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.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.32126965_32126966delinsAG | CA1242497401 | SPAST | c.*776_*777delinsAG (n.*776_*777delinsAG) c.1116_1117delinsAG (p.Arg372=) c.1113_1114delinsAG (p.Arg371=) c.983-9598_983-9597delinsAG c.1017_1018delinsAG (p.Arg339=) c.890_891delinsAG c.858_859delinsAG (p.Arg286=) c.275_276delinsAG c.696_697delinsAG c.992_993delinsAG c.762_763delinsAG (p.Arg254=) n.468_469delinsAG n.329_330delinsAG c.566_567delinsAG c.463_464delinsAG c.762_763delinsAG c.1020_1021delinsAG (p.Arg340=) n.808_809delinsAG c.674-1443_674-1442delinsAG | |
| 2 | g.32126966del | CA16043391 | SPAST | c.*777del (n.*777del) c.1117del (p.Ala373LeufsTer23) c.1114del (p.Ala372LeufsTer23) c.983-9597del c.1018del (p.Ala340LeufsTer23) c.891del c.859del (p.Ala287LeufsTer23) c.276del c.697del c.993del c.763del (p.Ala255LeufsTer23) n.469del n.330del c.567del c.464del c.763del c.1021del (p.Ala341LeufsTer23) n.809del c.674-1442del | ClinVar dbSNP |
| 2 | g.32126966G>A | CA346501228 | SPAST | c.*777G>A (n.*777G>A) c.1117G>A (p.Ala373Thr) c.1114G>A (p.Ala372Thr) c.983-9597G>A c.1018G>A (p.Ala340Thr) c.891G>A c.859G>A (p.Ala287Thr) c.276G>A c.697G>A c.993G>A c.763G>A (p.Ala255Thr) n.469G>A n.330G>A c.567G>A c.464G>A c.763G>A c.1021G>A (p.Ala341Thr) n.809G>A c.674-1442G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.32126966G>C | CA346501229 | SPAST | c.*777G>C (n.*777G>C) c.1117G>C (p.Ala373Pro) c.1114G>C (p.Ala372Pro) c.983-9597G>C c.1018G>C (p.Ala340Pro) c.891G>C c.859G>C (p.Ala287Pro) c.276G>C c.697G>C c.993G>C c.763G>C (p.Ala255Pro) n.469G>C n.330G>C c.567G>C c.464G>C c.763G>C c.1021G>C (p.Ala341Pro) n.809G>C c.674-1442G>C | ClinVar dbSNP |
| 2 | g.32126966G= | CA1242497403 | SPAST | c.*777G= (n.*777G=) c.1117G= (p.Ala373=) c.1114G= (p.Ala372=) c.983-9597G= c.1018G= (p.Ala340=) c.891G= c.859G= (p.Ala287=) c.276G= c.697G= c.993G= c.763G= (p.Ala255=) n.469G= n.330G= c.567G= c.464G= c.763G= c.1021G= (p.Ala341=) n.809G= c.674-1442G= | |
| 2 | g.32126966G>T | CA346501230 | SPAST | c.*777G>T (n.*777G>T) c.1117G>T (p.Ala373Ser) c.1114G>T (p.Ala372Ser) c.983-9597G>T c.1018G>T (p.Ala340Ser) c.891G>T c.859G>T (p.Ala287Ser) c.276G>T c.697G>T c.993G>T c.763G>T (p.Ala255Ser) n.469G>T n.330G>T c.567G>T c.464G>T c.763G>T c.1021G>T (p.Ala341Ser) n.809G>T c.674-1442G>T | |
| 2 | g.32126967del | CA2499215903 | SPAST | c.*778del (n.*778del) c.1118del (p.Ala373ValfsTer23) c.1115del (p.Ala372ValfsTer23) c.983-9596del c.1019del (p.Ala340ValfsTer23) c.892del c.860del (p.Ala287ValfsTer23) c.277del c.698del c.994del c.764del (p.Ala255ValfsTer23) n.470del n.331del c.568del c.465del c.764del c.1022del (p.Ala341ValfsTer23) n.810del c.674-1441del | ClinVar dbSNP |
