| 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.32137130_32137136del | CA2586964776 | SPAST | c.*1095_*1101del (n.*1095_*1101del) c.1435_1441del (p.Arg479LeufsTer2) c.1432_1438del (p.Arg478LeufsTer2) c.1172_1178del c.1336_1342del (p.Arg446LeufsTer2) c.1209_1215del c.1177_1183del (p.Arg393LeufsTer2) c.502_508del c.1015_1021del c.1311_1317del c.1081_1087del (p.Arg361LeufsTer2) n.2172_2178del c.885_891del c.614_620del c.1081_1087del c.1339_1345del (p.Arg447LeufsTer2) n.1127_1133del c.935_941del | |
| 2 | g.32137129_32137131delinsCAG | CA1242502038 | SPAST | c.*1094_*1096delinsCAG (n.*1094_*1096delinsCAG) c.1434_1436delinsCAG (p.Asp478=) c.1431_1433delinsCAG (p.Asp477=) c.1171_1173delinsCAG c.1335_1337delinsCAG (p.Asp445=) c.1208_1210delinsCAG c.1176_1178delinsCAG (p.Asp392=) c.501_503delinsCAG c.1014_1016delinsCAG c.1310_1312delinsCAG c.1080_1082delinsCAG (p.Asp360=) n.2171_2173delinsCAG c.884_886delinsCAG c.613_615delinsCAG c.1080_1082delinsCAG c.1338_1340delinsCAG (p.Asp446=) n.1126_1128delinsCAG c.934_936delinsCAG | |
| 2 | g.32137130A>C | CA425449184 | SPAST | c.*1095A>C (n.*1095A>C) c.1435A>C (p.Arg479=) c.1432A>C (p.Arg478=) c.1172A>C c.1336A>C (p.Arg446=) c.1209A>C c.1177A>C (p.Arg393=) c.502A>C c.1015A>C c.1311A>C c.1081A>C (p.Arg361=) n.2172A>C c.885A>C c.614A>C c.1081A>C c.1339A>C (p.Arg447=) n.1127A>C c.935A>C | |
| 2 | g.32137130A>G | CA346502422 | SPAST | c.*1095A>G (n.*1095A>G) c.1435A>G (p.Arg479Gly) c.1432A>G (p.Arg478Gly) c.1172A>G c.1336A>G (p.Arg446Gly) c.1209A>G c.1177A>G (p.Arg393Gly) c.502A>G c.1015A>G c.1311A>G c.1081A>G (p.Arg361Gly) n.2172A>G c.885A>G c.614A>G c.1081A>G c.1339A>G (p.Arg447Gly) n.1127A>G c.935A>G | |
| 2 | g.32137130A>T | CA346502423 | SPAST | c.*1095A>T (n.*1095A>T) c.1435A>T (p.Arg479Ter) c.1432A>T (p.Arg478Ter) c.1172A>T c.1336A>T (p.Arg446Ter) c.1209A>T c.1177A>T (p.Arg393Ter) c.502A>T c.1015A>T c.1311A>T c.1081A>T (p.Arg361Ter) n.2172A>T c.885A>T c.614A>T c.1081A>T c.1339A>T (p.Arg447Ter) n.1127A>T c.935A>T | |
| 2 | g.32137130dup | CA2658529301 | SPAST | c.*1095dup (n.*1095dup) c.1435dup (p.Arg479LysfsTer9) c.1432dup (p.Arg478LysfsTer9) c.1172dup c.1336dup (p.Arg446LysfsTer9) c.1209dup c.1177dup (p.Arg393LysfsTer9) c.502dup c.1015dup c.1311dup c.1081dup (p.Arg361LysfsTer9) n.2172dup c.885dup c.614dup c.1081dup c.1339dup (p.Arg447LysfsTer9) n.1127dup c.935dup | gnomAD v4 |
