| 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.32136890C>A | CA253570 | SPAST | c.*995C>A (n.*995C>A) c.1335C>A (p.Ser445Arg) c.1332C>A (p.Ser444Arg) c.1072C>A c.1236C>A (p.Ser412Arg) c.1109C>A c.1077C>A (p.Ser359Arg) c.481-219C>A c.915C>A c.1211C>A c.981C>A (p.Ser327Arg) n.2072C>A c.785C>A c.593-219C>A c.981C>A c.1239C>A (p.Ser413Arg) n.1027C>A c.835C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.32136890C= | CA1242501555 | SPAST | c.*995C= (n.*995C=) c.1335C= (p.Ser445=) c.1332C= (p.Ser444=) c.1072C= c.1236C= (p.Ser412=) c.1109C= c.1077C= (p.Ser359=) c.481-219C= c.915C= c.1211C= c.981C= (p.Ser327=) n.2072C= c.785C= c.593-219C= c.981C= c.1239C= (p.Ser413=) n.1027C= c.835C= | |
| 2 | g.32136890C>G | CA346502188 | SPAST | c.*995C>G (n.*995C>G) c.1335C>G (p.Ser445Arg) c.1332C>G (p.Ser444Arg) c.1072C>G c.1236C>G (p.Ser412Arg) c.1109C>G c.1077C>G (p.Ser359Arg) c.481-219C>G c.915C>G c.1211C>G c.981C>G (p.Ser327Arg) n.2072C>G c.785C>G c.593-219C>G c.981C>G c.1239C>G (p.Ser413Arg) n.1027C>G c.835C>G | |
| 2 | g.32136890C>T | CA425448872 | SPAST | c.*995C>T (n.*995C>T) c.1335C>T (p.Ser445=) c.1332C>T (p.Ser444=) c.1072C>T c.1236C>T (p.Ser412=) c.1109C>T c.1077C>T (p.Ser359=) c.481-219C>T c.915C>T c.1211C>T c.981C>T (p.Ser327=) n.2072C>T c.785C>T c.593-219C>T c.981C>T c.1239C>T (p.Ser413=) n.1027C>T c.835C>T | |
| 2 | g.32136891C>A | CA346502189 | SPAST | c.*996C>A (n.*996C>A) c.1336C>A (p.Leu446Ile) c.1333C>A (p.Leu445Ile) c.1073C>A c.1237C>A (p.Leu413Ile) c.1110C>A c.1078C>A (p.Leu360Ile) c.481-218C>A c.916C>A c.1212C>A c.982C>A (p.Leu328Ile) n.2073C>A c.786C>A c.593-218C>A c.982C>A c.1240C>A (p.Leu414Ile) n.1028C>A c.836C>A | |
| 2 | g.32136891C>G | CA346502191 | SPAST | c.*996C>G (n.*996C>G) c.1336C>G (p.Leu446Val) c.1333C>G (p.Leu445Val) c.1073C>G c.1237C>G (p.Leu413Val) c.1110C>G c.1078C>G (p.Leu360Val) c.481-218C>G c.916C>G c.1212C>G c.982C>G (p.Leu328Val) n.2073C>G c.786C>G c.593-218C>G c.982C>G c.1240C>G (p.Leu414Val) n.1028C>G c.836C>G | gnomAD v4 |
| 2 | g.32136891C>T | CA346502190 | SPAST | c.*996C>T (n.*996C>T) c.1336C>T (p.Leu446Phe) c.1333C>T (p.Leu445Phe) c.1073C>T c.1237C>T (p.Leu413Phe) c.1110C>T c.1078C>T (p.Leu360Phe) c.481-218C>T c.916C>T c.1212C>T c.982C>T (p.Leu328Phe) n.2073C>T c.786C>T c.593-218C>T c.982C>T c.1240C>T (p.Leu414Phe) n.1028C>T c.836C>T | |
