WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.32136620C>A | CA346502103 | SPAST | c.*963C>A (n.*963C>A) c.1303C>A (p.Pro435Thr) c.1300C>A (p.Pro434Thr) c.1040C>A c.1204C>A (p.Pro402Thr) c.1077C>A c.1045C>A (p.Pro349Thr) c.462C>A c.883C>A c.1179C>A c.949C>A (p.Pro317Thr) n.2040C>A c.753C>A c.593-489C>A c.949C>A c.1207C>A (p.Pro403Thr) n.995C>A c.803C>A | ClinVar gnomAD v4 |
| 2 | g.32136620C= | CA1242501242 | SPAST | c.*963C= (n.*963C=) c.1303C= (p.Pro435=) c.1300C= (p.Pro434=) c.1040C= c.1204C= (p.Pro402=) c.1077C= c.1045C= (p.Pro349=) c.462C= c.883C= c.1179C= c.949C= (p.Pro317=) n.2040C= c.753C= c.593-489C= c.949C= c.1207C= (p.Pro403=) n.995C= c.803C= | |
| 2 | g.32136620C>G | CA346502104 | SPAST | c.*963C>G (n.*963C>G) c.1303C>G (p.Pro435Ala) c.1300C>G (p.Pro434Ala) c.1040C>G c.1204C>G (p.Pro402Ala) c.1077C>G c.1045C>G (p.Pro349Ala) c.462C>G c.883C>G c.1179C>G c.949C>G (p.Pro317Ala) n.2040C>G c.753C>G c.593-489C>G c.949C>G c.1207C>G (p.Pro403Ala) n.995C>G c.803C>G | |
| 2 | g.32136620C>T | CA16617529 | SPAST | c.*963C>T (n.*963C>T) c.1303C>T (p.Pro435Ser) c.1300C>T (p.Pro434Ser) c.1040C>T c.1204C>T (p.Pro402Ser) c.1077C>T c.1045C>T (p.Pro349Ser) c.462C>T c.883C>T c.1179C>T c.949C>T (p.Pro317Ser) n.2040C>T c.753C>T c.593-489C>T c.949C>T c.1207C>T (p.Pro403Ser) n.995C>T c.803C>T | ClinVar dbSNP |
| 2 | g.32136621C>A | CA346502107 | SPAST | c.*964C>A (n.*964C>A) c.1304C>A (p.Pro435His) c.1301C>A (p.Pro434His) c.1041C>A c.1205C>A (p.Pro402His) c.1078C>A c.1046C>A (p.Pro349His) c.463C>A c.884C>A c.1180C>A c.950C>A (p.Pro317His) n.2041C>A c.754C>A c.593-488C>A c.950C>A c.1208C>A (p.Pro403His) n.996C>A c.804C>A | |
| 2 | g.32136621C= | CA1242501250 | SPAST | c.*964C= (n.*964C=) c.1304C= (p.Pro435=) c.1301C= (p.Pro434=) c.1041C= c.1205C= (p.Pro402=) c.1078C= c.1046C= (p.Pro349=) c.463C= c.884C= c.1180C= c.950C= (p.Pro317=) n.2041C= c.754C= c.593-488C= c.950C= c.1208C= (p.Pro403=) n.996C= c.804C= | |
| 2 | g.32136621C>G | CA346502106 | SPAST | c.*964C>G (n.*964C>G) c.1304C>G (p.Pro435Arg) c.1301C>G (p.Pro434Arg) c.1041C>G c.1205C>G (p.Pro402Arg) c.1078C>G c.1046C>G (p.Pro349Arg) c.463C>G c.884C>G c.1180C>G c.950C>G (p.Pro317Arg) n.2041C>G c.754C>G c.593-488C>G c.950C>G c.1208C>G (p.Pro403Arg) n.996C>G c.804C>G | |
