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.32136559_32136561delinsCT | CA2586964736 | SPAST | c.*906-4_*906-2delinsCT (n.*906-4_*906-2delinsCT) c.1246-4_1246-2delinsCT (n.1246-4_1246-2delinsCT) c.1243-4_1243-2delinsCT (n.1243-4_1243-2delinsCT) c.983-4_983-2delinsCT c.1147-4_1147-2delinsCT (n.1147-4_1147-2delinsCT) c.1020-4_1020-2delinsCT c.988-4_988-2delinsCT (n.988-4_988-2delinsCT) c.405-4_405-2delinsCT c.826-4_826-2delinsCT c.1122-4_1122-2delinsCT c.892-4_892-2delinsCT (n.892-4_892-2delinsCT) n.1983-4_1983-2delinsCT c.696-4_696-2delinsCT c.593-550_593-548delinsCT c.892-4_892-2delinsCT c.1150-4_1150-2delinsCT (n.1150-4_1150-2delinsCT) n.938-4_938-2delinsCT c.746-4_746-2delinsCT | |
2 | g.32136559_32136565delinsTTAGGTG | CA1242501052 | SPAST | c.*906-4_*908delinsTTAGGTG c.1246-4_1248delinsTTAGGTG c.1243-4_1245delinsTTAGGTG c.983-4_985delinsTTAGGTG c.1147-4_1149delinsTTAGGTG c.1020-4_1022delinsTTAGGTG c.988-4_990delinsTTAGGTG c.405-4_407delinsTTAGGTG c.826-4_828delinsTTAGGTG c.1122-4_1124delinsTTAGGTG c.892-4_894delinsTTAGGTG n.1983-4_1985delinsTTAGGTG c.696-4_698delinsTTAGGTG c.593-550_593-544delinsTTAGGTG c.1150-4_1152delinsTTAGGTG n.938-4_940delinsTTAGGTG c.746-4_748delinsTTAGGTG | |
2 | g.32136560T>C | CA2658529154 | SPAST | c.*906-3T>C (n.*906-3T>C) c.1246-3T>C (n.1246-3T>C) c.1243-3T>C (n.1243-3T>C) c.983-3T>C c.1147-3T>C (n.1147-3T>C) c.1020-3T>C c.988-3T>C (n.988-3T>C) c.405-3T>C c.826-3T>C c.1122-3T>C c.892-3T>C (n.892-3T>C) n.1983-3T>C c.696-3T>C c.593-549T>C c.892-3T>C c.1150-3T>C (n.1150-3T>C) n.938-3T>C c.746-3T>C | gnomAD v4 |
2 | g.32136560T>G | CA2658529155 | SPAST | c.*906-3T>G (n.*906-3T>G) c.1246-3T>G (n.1246-3T>G) c.1243-3T>G (n.1243-3T>G) c.983-3T>G c.1147-3T>G (n.1147-3T>G) c.1020-3T>G c.988-3T>G (n.988-3T>G) c.405-3T>G c.826-3T>G c.1122-3T>G c.892-3T>G (n.892-3T>G) n.1983-3T>G c.696-3T>G c.593-549T>G c.892-3T>G c.1150-3T>G (n.1150-3T>G) n.938-3T>G c.746-3T>G | gnomAD v4 |
2 | g.32136560_32136565del | CA1242501053 | SPAST | c.*906-3_*908del c.1246-3_1248del c.1243-3_1245del c.983-3_985del c.1147-3_1149del c.1020-3_1022del c.988-3_990del c.405-3_407del c.826-3_828del c.1122-3_1124del c.892-3_894del n.1983-3_1985del c.696-3_698del c.593-549_593-544del c.1150-3_1152del n.938-3_940del c.746-3_748del | dbSNP |
2 | g.32136561A= | CA1242501056 | SPAST | c.*906-2A= (n.*906-2A=) c.1246-2A= (n.1246-2A=) c.1243-2A= (n.1243-2A=) c.983-2A= c.1147-2A= (n.1147-2A=) c.1020-2A= c.988-2A= (n.988-2A=) c.405-2A= c.826-2A= c.1122-2A= c.892-2A= (n.892-2A=) n.1983-2A= c.696-2A= c.593-548A= c.892-2A= c.1150-2A= (n.1150-2A=) n.938-2A= c.746-2A= | |
2 | g.32136561A>C | CA346501809 | SPAST | c.*906-2A>C (n.*906-2A>C) c.1246-2A>C (n.1246-2A>C) c.1243-2A>C (n.1243-2A>C) c.983-2A>C c.1147-2A>C (n.1147-2A>C) c.1020-2A>C c.988-2A>C (n.988-2A>C) c.405-2A>C c.826-2A>C c.1122-2A>C c.892-2A>C (n.892-2A>C) n.1983-2A>C c.696-2A>C c.593-548A>C c.892-2A>C c.1150-2A>C (n.1150-2A>C) n.938-2A>C c.746-2A>C | |
2 | g.32136561A>G | CA346501811 | SPAST | c.*906-2A>G (n.*906-2A>G) c.1246-2A>G (n.1246-2A>G) c.1243-2A>G (n.1243-2A>G) c.983-2A>G c.1147-2A>G (n.1147-2A>G) c.1020-2A>G c.988-2A>G (n.988-2A>G) c.405-2A>G c.826-2A>G c.1122-2A>G c.892-2A>G (n.892-2A>G) n.1983-2A>G c.696-2A>G c.593-548A>G c.892-2A>G c.1150-2A>G (n.1150-2A>G) n.938-2A>G c.746-2A>G | dbSNP |
2 | g.32136561A>T | CA346501814 | SPAST | c.*906-2A>T (n.*906-2A>T) c.1246-2A>T (n.1246-2A>T) c.1243-2A>T (n.1243-2A>T) c.983-2A>T c.1147-2A>T (n.1147-2A>T) c.1020-2A>T c.988-2A>T (n.988-2A>T) c.405-2A>T c.826-2A>T c.1122-2A>T c.892-2A>T (n.892-2A>T) n.1983-2A>T c.696-2A>T c.593-548A>T c.892-2A>T c.1150-2A>T (n.1150-2A>T) n.938-2A>T c.746-2A>T | |
2 | g.32136562G>A | CA346501816 | SPAST | c.*906-1G>A (n.*906-1G>A) c.1246-1G>A (n.1246-1G>A) c.1243-1G>A (n.1243-1G>A) c.983-1G>A c.1147-1G>A (n.1147-1G>A) c.1020-1G>A c.988-1G>A (n.988-1G>A) c.405-1G>A c.826-1G>A c.1122-1G>A c.892-1G>A (n.892-1G>A) n.1983-1G>A c.696-1G>A c.593-547G>A c.892-1G>A c.1150-1G>A (n.1150-1G>A) n.938-1G>A c.746-1G>A | ClinVar |
2 | g.32136562G>C | CA346501817 | SPAST | c.*906-1G>C (n.*906-1G>C) c.1246-1G>C (n.1246-1G>C) c.1243-1G>C (n.1243-1G>C) c.983-1G>C c.1147-1G>C (n.1147-1G>C) c.1020-1G>C c.988-1G>C (n.988-1G>C) c.405-1G>C c.826-1G>C c.1122-1G>C c.892-1G>C (n.892-1G>C) n.1983-1G>C c.696-1G>C c.593-547G>C c.892-1G>C c.1150-1G>C (n.1150-1G>C) n.938-1G>C c.746-1G>C | dbSNP |
2 | g.32136562G= | CA1242501058 | SPAST | c.*906-1G= (n.*906-1G=) c.1246-1G= (n.1246-1G=) c.1243-1G= (n.1243-1G=) c.983-1G= c.1147-1G= (n.1147-1G=) c.1020-1G= c.988-1G= (n.988-1G=) c.405-1G= c.826-1G= c.1122-1G= c.892-1G= (n.892-1G=) n.1983-1G= c.696-1G= c.593-547G= c.892-1G= c.1150-1G= (n.1150-1G=) n.938-1G= c.746-1G= | |
2 | g.32136562G>T | CA346501819 | SPAST | c.*906-1G>T (n.*906-1G>T) c.1246-1G>T (n.1246-1G>T) c.1243-1G>T (n.1243-1G>T) c.983-1G>T c.1147-1G>T (n.1147-1G>T) c.1020-1G>T c.988-1G>T (n.988-1G>T) c.405-1G>T c.826-1G>T c.1122-1G>T c.892-1G>T (n.892-1G>T) n.1983-1G>T c.696-1G>T c.593-547G>T c.892-1G>T c.1150-1G>T (n.1150-1G>T) n.938-1G>T c.746-1G>T | |
2 | g.32136563_32136567del | CA2586964737 | SPAST | c.*906_*910del c.1246_1250del c.1243_1247del c.983_987del c.1147_1151del c.1020_1024del c.988_992del c.405_409del c.826_830del c.1122_1126del c.892_896del n.1983_1987del c.696_700del c.593-546_593-542del c.1150_1154del n.938_942del c.746_750del | |
2 | g.32136563G>A | CA44749597 | SPAST | c.*906G>A (n.*906G>A) c.1246G>A (p.Val416Met) c.1243G>A (p.Val415Met) c.983G>A c.1147G>A (p.Val383Met) c.1020G>A c.988G>A (p.Val330Met) c.405G>A c.826G>A c.1122G>A c.892G>A (p.Val298Met) n.1983G>A c.696G>A c.593-546G>A c.892G>A c.1150G>A (p.Val384Met) n.938G>A c.746G>A | ClinVar dbSNP gnomAD v4 |
2 | g.32136563G>C | CA346501821 | SPAST | c.*906G>C (n.*906G>C) c.1246G>C (p.Val416Leu) c.1243G>C (p.Val415Leu) c.983G>C c.1147G>C (p.Val383Leu) c.1020G>C c.988G>C (p.Val330Leu) c.405G>C c.826G>C c.1122G>C c.892G>C (p.Val298Leu) n.1983G>C c.696G>C c.593-546G>C c.892G>C c.1150G>C (p.Val384Leu) n.938G>C c.746G>C | |
2 | g.32136563G= | CA1242501059 | SPAST | c.*906G= (n.*906G=) c.1246G= (p.Val416=) c.1243G= (p.Val415=) c.983G= c.1147G= (p.Val383=) c.1020G= c.988G= (p.Val330=) c.405G= c.826G= c.1122G= c.892G= (p.Val298=) n.1983G= c.696G= c.593-546G= c.892G= c.1150G= (p.Val384=) n.938G= c.746G= | |
2 | g.32136563G>T | CA346501822 | SPAST | c.*906G>T (n.*906G>T) c.1246G>T (p.Val416Leu) c.1243G>T (p.Val415Leu) c.983G>T c.1147G>T (p.Val383Leu) c.1020G>T c.988G>T (p.Val330Leu) c.405G>T c.826G>T c.1122G>T c.892G>T (p.Val298Leu) n.1983G>T c.696G>T c.593-546G>T c.892G>T c.1150G>T (p.Val384Leu) n.938G>T c.746G>T | |
2 | g.32136564T>A | CA346501828 | SPAST | c.*907T>A (n.*907T>A) c.1247T>A (p.Val416Glu) c.1244T>A (p.Val415Glu) c.984T>A c.1148T>A (p.Val383Glu) c.1021T>A c.989T>A (p.Val330Glu) c.406T>A c.827T>A c.1123T>A c.893T>A (p.Val298Glu) n.1984T>A c.697T>A c.593-545T>A c.893T>A c.1151T>A (p.Val384Glu) n.939T>A c.747T>A | |
2 | g.32136564T>C | CA346501824 | SPAST | c.*907T>C (n.*907T>C) c.1247T>C (p.Val416Ala) c.1244T>C (p.Val415Ala) c.984T>C c.1148T>C (p.Val383Ala) c.1021T>C c.989T>C (p.Val330Ala) c.406T>C c.827T>C c.1123T>C c.893T>C (p.Val298Ala) n.1984T>C c.697T>C c.593-545T>C c.893T>C c.1151T>C (p.Val384Ala) n.939T>C c.747T>C | ClinVar dbSNP |
2 | g.32136564T>G | CA346501826 | SPAST | c.*907T>G (n.*907T>G) c.1247T>G (p.Val416Gly) c.1244T>G (p.Val415Gly) c.984T>G c.1148T>G (p.Val383Gly) c.1021T>G c.989T>G (p.Val330Gly) c.406T>G c.827T>G c.1123T>G c.893T>G (p.Val298Gly) n.1984T>G c.697T>G c.593-545T>G c.893T>G c.1151T>G (p.Val384Gly) n.939T>G c.747T>G | |
2 | g.32136564T= | CA1242501064 | SPAST | c.*907T= (n.*907T=) c.1247T= (p.Val416=) c.1244T= (p.Val415=) c.984T= c.1148T= (p.Val383=) c.1021T= c.989T= (p.Val330=) c.406T= c.827T= c.1123T= c.893T= (p.Val298=) n.1984T= c.697T= c.593-545T= c.893T= c.1151T= (p.Val384=) n.939T= c.747T= | |
2 | g.32136565G>A | CA425447542 | SPAST | c.*908G>A (n.*908G>A) c.1248G>A (p.Val416=) c.1245G>A (p.Val415=) c.985G>A c.1149G>A (p.Val383=) c.1022G>A c.990G>A (p.Val330=) c.407G>A c.828G>A c.1124G>A c.894G>A (p.Val298=) n.1985G>A c.698G>A c.593-544G>A c.894G>A c.1152G>A (p.Val384=) n.940G>A c.748G>A | |
2 | g.32136565G>C | CA425447544 | SPAST | c.*908G>C (n.*908G>C) c.1248G>C (p.Val416=) c.1245G>C (p.Val415=) c.985G>C c.1149G>C (p.Val383=) c.1022G>C c.990G>C (p.Val330=) c.407G>C c.828G>C c.1124G>C c.894G>C (p.Val298=) n.1985G>C c.698G>C c.593-544G>C c.894G>C c.1152G>C (p.Val384=) n.940G>C c.748G>C | |
2 | g.32136565G>T | CA425447547 | SPAST | c.*908G>T (n.*908G>T) c.1248G>T (p.Val416=) c.1245G>T (p.Val415=) c.985G>T c.1149G>T (p.Val383=) c.1022G>T c.990G>T (p.Val330=) c.407G>T c.828G>T c.1124G>T c.894G>T (p.Val298=) n.1985G>T c.698G>T c.593-544G>T c.894G>T c.1152G>T (p.Val384=) n.940G>T c.748G>T | COSMIC |
2 | g.32136566G>A | CA346501830 | SPAST | c.*909G>A (n.*909G>A) c.1249G>A (p.Gly417Arg) c.1246G>A (p.Gly416Arg) c.986G>A c.1150G>A (p.Gly384Arg) c.1023G>A c.991G>A (p.Gly331Arg) c.408G>A c.829G>A c.1125G>A c.895G>A (p.Gly299Arg) n.1986G>A c.699G>A c.593-543G>A c.895G>A c.1153G>A (p.Gly385Arg) n.941G>A c.749G>A | |
2 | g.32136566G>C | CA346501831 | SPAST | c.*909G>C (n.*909G>C) c.1249G>C (p.Gly417Arg) c.1246G>C (p.Gly416Arg) c.986G>C c.1150G>C (p.Gly384Arg) c.1023G>C c.991G>C (p.Gly331Arg) c.408G>C c.829G>C c.1125G>C c.895G>C (p.Gly299Arg) n.1986G>C c.699G>C c.593-543G>C c.895G>C c.1153G>C (p.Gly385Arg) n.941G>C c.749G>C | |
2 | g.32136566G>T | CA346501832 | SPAST | c.*909G>T (n.*909G>T) c.1249G>T (p.Gly417Ter) c.1246G>T (p.Gly416Ter) c.986G>T c.1150G>T (p.Gly384Ter) c.1023G>T c.991G>T (p.Gly331Ter) c.408G>T c.829G>T c.1125G>T c.895G>T (p.Gly299Ter) n.1986G>T c.699G>T c.593-543G>T c.895G>T c.1153G>T (p.Gly385Ter) n.941G>T c.749G>T | |
2 | g.32136567G>A | CA346501834 | SPAST | c.*910G>A (n.*910G>A) c.1250G>A (p.Gly417Glu) c.1247G>A (p.Gly416Glu) c.987G>A c.1151G>A (p.Gly384Glu) c.1024G>A c.992G>A (p.Gly331Glu) c.409G>A c.830G>A c.1126G>A c.896G>A (p.Gly299Glu) n.1987G>A c.700G>A c.593-542G>A c.896G>A c.1154G>A (p.Gly385Glu) n.942G>A c.750G>A | ClinVar dbSNP |
2 | g.32136567G>C | CA346501835 | SPAST | c.*910G>C (n.*910G>C) c.1250G>C (p.Gly417Ala) c.1247G>C (p.Gly416Ala) c.987G>C c.1151G>C (p.Gly384Ala) c.1024G>C c.992G>C (p.Gly331Ala) c.409G>C c.830G>C c.1126G>C c.896G>C (p.Gly299Ala) n.1987G>C c.700G>C c.593-542G>C c.896G>C c.1154G>C (p.Gly385Ala) n.942G>C c.750G>C | ClinVar dbSNP COSMIC |
