Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.32133666_32137711dup | CA10575837 | SPAST | c.*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 |
2 | g.32133667_32137711dup | CA10575495 | SPAST | c.*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 |
2 | g.32136885_32136904del | CA2573134501 | SPAST | c.*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 |
2 | g.32136902A>C | CA346502215 | SPAST | c.*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 | |
2 | g.32136902A>G | CA425448956 | SPAST | c.*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 |
2 | g.32136902A>T | CA346502216 | SPAST | c.*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 | |
2 | g.32136906_32136908del | CA2586964756 | SPAST | c.*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 | |
2 | g.32136903A= | CA1242501578 | SPAST | c.*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= | |
2 | g.32136903A>C | CA425448961 | SPAST | c.*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 | |
2 | g.32136903A>G | CA346502217 | SPAST | c.*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 |
2 | g.32136903A>T | CA346502218 | SPAST | c.*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 | |
2 | g.32136908_32136912del | CA2586964757 | SPAST | c.*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 | |
2 | g.32136904G>A | CA346502220 | SPAST | c.*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 |
2 | g.32136904G>C | CA346502221 | SPAST | c.*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 | |
2 | g.32136904G= | CA1242501586 | SPAST | c.*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= | |
2 | g.32136904G>T | CA346502219 | SPAST | c.*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 | |
2 | g.32136905A= | CA1242501589 | SPAST | c.*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= | |
2 | g.32136905A>C | CA346502222 | SPAST | c.*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 | |
2 | g.32136905A>G | CA425448971 | SPAST | c.*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 | |
2 | g.32136905A>T | CA346502223 | SPAST | c.*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 |
2 | g.32136905_32136906del | CA2499215907 | SPAST | c.*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 |
2 | g.32136906A>C | CA425448973 | SPAST | c.*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 | |
2 | g.32136906A>G | CA346502224 | SPAST | c.*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 |
2 | g.32136906A>T | CA346502225 | SPAST | c.*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 | |
2 | g.32136907G>A | CA346502226 | SPAST | c.*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 |
2 | g.32136907G>C | CA346502227 | SPAST | c.*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 | |
2 | g.32136907G= | CA1242501594 | SPAST | c.*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= | |
2 | g.32136907G>T | CA346502228 | SPAST | c.*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 | |
2 | g.32136908A>C | CA346502229 | SPAST | c.*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 | |
2 | g.32136908A>G | CA425448981 | SPAST | c.*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 | |
2 | g.32136908A>T | CA346502230 | SPAST | c.*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 | |
2 | g.32136910_32136912del | CA2586964759 | SPAST | c.*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 | |
2 | g.32136909G>A | CA346502231 | SPAST | c.*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 | |
2 | g.32136909G>C | CA346502232 | SPAST | c.*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 |
2 | g.32136909G>T | CA346502233 | SPAST | c.*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 | |
2 | g.32136910A>C | CA346502235 | SPAST | c.*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 | |
2 | g.32136910A>G | CA346502236 | SPAST | c.*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 |
2 | g.32136910A>T | CA346502234 | SPAST | c.*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 | |
2 | g.32136911del | CA2586964761 | SPAST | c.*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 | |
2 | g.32136911A= | CA1242501597 | SPAST | c.*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= | |
2 | g.32136911A>C | CA346502237 | SPAST | c.*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 | |
2 | g.32136911A>G | CA425448989 | SPAST | c.*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 | |
2 | g.32136911A>T | CA346502238 | SPAST | c.*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 |