| 2 | g.32126967C>A | CA346501231 | SPAST | c.*778C>A (n.*778C>A) c.1118C>A (p.Ala373Asp) c.1115C>A (p.Ala372Asp) c.983-9596C>A c.1019C>A (p.Ala340Asp) c.892C>A c.860C>A (p.Ala287Asp) c.277C>A c.698C>A c.994C>A c.764C>A (p.Ala255Asp) n.470C>A n.331C>A c.568C>A c.465C>A c.764C>A c.1022C>A (p.Ala341Asp) n.810C>A c.674-1441C>A | |
| 2 | g.32126967C>G | CA346501232 | SPAST | c.*778C>G (n.*778C>G) c.1118C>G (p.Ala373Gly) c.1115C>G (p.Ala372Gly) c.983-9596C>G c.1019C>G (p.Ala340Gly) c.892C>G c.860C>G (p.Ala287Gly) c.277C>G c.698C>G c.994C>G c.764C>G (p.Ala255Gly) n.470C>G n.331C>G c.568C>G c.465C>G c.764C>G c.1022C>G (p.Ala341Gly) n.810C>G c.674-1441C>G | |
| 2 | g.32126967C>T | CA346501233 | SPAST | c.*778C>T (n.*778C>T) c.1118C>T (p.Ala373Val) c.1115C>T (p.Ala372Val) c.983-9596C>T c.1019C>T (p.Ala340Val) c.892C>T c.860C>T (p.Ala287Val) c.277C>T c.698C>T c.994C>T c.764C>T (p.Ala255Val) n.470C>T n.331C>T c.568C>T c.465C>T c.764C>T c.1022C>T (p.Ala341Val) n.810C>T c.674-1441C>T | |
| 2 | g.32126968T>A | CA425446565 | SPAST | c.*779T>A (n.*779T>A) c.1119T>A (p.Ala373=) c.1116T>A (p.Ala372=) c.983-9595T>A c.1020T>A (p.Ala340=) c.893T>A c.861T>A (p.Ala287=) c.278T>A c.699T>A c.995T>A c.765T>A (p.Ala255=) n.471T>A n.332T>A c.569T>A c.466T>A c.765T>A c.1023T>A (p.Ala341=) n.811T>A c.674-1440T>A | |
| 2 | g.32126968T>C | CA425446566 | SPAST | c.*779T>C (n.*779T>C) c.1119T>C (p.Ala373=) c.1116T>C (p.Ala372=) c.983-9595T>C c.1020T>C (p.Ala340=) c.893T>C c.861T>C (p.Ala287=) c.278T>C c.699T>C c.995T>C c.765T>C (p.Ala255=) n.471T>C n.332T>C c.569T>C c.466T>C c.765T>C c.1023T>C (p.Ala341=) n.811T>C c.674-1440T>C | ClinVar |
| 2 | g.32126968T>G | CA425446567 | SPAST | c.*779T>G (n.*779T>G) c.1119T>G (p.Ala373=) c.1116T>G (p.Ala372=) c.983-9595T>G c.1020T>G (p.Ala340=) c.893T>G c.861T>G (p.Ala287=) c.278T>G c.699T>G c.995T>G c.765T>G (p.Ala255=) n.471T>G n.332T>G c.569T>G c.466T>G c.765T>G c.1023T>G (p.Ala341=) n.811T>G c.674-1440T>G | |
| 2 | g.32126969C>A | CA346501234 | SPAST | c.*780C>A (n.*780C>A) c.1120C>A (p.Pro374Thr) c.1117C>A (p.Pro373Thr) c.983-9594C>A c.1021C>A (p.Pro341Thr) c.894C>A c.862C>A (p.Pro288Thr) c.279C>A c.700C>A c.996C>A c.766C>A (p.Pro256Thr) n.472C>A n.333C>A c.570C>A c.467C>A c.766C>A c.1024C>A (p.Pro342Thr) n.812C>A c.674-1439C>A | dbSNP gnomAD v4 |
| 2 | g.32126969C= | CA1242497404 | SPAST | c.*780C= (n.*780C=) c.1120C= (p.Pro374=) c.1117C= (p.Pro373=) c.983-9594C= c.1021C= (p.Pro341=) c.894C= c.862C= (p.Pro288=) c.279C= c.700C= c.996C= c.766C= (p.Pro256=) n.472C= n.333C= c.570C= c.467C= c.766C= c.1024C= (p.Pro342=) n.812C= c.674-1439C= | |