| 2 | g.32137132_32137133del | CA348291 | SPAST | c.*1097_*1098del (n.*1097_*1098del) c.1437_1438del (p.Arg479SerfsTer8) c.1434_1435del (p.Arg478SerfsTer8) c.1174_1175del c.1338_1339del (p.Arg446SerfsTer8) c.1211_1212del c.1179_1180del (p.Arg393SerfsTer8) c.504_505del c.1017_1018del c.1313_1314del c.1083_1084del (p.Arg361SerfsTer8) n.2174_2175del c.887_888del c.616_617del c.1083_1084del c.1341_1342del (p.Arg447SerfsTer8) n.1129_1130del c.937_938del | dbSNP |
| 2 | g.32137131G>A | CA346502424 | SPAST | c.*1096G>A (n.*1096G>A) c.1436G>A (p.Arg479Lys) c.1433G>A (p.Arg478Lys) c.1173G>A c.1337G>A (p.Arg446Lys) c.1210G>A c.1178G>A (p.Arg393Lys) c.503G>A c.1016G>A c.1312G>A c.1082G>A (p.Arg361Lys) n.2173G>A c.886G>A c.615G>A c.1082G>A c.1340G>A (p.Arg447Lys) n.1128G>A c.936G>A | |
| 2 | g.32137131G>C | CA346502426 | SPAST | c.*1096G>C (n.*1096G>C) c.1436G>C (p.Arg479Thr) c.1433G>C (p.Arg478Thr) c.1173G>C c.1337G>C (p.Arg446Thr) c.1210G>C c.1178G>C (p.Arg393Thr) c.503G>C c.1016G>C c.1312G>C c.1082G>C (p.Arg361Thr) n.2173G>C c.886G>C c.615G>C c.1082G>C c.1340G>C (p.Arg447Thr) n.1128G>C c.936G>C | |
| 2 | g.32137131G>T | CA346502425 | SPAST | c.*1096G>T (n.*1096G>T) c.1436G>T (p.Arg479Ile) c.1433G>T (p.Arg478Ile) c.1173G>T c.1337G>T (p.Arg446Ile) c.1210G>T c.1178G>T (p.Arg393Ile) c.503G>T c.1016G>T c.1312G>T c.1082G>T (p.Arg361Ile) n.2173G>T c.886G>T c.615G>T c.1082G>T c.1340G>T (p.Arg447Ile) n.1128G>T c.936G>T | |
| 2 | g.32137132A>C | CA346502427 | SPAST | c.*1097A>C (n.*1097A>C) c.1437A>C (p.Arg479Ser) c.1434A>C (p.Arg478Ser) c.1174A>C c.1338A>C (p.Arg446Ser) c.1211A>C c.1179A>C (p.Arg393Ser) c.504A>C c.1017A>C c.1313A>C c.1083A>C (p.Arg361Ser) n.2174A>C c.887A>C c.616A>C c.1083A>C c.1341A>C (p.Arg447Ser) n.1129A>C c.937A>C | |
| 2 | g.32137132A>G | CA425449185 | SPAST | c.*1097A>G (n.*1097A>G) c.1437A>G (p.Arg479=) c.1434A>G (p.Arg478=) c.1174A>G c.1338A>G (p.Arg446=) c.1211A>G c.1179A>G (p.Arg393=) c.504A>G c.1017A>G c.1313A>G c.1083A>G (p.Arg361=) n.2174A>G c.887A>G c.616A>G c.1083A>G c.1341A>G (p.Arg447=) n.1129A>G c.937A>G | |
| 2 | g.32137132A>T | CA346502428 | SPAST | c.*1097A>T (n.*1097A>T) c.1437A>T (p.Arg479Ser) c.1434A>T (p.Arg478Ser) c.1174A>T c.1338A>T (p.Arg446Ser) c.1211A>T c.1179A>T (p.Arg393Ser) c.504A>T c.1017A>T c.1313A>T c.1083A>T (p.Arg361Ser) n.2174A>T c.887A>T c.616A>T c.1083A>T c.1341A>T (p.Arg447Ser) n.1129A>T c.937A>T | |