| 2 | g.32136891_32136893delinsCTT | CA1242501559 | SPAST | c.*996_*998delinsCTT (n.*996_*998delinsCTT) c.1336_1338delinsCTT (p.Leu446=) c.1333_1335delinsCTT (p.Leu445=) c.1073_1075delinsCTT c.1237_1239delinsCTT (p.Leu413=) c.1110_1112delinsCTT c.1078_1080delinsCTT (p.Leu360=) c.481-218_481-216delinsCTT c.916_918delinsCTT c.1212_1214delinsCTT c.982_984delinsCTT (p.Leu328=) n.2073_2075delinsCTT c.786_788delinsCTT c.593-218_593-216delinsCTT c.982_984delinsCTT c.1240_1242delinsCTT (p.Leu414=) n.1028_1030delinsCTT c.836_838delinsCTT | |
| 2 | g.32136892T>A | CA346502192 | SPAST | c.*997T>A (n.*997T>A) c.1337T>A (p.Leu446His) c.1334T>A (p.Leu445His) c.1074T>A c.1238T>A (p.Leu413His) c.1111T>A c.1079T>A (p.Leu360His) c.481-217T>A c.917T>A c.1213T>A c.983T>A (p.Leu328His) n.2074T>A c.787T>A c.593-217T>A c.983T>A c.1241T>A (p.Leu414His) n.1029T>A c.837T>A | |
| 2 | g.32136892T>C | CA346502194 | SPAST | c.*997T>C (n.*997T>C) c.1337T>C (p.Leu446Pro) c.1334T>C (p.Leu445Pro) c.1074T>C c.1238T>C (p.Leu413Pro) c.1111T>C c.1079T>C (p.Leu360Pro) c.481-217T>C c.917T>C c.1213T>C c.983T>C (p.Leu328Pro) n.2074T>C c.787T>C c.593-217T>C c.983T>C c.1241T>C (p.Leu414Pro) n.1029T>C c.837T>C | |
| 2 | g.32136892T>G | CA346502193 | SPAST | c.*997T>G (n.*997T>G) c.1337T>G (p.Leu446Arg) c.1334T>G (p.Leu445Arg) c.1074T>G c.1238T>G (p.Leu413Arg) c.1111T>G c.1079T>G (p.Leu360Arg) c.481-217T>G c.917T>G c.1213T>G c.983T>G (p.Leu328Arg) n.2074T>G c.787T>G c.593-217T>G c.983T>G c.1241T>G (p.Leu414Arg) n.1029T>G c.837T>G | |
| 2 | g.32136895del | CA2586964755 | SPAST | c.*1000del (n.*1000del) c.1340del (p.Leu447CysfsTer15) c.1337del (p.Leu446CysfsTer15) c.1077del c.1241del (p.Leu414CysfsTer15) c.1114del c.1082del (p.Leu361CysfsTer15) c.481-214del c.920del c.1216del c.986del (p.Leu329CysfsTer15) n.2077del c.790del c.593-214del c.986del c.1244del (p.Leu415CysfsTer15) n.1032del c.840del | |
| 2 | g.32136894_32136895del | CA1139656824 | SPAST | c.*999_*1000del (n.*999_*1000del) c.1339_1340del (p.Leu447ValfsTer2) c.1336_1337del (p.Leu446ValfsTer2) c.1076_1077del c.1240_1241del (p.Leu414ValfsTer2) c.1113_1114del c.1081_1082del (p.Leu361ValfsTer2) c.481-215_481-214del c.919_920del c.1215_1216del c.985_986del (p.Leu329ValfsTer2) n.2076_2077del c.789_790del c.593-215_593-214del c.985_986del c.1243_1244del (p.Leu415ValfsTer2) n.1031_1032del c.839_840del | ClinVar dbSNP |
