Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32133666_32137711dupCA10575837SPASTc.*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
2g.32133667_32137711dupCA10575495SPASTc.*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
2g.32137075delCA2658529293SPASTc.*1074-34del (n.*1074-34del)
c.1414-34del (n.1414-34del)
c.1411-34del (n.1411-34del)
c.1151-34del
c.1315-34del (n.1315-34del)
c.1188-34del
c.1156-34del (n.1156-34del)
c.481-34del
c.994-34del
c.1290-34del
c.1060-34del (n.1060-34del)
n.2151-34del
c.864-34del
c.593-34del
c.1060-34del
c.1318-34del (n.1318-34del)
n.1106-34del
c.914-34del
 gnomAD v4
2g.32137075C=CA1242501945SPASTc.*1074-34C= (n.*1074-34C=)
c.1414-34C= (n.1414-34C=)
c.1411-34C= (n.1411-34C=)
c.1151-34C=
c.1315-34C= (n.1315-34C=)
c.1188-34C=
c.1156-34C= (n.1156-34C=)
c.481-34C=
c.994-34C=
c.1290-34C=
c.1060-34C= (n.1060-34C=)
n.2151-34C=
c.864-34C=
c.593-34C=
c.1060-34C=
c.1318-34C= (n.1318-34C=)
n.1106-34C=
c.914-34C=
2g.32137075C>TCA1600890SPASTc.*1074-34C>T (n.*1074-34C>T)
c.1414-34C>T (n.1414-34C>T)
c.1411-34C>T (n.1411-34C>T)
c.1151-34C>T
c.1315-34C>T (n.1315-34C>T)
c.1188-34C>T
c.1156-34C>T (n.1156-34C>T)
c.481-34C>T
c.994-34C>T
c.1290-34C>T
c.1060-34C>T (n.1060-34C>T)
n.2151-34C>T
c.864-34C>T
c.593-34C>T
c.1060-34C>T
c.1318-34C>T (n.1318-34C>T)
n.1106-34C>T
c.914-34C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32137076T>ACA2658529294SPASTc.*1074-33T>A (n.*1074-33T>A)
c.1414-33T>A (n.1414-33T>A)
c.1411-33T>A (n.1411-33T>A)
c.1151-33T>A
c.1315-33T>A (n.1315-33T>A)
c.1188-33T>A
c.1156-33T>A (n.1156-33T>A)
c.481-33T>A
c.994-33T>A
c.1290-33T>A
c.1060-33T>A (n.1060-33T>A)
n.2151-33T>A
c.864-33T>A
c.593-33T>A
c.1060-33T>A
c.1318-33T>A (n.1318-33T>A)
n.1106-33T>A
c.914-33T>A
 gnomAD v4
2g.32137076T>CCA531501873SPASTc.*1074-33T>C (n.*1074-33T>C)
c.1414-33T>C (n.1414-33T>C)
c.1411-33T>C (n.1411-33T>C)
c.1151-33T>C
c.1315-33T>C (n.1315-33T>C)
c.1188-33T>C
c.1156-33T>C (n.1156-33T>C)
c.481-33T>C
c.994-33T>C
c.1290-33T>C
c.1060-33T>C (n.1060-33T>C)
n.2151-33T>C
c.864-33T>C
c.593-33T>C
c.1060-33T>C
c.1318-33T>C (n.1318-33T>C)
n.1106-33T>C
c.914-33T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32137076T=CA1242501948SPASTc.*1074-33T= (n.*1074-33T=)
c.1414-33T= (n.1414-33T=)
c.1411-33T= (n.1411-33T=)
c.1151-33T=
c.1315-33T= (n.1315-33T=)
c.1188-33T=
c.1156-33T= (n.1156-33T=)
c.481-33T=
c.994-33T=
c.1290-33T=
c.1060-33T= (n.1060-33T=)
n.2151-33T=
c.864-33T=
c.593-33T=
c.1060-33T=
c.1318-33T= (n.1318-33T=)
n.1106-33T=
c.914-33T=
2g.32137079A>CCA2658529295SPASTc.*1074-30A>C (n.*1074-30A>C)
c.1414-30A>C (n.1414-30A>C)
c.1411-30A>C (n.1411-30A>C)
c.1151-30A>C
c.1315-30A>C (n.1315-30A>C)
c.1188-30A>C
c.1156-30A>C (n.1156-30A>C)
c.481-30A>C
c.994-30A>C
c.1290-30A>C
c.1060-30A>C (n.1060-30A>C)
n.2151-30A>C
c.864-30A>C
c.593-30A>C
c.1060-30A>C
c.1318-30A>C (n.1318-30A>C)
n.1106-30A>C
c.914-30A>C
 gnomAD v4
2g.32137079A>GCA2658529296SPASTc.*1074-30A>G (n.*1074-30A>G)
c.1414-30A>G (n.1414-30A>G)
c.1411-30A>G (n.1411-30A>G)
c.1151-30A>G
c.1315-30A>G (n.1315-30A>G)
c.1188-30A>G
c.1156-30A>G (n.1156-30A>G)
c.481-30A>G
c.994-30A>G
c.1290-30A>G
c.1060-30A>G (n.1060-30A>G)
n.2151-30A>G
c.864-30A>G
c.593-30A>G
c.1060-30A>G
c.1318-30A>G (n.1318-30A>G)
n.1106-30A>G
c.914-30A>G
 gnomAD v4
2g.32137084T>CCA1029032083SPASTc.*1074-25T>C (n.*1074-25T>C)
c.1414-25T>C (n.1414-25T>C)
c.1411-25T>C (n.1411-25T>C)
c.1151-25T>C
c.1315-25T>C (n.1315-25T>C)
c.1188-25T>C
c.1156-25T>C (n.1156-25T>C)
c.481-25T>C
c.994-25T>C
c.1290-25T>C
c.1060-25T>C (n.1060-25T>C)
n.2151-25T>C
c.864-25T>C
c.593-25T>C
c.1060-25T>C
c.1318-25T>C (n.1318-25T>C)
n.1106-25T>C
c.914-25T>C
 dbSNP gnomAD v3 gnomAD v4
2g.32137084T=CA1242501950SPASTc.*1074-25T= (n.*1074-25T=)
c.1414-25T= (n.1414-25T=)
c.1411-25T= (n.1411-25T=)
c.1151-25T=
c.1315-25T= (n.1315-25T=)
c.1188-25T=
c.1156-25T= (n.1156-25T=)
c.481-25T=
c.994-25T=
c.1290-25T=
c.1060-25T= (n.1060-25T=)
n.2151-25T=
c.864-25T=
c.593-25T=
c.1060-25T=
c.1318-25T= (n.1318-25T=)
n.1106-25T=
c.914-25T=
2g.32137086G>ACA767792938SPASTc.*1074-23G>A (n.*1074-23G>A)
c.1414-23G>A (n.1414-23G>A)
c.1411-23G>A (n.1411-23G>A)
c.1151-23G>A
c.1315-23G>A (n.1315-23G>A)
c.1188-23G>A
c.1156-23G>A (n.1156-23G>A)
c.481-23G>A
c.994-23G>A
c.1290-23G>A
c.1060-23G>A (n.1060-23G>A)
n.2151-23G>A
c.864-23G>A
c.593-23G>A
c.1060-23G>A
c.1318-23G>A (n.1318-23G>A)
n.1106-23G>A
c.914-23G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32137086G=CA1242501952SPASTc.*1074-23G= (n.*1074-23G=)
c.1414-23G= (n.1414-23G=)
c.1411-23G= (n.1411-23G=)
c.1151-23G=
c.1315-23G= (n.1315-23G=)
c.1188-23G=
c.1156-23G= (n.1156-23G=)
c.481-23G=
c.994-23G=
c.1290-23G=
c.1060-23G= (n.1060-23G=)
n.2151-23G=
c.864-23G=
c.593-23G=
c.1060-23G=
c.1318-23G= (n.1318-23G=)
n.1106-23G=
c.914-23G=
2g.32137086G>TCA1600891SPASTc.*1074-23G>T (n.*1074-23G>T)
c.1414-23G>T (n.1414-23G>T)
c.1411-23G>T (n.1411-23G>T)
c.1151-23G>T
c.1315-23G>T (n.1315-23G>T)
c.1188-23G>T
c.1156-23G>T (n.1156-23G>T)
c.481-23G>T
c.994-23G>T
c.1290-23G>T
c.1060-23G>T (n.1060-23G>T)
n.2151-23G>T
c.864-23G>T
c.593-23G>T
c.1060-23G>T
c.1318-23G>T (n.1318-23G>T)
n.1106-23G>T
c.914-23G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137086_32137087delinsGACA1242501954SPASTc.*1074-23_*1074-22delinsGA (n.*1074-23_*1074-22delinsGA)
c.1414-23_1414-22delinsGA (n.1414-23_1414-22delinsGA)
c.1411-23_1411-22delinsGA (n.1411-23_1411-22delinsGA)
c.1151-23_1151-22delinsGA
c.1315-23_1315-22delinsGA (n.1315-23_1315-22delinsGA)
c.1188-23_1188-22delinsGA
c.1156-23_1156-22delinsGA (n.1156-23_1156-22delinsGA)
c.481-23_481-22delinsGA