| 2 | g.32136621C>T | CA346502105 | SPAST | c.*964C>T (n.*964C>T) c.1304C>T (p.Pro435Leu) c.1301C>T (p.Pro434Leu) c.1041C>T c.1205C>T (p.Pro402Leu) c.1078C>T c.1046C>T (p.Pro349Leu) c.463C>T c.884C>T c.1180C>T c.950C>T (p.Pro317Leu) n.2041C>T c.754C>T c.593-488C>T c.950C>T c.1208C>T (p.Pro403Leu) n.996C>T c.804C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.32136623_32136625del | CA2573134499 | SPAST | c.*966_*968del (n.*966_*968del) c.1306_1308del (p.Ser436del) c.1303_1305del (p.Ser435del) c.1043_1045del c.1207_1209del (p.Ser403del) c.1080_1082del c.1048_1050del (p.Ser350del) c.465_467del c.886_888del c.1182_1184del c.952_954del (p.Ser318del) n.2043_2045del c.756_758del c.593-486_593-484del c.952_954del c.1210_1212del (p.Ser404del) n.998_1000del c.806_808del | ClinVar dbSNP |
| 2 | g.32136621_32136627dup | CA2697547952 | SPAST | c.*964_*970dup (n.*964_*970dup) c.1304_1310dup (p.Ile438PhefsTer7) c.1301_1307dup (p.Ile437PhefsTer7) c.1041_1047dup c.1205_1211dup (p.Ile405PhefsTer7) c.1078_1084dup c.1046_1052dup (p.Ile352PhefsTer7) c.463_469dup c.884_890dup c.1180_1186dup c.950_956dup (p.Ile320PhefsTer7) n.2041_2047dup c.754_760dup c.593-488_593-482dup c.950_956dup c.1208_1214dup (p.Ile406PhefsTer7) n.996_1002dup c.804_810dup | ClinVar |
| 2 | g.32136622T>A | CA425448620 | SPAST | c.*965T>A (n.*965T>A) c.1305T>A (p.Pro435=) c.1302T>A (p.Pro434=) c.1042T>A c.1206T>A (p.Pro402=) c.1079T>A c.1047T>A (p.Pro349=) c.464T>A c.885T>A c.1181T>A c.951T>A (p.Pro317=) n.2042T>A c.755T>A c.593-487T>A c.951T>A c.1209T>A (p.Pro403=) n.997T>A c.805T>A | |
| 2 | g.32136622T>C | CA425448617 | SPAST | c.*965T>C (n.*965T>C) c.1305T>C (p.Pro435=) c.1302T>C (p.Pro434=) c.1042T>C c.1206T>C (p.Pro402=) c.1079T>C c.1047T>C (p.Pro349=) c.464T>C c.885T>C c.1181T>C c.951T>C (p.Pro317=) n.2042T>C c.755T>C c.593-487T>C c.951T>C c.1209T>C (p.Pro403=) n.997T>C c.805T>C | |
| 2 | g.32136622T>G | CA425448618 | SPAST | c.*965T>G (n.*965T>G) c.1305T>G (p.Pro435=) c.1302T>G (p.Pro434=) c.1042T>G c.1206T>G (p.Pro402=) c.1079T>G c.1047T>G (p.Pro349=) c.464T>G c.885T>G c.1181T>G c.951T>G (p.Pro317=) n.2042T>G c.755T>G c.593-487T>G c.951T>G c.1209T>G (p.Pro403=) n.997T>G c.805T>G | |
| 2 | g.32136623T>A | CA346502108 | SPAST | c.*966T>A (n.*966T>A) c.1306T>A (p.Ser436Thr) c.1303T>A (p.Ser435Thr) c.1043T>A c.1207T>A (p.Ser403Thr) c.1080T>A c.1048T>A (p.Ser350Thr) c.465T>A c.886T>A c.1182T>A c.952T>A (p.Ser318Thr) n.2043T>A c.756T>A c.593-486T>A c.952T>A c.1210T>A (p.Ser404Thr) n.998T>A c.806T>A | |
| 2 | g.32136623T>C | CA346502109 | SPAST | c.*966T>C (n.*966T>C) c.1306T>C (p.Ser436Pro) c.1303T>C (p.Ser435Pro) c.1043T>C c.1207T>C (p.Ser403Pro) c.1080T>C c.1048T>C (p.Ser350Pro) c.465T>C c.886T>C c.1182T>C c.952T>C (p.Ser318Pro) n.2043T>C c.756T>C c.593-486T>C c.952T>C c.1210T>C (p.Ser404Pro) n.998T>C c.806T>C | ClinVar dbSNP |