2 | g.32136567G= | CA1242501073 | SPAST | c.*910G= (n.*910G=) c.1250G= (p.Gly417=) c.1247G= (p.Gly416=) c.987G= c.1151G= (p.Gly384=) c.1024G= c.992G= (p.Gly331=) c.409G= c.830G= c.1126G= c.896G= (p.Gly299=) n.1987G= c.700G= c.593-542G= c.896G= c.1154G= (p.Gly385=) n.942G= c.750G= | |
2 | g.32136567G>T | CA346501836 | SPAST | c.*910G>T (n.*910G>T) c.1250G>T (p.Gly417Val) c.1247G>T (p.Gly416Val) c.987G>T c.1151G>T (p.Gly384Val) c.1024G>T c.992G>T (p.Gly331Val) c.409G>T c.830G>T c.1126G>T c.896G>T (p.Gly299Val) n.1987G>T c.700G>T c.593-542G>T c.896G>T c.1154G>T (p.Gly385Val) n.942G>T c.750G>T | ClinVar dbSNP |
2 | g.32136567_32136570delinsGAGA | CA1242501080 | SPAST | c.*910_*913delinsGAGA (n.*910_*913delinsGAGA) c.1250_1253delinsGAGA (p.Gly417=) c.1247_1250delinsGAGA (p.Gly416=) c.987_990delinsGAGA c.1151_1154delinsGAGA (p.Gly384=) c.1024_1027delinsGAGA c.992_995delinsGAGA (p.Gly331=) c.409_412delinsGAGA c.830_833delinsGAGA c.1126_1129delinsGAGA c.896_899delinsGAGA (p.Gly299=) n.1987_1990delinsGAGA c.700_703delinsGAGA c.593-542_593-539delinsGAGA c.896_899delinsGAGA c.1154_1157delinsGAGA (p.Gly385=) n.942_945delinsGAGA c.750_753delinsGAGA | |
2 | g.32136568A= | CA1242501096 | SPAST | c.*911A= (n.*911A=) c.1251A= (p.Gly417=) c.1248A= (p.Gly416=) c.988A= c.1152A= (p.Gly384=) c.1025A= c.993A= (p.Gly331=) c.410A= c.831A= c.1127A= c.897A= (p.Gly299=) n.1988A= c.701A= c.593-541A= c.897A= c.1155A= (p.Gly385=) n.943A= c.751A= | |
2 | g.32136568A>C | CA44749603 | SPAST | c.*911A>C (n.*911A>C) c.1251A>C (p.Gly417=) c.1248A>C (p.Gly416=) c.988A>C c.1152A>C (p.Gly384=) c.1025A>C c.993A>C (p.Gly331=) c.410A>C c.831A>C c.1127A>C c.897A>C (p.Gly299=) n.1988A>C c.701A>C c.593-541A>C c.897A>C c.1155A>C (p.Gly385=) n.943A>C c.751A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32136568A>G | CA425447561 | SPAST | c.*911A>G (n.*911A>G) c.1251A>G (p.Gly417=) c.1248A>G (p.Gly416=) c.988A>G c.1152A>G (p.Gly384=) c.1025A>G c.993A>G (p.Gly331=) c.410A>G c.831A>G c.1127A>G c.897A>G (p.Gly299=) n.1988A>G c.701A>G c.593-541A>G c.897A>G c.1155A>G (p.Gly385=) n.943A>G c.751A>G | |
2 | g.32136568A>T | CA425447558 | SPAST | c.*911A>T (n.*911A>T) c.1251A>T (p.Gly417=) c.1248A>T (p.Gly416=) c.988A>T c.1152A>T (p.Gly384=) c.1025A>T c.993A>T (p.Gly331=) c.410A>T c.831A>T c.1127A>T c.897A>T (p.Gly299=) n.1988A>T c.701A>T c.593-541A>T c.897A>T c.1155A>T (p.Gly385=) n.943A>T c.751A>T | |
2 | g.32136568_32136572delinsAGAAG | CA1242501092 | SPAST | c.*911_*915delinsAGAAG (n.*911_*915delinsAGAAG) c.1251_1255delinsAGAAG (p.Gly417=) c.1248_1252delinsAGAAG (p.Gly416=) c.988_992delinsAGAAG c.1152_1156delinsAGAAG (p.Gly384=) c.1025_1029delinsAGAAG c.993_997delinsAGAAG (p.Gly331=) c.410_414delinsAGAAG c.831_835delinsAGAAG c.1127_1131delinsAGAAG c.897_901delinsAGAAG (p.Gly299=) n.1988_1992delinsAGAAG c.701_705delinsAGAAG c.593-541_593-537delinsAGAAG c.897_901delinsAGAAG c.1155_1159delinsAGAAG (p.Gly385=) n.943_947delinsAGAAG c.751_755delinsAGAAG | |
2 | g.32136570_32136572del | CA913190206 | SPAST | c.*913_*915del (n.*913_*915del) c.1253_1255del (p.Glu418del) c.1250_1252del (p.Glu417del) c.990_992del c.1154_1156del (p.Glu385del) c.1027_1029del c.995_997del (p.Glu332del) c.412_414del c.833_835del c.1129_1131del c.899_901del (p.Glu300del) n.1990_1992del c.703_705del c.593-539_593-537del c.899_901del c.1157_1159del (p.Glu386del) n.945_947del c.753_755del | ClinVar dbSNP |
2 | g.32136569G>A | CA346501837 | SPAST | c.*912G>A (n.*912G>A) c.1252G>A (p.Glu418Lys) c.1249G>A (p.Glu417Lys) c.989G>A c.1153G>A (p.Glu385Lys) c.1026G>A c.994G>A (p.Glu332Lys) c.411G>A c.832G>A c.1128G>A c.898G>A (p.Glu300Lys) n.1989G>A c.702G>A c.593-540G>A c.898G>A c.1156G>A (p.Glu386Lys) n.944G>A c.752G>A | ClinVar dbSNP |
2 | g.32136569G>C | CA346501838 | SPAST | c.*912G>C (n.*912G>C) c.1252G>C (p.Glu418Gln) c.1249G>C (p.Glu417Gln) c.989G>C c.1153G>C (p.Glu385Gln) c.1026G>C c.994G>C (p.Glu332Gln) c.411G>C c.832G>C c.1128G>C c.898G>C (p.Glu300Gln) n.1989G>C c.702G>C c.593-540G>C c.898G>C c.1156G>C (p.Glu386Gln) n.944G>C c.752G>C | |
2 | g.32136569G= | CA1242501103 | SPAST | c.*912G= (n.*912G=) c.1252G= (p.Glu418=) c.1249G= (p.Glu417=) c.989G= c.1153G= (p.Glu385=) c.1026G= c.994G= (p.Glu332=) c.411G= c.832G= c.1128G= c.898G= (p.Glu300=) n.1989G= c.702G= c.593-540G= c.898G= c.1156G= (p.Glu386=) n.944G= c.752G= | |
2 | g.32136569G>T | CA346501839 | SPAST | c.*912G>T (n.*912G>T) c.1252G>T (p.Glu418Ter) c.1249G>T (p.Glu417Ter) c.989G>T c.1153G>T (p.Glu385Ter) c.1026G>T c.994G>T (p.Glu332Ter) c.411G>T c.832G>T c.1128G>T c.898G>T (p.Glu300Ter) n.1989G>T c.702G>T c.593-540G>T c.898G>T c.1156G>T (p.Glu386Ter) n.944G>T c.752G>T | ClinVar dbSNP |
2 | g.32136571_32136574del | CA1242501101 | SPAST | c.*914_*917del (n.*914_*917del) c.1254_1257del (p.Gly419ArgfsTer4) c.1251_1254del (p.Gly418ArgfsTer4) c.991_994del c.1155_1158del (p.Gly386ArgfsTer4) c.1028_1031del c.996_999del (p.Gly333ArgfsTer4) c.413_416del c.834_837del c.1130_1133del c.900_903del (p.Gly301ArgfsTer4) n.1991_1994del c.704_707del c.593-538_593-535del c.900_903del c.1158_1161del (p.Gly387ArgfsTer4) n.946_949del c.754_757del | dbSNP |
2 | g.32136570A>C | CA346501840 | SPAST | c.*913A>C (n.*913A>C) c.1253A>C (p.Glu418Ala) c.1250A>C (p.Glu417Ala) c.990A>C c.1154A>C (p.Glu385Ala) c.1027A>C c.995A>C (p.Glu332Ala) c.412A>C c.833A>C c.1129A>C c.899A>C (p.Glu300Ala) n.1990A>C c.703A>C c.593-539A>C c.899A>C c.1157A>C (p.Glu386Ala) n.945A>C c.753A>C | |
2 | g.32136570A>G | CA346501842 | SPAST | c.*913A>G (n.*913A>G) c.1253A>G (p.Glu418Gly) c.1250A>G (p.Glu417Gly) c.990A>G c.1154A>G (p.Glu385Gly) c.1027A>G c.995A>G (p.Glu332Gly) c.412A>G c.833A>G c.1129A>G c.899A>G (p.Glu300Gly) n.1990A>G c.703A>G c.593-539A>G c.899A>G c.1157A>G (p.Glu386Gly) n.945A>G c.753A>G | ClinVar dbSNP gnomAD v4 |
2 | g.32136570A>T | CA346501843 | SPAST | c.*913A>T (n.*913A>T) c.1253A>T (p.Glu418Val) c.1250A>T (p.Glu417Val) c.990A>T c.1154A>T (p.Glu385Val) c.1027A>T c.995A>T (p.Glu332Val) c.412A>T c.833A>T c.1129A>T c.899A>T (p.Glu300Val) n.1990A>T c.703A>T c.593-539A>T c.899A>T c.1157A>T (p.Glu386Val) n.945A>T c.753A>T | |
2 | g.32136570_32136571dup | CA2658529156 | SPAST | c.*913_*914dup (n.*913_*914dup) c.1253_1254dup (p.Gly419LysfsTer6) c.1250_1251dup (p.Gly418LysfsTer6) c.990_991dup c.1154_1155dup (p.Gly386LysfsTer6) c.1027_1028dup c.995_996dup (p.Gly333LysfsTer6) c.412_413dup c.833_834dup c.1129_1130dup c.899_900dup (p.Gly301LysfsTer6) n.1990_1991dup c.703_704dup c.593-539_593-538dup c.899_900dup c.1157_1158dup (p.Gly387LysfsTer6) n.945_946dup c.753_754dup | gnomAD v4 |
2 | g.32136571A>C | CA346501848 | SPAST | c.*914A>C (n.*914A>C) c.1254A>C (p.Glu418Asp) c.1251A>C (p.Glu417Asp) c.991A>C c.1155A>C (p.Glu385Asp) c.1028A>C c.996A>C (p.Glu332Asp) c.413A>C c.834A>C c.1130A>C c.900A>C (p.Glu300Asp) n.1991A>C c.704A>C c.593-538A>C c.900A>C c.1158A>C (p.Glu386Asp) n.946A>C c.754A>C | |
2 | g.32136571A>G | CA425447594 | SPAST | c.*914A>G (n.*914A>G) c.1254A>G (p.Glu418=) c.1251A>G (p.Glu417=) c.991A>G c.1155A>G (p.Glu385=) c.1028A>G c.996A>G (p.Glu332=) c.413A>G c.834A>G c.1130A>G c.900A>G (p.Glu300=) n.1991A>G c.704A>G c.593-538A>G c.900A>G c.1158A>G (p.Glu386=) n.946A>G c.754A>G | |
2 | g.32136571A>T | CA346501845 | SPAST | c.*914A>T (n.*914A>T) c.1254A>T (p.Glu418Asp) c.1251A>T (p.Glu417Asp) c.991A>T c.1155A>T (p.Glu385Asp) c.1028A>T c.996A>T (p.Glu332Asp) c.413A>T c.834A>T c.1130A>T c.900A>T (p.Glu300Asp) n.1991A>T c.704A>T c.593-538A>T c.900A>T c.1158A>T (p.Glu386Asp) n.946A>T c.754A>T | |
2 | g.32136572G>A | CA346501849 | SPAST | c.*915G>A (n.*915G>A) c.1255G>A (p.Gly419Arg) c.1252G>A (p.Gly418Arg) c.992G>A c.1156G>A (p.Gly386Arg) c.1029G>A c.997G>A (p.Gly333Arg) c.414G>A c.835G>A c.1131G>A c.901G>A (p.Gly301Arg) n.1992G>A c.705G>A c.593-537G>A c.901G>A c.1159G>A (p.Gly387Arg) n.947G>A c.755G>A | ClinVar gnomAD v4 |
2 | g.32136572G>C | CA346501851 | SPAST | c.*915G>C (n.*915G>C) c.1255G>C (p.Gly419Arg) c.1252G>C (p.Gly418Arg) c.992G>C c.1156G>C (p.Gly386Arg) c.1029G>C c.997G>C (p.Gly333Arg) c.414G>C c.835G>C c.1131G>C c.901G>C (p.Gly301Arg) n.1992G>C c.705G>C c.593-537G>C c.901G>C c.1159G>C (p.Gly387Arg) n.947G>C c.755G>C | |
2 | g.32136572G>T | CA346501850 | SPAST | c.*915G>T (n.*915G>T) c.1255G>T (p.Gly419Ter) c.1252G>T (p.Gly418Ter) c.992G>T c.1156G>T (p.Gly386Ter) c.1029G>T c.997G>T (p.Gly333Ter) c.414G>T c.835G>T c.1131G>T c.901G>T (p.Gly301Ter) n.1992G>T c.705G>T c.593-537G>T c.901G>T c.1159G>T (p.Gly387Ter) n.947G>T c.755G>T | |
2 | g.32136573G>A | CA346501853 | SPAST | c.*916G>A (n.*916G>A) c.1256G>A (p.Gly419Glu) c.1253G>A (p.Gly418Glu) c.993G>A c.1157G>A (p.Gly386Glu) c.1030G>A c.998G>A (p.Gly333Glu) c.415G>A c.836G>A c.1132G>A c.902G>A (p.Gly301Glu) n.1993G>A c.706G>A c.593-536G>A c.902G>A c.1160G>A (p.Gly387Glu) n.948G>A c.756G>A | |
2 | g.32136573G>C | CA346501854 | SPAST | c.*916G>C (n.*916G>C) c.1256G>C (p.Gly419Ala) c.1253G>C (p.Gly418Ala) c.993G>C c.1157G>C (p.Gly386Ala) c.1030G>C c.998G>C (p.Gly333Ala) c.415G>C c.836G>C c.1132G>C c.902G>C (p.Gly301Ala) n.1993G>C c.706G>C c.593-536G>C c.902G>C c.1160G>C (p.Gly387Ala) n.948G>C c.756G>C | |
2 | g.32136573G>T | CA346501856 | SPAST | c.*916G>T (n.*916G>T) c.1256G>T (p.Gly419Val) c.1253G>T (p.Gly418Val) c.993G>T c.1157G>T (p.Gly386Val) c.1030G>T c.998G>T (p.Gly333Val) c.415G>T c.836G>T c.1132G>T c.902G>T (p.Gly301Val) n.1993G>T c.706G>T c.593-536G>T c.902G>T c.1160G>T (p.Gly387Val) n.948G>T c.756G>T | ClinVar |
2 | g.32136574A= | CA1242501111 | SPAST | c.*917A= (n.*917A=) c.1257A= (p.Gly419=) c.1254A= (p.Gly418=) c.994A= c.1158A= (p.Gly386=) c.1031A= c.999A= (p.Gly333=) c.416A= c.837A= c.1133A= c.903A= (p.Gly301=) n.1994A= c.707A= c.593-535A= c.903A= c.1161A= (p.Gly387=) n.949A= c.757A= | |
2 | g.32136574A>C | CA425447616 | SPAST | c.*917A>C (n.*917A>C) c.1257A>C (p.Gly419=) c.1254A>C (p.Gly418=) c.994A>C c.1158A>C (p.Gly386=) c.1031A>C c.999A>C (p.Gly333=) c.416A>C c.837A>C c.1133A>C c.903A>C (p.Gly301=) n.1994A>C c.707A>C c.593-535A>C c.903A>C c.1161A>C (p.Gly387=) n.949A>C c.757A>C | |
