UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 | ClinVar |
| 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.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 | |
| 2 | g.32137142A>G | CA346502448 | SPAST | c.*1107A>G (n.*1107A>G) c.1447A>G (p.Met483Val) c.1444A>G (p.Met482Val) c.1184A>G c.1348A>G (p.Met450Val) c.1221A>G c.1189A>G (p.Met397Val) c.514A>G c.1027A>G c.1323A>G c.1093A>G (p.Met365Val) n.2184A>G c.897A>G c.626A>G c.1093A>G c.1351A>G (p.Met451Val) n.1139A>G c.947A>G | |
| 2 | g.32137142A>T | CA346502449 | SPAST | c.*1107A>T (n.*1107A>T) c.1447A>T (p.Met483Leu) c.1444A>T (p.Met482Leu) c.1184A>T c.1348A>T (p.Met450Leu) c.1221A>T c.1189A>T (p.Met397Leu) c.514A>T c.1027A>T c.1323A>T c.1093A>T (p.Met365Leu) n.2184A>T c.897A>T c.626A>T c.1093A>T c.1351A>T (p.Met451Leu) n.1139A>T c.947A>T | |
| 2 | g.32137142_32137143del | CA2586964778 | SPAST | c.*1107_*1108del (n.*1107_*1108del) c.1447_1448del (p.Met483GlyfsTer4) c.1444_1445del (p.Met482GlyfsTer4) c.1184_1185del c.1348_1349del (p.Met450GlyfsTer4) c.1221_1222del c.1189_1190del (p.Met397GlyfsTer4) c.514_515del c.1027_1028del c.1323_1324del c.1093_1094del (p.Met365GlyfsTer4) n.2184_2185del c.897_898del c.626_627del c.1093_1094del c.1351_1352del (p.Met451GlyfsTer4) n.1139_1140del c.947_948del | |
| 2 | g.32137143T>A | CA346502452 | SPAST | c.*1108T>A (n.*1108T>A) c.1448T>A (p.Met483Lys) c.1445T>A (p.Met482Lys) c.1185T>A c.1349T>A (p.Met450Lys) c.1222T>A c.1190T>A (p.Met397Lys) c.515T>A c.1028T>A c.1324T>A c.1094T>A (p.Met365Lys) n.2185T>A c.898T>A c.627T>A c.1094T>A c.1352T>A (p.Met451Lys) n.1140T>A c.948T>A | |
| 2 | g.32137143T>C | CA346502450 | SPAST | c.*1108T>C (n.*1108T>C) c.1448T>C (p.Met483Thr) c.1445T>C (p.Met482Thr) c.1185T>C c.1349T>C (p.Met450Thr) c.1222T>C c.1190T>C (p.Met397Thr) c.515T>C c.1028T>C c.1324T>C c.1094T>C (p.Met365Thr) n.2185T>C c.898T>C c.627T>C c.1094T>C c.1352T>C (p.Met451Thr) n.1140T>C c.948T>C | ClinVar dbSNP |
| 2 | g.32137143T>G | CA346502451 | SPAST | c.*1108T>G (n.*1108T>G) c.1448T>G (p.Met483Arg) c.1445T>G (p.Met482Arg) c.1185T>G c.1349T>G (p.Met450Arg) c.1222T>G c.1190T>G (p.Met397Arg) c.515T>G c.1028T>G c.1324T>G c.1094T>G (p.Met365Arg) n.2185T>G c.898T>G c.627T>G c.1094T>G c.1352T>G (p.Met451Arg) n.1140T>G c.948T>G | ClinVar |
| 2 | g.32137143T= | CA1242502068 | SPAST | c.*1108T= (n.*1108T=) c.1448T= (p.Met483=) c.1445T= (p.Met482=) c.1185T= c.1349T= (p.Met450=) c.1222T= c.1190T= (p.Met397=) c.515T= c.1028T= c.1324T= c.1094T= (p.Met365=) n.2185T= c.898T= c.627T= c.1094T= c.1352T= (p.Met451=) n.1140T= c.948T= | |