| 2 | g.32136623T>G | CA346502110 | SPAST | c.*966T>G (n.*966T>G) c.1306T>G (p.Ser436Ala) c.1303T>G (p.Ser435Ala) c.1043T>G c.1207T>G (p.Ser403Ala) c.1080T>G c.1048T>G (p.Ser350Ala) c.465T>G c.886T>G c.1182T>G c.952T>G (p.Ser318Ala) n.2043T>G c.756T>G c.593-486T>G c.952T>G c.1210T>G (p.Ser404Ala) n.998T>G c.806T>G | |
| 2 | g.32136624C>A | CA346502111 | SPAST | c.*967C>A (n.*967C>A) c.1307C>A (p.Ser436Tyr) c.1304C>A (p.Ser435Tyr) c.1044C>A c.1208C>A (p.Ser403Tyr) c.1081C>A c.1049C>A (p.Ser350Tyr) c.466C>A c.887C>A c.1183C>A c.953C>A (p.Ser318Tyr) n.2044C>A c.757C>A c.593-485C>A c.953C>A c.1211C>A (p.Ser404Tyr) n.999C>A c.807C>A | ClinVar dbSNP |
| 2 | g.32136624C= | CA1242501254 | SPAST | c.*967C= (n.*967C=) c.1307C= (p.Ser436=) c.1304C= (p.Ser435=) c.1044C= c.1208C= (p.Ser403=) c.1081C= c.1049C= (p.Ser350=) c.466C= c.887C= c.1183C= c.953C= (p.Ser318=) n.2044C= c.757C= c.593-485C= c.953C= c.1211C= (p.Ser404=) n.999C= c.807C= | |
| 2 | g.32136624C>G | CA346502112 | SPAST | c.*967C>G (n.*967C>G) c.1307C>G (p.Ser436Cys) c.1304C>G (p.Ser435Cys) c.1044C>G c.1208C>G (p.Ser403Cys) c.1081C>G c.1049C>G (p.Ser350Cys) c.466C>G c.887C>G c.1183C>G c.953C>G (p.Ser318Cys) n.2044C>G c.757C>G c.593-485C>G c.953C>G c.1211C>G (p.Ser404Cys) n.999C>G c.807C>G | gnomAD v4 |
| 2 | g.32136624C>T | CA346502113 | SPAST | c.*967C>T (n.*967C>T) c.1307C>T (p.Ser436Phe) c.1304C>T (p.Ser435Phe) c.1044C>T c.1208C>T (p.Ser403Phe) c.1081C>T c.1049C>T (p.Ser350Phe) c.466C>T c.887C>T c.1183C>T c.953C>T (p.Ser318Phe) n.2044C>T c.757C>T c.593-485C>T c.953C>T c.1211C>T (p.Ser404Phe) n.999C>T c.807C>T | ClinVar dbSNP |
| 2 | g.32136625T>A | CA425448636 | SPAST | c.*968T>A (n.*968T>A) c.1308T>A (p.Ser436=) c.1305T>A (p.Ser435=) c.1045T>A c.1209T>A (p.Ser403=) c.1082T>A c.1050T>A (p.Ser350=) c.467T>A c.888T>A c.1184T>A c.954T>A (p.Ser318=) n.2045T>A c.758T>A c.593-484T>A c.954T>A c.1212T>A (p.Ser404=) n.1000T>A c.808T>A | |
| 2 | g.32136625T>C | CA425448638 | SPAST | c.*968T>C (n.*968T>C) c.1308T>C (p.Ser436=) c.1305T>C (p.Ser435=) c.1045T>C c.1209T>C (p.Ser403=) c.1082T>C c.1050T>C (p.Ser350=) c.467T>C c.888T>C c.1184T>C c.954T>C (p.Ser318=) n.2045T>C c.758T>C c.593-484T>C c.954T>C c.1212T>C (p.Ser404=) n.1000T>C c.808T>C | dbSNP |
| 2 | g.32136625T>G | CA425448640 | SPAST | c.*968T>G (n.*968T>G) c.1308T>G (p.Ser436=) c.1305T>G (p.Ser435=) c.1045T>G c.1209T>G (p.Ser403=) c.1082T>G c.1050T>G (p.Ser350=) c.467T>G c.888T>G c.1184T>G c.954T>G (p.Ser318=) n.2045T>G c.758T>G c.593-484T>G c.954T>G c.1212T>G (p.Ser404=) n.1000T>G c.808T>G | |
| 2 | g.32136625T= | CA1242501258 | SPAST | c.*968T= (n.*968T=) c.1308T= (p.Ser436=) c.1305T= (p.Ser435=) c.1045T= c.1209T= (p.Ser403=) c.1082T= c.1050T= (p.Ser350=) c.467T= c.888T= c.1184T= c.954T= (p.Ser318=) n.2045T= c.758T= c.593-484T= c.954T= c.1212T= (p.Ser404=) n.1000T= c.808T= | |