2 | g.32136574A>G | CA425447618 | SPAST | c.*917A>G (n.*917A>G) c.1257A>G (p.Gly419=) c.1254A>G (p.Gly418=) c.994A>G c.1158A>G (p.Gly386=) c.1031A>G c.999A>G (p.Gly333=) c.416A>G c.837A>G c.1133A>G c.903A>G (p.Gly301=) n.1994A>G c.707A>G c.593-535A>G c.903A>G c.1161A>G (p.Gly387=) n.949A>G c.757A>G | dbSNP |
2 | g.32136574A>T | CA425447620 | SPAST | c.*917A>T (n.*917A>T) c.1257A>T (p.Gly419=) c.1254A>T (p.Gly418=) c.994A>T c.1158A>T (p.Gly386=) c.1031A>T c.999A>T (p.Gly333=) c.416A>T c.837A>T c.1133A>T c.903A>T (p.Gly301=) n.1994A>T c.707A>T c.593-535A>T c.903A>T c.1161A>T (p.Gly387=) n.949A>T c.757A>T | dbSNP |
2 | g.32136574_32136585del | CA2586964739 | SPAST | c.*917_*928del (n.*917_*928del) c.1257_1268del (p.Glu420_Val423del) c.1254_1265del (p.Glu419_Val422del) c.994_1005del c.1158_1169del (p.Glu387_Val390del) c.1031_1042del c.999_1010del (p.Glu334_Val337del) c.416_427del c.837_848del c.1133_1144del c.903_914del (p.Glu302_Val305del) n.1994_2005del c.707_718del c.593-535_593-524del c.903_914del c.1161_1172del (p.Glu388_Val391del) n.949_960del c.757_768del | |
2 | g.32136575G>A | CA346501859 | SPAST | c.*918G>A (n.*918G>A) c.1258G>A (p.Glu420Lys) c.1255G>A (p.Glu419Lys) c.995G>A c.1159G>A (p.Glu387Lys) c.1032G>A c.1000G>A (p.Glu334Lys) c.417G>A c.838G>A c.1134G>A c.904G>A (p.Glu302Lys) n.1995G>A c.708G>A c.593-534G>A c.904G>A c.1162G>A (p.Glu388Lys) n.950G>A c.758G>A | |
2 | g.32136575G>C | CA346501860 | SPAST | c.*918G>C (n.*918G>C) c.1258G>C (p.Glu420Gln) c.1255G>C (p.Glu419Gln) c.995G>C c.1159G>C (p.Glu387Gln) c.1032G>C c.1000G>C (p.Glu334Gln) c.417G>C c.838G>C c.1134G>C c.904G>C (p.Glu302Gln) n.1995G>C c.708G>C c.593-534G>C c.904G>C c.1162G>C (p.Glu388Gln) n.950G>C c.758G>C | ClinVar dbSNP |
2 | g.32136575G= | CA1242501116 | SPAST | c.*918G= (n.*918G=) c.1258G= (p.Glu420=) c.1255G= (p.Glu419=) c.995G= c.1159G= (p.Glu387=) c.1032G= c.1000G= (p.Glu334=) c.417G= c.838G= c.1134G= c.904G= (p.Glu302=) n.1995G= c.708G= c.593-534G= c.904G= c.1162G= (p.Glu388=) n.950G= c.758G= | |
2 | g.32136575G>T | CA346501861 | SPAST | c.*918G>T (n.*918G>T) c.1258G>T (p.Glu420Ter) c.1255G>T (p.Glu419Ter) c.995G>T c.1159G>T (p.Glu387Ter) c.1032G>T c.1000G>T (p.Glu334Ter) c.417G>T c.838G>T c.1134G>T c.904G>T (p.Glu302Ter) n.1995G>T c.708G>T c.593-534G>T c.904G>T c.1162G>T (p.Glu388Ter) n.950G>T c.758G>T | |
2 | g.32136576A>C | CA346501863 | SPAST | c.*919A>C (n.*919A>C) c.1259A>C (p.Glu420Ala) c.1256A>C (p.Glu419Ala) c.996A>C c.1160A>C (p.Glu387Ala) c.1033A>C c.1001A>C (p.Glu334Ala) c.418A>C c.839A>C c.1135A>C c.905A>C (p.Glu302Ala) n.1996A>C c.709A>C c.593-533A>C c.905A>C c.1163A>C (p.Glu388Ala) n.951A>C c.759A>C | |
2 | g.32136576A>G | CA346501865 | SPAST | c.*919A>G (n.*919A>G) c.1259A>G (p.Glu420Gly) c.1256A>G (p.Glu419Gly) c.996A>G c.1160A>G (p.Glu387Gly) c.1033A>G c.1001A>G (p.Glu334Gly) c.418A>G c.839A>G c.1135A>G c.905A>G (p.Glu302Gly) n.1996A>G c.709A>G c.593-533A>G c.905A>G c.1163A>G (p.Glu388Gly) n.951A>G c.759A>G | ClinVar dbSNP |
2 | g.32136576A>T | CA346501867 | SPAST | c.*919A>T (n.*919A>T) c.1259A>T (p.Glu420Val) c.1256A>T (p.Glu419Val) c.996A>T c.1160A>T (p.Glu387Val) c.1033A>T c.1001A>T (p.Glu334Val) c.418A>T c.839A>T c.1135A>T c.905A>T (p.Glu302Val) n.1996A>T c.709A>T c.593-533A>T c.905A>T c.1163A>T (p.Glu388Val) n.951A>T c.759A>T | |
2 | g.32136577G>A | CA425447633 | SPAST | c.*920G>A (n.*920G>A) c.1260G>A (p.Glu420=) c.1257G>A (p.Glu419=) c.997G>A c.1161G>A (p.Glu387=) c.1034G>A c.1002G>A (p.Glu334=) c.419G>A c.840G>A c.1136G>A c.906G>A (p.Glu302=) n.1997G>A c.710G>A c.593-532G>A c.906G>A c.1164G>A (p.Glu388=) n.952G>A c.760G>A | |
2 | g.32136577G>C | CA346501868 | SPAST | c.*920G>C (n.*920G>C) c.1260G>C (p.Glu420Asp) c.1257G>C (p.Glu419Asp) c.997G>C c.1161G>C (p.Glu387Asp) c.1034G>C c.1002G>C (p.Glu334Asp) c.419G>C c.840G>C c.1136G>C c.906G>C (p.Glu302Asp) n.1997G>C c.710G>C c.593-532G>C c.906G>C c.1164G>C (p.Glu388Asp) n.952G>C c.760G>C | dbSNP |
2 | g.32136577G= | CA1242501121 | SPAST | c.*920G= (n.*920G=) c.1260G= (p.Glu420=) c.1257G= (p.Glu419=) c.997G= c.1161G= (p.Glu387=) c.1034G= c.1002G= (p.Glu334=) c.419G= c.840G= c.1136G= c.906G= (p.Glu302=) n.1997G= c.710G= c.593-532G= c.906G= c.1164G= (p.Glu388=) n.952G= c.760G= | |
2 | g.32136577G>T | CA346501869 | SPAST | c.*920G>T (n.*920G>T) c.1260G>T (p.Glu420Asp) c.1257G>T (p.Glu419Asp) c.997G>T c.1161G>T (p.Glu387Asp) c.1034G>T c.1002G>T (p.Glu334Asp) c.419G>T c.840G>T c.1136G>T c.906G>T (p.Glu302Asp) n.1997G>T c.710G>T c.593-532G>T c.906G>T c.1164G>T (p.Glu388Asp) n.952G>T c.760G>T | ClinVar dbSNP |
2 | g.32136577_32136579delinsGAA | CA1242501123 | SPAST | c.*920_*922delinsGAA (n.*920_*922delinsGAA) c.1260_1262delinsGAA (p.Glu420=) c.1257_1259delinsGAA (p.Glu419=) c.997_999delinsGAA c.1161_1163delinsGAA (p.Glu387=) c.1034_1036delinsGAA c.1002_1004delinsGAA (p.Glu334=) c.419_421delinsGAA c.840_842delinsGAA c.1136_1138delinsGAA c.906_908delinsGAA (p.Glu302=) n.1997_1999delinsGAA c.710_712delinsGAA c.593-532_593-530delinsGAA c.906_908delinsGAA c.1164_1166delinsGAA (p.Glu388=) n.952_954delinsGAA c.760_762delinsGAA | |
2 | g.32136578A= | CA1242501134 | SPAST | c.*921A= (n.*921A=) c.1261A= (p.Lys421=) c.1258A= (p.Lys420=) c.998A= c.1162A= (p.Lys388=) c.1035A= c.1003A= (p.Lys335=) c.420A= c.841A= c.1137A= c.907A= (p.Lys303=) n.1998A= c.711A= c.593-531A= c.907A= c.1165A= (p.Lys389=) n.953A= c.761A= | |
2 | g.32136578A>C | CA346501872 | SPAST | c.*921A>C (n.*921A>C) c.1261A>C (p.Lys421Gln) c.1258A>C (p.Lys420Gln) c.998A>C c.1162A>C (p.Lys388Gln) c.1035A>C c.1003A>C (p.Lys335Gln) c.420A>C c.841A>C c.1137A>C c.907A>C (p.Lys303Gln) n.1998A>C c.711A>C c.593-531A>C c.907A>C c.1165A>C (p.Lys389Gln) n.953A>C c.761A>C | |
2 | g.32136578A>G | CA346501871 | SPAST | c.*921A>G (n.*921A>G) c.1261A>G (p.Lys421Glu) c.1258A>G (p.Lys420Glu) c.998A>G c.1162A>G (p.Lys388Glu) c.1035A>G c.1003A>G (p.Lys335Glu) c.420A>G c.841A>G c.1137A>G c.907A>G (p.Lys303Glu) n.1998A>G c.711A>G c.593-531A>G c.907A>G c.1165A>G (p.Lys389Glu) n.953A>G c.761A>G | ClinVar dbSNP |
2 | g.32136578A>T | CA346501870 | SPAST | c.*921A>T (n.*921A>T) c.1261A>T (p.Lys421Ter) c.1258A>T (p.Lys420Ter) c.998A>T c.1162A>T (p.Lys388Ter) c.1035A>T c.1003A>T (p.Lys335Ter) c.420A>T c.841A>T c.1137A>T c.907A>T (p.Lys303Ter) n.1998A>T c.711A>T c.593-531A>T c.907A>T c.1165A>T (p.Lys389Ter) n.953A>T c.761A>T | |
2 | g.32136580del | CA2499215906 | SPAST | c.*923del (n.*923del) c.1263del (p.Lys421AsnfsTer3) c.1260del (p.Lys420AsnfsTer3) c.1000del c.1164del (p.Lys388AsnfsTer3) c.1037del c.1005del (p.Lys335AsnfsTer3) c.422del c.843del c.1139del c.909del (p.Lys303AsnfsTer3) n.2000del c.713del c.593-529del c.909del c.1167del (p.Lys389AsnfsTer3) n.955del c.763del | ClinVar dbSNP |
2 | g.32136579_32136580del | CA1139656823 | SPAST | c.*922_*923del (n.*922_*923del) c.1262_1263del (p.Lys421IlefsTer21) c.1259_1260del (p.Lys420IlefsTer21) c.999_1000del c.1163_1164del (p.Lys388IlefsTer21) c.1036_1037del c.1004_1005del (p.Lys335IlefsTer21) c.421_422del c.842_843del c.1138_1139del c.908_909del (p.Lys303IlefsTer21) n.1999_2000del c.712_713del c.593-530_593-529del c.908_909del c.1166_1167del (p.Lys389IlefsTer21) n.954_955del c.762_763del | ClinVar dbSNP |
2 | g.32136579A>C | CA346502016 | SPAST | c.*922A>C (n.*922A>C) c.1262A>C (p.Lys421Thr) c.1259A>C (p.Lys420Thr) c.999A>C c.1163A>C (p.Lys388Thr) c.1036A>C c.1004A>C (p.Lys335Thr) c.421A>C c.842A>C c.1138A>C c.908A>C (p.Lys303Thr) n.1999A>C c.712A>C c.593-530A>C c.908A>C c.1166A>C (p.Lys389Thr) n.954A>C c.762A>C | |
2 | g.32136579A>G | CA346502017 | SPAST | c.*922A>G (n.*922A>G) c.1262A>G (p.Lys421Arg) c.1259A>G (p.Lys420Arg) c.999A>G c.1163A>G (p.Lys388Arg) c.1036A>G c.1004A>G (p.Lys335Arg) c.421A>G c.842A>G c.1138A>G c.908A>G (p.Lys303Arg) n.1999A>G c.712A>G c.593-530A>G c.908A>G c.1166A>G (p.Lys389Arg) n.954A>G c.762A>G | |
2 | g.32136579A>T | CA346502018 | SPAST | c.*922A>T (n.*922A>T) c.1262A>T (p.Lys421Ile) c.1259A>T (p.Lys420Ile) c.999A>T c.1163A>T (p.Lys388Ile) c.1036A>T c.1004A>T (p.Lys335Ile) c.421A>T c.842A>T c.1138A>T c.908A>T (p.Lys303Ile) n.1999A>T c.712A>T c.593-530A>T c.908A>T c.1166A>T (p.Lys389Ile) n.954A>T c.762A>T | |
2 | g.32136580A= | CA1242501143 | SPAST | c.*923A= (n.*923A=) c.1263A= (p.Lys421=) c.1260A= (p.Lys420=) c.1000A= c.1164A= (p.Lys388=) c.1037A= c.1005A= (p.Lys335=) c.422A= c.843A= c.1139A= c.909A= (p.Lys303=) n.2000A= c.713A= c.593-529A= c.909A= c.1167A= (p.Lys389=) n.955A= c.763A= | |
2 | g.32136580A>C | CA346502019 | SPAST | c.*923A>C (n.*923A>C) c.1263A>C (p.Lys421Asn) c.1260A>C (p.Lys420Asn) c.1000A>C c.1164A>C (p.Lys388Asn) c.1037A>C c.1005A>C (p.Lys335Asn) c.422A>C c.843A>C c.1139A>C c.909A>C (p.Lys303Asn) n.2000A>C c.713A>C c.593-529A>C c.909A>C c.1167A>C (p.Lys389Asn) n.955A>C c.763A>C | |
2 | g.32136580A>G | CA425448329 | SPAST | c.*923A>G (n.*923A>G) c.1263A>G (p.Lys421=) c.1260A>G (p.Lys420=) c.1000A>G c.1164A>G (p.Lys388=) c.1037A>G c.1005A>G (p.Lys335=) c.422A>G c.843A>G c.1139A>G c.909A>G (p.Lys303=) n.2000A>G c.713A>G c.593-529A>G c.909A>G c.1167A>G (p.Lys389=) n.955A>G c.763A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32136580A>T | CA346502020 | SPAST | c.*923A>T (n.*923A>T) c.1263A>T (p.Lys421Asn) c.1260A>T (p.Lys420Asn) c.1000A>T c.1164A>T (p.Lys388Asn) c.1037A>T c.1005A>T (p.Lys335Asn) c.422A>T c.843A>T c.1139A>T c.909A>T (p.Lys303Asn) n.2000A>T c.713A>T c.593-529A>T c.909A>T c.1167A>T (p.Lys389Asn) n.955A>T c.763A>T | |
2 | g.32136581T>A | CA346502021 | SPAST | c.*924T>A (n.*924T>A) c.1264T>A (p.Leu422Met) c.1261T>A (p.Leu421Met) c.1001T>A c.1165T>A (p.Leu389Met) c.1038T>A c.1006T>A (p.Leu336Met) c.423T>A c.844T>A c.1140T>A c.910T>A (p.Leu304Met) n.2001T>A c.714T>A c.593-528T>A c.910T>A c.1168T>A (p.Leu390Met) n.956T>A c.764T>A | |
2 | g.32136581T>C | CA44749609 | SPAST | c.*924T>C (n.*924T>C) c.1264T>C (p.Leu422=) c.1261T>C (p.Leu421=) c.1001T>C c.1165T>C (p.Leu389=) c.1038T>C c.1006T>C (p.Leu336=) c.423T>C c.844T>C c.1140T>C c.910T>C (p.Leu304=) n.2001T>C c.714T>C c.593-528T>C c.910T>C c.1168T>C (p.Leu390=) n.956T>C c.764T>C | dbSNP gnomAD v4 |
2 | g.32136581T>G | CA346502022 | SPAST | c.*924T>G (n.*924T>G) c.1264T>G (p.Leu422Val) c.1261T>G (p.Leu421Val) c.1001T>G c.1165T>G (p.Leu389Val) c.1038T>G c.1006T>G (p.Leu336Val) c.423T>G c.844T>G c.1140T>G c.910T>G (p.Leu304Val) n.2001T>G c.714T>G c.593-528T>G c.910T>G c.1168T>G (p.Leu390Val) n.956T>G c.764T>G | |