| 2 | g.32137133G>A | CA346502429 | SPAST | c.*1098G>A (n.*1098G>A) c.1438G>A (p.Val480Ile) c.1435G>A (p.Val479Ile) c.1175G>A c.1339G>A (p.Val447Ile) c.1212G>A c.1180G>A (p.Val394Ile) c.505G>A c.1018G>A c.1314G>A c.1084G>A (p.Val362Ile) n.2175G>A c.888G>A c.617G>A c.1084G>A c.1342G>A (p.Val448Ile) n.1130G>A c.938G>A | |
| 2 | g.32137133G>C | CA346502430 | SPAST | c.*1098G>C (n.*1098G>C) c.1438G>C (p.Val480Leu) c.1435G>C (p.Val479Leu) c.1175G>C c.1339G>C (p.Val447Leu) c.1212G>C c.1180G>C (p.Val394Leu) c.505G>C c.1018G>C c.1314G>C c.1084G>C (p.Val362Leu) n.2175G>C c.888G>C c.617G>C c.1084G>C c.1342G>C (p.Val448Leu) n.1130G>C c.938G>C | |
| 2 | g.32137133G>T | CA346502431 | SPAST | c.*1098G>T (n.*1098G>T) c.1438G>T (p.Val480Leu) c.1435G>T (p.Val479Leu) c.1175G>T c.1339G>T (p.Val447Leu) c.1212G>T c.1180G>T (p.Val394Leu) c.505G>T c.1018G>T c.1314G>T c.1084G>T (p.Val362Leu) n.2175G>T c.888G>T c.617G>T c.1084G>T c.1342G>T (p.Val448Leu) n.1130G>T c.938G>T | |
| 2 | g.32137136_32137141del | CA2582342361 | SPAST | c.*1101_*1106del (n.*1101_*1106del) c.1441_1446del (p.Leu481_Val482del) c.1438_1443del (p.Leu480_Val481del) c.1178_1183del c.1342_1347del (p.Leu448_Val449del) c.1215_1220del c.1183_1188del (p.Leu395_Val396del) c.508_513del c.1021_1026del c.1317_1322del c.1087_1092del (p.Leu363_Val364del) n.2178_2183del c.891_896del c.620_625del c.1087_1092del c.1345_1350del (p.Leu449_Val450del) n.1133_1138del c.941_946del | |
| 2 | g.32137134T>A | CA346502432 | SPAST | c.*1099T>A (n.*1099T>A) c.1439T>A (p.Val480Glu) c.1436T>A (p.Val479Glu) c.1176T>A c.1340T>A (p.Val447Glu) c.1213T>A c.1181T>A (p.Val394Glu) c.506T>A c.1019T>A c.1315T>A c.1085T>A (p.Val362Glu) n.2176T>A c.889T>A c.618T>A c.1085T>A c.1343T>A (p.Val448Glu) n.1131T>A c.939T>A | |
| 2 | g.32137134T>C | CA346502433 | SPAST | c.*1099T>C (n.*1099T>C) c.1439T>C (p.Val480Ala) c.1436T>C (p.Val479Ala) c.1176T>C c.1340T>C (p.Val447Ala) c.1213T>C c.1181T>C (p.Val394Ala) c.506T>C c.1019T>C c.1315T>C c.1085T>C (p.Val362Ala) n.2176T>C c.889T>C c.618T>C c.1085T>C c.1343T>C (p.Val448Ala) n.1131T>C c.939T>C | |
| 2 | g.32137134T>G | CA346502434 | SPAST | c.*1099T>G (n.*1099T>G) c.1439T>G (p.Val480Gly) c.1436T>G (p.Val479Gly) c.1176T>G c.1340T>G (p.Val447Gly) c.1213T>G c.1181T>G (p.Val394Gly) c.506T>G c.1019T>G c.1315T>G c.1085T>G (p.Val362Gly) n.2176T>G c.889T>G c.618T>G c.1085T>G c.1343T>G (p.Val448Gly) n.1131T>G c.939T>G | |