c.994-23_994-22delinsGA
c.1290-23_1290-22delinsGA
c.1060-23_1060-22delinsGA (n.1060-23_1060-22delinsGA)
n.2151-23_2151-22delinsGA
c.864-23_864-22delinsGA
c.593-23_593-22delinsGA
c.1060-23_1060-22delinsGA
c.1318-23_1318-22delinsGA (n.1318-23_1318-22delinsGA)
n.1106-23_1106-22delinsGA
c.914-23_914-22delinsGA
2g.32137092delCA1242501956SPASTc.*1074-17del (n.*1074-17del)
c.1414-17del (n.1414-17del)
c.1411-17del (n.1411-17del)
c.1151-17del
c.1315-17del (n.1315-17del)
c.1188-17del
c.1156-17del (n.1156-17del)
c.481-17del
c.994-17del
c.1290-17del
c.1060-17del (n.1060-17del)
n.2151-17del
c.864-17del
c.593-17del
c.1060-17del
c.1318-17del (n.1318-17del)
n.1106-17del
c.914-17del
 dbSNP
2g.32137088A=CA1242501958SPASTc.*1074-21A= (n.*1074-21A=)
c.1414-21A= (n.1414-21A=)
c.1411-21A= (n.1411-21A=)
c.1151-21A=
c.1315-21A= (n.1315-21A=)
c.1188-21A=
c.1156-21A= (n.1156-21A=)
c.481-21A=
c.994-21A=
c.1290-21A=
c.1060-21A= (n.1060-21A=)
n.2151-21A=
c.864-21A=
c.593-21A=
c.1060-21A=
c.1318-21A= (n.1318-21A=)
n.1106-21A=
c.914-21A=
2g.32137088A>GCA1029032086SPASTc.*1074-21A>G (n.*1074-21A>G)
c.1414-21A>G (n.1414-21A>G)
c.1411-21A>G (n.1411-21A>G)
c.1151-21A>G
c.1315-21A>G (n.1315-21A>G)
c.1188-21A>G
c.1156-21A>G (n.1156-21A>G)
c.481-21A>G
c.994-21A>G
c.1290-21A>G
c.1060-21A>G (n.1060-21A>G)
n.2151-21A>G
c.864-21A>G
c.593-21A>G
c.1060-21A>G
c.1318-21A>G (n.1318-21A>G)
n.1106-21A>G
c.914-21A>G
 dbSNP gnomAD v3 gnomAD v4
2g.32137088A>TCA2576930457SPASTc.*1074-21A>T (n.*1074-21A>T)
c.1414-21A>T (n.1414-21A>T)
c.1411-21A>T (n.1411-21A>T)
c.1151-21A>T
c.1315-21A>T (n.1315-21A>T)
c.1188-21A>T
c.1156-21A>T (n.1156-21A>T)
c.481-21A>T
c.994-21A>T
c.1290-21A>T
c.1060-21A>T (n.1060-21A>T)
n.2151-21A>T
c.864-21A>T
c.593-21A>T
c.1060-21A>T
c.1318-21A>T (n.1318-21A>T)
n.1106-21A>T
c.914-21A>T
2g.32137091A>CCA2658529297SPASTc.*1074-18A>C (n.*1074-18A>C)
c.1414-18A>C (n.1414-18A>C)
c.1411-18A>C (n.1411-18A>C)
c.1151-18A>C
c.1315-18A>C (n.1315-18A>C)
c.1188-18A>C
c.1156-18A>C (n.1156-18A>C)
c.481-18A>C
c.994-18A>C
c.1290-18A>C
c.1060-18A>C (n.1060-18A>C)
n.2151-18A>C
c.864-18A>C
c.593-18A>C
c.1060-18A>C
c.1318-18A>C (n.1318-18A>C)
n.1106-18A>C
c.914-18A>C
 gnomAD v4
2g.32137093G=CA1242501960SPASTc.*1074-16G= (n.*1074-16G=)
c.1414-16G= (n.1414-16G=)
c.1411-16G= (n.1411-16G=)
c.1151-16G=
c.1315-16G= (n.1315-16G=)
c.1188-16G=
c.1156-16G= (n.1156-16G=)
c.481-16G=
c.994-16G=
c.1290-16G=
c.1060-16G= (n.1060-16G=)
n.2151-16G=
c.864-16G=
c.593-16G=
c.1060-16G=
c.1318-16G= (n.1318-16G=)
n.1106-16G=
c.914-16G=
2g.32137093G>TCA1600892SPASTc.*1074-16G>T (n.*1074-16G>T)
c.1414-16G>T (n.1414-16G>T)
c.1411-16G>T (n.1411-16G>T)
c.1151-16G>T
c.1315-16G>T (n.1315-16G>T)
c.1188-16G>T
c.1156-16G>T (n.1156-16G>T)
c.481-16G>T
c.994-16G>T
c.1290-16G>T
c.1060-16G>T (n.1060-16G>T)
n.2151-16G>T
c.864-16G>T
c.593-16G>T
c.1060-16G>T
c.1318-16G>T (n.1318-16G>T)
n.1106-16G>T
c.914-16G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32137094A=CA1242501963SPASTc.*1074-15A= (n.*1074-15A=)
c.1414-15A= (n.1414-15A=)
c.1411-15A= (n.1411-15A=)
c.1151-15A=
c.1315-15A= (n.1315-15A=)
c.1188-15A=
c.1156-15A= (n.1156-15A=)
c.481-15A=
c.994-15A=
c.1290-15A=
c.1060-15A= (n.1060-15A=)
n.2151-15A=
c.864-15A=
c.593-15A=
c.1060-15A=
c.1318-15A= (n.1318-15A=)
n.1106-15A=
c.914-15A=
2g.32137094A>GCA1600893SPASTc.*1074-15A>G (n.*1074-15A>G)
c.1414-15A>G (n.1414-15A>G)
c.1411-15A>G (n.1411-15A>G)
c.1151-15A>G
c.1315-15A>G (n.1315-15A>G)
c.1188-15A>G
c.1156-15A>G (n.1156-15A>G)
c.481-15A>G
c.994-15A>G
c.1290-15A>G
c.1060-15A>G (n.1060-15A>G)
n.2151-15A>G
c.864-15A>G
c.593-15A>G
c.1060-15A>G
c.1318-15A>G (n.1318-15A>G)
n.1106-15A>G
c.914-15A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137094A>TCA1029032092SPASTc.*1074-15A>T (n.*1074-15A>T)
c.1414-15A>T (n.1414-15A>T)
c.1411-15A>T (n.1411-15A>T)
c.1151-15A>T
c.1315-15A>T (n.1315-15A>T)
c.1188-15A>T
c.1156-15A>T (n.1156-15A>T)
c.481-15A>T
c.994-15A>T
c.1290-15A>T
c.1060-15A>T (n.1060-15A>T)
n.2151-15A>T
c.864-15A>T
c.593-15A>T
c.1060-15A>T
c.1318-15A>T (n.1318-15A>T)
n.1106-15A>T
c.914-15A>T
 dbSNP gnomAD v3 gnomAD v4
2g.32137095T>GCA2749393759SPASTc.*1074-14T>G (n.*1074-14T>G)
c.1414-14T>G (n.1414-14T>G)
c.1411-14T>G (n.1411-14T>G)
c.1151-14T>G
c.1315-14T>G (n.1315-14T>G)
c.1188-14T>G
c.1156-14T>G (n.1156-14T>G)
c.481-14T>G
c.994-14T>G
c.1290-14T>G
c.1060-14T>G (n.1060-14T>G)
n.2151-14T>G
c.864-14T>G
c.593-14T>G
c.1060-14T>G
c.1318-14T>G (n.1318-14T>G)
n.1106-14T>G
c.914-14T>G
2g.32137100dupCA1600894SPASTc.*1074-9dup (n.*1074-9dup)
c.1414-9dup (n.1414-9dup)
c.1411-9dup (n.1411-9dup)
c.1151-9dup
c.1315-9dup (n.1315-9dup)
c.1188-9dup
c.1156-9dup (n.1156-9dup)
c.481-9dup
c.994-9dup
c.1290-9dup
c.1060-9dup (n.1060-9dup)
n.2151-9dup
c.864-9dup
c.593-9dup
c.1060-9dup
c.1318-9dup (n.1318-9dup)
n.1106-9dup
c.914-9dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137100delCA2658529298SPASTc.*1074-9del (n.*1074-9del)
c.1414-9del (n.1414-9del)
c.1411-9del (n.1411-9del)
c.1151-9del
c.1315-9del (n.1315-9del)
c.1188-9del
c.1156-9del (n.1156-9del)
c.481-9del
c.994-9del
c.1290-9del
c.1060-9del (n.1060-9del)
n.2151-9del
c.864-9del
c.593-9del
c.1060-9del
c.1318-9del (n.1318-9del)
n.1106-9del
c.914-9del
 gnomAD v4
2g.32137096T>CCA2658529299SPASTc.*1074-13T>C (n.*1074-13T>C)
c.1414-13T>C (n.1414-13T>C)
c.1411-13T>C (n.1411-13T>C)
c.1151-13T>C
c.1315-13T>C (n.1315-13T>C)
c.1188-13T>C
c.1156-13T>C (n.1156-13T>C)
c.481-13T>C
c.994-13T>C
c.1290-13T>C
c.1060-13T>C (n.1060-13T>C)
n.2151-13T>C
c.864-13T>C
c.593-13T>C
c.1060-13T>C
c.1318-13T>C (n.1318-13T>C)
n.1106-13T>C
c.914-13T>C
 gnomAD v4
2g.32137097T>ACA531501960SPASTc.*1074-12T>A (n.*1074-12T>A)