| 2 | g.32136893T>A | CA425448885 | SPAST | c.*998T>A (n.*998T>A) c.1338T>A (p.Leu446=) c.1335T>A (p.Leu445=) c.1075T>A c.1239T>A (p.Leu413=) c.1112T>A c.1080T>A (p.Leu360=) c.481-216T>A c.918T>A c.1214T>A c.984T>A (p.Leu328=) n.2075T>A c.788T>A c.593-216T>A c.984T>A c.1242T>A (p.Leu414=) n.1030T>A c.838T>A | |
| 2 | g.32136893T>C | CA425448891 | SPAST | c.*998T>C (n.*998T>C) c.1338T>C (p.Leu446=) c.1335T>C (p.Leu445=) c.1075T>C c.1239T>C (p.Leu413=) c.1112T>C c.1080T>C (p.Leu360=) c.481-216T>C c.918T>C c.1214T>C c.984T>C (p.Leu328=) n.2075T>C c.788T>C c.593-216T>C c.984T>C c.1242T>C (p.Leu414=) n.1030T>C c.838T>C | gnomAD v4 |
| 2 | g.32136893T>G | CA425448894 | SPAST | c.*998T>G (n.*998T>G) c.1338T>G (p.Leu446=) c.1335T>G (p.Leu445=) c.1075T>G c.1239T>G (p.Leu413=) c.1112T>G c.1080T>G (p.Leu360=) c.481-216T>G c.918T>G c.1214T>G c.984T>G (p.Leu328=) n.2075T>G c.788T>G c.593-216T>G c.984T>G c.1242T>G (p.Leu414=) n.1030T>G c.838T>G | |
| 2 | g.32136894T>A | CA346502195 | SPAST | c.*999T>A (n.*999T>A) c.1339T>A (p.Leu447Met) c.1336T>A (p.Leu446Met) c.1076T>A c.1240T>A (p.Leu414Met) c.1113T>A c.1081T>A (p.Leu361Met) c.481-215T>A c.919T>A c.1215T>A c.985T>A (p.Leu329Met) n.2076T>A c.789T>A c.593-215T>A c.985T>A c.1243T>A (p.Leu415Met) n.1031T>A c.839T>A | |
| 2 | g.32136894T>C | CA425448897 | SPAST | c.*999T>C (n.*999T>C) c.1339T>C (p.Leu447=) c.1336T>C (p.Leu446=) c.1076T>C c.1240T>C (p.Leu414=) c.1113T>C c.1081T>C (p.Leu361=) c.481-215T>C c.919T>C c.1215T>C c.985T>C (p.Leu329=) n.2076T>C c.789T>C c.593-215T>C c.985T>C c.1243T>C (p.Leu415=) n.1031T>C c.839T>C | |
| 2 | g.32136894T>G | CA346502196 | SPAST | c.*999T>G (n.*999T>G) c.1339T>G (p.Leu447Val) c.1336T>G (p.Leu446Val) c.1076T>G c.1240T>G (p.Leu414Val) c.1113T>G c.1081T>G (p.Leu361Val) c.481-215T>G c.919T>G c.1215T>G c.985T>G (p.Leu329Val) n.2076T>G c.789T>G c.593-215T>G c.985T>G c.1243T>G (p.Leu415Val) n.1031T>G c.839T>G | dbSNP |
| 2 | g.32136894T= | CA1242501568 | SPAST | c.*999T= (n.*999T=) c.1339T= (p.Leu447=) c.1336T= (p.Leu446=) c.1076T= c.1240T= (p.Leu414=) c.1113T= c.1081T= (p.Leu361=) c.481-215T= c.919T= c.1215T= c.985T= (p.Leu329=) n.2076T= c.789T= c.593-215T= c.985T= c.1243T= (p.Leu415=) n.1031T= c.839T= | |
| 2 | g.32136895T>A | CA346502197 | SPAST | c.*1000T>A (n.*1000T>A) c.1340T>A (p.Leu447Ter) c.1337T>A (p.Leu446Ter) c.1077T>A c.1241T>A (p.Leu414Ter) c.1114T>A c.1082T>A (p.Leu361Ter) c.481-214T>A c.920T>A c.1216T>A c.986T>A (p.Leu329Ter) n.2077T>A c.790T>A c.593-214T>A c.986T>A c.1244T>A (p.Leu415Ter) n.1032T>A c.840T>A | |
