| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32122577_32129489del | CA2573051932 | SPAST | c.*759-4371_*905+1010del c.1099-4371_1245+1010del c.1096-4371_1242+1010del c.982+6365_983-7074del c.1000-4371_1146+1010del c.873-4371_1019+1010del c.841-4371_987+1010del c.258-4371_404+1010del c.679-4371_825+1010del c.975-4371_1121+1010del c.745-4371_891+1010del c.549-4371_695+1010del c.446-4371_592+1010del c.1003-4371_1149+1010del n.791-4371_937+1010del c.674-5831_745+1010del | ClinVar |
| 2 | g.32125886_32135221del | CA339674 | SPAST | c.*759-1062_*906-1342del c.1099-1062_1246-1342del c.1096-1062_1243-1342del c.982+9674_983-1342del c.1000-1062_1147-1342del c.873-1062_1020-1342del c.841-1062_988-1342del c.258-1062_405-1342del c.679-1062_826-1342del c.975-1062_1122-1342del c.745-1062_892-1342del c.549-1062_696-1342del c.446-1062_593-1888del c.1003-1062_1150-1342del n.791-1062_938-1342del c.674-2522_746-1342del | ClinVar |
| 2 | g.32125992_32134891del | CA339692 | SPAST | c.*759-956_*906-1672del c.1099-956_1246-1672del c.1096-956_1243-1672del c.982+9780_983-1672del c.1000-956_1147-1672del c.873-956_1020-1672del c.841-956_988-1672del c.258-956_405-1672del c.679-956_826-1672del c.975-956_1122-1672del c.745-956_892-1672del c.549-956_696-1672del c.446-956_593-2218del c.1003-956_1150-1672del n.791-956_938-1672del c.674-2416_746-1672del | ClinVar |
| 2 | g.32127009_32127019del | CA2586964682 | SPAST | c.*820_*830del (n.*820_*830del) c.1160_1170del (p.Gly387AlafsTer3) c.1157_1167del (p.Gly386AlafsTer3) c.983-9554_983-9544del c.1061_1071del (p.Gly354AlafsTer3) c.934_944del c.902_912del (p.Gly301AlafsTer3) c.319_329del c.740_750del c.1036_1046del c.806_816del (p.Gly269AlafsTer3) n.512_522del n.373_383del c.610_620del c.507_517del c.806_816del c.1064_1074del (p.Gly355AlafsTer3) n.852_862del c.674-1399_674-1389del | |
| 2 | g.32127010_32127019del | CA2586964685 | SPAST | c.*821_*830del (n.*821_*830del) c.1161_1170del (p.Lys388TrpfsTer5) c.1158_1167del (p.Lys387TrpfsTer5) c.983-9553_983-9544del c.1062_1071del (p.Lys355TrpfsTer5) c.935_944del c.903_912del (p.Lys302TrpfsTer5) c.320_329del c.741_750del c.1037_1046del c.807_816del (p.Lys270TrpfsTer5) n.513_522del n.374_383del c.611_620del c.508_517del c.807_816del c.1065_1074del (p.Lys356TrpfsTer5) n.853_862del c.674-1398_674-1389del | |
| 2 | g.32127014A= | CA1242497428 | SPAST | c.*825A= (n.*825A=) c.1165A= (p.Thr389=) c.1162A= (p.Thr388=) c.983-9549A= c.1066A= (p.Thr356=) c.939A= c.907A= (p.Thr303=) c.324A= c.745A= c.1041A= c.811A= (p.Thr271=) n.517A= n.378A= c.615A= c.512A= c.811A= c.1069A= (p.Thr357=) n.857A= c.674-1394A= | |