2 | g.32136581T= | CA1242501146 | SPAST | c.*924T= (n.*924T=) c.1264T= (p.Leu422=) c.1261T= (p.Leu421=) c.1001T= c.1165T= (p.Leu389=) c.1038T= c.1006T= (p.Leu336=) c.423T= c.844T= c.1140T= c.910T= (p.Leu304=) n.2001T= c.714T= c.593-528T= c.910T= c.1168T= (p.Leu390=) n.956T= c.764T= | |
2 | g.32136582T>A | CA346502023 | SPAST | c.*925T>A (n.*925T>A) c.1265T>A (p.Leu422Ter) c.1262T>A (p.Leu421Ter) c.1002T>A c.1166T>A (p.Leu389Ter) c.1039T>A c.1007T>A (p.Leu336Ter) c.424T>A c.845T>A c.1141T>A c.911T>A (p.Leu304Ter) n.2002T>A c.715T>A c.593-527T>A c.911T>A c.1169T>A (p.Leu390Ter) n.957T>A c.765T>A | |
2 | g.32136582T>C | CA346502024 | SPAST | c.*925T>C (n.*925T>C) c.1265T>C (p.Leu422Ser) c.1262T>C (p.Leu421Ser) c.1002T>C c.1166T>C (p.Leu389Ser) c.1039T>C c.1007T>C (p.Leu336Ser) c.424T>C c.845T>C c.1141T>C c.911T>C (p.Leu304Ser) n.2002T>C c.715T>C c.593-527T>C c.911T>C c.1169T>C (p.Leu390Ser) n.957T>C c.765T>C | |
2 | g.32136582T>G | CA346502025 | SPAST | c.*925T>G (n.*925T>G) c.1265T>G (p.Leu422Trp) c.1262T>G (p.Leu421Trp) c.1002T>G c.1166T>G (p.Leu389Trp) c.1039T>G c.1007T>G (p.Leu336Trp) c.424T>G c.845T>G c.1141T>G c.911T>G (p.Leu304Trp) n.2002T>G c.715T>G c.593-527T>G c.911T>G c.1169T>G (p.Leu390Trp) n.957T>G c.765T>G | |
2 | g.32136583G>A | CA425448349 | SPAST | c.*926G>A (n.*926G>A) c.1266G>A (p.Leu422=) c.1263G>A (p.Leu421=) c.1003G>A c.1167G>A (p.Leu389=) c.1040G>A c.1008G>A (p.Leu336=) c.425G>A c.846G>A c.1142G>A c.912G>A (p.Leu304=) n.2003G>A c.716G>A c.593-526G>A c.912G>A c.1170G>A (p.Leu390=) n.958G>A c.766G>A | |
2 | g.32136583G>C | CA346502026 | SPAST | c.*926G>C (n.*926G>C) c.1266G>C (p.Leu422Phe) c.1263G>C (p.Leu421Phe) c.1003G>C c.1167G>C (p.Leu389Phe) c.1040G>C c.1008G>C (p.Leu336Phe) c.425G>C c.846G>C c.1142G>C c.912G>C (p.Leu304Phe) n.2003G>C c.716G>C c.593-526G>C c.912G>C c.1170G>C (p.Leu390Phe) n.958G>C c.766G>C | ClinVar dbSNP |
2 | g.32136583G= | CA1242501151 | SPAST | c.*926G= (n.*926G=) c.1266G= (p.Leu422=) c.1263G= (p.Leu421=) c.1003G= c.1167G= (p.Leu389=) c.1040G= c.1008G= (p.Leu336=) c.425G= c.846G= c.1142G= c.912G= (p.Leu304=) n.2003G= c.716G= c.593-526G= c.912G= c.1170G= (p.Leu390=) n.958G= c.766G= | |
2 | g.32136583G>T | CA346502027 | SPAST | c.*926G>T (n.*926G>T) c.1266G>T (p.Leu422Phe) c.1263G>T (p.Leu421Phe) c.1003G>T c.1167G>T (p.Leu389Phe) c.1040G>T c.1008G>T (p.Leu336Phe) c.425G>T c.846G>T c.1142G>T c.912G>T (p.Leu304Phe) n.2003G>T c.716G>T c.593-526G>T c.912G>T c.1170G>T (p.Leu390Phe) n.958G>T c.766G>T | ClinVar dbSNP |
2 | g.32136584G>A | CA346502028 | SPAST | c.*927G>A (n.*927G>A) c.1267G>A (p.Val423Met) c.1264G>A (p.Val422Met) c.1004G>A c.1168G>A (p.Val390Met) c.1041G>A c.1009G>A (p.Val337Met) c.426G>A c.847G>A c.1143G>A c.913G>A (p.Val305Met) n.2004G>A c.717G>A c.593-525G>A c.913G>A c.1171G>A (p.Val391Met) n.959G>A c.767G>A | |
2 | g.32136584G>C | CA346502030 | SPAST | c.*927G>C (n.*927G>C) c.1267G>C (p.Val423Leu) c.1264G>C (p.Val422Leu) c.1004G>C c.1168G>C (p.Val390Leu) c.1041G>C c.1009G>C (p.Val337Leu) c.426G>C c.847G>C c.1143G>C c.913G>C (p.Val305Leu) n.2004G>C c.717G>C c.593-525G>C c.913G>C c.1171G>C (p.Val391Leu) n.959G>C c.767G>C | ClinVar dbSNP |
2 | g.32136584G= | CA1242501154 | SPAST | c.*927G= (n.*927G=) c.1267G= (p.Val423=) c.1264G= (p.Val422=) c.1004G= c.1168G= (p.Val390=) c.1041G= c.1009G= (p.Val337=) c.426G= c.847G= c.1143G= c.913G= (p.Val305=) n.2004G= c.717G= c.593-525G= c.913G= c.1171G= (p.Val391=) n.959G= c.767G= | |
2 | g.32136584G>T | CA346502029 | SPAST | c.*927G>T (n.*927G>T) c.1267G>T (p.Val423Leu) c.1264G>T (p.Val422Leu) c.1004G>T c.1168G>T (p.Val390Leu) c.1041G>T c.1009G>T (p.Val337Leu) c.426G>T c.847G>T c.1143G>T c.913G>T (p.Val305Leu) n.2004G>T c.717G>T c.593-525G>T c.913G>T c.1171G>T (p.Val391Leu) n.959G>T c.767G>T | ClinVar dbSNP COSMIC |
2 | g.32136585T>A | CA346502031 | SPAST | c.*928T>A (n.*928T>A) c.1268T>A (p.Val423Glu) c.1265T>A (p.Val422Glu) c.1005T>A c.1169T>A (p.Val390Glu) c.1042T>A c.1010T>A (p.Val337Glu) c.427T>A c.848T>A c.1144T>A c.914T>A (p.Val305Glu) n.2005T>A c.718T>A c.593-524T>A c.914T>A c.1172T>A (p.Val391Glu) n.960T>A c.768T>A | |
2 | g.32136585T>C | CA346502033 | SPAST | c.*928T>C (n.*928T>C) c.1268T>C (p.Val423Ala) c.1265T>C (p.Val422Ala) c.1005T>C c.1169T>C (p.Val390Ala) c.1042T>C c.1010T>C (p.Val337Ala) c.427T>C c.848T>C c.1144T>C c.914T>C (p.Val305Ala) n.2005T>C c.718T>C c.593-524T>C c.914T>C c.1172T>C (p.Val391Ala) n.960T>C c.768T>C | |
2 | g.32136585T>G | CA346502032 | SPAST | c.*928T>G (n.*928T>G) c.1268T>G (p.Val423Gly) c.1265T>G (p.Val422Gly) c.1005T>G c.1169T>G (p.Val390Gly) c.1042T>G c.1010T>G (p.Val337Gly) c.427T>G c.848T>G c.1144T>G c.914T>G (p.Val305Gly) n.2005T>G c.718T>G c.593-524T>G c.914T>G c.1172T>G (p.Val391Gly) n.960T>G c.768T>G | ClinVar dbSNP |
2 | g.32136586G>A | CA425448366 | SPAST | c.*929G>A (n.*929G>A) c.1269G>A (p.Val423=) c.1266G>A (p.Val422=) c.1006G>A c.1170G>A (p.Val390=) c.1043G>A c.1011G>A (p.Val337=) c.428G>A c.849G>A c.1145G>A c.915G>A (p.Val305=) n.2006G>A c.719G>A c.593-523G>A c.915G>A c.1173G>A (p.Val391=) n.961G>A c.769G>A | |
2 | g.32136586G>C | CA425448367 | SPAST | c.*929G>C (n.*929G>C) c.1269G>C (p.Val423=) c.1266G>C (p.Val422=) c.1006G>C c.1170G>C (p.Val390=) c.1043G>C c.1011G>C (p.Val337=) c.428G>C c.849G>C c.1145G>C c.915G>C (p.Val305=) n.2006G>C c.719G>C c.593-523G>C c.915G>C c.1173G>C (p.Val391=) n.961G>C c.769G>C | |
2 | g.32136586G>T | CA425448369 | SPAST | c.*929G>T (n.*929G>T) c.1269G>T (p.Val423=) c.1266G>T (p.Val422=) c.1006G>T c.1170G>T (p.Val390=) c.1043G>T c.1011G>T (p.Val337=) c.428G>T c.849G>T c.1145G>T c.915G>T (p.Val305=) n.2006G>T c.719G>T c.593-523G>T c.915G>T c.1173G>T (p.Val391=) n.961G>T c.769G>T | |
2 | g.32136587_32136588dup | CA2586964740 | SPAST | c.*930_*931dup (n.*930_*931dup) c.1270_1271dup (p.Ala425GlyfsTer14) c.1267_1268dup (p.Ala424GlyfsTer14) c.1007_1008dup c.1171_1172dup (p.Ala392GlyfsTer14) c.1044_1045dup c.1012_1013dup (p.Ala339GlyfsTer14) c.429_430dup c.850_851dup c.1146_1147dup c.916_917dup (p.Ala307GlyfsTer14) n.2007_2008dup c.720_721dup c.593-522_593-521dup c.916_917dup c.1174_1175dup (p.Ala393GlyfsTer14) n.962_963dup c.770_771dup | |
2 | g.32136587A= | CA1242501159 | SPAST | c.*930A= (n.*930A=) c.1270A= (p.Arg424=) c.1267A= (p.Arg423=) c.1007A= c.1171A= (p.Arg391=) c.1044A= c.1012A= (p.Arg338=) c.429A= c.850A= c.1146A= c.916A= (p.Arg306=) n.2007A= c.720A= c.593-522A= c.916A= c.1174A= (p.Arg392=) n.962A= c.770A= | |
2 | g.32136587A>C | CA425448374 | SPAST | c.*930A>C (n.*930A>C) c.1270A>C (p.Arg424=) c.1267A>C (p.Arg423=) c.1007A>C c.1171A>C (p.Arg391=) c.1044A>C c.1012A>C (p.Arg338=) c.429A>C c.850A>C c.1146A>C c.916A>C (p.Arg306=) n.2007A>C c.720A>C c.593-522A>C c.916A>C c.1174A>C (p.Arg392=) n.962A>C c.770A>C | |
2 | g.32136587A>G | CA346502034 | SPAST | c.*930A>G (n.*930A>G) c.1270A>G (p.Arg424Gly) c.1267A>G (p.Arg423Gly) c.1007A>G c.1171A>G (p.Arg391Gly) c.1044A>G c.1012A>G (p.Arg338Gly) c.429A>G c.850A>G c.1146A>G c.916A>G (p.Arg306Gly) n.2007A>G c.720A>G c.593-522A>G c.916A>G c.1174A>G (p.Arg392Gly) n.962A>G c.770A>G | dbSNP |
2 | g.32136587A>T | CA346502035 | SPAST | c.*930A>T (n.*930A>T) c.1270A>T (p.Arg424Trp) c.1267A>T (p.Arg423Trp) c.1007A>T c.1171A>T (p.Arg391Trp) c.1044A>T c.1012A>T (p.Arg338Trp) c.429A>T c.850A>T c.1146A>T c.916A>T (p.Arg306Trp) n.2007A>T c.720A>T c.593-522A>T c.916A>T c.1174A>T (p.Arg392Trp) n.962A>T c.770A>T | |
2 | g.32136588G>A | CA346502036 | SPAST | c.*931G>A (n.*931G>A) c.1271G>A (p.Arg424Lys) c.1268G>A (p.Arg423Lys) c.1008G>A c.1172G>A (p.Arg391Lys) c.1045G>A c.1013G>A (p.Arg338Lys) c.430G>A c.851G>A c.1147G>A c.917G>A (p.Arg306Lys) n.2008G>A c.721G>A c.593-521G>A c.917G>A c.1175G>A (p.Arg392Lys) n.963G>A c.771G>A | gnomAD v4 |
2 | g.32136588G>C | CA346502037 | SPAST | c.*931G>C (n.*931G>C) c.1271G>C (p.Arg424Thr) c.1268G>C (p.Arg423Thr) c.1008G>C c.1172G>C (p.Arg391Thr) c.1045G>C c.1013G>C (p.Arg338Thr) c.430G>C c.851G>C c.1147G>C c.917G>C (p.Arg306Thr) n.2008G>C c.721G>C c.593-521G>C c.917G>C c.1175G>C (p.Arg392Thr) n.963G>C c.771G>C | ClinVar dbSNP |
2 | g.32136588G>T | CA346502038 | SPAST | c.*931G>T (n.*931G>T) c.1271G>T (p.Arg424Met) c.1268G>T (p.Arg423Met) c.1008G>T c.1172G>T (p.Arg391Met) c.1045G>T c.1013G>T (p.Arg338Met) c.430G>T c.851G>T c.1147G>T c.917G>T (p.Arg306Met) n.2008G>T c.721G>T c.593-521G>T c.917G>T c.1175G>T (p.Arg392Met) n.963G>T c.771G>T | |
2 | g.32136590del | CA2586964741 | SPAST | c.*933del (n.*933del) c.1273del (p.Ala425LeufsTer13) c.1270del (p.Ala424LeufsTer13) c.1010del c.1174del (p.Ala392LeufsTer13) c.1047del c.1015del (p.Ala339LeufsTer13) c.432del c.853del c.1149del c.919del (p.Ala307LeufsTer13) n.2010del c.723del c.593-519del c.919del c.1177del (p.Ala393LeufsTer13) n.965del c.773del | |
2 | g.32136589G>A | CA425448397 | SPAST | c.*932G>A (n.*932G>A) c.1272G>A (p.Arg424=) c.1269G>A (p.Arg423=) c.1009G>A c.1173G>A (p.Arg391=) c.1046G>A c.1014G>A (p.Arg338=) c.431G>A c.852G>A c.1148G>A c.918G>A (p.Arg306=) n.2009G>A c.722G>A c.593-520G>A c.918G>A c.1176G>A (p.Arg392=) n.964G>A c.772G>A | |
2 | g.32136589G>C | CA346502039 | SPAST | c.*932G>C (n.*932G>C) c.1272G>C (p.Arg424Ser) c.1269G>C (p.Arg423Ser) c.1009G>C c.1173G>C (p.Arg391Ser) c.1046G>C c.1014G>C (p.Arg338Ser) c.431G>C c.852G>C c.1148G>C c.918G>C (p.Arg306Ser) n.2009G>C c.722G>C c.593-520G>C c.918G>C c.1176G>C (p.Arg392Ser) n.964G>C c.772G>C | ClinVar |
2 | g.32136589G>T | CA346502040 | SPAST | c.*932G>T (n.*932G>T) c.1272G>T (p.Arg424Ser) c.1269G>T (p.Arg423Ser) c.1009G>T c.1173G>T (p.Arg391Ser) c.1046G>T c.1014G>T (p.Arg338Ser) c.431G>T c.852G>T c.1148G>T c.918G>T (p.Arg306Ser) n.2009G>T c.722G>T c.593-520G>T c.918G>T c.1176G>T (p.Arg392Ser) n.964G>T c.772G>T | |
2 | g.32136590G>A | CA346502041 | SPAST | c.*933G>A (n.*933G>A) c.1273G>A (p.Ala425Thr) c.1270G>A (p.Ala424Thr) c.1010G>A c.1174G>A (p.Ala392Thr) c.1047G>A c.1015G>A (p.Ala339Thr) c.432G>A c.853G>A c.1149G>A c.919G>A (p.Ala307Thr) n.2010G>A c.723G>A c.593-519G>A c.919G>A c.1177G>A (p.Ala393Thr) n.965G>A c.773G>A | gnomAD v4 COSMIC |
2 | g.32136590G>C | CA346502042 | SPAST | c.*933G>C (n.*933G>C) c.1273G>C (p.Ala425Pro) c.1270G>C (p.Ala424Pro) c.1010G>C c.1174G>C (p.Ala392Pro) c.1047G>C c.1015G>C (p.Ala339Pro) c.432G>C c.853G>C c.1149G>C c.919G>C (p.Ala307Pro) n.2010G>C c.723G>C c.593-519G>C c.919G>C c.1177G>C (p.Ala393Pro) n.965G>C c.773G>C | ClinVar |