| 2 | g.32137143_32137144delinsTG | CA1242502070 | SPAST | c.*1108_*1109delinsTG (n.*1108_*1109delinsTG) c.1448_1449delinsTG (p.Met483=) c.1445_1446delinsTG (p.Met482=) c.1185_1186delinsTG c.1349_1350delinsTG (p.Met450=) c.1222_1223delinsTG c.1190_1191delinsTG (p.Met397=) c.515_516delinsTG c.1028_1029delinsTG c.1324_1325delinsTG c.1094_1095delinsTG (p.Met365=) n.2185_2186delinsTG c.898_899delinsTG c.627_628delinsTG c.1094_1095delinsTG c.1352_1353delinsTG (p.Met451=) n.1140_1141delinsTG c.948_949delinsTG | |
| 2 | g.32137144G>A | CA346502453 | SPAST | c.*1109G>A (n.*1109G>A) c.1449G>A (p.Met483Ile) c.1446G>A (p.Met482Ile) c.1186G>A c.1350G>A (p.Met450Ile) c.1223G>A c.1191G>A (p.Met397Ile) c.516G>A c.1029G>A c.1325G>A c.1095G>A (p.Met365Ile) n.2186G>A c.899G>A c.628G>A c.1095G>A c.1353G>A (p.Met451Ile) n.1141G>A c.949G>A | |
| 2 | g.32137144G>C | CA346502454 | SPAST | c.*1109G>C (n.*1109G>C) c.1449G>C (p.Met483Ile) c.1446G>C (p.Met482Ile) c.1186G>C c.1350G>C (p.Met450Ile) c.1223G>C c.1191G>C (p.Met397Ile) c.516G>C c.1029G>C c.1325G>C c.1095G>C (p.Met365Ile) n.2186G>C c.899G>C c.628G>C c.1095G>C c.1353G>C (p.Met451Ile) n.1141G>C c.949G>C | |
| 2 | g.32137144G>T | CA346502455 | SPAST | c.*1109G>T (n.*1109G>T) c.1449G>T (p.Met483Ile) c.1446G>T (p.Met482Ile) c.1186G>T c.1350G>T (p.Met450Ile) c.1223G>T c.1191G>T (p.Met397Ile) c.516G>T c.1029G>T c.1325G>T c.1095G>T (p.Met365Ile) n.2186G>T c.899G>T c.628G>T c.1095G>T c.1353G>T (p.Met451Ile) n.1141G>T c.949G>T | |
| 2 | g.32137146del | CA1242502073 | SPAST | c.*1111del (n.*1111del) c.1451del (p.Gly484ValfsTer?) c.1448del (p.Gly483ValfsTer?) c.1188del c.1352del (p.Gly451ValfsTer?) c.1225del c.1193del (p.Gly398ValfsTer?) c.518del c.1031del c.1327del c.1097del (p.Gly366ValfsTer?) n.2188del c.901del c.630del c.1097del c.1355del (p.Gly452ValfsTer?) n.1143del c.951del | dbSNP |
| 2 | g.32137145_32137146del | CA2586964779 | SPAST | c.*1110_*1111del (n.*1110_*1111del) c.1450_1451del (p.Gly484CysfsTer3) c.1447_1448del (p.Gly483CysfsTer3) c.1187_1188del c.1351_1352del (p.Gly451CysfsTer3) c.1224_1225del c.1192_1193del (p.Gly398CysfsTer3) c.517_518del c.1030_1031del c.1326_1327del c.1096_1097del (p.Gly366CysfsTer3) n.2187_2188del c.900_901del c.629_630del c.1096_1097del c.1354_1355del (p.Gly452CysfsTer3) n.1142_1143del c.950_951del | |
| 2 | g.32137145G>A | CA346502456 | SPAST | c.*1110G>A (n.*1110G>A) c.1450G>A (p.Gly484Ser) c.1447G>A (p.Gly483Ser) c.1187G>A c.1351G>A (p.Gly451Ser) c.1224G>A c.1192G>A (p.Gly398Ser) c.517G>A c.1030G>A c.1326G>A c.1096G>A (p.Gly366Ser) n.2187G>A c.900G>A c.629G>A c.1096G>A c.1354G>A (p.Gly452Ser) n.1142G>A c.950G>A | |