c.1414-12T>A (n.1414-12T>A)
c.1411-12T>A (n.1411-12T>A)
c.1151-12T>A
c.1315-12T>A (n.1315-12T>A)
c.1188-12T>A
c.1156-12T>A (n.1156-12T>A)
c.481-12T>A
c.994-12T>A
c.1290-12T>A
c.1060-12T>A (n.1060-12T>A)
n.2151-12T>A
c.864-12T>A
c.593-12T>A
c.1060-12T>A
c.1318-12T>A (n.1318-12T>A)
n.1106-12T>A
c.914-12T>A
 dbSNP gnomAD v2 gnomAD v4
2g.32137097T=CA1242501966SPASTc.*1074-12T= (n.*1074-12T=)
c.1414-12T= (n.1414-12T=)
c.1411-12T= (n.1411-12T=)
c.1151-12T=
c.1315-12T= (n.1315-12T=)
c.1188-12T=
c.1156-12T= (n.1156-12T=)
c.481-12T=
c.994-12T=
c.1290-12T=
c.1060-12T= (n.1060-12T=)
n.2151-12T=
c.864-12T=
c.593-12T=
c.1060-12T=
c.1318-12T= (n.1318-12T=)
n.1106-12T=
c.914-12T=
2g.32137099T>CCA1242501968SPASTc.*1074-10T>C (n.*1074-10T>C)
c.1414-10T>C (n.1414-10T>C)
c.1411-10T>C (n.1411-10T>C)
c.1151-10T>C
c.1315-10T>C (n.1315-10T>C)
c.1188-10T>C
c.1156-10T>C (n.1156-10T>C)
c.481-10T>C
c.994-10T>C
c.1290-10T>C
c.1060-10T>C (n.1060-10T>C)
n.2151-10T>C
c.864-10T>C
c.593-10T>C
c.1060-10T>C
c.1318-10T>C (n.1318-10T>C)
n.1106-10T>C
c.914-10T>C
 dbSNP
2g.32137099T=CA1242501970SPASTc.*1074-10T= (n.*1074-10T=)
c.1414-10T= (n.1414-10T=)
c.1411-10T= (n.1411-10T=)
c.1151-10T=
c.1315-10T= (n.1315-10T=)
c.1188-10T=
c.1156-10T= (n.1156-10T=)
c.481-10T=
c.994-10T=
c.1290-10T=
c.1060-10T= (n.1060-10T=)
n.2151-10T=
c.864-10T=
c.593-10T=
c.1060-10T=
c.1318-10T= (n.1318-10T=)
n.1106-10T=
c.914-10T=
2g.32137100T>CCA1600895SPASTc.*1074-9T>C (n.*1074-9T>C)
c.1414-9T>C (n.1414-9T>C)
c.1411-9T>C (n.1411-9T>C)
c.1151-9T>C
c.1315-9T>C (n.1315-9T>C)
c.1188-9T>C
c.1156-9T>C (n.1156-9T>C)
c.481-9T>C
c.994-9T>C
c.1290-9T>C
c.1060-9T>C (n.1060-9T>C)
n.2151-9T>C
c.864-9T>C
c.593-9T>C
c.1060-9T>C
c.1318-9T>C (n.1318-9T>C)
n.1106-9T>C
c.914-9T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32137100T=CA1242501971SPASTc.*1074-9T= (n.*1074-9T=)
c.1414-9T= (n.1414-9T=)
c.1411-9T= (n.1411-9T=)
c.1151-9T=
c.1315-9T= (n.1315-9T=)
c.1188-9T=
c.1156-9T= (n.1156-9T=)
c.481-9T=
c.994-9T=
c.1290-9T=
c.1060-9T= (n.1060-9T=)
n.2151-9T=
c.864-9T=
c.593-9T=
c.1060-9T=
c.1318-9T= (n.1318-9T=)
n.1106-9T=
c.914-9T=
2g.32137102C=CA1242501974SPASTc.*1074-7C= (n.*1074-7C=)
c.1414-7C= (n.1414-7C=)
c.1411-7C= (n.1411-7C=)
c.1151-7C=
c.1315-7C= (n.1315-7C=)
c.1188-7C=
c.1156-7C= (n.1156-7C=)
c.481-7C=
c.994-7C=
c.1290-7C=
c.1060-7C= (n.1060-7C=)
n.2151-7C=
c.864-7C=
c.593-7C=
c.1060-7C=
c.1318-7C= (n.1318-7C=)
n.1106-7C=
c.914-7C=
2g.32137102C>GCA2658529300SPASTc.*1074-7C>G (n.*1074-7C>G)
c.1414-7C>G (n.1414-7C>G)
c.1411-7C>G (n.1411-7C>G)
c.1151-7C>G
c.1315-7C>G (n.1315-7C>G)
c.1188-7C>G
c.1156-7C>G (n.1156-7C>G)
c.481-7C>G
c.994-7C>G
c.1290-7C>G
c.1060-7C>G (n.1060-7C>G)
n.2151-7C>G
c.864-7C>G
c.593-7C>G
c.1060-7C>G
c.1318-7C>G (n.1318-7C>G)
n.1106-7C>G
c.914-7C>G
 gnomAD v4
2g.32137102C>TCA1600896SPASTc.*1074-7C>T (n.*1074-7C>T)
c.1414-7C>T (n.1414-7C>T)
c.1411-7C>T (n.1411-7C>T)
c.1151-7C>T
c.1315-7C>T (n.1315-7C>T)
c.1188-7C>T
c.1156-7C>T (n.1156-7C>T)
c.481-7C>T
c.994-7C>T
c.1290-7C>T
c.1060-7C>T (n.1060-7C>T)
n.2151-7C>T
c.864-7C>T
c.593-7C>T
c.1060-7C>T
c.1318-7C>T (n.1318-7C>T)
n.1106-7C>T
c.914-7C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32137103T>CCA1600897SPASTc.*1074-6T>C (n.*1074-6T>C)
c.1414-6T>C (n.1414-6T>C)
c.1411-6T>C (n.1411-6T>C)
c.1151-6T>C
c.1315-6T>C (n.1315-6T>C)
c.1188-6T>C
c.1156-6T>C (n.1156-6T>C)
c.481-6T>C
c.994-6T>C
c.1290-6T>C
c.1060-6T>C (n.1060-6T>C)
n.2151-6T>C
c.864-6T>C
c.593-6T>C
c.1060-6T>C
c.1318-6T>C (n.1318-6T>C)
n.1106-6T>C
c.914-6T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137103T>GCA1242501978SPASTc.*1074-6T>G (n.*1074-6T>G)
c.1414-6T>G (n.1414-6T>G)
c.1411-6T>G (n.1411-6T>G)
c.1151-6T>G
c.1315-6T>G (n.1315-6T>G)
c.1188-6T>G
c.1156-6T>G (n.1156-6T>G)
c.481-6T>G
c.994-6T>G
c.1290-6T>G
c.1060-6T>G (n.1060-6T>G)
n.2151-6T>G
c.864-6T>G
c.593-6T>G
c.1060-6T>G
c.1318-6T>G (n.1318-6T>G)
n.1106-6T>G
c.914-6T>G
 dbSNP
2g.32137103T=CA1242501976SPASTc.*1074-6T= (n.*1074-6T=)
c.1414-6T= (n.1414-6T=)
c.1411-6T= (n.1411-6T=)
c.1151-6T=
c.1315-6T= (n.1315-6T=)
c.1188-6T=
c.1156-6T= (n.1156-6T=)
c.481-6T=
c.994-6T=
c.1290-6T=
c.1060-6T= (n.1060-6T=)
n.2151-6T=
c.864-6T=
c.593-6T=
c.1060-6T=
c.1318-6T= (n.1318-6T=)
n.1106-6T=
c.914-6T=
2g.32137105G>ACA1600898SPASTc.*1074-4G>A (n.*1074-4G>A)
c.1414-4G>A (n.1414-4G>A)
c.1411-4G>A (n.1411-4G>A)
c.1151-4G>A
c.1315-4G>A (n.1315-4G>A)
c.1188-4G>A
c.1156-4G>A (n.1156-4G>A)
c.481-4G>A
c.994-4G>A
c.1290-4G>A
c.1060-4G>A (n.1060-4G>A)
n.2151-4G>A
c.864-4G>A
c.593-4G>A
c.1060-4G>A
c.1318-4G>A (n.1318-4G>A)
n.1106-4G>A
c.914-4G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32137105G>CCA2576930459SPASTc.*1074-4G>C (n.*1074-4G>C)
c.1414-4G>C (n.1414-4G>C)
c.1411-4G>C (n.1411-4G>C)
c.1151-4G>C
c.1315-4G>C (n.1315-4G>C)
c.1188-4G>C
c.1156-4G>C (n.1156-4G>C)
c.481-4G>C
c.994-4G>C
c.1290-4G>C
c.1060-4G>C (n.1060-4G>C)
n.2151-4G>C
c.864-4G>C
c.593-4G>C
c.1060-4G>C
c.1318-4G>C (n.1318-4G>C)
n.1106-4G>C
c.914-4G>C
2g.32137105G=CA1242501980SPASTc.*1074-4G= (n.*1074-4G=)
c.1414-4G= (n.1414-4G=)
c.1411-4G= (n.1411-4G=)
c.1151-4G=
c.1315-4G= (n.1315-4G=)
c.1188-4G=
c.1156-4G= (n.1156-4G=)
c.481-4G=
c.994-4G=
c.1290-4G=
c.1060-4G= (n.1060-4G=)
n.2151-4G=
c.864-4G=
c.593-4G=
c.1060-4G=
c.1318-4G= (n.1318-4G=)
n.1106-4G=
c.914-4G=
2g.32137107A=CA1242501983SPASTc.*1074-2A= (n.*1074-2A=)
c.1414-2A= (n.1414-2A=)
c.1411-2A= (n.1411-2A=)
c.1151-2A=
c.1315-2A= (n.1315-2A=)
c.1188-2A=
c.1156-2A= (n.1156-2A=)
c.481-2A=
c.994-2A=
c.1290-2A=
c.1060-2A= (n.1060-2A=)
n.2151-2A=
c.864-2A=
c.593-2A=
c.1060-2A=
c.1318-2A= (n.1318-2A=)