| 2 | g.32126969C>G | CA346501235 | SPAST | c.*780C>G (n.*780C>G) c.1120C>G (p.Pro374Ala) c.1117C>G (p.Pro373Ala) c.983-9594C>G c.1021C>G (p.Pro341Ala) c.894C>G c.862C>G (p.Pro288Ala) c.279C>G c.700C>G c.996C>G c.766C>G (p.Pro256Ala) n.472C>G n.333C>G c.570C>G c.467C>G c.766C>G c.1024C>G (p.Pro342Ala) n.812C>G c.674-1439C>G | |
| 2 | g.32126969C>T | CA346501236 | SPAST | c.*780C>T (n.*780C>T) c.1120C>T (p.Pro374Ser) c.1117C>T (p.Pro373Ser) c.983-9594C>T c.1021C>T (p.Pro341Ser) c.894C>T c.862C>T (p.Pro288Ser) c.279C>T c.700C>T c.996C>T c.766C>T (p.Pro256Ser) n.472C>T n.333C>T c.570C>T c.467C>T c.766C>T c.1024C>T (p.Pro342Ser) n.812C>T c.674-1439C>T | ClinVar dbSNP |
| 2 | g.32126970C>A | CA346501239 | SPAST | c.*781C>A (n.*781C>A) c.1121C>A (p.Pro374His) c.1118C>A (p.Pro373His) c.983-9593C>A c.1022C>A (p.Pro341His) c.895C>A c.863C>A (p.Pro288His) c.280C>A c.701C>A c.997C>A c.767C>A (p.Pro256His) n.473C>A n.334C>A c.571C>A c.468C>A c.767C>A c.1025C>A (p.Pro342His) n.813C>A c.674-1438C>A | |
| 2 | g.32126970C= | CA1242497405 | SPAST | c.*781C= (n.*781C=) c.1121C= (p.Pro374=) c.1118C= (p.Pro373=) c.983-9593C= c.1022C= (p.Pro341=) c.895C= c.863C= (p.Pro288=) c.280C= c.701C= c.997C= c.767C= (p.Pro256=) n.473C= n.334C= c.571C= c.468C= c.767C= c.1025C= (p.Pro342=) n.813C= c.674-1438C= | |
| 2 | g.32126970C>G | CA346501237 | SPAST | c.*781C>G (n.*781C>G) c.1121C>G (p.Pro374Arg) c.1118C>G (p.Pro373Arg) c.983-9593C>G c.1022C>G (p.Pro341Arg) c.895C>G c.863C>G (p.Pro288Arg) c.280C>G c.701C>G c.997C>G c.767C>G (p.Pro256Arg) n.473C>G n.334C>G c.571C>G c.468C>G c.767C>G c.1025C>G (p.Pro342Arg) n.813C>G c.674-1438C>G | dbSNP |
| 2 | g.32126970C>T | CA346501238 | SPAST | c.*781C>T (n.*781C>T) c.1121C>T (p.Pro374Leu) c.1118C>T (p.Pro373Leu) c.983-9593C>T c.1022C>T (p.Pro341Leu) c.895C>T c.863C>T (p.Pro288Leu) c.280C>T c.701C>T c.997C>T c.767C>T (p.Pro256Leu) n.473C>T n.334C>T c.571C>T c.468C>T c.767C>T c.1025C>T (p.Pro342Leu) n.813C>T c.674-1438C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.32126971T>A | CA425446569 | SPAST | c.*782T>A (n.*782T>A) c.1122T>A (p.Pro374=) c.1119T>A (p.Pro373=) c.983-9592T>A c.1023T>A (p.Pro341=) c.896T>A c.864T>A (p.Pro288=) c.281T>A c.702T>A c.998T>A c.768T>A (p.Pro256=) n.474T>A n.335T>A c.572T>A c.469T>A c.768T>A c.1026T>A (p.Pro342=) n.814T>A c.674-1437T>A | |
| 2 | g.32126971T>C | CA425446571 | SPAST | c.*782T>C (n.*782T>C) c.1122T>C (p.Pro374=) c.1119T>C (p.Pro373=) c.983-9592T>C c.1023T>C (p.Pro341=) c.896T>C c.864T>C (p.Pro288=) c.281T>C c.702T>C c.998T>C c.768T>C (p.Pro256=) n.474T>C n.335T>C c.572T>C c.469T>C c.768T>C c.1026T>C (p.Pro342=) n.814T>C c.674-1437T>C | |