| 2 | g.32137145G>C | CA346502457 | SPAST | c.*1110G>C (n.*1110G>C) c.1450G>C (p.Gly484Arg) c.1447G>C (p.Gly483Arg) c.1187G>C c.1351G>C (p.Gly451Arg) c.1224G>C c.1192G>C (p.Gly398Arg) c.517G>C c.1030G>C c.1326G>C c.1096G>C (p.Gly366Arg) n.2187G>C c.900G>C c.629G>C c.1096G>C c.1354G>C (p.Gly452Arg) n.1142G>C c.950G>C | ClinVar dbSNP |
| 2 | g.32137145G= | CA1242502076 | SPAST | c.*1110G= (n.*1110G=) c.1450G= (p.Gly484=) c.1447G= (p.Gly483=) c.1187G= c.1351G= (p.Gly451=) c.1224G= c.1192G= (p.Gly398=) c.517G= c.1030G= c.1326G= c.1096G= (p.Gly366=) n.2187G= c.900G= c.629G= c.1096G= c.1354G= (p.Gly452=) n.1142G= c.950G= | |
| 2 | g.32137145G>T | CA346502458 | SPAST | c.*1110G>T (n.*1110G>T) c.1450G>T (p.Gly484Cys) c.1447G>T (p.Gly483Cys) c.1187G>T c.1351G>T (p.Gly451Cys) c.1224G>T c.1192G>T (p.Gly398Cys) c.517G>T c.1030G>T c.1326G>T c.1096G>T (p.Gly366Cys) n.2187G>T c.900G>T c.629G>T c.1096G>T c.1354G>T (p.Gly452Cys) n.1142G>T c.950G>T | |
| 2 | g.32137146G>A | CA346502459 | SPAST | c.*1111G>A (n.*1111G>A) c.1451G>A (p.Gly484Asp) c.1448G>A (p.Gly483Asp) c.1188G>A c.1352G>A (p.Gly451Asp) c.1225G>A c.1193G>A (p.Gly398Asp) c.518G>A c.1031G>A c.1327G>A c.1097G>A (p.Gly366Asp) n.2188G>A c.901G>A c.630G>A c.1097G>A c.1355G>A (p.Gly452Asp) n.1143G>A c.951G>A | ClinVar dbSNP |
| 2 | g.32137146G>C | CA346502460 | SPAST | c.*1111G>C (n.*1111G>C) c.1451G>C (p.Gly484Ala) c.1448G>C (p.Gly483Ala) c.1188G>C c.1352G>C (p.Gly451Ala) c.1225G>C c.1193G>C (p.Gly398Ala) c.518G>C c.1031G>C c.1327G>C c.1097G>C (p.Gly366Ala) n.2188G>C c.901G>C c.630G>C c.1097G>C c.1355G>C (p.Gly452Ala) n.1143G>C c.951G>C | |
| 2 | g.32137146G= | CA1242502086 | SPAST | c.*1111G= (n.*1111G=) c.1451G= (p.Gly484=) c.1448G= (p.Gly483=) c.1188G= c.1352G= (p.Gly451=) c.1225G= c.1193G= (p.Gly398=) c.518G= c.1031G= c.1327G= c.1097G= (p.Gly366=) n.2188G= c.901G= c.630G= c.1097G= c.1355G= (p.Gly452=) n.1143G= c.951G= | |
| 2 | g.32137146G>T | CA346502461 | SPAST | c.*1111G>T (n.*1111G>T) c.1451G>T (p.Gly484Val) c.1448G>T (p.Gly483Val) c.1188G>T c.1352G>T (p.Gly451Val) c.1225G>T c.1193G>T (p.Gly398Val) c.518G>T c.1031G>T c.1327G>T c.1097G>T (p.Gly366Val) n.2188G>T c.901G>T c.630G>T c.1097G>T c.1355G>T (p.Gly452Val) n.1143G>T c.951G>T | |
| 2 | g.32137147T>A | CA425449195 | SPAST | c.*1112T>A (n.*1112T>A) c.1452T>A (p.Gly484=) c.1449T>A (p.Gly483=) c.1189T>A c.1353T>A (p.Gly451=) c.1226T>A c.1194T>A (p.Gly398=) c.519T>A c.1032T>A c.1328T>A c.1098T>A (p.Gly366=) n.2189T>A c.902T>A c.631T>A c.1098T>A c.1356T>A (p.Gly452=) n.1144T>A c.952T>A | |