n.1106-2A=
c.914-2A=
2g.32137107A>CCA346502373SPASTc.*1074-2A>C (n.*1074-2A>C)
c.1414-2A>C (n.1414-2A>C)
c.1411-2A>C (n.1411-2A>C)
c.1151-2A>C
c.1315-2A>C (n.1315-2A>C)
c.1188-2A>C
c.1156-2A>C (n.1156-2A>C)
c.481-2A>C
c.994-2A>C
c.1290-2A>C
c.1060-2A>C (n.1060-2A>C)
n.2151-2A>C
c.864-2A>C
c.593-2A>C
c.1060-2A>C
c.1318-2A>C (n.1318-2A>C)
n.1106-2A>C
c.914-2A>C
2g.32137107A>GCA346502374SPASTc.*1074-2A>G (n.*1074-2A>G)
c.1414-2A>G (n.1414-2A>G)
c.1411-2A>G (n.1411-2A>G)
c.1151-2A>G
c.1315-2A>G (n.1315-2A>G)
c.1188-2A>G
c.1156-2A>G (n.1156-2A>G)
c.481-2A>G
c.994-2A>G
c.1290-2A>G
c.1060-2A>G (n.1060-2A>G)
n.2151-2A>G
c.864-2A>G
c.593-2A>G
c.1060-2A>G
c.1318-2A>G (n.1318-2A>G)
n.1106-2A>G
c.914-2A>G
 ClinVar dbSNP
2g.32137107A>TCA346502375SPASTc.*1074-2A>T (n.*1074-2A>T)
c.1414-2A>T (n.1414-2A>T)
c.1411-2A>T (n.1411-2A>T)
c.1151-2A>T
c.1315-2A>T (n.1315-2A>T)
c.1188-2A>T
c.1156-2A>T (n.1156-2A>T)
c.481-2A>T
c.994-2A>T
c.1290-2A>T
c.1060-2A>T (n.1060-2A>T)
n.2151-2A>T
c.864-2A>T
c.593-2A>T
c.1060-2A>T
c.1318-2A>T (n.1318-2A>T)
n.1106-2A>T
c.914-2A>T
 ClinVar dbSNP
2g.32137108G>ACA346502376SPASTc.*1074-1G>A (n.*1074-1G>A)
c.1414-1G>A (n.1414-1G>A)
c.1411-1G>A (n.1411-1G>A)
c.1151-1G>A
c.1315-1G>A (n.1315-1G>A)
c.1188-1G>A
c.1156-1G>A (n.1156-1G>A)
c.481-1G>A
c.994-1G>A
c.1290-1G>A
c.1060-1G>A (n.1060-1G>A)
n.2151-1G>A
c.864-1G>A
c.593-1G>A
c.1060-1G>A
c.1318-1G>A (n.1318-1G>A)
n.1106-1G>A
c.914-1G>A
 dbSNP
2g.32137108G>CCA334385SPASTc.*1074-1G>C (n.*1074-1G>C)
c.1414-1G>C (n.1414-1G>C)
c.1411-1G>C (n.1411-1G>C)
c.1151-1G>C
c.1315-1G>C (n.1315-1G>C)
c.1188-1G>C
c.1156-1G>C (n.1156-1G>C)
c.481-1G>C
c.994-1G>C
c.1290-1G>C
c.1060-1G>C (n.1060-1G>C)
n.2151-1G>C
c.864-1G>C
c.593-1G>C
c.1060-1G>C
c.1318-1G>C (n.1318-1G>C)
n.1106-1G>C
c.914-1G>C
 ClinVar dbSNP
2g.32137108G=CA1242501988SPASTc.*1074-1G= (n.*1074-1G=)
c.1414-1G= (n.1414-1G=)
c.1411-1G= (n.1411-1G=)
c.1151-1G=
c.1315-1G= (n.1315-1G=)
c.1188-1G=
c.1156-1G= (n.1156-1G=)
c.481-1G=
c.994-1G=
c.1290-1G=
c.1060-1G= (n.1060-1G=)
n.2151-1G=
c.864-1G=
c.593-1G=
c.1060-1G=
c.1318-1G= (n.1318-1G=)
n.1106-1G=
c.914-1G=
2g.32137108G>TCA346502377SPASTc.*1074-1G>T (n.*1074-1G>T)
c.1414-1G>T (n.1414-1G>T)
c.1411-1G>T (n.1411-1G>T)
c.1151-1G>T
c.1315-1G>T (n.1315-1G>T)
c.1188-1G>T
c.1156-1G>T (n.1156-1G>T)
c.481-1G>T
c.994-1G>T
c.1290-1G>T
c.1060-1G>T (n.1060-1G>T)
n.2151-1G>T
c.864-1G>T
c.593-1G>T
c.1060-1G>T
c.1318-1G>T (n.1318-1G>T)
n.1106-1G>T
c.914-1G>T
2g.32137109G>ACA346502378SPASTc.*1074G>A (n.*1074G>A)
c.1414G>A (p.Val472Ile)
c.1411G>A (p.Val471Ile)
c.1151G>A
c.1315G>A (p.Val439Ile)
c.1188G>A
c.1156G>A (p.Val386Ile)
c.481G>A
c.994G>A
c.1290G>A
c.1060G>A (p.Val354Ile)
n.2151G>A
c.864G>A
c.593G>A
c.1060G>A
c.1318G>A (p.Val440Ile)
n.1106G>A
c.914G>A
2g.32137109G>CCA346502379SPASTc.*1074G>C (n.*1074G>C)
c.1414G>C (p.Val472Leu)
c.1411G>C (p.Val471Leu)
c.1151G>C
c.1315G>C (p.Val439Leu)
c.1188G>C
c.1156G>C (p.Val386Leu)
c.481G>C
c.994G>C
c.1290G>C
c.1060G>C (p.Val354Leu)
n.2151G>C
c.864G>C
c.593G>C
c.1060G>C
c.1318G>C (p.Val440Leu)
n.1106G>C
c.914G>C
2g.32137109G>TCA346502380SPASTc.*1074G>T (n.*1074G>T)
c.1414G>T (p.Val472Leu)
c.1411G>T (p.Val471Leu)
c.1151G>T
c.1315G>T (p.Val439Leu)
c.1188G>T
c.1156G>T (p.Val386Leu)
c.481G>T
c.994G>T
c.1290G>T
c.1060G>T (p.Val354Leu)
n.2151G>T
c.864G>T
c.593G>T
c.1060G>T
c.1318G>T (p.Val440Leu)
n.1106G>T
c.914G>T
2g.32137110T>ACA346502381SPASTc.*1075T>A (n.*1075T>A)
c.1415T>A (p.Val472Glu)
c.1412T>A (p.Val471Glu)
c.1152T>A
c.1316T>A (p.Val439Glu)
c.1189T>A
c.1157T>A (p.Val386Glu)
c.482T>A
c.995T>A
c.1291T>A
c.1061T>A (p.Val354Glu)
n.2152T>A
c.865T>A
c.594T>A
c.1061T>A
c.1319T>A (p.Val440Glu)
n.1107T>A
c.915T>A
2g.32137110T>CCA346502383SPASTc.*1075T>C (n.*1075T>C)
c.1415T>C (p.Val472Ala)
c.1412T>C (p.Val471Ala)
c.1152T>C
c.1316T>C (p.Val439Ala)
c.1189T>C
c.1157T>C (p.Val386Ala)
c.482T>C
c.995T>C
c.1291T>C
c.1061T>C (p.Val354Ala)
n.2152T>C
c.865T>C
c.594T>C
c.1061T>C
c.1319T>C (p.Val440Ala)
n.1107T>C
c.915T>C
2g.32137110T>GCA346502382SPASTc.*1075T>G (n.*1075T>G)
c.1415T>G (p.Val472Gly)
c.1412T>G (p.Val471Gly)
c.1152T>G
c.1316T>G (p.Val439Gly)
c.1189T>G
c.1157T>G (p.Val386Gly)
c.482T>G
c.995T>G
c.1291T>G
c.1061T>G (p.Val354Gly)
n.2152T>G
c.865T>G
c.594T>G
c.1061T>G
c.1319T>G (p.Val440Gly)
n.1107T>G
c.915T>G
 ClinVar
2g.32137111A>CCA425449169SPASTc.*1076A>C (n.*1076A>C)
c.1416A>C (p.Val472=)
c.1413A>C (p.Val471=)
c.1153A>C
c.1317A>C (p.Val439=)
c.1190A>C
c.1158A>C (p.Val386=)
c.483A>C
c.996A>C
c.1292A>C
c.1062A>C (p.Val354=)
n.2153A>C
c.866A>C
c.595A>C
c.1062A>C
c.1320A>C (p.Val440=)
n.1108A>C
c.916A>C
2g.32137111A>GCA425449170SPASTc.*1076A>G (n.*1076A>G)
c.1416A>G (p.Val472=)
c.1413A>G (p.Val471=)
c.1153A>G
c.1317A>G (p.Val439=)
c.1190A>G
c.1158A>G (p.Val386=)
c.483A>G
c.996A>G
c.1292A>G
c.1062A>G (p.Val354=)
n.2153A>G
c.866A>G
c.595A>G
c.1062A>G
c.1320A>G (p.Val440=)
n.1108A>G
c.916A>G
2g.32137111A>TCA425449171SPASTc.*1076A>T (n.*1076A>T)
c.1416A>T (p.Val472=)
c.1413A>T (p.Val471=)
c.1153A>T
c.1317A>T (p.Val439=)
c.1190A>T
c.1158A>T (p.Val386=)
c.483A>T
c.996A>T
c.1292A>T
c.1062A>T (p.Val354=)
n.2153A>T
c.866A>T
c.595A>T
c.1062A>T
c.1320A>T (p.Val440=)
n.1108A>T
c.916A>T
2g.32137112C>ACA1600899SPASTc.*1077C>A (n.*1077C>A)
c.1417C>A (p.Gln473Lys)
c.1414C>A (p.Gln472Lys)
c.1154C>A
c.1318C>A (p.Gln440Lys)
c.1191C>A
c.1159C>A (p.Gln387Lys)
c.484C>A
c.997C>A
c.1293C>A
c.1063C>A (p.Gln355Lys)
n.2154C>A
c.867C>A
c.596C>A
c.1063C>A
c.1321C>A (p.Gln441Lys)
n.1109C>A
c.917C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137112C=CA1242501996SPASTc.*1077C= (n.*1077C=)
c.1417C= (p.Gln473=)
c.1414C= (p.Gln472=)