| 2 | g.32137134_32137140delinsC | CA2586964777 | SPAST | c.*1099_*1105delinsC (n.*1099_*1105delinsC) c.1439_1445delinsC (p.Val480_Val482delinsAla) c.1436_1442delinsC (p.Val479_Val481delinsAla) c.1176_1182delinsC c.1340_1346delinsC (p.Val447_Val449delinsAla) c.1213_1219delinsC c.1181_1187delinsC (p.Val394_Val396delinsAla) c.506_512delinsC c.1019_1025delinsC c.1315_1321delinsC c.1085_1091delinsC (p.Val362_Val364delinsAla) n.2176_2182delinsC c.889_895delinsC c.618_624delinsC c.1085_1091delinsC c.1343_1349delinsC (p.Val448_Val450delinsAla) n.1131_1137delinsC c.939_945delinsC | |
| 2 | g.32137135A>C | CA425449186 | SPAST | c.*1100A>C (n.*1100A>C) c.1440A>C (p.Val480=) c.1437A>C (p.Val479=) c.1177A>C c.1341A>C (p.Val447=) c.1214A>C c.1182A>C (p.Val394=) c.507A>C c.1020A>C c.1316A>C c.1086A>C (p.Val362=) n.2177A>C c.890A>C c.619A>C c.1086A>C c.1344A>C (p.Val448=) n.1132A>C c.940A>C | |
| 2 | g.32137135A>G | CA425449187 | SPAST | c.*1100A>G (n.*1100A>G) c.1440A>G (p.Val480=) c.1437A>G (p.Val479=) c.1177A>G c.1341A>G (p.Val447=) c.1214A>G c.1182A>G (p.Val394=) c.507A>G c.1020A>G c.1316A>G c.1086A>G (p.Val362=) n.2177A>G c.890A>G c.619A>G c.1086A>G c.1344A>G (p.Val448=) n.1132A>G c.940A>G | gnomAD v4 |
| 2 | g.32137135A>T | CA425449188 | SPAST | c.*1100A>T (n.*1100A>T) c.1440A>T (p.Val480=) c.1437A>T (p.Val479=) c.1177A>T c.1341A>T (p.Val447=) c.1214A>T c.1182A>T (p.Val394=) c.507A>T c.1020A>T c.1316A>T c.1086A>T (p.Val362=) n.2177A>T c.890A>T c.619A>T c.1086A>T c.1344A>T (p.Val448=) n.1132A>T c.940A>T | |
| 2 | g.32137136C>A | CA346502436 | SPAST | c.*1101C>A (n.*1101C>A) c.1441C>A (p.Leu481Ile) c.1438C>A (p.Leu480Ile) c.1178C>A c.1342C>A (p.Leu448Ile) c.1215C>A c.1183C>A (p.Leu395Ile) c.508C>A c.1021C>A c.1317C>A c.1087C>A (p.Leu363Ile) n.2178C>A c.891C>A c.620C>A c.1087C>A c.1345C>A (p.Leu449Ile) n.1133C>A c.941C>A | |
| 2 | g.32137136C>G | CA346502437 | SPAST | c.*1101C>G (n.*1101C>G) c.1441C>G (p.Leu481Val) c.1438C>G (p.Leu480Val) c.1178C>G c.1342C>G (p.Leu448Val) c.1215C>G c.1183C>G (p.Leu395Val) c.508C>G c.1021C>G c.1317C>G c.1087C>G (p.Leu363Val) n.2178C>G c.891C>G c.620C>G c.1087C>G c.1345C>G (p.Leu449Val) n.1133C>G c.941C>G | gnomAD v4 |