| 2 | g.32127014A>C | CA346501332 | SPAST | c.*825A>C (n.*825A>C) c.1165A>C (p.Thr389Pro) c.1162A>C (p.Thr388Pro) c.983-9549A>C c.1066A>C (p.Thr356Pro) c.939A>C c.907A>C (p.Thr303Pro) c.324A>C c.745A>C c.1041A>C c.811A>C (p.Thr271Pro) n.517A>C n.378A>C c.615A>C c.512A>C c.811A>C c.1069A>C (p.Thr357Pro) n.857A>C c.674-1394A>C | |
| 2 | g.32127014A>G | CA334274 | SPAST | c.*825A>G (n.*825A>G) c.1165A>G (p.Thr389Ala) c.1162A>G (p.Thr388Ala) c.983-9549A>G c.1066A>G (p.Thr356Ala) c.939A>G c.907A>G (p.Thr303Ala) c.324A>G c.745A>G c.1041A>G c.811A>G (p.Thr271Ala) n.517A>G n.378A>G c.615A>G c.512A>G c.811A>G c.1069A>G (p.Thr357Ala) n.857A>G c.674-1394A>G | ClinVar dbSNP |
| 2 | g.32127014A>T | CA346501331 | SPAST | c.*825A>T (n.*825A>T) c.1165A>T (p.Thr389Ser) c.1162A>T (p.Thr388Ser) c.983-9549A>T c.1066A>T (p.Thr356Ser) c.939A>T c.907A>T (p.Thr303Ser) c.324A>T c.745A>T c.1041A>T c.811A>T (p.Thr271Ser) n.517A>T n.378A>T c.615A>T c.512A>T c.811A>T c.1069A>T (p.Thr357Ser) n.857A>T c.674-1394A>T | |
| 2 | g.32127015C>A | CA346501333 | SPAST | c.*826C>A (n.*826C>A) c.1166C>A (p.Thr389Lys) c.1163C>A (p.Thr388Lys) c.983-9548C>A c.1067C>A (p.Thr356Lys) c.940C>A c.908C>A (p.Thr303Lys) c.325C>A c.746C>A c.1042C>A c.812C>A (p.Thr271Lys) n.518C>A n.379C>A c.616C>A c.513C>A c.812C>A c.1070C>A (p.Thr357Lys) n.858C>A c.674-1393C>A | gnomAD v4 |
| 2 | g.32127015C>G | CA346501334 | SPAST | c.*826C>G (n.*826C>G) c.1166C>G (p.Thr389Arg) c.1163C>G (p.Thr388Arg) c.983-9548C>G c.1067C>G (p.Thr356Arg) c.940C>G c.908C>G (p.Thr303Arg) c.325C>G c.746C>G c.1042C>G c.812C>G (p.Thr271Arg) n.518C>G n.379C>G c.616C>G c.513C>G c.812C>G c.1070C>G (p.Thr357Arg) n.858C>G c.674-1393C>G | |
| 2 | g.32127015C>T | CA346501335 | SPAST | c.*826C>T (n.*826C>T) c.1166C>T (p.Thr389Ile) c.1163C>T (p.Thr388Ile) c.983-9548C>T c.1067C>T (p.Thr356Ile) c.940C>T c.908C>T (p.Thr303Ile) c.325C>T c.746C>T c.1042C>T c.812C>T (p.Thr271Ile) n.518C>T n.379C>T c.616C>T c.513C>T c.812C>T c.1070C>T (p.Thr357Ile) n.858C>T c.674-1393C>T | |
| 2 | g.32127015_32127017delinsCAA | CA1242497429 | SPAST | c.*826_*828delinsCAA (n.*826_*828delinsCAA) c.1166_1168delinsCAA (p.Thr389=) c.1163_1165delinsCAA (p.Thr388=) c.983-9548_983-9546delinsCAA c.1067_1069delinsCAA (p.Thr356=) c.940_942delinsCAA c.908_910delinsCAA (p.Thr303=) c.325_327delinsCAA c.746_748delinsCAA c.1042_1044delinsCAA c.812_814delinsCAA (p.Thr271=) n.518_520delinsCAA n.379_381delinsCAA c.616_618delinsCAA c.513_515delinsCAA c.812_814delinsCAA c.1070_1072delinsCAA (p.Thr357=) n.858_860delinsCAA c.674-1393_674-1391delinsCAA | |