c.1154C=
c.1318C= (p.Gln440=)
c.1191C=
c.1159C= (p.Gln387=)
c.484C=
c.997C=
c.1293C=
c.1063C= (p.Gln355=)
n.2154C=
c.867C=
c.596C=
c.1063C=
c.1321C= (p.Gln441=)
n.1109C=
c.917C=
2g.32137112C>GCA346502384SPASTc.*1077C>G (n.*1077C>G)
c.1417C>G (p.Gln473Glu)
c.1414C>G (p.Gln472Glu)
c.1154C>G
c.1318C>G (p.Gln440Glu)
c.1191C>G
c.1159C>G (p.Gln387Glu)
c.484C>G
c.997C>G
c.1293C>G
c.1063C>G (p.Gln355Glu)
n.2154C>G
c.867C>G
c.596C>G
c.1063C>G
c.1321C>G (p.Gln441Glu)
n.1109C>G
c.917C>G
2g.32137112C>TCA337296SPASTc.*1077C>T (n.*1077C>T)
c.1417C>T (p.Gln473Ter)
c.1414C>T (p.Gln472Ter)
c.1154C>T
c.1318C>T (p.Gln440Ter)
c.1191C>T
c.1159C>T (p.Gln387Ter)
c.484C>T
c.997C>T
c.1293C>T
c.1063C>T (p.Gln355Ter)
n.2154C>T
c.867C>T
c.596C>T
c.1063C>T
c.1321C>T (p.Gln441Ter)
n.1109C>T
c.917C>T
 ClinVar dbSNP
2g.32137113A=CA1242502008SPASTc.*1078A= (n.*1078A=)
c.1418A= (p.Gln473=)
c.1415A= (p.Gln472=)
c.1155A=
c.1319A= (p.Gln440=)
c.1192A=
c.1160A= (p.Gln387=)
c.485A=
c.998A=
c.1294A=
c.1064A= (p.Gln355=)
n.2155A=
c.868A=
c.597A=
c.1064A=
c.1322A= (p.Gln441=)
n.1110A=
c.918A=
2g.32137113A>CCA346502385SPASTc.*1078A>C (n.*1078A>C)
c.1418A>C (p.Gln473Pro)
c.1415A>C (p.Gln472Pro)
c.1155A>C
c.1319A>C (p.Gln440Pro)
c.1192A>C
c.1160A>C (p.Gln387Pro)
c.485A>C
c.998A>C
c.1294A>C
c.1064A>C (p.Gln355Pro)
n.2155A>C
c.868A>C
c.597A>C
c.1064A>C
c.1322A>C (p.Gln441Pro)
n.1110A>C
c.918A>C
2g.32137113A>GCA346502386SPASTc.*1078A>G (n.*1078A>G)
c.1418A>G (p.Gln473Arg)
c.1415A>G (p.Gln472Arg)
c.1155A>G
c.1319A>G (p.Gln440Arg)
c.1192A>G
c.1160A>G (p.Gln387Arg)
c.485A>G
c.998A>G
c.1294A>G
c.1064A>G (p.Gln355Arg)
n.2155A>G
c.868A>G
c.597A>G
c.1064A>G
c.1322A>G (p.Gln441Arg)
n.1110A>G
c.918A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32137113A>TCA346502387SPASTc.*1078A>T (n.*1078A>T)
c.1418A>T (p.Gln473Leu)
c.1415A>T (p.Gln472Leu)
c.1155A>T
c.1319A>T (p.Gln440Leu)
c.1192A>T
c.1160A>T (p.Gln387Leu)
c.485A>T
c.998A>T
c.1294A>T
c.1064A>T (p.Gln355Leu)
n.2155A>T
c.868A>T
c.597A>T
c.1064A>T
c.1322A>T (p.Gln441Leu)
n.1110A>T
c.918A>T
2g.32137113_32137126delCA2586964774SPASTc.*1078_*1091del (n.*1078_*1091del)
c.1418_1431del (p.Gln473ArgfsTer10)
c.1415_1428del (p.Gln472ArgfsTer10)
c.1155_1168del
c.1319_1332del (p.Gln440ArgfsTer10)
c.1192_1205del
c.1160_1173del (p.Gln387ArgfsTer10)
c.485_498del
c.998_1011del
c.1294_1307del
c.1064_1077del (p.Gln355ArgfsTer10)
n.2155_2168del
c.868_881del
c.597_610del
c.1064_1077del
c.1322_1335del (p.Gln441ArgfsTer10)
n.1110_1123del
c.918_931del
2g.32137114G>ACA1600900SPASTc.*1079G>A (n.*1079G>A)
c.1419G>A (p.Gln473=)
c.1416G>A (p.Gln472=)
c.1156G>A
c.1320G>A (p.Gln440=)
c.1193G>A
c.1161G>A (p.Gln387=)
c.486G>A
c.999G>A
c.1295G>A
c.1065G>A (p.Gln355=)
n.2156G>A
c.869G>A
c.598G>A
c.1065G>A
c.1323G>A (p.Gln441=)
n.1111G>A
c.919G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137114G>CCA44750134SPASTc.*1079G>C (n.*1079G>C)
c.1419G>C (p.Gln473His)
c.1416G>C (p.Gln472His)
c.1156G>C
c.1320G>C (p.Gln440His)
c.1193G>C
c.1161G>C (p.Gln387His)
c.486G>C
c.999G>C
c.1295G>C
c.1065G>C (p.Gln355His)
n.2156G>C
c.869G>C
c.598G>C
c.1065G>C
c.1323G>C (p.Gln441His)
n.1111G>C
c.919G>C
 dbSNP
2g.32137114G=CA1242502012SPASTc.*1079G= (n.*1079G=)
c.1419G= (p.Gln473=)
c.1416G= (p.Gln472=)
c.1156G=
c.1320G= (p.Gln440=)
c.1193G=
c.1161G= (p.Gln387=)
c.486G=
c.999G=
c.1295G=
c.1065G= (p.Gln355=)
n.2156G=
c.869G=
c.598G=
c.1065G=
c.1323G= (p.Gln441=)
n.1111G=
c.919G=
2g.32137114G>TCA346502388SPASTc.*1079G>T (n.*1079G>T)
c.1419G>T (p.Gln473His)
c.1416G>T (p.Gln472His)
c.1156G>T
c.1320G>T (p.Gln440His)
c.1193G>T
c.1161G>T (p.Gln387His)
c.486G>T
c.999G>T
c.1295G>T
c.1065G>T (p.Gln355His)
n.2156G>T
c.869G>T
c.598G>T
c.1065G>T
c.1323G>T (p.Gln441His)
n.1111G>T
c.919G>T
2g.32137115T>ACA346502389SPASTc.*1080T>A (n.*1080T>A)
c.1420T>A (p.Ser474Thr)
c.1417T>A (p.Ser473Thr)
c.1157T>A
c.1321T>A (p.Ser441Thr)
c.1194T>A
c.1162T>A (p.Ser388Thr)
c.487T>A
c.1000T>A
c.1296T>A
c.1066T>A (p.Ser356Thr)
n.2157T>A
c.870T>A
c.599T>A
c.1066T>A
c.1324T>A (p.Ser442Thr)
n.1112T>A
c.920T>A
2g.32137115T>CCA346502390SPASTc.*1080T>C (n.*1080T>C)
c.1420T>C (p.Ser474Pro)
c.1417T>C (p.Ser473Pro)
c.1157T>C
c.1321T>C (p.Ser441Pro)
c.1194T>C
c.1162T>C (p.Ser388Pro)
c.487T>C
c.1000T>C
c.1296T>C
c.1066T>C (p.Ser356Pro)
n.2157T>C
c.870T>C
c.599T>C
c.1066T>C
c.1324T>C (p.Ser442Pro)
n.1112T>C
c.920T>C
 gnomAD v4
2g.32137115T>GCA346502391SPASTc.*1080T>G (n.*1080T>G)
c.1420T>G (p.Ser474Ala)
c.1417T>G (p.Ser473Ala)
c.1157T>G
c.1321T>G (p.Ser441Ala)
c.1194T>G
c.1162T>G (p.Ser388Ala)
c.487T>G
c.1000T>G
c.1296T>G
c.1066T>G (p.Ser356Ala)
n.2157T>G
c.870T>G
c.599T>G
c.1066T>G
c.1324T>G (p.Ser442Ala)
n.1112T>G
c.920T>G
2g.32137116C>ACA346502394SPASTc.*1081C>A (n.*1081C>A)
c.1421C>A (p.Ser474Tyr)
c.1418C>A (p.Ser473Tyr)
c.1158C>A
c.1322C>A (p.Ser441Tyr)
c.1195C>A
c.1163C>A (p.Ser388Tyr)
c.488C>A
c.1001C>A
c.1297C>A
c.1067C>A (p.Ser356Tyr)
n.2158C>A
c.871C>A
c.600C>A
c.1067C>A
c.1325C>A (p.Ser442Tyr)
n.1113C>A
c.921C>A
2g.32137116C>GCA346502393SPASTc.*1081C>G (n.*1081C>G)
c.1421C>G (p.Ser474Cys)
c.1418C>G (p.Ser473Cys)
c.1158C>G
c.1322C>G (p.Ser441Cys)
c.1195C>G
c.1163C>G (p.Ser388Cys)
c.488C>G
c.1001C>G
c.1297C>G
c.1067C>G (p.Ser356Cys)
n.2158C>G
c.871C>G
c.600C>G
c.1067C>G
c.1325C>G (p.Ser442Cys)
n.1113C>G
c.921C>G
2g.32137116C>TCA346502392SPASTc.*1081C>T (n.*1081C>T)
c.1421C>T (p.Ser474Phe)
c.1418C>T (p.Ser473Phe)
c.1158C>T
c.1322C>T (p.Ser441Phe)
c.1195C>T
c.1163C>T (p.Ser388Phe)
c.488C>T
c.1001C>T
c.1297C>T
c.1067C>T (p.Ser356Phe)
n.2158C>T
c.871C>T
c.600C>T
c.1067C>T
c.1325C>T (p.Ser442Phe)
n.1113C>T
c.921C>T
2g.32137117T>ACA425449172SPASTc.*1082T>A (n.*1082T>A)