2 | g.32136912G>A | CA346502239 | SPAST | c.*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 | |
2 | g.32136912G>C | CA346502240 | SPAST | c.*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 | |
2 | g.32136912G>T | CA346502241 | SPAST | c.*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 |
2 | g.32136914_32136915dup | CA767792717 | SPAST | c.*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 |
2 | g.32136913_32136915dup | CA2586964762 | SPAST | c.*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 | |
2 | g.32136913G>A | CA346502244 | SPAST | c.*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 | |
2 | g.32136913G>C | CA346502243 | SPAST | c.*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 | |
2 | g.32136913G>T | CA346502242 | SPAST | c.*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 | |
2 | g.32136914G>A | CA425448998 | SPAST | c.*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 | |
2 | g.32136914G>C | CA425448999 | SPAST | c.*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 |
2 | g.32136914G= | CA1242501606 | SPAST | c.*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= | |
2 | g.32136914G>T | CA425449000 | SPAST | c.*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 | |
2 | g.32136915G>A | CA346502245 | SPAST | c.*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 |
2 | g.32136915G>C | CA346502246 | SPAST | c.*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 | |
2 | g.32136915G= | CA1242501611 | SPAST | c.*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= | |
2 | g.32136915G>T | CA346502247 | SPAST | c.*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 | |
2 | g.32136916A>C | CA346502248 | SPAST | c.*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 | |
2 | g.32136916A>G | CA346502249 | SPAST | c.*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 |
2 | g.32136916A>T | CA346502250 | SPAST | c.*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 | |
2 | g.32136916dup | CA915943724 | SPAST | c.*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 |
2 | g.32136916_32136918delinsGGG | CA2586964763 | SPAST | c.*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 | |
2 | g.32136917G>A | CA1600876 | SPAST | c.*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 |
2 | g.32136917G>C | CA346502252 | SPAST | c.*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 | |
2 | g.32136917G= | CA1242501623 | SPAST | c.*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= | |
2 | g.32136917G>T | CA346502251 | SPAST | c.*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 |
2 | g.32136918C>A | CA346502253 | SPAST | c.*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 | |
2 | g.32136918C= | CA1242501630 | SPAST | c.*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= | |
2 | g.32136918C>G | CA338018 | SPAST | c.*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 |
2 | g.32136918C>T | CA346502254 | SPAST | c.*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 |
2 | g.32136919A>C | CA346502255 | SPAST | c.*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 | |
2 | g.32136919A>G | CA346502257 | SPAST | c.*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 | |
2 | g.32136919A>T | CA346502256 | SPAST | c.*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 | |
2 | g.32136920C>A | CA346502258 | SPAST | c.*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 | |
2 | g.32136920C= | CA1242501637 | SPAST | c.*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= | |
2 | g.32136920C>G | CA346502259 | SPAST | c.*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 | |
2 | g.32136920C>T | CA1600877 | SPAST | c.*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 |
2 | g.32136921G>A | CA346502260 | SPAST | c.*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 |
2 | g.32136921G>C | CA346502261 | SPAST | c.*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 | |
2 | g.32136921G= | CA1242501641 | SPAST | c.*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= | |
2 | g.32136921G>T | CA346502262 | SPAST | c.*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 | |
2 | g.32136921_32136924dup | CA2580066408 | SPAST | c.*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 |
2 | g.32136922A= | CA1242501644 | SPAST | c.*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= | |
2 | g.32136922A>C | CA346502263 | SPAST | c.*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 | |
2 | g.32136922A>G | CA346502264 | SPAST | c.*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 | |
2 | g.32136922A>T | CA346502265 | SPAST | c.*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 | |