| 2 | g.32127016A>C | CA425446644 | SPAST | c.*827A>C (n.*827A>C) c.1167A>C (p.Thr389=) c.1164A>C (p.Thr388=) c.983-9547A>C c.1068A>C (p.Thr356=) c.941A>C c.909A>C (p.Thr303=) c.326A>C c.747A>C c.1043A>C c.813A>C (p.Thr271=) n.519A>C n.380A>C c.617A>C c.514A>C c.813A>C c.1071A>C (p.Thr357=) n.859A>C c.674-1392A>C | |
| 2 | g.32127016A>G | CA425446646 | SPAST | c.*827A>G (n.*827A>G) c.1167A>G (p.Thr389=) c.1164A>G (p.Thr388=) c.983-9547A>G c.1068A>G (p.Thr356=) c.941A>G c.909A>G (p.Thr303=) c.326A>G c.747A>G c.1043A>G c.813A>G (p.Thr271=) n.519A>G n.380A>G c.617A>G c.514A>G c.813A>G c.1071A>G (p.Thr357=) n.859A>G c.674-1392A>G | |
| 2 | g.32127016A>T | CA425446647 | SPAST | c.*827A>T (n.*827A>T) c.1167A>T (p.Thr389=) c.1164A>T (p.Thr388=) c.983-9547A>T c.1068A>T (p.Thr356=) c.941A>T c.909A>T (p.Thr303=) c.326A>T c.747A>T c.1043A>T c.813A>T (p.Thr271=) n.519A>T n.380A>T c.617A>T c.514A>T c.813A>T c.1071A>T (p.Thr357=) n.859A>T c.674-1392A>T | |
| 2 | g.32127016_32127017del | CA658657022 | SPAST | c.*827_*828del (n.*827_*828del) c.1167_1168del (p.Met390AlafsTer3) c.1164_1165del (p.Met389AlafsTer3) c.983-9547_983-9546del c.1068_1069del (p.Met357AlafsTer3) c.941_942del c.909_910del (p.Met304AlafsTer3) c.326_327del c.747_748del c.1043_1044del c.813_814del (p.Met272AlafsTer3) n.519_520del n.380_381del c.617_618del c.514_515del c.813_814del c.1071_1072del (p.Met358AlafsTer3) n.859_860del c.674-1392_674-1391del | ClinVar dbSNP |
| 2 | g.32127017A= | CA1242497430 | SPAST | c.*828A= (n.*828A=) c.1168A= (p.Met390=) c.1165A= (p.Met389=) c.983-9546A= c.1069A= (p.Met357=) c.942A= c.910A= (p.Met304=) c.327A= c.748A= c.1044A= c.814A= (p.Met272=) n.520A= n.381A= c.618A= c.515A= c.814A= c.1072A= (p.Met358=) n.860A= c.674-1391A= | |
| 2 | g.32127017A>C | CA346501336 | SPAST | c.*828A>C (n.*828A>C) c.1168A>C (p.Met390Leu) c.1165A>C (p.Met389Leu) c.983-9546A>C c.1069A>C (p.Met357Leu) c.942A>C c.910A>C (p.Met304Leu) c.327A>C c.748A>C c.1044A>C c.814A>C (p.Met272Leu) n.520A>C n.381A>C c.618A>C c.515A>C c.814A>C c.1072A>C (p.Met358Leu) n.860A>C c.674-1391A>C | |
| 2 | g.32127017A>G | CA204591 | SPAST | c.*828A>G (n.*828A>G) c.1168A>G (p.Met390Val) c.1165A>G (p.Met389Val) c.983-9546A>G c.1069A>G (p.Met357Val) c.942A>G c.910A>G (p.Met304Val) c.327A>G c.748A>G c.1044A>G c.814A>G (p.Met272Val) n.520A>G n.381A>G c.618A>G c.515A>G c.814A>G c.1072A>G (p.Met358Val) n.860A>G c.674-1391A>G | ClinVar dbSNP |
