| 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.32136608del | CA2580066405 | SPAST | c.*951del (n.*951del) c.1291del (p.Arg431GlufsTer7) c.1288del (p.Arg430GlufsTer7) c.1028del c.1192del (p.Arg398GlufsTer7) c.1065del c.1033del (p.Arg345GlufsTer7) c.450del c.871del c.1167del c.937del (p.Arg313GlufsTer7) n.2028del c.741del c.593-501del c.937del c.1195del (p.Arg399GlufsTer7) n.983del c.791del | ClinVar |
| 2 | g.32136608C>A | CA425448524 | SPAST | c.*951C>A (n.*951C>A) c.1291C>A (p.Arg431=) c.1288C>A (p.Arg430=) c.1028C>A c.1192C>A (p.Arg398=) c.1065C>A c.1033C>A (p.Arg345=) c.450C>A c.871C>A c.1167C>A c.937C>A (p.Arg313=) n.2028C>A c.741C>A c.593-501C>A c.937C>A c.1195C>A (p.Arg399=) n.983C>A c.791C>A | |
| 2 | g.32136608C= | CA1242501213 | SPAST | c.*951C= (n.*951C=) c.1291C= (p.Arg431=) c.1288C= (p.Arg430=) c.1028C= c.1192C= (p.Arg398=) c.1065C= c.1033C= (p.Arg345=) c.450C= c.871C= c.1167C= c.937C= (p.Arg313=) n.2028C= c.741C= c.593-501C= c.937C= c.1195C= (p.Arg399=) n.983C= c.791C= | |
| 2 | g.32136608C>G | CA346502078 | SPAST | c.*951C>G (n.*951C>G) c.1291C>G (p.Arg431Gly) c.1288C>G (p.Arg430Gly) c.1028C>G c.1192C>G (p.Arg398Gly) c.1065C>G c.1033C>G (p.Arg345Gly) c.450C>G c.871C>G c.1167C>G c.937C>G (p.Arg313Gly) n.2028C>G c.741C>G c.593-501C>G c.937C>G c.1195C>G (p.Arg399Gly) n.983C>G c.791C>G | |
| 2 | g.32136608C>T | CA334245 | SPAST | c.*951C>T (n.*951C>T) c.1291C>T (p.Arg431Ter) c.1288C>T (p.Arg430Ter) c.1028C>T c.1192C>T (p.Arg398Ter) c.1065C>T c.1033C>T (p.Arg345Ter) c.450C>T c.871C>T c.1167C>T c.937C>T (p.Arg313Ter) n.2028C>T c.741C>T c.593-501C>T c.937C>T c.1195C>T (p.Arg399Ter) n.983C>T c.791C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.32136608_32136609insCC | CA916504724 | SPAST | c.*951_*952insCC (n.*951_*952insCC) c.1291_1292insCC (p.Arg431ProfsTer8) c.1288_1289insCC (p.Arg430ProfsTer8) c.1028_1029insCC c.1192_1193insCC (p.Arg398ProfsTer8) c.1065_1066insCC c.1033_1034insCC (p.Arg345ProfsTer8) c.450_451insCC c.871_872insCC c.1167_1168insCC c.937_938insCC (p.Arg313ProfsTer8) n.2028_2029insCC c.741_742insCC c.593-501_593-500insCC c.937_938insCC c.1195_1196insCC (p.Arg399ProfsTer8) n.983_984insCC c.791_792insCC | dbSNP |
| 2 | g.32136609G>A | CA346502079 | SPAST | c.*952G>A (n.*952G>A) c.1292G>A (p.Arg431Gln) c.1289G>A (p.Arg430Gln) c.1029G>A c.1193G>A (p.Arg398Gln) c.1066G>A c.1034G>A (p.Arg345Gln) c.451G>A c.872G>A c.1168G>A c.938G>A (p.Arg313Gln) n.2029G>A c.742G>A c.593-500G>A c.938G>A c.1196G>A (p.Arg399Gln) n.984G>A c.792G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32136609G>C | CA1600859 | SPAST | c.