| 2 | g.32136625dup | CA2586964750 | SPAST | c.*968dup (n.*968dup) c.1308dup (p.Ile437TyrfsTer6) c.1305dup (p.Ile436TyrfsTer6) c.1045dup c.1209dup (p.Ile404TyrfsTer6) c.1082dup c.1050dup (p.Ile351TyrfsTer6) c.467dup c.888dup c.1184dup c.954dup (p.Ile319TyrfsTer6) n.2045dup c.758dup c.593-484dup c.954dup c.1212dup (p.Ile405TyrfsTer6) n.1000dup c.808dup | |
| 2 | g.32136626A>C | CA346502114 | SPAST | c.*969A>C (n.*969A>C) c.1309A>C (p.Ile437Leu) c.1306A>C (p.Ile436Leu) c.1046A>C c.1210A>C (p.Ile404Leu) c.1083A>C c.1051A>C (p.Ile351Leu) c.468A>C c.889A>C c.1185A>C c.955A>C (p.Ile319Leu) n.2046A>C c.759A>C c.593-483A>C c.955A>C c.1213A>C (p.Ile405Leu) n.1001A>C c.809A>C | |
| 2 | g.32136626A>G | CA346502115 | SPAST | c.*969A>G (n.*969A>G) c.1309A>G (p.Ile437Val) c.1306A>G (p.Ile436Val) c.1046A>G c.1210A>G (p.Ile404Val) c.1083A>G c.1051A>G (p.Ile351Val) c.468A>G c.889A>G c.1185A>G c.955A>G (p.Ile319Val) n.2046A>G c.759A>G c.593-483A>G c.955A>G c.1213A>G (p.Ile405Val) n.1001A>G c.809A>G | gnomAD v4 |
| 2 | g.32136626A>T | CA346502116 | SPAST | c.*969A>T (n.*969A>T) c.1309A>T (p.Ile437Leu) c.1306A>T (p.Ile436Leu) c.1046A>T c.1210A>T (p.Ile404Leu) c.1083A>T c.1051A>T (p.Ile351Leu) c.468A>T c.889A>T c.1185A>T c.955A>T (p.Ile319Leu) n.2046A>T c.759A>T c.593-483A>T c.955A>T c.1213A>T (p.Ile405Leu) n.1001A>T c.809A>T | |
| 2 | g.32136627T>A | CA346502117 | SPAST | c.*970T>A (n.*970T>A) c.1310T>A (p.Ile437Lys) c.1307T>A (p.Ile436Lys) c.1047T>A c.1211T>A (p.Ile404Lys) c.1084T>A c.1052T>A (p.Ile351Lys) c.469T>A c.890T>A c.1186T>A c.956T>A (p.Ile319Lys) n.2047T>A c.760T>A c.593-482T>A c.956T>A c.1214T>A (p.Ile405Lys) n.1002T>A c.810T>A | |
| 2 | g.32136627T>C | CA346502118 | SPAST | c.*970T>C (n.*970T>C) c.1310T>C (p.Ile437Thr) c.1307T>C (p.Ile436Thr) c.1047T>C c.1211T>C (p.Ile404Thr) c.1084T>C c.1052T>C (p.Ile351Thr) c.469T>C c.890T>C c.1186T>C c.956T>C (p.Ile319Thr) n.2047T>C c.760T>C c.593-482T>C c.956T>C c.1214T>C (p.Ile405Thr) n.1002T>C c.810T>C | |
| 2 | g.32136627T>G | CA346502119 | SPAST | c.*970T>G (n.*970T>G) c.1310T>G (p.Ile437Arg) c.1307T>G (p.Ile436Arg) c.1047T>G c.1211T>G (p.Ile404Arg) c.1084T>G c.1052T>G (p.Ile351Arg) c.469T>G c.890T>G c.1186T>G c.956T>G (p.Ile319Arg) n.2047T>G c.760T>G c.593-482T>G c.956T>G c.1214T>G (p.Ile405Arg) n.1002T>G c.810T>G | |
| 2 | g.32136628A>C | CA425448657 | SPAST | c.*971A>C (n.*971A>C) c.1311A>C (p.Ile437=) c.1308A>C (p.Ile436=) c.1048A>C c.1212A>C (p.Ile404=) c.1085A>C c.1053A>C (p.Ile351=) c.470A>C c.891A>C c.1187A>C c.957A>C (p.Ile319=) n.2048A>C c.761A>C c.593-481A>C c.957A>C c.1215A>C (p.Ile405=) n.1003A>C c.811A>C | |