| 2 | g.32127017A>T | CA346501337 | SPAST | c.*828A>T (n.*828A>T) c.1168A>T (p.Met390Leu) c.1165A>T (p.Met389Leu) c.983-9546A>T c.1069A>T (p.Met357Leu) c.942A>T c.910A>T (p.Met304Leu) c.327A>T c.748A>T c.1044A>T c.814A>T (p.Met272Leu) n.520A>T n.381A>T c.618A>T c.515A>T c.814A>T c.1072A>T (p.Met358Leu) n.860A>T c.674-1391A>T | |
| 2 | g.32127018T>A | CA346501338 | SPAST | c.*829T>A (n.*829T>A) c.1169T>A (p.Met390Lys) c.1166T>A (p.Met389Lys) c.983-9545T>A c.1070T>A (p.Met357Lys) c.943T>A c.911T>A (p.Met304Lys) c.328T>A c.749T>A c.1045T>A c.815T>A (p.Met272Lys) n.521T>A n.382T>A c.619T>A c.516T>A c.815T>A c.1073T>A (p.Met358Lys) n.861T>A c.674-1390T>A | ClinVar dbSNP |
| 2 | g.32127018T>C | CA346501340 | SPAST | c.*829T>C (n.*829T>C) c.1169T>C (p.Met390Thr) c.1166T>C (p.Met389Thr) c.983-9545T>C c.1070T>C (p.Met357Thr) c.943T>C c.911T>C (p.Met304Thr) c.328T>C c.749T>C c.1045T>C c.815T>C (p.Met272Thr) n.521T>C n.382T>C c.619T>C c.516T>C c.815T>C c.1073T>C (p.Met358Thr) n.861T>C c.674-1390T>C | ClinVar dbSNP |
| 2 | g.32127018T>G | CA346501339 | SPAST | c.*829T>G (n.*829T>G) c.1169T>G (p.Met390Arg) c.1166T>G (p.Met389Arg) c.983-9545T>G c.1070T>G (p.Met357Arg) c.943T>G c.911T>G (p.Met304Arg) c.328T>G c.749T>G c.1045T>G c.815T>G (p.Met272Arg) n.521T>G n.382T>G c.619T>G c.516T>G c.815T>G c.1073T>G (p.Met358Arg) n.861T>G c.674-1390T>G | |
| 2 | g.32127018T= | CA1242497431 | SPAST | c.*829T= (n.*829T=) c.1169T= (p.Met390=) c.1166T= (p.Met389=) c.983-9545T= c.1070T= (p.Met357=) c.943T= c.911T= (p.Met304=) c.328T= c.749T= c.1045T= c.815T= (p.Met272=) n.521T= n.382T= c.619T= c.516T= c.815T= c.1073T= (p.Met358=) n.861T= c.674-1390T= | |
| 2 | g.32127019G>A | CA346501341 | SPAST | c.*830G>A (n.*830G>A) c.1170G>A (p.Met390Ile) c.1167G>A (p.Met389Ile) c.983-9544G>A c.1071G>A (p.Met357Ile) c.944G>A c.912G>A (p.Met304Ile) c.329G>A c.750G>A c.1046G>A c.816G>A (p.Met272Ile) n.522G>A n.383G>A c.620G>A c.517G>A c.816G>A c.1074G>A (p.Met358Ile) n.862G>A c.674-1389G>A | ClinVar dbSNP |
| 2 | g.32127019G>C | CA346501343 | SPAST | c.*830G>C (n.*830G>C) c.1170G>C (p.Met390Ile) c.1167G>C (p.Met389Ile) c.983-9544G>C c.1071G>C (p.Met357Ile) c.944G>C c.912G>C (p.Met304Ile) c.329G>C c.750G>C c.1046G>C c.816G>C (p.Met272Ile) n.522G>C n.383G>C c.620G>C c.517G>C c.816G>C c.1074G>C (p.Met358Ile) n.862G>C c.674-1389G>C | |
| 2 | g.32127019G= | CA1242497432 | SPAST | c.*830G= (n.*830G=) c.1170G= (p.Met390=) c.1167G= (p.Met389=) c.983-9544G= c.1071G= (p.Met357=) c.944G= c.912G= (p.Met304=) c.329G= c.750G= c.1046G= c.816G= (p.Met272=) n.522G= n.383G= c.620G= c.517G= c.816G= c.1074G= (p.Met358=) n.862G= c.674-1389G= | |