*952G>C (n.*952G>C) c.1292G>C (p.Arg431Pro) c.1289G>C (p.Arg430Pro) c.1029G>C c.1193G>C (p.Arg398Pro) c.1066G>C c.1034G>C (p.Arg345Pro) c.451G>C c.872G>C c.1168G>C c.938G>C (p.Arg313Pro) n.2029G>C c.742G>C c.593-500G>C c.938G>C c.1196G>C (p.Arg399Pro) n.984G>C c.792G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32136609G= | CA1242501224 | SPAST | c.*952G= (n.*952G=) c.1292G= (p.Arg431=) c.1289G= (p.Arg430=) c.1029G= c.1193G= (p.Arg398=) c.1066G= c.1034G= (p.Arg345=) c.451G= c.872G= c.1168G= c.938G= (p.Arg313=) n.2029G= c.742G= c.593-500G= c.938G= c.1196G= (p.Arg399=) n.984G= c.792G= | |
| 2 | g.32136609G>T | CA346502080 | SPAST | c.*952G>T (n.*952G>T) c.1292G>T (p.Arg431Leu) c.1289G>T (p.Arg430Leu) c.1029G>T c.1193G>T (p.Arg398Leu) c.1066G>T c.1034G>T (p.Arg345Leu) c.451G>T c.872G>T c.1168G>T c.938G>T (p.Arg313Leu) n.2029G>T c.742G>T c.593-500G>T c.938G>T c.1196G>T (p.Arg399Leu) n.984G>T c.792G>T | |
| 2 | g.32136609_32136611del | CA2586964747 | SPAST | c.*952_*954del (n.*952_*954del) c.1292_1294del (p.Arg431_Glu432delinsGln) c.1289_1291del (p.Arg430_Glu431delinsGln) c.1029_1031del c.1193_1195del (p.Arg398_Glu399delinsGln) c.1066_1068del c.1034_1036del (p.Arg345_Glu346delinsGln) c.451_453del c.872_874del c.1168_1170del c.938_940del (p.Arg313_Glu314delinsGln) n.2029_2031del c.742_744del c.593-500_593-498del c.938_940del c.1196_1198del (p.Arg399_Glu400delinsGln) n.984_986del c.792_794del | |
| 2 | g.32136610A= | CA1242501228 | SPAST | c.*953A= (n.*953A=) c.1293A= (p.Arg431=) c.1290A= (p.Arg430=) c.1030A= c.1194A= (p.Arg398=) c.1067A= c.1035A= (p.Arg345=) c.452A= c.873A= c.1169A= c.939A= (p.Arg313=) n.2030A= c.743A= c.593-499A= c.939A= c.1197A= (p.Arg399=) n.985A= c.793A= | |
| 2 | g.32136610A>C | CA1600860 | SPAST | c.*953A>C (n.*953A>C) c.1293A>C (p.Arg431=) c.1290A>C (p.Arg430=) c.1030A>C c.1194A>C (p.Arg398=) c.1067A>C c.1035A>C (p.Arg345=) c.452A>C c.873A>C c.1169A>C c.939A>C (p.Arg313=) n.2030A>C c.743A>C c.593-499A>C c.939A>C c.1197A>C (p.Arg399=) n.985A>C c.793A>C | dbSNP ExAC gnomAD v2 |
| 2 | g.32136610A>G | CA425448539 | SPAST | c.*953A>G (n.*953A>G) c.1293A>G (p.Arg431=) c.1290A>G (p.Arg430=) c.1030A>G c.1194A>G (p.Arg398=) c.1067A>G c.1035A>G (p.Arg345=) c.452A>G c.873A>G c.1169A>G c.939A>G (p.Arg313=) n.2030A>G c.743A>G c.593-499A>G c.939A>G c.1197A>G (p.Arg399=) n.985A>G c.793A>G | |
| 2 | g.32136610A>T | CA425448536 | SPAST | c.*953A>T (n.*953A>T) c.1293A>T (p.Arg431=) c.1290A>T (p.Arg430=) c.1030A>T c.1194A>T (p.Arg398=) c.1067A>T c.1035A>T (p.Arg345=) c.452A>T c.873A>T c.1169A>T c.939A>T (p.Arg313=) n.2030A>T c.743A>T c.593-499A>T c.939A>T c.1197A>T (p.Arg399=) n.985A>T c.793A>T | |