| 2 | g.32136895T>C | CA346502198 | SPAST | c.*1000T>C (n.*1000T>C) c.1340T>C (p.Leu447Ser) c.1337T>C (p.Leu446Ser) c.1077T>C c.1241T>C (p.Leu414Ser) c.1114T>C c.1082T>C (p.Leu361Ser) c.481-214T>C c.920T>C c.1216T>C c.986T>C (p.Leu329Ser) n.2077T>C c.790T>C c.593-214T>C c.986T>C c.1244T>C (p.Leu415Ser) n.1032T>C c.840T>C | ClinVar dbSNP |
| 2 | g.32136895T>G | CA346502199 | SPAST | c.*1000T>G (n.*1000T>G) c.1340T>G (p.Leu447Trp) c.1337T>G (p.Leu446Trp) c.1077T>G c.1241T>G (p.Leu414Trp) c.1114T>G c.1082T>G (p.Leu361Trp) c.481-214T>G c.920T>G c.1216T>G c.986T>G (p.Leu329Trp) n.2077T>G c.790T>G c.593-214T>G c.986T>G c.1244T>G (p.Leu415Trp) n.1032T>G c.840T>G | |
| 2 | g.32136896G>A | CA425448902 | SPAST | c.*1001G>A (n.*1001G>A) c.1341G>A (p.Leu447=) c.1338G>A (p.Leu446=) c.1078G>A c.1242G>A (p.Leu414=) c.1115G>A c.1083G>A (p.Leu361=) c.481-213G>A c.921G>A c.1217G>A c.987G>A (p.Leu329=) n.2078G>A c.791G>A c.593-213G>A c.987G>A c.1245G>A (p.Leu415=) n.1033G>A c.841G>A | |
| 2 | g.32136896G>C | CA346502200 | SPAST | c.*1001G>C (n.*1001G>C) c.1341G>C (p.Leu447Phe) c.1338G>C (p.Leu446Phe) c.1078G>C c.1242G>C (p.Leu414Phe) c.1115G>C c.1083G>C (p.Leu361Phe) c.481-213G>C c.921G>C c.1217G>C c.987G>C (p.Leu329Phe) n.2078G>C c.791G>C c.593-213G>C c.987G>C c.1245G>C (p.Leu415Phe) n.1033G>C c.841G>C | |
| 2 | g.32136896G>T | CA346502201 | SPAST | c.*1001G>T (n.*1001G>T) c.1341G>T (p.Leu447Phe) c.1338G>T (p.Leu446Phe) c.1078G>T c.1242G>T (p.Leu414Phe) c.1115G>T c.1083G>T (p.Leu361Phe) c.481-213G>T c.921G>T c.1217G>T c.987G>T (p.Leu329Phe) n.2078G>T c.791G>T c.593-213G>T c.987G>T c.1245G>T (p.Leu415Phe) n.1033G>T c.841G>T | |
| 2 | g.32136897T>A | CA346502202 | SPAST | c.*1002T>A (n.*1002T>A) c.1342T>A (p.Cys448Ser) c.1339T>A (p.Cys447Ser) c.1079T>A c.1243T>A (p.Cys415Ser) c.1116T>A c.1084T>A (p.Cys362Ser) c.481-212T>A c.922T>A c.1218T>A c.988T>A (p.Cys330Ser) n.2079T>A c.792T>A c.593-212T>A c.988T>A c.1246T>A (p.Cys416Ser) n.1034T>A c.842T>A | |
| 2 | g.32136897T>C | CA346502203 | SPAST | c.*1002T>C (n.*1002T>C) c.1342T>C (p.Cys448Arg) c.1339T>C (p.Cys447Arg) c.1079T>C c.1243T>C (p.Cys415Arg) c.1116T>C c.1084T>C (p.Cys362Arg) c.481-212T>C c.922T>C c.1218T>C c.988T>C (p.Cys330Arg) n.2079T>C c.792T>C c.593-212T>C c.988T>C c.1246T>C (p.Cys416Arg) n.1034T>C c.842T>C | |