| 2 | g.32137136C>T | CA346502435 | SPAST | c.*1101C>T (n.*1101C>T) c.1441C>T (p.Leu481Phe) c.1438C>T (p.Leu480Phe) c.1178C>T c.1342C>T (p.Leu448Phe) c.1215C>T c.1183C>T (p.Leu395Phe) c.508C>T c.1021C>T c.1317C>T c.1087C>T (p.Leu363Phe) n.2178C>T c.891C>T c.620C>T c.1087C>T c.1345C>T (p.Leu449Phe) n.1133C>T c.941C>T | |
| 2 | g.32137137T>A | CA346502438 | SPAST | c.*1102T>A (n.*1102T>A) c.1442T>A (p.Leu481His) c.1439T>A (p.Leu480His) c.1179T>A c.1343T>A (p.Leu448His) c.1216T>A c.1184T>A (p.Leu395His) c.509T>A c.1022T>A c.1318T>A c.1088T>A (p.Leu363His) n.2179T>A c.892T>A c.621T>A c.1088T>A c.1346T>A (p.Leu449His) n.1134T>A c.942T>A | |
| 2 | g.32137137T>C | CA346502439 | SPAST | c.*1102T>C (n.*1102T>C) c.1442T>C (p.Leu481Pro) c.1439T>C (p.Leu480Pro) c.1179T>C c.1343T>C (p.Leu448Pro) c.1216T>C c.1184T>C (p.Leu395Pro) c.509T>C c.1022T>C c.1318T>C c.1088T>C (p.Leu363Pro) n.2179T>C c.892T>C c.621T>C c.1088T>C c.1346T>C (p.Leu449Pro) n.1134T>C c.942T>C | |
| 2 | g.32137137T>G | CA346502440 | SPAST | c.*1102T>G (n.*1102T>G) c.1442T>G (p.Leu481Arg) c.1439T>G (p.Leu480Arg) c.1179T>G c.1343T>G (p.Leu448Arg) c.1216T>G c.1184T>G (p.Leu395Arg) c.509T>G c.1022T>G c.1318T>G c.1088T>G (p.Leu363Arg) n.2179T>G c.892T>G c.621T>G c.1088T>G c.1346T>G (p.Leu449Arg) n.1134T>G c.942T>G | |
| 2 | g.32137137T= | CA1242502047 | SPAST | c.*1102T= (n.*1102T=) c.1442T= (p.Leu481=) c.1439T= (p.Leu480=) c.1179T= c.1343T= (p.Leu448=) c.1216T= c.1184T= (p.Leu395=) c.509T= c.1022T= c.1318T= c.1088T= (p.Leu363=) n.2179T= c.892T= c.621T= c.1088T= c.1346T= (p.Leu449=) n.1134T= c.942T= | |
| 2 | g.32137137_32137138insA | CA658657027 | SPAST | c.*1102_*1103insA (n.*1102_*1103insA) c.1442_1443insA (p.Val482CysfsTer6) c.1439_1440insA (p.Val481CysfsTer6) c.1179_1180insA c.1343_1344insA (p.Val449CysfsTer6) c.1216_1217insA c.1184_1185insA (p.Val396CysfsTer6) c.509_510insA c.1022_1023insA c.1318_1319insA c.1088_1089insA (p.Val364CysfsTer6) n.2179_2180insA c.892_893insA c.621_622insA c.1088_1089insA c.1346_1347insA (p.Val450CysfsTer6) n.1134_1135insA c.942_943insA | ClinVar dbSNP |
| 2 | g.32137138T>A | CA425449191 | SPAST | c.*1103T>A (n.*1103T>A) c.1443T>A (p.Leu481=) c.1440T>A (p.Leu480=) c.1180T>A c.1344T>A (p.Leu448=) c.1217T>A c.1185T>A (p.Leu395=) c.510T>A c.1023T>A c.1319T>A c.1089T>A (p.Leu363=) n.2180T>A c.893T>A c.622T>A c.1089T>A c.1347T>A (p.Leu449=) n.1135T>A c.943T>A | |