2 | g.32136923T>A | CA346502266 | SPAST | c.*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 | |
2 | g.32136923T>C | CA425449012 | SPAST | c.*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 | |
2 | g.32136923T>G | CA346502267 | SPAST | c.*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 | |
2 | g.32136923dup | CA915943725 | SPAST | c.*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 |
2 | g.32136924G>A | CA346502268 | SPAST | c.*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 | |
2 | g.32136924G>C | CA346502269 | SPAST | c.*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 | |
2 | g.32136924G>T | CA346502270 | SPAST | c.*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 | |
2 | g.32136924_32136925insGATC | CA2586964764 | SPAST | c.*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 | |
2 | g.32136925C>A | CA346502273 | SPAST | c.*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 | |
2 | g.32136925C>G | CA346502271 | SPAST | c.*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 | |
2 | g.32136925C>T | CA346502272 | SPAST | c.*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 |
2 | g.32136926T>A | CA425449018 | SPAST | c.*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 | |
2 | g.32136926T>C | CA425449021 | SPAST | c.*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 | |
2 | g.32136926T>G | CA425449019 | SPAST | c.*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 | |
2 | g.32136927A>C | CA346502274 | SPAST | c.*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 |
2 | g.32136927A>G | CA346502275 | SPAST | c.*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 | |
2 | g.32136927A>T | CA346502276 | SPAST | c.*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 | |
2 | g.32136928G>A | CA346502277 | SPAST | c.*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 | |
2 | g.32136928G>C | CA44749869 | SPAST | c.*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 |
2 | g.32136928G= | CA1242501656 | SPAST | c.*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= | |
2 | g.32136928G>T | CA346502278 | SPAST | c.*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 | |
2 | g.32136929T>A | CA346502279 | SPAST | c.*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 | |
2 | g.32136929T>C | CA44749875 | SPAST | c.*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 |
2 | g.32136929T>G | CA346502280 | SPAST | c.*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 |
2 | g.32136929T= | CA1242501662 | SPAST | c.*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= | |
2 | g.32136930del | CA2499215908 | SPAST | c.*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 |
2 | g.32136930A= | CA1242501671 | SPAST | c.*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= | |
2 | g.32136930A>C | CA425449028 | SPAST | c.*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 |
2 | g.32136930A>G | CA346502281 | SPAST | c.*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 |
2 | g.32136930A>T | CA346502282 | SPAST | c.*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 | |
2 | g.32136931G>A | CA346502284 | SPAST | c.*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 |
2 | g.32136931G>C | CA346502285 | SPAST | c.*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 |
2 | g.32136931G= | CA1242501675 | SPAST | c.*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= | |
2 | g.32136931G>T | CA346502283 | SPAST | c.*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 | |
2 | g.32136932A>C | CA346502286 | SPAST | c.*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 | |
2 | g.32136932A>G | CA425449031 | SPAST | c.*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 | |
2 | g.32136932A>T | CA346502287 | SPAST | c.*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 | |
2 | g.32136932_32136933delinsCTA | CA2586964765 | SPAST | c.*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 | |
2 | g.32136933C>A | CA346502288 | SPAST | c.*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 |
2 | g.32136933C= | CA1242501684 | SPAST | c.*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= | |
2 | g.32136933C>G | CA346502289 | SPAST | c.*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 | |
2 | g.32136933C>T | CA10581968 | SPAST | c.*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 |
2 | g.32136934del | CA2586964766 | SPAST | c.*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 | |
2 | g.32136934G>A | CA346502290 | SPAST | c.*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 |