| 2 | g.32136628A>G | CA346502120 | SPAST | c.*971A>G (n.*971A>G) c.1311A>G (p.Ile437Met) c.1308A>G (p.Ile436Met) c.1048A>G c.1212A>G (p.Ile404Met) c.1085A>G c.1053A>G (p.Ile351Met) c.470A>G c.891A>G c.1187A>G c.957A>G (p.Ile319Met) n.2048A>G c.761A>G c.593-481A>G c.957A>G c.1215A>G (p.Ile405Met) n.1003A>G c.811A>G | |
| 2 | g.32136628A>T | CA425448660 | SPAST | c.*971A>T (n.*971A>T) c.1311A>T (p.Ile437=) c.1308A>T (p.Ile436=) c.1048A>T c.1212A>T (p.Ile404=) c.1085A>T c.1053A>T (p.Ile351=) c.470A>T c.891A>T c.1187A>T c.957A>T (p.Ile319=) n.2048A>T c.761A>T c.593-481A>T c.957A>T c.1215A>T (p.Ile405=) n.1003A>T c.811A>T | |
| 2 | g.32136629del | CA2586964751 | SPAST | c.*972del (n.*972del) c.1312del (p.Ile438PhefsTer3) c.1309del (p.Ile437PhefsTer3) c.1049del c.1213del (p.Ile405PhefsTer3) c.1086del c.1054del (p.Ile352PhefsTer3) c.471del c.892del c.1188del c.958del (p.Ile320PhefsTer3) n.2049del c.762del c.593-480del c.958del c.1216del (p.Ile406PhefsTer3) n.1004del c.812del | |
| 2 | g.32136629A= | CA1242501260 | SPAST | c.*972A= (n.*972A=) c.1312A= (p.Ile438=) c.1309A= (p.Ile437=) c.1049A= c.1213A= (p.Ile405=) c.1086A= c.1054A= (p.Ile352=) c.471A= c.892A= c.1188A= c.958A= (p.Ile320=) n.2049A= c.762A= c.593-480A= c.958A= c.1216A= (p.Ile406=) n.1004A= c.812A= | |
| 2 | g.32136629A>C | CA346502122 | SPAST | c.*972A>C (n.*972A>C) c.1312A>C (p.Ile438Leu) c.1309A>C (p.Ile437Leu) c.1049A>C c.1213A>C (p.Ile405Leu) c.1086A>C c.1054A>C (p.Ile352Leu) c.471A>C c.892A>C c.1188A>C c.958A>C (p.Ile320Leu) n.2049A>C c.762A>C c.593-480A>C c.958A>C c.1216A>C (p.Ile406Leu) n.1004A>C c.812A>C | |
| 2 | g.32136629A>G | CA44749668 | SPAST | c.*972A>G (n.*972A>G) c.1312A>G (p.Ile438Val) c.1309A>G (p.Ile437Val) c.1049A>G c.1213A>G (p.Ile405Val) c.1086A>G c.1054A>G (p.Ile352Val) c.471A>G c.892A>G c.1188A>G c.958A>G (p.Ile320Val) n.2049A>G c.762A>G c.593-480A>G c.958A>G c.1216A>G (p.Ile406Val) n.1004A>G c.812A>G | dbSNP gnomAD v4 |
| 2 | g.32136629A>T | CA346502121 | SPAST | c.*972A>T (n.*972A>T) c.1312A>T (p.Ile438Phe) c.1309A>T (p.Ile437Phe) c.1049A>T c.1213A>T (p.Ile405Phe) c.1086A>T c.1054A>T (p.Ile352Phe) c.471A>T c.892A>T c.1188A>T c.958A>T (p.Ile320Phe) n.2049A>T c.762A>T c.593-480A>T c.958A>T c.1216A>T (p.Ile406Phe) n.1004A>T c.812A>T | |
| 2 | g.32136630T>A | CA346502123 | SPAST | c.*973T>A (n.*973T>A) c.1313T>A (p.Ile438Asn) c.1310T>A (p.Ile437Asn) c.1050T>A c.1214T>A (p.Ile405Asn) c.1087T>A c.1055T>A (p.Ile352Asn) c.472T>A c.893T>A c.1189T>A c.959T>A (p.Ile320Asn) n.2050T>A c.763T>A c.593-479T>A c.959T>A c.1217T>A (p.Ile406Asn) n.1005T>A c.813T>A | |