| 2 | g.32137138T>C | CA425449190 | SPAST | c.*1103T>C (n.*1103T>C) c.1443T>C (p.Leu481=) c.1440T>C (p.Leu480=) c.1180T>C c.1344T>C (p.Leu448=) c.1217T>C c.1185T>C (p.Leu395=) c.510T>C c.1023T>C c.1319T>C c.1089T>C (p.Leu363=) n.2180T>C c.893T>C c.622T>C c.1089T>C c.1347T>C (p.Leu449=) n.1135T>C c.943T>C | |
| 2 | g.32137138T>G | CA425449189 | SPAST | c.*1103T>G (n.*1103T>G) c.1443T>G (p.Leu481=) c.1440T>G (p.Leu480=) c.1180T>G c.1344T>G (p.Leu448=) c.1217T>G c.1185T>G (p.Leu395=) c.510T>G c.1023T>G c.1319T>G c.1089T>G (p.Leu363=) n.2180T>G c.893T>G c.622T>G c.1089T>G c.1347T>G (p.Leu449=) n.1135T>G c.943T>G | |
| 2 | g.32137139G>A | CA346502441 | SPAST | c.*1104G>A (n.*1104G>A) c.1444G>A (p.Val482Ile) c.1441G>A (p.Val481Ile) c.1181G>A c.1345G>A (p.Val449Ile) c.1218G>A c.1186G>A (p.Val396Ile) c.511G>A c.1024G>A c.1320G>A c.1090G>A (p.Val364Ile) n.2181G>A c.894G>A c.623G>A c.1090G>A c.1348G>A (p.Val450Ile) n.1136G>A c.944G>A | gnomAD v4 |
| 2 | g.32137139G>C | CA346502442 | SPAST | c.*1104G>C (n.*1104G>C) c.1444G>C (p.Val482Leu) c.1441G>C (p.Val481Leu) c.1181G>C c.1345G>C (p.Val449Leu) c.1218G>C c.1186G>C (p.Val396Leu) c.511G>C c.1024G>C c.1320G>C c.1090G>C (p.Val364Leu) n.2181G>C c.894G>C c.623G>C c.1090G>C c.1348G>C (p.Val450Leu) n.1136G>C c.944G>C | dbSNP |
| 2 | g.32137139G= | CA1242502056 | SPAST | c.*1104G= (n.*1104G=) c.1444G= (p.Val482=) c.1441G= (p.Val481=) c.1181G= c.1345G= (p.Val449=) c.1218G= c.1186G= (p.Val396=) c.511G= c.1024G= c.1320G= c.1090G= (p.Val364=) n.2181G= c.894G= c.623G= c.1090G= c.1348G= (p.Val450=) n.1136G= c.944G= | |
| 2 | g.32137139G>T | CA346502443 | SPAST | c.*1104G>T (n.*1104G>T) c.1444G>T (p.Val482Leu) c.1441G>T (p.Val481Leu) c.1181G>T c.1345G>T (p.Val449Leu) c.1218G>T c.1186G>T (p.Val396Leu) c.511G>T c.1024G>T c.1320G>T c.1090G>T (p.Val364Leu) n.2181G>T c.894G>T c.623G>T c.1090G>T c.1348G>T (p.Val450Leu) n.1136G>T c.944G>T | |
| 2 | g.32137140T>A | CA346502444 | SPAST | c.*1105T>A (n.*1105T>A) c.1445T>A (p.Val482Glu) c.1442T>A (p.Val481Glu) c.1182T>A c.1346T>A (p.Val449Glu) c.1219T>A c.1187T>A (p.Val396Glu) c.512T>A c.1025T>A c.1321T>A c.1091T>A (p.Val364Glu) n.2182T>A c.895T>A c.624T>A c.1091T>A c.1349T>A (p.Val450Glu) n.1137T>A c.945T>A | |