| 2 | g.32127019G>T | CA346501342 | SPAST | c.*830G>T (n.*830G>T) c.1170G>T (p.Met390Ile) c.1167G>T (p.Met389Ile) c.983-9544G>T c.1071G>T (p.Met357Ile) c.944G>T c.912G>T (p.Met304Ile) c.329G>T c.750G>T c.1046G>T c.816G>T (p.Met272Ile) n.522G>T n.383G>T c.620G>T c.517G>T c.816G>T c.1074G>T (p.Met358Ile) n.862G>T c.674-1389G>T | |
| 2 | g.32127020C>A | CA1600812 | SPAST | c.*831C>A (n.*831C>A) c.1171C>A (p.Leu391Met) c.1168C>A (p.Leu390Met) c.983-9543C>A c.1072C>A (p.Leu358Met) c.945C>A c.913C>A (p.Leu305Met) c.330C>A c.751C>A c.1047C>A c.817C>A (p.Leu273Met) n.523C>A n.384C>A c.621C>A c.518C>A c.817C>A c.1075C>A (p.Leu359Met) n.863C>A c.674-1388C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32127020C= | CA1242497433 | SPAST | c.*831C= (n.*831C=) c.1171C= (p.Leu391=) c.1168C= (p.Leu390=) c.983-9543C= c.1072C= (p.Leu358=) c.945C= c.913C= (p.Leu305=) c.330C= c.751C= c.1047C= c.817C= (p.Leu273=) n.523C= n.384C= c.621C= c.518C= c.817C= c.1075C= (p.Leu359=) n.863C= c.674-1388C= | |
| 2 | g.32127020C>G | CA346501344 | SPAST | c.*831C>G (n.*831C>G) c.1171C>G (p.Leu391Val) c.1168C>G (p.Leu390Val) c.983-9543C>G c.1072C>G (p.Leu358Val) c.945C>G c.913C>G (p.Leu305Val) c.330C>G c.751C>G c.1047C>G c.817C>G (p.Leu273Val) n.523C>G n.384C>G c.621C>G c.518C>G c.817C>G c.1075C>G (p.Leu359Val) n.863C>G c.674-1388C>G | |
| 2 | g.32127020C>T | CA425446651 | SPAST | c.*831C>T (n.*831C>T) c.1171C>T (p.Leu391=) c.1168C>T (p.Leu390=) c.983-9543C>T c.1072C>T (p.Leu358=) c.945C>T c.913C>T (p.Leu305=) c.330C>T c.751C>T c.1047C>T c.817C>T (p.Leu273=) n.523C>T n.384C>T c.621C>T c.518C>T c.817C>T c.1075C>T (p.Leu359=) n.863C>T c.674-1388C>T | gnomAD v4 |
| 2 | g.32127021T>A | CA346501345 | SPAST | c.*832T>A (n.*832T>A) c.1172T>A (p.Leu391Gln) c.1169T>A (p.Leu390Gln) c.983-9542T>A c.1073T>A (p.Leu358Gln) c.946T>A c.914T>A (p.Leu305Gln) c.331T>A c.752T>A c.1048T>A c.818T>A (p.Leu273Gln) n.524T>A n.385T>A c.622T>A c.519T>A c.818T>A c.1076T>A (p.Leu359Gln) n.864T>A c.674-1387T>A | dbSNP |
| 2 | g.32127021T>C | CA346501347 | SPAST | c.*832T>C (n.*832T>C) c.1172T>C (p.Leu391Pro) c.1169T>C (p.Leu390Pro) c.983-9542T>C c.1073T>C (p.Leu358Pro) c.946T>C c.914T>C (p.Leu305Pro) c.331T>C c.752T>C c.1048T>C c.818T>C (p.Leu273Pro) n.524T>C n.385T>C c.622T>C c.519T>C c.818T>C c.1076T>C (p.Leu359Pro) n.864T>C c.674-1387T>C | dbSNP gnomAD v4 |