2 | g.32136934G>C | CA346502291 | SPAST | c.*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 | |
2 | g.32136934G= | CA1242501690 | SPAST | c.*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= | |
2 | g.32136934G>T | CA346502292 | SPAST | c.*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 |
2 | g.32136935C>A | CA425449035 | SPAST | c.*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 | |
2 | g.32136935C>G | CA425449036 | SPAST | c.*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 |
2 | g.32136935C>T | CA425449037 | SPAST | c.*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 |
2 | g.32136936C>A | CA346502293 | SPAST | c.*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 | |
2 | g.32136936C>G | CA346502294 | SPAST | c.*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 | |
2 | g.32136936C>T | CA425449040 | SPAST | c.*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 | |
2 | g.32136937del | CA2573051936 | SPAST | c.*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 |
2 | g.32136937T>A | CA346502295 | SPAST | c.*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 | |
2 | g.32136937T>C | CA346502296 | SPAST | c.*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 |
2 | g.32136937T>G | CA346502297 | SPAST | c.*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 | |
2 | g.32136937T= | CA1242501697 | SPAST | c.*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= | |
2 | g.32136938A= | CA1242501701 | SPAST | c.*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= | |
2 | g.32136938A>C | CA425449044 | SPAST | c.*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 | |
2 | g.32136938A>G | CA425449045 | SPAST | c.*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 |
2 | g.32136938A>T | CA1600878 | SPAST | c.*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 |
2 | g.32136939A= | CA1242501706 | SPAST | c.*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= | |
2 | g.32136939A>C | CA346502298 | SPAST | c.*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 |
2 | g.32136939A>G | CA346502299 | SPAST | c.*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 |
2 | g.32136939A>T | CA346502300 | SPAST | c.*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 | |
2 | g.32136940A>C | CA346502301 | SPAST | c.*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 | |
2 | g.32136940A>G | CA346502302 | SPAST | c.*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 | |
2 | g.32136940A>T | CA346502303 | SPAST | c.*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 |
2 | g.32136941A= | CA1242501713 | SPAST | c.*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= | |
2 | g.32136941A>C | CA346502304 | SPAST | c.*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 |
2 | g.32136941A>G | CA425449050 | SPAST | c.*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 | |
2 | g.32136941A>T | CA346502305 | SPAST | c.*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 | |
2 | g.32136942A= | CA1242501716 | SPAST | c.*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= | |
2 | g.32136942A>C | CA346502306 | SPAST | c.*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 | |
2 | g.32136942A>G | CA346502307 | SPAST | c.*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 |
2 | g.32136942A>T | CA346502308 | SPAST | c.*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 | |
2 | g.32136943C>A | CA346502309 | SPAST | c.*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 |
2 | g.32136943C>G | CA346502310 | SPAST | c.*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 | |
2 | g.32136943C>T | CA346502311 | SPAST | c.*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 | |
2 | g.32136944T>A | CA425449054 | SPAST | c.*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 |
2 | g.32136944T>C | CA425449055 | SPAST | c.*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 | |
2 | g.32136944T>G | CA425449056 | SPAST | c.*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 | |
2 | g.32136945G>A | CA346502314 | SPAST | c.*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 |
2 | g.32136945G>C | CA346502313 | SPAST | c.*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 |
2 | g.32136945G= | CA1242501720 | SPAST | c.*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= | |
2 | g.32136945G>T | CA346502312 | SPAST | c.*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 |
2 | g.32136945_32136946delinsGA | CA1242501719 | SPAST | c.*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 | |