2 | g.32136590G>T | CA346502043 | SPAST | c.*933G>T (n.*933G>T) c.1273G>T (p.Ala425Ser) c.1270G>T (p.Ala424Ser) c.1010G>T c.1174G>T (p.Ala392Ser) c.1047G>T c.1015G>T (p.Ala339Ser) c.432G>T c.853G>T c.1149G>T c.919G>T (p.Ala307Ser) n.2010G>T c.723G>T c.593-519G>T c.919G>T c.1177G>T (p.Ala393Ser) n.965G>T c.773G>T | |
2 | g.32136590_32136592delinsGCT | CA1242501162 | SPAST | c.*933_*935delinsGCT (n.*933_*935delinsGCT) c.1273_1275delinsGCT (p.Ala425=) c.1270_1272delinsGCT (p.Ala424=) c.1010_1012delinsGCT c.1174_1176delinsGCT (p.Ala392=) c.1047_1049delinsGCT c.1015_1017delinsGCT (p.Ala339=) c.432_434delinsGCT c.853_855delinsGCT c.1149_1151delinsGCT c.919_921delinsGCT (p.Ala307=) n.2010_2012delinsGCT c.723_725delinsGCT c.593-519_593-517delinsGCT c.919_921delinsGCT c.1177_1179delinsGCT (p.Ala393=) n.965_967delinsGCT c.773_775delinsGCT | |
2 | g.32136591C>A | CA346502044 | SPAST | c.*934C>A (n.*934C>A) c.1274C>A (p.Ala425Asp) c.1271C>A (p.Ala424Asp) c.1011C>A c.1175C>A (p.Ala392Asp) c.1048C>A c.1016C>A (p.Ala339Asp) c.433C>A c.854C>A c.1150C>A c.920C>A (p.Ala307Asp) n.2011C>A c.724C>A c.593-518C>A c.920C>A c.1178C>A (p.Ala393Asp) n.966C>A c.774C>A | |
2 | g.32136591C>G | CA346502045 | SPAST | c.*934C>G (n.*934C>G) c.1274C>G (p.Ala425Gly) c.1271C>G (p.Ala424Gly) c.1011C>G c.1175C>G (p.Ala392Gly) c.1048C>G c.1016C>G (p.Ala339Gly) c.433C>G c.854C>G c.1150C>G c.920C>G (p.Ala307Gly) n.2011C>G c.724C>G c.593-518C>G c.920C>G c.1178C>G (p.Ala393Gly) n.966C>G c.774C>G | |
2 | g.32136591C>T | CA346502046 | SPAST | c.*934C>T (n.*934C>T) c.1274C>T (p.Ala425Val) c.1271C>T (p.Ala424Val) c.1011C>T c.1175C>T (p.Ala392Val) c.1048C>T c.1016C>T (p.Ala339Val) c.433C>T c.854C>T c.1150C>T c.920C>T (p.Ala307Val) n.2011C>T c.724C>T c.593-518C>T c.920C>T c.1178C>T (p.Ala393Val) n.966C>T c.774C>T | |
2 | g.32136593_32136594del | CA1242501165 | SPAST | c.*936_*937del (n.*936_*937del) c.1276_1277del (p.Leu426PhefsTer16) c.1273_1274del (p.Leu425PhefsTer16) c.1013_1014del c.1177_1178del (p.Leu393PhefsTer16) c.1050_1051del c.1018_1019del (p.Leu340PhefsTer16) c.435_436del c.856_857del c.1152_1153del c.922_923del (p.Leu308PhefsTer16) n.2013_2014del c.726_727del c.593-516_593-515del c.922_923del c.1180_1181del (p.Leu394PhefsTer16) n.968_969del c.776_777del | ClinVar dbSNP |
2 | g.32136592T>A | CA425448418 | SPAST | c.*935T>A (n.*935T>A) c.1275T>A (p.Ala425=) c.1272T>A (p.Ala424=) c.1012T>A c.1176T>A (p.Ala392=) c.1049T>A c.1017T>A (p.Ala339=) c.434T>A c.855T>A c.1151T>A c.921T>A (p.Ala307=) n.2012T>A c.725T>A c.593-517T>A c.921T>A c.1179T>A (p.Ala393=) n.967T>A c.775T>A | |
2 | g.32136592T>C | CA425448414 | SPAST | c.*935T>C (n.*935T>C) c.1275T>C (p.Ala425=) c.1272T>C (p.Ala424=) c.1012T>C c.1176T>C (p.Ala392=) c.1049T>C c.1017T>C (p.Ala339=) c.434T>C c.855T>C c.1151T>C c.921T>C (p.Ala307=) n.2012T>C c.725T>C c.593-517T>C c.921T>C c.1179T>C (p.Ala393=) n.967T>C c.775T>C | |
2 | g.32136592T>G | CA1600858 | SPAST | c.*935T>G (n.*935T>G) c.1275T>G (p.Ala425=) c.1272T>G (p.Ala424=) c.1012T>G c.1176T>G (p.Ala392=) c.1049T>G c.1017T>G (p.Ala339=) c.434T>G c.855T>G c.1151T>G c.921T>G (p.Ala307=) n.2012T>G c.725T>G c.593-517T>G c.921T>G c.1179T>G (p.Ala393=) n.967T>G c.775T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32136592T= | CA1242501167 | SPAST | c.*935T= (n.*935T=) c.1275T= (p.Ala425=) c.1272T= (p.Ala424=) c.1012T= c.1176T= (p.Ala392=) c.1049T= c.1017T= (p.Ala339=) c.434T= c.855T= c.1151T= c.921T= (p.Ala307=) n.2012T= c.725T= c.593-517T= c.921T= c.1179T= (p.Ala393=) n.967T= c.775T= | |
2 | g.32136593C>A | CA346502048 | SPAST | c.*936C>A (n.*936C>A) c.1276C>A (p.Leu426Ile) c.1273C>A (p.Leu425Ile) c.1013C>A c.1177C>A (p.Leu393Ile) c.1050C>A c.1018C>A (p.Leu340Ile) c.435C>A c.856C>A c.1152C>A c.922C>A (p.Leu308Ile) n.2013C>A c.726C>A c.593-516C>A c.922C>A c.1180C>A (p.Leu394Ile) n.968C>A c.776C>A | |
2 | g.32136593C= | CA1242501179 | SPAST | c.*936C= (n.*936C=) c.1276C= (p.Leu426=) c.1273C= (p.Leu425=) c.1013C= c.1177C= (p.Leu393=) c.1050C= c.1018C= (p.Leu340=) c.435C= c.856C= c.1152C= c.922C= (p.Leu308=) n.2013C= c.726C= c.593-516C= c.922C= c.1180C= (p.Leu394=) n.968C= c.776C= | |
2 | g.32136593C>G | CA16610830 | SPAST | c.*936C>G (n.*936C>G) c.1276C>G (p.Leu426Val) c.1273C>G (p.Leu425Val) c.1013C>G c.1177C>G (p.Leu393Val) c.1050C>G c.1018C>G (p.Leu340Val) c.435C>G c.856C>G c.1152C>G c.922C>G (p.Leu308Val) n.2013C>G c.726C>G c.593-516C>G c.922C>G c.1180C>G (p.Leu394Val) n.968C>G c.776C>G | ClinVar dbSNP COSMIC |
2 | g.32136593C>T | CA346502047 | SPAST | c.*936C>T (n.*936C>T) c.1276C>T (p.Leu426Phe) c.1273C>T (p.Leu425Phe) c.1013C>T c.1177C>T (p.Leu393Phe) c.1050C>T c.1018C>T (p.Leu340Phe) c.435C>T c.856C>T c.1152C>T c.922C>T (p.Leu308Phe) n.2013C>T c.726C>T c.593-516C>T c.922C>T c.1180C>T (p.Leu394Phe) n.968C>T c.776C>T | ClinVar dbSNP |
2 | g.32136594T>A | CA346502049 | SPAST | c.*937T>A (n.*937T>A) c.1277T>A (p.Leu426His) c.1274T>A (p.Leu425His) c.1014T>A c.1178T>A (p.Leu393His) c.1051T>A c.1019T>A (p.Leu340His) c.436T>A c.857T>A c.1153T>A c.923T>A (p.Leu308His) n.2014T>A c.727T>A c.593-515T>A c.923T>A c.1181T>A (p.Leu394His) n.969T>A c.777T>A | |
2 | g.32136594T>C | CA346502050 | SPAST | c.*937T>C (n.*937T>C) c.1277T>C (p.Leu426Pro) c.1274T>C (p.Leu425Pro) c.1014T>C c.1178T>C (p.Leu393Pro) c.1051T>C c.1019T>C (p.Leu340Pro) c.436T>C c.857T>C c.1153T>C c.923T>C (p.Leu308Pro) n.2014T>C c.727T>C c.593-515T>C c.923T>C c.1181T>C (p.Leu394Pro) n.969T>C c.777T>C | |
2 | g.32136594T>G | CA346502051 | SPAST | c.*937T>G (n.*937T>G) c.1277T>G (p.Leu426Arg) c.1274T>G (p.Leu425Arg) c.1014T>G c.1178T>G (p.Leu393Arg) c.1051T>G c.1019T>G (p.Leu340Arg) c.436T>G c.857T>G c.1153T>G c.923T>G (p.Leu308Arg) n.2014T>G c.727T>G c.593-515T>G c.923T>G c.1181T>G (p.Leu394Arg) n.969T>G c.777T>G | |
2 | g.32136598dup | CA2586964742 | SPAST | c.*941dup (n.*941dup) c.1281dup (p.Ala428CysfsTer15) c.1278dup (p.Ala427CysfsTer15) c.1018dup c.1182dup (p.Ala395CysfsTer15) c.1055dup c.1023dup (p.Ala342CysfsTer15) c.440dup c.861dup c.1157dup c.927dup (p.Ala310CysfsTer15) n.2018dup c.731dup c.593-511dup c.927dup c.1185dup (p.Ala396CysfsTer15) n.973dup c.781dup | |
2 | g.32136598del | CA658653590 | SPAST | c.*941del (n.*941del) c.1281del (p.Phe427LeufsTer11) c.1278del (p.Phe426LeufsTer11) c.1018del c.1182del (p.Phe394LeufsTer11) c.1055del c.1023del (p.Phe341LeufsTer11) c.440del c.861del c.1157del c.927del (p.Phe309LeufsTer11) n.2018del c.731del c.593-511del c.927del c.1185del (p.Phe395LeufsTer11) n.973del c.781del | |
2 | g.32136595T>A | CA425448429 | SPAST | c.*938T>A (n.*938T>A) c.1278T>A (p.Leu426=) c.1275T>A (p.Leu425=) c.1015T>A c.1179T>A (p.Leu393=) c.1052T>A c.1020T>A (p.Leu340=) c.437T>A c.858T>A c.1154T>A c.924T>A (p.Leu308=) n.2015T>A c.728T>A c.593-514T>A c.924T>A c.1182T>A (p.Leu394=) n.970T>A c.778T>A | |
2 | g.32136595T>C | CA425448434 | SPAST | c.*938T>C (n.*938T>C) c.1278T>C (p.Leu426=) c.1275T>C (p.Leu425=) c.1015T>C c.1179T>C (p.Leu393=) c.1052T>C c.1020T>C (p.Leu340=) c.437T>C c.858T>C c.1154T>C c.924T>C (p.Leu308=) n.2015T>C c.728T>C c.593-514T>C c.924T>C c.1182T>C (p.Leu394=) n.970T>C c.778T>C | |
2 | g.32136595T>G | CA425448432 | SPAST | c.*938T>G (n.*938T>G) c.1278T>G (p.Leu426=) c.1275T>G (p.Leu425=) c.1015T>G c.1179T>G (p.Leu393=) c.1052T>G c.1020T>G (p.Leu340=) c.437T>G c.858T>G c.1154T>G c.924T>G (p.Leu308=) n.2015T>G c.728T>G c.593-514T>G c.924T>G c.1182T>G (p.Leu394=) n.970T>G c.778T>G | |
2 | g.32136596T>A | CA346502052 | SPAST | c.*939T>A (n.*939T>A) c.1279T>A (p.Phe427Ile) c.1276T>A (p.Phe426Ile) c.1016T>A c.1180T>A (p.Phe394Ile) c.1053T>A c.1021T>A (p.Phe341Ile) c.438T>A c.859T>A c.1155T>A c.925T>A (p.Phe309Ile) n.2016T>A c.729T>A c.593-513T>A c.925T>A c.1183T>A (p.Phe395Ile) n.971T>A c.779T>A | |
2 | g.32136596T>C | CA346502053 | SPAST | c.*939T>C (n.*939T>C) c.1279T>C (p.Phe427Leu) c.1276T>C (p.Phe426Leu) c.1016T>C c.1180T>C (p.Phe394Leu) c.1053T>C c.1021T>C (p.Phe341Leu) c.438T>C c.859T>C c.1155T>C c.925T>C (p.Phe309Leu) n.2016T>C c.729T>C c.593-513T>C c.925T>C c.1183T>C (p.Phe395Leu) n.971T>C c.779T>C | |
2 | g.32136596T>G | CA346502054 | SPAST | c.*939T>G (n.*939T>G) c.1279T>G (p.Phe427Val) c.1276T>G (p.Phe426Val) c.1016T>G c.1180T>G (p.Phe394Val) c.1053T>G c.1021T>G (p.Phe341Val) c.438T>G c.859T>G c.1155T>G c.925T>G (p.Phe309Val) n.2016T>G c.729T>G c.593-513T>G c.925T>G c.1183T>G (p.Phe395Val) n.971T>G c.779T>G | |
2 | g.32136597T>A | CA346502055 | SPAST | c.*940T>A (n.*940T>A) c.1280T>A (p.Phe427Tyr) c.1277T>A (p.Phe426Tyr) c.1017T>A c.1181T>A (p.Phe394Tyr) c.1054T>A c.1022T>A (p.Phe341Tyr) c.439T>A c.860T>A c.1156T>A c.926T>A (p.Phe309Tyr) n.2017T>A c.730T>A c.593-512T>A c.926T>A c.1184T>A (p.Phe395Tyr) n.972T>A c.780T>A | |
2 | g.32136597T>C | CA346502056 | SPAST | c.*940T>C (n.*940T>C) c.1280T>C (p.Phe427Ser) c.1277T>C (p.Phe426Ser) c.1017T>C c.1181T>C (p.Phe394Ser) c.1054T>C c.1022T>C (p.Phe341Ser) c.439T>C c.860T>C c.1156T>C c.926T>C (p.Phe309Ser) n.2017T>C c.730T>C c.593-512T>C c.926T>C c.1184T>C (p.Phe395Ser) n.972T>C c.780T>C | |
2 | g.32136597T>G | CA346502057 | SPAST | c.*940T>G (n.*940T>G) c.1280T>G (p.Phe427Cys) c.1277T>G (p.Phe426Cys) c.1017T>G c.1181T>G (p.Phe394Cys) c.1054T>G c.1022T>G (p.Phe341Cys) c.439T>G c.860T>G c.1156T>G c.926T>G (p.Phe309Cys) n.2017T>G c.730T>G c.593-512T>G c.926T>G c.1184T>G (p.Phe395Cys) n.972T>G c.780T>G | dbSNP |
2 | g.32136597T= | CA1242501187 | SPAST | c.*940T= (n.*940T=) c.1280T= (p.Phe427=) c.1277T= (p.Phe426=) c.1017T= c.1181T= (p.Phe394=) c.1054T= c.1022T= (p.Phe341=) c.439T= c.860T= c.1156T= c.926T= (p.Phe309=) n.2017T= c.730T= c.593-512T= c.926T= c.1184T= (p.Phe395=) n.972T= c.780T= | |
2 | g.32136598T>A | CA346502058 | SPAST | c.*941T>A (n.*941T>A) c.1281T>A (p.Phe427Leu) c.1278T>A (p.Phe426Leu) c.1018T>A c.1182T>A (p.Phe394Leu) c.1055T>A c.1023T>A (p.Phe341Leu) c.440T>A c.861T>A c.1157T>A c.927T>A (p.Phe309Leu) n.2018T>A c.731T>A c.593-511T>A c.927T>A c.1185T>A (p.Phe395Leu) n.973T>A c.781T>A | |
2 | g.32136598T>C | CA425448447 | SPAST | c.*941T>C (n.*941T>C) c.1281T>C (p.Phe427=) c.1278T>C (p.Phe426=) c.1018T>C c.1182T>C (p.Phe394=) c.1055T>C c.1023T>C (p.Phe341=) c.440T>C c.861T>C c.1157T>C c.927T>C (p.Phe309=) n.2018T>C c.731T>C c.593-511T>C c.927T>C c.1185T>C (p.Phe395=) n.973T>C c.781T>C | |