| 2 | g.32127021T>G | CA346501346 | SPAST | c.*832T>G (n.*832T>G) c.1172T>G (p.Leu391Arg) c.1169T>G (p.Leu390Arg) c.983-9542T>G c.1073T>G (p.Leu358Arg) c.946T>G c.914T>G (p.Leu305Arg) c.331T>G c.752T>G c.1048T>G c.818T>G (p.Leu273Arg) n.524T>G n.385T>G c.622T>G c.519T>G c.818T>G c.1076T>G (p.Leu359Arg) n.864T>G c.674-1387T>G | |
| 2 | g.32127021T= | CA1242497434 | SPAST | c.*832T= (n.*832T=) c.1172T= (p.Leu391=) c.1169T= (p.Leu390=) c.983-9542T= c.1073T= (p.Leu358=) c.946T= c.914T= (p.Leu305=) c.331T= c.752T= c.1048T= c.818T= (p.Leu273=) n.524T= n.385T= c.622T= c.519T= c.818T= c.1076T= (p.Leu359=) n.864T= c.674-1387T= | |
| 2 | g.32127022G>A | CA425446654 | SPAST | c.*833G>A (n.*833G>A) c.1173G>A (p.Leu391=) c.1170G>A (p.Leu390=) c.983-9541G>A c.1074G>A (p.Leu358=) c.947G>A c.915G>A (p.Leu305=) c.332G>A c.753G>A c.1049G>A c.819G>A (p.Leu273=) n.525G>A n.386G>A c.623G>A c.520G>A c.819G>A c.1077G>A (p.Leu359=) n.865G>A c.674-1386G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.32127022G>C | CA425446655 | SPAST | c.*833G>C (n.*833G>C) c.1173G>C (p.Leu391=) c.1170G>C (p.Leu390=) c.983-9541G>C c.1074G>C (p.Leu358=) c.947G>C c.915G>C (p.Leu305=) c.332G>C c.753G>C c.1049G>C c.819G>C (p.Leu273=) n.525G>C n.386G>C c.623G>C c.520G>C c.819G>C c.1077G>C (p.Leu359=) n.865G>C c.674-1386G>C | |
| 2 | g.32127022G= | CA1242497435 | SPAST | c.*833G= (n.*833G=) c.1173G= (p.Leu391=) c.1170G= (p.Leu390=) c.983-9541G= c.1074G= (p.Leu358=) c.947G= c.915G= (p.Leu305=) c.332G= c.753G= c.1049G= c.819G= (p.Leu273=) n.525G= n.386G= c.623G= c.520G= c.819G= c.1077G= (p.Leu359=) n.865G= c.674-1386G= | |
| 2 | g.32127022G>T | CA425446656 | SPAST | c.*833G>T (n.*833G>T) c.1173G>T (p.Leu391=) c.1170G>T (p.Leu390=) c.983-9541G>T c.1074G>T (p.Leu358=) c.947G>T c.915G>T (p.Leu305=) c.332G>T c.753G>T c.1049G>T c.819G>T (p.Leu273=) n.525G>T n.386G>T c.623G>T c.520G>T c.819G>T c.1077G>T (p.Leu359=) n.865G>T c.674-1386G>T | |
| 2 | g.32127023G>A | CA16610827 | SPAST | c.*833+1G>A (n.*833+1G>A) c.1173+1G>A (n.1173+1G>A) c.1170+1G>A (n.1170+1G>A) c.983-9540G>A c.1074+1G>A (n.1074+1G>A) c.947+1G>A c.915+1G>A (n.915+1G>A) c.332+1G>A c.753+1G>A c.1049+1G>A c.819+1G>A (n.819+1G>A) n.526G>A n.386+1G>A c.623+1G>A c.520+1G>A c.819+1G>A c.1077+1G>A (n.1077+1G>A) n.865+1G>A c.674-1385G>A | ClinVar dbSNP |
| 2 | g.32127023G>C | CA346501349 | SPAST | c.*833+1G>C (n.*833+1G>C) c.1173+1G>C (n.1173+1G>C) c.1170+1G>C (n.1170+1G>C) c.983-9540G>C c.1074+1G>C (n.1074+1G>C) c.947+1G>C c.915+1G>C (n.915+1G>C) c.332+1G>C c.753+1G>C c.1049+1G>C c.819+1G>C (n.819+1G>C) n.526G>C n.386+1G>C c.623+1G>C c.520+1G>C c.819+1G>C c.1077+1G>C (n.1077+1G>C) n.865+1G>C c.674-1385G>C | |