| 2 | g.32136897T>G | CA346502204 | SPAST | c.*1002T>G (n.*1002T>G) c.1342T>G (p.Cys448Gly) c.1339T>G (p.Cys447Gly) c.1079T>G c.1243T>G (p.Cys415Gly) c.1116T>G c.1084T>G (p.Cys362Gly) c.481-212T>G c.922T>G c.1218T>G c.988T>G (p.Cys330Gly) n.2079T>G c.792T>G c.593-212T>G c.988T>G c.1246T>G (p.Cys416Gly) n.1034T>G c.842T>G | |
| 2 | g.32136898G>A | CA253548 | SPAST | c.*1003G>A (n.*1003G>A) c.1343G>A (p.Cys448Tyr) c.1340G>A (p.Cys447Tyr) c.1080G>A c.1244G>A (p.Cys415Tyr) c.1117G>A c.1085G>A (p.Cys362Tyr) c.481-211G>A c.923G>A c.1219G>A c.989G>A (p.Cys330Tyr) n.2080G>A c.793G>A c.593-211G>A c.989G>A c.1247G>A (p.Cys416Tyr) n.1035G>A c.843G>A | ClinVar dbSNP |
| 2 | g.32136898G>C | CA346502206 | SPAST | c.*1003G>C (n.*1003G>C) c.1343G>C (p.Cys448Ser) c.1340G>C (p.Cys447Ser) c.1080G>C c.1244G>C (p.Cys415Ser) c.1117G>C c.1085G>C (p.Cys362Ser) c.481-211G>C c.923G>C c.1219G>C c.989G>C (p.Cys330Ser) n.2080G>C c.793G>C c.593-211G>C c.989G>C c.1247G>C (p.Cys416Ser) n.1035G>C c.843G>C | |
| 2 | g.32136898G= | CA1242501571 | SPAST | c.*1003G= (n.*1003G=) c.1343G= (p.Cys448=) c.1340G= (p.Cys447=) c.1080G= c.1244G= (p.Cys415=) c.1117G= c.1085G= (p.Cys362=) c.481-211G= c.923G= c.1219G= c.989G= (p.Cys330=) n.2080G= c.793G= c.593-211G= c.989G= c.1247G= (p.Cys416=) n.1035G= c.843G= | |
| 2 | g.32136898G>T | CA346502205 | SPAST | c.*1003G>T (n.*1003G>T) c.1343G>T (p.Cys448Phe) c.1340G>T (p.Cys447Phe) c.1080G>T c.1244G>T (p.Cys415Phe) c.1117G>T c.1085G>T (p.Cys362Phe) c.481-211G>T c.923G>T c.1219G>T c.989G>T (p.Cys330Phe) n.2080G>T c.793G>T c.593-211G>T c.989G>T c.1247G>T (p.Cys416Phe) n.1035G>T c.843G>T | |
| 2 | g.32136899T>A | CA346502207 | SPAST | c.*1004T>A (n.*1004T>A) c.1344T>A (p.Cys448Ter) c.1341T>A (p.Cys447Ter) c.1081T>A c.1245T>A (p.Cys415Ter) c.1118T>A c.1086T>A (p.Cys362Ter) c.481-210T>A c.924T>A c.1220T>A c.990T>A (p.Cys330Ter) n.2081T>A c.794T>A c.593-210T>A c.990T>A c.1248T>A (p.Cys416Ter) n.1036T>A c.844T>A | ClinVar dbSNP |
| 2 | g.32136899T>C | CA425448928 | SPAST | c.*1004T>C (n.*1004T>C) c.1344T>C (p.Cys448=) c.1341T>C (p.Cys447=) c.1081T>C c.1245T>C (p.Cys415=) c.1118T>C c.1086T>C (p.Cys362=) c.481-210T>C c.924T>C c.1220T>C c.990T>C (p.Cys330=) n.2081T>C c.794T>C c.593-210T>C c.990T>C c.1248T>C (p.Cys416=) n.1036T>C c.844T>C | |