| 2 | g.32126971T>G | CA425446573 | SPAST | c.*782T>G (n.*782T>G) c.1122T>G (p.Pro374=) c.1119T>G (p.Pro373=) c.983-9592T>G c.1023T>G (p.Pro341=) c.896T>G c.864T>G (p.Pro288=) c.281T>G c.702T>G c.998T>G c.768T>G (p.Pro256=) n.474T>G n.335T>G c.572T>G c.469T>G c.768T>G c.1026T>G (p.Pro342=) n.814T>G c.674-1437T>G | |
| 2 | g.32126972G>A | CA346501240 | SPAST | c.*783G>A (n.*783G>A) c.1123G>A (p.Ala375Thr) c.1120G>A (p.Ala374Thr) c.983-9591G>A c.1024G>A (p.Ala342Thr) c.897G>A c.865G>A (p.Ala289Thr) c.282G>A c.703G>A c.999G>A c.769G>A (p.Ala257Thr) n.475G>A n.336G>A c.573G>A c.470G>A c.769G>A c.1027G>A (p.Ala343Thr) n.815G>A c.674-1436G>A | gnomAD v4 |
| 2 | g.32126972G>C | CA346501241 | SPAST | c.*783G>C (n.*783G>C) c.1123G>C (p.Ala375Pro) c.1120G>C (p.Ala374Pro) c.983-9591G>C c.1024G>C (p.Ala342Pro) c.897G>C c.865G>C (p.Ala289Pro) c.282G>C c.703G>C c.999G>C c.769G>C (p.Ala257Pro) n.475G>C n.336G>C c.573G>C c.470G>C c.769G>C c.1027G>C (p.Ala343Pro) n.815G>C c.674-1436G>C | |
| 2 | g.32126972G>T | CA346501242 | SPAST | c.*783G>T (n.*783G>T) c.1123G>T (p.Ala375Ser) c.1120G>T (p.Ala374Ser) c.983-9591G>T c.1024G>T (p.Ala342Ser) c.897G>T c.865G>T (p.Ala289Ser) c.282G>T c.703G>T c.999G>T c.769G>T (p.Ala257Ser) n.475G>T n.336G>T c.573G>T c.470G>T c.769G>T c.1027G>T (p.Ala343Ser) n.815G>T c.674-1436G>T | |
| 2 | g.32126973C>A | CA346501243 | SPAST | c.*784C>A (n.*784C>A) c.1124C>A (p.Ala375Asp) c.1121C>A (p.Ala374Asp) c.983-9590C>A c.1025C>A (p.Ala342Asp) c.898C>A c.866C>A (p.Ala289Asp) c.283C>A c.704C>A c.1000C>A c.770C>A (p.Ala257Asp) n.476C>A n.337C>A c.574C>A c.471C>A c.770C>A c.1028C>A (p.Ala343Asp) n.816C>A c.674-1435C>A | |
| 2 | g.32126973C>G | CA346501244 | SPAST | c.*784C>G (n.*784C>G) c.1124C>G (p.Ala375Gly) c.1121C>G (p.Ala374Gly) c.983-9590C>G c.1025C>G (p.Ala342Gly) c.898C>G c.866C>G (p.Ala289Gly) c.283C>G c.704C>G c.1000C>G c.770C>G (p.Ala257Gly) n.476C>G n.337C>G c.574C>G c.471C>G c.770C>G c.1028C>G (p.Ala343Gly) n.816C>G c.674-1435C>G | |
| 2 | g.32126973C>T | CA346501245 | SPAST | c.*784C>T (n.*784C>T) c.1124C>T (p.Ala375Val) c.1121C>T (p.Ala374Val) c.983-9590C>T c.1025C>T (p.Ala342Val) c.898C>T c.866C>T (p.Ala289Val) c.283C>T c.704C>T c.1000C>T c.770C>T (p.Ala257Val) n.476C>T n.337C>T c.574C>T c.471C>T c.770C>T c.1028C>T (p.Ala343Val) n.816C>T c.674-1435C>T | |
| 2 | g.32126974C>A | CA44741609 | SPAST | c.*785C>A (n.*785C>A) c.1125C>A (p.Ala375=) c.1122C>A (p.Ala374=) c.983-9589C>A c.1026C>A (p.Ala342=) c.899C>A c.867C>A (p.Ala289=) c.284C>A c.705C>A c.1001C>A c.771C>A (p.Ala257=) n.477C>A n.338C>A c.575C>A c.472C>A c.771C>A c.1029C>A (p.Ala343=) n.817C>A c.674-1434C>A | dbSNP |