| 2 | g.32136610_32136611insT | CA2586964749 | SPAST | c.*953_*954insT (n.*953_*954insT) c.1293_1294insT (p.Glu432Ter) c.1290_1291insT (p.Glu431Ter) c.1030_1031insT c.1194_1195insT (p.Glu399Ter) c.1067_1068insT c.1035_1036insT (p.Glu346Ter) c.452_453insT c.873_874insT c.1169_1170insT c.939_940insT (p.Glu314Ter) n.2030_2031insT c.743_744insT c.593-499_593-498insT c.939_940insT c.1197_1198insT (p.Glu400Ter) n.985_986insT c.793_794insT | |
| 2 | g.32136611G>A | CA346502081 | SPAST | c.*954G>A (n.*954G>A) c.1294G>A (p.Glu432Lys) c.1291G>A (p.Glu431Lys) c.1031G>A c.1195G>A (p.Glu399Lys) c.1068G>A c.1036G>A (p.Glu346Lys) c.453G>A c.874G>A c.1170G>A c.940G>A (p.Glu314Lys) n.2031G>A c.744G>A c.593-498G>A c.940G>A c.1198G>A (p.Glu400Lys) n.986G>A c.794G>A | |
| 2 | g.32136611G>C | CA346502082 | SPAST | c.*954G>C (n.*954G>C) c.1294G>C (p.Glu432Gln) c.1291G>C (p.Glu431Gln) c.1031G>C c.1195G>C (p.Glu399Gln) c.1068G>C c.1036G>C (p.Glu346Gln) c.453G>C c.874G>C c.1170G>C c.940G>C (p.Glu314Gln) n.2031G>C c.744G>C c.593-498G>C c.940G>C c.1198G>C (p.Glu400Gln) n.986G>C c.794G>C | |
| 2 | g.32136611G>T | CA346502083 | SPAST | c.*954G>T (n.*954G>T) c.1294G>T (p.Glu432Ter) c.1291G>T (p.Glu431Ter) c.1031G>T c.1195G>T (p.Glu399Ter) c.1068G>T c.1036G>T (p.Glu346Ter) c.453G>T c.874G>T c.1170G>T c.940G>T (p.Glu314Ter) n.2031G>T c.744G>T c.593-498G>T c.940G>T c.1198G>T (p.Glu400Ter) n.986G>T c.794G>T | COSMIC |
| 2 | g.32136612A= | CA1242501231 | SPAST | c.*955A= (n.*955A=) c.1295A= (p.Glu432=) c.1292A= (p.Glu431=) c.1032A= c.1196A= (p.Glu399=) c.1069A= c.1037A= (p.Glu346=) c.454A= c.875A= c.1171A= c.941A= (p.Glu314=) n.2032A= c.745A= c.593-497A= c.941A= c.1199A= (p.Glu400=) n.987A= c.795A= | |
| 2 | g.32136612A>C | CA346502084 | SPAST | c.*955A>C (n.*955A>C) c.1295A>C (p.Glu432Ala) c.1292A>C (p.Glu431Ala) c.1032A>C c.1196A>C (p.Glu399Ala) c.1069A>C c.1037A>C (p.Glu346Ala) c.454A>C c.875A>C c.1171A>C c.941A>C (p.Glu314Ala) n.2032A>C c.745A>C c.593-497A>C c.941A>C c.1199A>C (p.Glu400Ala) n.987A>C c.795A>C | |
| 2 | g.32136612A>G | CA346502085 | SPAST | c.*955A>G (n.*955A>G) c.1295A>G (p.Glu432Gly) c.1292A>G (p.Glu431Gly) c.1032A>G c.1196A>G (p.Glu399Gly) c.1069A>G c.1037A>G (p.Glu346Gly) c.454A>G c.875A>G c.1171A>G c.941A>G (p.Glu314Gly) n.2032A>G c.745A>G c.593-497A>G c.941A>G c.1199A>G (p.Glu400Gly) n.987A>G c.795A>G | dbSNP |
| 2 | g.32136612A>T | CA346502086 | SPAST | c.*955A>T (n.*955A>T) c.1295A>T (p.Glu432Val) c.1292A>T (p.Glu431Val) c.1032A>T c.1196A>T (p.Glu399Val) c.1069A>T c.1037A>T (p.Glu346Val) c.454A>T c.875A>T c.1171A>T c.941A>T (p.Glu314Val) n.2032A>T c.745A>T c.593-497A>T c.941A>T c.1199A>T (p.Glu400Val) n.987A>T c.795A>T | |