2 | g.32136946A= | CA1242501721 | SPAST | c.*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= | |
2 | g.32136946A>C | CA346502316 | SPAST | c.*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 |
2 | g.32136946A>G | CA346502315 | SPAST | c.*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 |
2 | g.32136946A>T | CA346502317 | SPAST | c.*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 | |
2 | g.32136947del | CA891843420 | SPAST | c.*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 |
2 | g.32136949_32136955dup | CA2499215909 | SPAST | c.*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 |
2 | g.32136947A>C | CA346502318 | SPAST | c.*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 | |
2 | g.32136947A>G | CA425449061 | SPAST | c.*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 | |
2 | g.32136947A>T | CA346502319 | SPAST | c.*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 | |
2 | g.32136947_32136948delinsAT | CA1242501724 | SPAST | c.*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 | |
2 | g.32136948T>A | CA346502320 | SPAST | c.*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 | |
2 | g.32136948T>C | CA346502321 | SPAST | c.*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 | |
2 | g.32136948T>G | CA346502322 | SPAST | c.*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 |
2 | g.32136950del | CA253550 | SPAST | c.*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 |
2 | g.32136949T>A | CA346502323 | SPAST | c.*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 |
2 | g.32136949T>C | CA346502324 | SPAST | c.*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 | |
2 | g.32136949T>G | CA346502325 | SPAST | c.*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 | |
2 | g.32136950T>A | CA346502326 | SPAST | c.*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 | |
2 | g.32136950T>C | CA425449068 | SPAST | c.*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 | |
2 | g.32136950T>G | CA346502327 | SPAST | c.*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 | |
2 | g.32136951C>A | CA346502328 | SPAST | c.*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 | |
2 | g.32136951C= | CA1242501726 | SPAST | c.*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= | |
2 | g.32136951C>G | CA346502329 | SPAST | c.*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 |
2 | g.32136951C>T | CA425449073 | SPAST | c.*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 |
2 | g.32136952T>A | CA346502332 | SPAST | c.*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 | |
2 | g.32136952T>C | CA346502330 | SPAST | c.*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 |
2 | g.32136952T>G | CA346502331 | SPAST | c.*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 | |
2 | g.32136952T= | CA1242501729 | SPAST | c.*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= | |
2 | g.32136953A= | CA1242501739 | SPAST | c.*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= | |
2 | g.32136953A>C | CA425449076 | SPAST | c.*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 | |
2 | g.32136953A>G | CA1600879 | SPAST | c.*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 |
2 | g.32136953A>T | CA425449078 | SPAST | c.*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 | |
2 | g.32136953_32136969dup | CA891843421 | SPAST | c.*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 |
2 | g.32136954A= | CA1242501743 | SPAST | c.*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= | |
2 | g.32136954A>C | CA346502333 | SPAST | c.*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 | |
2 | g.32136954A>G | CA346502334 | SPAST | c.*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 |
2 | g.32136954A>T | CA346502335 | SPAST | c.*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 | |
2 | g.32136955T>A | CA346502336 | SPAST | c.*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 | |
2 | g.32136955T>C | CA1600880 | SPAST | c.*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 |
2 | g.32136955T>G | CA346502337 | SPAST | c.*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 | |
2 | g.32136955T= | CA1242501746 | SPAST | c.*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= | |
2 | g.32136956A>C | CA425449081 | SPAST | c.*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 | |
2 | g.32136956A>G | CA346502338 | SPAST | c.*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 | |
2 | g.32136956A>T | CA425449083 | SPAST | c.*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 | |