| 2 | g.32137140T>C | CA346502445 | SPAST | c.*1105T>C (n.*1105T>C) c.1445T>C (p.Val482Ala) c.1442T>C (p.Val481Ala) c.1182T>C c.1346T>C (p.Val449Ala) c.1219T>C c.1187T>C (p.Val396Ala) c.512T>C c.1025T>C c.1321T>C c.1091T>C (p.Val364Ala) n.2182T>C c.895T>C c.624T>C c.1091T>C c.1349T>C (p.Val450Ala) n.1137T>C c.945T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32137140T>G | CA346502446 | SPAST | c.*1105T>G (n.*1105T>G) c.1445T>G (p.Val482Gly) c.1442T>G (p.Val481Gly) c.1182T>G c.1346T>G (p.Val449Gly) c.1219T>G c.1187T>G (p.Val396Gly) c.512T>G c.1025T>G c.1321T>G c.1091T>G (p.Val364Gly) n.2182T>G c.895T>G c.624T>G c.1091T>G c.1349T>G (p.Val450Gly) n.1137T>G c.945T>G | |
| 2 | g.32137140T= | CA1242502059 | SPAST | c.*1105T= (n.*1105T=) c.1445T= (p.Val482=) c.1442T= (p.Val481=) c.1182T= c.1346T= (p.Val449=) c.1219T= c.1187T= (p.Val396=) c.512T= c.1025T= c.1321T= c.1091T= (p.Val364=) n.2182T= c.895T= c.624T= c.1091T= c.1349T= (p.Val450=) n.1137T= c.945T= | |
| 2 | g.32137141A= | CA1242502063 | SPAST | c.*1106A= (n.*1106A=) c.1446A= (p.Val482=) c.1443A= (p.Val481=) c.1183A= c.1347A= (p.Val449=) c.1220A= c.1188A= (p.Val396=) c.513A= c.1026A= c.1322A= c.1092A= (p.Val364=) n.2183A= c.896A= c.625A= c.1092A= c.1350A= (p.Val450=) n.1138A= c.946A= | |
| 2 | g.32137141A>C | CA425449192 | SPAST | c.*1106A>C (n.*1106A>C) c.1446A>C (p.Val482=) c.1443A>C (p.Val481=) c.1183A>C c.1347A>C (p.Val449=) c.1220A>C c.1188A>C (p.Val396=) c.513A>C c.1026A>C c.1322A>C c.1092A>C (p.Val364=) n.2183A>C c.896A>C c.625A>C c.1092A>C c.1350A>C (p.Val450=) n.1138A>C c.946A>C | dbSNP |
| 2 | g.32137141A>G | CA425449193 | SPAST | c.*1106A>G (n.*1106A>G) c.1446A>G (p.Val482=) c.1443A>G (p.Val481=) c.1183A>G c.1347A>G (p.Val449=) c.1220A>G c.1188A>G (p.Val396=) c.513A>G c.1026A>G c.1322A>G c.1092A>G (p.Val364=) n.2183A>G c.896A>G c.625A>G c.1092A>G c.1350A>G (p.Val450=) n.1138A>G c.946A>G | |
| 2 | g.32137141A>T | CA425449194 | SPAST | c.*1106A>T (n.*1106A>T) c.1446A>T (p.Val482=) c.1443A>T (p.Val481=) c.1183A>T c.1347A>T (p.Val449=) c.1220A>T c.1188A>T (p.Val396=) c.513A>T c.1026A>T c.1322A>T c.1092A>T (p.Val364=) n.2183A>T c.896A>T c.625A>T c.1092A>T c.1350A>T (p.Val450=) n.1138A>T c.946A>T | |
| 2 | g.32137142A>C | CA346502447 | SPAST | c.*1107A>C (n.*1107A>C) c.1447A>C (p.Met483Leu) c.1444A>C (p.Met482Leu) c.1184A>C c.1348A>C (p.Met450Leu) c.1221A>C c.1189A>C (p.Met397Leu) c.514A>C c.1027A>C c.1323A>C c.1093A>C (p.Met365Leu) n.2184A>C c.897A>C c.626A>C c.1093A>C c.1351A>C (p.Met451Leu) n.1139A>C c.947A>C |