| 2 | g.32126974C= | CA1242497406 | SPAST | c.*785C= (n.*785C=) c.1125C= (p.Ala375=) c.1122C= (p.Ala374=) c.983-9589C= c.1026C= (p.Ala342=) c.899C= c.867C= (p.Ala289=) c.284C= c.705C= c.1001C= c.771C= (p.Ala257=) n.477C= n.338C= c.575C= c.472C= c.771C= c.1029C= (p.Ala343=) n.817C= c.674-1434C= | |
| 2 | g.32126974C>G | CA425446575 | SPAST | c.*785C>G (n.*785C>G) c.1125C>G (p.Ala375=) c.1122C>G (p.Ala374=) c.983-9589C>G c.1026C>G (p.Ala342=) c.899C>G c.867C>G (p.Ala289=) c.284C>G c.705C>G c.1001C>G c.771C>G (p.Ala257=) n.477C>G n.338C>G c.575C>G c.472C>G c.771C>G c.1029C>G (p.Ala343=) n.817C>G c.674-1434C>G | |
| 2 | g.32126974C>T | CA425446576 | SPAST | c.*785C>T (n.*785C>T) c.1125C>T (p.Ala375=) c.1122C>T (p.Ala374=) c.983-9589C>T c.1026C>T (p.Ala342=) c.899C>T c.867C>T (p.Ala289=) c.284C>T c.705C>T c.1001C>T c.771C>T (p.Ala257=) n.477C>T n.338C>T c.575C>T c.472C>T c.771C>T c.1029C>T (p.Ala343=) n.817C>T c.674-1434C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32126975A>C | CA425446577 | SPAST | c.*786A>C (n.*786A>C) c.1126A>C (p.Arg376=) c.1123A>C (p.Arg375=) c.983-9588A>C c.1027A>C (p.Arg343=) c.900A>C c.868A>C (p.Arg290=) c.285A>C c.706A>C c.1002A>C c.772A>C (p.Arg258=) n.478A>C n.339A>C c.576A>C c.473A>C c.772A>C c.1030A>C (p.Arg344=) n.818A>C c.674-1433A>C | |
| 2 | g.32126975A>G | CA346501246 | SPAST | c.*786A>G (n.*786A>G) c.1126A>G (p.Arg376Gly) c.1123A>G (p.Arg375Gly) c.983-9588A>G c.1027A>G (p.Arg343Gly) c.900A>G c.868A>G (p.Arg290Gly) c.285A>G c.706A>G c.1002A>G c.772A>G (p.Arg258Gly) n.478A>G n.339A>G c.576A>G c.473A>G c.772A>G c.1030A>G (p.Arg344Gly) n.818A>G c.674-1433A>G | COSMIC |
| 2 | g.32126975A>T | CA346501247 | SPAST | c.*786A>T (n.*786A>T) c.1126A>T (p.Arg376Ter) c.1123A>T (p.Arg375Ter) c.983-9588A>T c.1027A>T (p.Arg343Ter) c.900A>T c.868A>T (p.Arg290Ter) c.285A>T c.706A>T c.1002A>T c.772A>T (p.Arg258Ter) n.478A>T n.339A>T c.576A>T c.473A>T c.772A>T c.1030A>T (p.Arg344Ter) n.818A>T c.674-1433A>T | |
| 2 | g.32126976G>A | CA346501248 | SPAST | c.*787G>A (n.*787G>A) c.1127G>A (p.Arg376Lys) c.1124G>A (p.Arg375Lys) c.983-9587G>A c.1028G>A (p.Arg343Lys) c.901G>A c.869G>A (p.Arg290Lys) c.286G>A c.707G>A c.1003G>A c.773G>A (p.Arg258Lys) n.479G>A n.340G>A c.577G>A c.474G>A c.773G>A c.1031G>A (p.Arg344Lys) n.819G>A c.674-1432G>A | |
| 2 | g.32126976G>C | CA346501249 | SPAST | c.*787G>C (n.*787G>C) c.1127G>C (p.Arg376Thr) c.1124G>C (p.Arg375Thr) c.983-9587G>C c.1028G>C (p.Arg343Thr) c.901G>C c.869G>C (p.Arg290Thr) c.286G>C c.707G>C c.1003G>C c.773G>C (p.Arg258Thr) n.479G>C n.340G>C c.577G>C c.474G>C c.773G>C c.1031G>C (p.Arg344Thr) n.819G>C c.674-1432G>C | |
