-118T=
c.993+23T=
c.1289+23T=
c.1059+23T= (n.1059+23T=)
n.2150+23T=
c.863+23T=
c.593-118T=
c.1059+23T=
c.1317+23T= (n.1317+23T=)
n.1105+23T=
c.913+23T=
2g.32136992T>ACA2658529253SPASTc.*1073+24T>A (n.*1073+24T>A)
c.1413+24T>A (n.1413+24T>A)
c.1410+24T>A (n.1410+24T>A)
c.1150+24T>A
c.1314+24T>A (n.1314+24T>A)
c.1187+24T>A
c.1155+24T>A (n.1155+24T>A)
c.481-117T>A
c.993+24T>A
c.1289+24T>A
c.1059+24T>A (n.1059+24T>A)
n.2150+24T>A
c.863+24T>A
c.593-117T>A
c.1059+24T>A
c.1317+24T>A (n.1317+24T>A)
n.1105+24T>A
c.913+24T>A
 gnomAD v4

Number of alleles fetched