| 2 | g.32137147T>C | CA425449196 | SPAST | c.*1112T>C (n.*1112T>C) c.1452T>C (p.Gly484=) c.1449T>C (p.Gly483=) c.1189T>C c.1353T>C (p.Gly451=) c.1226T>C c.1194T>C (p.Gly398=) c.519T>C c.1032T>C c.1328T>C c.1098T>C (p.Gly366=) n.2189T>C c.902T>C c.631T>C c.1098T>C c.1356T>C (p.Gly452=) n.1144T>C c.952T>C | dbSNP gnomAD v2 |
| 2 | g.32137147T>G | CA425449197 | SPAST | c.*1112T>G (n.*1112T>G) c.1452T>G (p.Gly484=) c.1449T>G (p.Gly483=) c.1189T>G c.1353T>G (p.Gly451=) c.1226T>G c.1194T>G (p.Gly398=) c.519T>G c.1032T>G c.1328T>G c.1098T>G (p.Gly366=) n.2189T>G c.902T>G c.631T>G c.1098T>G c.1356T>G (p.Gly452=) n.1144T>G c.952T>G | |
| 2 | g.32137147T= | CA1242502095 | SPAST | c.*1112T= (n.*1112T=) c.1452T= (p.Gly484=) c.1449T= (p.Gly483=) c.1189T= c.1353T= (p.Gly451=) c.1226T= c.1194T= (p.Gly398=) c.519T= c.1032T= c.1328T= c.1098T= (p.Gly366=) n.2189T= c.902T= c.631T= c.1098T= c.1356T= (p.Gly452=) n.1144T= c.952T= | |
| 2 | g.32137147_32137157delinsTGCAACTAATA | CA1242502093 | SPAST | c.*1112_*1122delinsTGCAACTAATA (n.*1112_*1122delinsTGCAACTAATA) c.1452_1462delinsTGCAACTAATA (p.Gly484=) c.1449_1459delinsTGCAACTAATA (p.Gly483=) c.1189_1199delinsTGCAACTAATA c.1353_1363delinsTGCAACTAATA (p.Gly451=) c.1226_1236delinsTGCAACTAATA c.1194_1204delinsTGCAACTAATA (p.Gly398=) c.519_529delinsTGCAACTAATA c.1032_1042delinsTGCAACTAATA c.1328_1338delinsTGCAACTAATA c.1098_1108delinsTGCAACTAATA (p.Gly366=) n.2189_2199delinsTGCAACTAATA c.902_912delinsTGCAACTAATA c.631_641delinsTGCAACTAATA c.1098_1108delinsTGCAACTAATA c.1356_1366delinsTGCAACTAATA (p.Gly452=) n.1144_1154delinsTGCAACTAATA c.952_962delinsTGCAACTAATA | |
| 2 | g.32137148G>A | CA346502462 | SPAST | c.*1113G>A (n.*1113G>A) c.1453G>A (p.Ala485Thr) c.1450G>A (p.Ala484Thr) c.1190G>A c.1354G>A (p.Ala452Thr) c.1227G>A c.1195G>A (p.Ala399Thr) c.520G>A c.1033G>A c.1329G>A c.1099G>A (p.Ala367Thr) n.2190G>A c.903G>A c.632G>A c.1099G>A c.1357G>A (p.Ala453Thr) n.1145G>A c.953G>A | |
| 2 | g.32137148G>C | CA346502463 | SPAST | c.*1113G>C (n.*1113G>C) c.1453G>C (p.Ala485Pro) c.1450G>C (p.Ala484Pro) c.1190G>C c.1354G>C (p.Ala452Pro) c.1227G>C c.1195G>C (p.Ala399Pro) c.520G>C c.1033G>C c.1329G>C c.1099G>C (p.Ala367Pro) n.2190G>C c.903G>C c.632G>C c.1099G>C c.1357G>C (p.Ala453Pro) n.1145G>C c.953G>C | |
| 2 | g.32137148G>T | CA346502464 | SPAST | c.*1113G>T (n.*1113G>T) c.1453G>T (p.Ala485Ser) c.1450G>T (p.Ala484Ser) c.1190G>T c.1354G>T (p.Ala452Ser) c.1227G>T c.1195G>T (p.Ala399Ser) c.520G>T c.1033G>T c.1329G>T c.1099G>T (p.Ala367Ser) n.2190G>T c.903G>T c.632G>T c.1099G>T c.1357G>T (p.Ala453Ser) n.1145G>T c.953G>T | |