2 | g.32136957G>A | CA346502339 | SPAST | c.*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 | |
2 | g.32136957G>C | CA346502340 | SPAST | c.*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 |
2 | g.32136957G= | CA1242501750 | SPAST | c.*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= | |
2 | g.32136957G>T | CA346502341 | SPAST | c.*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 |
2 | g.32136958A= | CA1242501752 | SPAST | c.*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= | |
2 | g.32136958A>C | CA346502344 | SPAST | c.*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 | |
2 | g.32136958A>G | CA346502343 | SPAST | c.*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 |
2 | g.32136958A>T | CA346502342 | SPAST | c.*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 | |
2 | g.32136959A= | CA1242501758 | SPAST | c.*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= | |
2 | g.32136959A>C | CA346502345 | SPAST | c.*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 | |
2 | g.32136959A>G | CA425449087 | SPAST | c.*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 |
2 | g.32136959A>T | CA1600881 | SPAST | c.*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 |
2 | g.32136959_32136960delinsAT | CA1242501757 | SPAST | c.*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 | |
2 | g.32136960T>A | CA346502346 | SPAST | c.*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 |
2 | g.32136960T>C | CA346502347 | SPAST | c.*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 | |
2 | g.32136960T>G | CA346502348 | SPAST | c.*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 |
2 | g.32136962del | CA1139656825 | SPAST | c.*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 |
2 | g.32136961T>A | CA346502349 | SPAST | c.*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 | |
2 | g.32136961T>C | CA346502350 | SPAST | c.*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 | |
2 | g.32136961T>G | CA346502351 | SPAST | c.*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 | |
2 | g.32136962T>A | CA346502352 | SPAST | c.*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 | |
2 | g.32136962T>C | CA425449092 | SPAST | c.*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 | |
2 | g.32136962T>G | CA346502353 | SPAST | c.*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 | |
2 | g.32136963G>A | CA346502354 | SPAST | c.*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 | |
2 | g.32136963G>C | CA346502355 | SPAST | c.*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 |
2 | g.32136963G= | CA1242501772 | SPAST | c.*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= | |
2 | g.32136963G>T | CA346502356 | SPAST | c.*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 |
2 | g.32136964A= | CA1242501779 | SPAST | c.*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= | |
2 | g.32136964A>C | CA346502358 | SPAST | c.*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 |
2 | g.32136964A>G | CA346502357 | SPAST | c.*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 |
2 | g.32136964A>T | CA253564 | SPAST | c.*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 |
2 | g.32136965T>A | CA346502359 | SPAST | c.*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 | |
2 | g.32136965T>C | CA1600882 | SPAST | c.*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 |
2 | g.32136965T>G | CA346502360 | SPAST | c.*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 | |
2 | g.32136965T= | CA1242501787 | SPAST | c.*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= | |
2 | g.32136966G>A | CA346502361 | SPAST | c.*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 |
2 | g.32136966G>C | CA346502362 | SPAST | c.*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 | |
2 | g.32136966G= | CA1242501793 | SPAST | c.*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= | |
2 | g.32136966G>T | CA346502363 | SPAST | c.*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 |
2 | g.32136966_32136968delinsGGT | CA1242501794 | SPAST | c.*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 | |
2 | g.32136967G>A | CA346502364 | SPAST | c.*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 |
2 | g.32136967G>C | CA346502365 | SPAST | c.*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 |
2 | g.32136967G= | CA1242501800 | SPAST | c.*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= | |
2 | g.32136967G>T | CA346502366 | SPAST | c.*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 | |
2 | g.32136967_32136968delinsAC | CA2586964768 | SPAST | c.*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 | |