| 2 | g.32136899T>G | CA346502208 | SPAST | c.*1004T>G (n.*1004T>G) c.1344T>G (p.Cys448Trp) c.1341T>G (p.Cys447Trp) c.1081T>G c.1245T>G (p.Cys415Trp) c.1118T>G c.1086T>G (p.Cys362Trp) c.481-210T>G c.924T>G c.1220T>G c.990T>G (p.Cys330Trp) n.2081T>G c.794T>G c.593-210T>G c.990T>G c.1248T>G (p.Cys416Trp) n.1036T>G c.844T>G | |
| 2 | g.32136900G>A | CA346502209 | SPAST | c.*1005G>A (n.*1005G>A) c.1345G>A (p.Glu449Lys) c.1342G>A (p.Glu448Lys) c.1082G>A c.1246G>A (p.Glu416Lys) c.1119G>A c.1087G>A (p.Glu363Lys) c.481-209G>A c.925G>A c.1221G>A c.991G>A (p.Glu331Lys) n.2082G>A c.795G>A c.593-209G>A c.991G>A c.1249G>A (p.Glu417Lys) n.1037G>A c.845G>A | |
| 2 | g.32136900G>C | CA346502210 | SPAST | c.*1005G>C (n.*1005G>C) c.1345G>C (p.Glu449Gln) c.1342G>C (p.Glu448Gln) c.1082G>C c.1246G>C (p.Glu416Gln) c.1119G>C c.1087G>C (p.Glu363Gln) c.481-209G>C c.925G>C c.1221G>C c.991G>C (p.Glu331Gln) n.2082G>C c.795G>C c.593-209G>C c.991G>C c.1249G>C (p.Glu417Gln) n.1037G>C c.845G>C | |
| 2 | g.32136900G>T | CA346502211 | SPAST | c.*1005G>T (n.*1005G>T) c.1345G>T (p.Glu449Ter) c.1342G>T (p.Glu448Ter) c.1082G>T c.1246G>T (p.Glu416Ter) c.1119G>T c.1087G>T (p.Glu363Ter) c.481-209G>T c.925G>T c.1221G>T c.991G>T (p.Glu331Ter) n.2082G>T c.795G>T c.593-209G>T c.991G>T c.1249G>T (p.Glu417Ter) n.1037G>T c.845G>T | ClinVar dbSNP |
| 2 | g.32136901A>C | CA346502212 | SPAST | c.*1006A>C (n.*1006A>C) c.1346A>C (p.Glu449Ala) c.1343A>C (p.Glu448Ala) c.1083A>C c.1247A>C (p.Glu416Ala) c.1120A>C c.1088A>C (p.Glu363Ala) c.481-208A>C c.926A>C c.1222A>C c.992A>C (p.Glu331Ala) n.2083A>C c.796A>C c.593-208A>C c.992A>C c.1250A>C (p.Glu417Ala) n.1038A>C c.846A>C | |
| 2 | g.32136901A>G | CA346502213 | SPAST | c.*1006A>G (n.*1006A>G) c.1346A>G (p.Glu449Gly) c.1343A>G (p.Glu448Gly) c.1083A>G c.1247A>G (p.Glu416Gly) c.1120A>G c.1088A>G (p.Glu363Gly) c.481-208A>G c.926A>G c.1222A>G c.992A>G (p.Glu331Gly) n.2083A>G c.796A>G c.593-208A>G c.992A>G c.1250A>G (p.Glu417Gly) n.1038A>G c.846A>G | |
| 2 | g.32136901A>T | CA346502214 | SPAST | c.*1006A>T (n.*1006A>T) c.1346A>T (p.Glu449Val) c.1343A>T (p.Glu448Val) c.1083A>T c.1247A>T (p.Glu416Val) c.1120A>T c.1088A>T (p.Glu363Val) c.481-208A>T c.926A>T c.1222A>T c.992A>T (p.Glu331Val) n.2083A>T c.796A>T c.593-208A>T c.992A>T c.1250A>T (p.Glu417Val) n.1038A>T c.846A>T | |
| 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= |