| 2 | g.32136630T>C | CA346502124 | SPAST | c.*973T>C (n.*973T>C) c.1313T>C (p.Ile438Thr) c.1310T>C (p.Ile437Thr) c.1050T>C c.1214T>C (p.Ile405Thr) c.1087T>C c.1055T>C (p.Ile352Thr) c.472T>C c.893T>C c.1189T>C c.959T>C (p.Ile320Thr) n.2050T>C c.763T>C c.593-479T>C c.959T>C c.1217T>C (p.Ile406Thr) n.1005T>C c.813T>C | ClinVar dbSNP |
| 2 | g.32136630T>G | CA346502125 | SPAST | c.*973T>G (n.*973T>G) c.1313T>G (p.Ile438Ser) c.1310T>G (p.Ile437Ser) c.1050T>G c.1214T>G (p.Ile405Ser) c.1087T>G c.1055T>G (p.Ile352Ser) c.472T>G c.893T>G c.1189T>G c.959T>G (p.Ile320Ser) n.2050T>G c.763T>G c.593-479T>G c.959T>G c.1217T>G (p.Ile406Ser) n.1005T>G c.813T>G | |
| 2 | g.32136634del | CA2586964752 | SPAST | c.*977del (n.*977del) c.1317del (p.Phe439LeufsTer2) c.1314del (p.Phe438LeufsTer2) c.1054del c.1218del (p.Phe406LeufsTer2) c.1091del c.1059del (p.Phe353LeufsTer2) c.476del c.897del c.1193del c.963del (p.Phe321LeufsTer2) n.2054del c.767del c.593-475del c.963del c.1221del (p.Phe407LeufsTer2) n.1009del c.817del | |
| 2 | g.32136631T>A | CA425448679 | SPAST | c.*974T>A (n.*974T>A) c.1314T>A (p.Ile438=) c.1311T>A (p.Ile437=) c.1051T>A c.1215T>A (p.Ile405=) c.1088T>A c.1056T>A (p.Ile352=) c.473T>A c.894T>A c.1190T>A c.960T>A (p.Ile320=) n.2051T>A c.764T>A c.593-478T>A c.960T>A c.1218T>A (p.Ile406=) n.1006T>A c.814T>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32136631T>C | CA425448681 | SPAST | c.*974T>C (n.*974T>C) c.1314T>C (p.Ile438=) c.1311T>C (p.Ile437=) c.1051T>C c.1215T>C (p.Ile405=) c.1088T>C c.1056T>C (p.Ile352=) c.473T>C c.894T>C c.1190T>C c.960T>C (p.Ile320=) n.2051T>C c.764T>C c.593-478T>C c.960T>C c.1218T>C (p.Ile406=) n.1006T>C c.814T>C | |
| 2 | g.32136631T>G | CA346502126 | SPAST | c.*974T>G (n.*974T>G) c.1314T>G (p.Ile438Met) c.1311T>G (p.Ile437Met) c.1051T>G c.1215T>G (p.Ile405Met) c.1088T>G c.1056T>G (p.Ile352Met) c.473T>G c.894T>G c.1190T>G c.960T>G (p.Ile320Met) n.2051T>G c.764T>G c.593-478T>G c.960T>G c.1218T>G (p.Ile406Met) n.1006T>G c.814T>G | |
| 2 | g.32136631T= | CA1242501264 | SPAST | c.*974T= (n.*974T=) c.1314T= (p.Ile438=) c.1311T= (p.Ile437=) c.1051T= c.1215T= (p.Ile405=) c.1088T= c.1056T= (p.Ile352=) c.473T= c.894T= c.1190T= c.960T= (p.Ile320=) n.2051T= c.764T= c.593-478T= c.960T= c.1218T= (p.Ile406=) n.1006T= c.814T= | |
| 2 | g.32136632T>A | CA346502127 | SPAST | c.*975T>A (n.*975T>A) c.1315T>A (p.Phe439Ile) c.1312T>A (p.Phe438Ile) c.1052T>A c.1216T>A (p.Phe406Ile) c.1089T>A c.1057T>A (p.Phe353Ile) c.474T>A c.895T>A c.1191T>A c.961T>A (p.Phe321Ile) n.2052T>A c.765T>A c.593-477T>A c.961T>A c.1219T>A (p.Phe407Ile) n.1007T>A c.815T>A |