2 | g.32136969_32136970del | CA1242501799 | SPAST | c.*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 |
2 | g.32136968T>A | CA425449098 | SPAST | c.*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 | |
2 | g.32136968T>C | CA425449097 | SPAST | c.*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 | |
2 | g.32136968T>G | CA425449096 | SPAST | c.*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 |
2 | g.32136968dup | CA2586964769 | SPAST | c.*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 | |
2 | g.32136968_32136972delinsTGTAA | CA1242501806 | SPAST | c.*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 | |
2 | g.32136969G>A | CA346502367 | SPAST | c.*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 |
2 | g.32136969G>C | CA346502368 | SPAST | c.*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 | |
2 | g.32136969G= | CA1242501820 | SPAST | c.*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= | |
2 | g.32136969G>T | CA346502369 | SPAST | c.*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 |
2 | g.32136971_32136974del | CA44749914 | SPAST | c.*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 |
2 | g.32136970T>A | CA346502371 | SPAST | c.*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 | |
2 | g.32136970T>C | CA346502372 | SPAST | c.*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 | |
2 | g.32136970T>G | CA346502370 | SPAST | c.*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 |
2 | g.32136970T= | CA1242501833 | SPAST | c.*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= | |
2 | g.32136970dup | CA253559 | SPAST | c.*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 |
2 | g.32136971A>C | CA2586964772 | SPAST | c.*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 | |
2 | g.32136972A>G | CA2586964773 | SPAST | c.*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 | |
2 | g.32136973G>A | CA891843422 | SPAST | c.*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 |
2 | g.32136973G>C | CA658657026 | SPAST | c.*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 |
2 | g.32136973G= | CA1242501839 | SPAST | c.*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= | |
2 | g.32136974T>C | CA1242501846 | SPAST | c.*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 |
2 | g.32136974T>G | CA2573134505 | SPAST | c.*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 |
2 | g.32136974T= | CA1242501845 | SPAST | c.*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= | |
2 | g.32136975G>A | CA531501864 | SPAST | c.*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 |
2 | g.32136975G= | CA1242501849 | SPAST | c.*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= | |
2 | g.32136975_32136979delinsGTTGA | CA1242501848 | SPAST | c.*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 | |
2 | g.32136978_32136981del | CA1600883 | SPAST | c.*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 |
2 | g.32136977T>G | CA1600884 | SPAST | c.*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 |
2 | g.32136977T= | CA1242501851 | SPAST | c.*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= | |
2 | g.32136978G>A | CA2573134506 | SPAST | c.*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 |
2 | g.32136978G>T | CA2658529248 | SPAST | c.*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 |
2 | g.32136979A>C | CA2576930443 | SPAST | c.*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 | |
2 | g.32136980T>C | CA2576930444 | SPAST | c.*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 |
2 | g.32136981del | CA2658529249 | SPAST | c.*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 |
2 | g.32136982A= | CA1242501855 | SPAST | c.*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= | |
2 | g.32136982A>T | CA1600885 | SPAST | c.*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 |
2 | g.32136984_32136986del | CA2658529250 | SPAST | c.*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 |
2 | g.32136984G>A | CA531501865 | SPAST | c.*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 |
2 | g.32136984G= | CA1242501858 | SPAST | c.*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= | |
2 | g.32136984G>T | CA531501866 | SPAST | c.*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 |
2 | g.32136985A>C | CA2658529251 | SPAST | c.*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 |
2 | g.32136985A>G | CA2658529252 | SPAST | c.*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 |
2 | g.32136986_32136987delinsTA | CA1242501860 | SPAST | c.*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 | |