| 2 | g.32136613A>C | CA346502087 | SPAST | c.*956A>C (n.*956A>C) c.1296A>C (p.Glu432Asp) c.1293A>C (p.Glu431Asp) c.1033A>C c.1197A>C (p.Glu399Asp) c.1070A>C c.1038A>C (p.Glu346Asp) c.455A>C c.876A>C c.1172A>C c.942A>C (p.Glu314Asp) n.2033A>C c.746A>C c.593-496A>C c.942A>C c.1200A>C (p.Glu400Asp) n.988A>C c.796A>C | |
| 2 | g.32136613A>G | CA425448559 | SPAST | c.*956A>G (n.*956A>G) c.1296A>G (p.Glu432=) c.1293A>G (p.Glu431=) c.1033A>G c.1197A>G (p.Glu399=) c.1070A>G c.1038A>G (p.Glu346=) c.455A>G c.876A>G c.1172A>G c.942A>G (p.Glu314=) n.2033A>G c.746A>G c.593-496A>G c.942A>G c.1200A>G (p.Glu400=) n.988A>G c.796A>G | |
| 2 | g.32136613A>T | CA346502088 | SPAST | c.*956A>T (n.*956A>T) c.1296A>T (p.Glu432Asp) c.1293A>T (p.Glu431Asp) c.1033A>T c.1197A>T (p.Glu399Asp) c.1070A>T c.1038A>T (p.Glu346Asp) c.455A>T c.876A>T c.1172A>T c.942A>T (p.Glu314Asp) n.2033A>T c.746A>T c.593-496A>T c.942A>T c.1200A>T (p.Glu400Asp) n.988A>T c.796A>T | |
| 2 | g.32136614C>A | CA346502090 | SPAST | c.*957C>A (n.*957C>A) c.1297C>A (p.Leu433Ile) c.1294C>A (p.Leu432Ile) c.1034C>A c.1198C>A (p.Leu400Ile) c.1071C>A c.1039C>A (p.Leu347Ile) c.456C>A c.877C>A c.1173C>A c.943C>A (p.Leu315Ile) n.2034C>A c.747C>A c.593-495C>A c.943C>A c.1201C>A (p.Leu401Ile) n.989C>A c.797C>A | |
| 2 | g.32136614C>G | CA346502091 | SPAST | c.*957C>G (n.*957C>G) c.1297C>G (p.Leu433Val) c.1294C>G (p.Leu432Val) c.1034C>G c.1198C>G (p.Leu400Val) c.1071C>G c.1039C>G (p.Leu347Val) c.456C>G c.877C>G c.1173C>G c.943C>G (p.Leu315Val) n.2034C>G c.747C>G c.593-495C>G c.943C>G c.1201C>G (p.Leu401Val) n.989C>G c.797C>G | |
| 2 | g.32136614C>T | CA346502089 | SPAST | c.*957C>T (n.*957C>T) c.1297C>T (p.Leu433Phe) c.1294C>T (p.Leu432Phe) c.1034C>T c.1198C>T (p.Leu400Phe) c.1071C>T c.1039C>T (p.Leu347Phe) c.456C>T c.877C>T c.1173C>T c.943C>T (p.Leu315Phe) n.2034C>T c.747C>T c.593-495C>T c.943C>T c.1201C>T (p.Leu401Phe) n.989C>T c.797C>T | |
| 2 | g.32136614_32136615delinsCT | CA1242501235 | SPAST | c.*957_*958delinsCT (n.*957_*958delinsCT) c.1297_1298delinsCT (p.Leu433=) c.1294_1295delinsCT (p.Leu432=) c.1034_1035delinsCT c.1198_1199delinsCT (p.Leu400=) c.1071_1072delinsCT c.1039_1040delinsCT (p.Leu347=) c.456_457delinsCT c.877_878delinsCT c.1173_1174delinsCT c.943_944delinsCT (p.Leu315=) n.2034_2035delinsCT c.747_748delinsCT c.593-495_593-494delinsCT c.943_944delinsCT c.1201_1202delinsCT (p.Leu401=) n.989_990delinsCT c.797_798delinsCT | |