2 | g.32136598T>G | CA346502059 | SPAST | c.*941T>G (n.*941T>G) c.1281T>G (p.Phe427Leu) c.1278T>G (p.Phe426Leu) c.1018T>G c.1182T>G (p.Phe394Leu) c.1055T>G c.1023T>G (p.Phe341Leu) c.440T>G c.861T>G c.1157T>G c.927T>G (p.Phe309Leu) n.2018T>G c.731T>G c.593-511T>G c.927T>G c.1185T>G (p.Phe395Leu) n.973T>G c.781T>G | ClinVar |
2 | g.32136599del | CA2586964744 | SPAST | c.*942del (n.*942del) c.1282del (p.Ala428LeufsTer10) c.1279del (p.Ala427LeufsTer10) c.1019del c.1183del (p.Ala395LeufsTer10) c.1056del c.1024del (p.Ala342LeufsTer10) c.441del c.862del c.1158del c.928del (p.Ala310LeufsTer10) n.2019del c.732del c.593-510del c.928del c.1186del (p.Ala396LeufsTer10) n.974del c.782del | |
2 | g.32136599G>A | CA346502062 | SPAST | c.*942G>A (n.*942G>A) c.1282G>A (p.Ala428Thr) c.1279G>A (p.Ala427Thr) c.1019G>A c.1183G>A (p.Ala395Thr) c.1056G>A c.1024G>A (p.Ala342Thr) c.441G>A c.862G>A c.1158G>A c.928G>A (p.Ala310Thr) n.2019G>A c.732G>A c.593-510G>A c.928G>A c.1186G>A (p.Ala396Thr) n.974G>A c.782G>A | |
2 | g.32136599G>C | CA346502061 | SPAST | c.*942G>C (n.*942G>C) c.1282G>C (p.Ala428Pro) c.1279G>C (p.Ala427Pro) c.1019G>C c.1183G>C (p.Ala395Pro) c.1056G>C c.1024G>C (p.Ala342Pro) c.441G>C c.862G>C c.1158G>C c.928G>C (p.Ala310Pro) n.2019G>C c.732G>C c.593-510G>C c.928G>C c.1186G>C (p.Ala396Pro) n.974G>C c.782G>C | |
2 | g.32136599G>T | CA346502060 | SPAST | c.*942G>T (n.*942G>T) c.1282G>T (p.Ala428Ser) c.1279G>T (p.Ala427Ser) c.1019G>T c.1183G>T (p.Ala395Ser) c.1056G>T c.1024G>T (p.Ala342Ser) c.441G>T c.862G>T c.1158G>T c.928G>T (p.Ala310Ser) n.2019G>T c.732G>T c.593-510G>T c.928G>T c.1186G>T (p.Ala396Ser) n.974G>T c.782G>T | |
2 | g.32136600C>A | CA346502065 | SPAST | c.*943C>A (n.*943C>A) c.1283C>A (p.Ala428Asp) c.1280C>A (p.Ala427Asp) c.1020C>A c.1184C>A (p.Ala395Asp) c.1057C>A c.1025C>A (p.Ala342Asp) c.442C>A c.863C>A c.1159C>A c.929C>A (p.Ala310Asp) n.2020C>A c.733C>A c.593-509C>A c.929C>A c.1187C>A (p.Ala396Asp) n.975C>A c.783C>A | COSMIC |
2 | g.32136600C= | CA1242501194 | SPAST | c.*943C= (n.*943C=) c.1283C= (p.Ala428=) c.1280C= (p.Ala427=) c.1020C= c.1184C= (p.Ala395=) c.1057C= c.1025C= (p.Ala342=) c.442C= c.863C= c.1159C= c.929C= (p.Ala310=) n.2020C= c.733C= c.593-509C= c.929C= c.1187C= (p.Ala396=) n.975C= c.783C= | |
2 | g.32136600C>G | CA346502063 | SPAST | c.*943C>G (n.*943C>G) c.1283C>G (p.Ala428Gly) c.1280C>G (p.Ala427Gly) c.1020C>G c.1184C>G (p.Ala395Gly) c.1057C>G c.1025C>G (p.Ala342Gly) c.442C>G c.863C>G c.1159C>G c.929C>G (p.Ala310Gly) n.2020C>G c.733C>G c.593-509C>G c.929C>G c.1187C>G (p.Ala396Gly) n.975C>G c.783C>G | |
2 | g.32136600C>T | CA346502064 | SPAST | c.*943C>T (n.*943C>T) c.1283C>T (p.Ala428Val) c.1280C>T (p.Ala427Val) c.1020C>T c.1184C>T (p.Ala395Val) c.1057C>T c.1025C>T (p.Ala342Val) c.442C>T c.863C>T c.1159C>T c.929C>T (p.Ala310Val) n.2020C>T c.733C>T c.593-509C>T c.929C>T c.1187C>T (p.Ala396Val) n.975C>T c.783C>T | COSMIC |
2 | g.32136601T>A | CA425448466 | SPAST | c.*944T>A (n.*944T>A) c.1284T>A (p.Ala428=) c.1281T>A (p.Ala427=) c.1021T>A c.1185T>A (p.Ala395=) c.1058T>A c.1026T>A (p.Ala342=) c.443T>A c.864T>A c.1160T>A c.930T>A (p.Ala310=) n.2021T>A c.734T>A c.593-508T>A c.930T>A c.1188T>A (p.Ala396=) n.976T>A c.784T>A | |
2 | g.32136601T>C | CA425448468 | SPAST | c.*944T>C (n.*944T>C) c.1284T>C (p.Ala428=) c.1281T>C (p.Ala427=) c.1021T>C c.1185T>C (p.Ala395=) c.1058T>C c.1026T>C (p.Ala342=) c.443T>C c.864T>C c.1160T>C c.930T>C (p.Ala310=) n.2021T>C c.734T>C c.593-508T>C c.930T>C c.1188T>C (p.Ala396=) n.976T>C c.784T>C | |
2 | g.32136601T>G | CA425448470 | SPAST | c.*944T>G (n.*944T>G) c.1284T>G (p.Ala428=) c.1281T>G (p.Ala427=) c.1021T>G c.1185T>G (p.Ala395=) c.1058T>G c.1026T>G (p.Ala342=) c.443T>G c.864T>G c.1160T>G c.930T>G (p.Ala310=) n.2021T>G c.734T>G c.593-508T>G c.930T>G c.1188T>G (p.Ala396=) n.976T>G c.784T>G | |
2 | g.32136603_32136604dup | CA658657024 | SPAST | c.*946_*947dup (n.*946_*947dup) c.1286_1287dup (p.Ala430TrpfsTer9) c.1283_1284dup (p.Ala429TrpfsTer9) c.1023_1024dup c.1187_1188dup (p.Ala397TrpfsTer9) c.1060_1061dup c.1028_1029dup (p.Ala344TrpfsTer9) c.445_446dup c.866_867dup c.1162_1163dup c.932_933dup (p.Ala312TrpfsTer9) n.2023_2024dup c.736_737dup c.593-506_593-505dup c.932_933dup c.1190_1191dup (p.Ala398TrpfsTer9) n.978_979dup c.786_787dup | ClinVar dbSNP |
2 | g.32136602del | CA2586964745 | SPAST | c.*945del (n.*945del) c.1285del (p.Val429TrpfsTer9) c.1282del (p.Val428TrpfsTer9) c.1022del c.1186del (p.Val396TrpfsTer9) c.1059del c.1027del (p.Val343TrpfsTer9) c.444del c.865del c.1161del c.931del (p.Val311TrpfsTer9) n.2022del c.735del c.593-507del c.931del c.1189del (p.Val397TrpfsTer9) n.977del c.785del | |
2 | g.32136602G>A | CA346502066 | SPAST | c.*945G>A (n.*945G>A) c.1285G>A (p.Val429Met) c.1282G>A (p.Val428Met) c.1022G>A c.1186G>A (p.Val396Met) c.1059G>A c.1027G>A (p.Val343Met) c.444G>A c.865G>A c.1161G>A c.931G>A (p.Val311Met) n.2022G>A c.735G>A c.593-507G>A c.931G>A c.1189G>A (p.Val397Met) n.977G>A c.785G>A | gnomAD v4 |
2 | g.32136602G>C | CA346502067 | SPAST | c.*945G>C (n.*945G>C) c.1285G>C (p.Val429Leu) c.1282G>C (p.Val428Leu) c.1022G>C c.1186G>C (p.Val396Leu) c.1059G>C c.1027G>C (p.Val343Leu) c.444G>C c.865G>C c.1161G>C c.931G>C (p.Val311Leu) n.2022G>C c.735G>C c.593-507G>C c.931G>C c.1189G>C (p.Val397Leu) n.977G>C c.785G>C | |
2 | g.32136602G>T | CA346502068 | SPAST | c.*945G>T (n.*945G>T) c.1285G>T (p.Val429Leu) c.1282G>T (p.Val428Leu) c.1022G>T c.1186G>T (p.Val396Leu) c.1059G>T c.1027G>T (p.Val343Leu) c.444G>T c.865G>T c.1161G>T c.931G>T (p.Val311Leu) n.2022G>T c.735G>T c.593-507G>T c.931G>T c.1189G>T (p.Val397Leu) n.977G>T c.785G>T | gnomAD v4 |
2 | g.32136603T>A | CA346502069 | SPAST | c.*946T>A (n.*946T>A) c.1286T>A (p.Val429Glu) c.1283T>A (p.Val428Glu) c.1023T>A c.1187T>A (p.Val396Glu) c.1060T>A c.1028T>A (p.Val343Glu) c.445T>A c.866T>A c.1162T>A c.932T>A (p.Val311Glu) n.2023T>A c.736T>A c.593-506T>A c.932T>A c.1190T>A (p.Val397Glu) n.978T>A c.786T>A | |
2 | g.32136603T>C | CA346502070 | SPAST | c.*946T>C (n.*946T>C) c.1286T>C (p.Val429Ala) c.1283T>C (p.Val428Ala) c.1023T>C c.1187T>C (p.Val396Ala) c.1060T>C c.1028T>C (p.Val343Ala) c.445T>C c.866T>C c.1162T>C c.932T>C (p.Val311Ala) n.2023T>C c.736T>C c.593-506T>C c.932T>C c.1190T>C (p.Val397Ala) n.978T>C c.786T>C | |
2 | g.32136603T>G | CA346502071 | SPAST | c.*946T>G (n.*946T>G) c.1286T>G (p.Val429Gly) c.1283T>G (p.Val428Gly) c.1023T>G c.1187T>G (p.Val396Gly) c.1060T>G c.1028T>G (p.Val343Gly) c.445T>G c.866T>G c.1162T>G c.932T>G (p.Val311Gly) n.2023T>G c.736T>G c.593-506T>G c.932T>G c.1190T>G (p.Val397Gly) n.978T>G c.786T>G | |
2 | g.32136604G>A | CA425448485 | SPAST | c.*947G>A (n.*947G>A) c.1287G>A (p.Val429=) c.1284G>A (p.Val428=) c.1024G>A c.1188G>A (p.Val396=) c.1061G>A c.1029G>A (p.Val343=) c.446G>A c.867G>A c.1163G>A c.933G>A (p.Val311=) n.2024G>A c.737G>A c.593-505G>A c.933G>A c.1191G>A (p.Val397=) n.979G>A c.787G>A | |
2 | g.32136604G>C | CA425448487 | SPAST | c.*947G>C (n.*947G>C) c.1287G>C (p.Val429=) c.1284G>C (p.Val428=) c.1024G>C c.1188G>C (p.Val396=) c.1061G>C c.1029G>C (p.Val343=) c.446G>C c.867G>C c.1163G>C c.933G>C (p.Val311=) n.2024G>C c.737G>C c.593-505G>C c.933G>C c.1191G>C (p.Val397=) n.979G>C c.787G>C | |
2 | g.32136604G>T | CA425448489 | SPAST | c.*947G>T (n.*947G>T) c.1287G>T (p.Val429=) c.1284G>T (p.Val428=) c.1024G>T c.1188G>T (p.Val396=) c.1061G>T c.1029G>T (p.Val343=) c.446G>T c.867G>T c.1163G>T c.933G>T (p.Val311=) n.2024G>T c.737G>T c.593-505G>T c.933G>T c.1191G>T (p.Val397=) n.979G>T c.787G>T | |
2 | g.32136605dup | CA2586964746 | SPAST | c.*948dup (n.*948dup) c.1288dup (p.Ala430GlyfsTer13) c.1285dup (p.Ala429GlyfsTer13) c.1025dup c.1189dup (p.Ala397GlyfsTer13) c.1062dup c.1030dup (p.Ala344GlyfsTer13) c.447dup c.868dup c.1164dup c.934dup (p.Ala312GlyfsTer13) n.2025dup c.738dup c.593-504dup c.934dup c.1192dup (p.Ala398GlyfsTer13) n.980dup c.788dup | |
2 | g.32136605G>A | CA346502072 | SPAST | c.*948G>A (n.*948G>A) c.1288G>A (p.Ala430Thr) c.1285G>A (p.Ala429Thr) c.1025G>A c.1189G>A (p.Ala397Thr) c.1062G>A c.1030G>A (p.Ala344Thr) c.447G>A c.868G>A c.1164G>A c.934G>A (p.Ala312Thr) n.2025G>A c.738G>A c.593-504G>A c.934G>A c.1192G>A (p.Ala398Thr) n.980G>A c.788G>A | gnomAD v4 |
2 | g.32136605G>C | CA346502073 | SPAST | c.*948G>C (n.*948G>C) c.1288G>C (p.Ala430Pro) c.1285G>C (p.Ala429Pro) c.1025G>C c.1189G>C (p.Ala397Pro) c.1062G>C c.1030G>C (p.Ala344Pro) c.447G>C c.868G>C c.1164G>C c.934G>C (p.Ala312Pro) n.2025G>C c.738G>C c.593-504G>C c.934G>C c.1192G>C (p.Ala398Pro) n.980G>C c.788G>C | |
2 | g.32136605G>T | CA346502074 | SPAST | c.*948G>T (n.*948G>T) c.1288G>T (p.Ala430Ser) c.1285G>T (p.Ala429Ser) c.1025G>T c.1189G>T (p.Ala397Ser) c.1062G>T c.1030G>T (p.Ala344Ser) c.447G>T c.868G>T c.1164G>T c.934G>T (p.Ala312Ser) n.2025G>T c.738G>T c.593-504G>T c.934G>T c.1192G>T (p.Ala398Ser) n.980G>T c.788G>T | gnomAD v4 |
2 | g.32136606C>A | CA346502075 | SPAST | c.*949C>A (n.*949C>A) c.1289C>A (p.Ala430Asp) c.1286C>A (p.Ala429Asp) c.1026C>A c.1190C>A (p.Ala397Asp) c.1063C>A c.1031C>A (p.Ala344Asp) c.448C>A c.869C>A c.1165C>A c.935C>A (p.Ala312Asp) n.2026C>A c.739C>A c.593-503C>A c.935C>A c.1193C>A (p.Ala398Asp) n.981C>A c.789C>A | |
2 | g.32136606C>G | CA346502076 | SPAST | c.*949C>G (n.*949C>G) c.1289C>G (p.Ala430Gly) c.1286C>G (p.Ala429Gly) c.1026C>G c.1190C>G (p.Ala397Gly) c.1063C>G c.1031C>G (p.Ala344Gly) c.448C>G c.869C>G c.1165C>G c.935C>G (p.Ala312Gly) n.2026C>G c.739C>G c.593-503C>G c.935C>G c.1193C>G (p.Ala398Gly) n.981C>G c.789C>G | |
2 | g.32136606C>T | CA346502077 | SPAST | c.*949C>T (n.*949C>T) c.1289C>T (p.Ala430Val) c.1286C>T (p.Ala429Val) c.1026C>T c.1190C>T (p.Ala397Val) c.1063C>T c.1031C>T (p.Ala344Val) c.448C>T c.869C>T c.1165C>T c.935C>T (p.Ala312Val) n.2026C>T c.739C>T c.593-503C>T c.935C>T c.1193C>T (p.Ala398Val) n.981C>T c.789C>T | |
2 | g.32136607T>A | CA425448516 | SPAST | c.*950T>A (n.*950T>A) c.1290T>A (p.Ala430=) c.1287T>A (p.Ala429=) c.1027T>A c.1191T>A (p.Ala397=) c.1064T>A c.1032T>A (p.Ala344=) c.449T>A c.870T>A c.1166T>A c.936T>A (p.Ala312=) n.2027T>A c.740T>A c.593-502T>A c.936T>A c.1194T>A (p.Ala398=) n.982T>A c.790T>A | |