| 2 | g.32127023G= | CA1242497436 | SPAST | c.*833+1G= (n.*833+1G=) c.1173+1G= (n.1173+1G=) c.1170+1G= (n.1170+1G=) c.983-9540G= c.1074+1G= (n.1074+1G=) c.947+1G= c.915+1G= (n.915+1G=) c.332+1G= c.753+1G= c.1049+1G= c.819+1G= (n.819+1G=) n.526G= n.386+1G= c.623+1G= c.520+1G= c.819+1G= c.1077+1G= (n.1077+1G=) n.865+1G= c.674-1385G= | |
| 2 | g.32127023G>T | CA346501348 | SPAST | c.*833+1G>T (n.*833+1G>T) c.1173+1G>T (n.1173+1G>T) c.1170+1G>T (n.1170+1G>T) c.983-9540G>T c.1074+1G>T (n.1074+1G>T) c.947+1G>T c.915+1G>T (n.915+1G>T) c.332+1G>T c.753+1G>T c.1049+1G>T c.819+1G>T (n.819+1G>T) n.526G>T n.386+1G>T c.623+1G>T c.520+1G>T c.819+1G>T c.1077+1G>T (n.1077+1G>T) n.865+1G>T c.674-1385G>T | |
| 2 | g.32127024del | CA2576930331 | SPAST | c.*833+2del (n.*833+2del) c.1173+2del (n.1173+2del) c.1170+2del (n.1170+2del) c.983-9539del c.1074+2del (n.1074+2del) c.947+2del c.915+2del (n.915+2del) c.332+2del c.753+2del c.1049+2del c.819+2del (n.819+2del) n.527del n.386+2del c.623+2del c.520+2del c.819+2del c.1077+2del (n.1077+2del) n.865+2del c.674-1384del | |
| 2 | g.32127024T>A | CA346501350 | SPAST | c.*833+2T>A (n.*833+2T>A) c.1173+2T>A (n.1173+2T>A) c.1170+2T>A (n.1170+2T>A) c.983-9539T>A c.1074+2T>A (n.1074+2T>A) c.947+2T>A c.915+2T>A (n.915+2T>A) c.332+2T>A c.753+2T>A c.1049+2T>A c.819+2T>A (n.819+2T>A) n.527T>A n.386+2T>A c.623+2T>A c.520+2T>A c.819+2T>A c.1077+2T>A (n.1077+2T>A) n.865+2T>A c.674-1384T>A | |
| 2 | g.32127024T>C | CA346501351 | SPAST | c.*833+2T>C (n.*833+2T>C) c.1173+2T>C (n.1173+2T>C) c.1170+2T>C (n.1170+2T>C) c.983-9539T>C c.1074+2T>C (n.1074+2T>C) c.947+2T>C c.915+2T>C (n.915+2T>C) c.332+2T>C c.753+2T>C c.1049+2T>C c.819+2T>C (n.819+2T>C) n.527T>C n.386+2T>C c.623+2T>C c.520+2T>C c.819+2T>C c.1077+2T>C (n.1077+2T>C) n.865+2T>C c.674-1384T>C | |
| 2 | g.32127024T>G | CA346501352 | SPAST | c.*833+2T>G (n.*833+2T>G) c.1173+2T>G (n.1173+2T>G) c.1170+2T>G (n.1170+2T>G) c.983-9539T>G c.1074+2T>G (n.1074+2T>G) c.947+2T>G c.915+2T>G (n.915+2T>G) c.332+2T>G c.753+2T>G c.1049+2T>G c.819+2T>G (n.819+2T>G) n.527T>G n.386+2T>G c.623+2T>G c.520+2T>G c.819+2T>G c.1077+2T>G (n.1077+2T>G) n.865+2T>G c.674-1384T>G | |
| 2 | g.32127024dup | CA2586964701 | SPAST | c.*833+2dup (n.*833+2dup) c.1173+2dup (n.1173+2dup) c.1170+2dup (n.1170+2dup) c.983-9539dup c.1074+2dup (n.1074+2dup) c.947+2dup c.915+2dup (n.915+2dup) c.332+2dup c.753+2dup c.1049+2dup c.819+2dup (n.819+2dup) n.527dup n.386+2dup c.623+2dup c.520+2dup c.819+2dup c.1077+2dup (n.1077+2dup) n.865+2dup c.674-1384dup |