| 2 | g.32136615T>A | CA346502092 | SPAST | c.*958T>A (n.*958T>A) c.1298T>A (p.Leu433His) c.1295T>A (p.Leu432His) c.1035T>A c.1199T>A (p.Leu400His) c.1072T>A c.1040T>A (p.Leu347His) c.457T>A c.878T>A c.1174T>A c.944T>A (p.Leu315His) n.2035T>A c.748T>A c.593-494T>A c.944T>A c.1202T>A (p.Leu401His) n.990T>A c.798T>A | |
| 2 | g.32136615T>C | CA346502094 | SPAST | c.*958T>C (n.*958T>C) c.1298T>C (p.Leu433Pro) c.1295T>C (p.Leu432Pro) c.1035T>C c.1199T>C (p.Leu400Pro) c.1072T>C c.1040T>C (p.Leu347Pro) c.457T>C c.878T>C c.1174T>C c.944T>C (p.Leu315Pro) n.2035T>C c.748T>C c.593-494T>C c.944T>C c.1202T>C (p.Leu401Pro) n.990T>C c.798T>C | |
| 2 | g.32136615T>G | CA346502093 | SPAST | c.*958T>G (n.*958T>G) c.1298T>G (p.Leu433Arg) c.1295T>G (p.Leu432Arg) c.1035T>G c.1199T>G (p.Leu400Arg) c.1072T>G c.1040T>G (p.Leu347Arg) c.457T>G c.878T>G c.1174T>G c.944T>G (p.Leu315Arg) n.2035T>G c.748T>G c.593-494T>G c.944T>G c.1202T>G (p.Leu401Arg) n.990T>G c.798T>G | |
| 2 | g.32136616del | CA916504726 | SPAST | c.*959del (n.*959del) c.1299del (p.Gln434AsnfsTer4) c.1296del (p.Gln433AsnfsTer4) c.1036del c.1200del (p.Gln401AsnfsTer4) c.1073del c.1041del (p.Gln348AsnfsTer4) c.458del c.879del c.1175del c.945del (p.Gln316AsnfsTer4) n.2036del c.749del c.593-493del c.945del c.1203del (p.Gln402AsnfsTer4) n.991del c.799del | dbSNP |
| 2 | g.32136616T>A | CA425448581 | SPAST | c.*959T>A (n.*959T>A) c.1299T>A (p.Leu433=) c.1296T>A (p.Leu432=) c.1036T>A c.1200T>A (p.Leu400=) c.1073T>A c.1041T>A (p.Leu347=) c.458T>A c.879T>A c.1175T>A c.945T>A (p.Leu315=) n.2036T>A c.749T>A c.593-493T>A c.945T>A c.1203T>A (p.Leu401=) n.991T>A c.799T>A | |
| 2 | g.32136616T>C | CA425448578 | SPAST | c.*959T>C (n.*959T>C) c.1299T>C (p.Leu433=) c.1296T>C (p.Leu432=) c.1036T>C c.1200T>C (p.Leu400=) c.1073T>C c.1041T>C (p.Leu347=) c.458T>C c.879T>C c.1175T>C c.945T>C (p.Leu315=) n.2036T>C c.749T>C c.593-493T>C c.945T>C c.1203T>C (p.Leu401=) n.991T>C c.799T>C | |
| 2 | g.32136616T>G | CA425448579 | SPAST | c.*959T>G (n.*959T>G) c.1299T>G (p.Leu433=) c.1296T>G (p.Leu432=) c.1036T>G c.1200T>G (p.Leu400=) c.1073T>G c.1041T>G (p.Leu347=) c.458T>G c.879T>G c.1175T>G c.945T>G (p.Leu315=) n.2036T>G c.749T>G c.593-493T>G c.945T>G c.1203T>G (p.Leu401=) n.991T>G c.799T>G | |
| 2 | g.32136617C>A | CA346502095 | SPAST | c.*960C>A (n.*960C>A) c.1300C>A (p.Gln434Lys) c.1297C>A (p.Gln433Lys) c.1037C>A c.1201C>A (p.Gln401Lys) c.1074C>A c.1042C>A (p.Gln348Lys) c.459C>A c.880C>A c.1176C>A c.946C>A (p.Gln316Lys) n.2037C>A c.750C>A c.593-492C>A c.946C>A c.1204C>A (p.Gln402Lys) n.992C>A c.800C>A | |