2 | g.32136607T>C | CA425448517 | SPAST | c.*950T>C (n.*950T>C) c.1290T>C (p.Ala430=) c.1287T>C (p.Ala429=) c.1027T>C c.1191T>C (p.Ala397=) c.1064T>C c.1032T>C (p.Ala344=) c.449T>C c.870T>C c.1166T>C c.936T>C (p.Ala312=) n.2027T>C c.740T>C c.593-502T>C c.936T>C c.1194T>C (p.Ala398=) n.982T>C c.790T>C | |
2 | g.32136607T>G | CA425448522 | SPAST | c.*950T>G (n.*950T>G) c.1290T>G (p.Ala430=) c.1287T>G (p.Ala429=) c.1027T>G c.1191T>G (p.Ala397=) c.1064T>G c.1032T>G (p.Ala344=) c.449T>G c.870T>G c.1166T>G c.936T>G (p.Ala312=) n.2027T>G c.740T>G c.593-502T>G c.936T>G c.1194T>G (p.Ala398=) n.982T>G c.790T>G | |
2 | g.32136607T= | CA1242501203 | SPAST | c.*950T= (n.*950T=) c.1290T= (p.Ala430=) c.1287T= (p.Ala429=) c.1027T= c.1191T= (p.Ala397=) c.1064T= c.1032T= (p.Ala344=) c.449T= c.870T= c.1166T= c.936T= (p.Ala312=) n.2027T= c.740T= c.593-502T= c.936T= c.1194T= (p.Ala398=) n.982T= c.790T= | |
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.32136608_32136609del | CA2838517151 | SPAST | c.*951_*952del (n.*951_*952del) c.1291_1292del (p.Glu432ThrfsTer10) c.1288_1289del (p.Glu431ThrfsTer10) c.1028_1029del c.1192_1193del (p.Glu399ThrfsTer10) c.1065_1066del c.1033_1034del (p.Glu346ThrfsTer10) c.450_451del c.871_872del c.1167_1168del c.937_938del (p.Glu314ThrfsTer10) n.2028_2029del c.741_742del c.593-501_593-500del c.937_938del c.1195_1196del (p.Glu400ThrfsTer10) n.983_984del c.791_792del | |
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= | |
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 | |
2 | g.32136632T>C | CA346502128 | SPAST | c.*975T>C (n.*975T>C) c.1315T>C (p.Phe439Leu) c.1312T>C (p.Phe438Leu) c.1052T>C c.1216T>C (p.Phe406Leu) c.1089T>C c.1057T>C (p.Phe353Leu) c.474T>C c.895T>C c.1191T>C c.961T>C (p.Phe321Leu) n.2052T>C c.765T>C c.593-477T>C c.961T>C c.1219T>C (p.Phe407Leu) n.1007T>C c.815T>C | |
2 | g.32136632T>G | CA346502129 | SPAST | c.*975T>G (n.*975T>G) c.1315T>G (p.Phe439Val) c.1312T>G (p.Phe438Val) c.1052T>G c.1216T>G (p.Phe406Val) c.1089T>G c.1057T>G (p.Phe353Val) c.474T>G c.895T>G c.1191T>G c.961T>G (p.Phe321Val) n.2052T>G c.765T>G c.593-477T>G c.961T>G c.1219T>G (p.Phe407Val) n.1007T>G c.815T>G | |
2 | g.32136633T>A | CA346502130 | SPAST | c.*976T>A (n.*976T>A) c.1316T>A (p.Phe439Tyr) c.1313T>A (p.Phe438Tyr) c.1053T>A c.1217T>A (p.Phe406Tyr) c.1090T>A c.1058T>A (p.Phe353Tyr) c.475T>A c.896T>A c.1192T>A c.962T>A (p.Phe321Tyr) n.2053T>A c.766T>A c.593-476T>A c.962T>A c.1220T>A (p.Phe407Tyr) n.1008T>A c.816T>A | |
2 | g.32136633T>C | CA346502131 | SPAST | c.*976T>C (n.*976T>C) c.1316T>C (p.Phe439Ser) c.1313T>C (p.Phe438Ser) c.1053T>C c.1217T>C (p.Phe406Ser) c.1090T>C c.1058T>C (p.Phe353Ser) c.475T>C c.896T>C c.1192T>C c.962T>C (p.Phe321Ser) n.2053T>C c.766T>C c.593-476T>C c.962T>C c.1220T>C (p.Phe407Ser) n.1008T>C c.816T>C | |
2 | g.32136633T>G | CA346502132 | SPAST | c.*976T>G (n.*976T>G) c.1316T>G (p.Phe439Cys) c.1313T>G (p.Phe438Cys) c.1053T>G c.1217T>G (p.Phe406Cys) c.1090T>G c.1058T>G (p.Phe353Cys) c.475T>G c.896T>G c.1192T>G c.962T>G (p.Phe321Cys) n.2053T>G c.766T>G c.593-476T>G c.962T>G c.1220T>G (p.Phe407Cys) n.1008T>G c.816T>G | |
2 | g.32136634T>A | CA346502134 | SPAST | c.*977T>A (n.*977T>A) c.1317T>A (p.Phe439Leu) c.1314T>A (p.Phe438Leu) c.1054T>A c.1218T>A (p.Phe406Leu) c.1091T>A c.1059T>A (p.Phe353Leu) c.476T>A c.897T>A c.1193T>A c.963T>A (p.Phe321Leu) n.2054T>A c.767T>A c.593-475T>A c.963T>A c.1221T>A (p.Phe407Leu) n.1009T>A c.817T>A | |
2 | g.32136634T>C | CA425448698 | SPAST | c.*977T>C (n.*977T>C) c.1317T>C (p.Phe439=) c.1314T>C (p.Phe438=) c.1054T>C c.1218T>C (p.Phe406=) c.1091T>C c.1059T>C (p.Phe353=) c.476T>C c.897T>C c.1193T>C c.963T>C (p.Phe321=) n.2054T>C c.767T>C c.593-475T>C c.963T>C c.1221T>C (p.Phe407=) n.1009T>C c.817T>C | |
2 | g.32136634T>G | CA346502133 | SPAST | c.*977T>G (n.*977T>G) c.1317T>G (p.Phe439Leu) c.1314T>G (p.Phe438Leu) c.1054T>G c.1218T>G (p.Phe406Leu) c.1091T>G c.1059T>G (p.Phe353Leu) c.476T>G c.897T>G c.1193T>G c.963T>G (p.Phe321Leu) n.2054T>G c.767T>G c.593-475T>G c.963T>G c.1221T>G (p.Phe407Leu) n.1009T>G c.817T>G | |
2 | g.32136635A>C | CA346502135 | SPAST | c.*978A>C (n.*978A>C) c.1318A>C (p.Ile440Leu) c.1315A>C (p.Ile439Leu) c.1055A>C c.1219A>C (p.Ile407Leu) c.1092A>C c.1060A>C (p.Ile354Leu) c.477A>C c.898A>C c.1194A>C c.964A>C (p.Ile322Leu) n.2055A>C c.768A>C c.593-474A>C c.964A>C c.1222A>C (p.Ile408Leu) n.1010A>C c.818A>C | |
2 | g.32136635A>G | CA346502136 | SPAST | c.*978A>G (n.*978A>G) c.1318A>G (p.Ile440Val) c.1315A>G (p.Ile439Val) c.1055A>G c.1219A>G (p.Ile407Val) c.1092A>G c.1060A>G (p.Ile354Val) c.477A>G c.898A>G c.1194A>G c.964A>G (p.Ile322Val) n.2055A>G c.768A>G c.593-474A>G c.964A>G c.1222A>G (p.Ile408Val) n.1010A>G c.818A>G | gnomAD v4 |
2 | g.32136635A>T | CA346502137 | SPAST | c.*978A>T (n.*978A>T) c.1318A>T (p.Ile440Leu) c.1315A>T (p.Ile439Leu) c.1055A>T c.1219A>T (p.Ile407Leu) c.1092A>T c.1060A>T (p.Ile354Leu) c.477A>T c.898A>T c.1194A>T c.964A>T (p.Ile322Leu) n.2055A>T c.768A>T c.593-474A>T c.964A>T c.1222A>T (p.Ile408Leu) n.1010A>T c.818A>T | |
2 | g.32136636T>A | CA346502138 | SPAST | c.*979T>A (n.*979T>A) c.1319T>A (p.Ile440Lys) c.1316T>A (p.Ile439Lys) c.1056T>A c.1220T>A (p.Ile407Lys) c.1093T>A c.1061T>A (p.Ile354Lys) c.478T>A c.899T>A c.1195T>A c.965T>A (p.Ile322Lys) n.2056T>A c.769T>A c.593-473T>A c.965T>A c.1223T>A (p.Ile408Lys) n.1011T>A c.819T>A | |
2 | g.32136636T>C | CA346502139 | SPAST | c.*979T>C (n.*979T>C) c.1319T>C (p.Ile440Thr) c.1316T>C (p.Ile439Thr) c.1056T>C c.1220T>C (p.Ile407Thr) c.1093T>C c.1061T>C (p.Ile354Thr) c.478T>C c.899T>C c.1195T>C c.965T>C (p.Ile322Thr) n.2056T>C c.769T>C c.593-473T>C c.965T>C c.1223T>C (p.Ile408Thr) n.1011T>C c.819T>C | |
2 | g.32136636T>G | CA346502140 | SPAST | c.*979T>G (n.*979T>G) c.1319T>G (p.Ile440Arg) c.1316T>G (p.Ile439Arg) c.1056T>G c.1220T>G (p.Ile407Arg) c.1093T>G c.1061T>G (p.Ile354Arg) c.478T>G c.899T>G c.1195T>G c.965T>G (p.Ile322Arg) n.2056T>G c.769T>G c.593-473T>G c.965T>G c.1223T>G (p.Ile408Arg) n.1011T>G c.819T>G | |
2 | g.32136637A>C | CA425448716 | SPAST | c.*980A>C (n.*980A>C) c.1320A>C (p.Ile440=) c.1317A>C (p.Ile439=) c.1057A>C c.1221A>C (p.Ile407=) c.1094A>C c.1062A>C (p.Ile354=) c.479A>C c.900A>C c.1196A>C c.966A>C (p.Ile322=) n.2057A>C c.770A>C c.593-472A>C c.966A>C c.1224A>C (p.Ile408=) n.1012A>C c.820A>C | |
2 | g.32136637A>G | CA346502141 | SPAST | c.*980A>G (n.*980A>G) c.1320A>G (p.Ile440Met) c.1317A>G (p.Ile439Met) c.1057A>G c.1221A>G (p.Ile407Met) c.1094A>G c.1062A>G (p.Ile354Met) c.479A>G c.900A>G c.1196A>G c.966A>G (p.Ile322Met) n.2057A>G c.770A>G c.593-472A>G c.966A>G c.1224A>G (p.Ile408Met) n.1012A>G c.820A>G | COSMIC |
2 | g.32136637A>T | CA425448720 | SPAST | c.*980A>T (n.*980A>T) c.1320A>T (p.Ile440=) c.1317A>T (p.Ile439=) c.1057A>T c.1221A>T (p.Ile407=) c.1094A>T c.1062A>T (p.Ile354=) c.479A>T c.900A>T c.1196A>T c.966A>T (p.Ile322=) n.2057A>T c.770A>T c.593-472A>T c.966A>T c.1224A>T (p.Ile408=) n.1012A>T c.820A>T | |
2 | g.32136638G>A | CA346502142 | SPAST | c.*981G>A (n.*981G>A) c.1321G>A (p.Asp441Asn) c.1318G>A (p.Asp440Asn) c.1058G>A c.1222G>A (p.Asp408Asn) c.1095G>A c.1063G>A (p.Asp355Asn) c.480G>A c.901G>A c.1197G>A c.967G>A (p.Asp323Asn) n.2058G>A c.771G>A c.593-471G>A c.967G>A c.1225G>A (p.Asp409Asn) n.1013G>A c.821G>A | dbSNP |
2 | g.32136638G>C | CA346502143 | SPAST | c.*981G>C (n.*981G>C) c.1321G>C (p.Asp441His) c.1318G>C (p.Asp440His) c.1058G>C c.1222G>C (p.Asp408His) c.1095G>C c.1063G>C (p.Asp355His) c.480G>C c.901G>C c.1197G>C c.967G>C (p.Asp323His) n.2058G>C c.771G>C c.593-471G>C c.967G>C c.1225G>C (p.Asp409His) n.1013G>C c.821G>C | |
2 | g.32136638G= | CA1242501268 | SPAST | c.*981G= (n.*981G=) c.1321G= (p.Asp441=) c.1318G= (p.Asp440=) c.1058G= c.1222G= (p.Asp408=) c.1095G= c.1063G= (p.Asp355=) c.480G= c.901G= c.1197G= c.967G= (p.Asp323=) n.2058G= c.771G= c.593-471G= c.967G= c.1225G= (p.Asp409=) n.1013G= c.821G= | |
2 | g.32136638G>T | CA346502144 | SPAST | c.*981G>T (n.*981G>T) c.1321G>T (p.Asp441Tyr) c.1318G>T (p.Asp440Tyr) c.1058G>T c.1222G>T (p.Asp408Tyr) c.1095G>T c.1063G>T (p.Asp355Tyr) c.480G>T c.901G>T c.1197G>T c.967G>T (p.Asp323Tyr) n.2058G>T c.771G>T c.593-471G>T c.967G>T c.1225G>T (p.Asp409Tyr) n.1013G>T c.821G>T | ClinVar dbSNP |
2 | g.32136639dup | CA645523266 | SPAST | c.*981+1dup c.1321+1dup c.1318+1dup c.1058+1dup c.1222+1dup c.1095+1dup c.1063+1dup c.480+1dup c.901+1dup c.1197+1dup c.967+1dup n.2058+1dup c.771+1dup c.593-470dup c.1225+1dup n.1013+1dup c.821+1dup | COSMIC |
2 | g.32136639G>A | CA346502145 | SPAST | c.*981+1G>A (n.*981+1G>A) c.1321+1G>A (n.1321+1G>A) c.1318+1G>A (n.1318+1G>A) c.1058+1G>A c.1222+1G>A (n.1222+1G>A) c.1095+1G>A c.1063+1G>A (n.1063+1G>A) c.480+1G>A c.901+1G>A c.1197+1G>A c.967+1G>A (n.967+1G>A) n.2058+1G>A c.771+1G>A c.593-470G>A c.967+1G>A c.1225+1G>A (n.1225+1G>A) n.1013+1G>A c.821+1G>A | ClinVar dbSNP gnomAD v4 |
2 | g.32136639G>C | CA346502146 | SPAST | c.*981+1G>C (n.*981+1G>C) c.1321+1G>C (n.1321+1G>C) c.1318+1G>C (n.1318+1G>C) c.1058+1G>C c.1222+1G>C (n.1222+1G>C) c.1095+1G>C c.1063+1G>C (n.1063+1G>C) c.480+1G>C c.901+1G>C c.1197+1G>C c.967+1G>C (n.967+1G>C) n.2058+1G>C c.771+1G>C c.593-470G>C c.967+1G>C c.1225+1G>C (n.1225+1G>C) n.1013+1G>C c.821+1G>C | |
2 | g.32136639G>T | CA346502147 | SPAST | c.*981+1G>T (n.*981+1G>T) c.1321+1G>T (n.1321+1G>T) c.1318+1G>T (n.1318+1G>T) c.1058+1G>T c.1222+1G>T (n.1222+1G>T) c.1095+1G>T c.1063+1G>T (n.1063+1G>T) c.480+1G>T c.901+1G>T c.1197+1G>T c.967+1G>T (n.967+1G>T) n.2058+1G>T c.771+1G>T c.593-470G>T c.967+1G>T c.1225+1G>T (n.1225+1G>T) n.1013+1G>T c.821+1G>T | ClinVar dbSNP |
2 | g.32136640T>A | CA346502149 | SPAST | c.*981+2T>A (n.*981+2T>A) c.1321+2T>A (n.1321+2T>A) c.1318+2T>A (n.1318+2T>A) c.1058+2T>A c.1222+2T>A (n.1222+2T>A) c.1095+2T>A c.1063+2T>A (n.1063+2T>A) c.480+2T>A c.901+2T>A c.1197+2T>A c.967+2T>A (n.967+2T>A) n.2058+2T>A c.771+2T>A c.593-469T>A c.967+2T>A c.1225+2T>A (n.1225+2T>A) n.1013+2T>A c.821+2T>A | |
2 | g.32136640T>C | CA346502150 | SPAST | c.*981+2T>C (n.*981+2T>C) c.1321+2T>C (n.1321+2T>C) c.1318+2T>C (n.1318+2T>C) c.1058+2T>C c.1222+2T>C (n.1222+2T>C) c.1095+2T>C c.1063+2T>C (n.1063+2T>C) c.480+2T>C c.901+2T>C c.1197+2T>C c.967+2T>C (n.967+2T>C) n.2058+2T>C c.771+2T>C c.593-469T>C c.967+2T>C c.1225+2T>C (n.1225+2T>C) n.1013+2T>C c.821+2T>C | |