| 2 | g.32126976G>T | CA346501250 | SPAST | c.*787G>T (n.*787G>T) c.1127G>T (p.Arg376Ile) c.1124G>T (p.Arg375Ile) c.983-9587G>T c.1028G>T (p.Arg343Ile) c.901G>T c.869G>T (p.Arg290Ile) c.286G>T c.707G>T c.1003G>T c.773G>T (p.Arg258Ile) n.479G>T n.340G>T c.577G>T c.474G>T c.773G>T c.1031G>T (p.Arg344Ile) n.819G>T c.674-1432G>T | |
| 2 | g.32126977A>C | CA346501251 | SPAST | c.*788A>C (n.*788A>C) c.1128A>C (p.Arg376Ser) c.1125A>C (p.Arg375Ser) c.983-9586A>C c.1029A>C (p.Arg343Ser) c.902A>C c.870A>C (p.Arg290Ser) c.287A>C c.708A>C c.1004A>C c.774A>C (p.Arg258Ser) n.480A>C n.341A>C c.578A>C c.475A>C c.774A>C c.1032A>C (p.Arg344Ser) n.820A>C c.674-1431A>C | |
| 2 | g.32126977A>G | CA425446581 | SPAST | c.*788A>G (n.*788A>G) c.1128A>G (p.Arg376=) c.1125A>G (p.Arg375=) c.983-9586A>G c.1029A>G (p.Arg343=) c.902A>G c.870A>G (p.Arg290=) c.287A>G c.708A>G c.1004A>G c.774A>G (p.Arg258=) n.480A>G n.341A>G c.578A>G c.475A>G c.774A>G c.1032A>G (p.Arg344=) n.820A>G c.674-1431A>G | |
| 2 | g.32126977A>T | CA346501252 | SPAST | c.*788A>T (n.*788A>T) c.1128A>T (p.Arg376Ser) c.1125A>T (p.Arg375Ser) c.983-9586A>T c.1029A>T (p.Arg343Ser) c.902A>T c.870A>T (p.Arg290Ser) c.287A>T c.708A>T c.1004A>T c.774A>T (p.Arg258Ser) n.480A>T n.341A>T c.578A>T c.475A>T c.774A>T c.1032A>T (p.Arg344Ser) n.820A>T c.674-1431A>T | |
| 2 | g.32126978G>A | CA346501253 | SPAST | c.*789G>A (n.*789G>A) c.1129G>A (p.Gly377Arg) c.1126G>A (p.Gly376Arg) c.983-9585G>A c.1030G>A (p.Gly344Arg) c.903G>A c.871G>A (p.Gly291Arg) c.288G>A c.709G>A c.1005G>A c.775G>A (p.Gly259Arg) n.481G>A n.342G>A c.579G>A c.476G>A c.775G>A c.1033G>A (p.Gly345Arg) n.821G>A c.674-1430G>A | |
| 2 | g.32126978G>C | CA346501254 | SPAST | c.*789G>C (n.*789G>C) c.1129G>C (p.Gly377Arg) c.1126G>C (p.Gly376Arg) c.983-9585G>C c.1030G>C (p.Gly344Arg) c.903G>C c.871G>C (p.Gly291Arg) c.288G>C c.709G>C c.1005G>C c.775G>C (p.Gly259Arg) n.481G>C n.342G>C c.579G>C c.476G>C c.775G>C c.1033G>C (p.Gly345Arg) n.821G>C c.674-1430G>C | ClinVar dbSNP |
| 2 | g.32126978G= | CA1242497407 | SPAST | c.*789G= (n.*789G=) c.1129G= (p.Gly377=) c.1126G= (p.Gly376=) c.983-9585G= c.1030G= (p.Gly344=) c.903G= c.871G= (p.Gly291=) c.288G= c.709G= c.1005G= c.775G= (p.Gly259=) n.481G= n.342G= c.579G= c.476G= c.775G= c.1033G= (p.Gly345=) n.821G= c.674-1430G= | |
| 2 | g.32126978G>T | CA346501255 | SPAST | c.*789G>T (n.*789G>T) c.1129G>T (p.Gly377Trp) c.1126G>T (p.Gly376Trp) c.983-9585G>T c.1030G>T (p.Gly344Trp) c.903G>T c.871G>T (p.Gly291Trp) c.288G>T c.709G>T c.1005G>T c.775G>T (p.Gly259Trp) n.481G>T n.342G>T c.579G>T c.476G>T c.775G>T c.1033G>T (p.Gly345Trp) n.821G>T c.674-1430G>T |