| 2 | g.32137149_32137158del | CA915943726 | SPAST | c.*1114_*1123del (n.*1114_*1123del) c.1454_1463del (p.Ala485GlyfsTer?) c.1451_1460del (p.Ala484GlyfsTer?) c.1191_1200del c.1355_1364del (p.Ala452GlyfsTer?) c.1228_1237del c.1196_1205del (p.Ala399GlyfsTer?) c.521_530del c.1034_1043del c.1330_1339del c.1100_1109del (p.Ala367GlyfsTer?) n.2191_2200del c.904_913del c.633_642del c.1100_1109del c.1358_1367del (p.Ala453GlyfsTer?) n.1146_1155del c.954_963del | ClinVar dbSNP |
| 2 | g.32137149C>A | CA346502466 | SPAST | c.*1114C>A (n.*1114C>A) c.1454C>A (p.Ala485Glu) c.1451C>A (p.Ala484Glu) c.1191C>A c.1355C>A (p.Ala452Glu) c.1228C>A c.1196C>A (p.Ala399Glu) c.521C>A c.1034C>A c.1330C>A c.1100C>A (p.Ala367Glu) n.2191C>A c.904C>A c.633C>A c.1100C>A c.1358C>A (p.Ala453Glu) n.1146C>A c.954C>A | |
| 2 | g.32137149C= | CA1242502103 | SPAST | c.*1114C= (n.*1114C=) c.1454C= (p.Ala485=) c.1451C= (p.Ala484=) c.1191C= c.1355C= (p.Ala452=) c.1228C= c.1196C= (p.Ala399=) c.521C= c.1034C= c.1330C= c.1100C= (p.Ala367=) n.2191C= c.904C= c.633C= c.1100C= c.1358C= (p.Ala453=) n.1146C= c.954C= | |
| 2 | g.32137149C>G | CA44750166 | SPAST | c.*1114C>G (n.*1114C>G) c.1454C>G (p.Ala485Gly) c.1451C>G (p.Ala484Gly) c.1191C>G c.1355C>G (p.Ala452Gly) c.1228C>G c.1196C>G (p.Ala399Gly) c.521C>G c.1034C>G c.1330C>G c.1100C>G (p.Ala367Gly) n.2191C>G c.904C>G c.633C>G c.1100C>G c.1358C>G (p.Ala453Gly) n.1146C>G c.954C>G | dbSNP |
| 2 | g.32137149C>T | CA346502465 | SPAST | c.*1114C>T (n.*1114C>T) c.1454C>T (p.Ala485Val) c.1451C>T (p.Ala484Val) c.1191C>T c.1355C>T (p.Ala452Val) c.1228C>T c.1196C>T (p.Ala399Val) c.521C>T c.1034C>T c.1330C>T c.1100C>T (p.Ala367Val) n.2191C>T c.904C>T c.633C>T c.1100C>T c.1358C>T (p.Ala453Val) n.1146C>T c.954C>T | dbSNP |
| 2 | g.32137150A>C | CA425449200 | SPAST | c.*1115A>C (n.*1115A>C) c.1455A>C (p.Ala485=) c.1452A>C (p.Ala484=) c.1192A>C c.1356A>C (p.Ala452=) c.1229A>C c.1197A>C (p.Ala399=) c.522A>C c.1035A>C c.1331A>C c.1101A>C (p.Ala367=) n.2192A>C c.905A>C c.634A>C c.1101A>C c.1359A>C (p.Ala453=) n.1147A>C c.955A>C | |
| 2 | g.32137150A>G | CA425449198 | SPAST | c.*1115A>G (n.*1115A>G) c.1455A>G (p.Ala485=) c.1452A>G (p.Ala484=) c.1192A>G c.1356A>G (p.Ala452=) c.1229A>G c.1197A>G (p.Ala399=) c.522A>G c.1035A>G c.1331A>G c.1101A>G (p.Ala367=) n.2192A>G c.905A>G c.634A>G c.1101A>G c.1359A>G (p.Ala453=) n.1147A>G c.955A>G | |
| 2 | g.32137150A>T | CA425449199 | SPAST | c.*1115A>T (n.*1115A>T) c.1455A>T (p.Ala485=) c.1452A>T (p.Ala484=) c.1192A>T c.1356A>T (p.Ala452=) c.1229A>T c.1197A>T (p.Ala399=) c.522A>T c.1035A>T c.1331A>T c.1101A>T (p.Ala367=) n.2192A>T c.905A>T c.634A>T c.1101A>T c.1359A>T (p.Ala453=) n.1147A>T c.955A>T |