2 | g.32136640T>G | CA346502148 | SPAST | c.*981+2T>G (n.*981+2T>G) c.1321+2T>G (n.1321+2T>G) c.1318+2T>G (n.1318+2T>G) c.1058+2T>G c.1222+2T>G (n.1222+2T>G) c.1095+2T>G c.1063+2T>G (n.1063+2T>G) c.480+2T>G c.901+2T>G c.1197+2T>G c.967+2T>G (n.967+2T>G) n.2058+2T>G c.771+2T>G c.593-469T>G c.967+2T>G c.1225+2T>G (n.1225+2T>G) n.1013+2T>G c.821+2T>G | ClinVar dbSNP |
2 | g.32136640_32136641insTT | CA2580066406 | SPAST | c.*981+2_*981+3insTT (n.*981+2_*981+3insTT) c.1321+2_1321+3insTT (n.1321+2_1321+3insTT) c.1318+2_1318+3insTT (n.1318+2_1318+3insTT) c.1058+2_1058+3insTT c.1222+2_1222+3insTT (n.1222+2_1222+3insTT) c.1095+2_1095+3insTT c.1063+2_1063+3insTT (n.1063+2_1063+3insTT) c.480+2_480+3insTT c.901+2_901+3insTT c.1197+2_1197+3insTT c.967+2_967+3insTT (n.967+2_967+3insTT) n.2058+2_2058+3insTT c.771+2_771+3insTT c.593-469_593-468insTT c.967+2_967+3insTT c.1225+2_1225+3insTT (n.1225+2_1225+3insTT) n.1013+2_1013+3insTT c.821+2_821+3insTT | ClinVar |
2 | g.32136640_32136641insG | CA645523267 | SPAST | c.*981+2_*981+3insG (n.*981+2_*981+3insG) c.1321+2_1321+3insG (n.1321+2_1321+3insG) c.1318+2_1318+3insG (n.1318+2_1318+3insG) c.1058+2_1058+3insG c.1222+2_1222+3insG (n.1222+2_1222+3insG) c.1095+2_1095+3insG c.1063+2_1063+3insG (n.1063+2_1063+3insG) c.480+2_480+3insG c.901+2_901+3insG c.1197+2_1197+3insG c.967+2_967+3insG (n.967+2_967+3insG) n.2058+2_2058+3insG c.771+2_771+3insG c.593-469_593-468insG c.967+2_967+3insG c.1225+2_1225+3insG (n.1225+2_1225+3insG) n.1013+2_1013+3insG c.821+2_821+3insG | COSMIC |
2 | g.32136641A>G | CA2531408268 | SPAST | c.*981+3A>G (n.*981+3A>G) c.1321+3A>G (n.1321+3A>G) c.1318+3A>G (n.1318+3A>G) c.1058+3A>G c.1222+3A>G (n.1222+3A>G) c.1095+3A>G c.1063+3A>G (n.1063+3A>G) c.480+3A>G c.901+3A>G c.1197+3A>G c.967+3A>G (n.967+3A>G) n.2058+3A>G c.771+3A>G c.593-468A>G c.967+3A>G c.1225+3A>G (n.1225+3A>G) n.1013+3A>G c.821+3A>G | ClinVar gnomAD v4 |
2 | g.32136643G>C | CA2658529157 | SPAST | c.*981+5G>C (n.*981+5G>C) c.1321+5G>C (n.1321+5G>C) c.1318+5G>C (n.1318+5G>C) c.1058+5G>C c.1222+5G>C (n.1222+5G>C) c.1095+5G>C c.1063+5G>C (n.1063+5G>C) c.480+5G>C c.901+5G>C c.1197+5G>C c.967+5G>C (n.967+5G>C) n.2058+5G>C c.771+5G>C c.593-466G>C c.967+5G>C c.1225+5G>C (n.1225+5G>C) n.1013+5G>C c.821+5G>C | gnomAD v4 |
2 | g.32136644A= | CA1242501269 | SPAST | c.*981+6A= (n.*981+6A=) c.1321+6A= (n.1321+6A=) c.1318+6A= (n.1318+6A=) c.1058+6A= c.1222+6A= (n.1222+6A=) c.1095+6A= c.1063+6A= (n.1063+6A=) c.480+6A= c.901+6A= c.1197+6A= c.967+6A= (n.967+6A=) n.2058+6A= c.771+6A= c.593-465A= c.967+6A= c.1225+6A= (n.1225+6A=) n.1013+6A= c.821+6A= | |
2 | g.32136644A>C | CA1242501270 | SPAST | c.*981+6A>C (n.*981+6A>C) c.1321+6A>C (n.1321+6A>C) c.1318+6A>C (n.1318+6A>C) c.1058+6A>C c.1222+6A>C (n.1222+6A>C) c.1095+6A>C c.1063+6A>C (n.1063+6A>C) c.480+6A>C c.901+6A>C c.1197+6A>C c.967+6A>C (n.967+6A>C) n.2058+6A>C c.771+6A>C c.593-465A>C c.967+6A>C c.1225+6A>C (n.1225+6A>C) n.1013+6A>C c.821+6A>C | dbSNP |
2 | g.32136646C= | CA1242501272 | SPAST | c.*981+8C= (n.*981+8C=) c.1321+8C= (n.1321+8C=) c.1318+8C= (n.1318+8C=) c.1058+8C= c.1222+8C= (n.1222+8C=) c.1095+8C= c.1063+8C= (n.1063+8C=) c.480+8C= c.901+8C= c.1197+8C= c.967+8C= (n.967+8C=) n.2058+8C= c.771+8C= c.593-463C= c.967+8C= c.1225+8C= (n.1225+8C=) n.1013+8C= c.821+8C= | |
2 | g.32136646C>T | CA915943723 | SPAST | c.*981+8C>T (n.*981+8C>T) c.1321+8C>T (n.1321+8C>T) c.1318+8C>T (n.1318+8C>T) c.1058+8C>T c.1222+8C>T (n.1222+8C>T) c.1095+8C>T c.1063+8C>T (n.1063+8C>T) c.480+8C>T c.901+8C>T c.1197+8C>T c.967+8C>T (n.967+8C>T) n.2058+8C>T c.771+8C>T c.593-463C>T c.967+8C>T c.1225+8C>T (n.1225+8C>T) n.1013+8C>T c.821+8C>T | ClinVar dbSNP |
2 | g.32136647A= | CA1242501278 | SPAST | c.*981+9A= (n.*981+9A=) c.1321+9A= (n.1321+9A=) c.1318+9A= (n.1318+9A=) c.1058+9A= c.1222+9A= (n.1222+9A=) c.1095+9A= c.1063+9A= (n.1063+9A=) c.480+9A= c.901+9A= c.1197+9A= c.967+9A= (n.967+9A=) n.2058+9A= c.771+9A= c.593-462A= c.967+9A= c.1225+9A= (n.1225+9A=) n.1013+9A= c.821+9A= | |
2 | g.32136647A>G | CA1600861 | SPAST | c.*981+9A>G (n.*981+9A>G) c.1321+9A>G (n.1321+9A>G) c.1318+9A>G (n.1318+9A>G) c.1058+9A>G c.1222+9A>G (n.1222+9A>G) c.1095+9A>G c.1063+9A>G (n.1063+9A>G) c.480+9A>G c.901+9A>G c.1197+9A>G c.967+9A>G (n.967+9A>G) n.2058+9A>G c.771+9A>G c.593-462A>G c.967+9A>G c.1225+9A>G (n.1225+9A>G) n.1013+9A>G c.821+9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32136649_32136650del | CA2658529158 | SPAST | c.*981+11_*981+12del (n.*981+11_*981+12del) c.1321+11_1321+12del (n.1321+11_1321+12del) c.1318+11_1318+12del (n.1318+11_1318+12del) c.1058+11_1058+12del c.1222+11_1222+12del (n.1222+11_1222+12del) c.1095+11_1095+12del c.1063+11_1063+12del (n.1063+11_1063+12del) c.480+11_480+12del c.901+11_901+12del c.1197+11_1197+12del c.967+11_967+12del (n.967+11_967+12del) n.2058+11_2058+12del c.771+11_771+12del c.593-460_593-459del c.967+11_967+12del c.1225+11_1225+12del (n.1225+11_1225+12del) n.1013+11_1013+12del c.821+11_821+12del | gnomAD v4 |
2 | g.32136649A>T | CA2658529159 | SPAST | c.*981+11A>T (n.*981+11A>T) c.1321+11A>T (n.1321+11A>T) c.1318+11A>T (n.1318+11A>T) c.1058+11A>T c.1222+11A>T (n.1222+11A>T) c.1095+11A>T c.1063+11A>T (n.1063+11A>T) c.480+11A>T c.901+11A>T c.1197+11A>T c.967+11A>T (n.967+11A>T) n.2058+11A>T c.771+11A>T c.593-460A>T c.967+11A>T c.1225+11A>T (n.1225+11A>T) n.1013+11A>T c.821+11A>T | gnomAD v4 |
2 | g.32136650T>C | CA646601857 | SPAST | c.*981+12T>C (n.*981+12T>C) c.1321+12T>C (n.1321+12T>C) c.1318+12T>C (n.1318+12T>C) c.1058+12T>C c.1222+12T>C (n.1222+12T>C) c.1095+12T>C c.1063+12T>C (n.1063+12T>C) c.480+12T>C c.901+12T>C c.1197+12T>C c.967+12T>C (n.967+12T>C) n.2058+12T>C c.771+12T>C c.593-459T>C c.967+12T>C c.1225+12T>C (n.1225+12T>C) n.1013+12T>C c.821+12T>C | COSMIC |
2 | g.32136651T>C | CA2740092812 | SPAST | c.*981+13T>C (n.*981+13T>C) c.1321+13T>C (n.1321+13T>C) c.1318+13T>C (n.1318+13T>C) c.1058+13T>C c.1222+13T>C (n.1222+13T>C) c.1095+13T>C c.1063+13T>C (n.1063+13T>C) c.480+13T>C c.901+13T>C c.1197+13T>C c.967+13T>C (n.967+13T>C) n.2058+13T>C c.771+13T>C c.593-458T>C c.967+13T>C c.1225+13T>C (n.1225+13T>C) n.1013+13T>C c.821+13T>C | ClinVar |
2 | g.32136655C>A | CA2658529160 | SPAST | c.*981+17C>A (n.*981+17C>A) c.1321+17C>A (n.1321+17C>A) c.1318+17C>A (n.1318+17C>A) c.1058+17C>A c.1222+17C>A (n.1222+17C>A) c.1095+17C>A c.1063+17C>A (n.1063+17C>A) c.480+17C>A c.901+17C>A c.1197+17C>A c.967+17C>A (n.967+17C>A) n.2058+17C>A c.771+17C>A c.593-454C>A c.967+17C>A c.1225+17C>A (n.1225+17C>A) n.1013+17C>A c.821+17C>A | gnomAD v4 |
2 | g.32136655C= | CA1242501280 | SPAST | c.*981+17C= (n.*981+17C=) c.1321+17C= (n.1321+17C=) c.1318+17C= (n.1318+17C=) c.1058+17C= c.1222+17C= (n.1222+17C=) c.1095+17C= c.1063+17C= (n.1063+17C=) c.480+17C= c.901+17C= c.1197+17C= c.967+17C= (n.967+17C=) n.2058+17C= c.771+17C= c.593-454C= c.967+17C= c.1225+17C= (n.1225+17C=) n.1013+17C= c.821+17C= | |
2 | g.32136655C>T | CA1600862 | SPAST | c.*981+17C>T (n.*981+17C>T) c.1321+17C>T (n.1321+17C>T) c.1318+17C>T (n.1318+17C>T) c.1058+17C>T c.1222+17C>T (n.1222+17C>T) c.1095+17C>T c.1063+17C>T (n.1063+17C>T) c.480+17C>T c.901+17C>T c.1197+17C>T c.967+17C>T (n.967+17C>T) n.2058+17C>T c.771+17C>T c.593-454C>T c.967+17C>T c.1225+17C>T (n.1225+17C>T) n.1013+17C>T c.821+17C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32136657A>C | CA2740092813 | SPAST | c.*981+19A>C (n.*981+19A>C) c.1321+19A>C (n.1321+19A>C) c.1318+19A>C (n.1318+19A>C) c.1058+19A>C c.1222+19A>C (n.1222+19A>C) c.1095+19A>C c.1063+19A>C (n.1063+19A>C) c.480+19A>C c.901+19A>C c.1197+19A>C c.967+19A>C (n.967+19A>C) n.2058+19A>C c.771+19A>C c.593-452A>C c.967+19A>C c.1225+19A>C (n.1225+19A>C) n.1013+19A>C c.821+19A>C | ClinVar |
2 | g.32136657A>G | CA2658529161 | SPAST | c.*981+19A>G (n.*981+19A>G) c.1321+19A>G (n.1321+19A>G) c.1318+19A>G (n.1318+19A>G) c.1058+19A>G c.1222+19A>G (n.1222+19A>G) c.1095+19A>G c.1063+19A>G (n.1063+19A>G) c.480+19A>G c.901+19A>G c.1197+19A>G c.967+19A>G (n.967+19A>G) n.2058+19A>G c.771+19A>G c.593-452A>G c.967+19A>G c.1225+19A>G (n.1225+19A>G) n.1013+19A>G c.821+19A>G | gnomAD v4 |
2 | g.32136658C>A | CA2658529162 | SPAST | c.*981+20C>A (n.*981+20C>A) c.1321+20C>A (n.1321+20C>A) c.1318+20C>A (n.1318+20C>A) c.1058+20C>A c.1222+20C>A (n.1222+20C>A) c.1095+20C>A c.1063+20C>A (n.1063+20C>A) c.480+20C>A c.901+20C>A c.1197+20C>A c.967+20C>A (n.967+20C>A) n.2058+20C>A c.771+20C>A c.593-451C>A c.967+20C>A c.1225+20C>A (n.1225+20C>A) n.1013+20C>A c.821+20C>A | gnomAD v4 |
2 | g.32136658C= | CA1242501283 | SPAST | c.*981+20C= (n.*981+20C=) c.1321+20C= (n.1321+20C=) c.1318+20C= (n.1318+20C=) c.1058+20C= c.1222+20C= (n.1222+20C=) c.1095+20C= c.1063+20C= (n.1063+20C=) c.480+20C= c.901+20C= c.1197+20C= c.967+20C= (n.967+20C=) n.2058+20C= c.771+20C= c.593-451C= c.967+20C= c.1225+20C= (n.1225+20C=) n.1013+20C= c.821+20C= | |
2 | g.32136658C>T | CA1029031963 | SPAST | c.*981+20C>T (n.*981+20C>T) c.1321+20C>T (n.1321+20C>T) c.1318+20C>T (n.1318+20C>T) c.1058+20C>T c.1222+20C>T (n.1222+20C>T) c.1095+20C>T c.1063+20C>T (n.1063+20C>T) c.480+20C>T c.901+20C>T c.1197+20C>T c.967+20C>T (n.967+20C>T) n.2058+20C>T c.771+20C>T c.593-451C>T c.967+20C>T c.1225+20C>T (n.1225+20C>T) n.1013+20C>T c.821+20C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32136659T>A | CA2576930383 | SPAST | c.*981+21T>A (n.*981+21T>A) c.1321+21T>A (n.1321+21T>A) c.1318+21T>A (n.1318+21T>A) c.1058+21T>A c.1222+21T>A (n.1222+21T>A) c.1095+21T>A c.1063+21T>A (n.1063+21T>A) c.480+21T>A c.901+21T>A c.1197+21T>A c.967+21T>A (n.967+21T>A) n.2058+21T>A c.771+21T>A c.593-450T>A c.967+21T>A c.1225+21T>A (n.1225+21T>A) n.1013+21T>A c.821+21T>A | gnomAD v4 |
2 | g.32136659T>G | CA2740261291 | SPAST | c.*981+21T>G (n.*981+21T>G) c.1321+21T>G (n.1321+21T>G) c.1318+21T>G (n.1318+21T>G) c.1058+21T>G c.1222+21T>G (n.1222+21T>G) c.1095+21T>G c.1063+21T>G (n.1063+21T>G) c.480+21T>G c.901+21T>G c.1197+21T>G c.967+21T>G (n.967+21T>G) n.2058+21T>G c.771+21T>G c.593-450T>G c.967+21T>G c.1225+21T>G (n.1225+21T>G) n.1013+21T>G c.821+21T>G | |
2 | g.32136660A>G | CA2658529163 | SPAST | c.*981+22A>G (n.*981+22A>G) c.1321+22A>G (n.1321+22A>G) c.1318+22A>G (n.1318+22A>G) c.1058+22A>G c.1222+22A>G (n.1222+22A>G) c.1095+22A>G c.1063+22A>G (n.1063+22A>G) c.480+22A>G c.901+22A>G c.1197+22A>G c.967+22A>G (n.967+22A>G) n.2058+22A>G c.771+22A>G c.593-449A>G c.967+22A>G c.1225+22A>G (n.1225+22A>G) n.1013+22A>G c.821+22A>G | gnomAD v4 |