2 | g.32136987del | CA1242501861 | SPAST | c.*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 |
2 | g.32136988T>C | CA1242501863 | SPAST | c.*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 |
2 | g.32136988T= | CA1242501862 | SPAST | c.*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= | |
2 | g.32136991T>C | CA531501867 | SPAST | c.*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 |
2 | g.32136991T= | CA1242501865 | SPAST | c.*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= | |
2 | g.32136992T>A | CA2658529253 | SPAST | c.*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 |
2 | g.32136996G>C | CA531501868 | SPAST | c.*1073+28G>C (n.*1073+28G>C) c.1413+28G>C (n.1413+28G>C) c.1410+28G>C (n.1410+28G>C) c.1150+28G>C c.1314+28G>C (n.1314+28G>C) c.1187+28G>C c.1155+28G>C (n.1155+28G>C) c.481-113G>C c.993+28G>C c.1289+28G>C c.1059+28G>C (n.1059+28G>C) n.2150+28G>C c.863+28G>C c.593-113G>C c.1059+28G>C c.1317+28G>C (n.1317+28G>C) n.1105+28G>C c.913+28G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32136996G= | CA1242501870 | SPAST | c.*1073+28G= (n.*1073+28G=) c.1413+28G= (n.1413+28G=) c.1410+28G= (n.1410+28G=) c.1150+28G= c.1314+28G= (n.1314+28G=) c.1187+28G= c.1155+28G= (n.1155+28G=) c.481-113G= c.993+28G= c.1289+28G= c.1059+28G= (n.1059+28G=) n.2150+28G= c.863+28G= c.593-113G= c.1059+28G= c.1317+28G= (n.1317+28G=) n.1105+28G= c.913+28G= | |
2 | g.32136998G>A | CA2658529254 | SPAST | c.*1073+30G>A (n.*1073+30G>A) c.1413+30G>A (n.1413+30G>A) c.1410+30G>A (n.1410+30G>A) c.1150+30G>A c.1314+30G>A (n.1314+30G>A) c.1187+30G>A c.1155+30G>A (n.1155+30G>A) c.481-111G>A c.993+30G>A c.1289+30G>A c.1059+30G>A (n.1059+30G>A) n.2150+30G>A c.863+30G>A c.593-111G>A c.1059+30G>A c.1317+30G>A (n.1317+30G>A) n.1105+30G>A c.913+30G>A | gnomAD v4 |
2 | g.32136998G>T | CA2658529255 | SPAST | c.*1073+30G>T (n.*1073+30G>T) c.1413+30G>T (n.1413+30G>T) c.1410+30G>T (n.1410+30G>T) c.1150+30G>T c.1314+30G>T (n.1314+30G>T) c.1187+30G>T c.1155+30G>T (n.1155+30G>T) c.481-111G>T c.993+30G>T c.1289+30G>T c.1059+30G>T (n.1059+30G>T) n.2150+30G>T c.863+30G>T c.593-111G>T c.1059+30G>T c.1317+30G>T (n.1317+30G>T) n.1105+30G>T c.913+30G>T | gnomAD v4 |
2 | g.32136999G>T | CA2658529256 | SPAST | c.*1073+31G>T (n.*1073+31G>T) c.1413+31G>T (n.1413+31G>T) c.1410+31G>T (n.1410+31G>T) c.1150+31G>T c.1314+31G>T (n.1314+31G>T) c.1187+31G>T c.1155+31G>T (n.1155+31G>T) c.481-110G>T c.993+31G>T c.1289+31G>T c.1059+31G>T (n.1059+31G>T) n.2150+31G>T c.863+31G>T c.593-110G>T c.1059+31G>T c.1317+31G>T (n.1317+31G>T) n.1105+31G>T c.913+31G>T | gnomAD v4 |
2 | g.32137000C>A | CA2658529257 | SPAST | c.*1073+32C>A (n.*1073+32C>A) c.1413+32C>A (n.1413+32C>A) c.1410+32C>A (n.1410+32C>A) c.1150+32C>A c.1314+32C>A (n.1314+32C>A) c.1187+32C>A c.1155+32C>A (n.1155+32C>A) c.481-109C>A c.993+32C>A c.1289+32C>A c.1059+32C>A (n.1059+32C>A) n.2150+32C>A c.863+32C>A c.593-109C>A c.1059+32C>A c.1317+32C>A (n.1317+32C>A) n.1105+32C>A c.913+32C>A | gnomAD v4 |
2 | g.32137000C= | CA1242501872 | SPAST | c.*1073+32C= (n.*1073+32C=) c.1413+32C= (n.1413+32C=) c.1410+32C= (n.1410+32C=) c.1150+32C= c.1314+32C= (n.1314+32C=) c.1187+32C= c.1155+32C= (n.1155+32C=) c.481-109C= c.993+32C= c.1289+32C= c.1059+32C= (n.1059+32C=) n.2150+32C= c.863+32C= c.593-109C= c.1059+32C= c.1317+32C= (n.1317+32C=) n.1105+32C= c.913+32C= | |
2 | g.32137000C>T | CA767792909 | SPAST | c.*1073+32C>T (n.*1073+32C>T) c.1413+32C>T (n.1413+32C>T) c.1410+32C>T (n.1410+32C>T) c.1150+32C>T c.1314+32C>T (n.1314+32C>T) c.1187+32C>T c.1155+32C>T (n.1155+32C>T) c.481-109C>T c.993+32C>T c.1289+32C>T c.1059+32C>T (n.1059+32C>T) n.2150+32C>T c.863+32C>T c.593-109C>T c.1059+32C>T c.1317+32C>T (n.1317+32C>T) n.1105+32C>T c.913+32C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32137001A= | CA1242501874 | SPAST | c.*1073+33A= (n.*1073+33A=) c.1413+33A= (n.1413+33A=) c.1410+33A= (n.1410+33A=) c.1150+33A= c.1314+33A= (n.1314+33A=) c.1187+33A= c.1155+33A= (n.1155+33A=) c.481-108A= c.993+33A= c.1289+33A= c.1059+33A= (n.1059+33A=) n.2150+33A= c.863+33A= c.593-108A= c.1059+33A= c.1317+33A= (n.1317+33A=) n.1105+33A= c.913+33A= | |
2 | g.32137001A>T | CA44749951 | SPAST | c.*1073+33A>T (n.*1073+33A>T) c.1413+33A>T (n.1413+33A>T) c.1410+33A>T (n.1410+33A>T) c.1150+33A>T c.1314+33A>T (n.1314+33A>T) c.1187+33A>T c.1155+33A>T (n.1155+33A>T) c.481-108A>T c.993+33A>T c.1289+33A>T c.1059+33A>T (n.1059+33A>T) n.2150+33A>T c.863+33A>T c.593-108A>T c.1059+33A>T c.1317+33A>T (n.1317+33A>T) n.1105+33A>T c.913+33A>T | dbSNP |