c.1422T>A (p.Ser474=)
c.1419T>A (p.Ser473=)
c.1159T>A
c.1323T>A (p.Ser441=)
c.1196T>A
c.1164T>A (p.Ser388=)
c.489T>A
c.1002T>A
c.1298T>A
c.1068T>A (p.Ser356=)
n.2159T>A
c.872T>A
c.601T>A
c.1068T>A
c.1326T>A (p.Ser442=)
n.1114T>A
c.922T>A
 gnomAD v4
2g.32137117T>CCA425449173SPASTc.*1082T>C (n.*1082T>C)
c.1422T>C (p.Ser474=)
c.1419T>C (p.Ser473=)
c.1159T>C
c.1323T>C (p.Ser441=)
c.1196T>C
c.1164T>C (p.Ser388=)
c.489T>C
c.1002T>C
c.1298T>C
c.1068T>C (p.Ser356=)
n.2159T>C
c.872T>C
c.601T>C
c.1068T>C
c.1326T>C (p.Ser442=)
n.1114T>C
c.922T>C
2g.32137117T>GCA425449174SPASTc.*1082T>G (n.*1082T>G)
c.1422T>G (p.Ser474=)
c.1419T>G (p.Ser473=)
c.1159T>G
c.1323T>G (p.Ser441=)
c.1196T>G
c.1164T>G (p.Ser388=)
c.489T>G
c.1002T>G
c.1298T>G
c.1068T>G (p.Ser356=)
n.2159T>G
c.872T>G
c.601T>G
c.1068T>G
c.1326T>G (p.Ser442=)
n.1114T>G
c.922T>G
2g.32137118G>ACA346502395SPASTc.*1083G>A (n.*1083G>A)
c.1423G>A (p.Ala475Thr)
c.1420G>A (p.Ala474Thr)
c.1160G>A
c.1324G>A (p.Ala442Thr)
c.1197G>A
c.1165G>A (p.Ala389Thr)
c.490G>A
c.1003G>A
c.1299G>A
c.1069G>A (p.Ala357Thr)
n.2160G>A
c.873G>A
c.602G>A
c.1069G>A
c.1327G>A (p.Ala443Thr)
n.1115G>A
c.923G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32137118G>CCA346502396SPASTc.*1083G>C (n.*1083G>C)
c.1423G>C (p.Ala475Pro)
c.1420G>C (p.Ala474Pro)
c.1160G>C
c.1324G>C (p.Ala442Pro)
c.1197G>C
c.1165G>C (p.Ala389Pro)
c.490G>C
c.1003G>C
c.1299G>C
c.1069G>C (p.Ala357Pro)
n.2160G>C
c.873G>C
c.602G>C
c.1069G>C
c.1327G>C (p.Ala443Pro)
n.1115G>C
c.923G>C
2g.32137118G=CA1242502015SPASTc.*1083G= (n.*1083G=)
c.1423G= (p.Ala475=)
c.1420G= (p.Ala474=)
c.1160G=
c.1324G= (p.Ala442=)
c.1197G=
c.1165G= (p.Ala389=)
c.490G=
c.1003G=
c.1299G=
c.1069G= (p.Ala357=)
n.2160G=
c.873G=
c.602G=
c.1069G=
c.1327G= (p.Ala443=)
n.1115G=
c.923G=
2g.32137118G>TCA346502397SPASTc.*1083G>T (n.*1083G>T)
c.1423G>T (p.Ala475Ser)
c.1420G>T (p.Ala474Ser)
c.1160G>T
c.1324G>T (p.Ala442Ser)
c.1197G>T
c.1165G>T (p.Ala389Ser)
c.490G>T
c.1003G>T
c.1299G>T
c.1069G>T (p.Ala357Ser)
n.2160G>T
c.873G>T
c.602G>T
c.1069G>T
c.1327G>T (p.Ala443Ser)
n.1115G>T
c.923G>T
 gnomAD v4
2g.32137119C>ACA346502398SPASTc.*1084C>A (n.*1084C>A)
c.1424C>A (p.Ala475Asp)
c.1421C>A (p.Ala474Asp)
c.1161C>A
c.1325C>A (p.Ala442Asp)
c.1198C>A
c.1166C>A (p.Ala389Asp)
c.491C>A
c.1004C>A
c.1300C>A
c.1070C>A (p.Ala357Asp)
n.2161C>A
c.874C>A
c.603C>A
c.1070C>A
c.1328C>A (p.Ala443Asp)
n.1116C>A
c.924C>A
2g.32137119C=CA1242502020SPASTc.*1084C= (n.*1084C=)
c.1424C= (p.Ala475=)
c.1421C= (p.Ala474=)
c.1161C=
c.1325C= (p.Ala442=)
c.1198C=
c.1166C= (p.Ala389=)
c.491C=
c.1004C=
c.1300C=
c.1070C= (p.Ala357=)
n.2161C=
c.874C=
c.603C=
c.1070C=
c.1328C= (p.Ala443=)
n.1116C=
c.924C=
2g.32137119C>GCA346502399SPASTc.*1084C>G (n.*1084C>G)
c.1424C>G (p.Ala475Gly)
c.1421C>G (p.Ala474Gly)
c.1161C>G
c.1325C>G (p.Ala442Gly)
c.1198C>G
c.1166C>G (p.Ala389Gly)
c.491C>G
c.1004C>G
c.1300C>G
c.1070C>G (p.Ala357Gly)
n.2161C>G
c.874C>G
c.603C>G
c.1070C>G
c.1328C>G (p.Ala443Gly)
n.1116C>G
c.924C>G
2g.32137119C>TCA1600901SPASTc.*1084C>T (n.*1084C>T)
c.1424C>T (p.Ala475Val)
c.1421C>T (p.Ala474Val)
c.1161C>T
c.1325C>T (p.Ala442Val)
c.1198C>T
c.1166C>T (p.Ala389Val)
c.491C>T
c.1004C>T
c.1300C>T
c.1070C>T (p.Ala357Val)
n.2161C>T
c.874C>T
c.603C>T
c.1070C>T
c.1328C>T (p.Ala443Val)
n.1116C>T
c.924C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32137120T>ACA425449176SPASTc.*1085T>A (n.*1085T>A)
c.1425T>A (p.Ala475=)
c.1422T>A (p.Ala474=)
c.1162T>A
c.1326T>A (p.Ala442=)
c.1199T>A
c.1167T>A (p.Ala389=)
c.492T>A
c.1005T>A
c.1301T>A
c.1071T>A (p.Ala357=)
n.2162T>A
c.875T>A
c.604T>A
c.1071T>A
c.1329T>A (p.Ala443=)
n.1117T>A
c.925T>A
2g.32137120T>CCA425449177SPASTc.*1085T>C (n.*1085T>C)
c.1425T>C (p.Ala475=)
c.1422T>C (p.Ala474=)
c.1162T>C
c.1326T>C (p.Ala442=)
c.1199T>C
c.1167T>C (p.Ala389=)
c.492T>C
c.1005T>C
c.1301T>C
c.1071T>C (p.Ala357=)
n.2162T>C
c.875T>C
c.604T>C
c.1071T>C
c.1329T>C (p.Ala443=)
n.1117T>C
c.925T>C
2g.32137120T>GCA425449178SPASTc.*1085T>G (n.*1085T>G)
c.1425T>G (p.Ala475=)
c.1422T>G (p.Ala474=)
c.1162T>G
c.1326T>G (p.Ala442=)
c.1199T>G
c.1167T>G (p.Ala389=)
c.492T>G
c.1005T>G
c.1301T>G
c.1071T>G (p.Ala357=)
n.2162T>G
c.875T>G
c.604T>G
c.1071T>G
c.1329T>G (p.Ala443=)
n.1117T>G
c.925T>G
2g.32137121G>ACA346502400SPASTc.*1086G>A (n.*1086G>A)
c.1426G>A (p.Gly476Arg)
c.1423G>A (p.Gly475Arg)
c.1163G>A
c.1327G>A (p.Gly443Arg)
c.1200G>A
c.1168G>A (p.Gly390Arg)
c.493G>A
c.1006G>A
c.1302G>A
c.1072G>A (p.Gly358Arg)
n.2163G>A
c.876G>A
c.605G>A
c.1072G>A
c.1330G>A (p.Gly444Arg)
n.1118G>A
c.926G>A
 dbSNP
2g.32137121G>CCA346502401SPASTc.*1086G>C (n.*1086G>C)
c.1426G>C (p.Gly476Arg)
c.1423G>C (p.Gly475Arg)
c.1163G>C
c.1327G>C (p.Gly443Arg)
c.1200G>C
c.1168G>C (p.Gly390Arg)
c.493G>C
c.1006G>C
c.1302G>C
c.1072G>C (p.Gly358Arg)
n.2163G>C
c.876G>C
c.605G>C
c.1072G>C
c.1330G>C (p.Gly444Arg)
n.1118G>C
c.926G>C
2g.32137121G=CA1242502023SPASTc.*1086G= (n.*1086G=)
c.1426G= (p.Gly476=)
c.1423G= (p.Gly475=)
c.1163G=
c.1327G= (p.Gly443=)
c.1200G=
c.1168G= (p.Gly390=)
c.493G=
c.1006G=
c.1302G=
c.1072G= (p.Gly358=)
n.2163G=
c.876G=
c.605G=
c.1072G=
c.1330G= (p.Gly444=)
n.1118G=
c.926G=
2g.32137121G>TCA346502402SPASTc.*1086G>T (n.*1086G>T)
c.1426G>T (p.Gly476Ter)
c.1423G>T (p.Gly475Ter)
c.1163G>T
c.1327G>T (p.Gly443Ter)
c.1200G>T
c.1168G>T (p.Gly390Ter)
c.493G>T
c.1006G>T
c.1302G>T
c.1072G>T (p.Gly358Ter)
n.2163G>T
c.876G>T
c.605G>T
c.1072G>T
c.1330G>T (p.Gly444Ter)
n.1118G>T
c.926G>T
2g.32137121_32137122delCA2586964775SPASTc.*1086_*1087del (n.*1086_*1087del)
c.1426_1427del (p.Gly476ArgfsTer2)
c.1423_1424del (p.Gly475ArgfsTer2)
c.1163_1164del