| 2 | g.32136617C>G | CA346502096 | SPAST | c.*960C>G (n.*960C>G) c.1300C>G (p.Gln434Glu) c.1297C>G (p.Gln433Glu) c.1037C>G c.1201C>G (p.Gln401Glu) c.1074C>G c.1042C>G (p.Gln348Glu) c.459C>G c.880C>G c.1176C>G c.946C>G (p.Gln316Glu) n.2037C>G c.750C>G c.593-492C>G c.946C>G c.1204C>G (p.Gln402Glu) n.992C>G c.800C>G | |
| 2 | g.32136617C>T | CA346502097 | SPAST | c.*960C>T (n.*960C>T) c.1300C>T (p.Gln434Ter) c.1297C>T (p.Gln433Ter) c.1037C>T c.1201C>T (p.Gln401Ter) c.1074C>T c.1042C>T (p.Gln348Ter) c.459C>T c.880C>T c.1176C>T c.946C>T (p.Gln316Ter) n.2037C>T c.750C>T c.593-492C>T c.946C>T c.1204C>T (p.Gln402Ter) n.992C>T c.800C>T | ClinVar |
| 2 | g.32136618A>C | CA346502098 | SPAST | c.*961A>C (n.*961A>C) c.1301A>C (p.Gln434Pro) c.1298A>C (p.Gln433Pro) c.1038A>C c.1202A>C (p.Gln401Pro) c.1075A>C c.1043A>C (p.Gln348Pro) c.460A>C c.881A>C c.1177A>C c.947A>C (p.Gln316Pro) n.2038A>C c.751A>C c.593-491A>C c.947A>C c.1205A>C (p.Gln402Pro) n.993A>C c.801A>C | |
| 2 | g.32136618A>G | CA346502099 | SPAST | c.*961A>G (n.*961A>G) c.1301A>G (p.Gln434Arg) c.1298A>G (p.Gln433Arg) c.1038A>G c.1202A>G (p.Gln401Arg) c.1075A>G c.1043A>G (p.Gln348Arg) c.460A>G c.881A>G c.1177A>G c.947A>G (p.Gln316Arg) n.2038A>G c.751A>G c.593-491A>G c.947A>G c.1205A>G (p.Gln402Arg) n.993A>G c.801A>G | gnomAD v4 |
| 2 | g.32136618A>T | CA346502100 | SPAST | c.*961A>T (n.*961A>T) c.1301A>T (p.Gln434Leu) c.1298A>T (p.Gln433Leu) c.1038A>T c.1202A>T (p.Gln401Leu) c.1075A>T c.1043A>T (p.Gln348Leu) c.460A>T c.881A>T c.1177A>T c.947A>T (p.Gln316Leu) n.2038A>T c.751A>T c.593-491A>T c.947A>T c.1205A>T (p.Gln402Leu) n.993A>T c.801A>T | |
| 2 | g.32136619A>C | CA346502101 | SPAST | c.*962A>C (n.*962A>C) c.1302A>C (p.Gln434His) c.1299A>C (p.Gln433His) c.1039A>C c.1203A>C (p.Gln401His) c.1076A>C c.1044A>C (p.Gln348His) c.461A>C c.882A>C c.1178A>C c.948A>C (p.Gln316His) n.2039A>C c.752A>C c.593-490A>C c.948A>C c.1206A>C (p.Gln402His) n.994A>C c.802A>C | |
| 2 | g.32136619A>G | CA425448602 | SPAST | c.*962A>G (n.*962A>G) c.1302A>G (p.Gln434=) c.1299A>G (p.Gln433=) c.1039A>G c.1203A>G (p.Gln401=) c.1076A>G c.1044A>G (p.Gln348=) c.461A>G c.882A>G c.1178A>G c.948A>G (p.Gln316=) n.2039A>G c.752A>G c.593-490A>G c.948A>G c.1206A>G (p.Gln402=) n.994A>G c.802A>G | gnomAD v4 |
| 2 | g.32136619A>T | CA346502102 | SPAST | c.*962A>T (n.*962A>T) c.1302A>T (p.Gln434His) c.1299A>T (p.Gln433His) c.1039A>T c.1203A>T (p.Gln401His) c.1076A>T c.1044A>T (p.Gln348His) c.461A>T c.882A>T c.1178A>T c.948A>T (p.Gln316His) n.2039A>T c.752A>T c.593-490A>T c.948A>T c.1206A>T (p.Gln402His) n.994A>T c.802A>T | |
| 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= |