c.1327_1328del (p.Gly443ArgfsTer2)
c.1200_1201del
c.1168_1169del (p.Gly390ArgfsTer2)
c.493_494del
c.1006_1007del
c.1302_1303del
c.1072_1073del (p.Gly358ArgfsTer2)
n.2163_2164del
c.876_877del
c.605_606del
c.1072_1073del
c.1330_1331del (p.Gly444ArgfsTer2)
n.1118_1119del
c.926_927del
2g.32137122G>ACA346502403SPASTc.*1087G>A (n.*1087G>A)
c.1427G>A (p.Gly476Glu)
c.1424G>A (p.Gly475Glu)
c.1164G>A
c.1328G>A (p.Gly443Glu)
c.1201G>A
c.1169G>A (p.Gly390Glu)
c.494G>A
c.1007G>A
c.1303G>A
c.1073G>A (p.Gly358Glu)
n.2164G>A
c.877G>A
c.606G>A
c.1073G>A
c.1331G>A (p.Gly444Glu)
n.1119G>A
c.927G>A
2g.32137122G>CCA346502404SPASTc.*1087G>C (n.*1087G>C)
c.1427G>C (p.Gly476Ala)
c.1424G>C (p.Gly475Ala)
c.1164G>C
c.1328G>C (p.Gly443Ala)
c.1201G>C
c.1169G>C (p.Gly390Ala)
c.494G>C
c.1007G>C
c.1303G>C
c.1073G>C (p.Gly358Ala)
n.2164G>C
c.877G>C
c.606G>C
c.1073G>C
c.1331G>C (p.Gly444Ala)
n.1119G>C
c.927G>C
2g.32137122G>TCA346502405SPASTc.*1087G>T (n.*1087G>T)
c.1427G>T (p.Gly476Val)
c.1424G>T (p.Gly475Val)
c.1164G>T
c.1328G>T (p.Gly443Val)
c.1201G>T
c.1169G>T (p.Gly390Val)
c.494G>T
c.1007G>T
c.1303G>T
c.1073G>T (p.Gly358Val)
n.2164G>T
c.877G>T
c.606G>T
c.1073G>T
c.1331G>T (p.Gly444Val)
n.1119G>T
c.927G>T
2g.32137123A>CCA425449179SPASTc.*1088A>C (n.*1088A>C)
c.1428A>C (p.Gly476=)
c.1425A>C (p.Gly475=)
c.1165A>C
c.1329A>C (p.Gly443=)
c.1202A>C
c.1170A>C (p.Gly390=)
c.495A>C
c.1008A>C
c.1304A>C
c.1074A>C (p.Gly358=)
n.2165A>C
c.878A>C
c.607A>C
c.1074A>C
c.1332A>C (p.Gly444=)
n.1120A>C
c.928A>C
2g.32137123A>GCA425449180SPASTc.*1088A>G (n.*1088A>G)
c.1428A>G (p.Gly476=)
c.1425A>G (p.Gly475=)
c.1165A>G
c.1329A>G (p.Gly443=)
c.1202A>G
c.1170A>G (p.Gly390=)
c.495A>G
c.1008A>G
c.1304A>G
c.1074A>G (p.Gly358=)
n.2165A>G
c.878A>G
c.607A>G
c.1074A>G
c.1332A>G (p.Gly444=)
n.1120A>G
c.928A>G
2g.32137123A>TCA425449181SPASTc.*1088A>T (n.*1088A>T)
c.1428A>T (p.Gly476=)
c.1425A>T (p.Gly475=)
c.1165A>T
c.1329A>T (p.Gly443=)
c.1202A>T
c.1170A>T (p.Gly390=)
c.495A>T
c.1008A>T
c.1304A>T
c.1074A>T (p.Gly358=)
n.2165A>T
c.878A>T
c.607A>T
c.1074A>T
c.1332A>T (p.Gly444=)
n.1120A>T
c.928A>T
2g.32137124G>ACA346502406SPASTc.*1089G>A (n.*1089G>A)
c.1429G>A (p.Asp477Asn)
c.1426G>A (p.Asp476Asn)
c.1166G>A
c.1330G>A (p.Asp444Asn)
c.1203G>A
c.1171G>A (p.Asp391Asn)
c.496G>A
c.1009G>A
c.1305G>A
c.1075G>A (p.Asp359Asn)
n.2166G>A
c.879G>A
c.608G>A
c.1075G>A
c.1333G>A (p.Asp445Asn)
n.1121G>A
c.929G>A
2g.32137124G>CCA346502408SPASTc.*1089G>C (n.*1089G>C)
c.1429G>C (p.Asp477His)
c.1426G>C (p.Asp476His)
c.1166G>C
c.1330G>C (p.Asp444His)
c.1203G>C
c.1171G>C (p.Asp391His)
c.496G>C
c.1009G>C
c.1305G>C
c.1075G>C (p.Asp359His)
n.2166G>C
c.879G>C
c.608G>C
c.1075G>C
c.1333G>C (p.Asp445His)
n.1121G>C
c.929G>C
2g.32137124G>TCA346502407SPASTc.*1089G>T (n.*1089G>T)
c.1429G>T (p.Asp477Tyr)
c.1426G>T (p.Asp476Tyr)
c.1166G>T
c.1330G>T (p.Asp444Tyr)
c.1203G>T
c.1171G>T (p.Asp391Tyr)
c.496G>T
c.1009G>T
c.1305G>T
c.1075G>T (p.Asp359Tyr)
n.2166G>T
c.879G>T
c.608G>T
c.1075G>T
c.1333G>T (p.Asp445Tyr)
n.1121G>T
c.929G>T
2g.32137125A>CCA346502409SPASTc.*1090A>C (n.*1090A>C)
c.1430A>C (p.Asp477Ala)
c.1427A>C (p.Asp476Ala)
c.1167A>C
c.1331A>C (p.Asp444Ala)
c.1204A>C
c.1172A>C (p.Asp391Ala)
c.497A>C
c.1010A>C
c.1306A>C
c.1076A>C (p.Asp359Ala)
n.2167A>C
c.880A>C
c.609A>C
c.1076A>C
c.1334A>C (p.Asp445Ala)
n.1122A>C
c.930A>C
2g.32137125A>GCA346502411SPASTc.*1090A>G (n.*1090A>G)
c.1430A>G (p.Asp477Gly)
c.1427A>G (p.Asp476Gly)
c.1167A>G
c.1331A>G (p.Asp444Gly)
c.1204A>G
c.1172A>G (p.Asp391Gly)
c.497A>G
c.1010A>G
c.1306A>G
c.1076A>G (p.Asp359Gly)
n.2167A>G
c.880A>G
c.609A>G
c.1076A>G
c.1334A>G (p.Asp445Gly)
n.1122A>G
c.930A>G
2g.32137125A>TCA346502410SPASTc.*1090A>T (n.*1090A>T)
c.1430A>T (p.Asp477Val)
c.1427A>T (p.Asp476Val)
c.1167A>T
c.1331A>T (p.Asp444Val)
c.1204A>T
c.1172A>T (p.Asp391Val)
c.497A>T
c.1010A>T
c.1306A>T
c.1076A>T (p.Asp359Val)
n.2167A>T
c.880A>T
c.609A>T
c.1076A>T
c.1334A>T (p.Asp445Val)
n.1122A>T
c.930A>T
2g.32137126T>ACA346502412SPASTc.*1091T>A (n.*1091T>A)
c.1431T>A (p.Asp477Glu)
c.1428T>A (p.Asp476Glu)
c.1168T>A
c.1332T>A (p.Asp444Glu)
c.1205T>A
c.1173T>A (p.Asp391Glu)
c.498T>A
c.1011T>A
c.1307T>A
c.1077T>A (p.Asp359Glu)
n.2168T>A
c.881T>A
c.610T>A
c.1077T>A
c.1335T>A (p.Asp445Glu)
n.1123T>A
c.931T>A
2g.32137126T>CCA425449182SPASTc.*1091T>C (n.*1091T>C)
c.1431T>C (p.Asp477=)
c.1428T>C (p.Asp476=)
c.1168T>C
c.1332T>C (p.Asp444=)
c.1205T>C
c.1173T>C (p.Asp391=)
c.498T>C
c.1011T>C
c.1307T>C
c.1077T>C (p.Asp359=)
n.2168T>C
c.881T>C
c.610T>C
c.1077T>C
c.1335T>C (p.Asp445=)
n.1123T>C
c.931T>C
 gnomAD v4
2g.32137126T>GCA346502413SPASTc.*1091T>G (n.*1091T>G)
c.1431T>G (p.Asp477Glu)
c.1428T>G (p.Asp476Glu)
c.1168T>G
c.1332T>G (p.Asp444Glu)
c.1205T>G
c.1173T>G (p.Asp391Glu)
c.498T>G
c.1011T>G
c.1307T>G
c.1077T>G (p.Asp359Glu)
n.2168T>G
c.881T>G
c.610T>G
c.1077T>G
c.1335T>G (p.Asp445Glu)
n.1123T>G
c.931T>G
2g.32137127G>ACA346502414SPASTc.*1092G>A (n.*1092G>A)
c.1432G>A (p.Asp478Asn)
c.1429G>A (p.Asp477Asn)
c.1169G>A
c.1333G>A (p.Asp445Asn)
c.1206G>A
c.1174G>A (p.Asp392Asn)
c.499G>A
c.1012G>A
c.1308G>A
c.1078G>A (p.Asp360Asn)
n.2169G>A
c.882G>A
c.611G>A
c.1078G>A
c.1336G>A (p.Asp446Asn)
n.1124G>A
c.932G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32137127G>CCA346502415SPASTc.*1092G>C (n.*1092G>C)
c.1432G>C (p.Asp478His)
c.1429G>C (p.Asp477His)
c.1169G>C
c.1333G>C (p.Asp445His)
c.1206G>C
c.1174G>C (p.Asp392His)
c.499G>C
c.1012G>C
c.1308G>C
c.1078G>C (p.Asp360His)
n.2169G>C
c.882G>C
c.611G>C
c.1078G>C
c.1336G>C (p.Asp446His)
n.1124G>C
c.932G>C
2g.32137127G=CA1242502027SPASTc.*1092G= (n.*1092G=)
c.1432G= (p.Asp478=)
c.1429G= (p.Asp477=)
c.1169G=
c.1333G= (p.Asp445=)
c.1206G=
c.1174G= (p.Asp392=)
c.499G=
c.1012G=
c.1308G=
c.1078G= (p.Asp360=)
n.2169G=
c.882G=
c.611G=
c.1078G=
c.1336G= (p.Asp446=)
n.1124G=
c.932G=
2g.32137127G>TCA346502416SPASTc.*1092G>T (n.*1092G>T)
c.1432G>T (p.Asp478Tyr)
c.1429G>T (p.Asp477Tyr)
c.1169G>T
c.1333G>T (p.Asp445Tyr)
c.1206G>T
c.1174G>T (p.Asp392Tyr)
c.499G>T
c.1012G>T
c.1308G>T
c.1078G>T (p.Asp360Tyr)
n.2169G>T
c.882G>T
c.611G>T
c.1078G>T
c.1336G>T (p.Asp446Tyr)
n.1124G>T
c.932G>T
2g.32137128A>CCA346502417SPASTc.*1093A>C (n.*1093A>C)
c.1433A>C (p.Asp478Ala)
c.1430A>C (p.Asp477Ala)
c.1170A>C
c.1334A>C (p.Asp445Ala)
c.1207A>C
c.1175A>C (p.Asp392Ala)
c.500A>C
c.1013A>C
c.1309A>C
c.1079A>C (p.Asp360Ala)
n.2170A>C
c.883A>C
c.612A>C
c.1079A>C
c.1337A>C (p.Asp446Ala)
n.1125A>C
c.933A>C
2g.32137128A>GCA346502418SPASTc.*1093A>G (n.*1093A>G)
c.1433A>G (p.Asp478Gly)
c.1430A>G (p.Asp477Gly)
c.1170A>G
c.1334A>G (p.Asp445Gly)
c.1207A>G
c.1175A>G (p.Asp392Gly)
c.500A>G
c.1013A>G
c.1309A>G
c.1079A>G (p.Asp360Gly)
n.2170A>G
c.883A>G
c.612A>G
c.1079A>G
c.1337A>G (p.Asp446Gly)
n.1125A>G
c.933A>G
2g.32137128A>TCA346502419SPASTc.*1093A>T (n.*1093A>T)
c.1433A>T (p.Asp478Val)
c.1430A>T (p.Asp477Val)
c.1170A>T
c.1334A>T (p.Asp445Val)
c.1207A>T
c.1175A>T (p.Asp392Val)
c.500A>T
c.1013A>T
c.1309A>T
c.1079A>T (p.Asp360Val)
n.2170A>T
c.883A>T
c.612A>T
c.1079A>T
c.1337A>T (p.Asp446Val)
n.1125A>T
c.933A>T
 ClinVar dbSNP
2g.32137130_32137136delCA2586964776SPASTc.*1095_*1101del (n.*1095_*1101del)
c.1435_1441del (p.Arg479LeufsTer2)
c.1432_1438del (p.Arg478LeufsTer2)
c.1172_1178del
c.1336_1342del (p.Arg446LeufsTer2)
c.1209_1215del
c.1177_1183del (p.Arg393LeufsTer2)
c.502_508del
c.1015_1021del
c.1311_1317del
c.1081_1087del (p.Arg361LeufsTer2)
n.2172_2178del
c.885_891del
c.614_620del
c.1081_1087del
c.1339_1345del (p.Arg447LeufsTer2)
n.1127_1133del
c.935_941del
2g.32137129C>ACA346502420SPASTc.*1094C>A (n.*1094C>A)
c.1434C>A (p.Asp478Glu)
c.1431C>A (p.Asp477Glu)
c.1171C>A
c.1335C>A (p.Asp445Glu)
c.1208C>A
c.1176C>A (p.Asp392Glu)
c.501C>A
c.1014C>A
c.1310C>A
c.1080C>A (p.Asp360Glu)
n.2171C>A
c.884C>A
c.613C>A
c.1080C>A
c.1338C>A (p.Asp446Glu)
n.1126C>A
c.934C>A
2g.32137129C=CA1242502035SPASTc.*1094C= (n.*1094C=)
c.1434C= (p.Asp478=)
c.1431C= (p.Asp477=)
c.1171C=
c.1335C= (p.Asp445=)
c.1208C=
c.1176C= (p.Asp392=)
c.501C=
c.1014C=
c.1310C=
c.1080C= (p.Asp360=)
n.2171C=
c.884C=
c.613C=
c.1080C=
c.1338C= (p.Asp446=)
n.1126C=
c.934C=
2g.32137129C>GCA346502421SPASTc.*1094C>G (n.*1094C>G)
c.1434C>G (p.Asp478Glu)
c.1431C>G (p.Asp477Glu)
c.1171C>G
c.1335C>G (p.Asp445Glu)
c.1208C>G
c.1176C>G (p.Asp392Glu)
c.501C>G
c.1014C>G
c.1310C>G
c.1080C>G (p.Asp360Glu)
n.2171C>G
c.884C>G
c.613C>G
c.1080C>G
c.1338C>G (p.Asp446Glu)
n.1126C>G
c.934C>G
 dbSNP COSMIC
2g.32137129C>TCA425449183SPASTc.*1094C>T (n.*1094C>T)
c.1434C>T (p.Asp478=)
c.1431C>T (p.Asp477=)
c.1171C>T
c.1335C>T (p.Asp445=)
c.1208C>T
c.1176C>T (p.Asp392=)
c.501C>T
c.1014C>T
c.1310C>T
c.1080C>T (p.Asp360=)
n.2171C>T
c.884C>T
c.613C>T
c.1080C>T
c.1338C>T (p.Asp446=)
n.1126C>T
c.934C>T
2g.32137129_32137131delinsCAGCA1242502038SPASTc.*1094_*1096delinsCAG (n.*1094_*1096delinsCAG)
c.1434_1436delinsCAG (p.Asp478=)
c.1431_1433delinsCAG (p.Asp477=)
c.1171_1173delinsCAG
c.1335_1337delinsCAG (p.Asp445=)
c.1208_1210delinsCAG
c.1176_1178delinsCAG (p.Asp392=)
c.501_503delinsCAG
c.1014_1016delinsCAG
c.1310_1312delinsCAG
c.1080_1082delinsCAG (p.Asp360=)
n.2171_2173delinsCAG
c.884_886delinsCAG
c.613_615delinsCAG
c.1080_1082delinsCAG
c.1338_1340delinsCAG (p.Asp446=)
n.1126_1128delinsCAG
c.934_936delinsCAG
2g.32137130A>CCA425449184SPASTc.*1095A>C (n.*1095A>C)
c.1435A>C (p.Arg479=)
c.1432A>C (p.Arg478=)
c.1172A>C
c.1336A>C (p.Arg446=)
c.1209A>C
c.1177A>C (p.Arg393=)
c.502A>C
c.1015A>C
c.1311A>C
c.1081A>C (p.Arg361=)
n.2172A>C
c.885A>C
c.614A>C
c.1081A>C
c.1339A>C (p.Arg447=)
n.1127A>C
c.935A>C
2g.32137130A>GCA346502422SPASTc.*1095A>G (n.*1095A>G)
c.1435A>G (p.Arg479Gly)
c.1432A>G (p.Arg478Gly)
c.1172A>G
c.1336A>G (p.Arg446Gly)
c.1209A>G
c.1177A>G (p.Arg393Gly)
c.502A>G
c.1015A>G
c.1311A>G
c.1081A>G (p.Arg361Gly)
n.2172A>G
c.885A>G
c.614A>G
c.1081A>G
c.1339A>G (p.Arg447Gly)
n.1127A>G
c.935A>G
2g.32137130A>TCA346502423SPASTc.*1095A>T (n.*1095A>T)
c.1435A>T (p.Arg479Ter)
c.1432A>T (p.Arg478Ter)
c.1172A>T
c.1336A>T (p.Arg446Ter)
c.1209A>T
c.1177A>T (p.Arg393Ter)
c.502A>T
c.1015A>T
c.1311A>T
c.1081A>T (p.Arg361Ter)
n.2172A>T
c.885A>T
c.614A>T
c.1081A>T
c.1339A>T (p.Arg447Ter)
n.1127A>T
c.935A>T
2g.32137130dupCA2658529301SPASTc.*1095dup (n.*1095dup)
c.1435dup (p.Arg479LysfsTer9)
c.1432dup (p.Arg478LysfsTer9)
c.1172dup
c.1336dup (p.Arg446LysfsTer9)
c.1209dup
c.1177dup (p.Arg393LysfsTer9)
c.502dup
c.1015dup
c.1311dup
c.1081dup (p.Arg361LysfsTer9)
n.2172dup
c.885dup
c.614dup
c.1081dup
c.1339dup (p.Arg447LysfsTer9)
n.1127dup
c.935dup
 gnomAD v4
2g.32137132_32137133delCA348291SPASTc.*1097_*1098del (n.*1097_*1098del)
c.1437_1438del (p.Arg479SerfsTer8)
c.1434_1435del (p.Arg478SerfsTer8)
c.1174_1175del
c.1338_1339del (p.Arg446SerfsTer8)
c.1211_1212del
c.1179_1180del (p.Arg393SerfsTer8)
c.504_505del
c.1017_1018del
c.1313_1314del
c.1083_1084del (p.Arg361SerfsTer8)
n.2174_2175del
c.887_888del
c.616_617del
c.1083_1084del
c.1341_1342del (p.Arg447SerfsTer8)
n.1129_1130del
c.937_938del
 ClinVar dbSNP
2g.32137131G>ACA346502424SPASTc.*1096G>A (n.*1096G>A)
c.1436G>A (p.Arg479Lys)
c.1433G>A (p.Arg478Lys)
c.1173G>A
c.1337G>A (p.Arg446Lys)
c.1210G>A
c.1178G>A (p.Arg393Lys)
c.503G>A
c.1016G>A
c.1312G>A
c.1082G>A (p.Arg361Lys)
n.2173G>A
c.886G>A
c.615G>A
c.1082G>A
c.1340G>A (p.Arg447Lys)
n.1128G>A
c.936G>A
2g.32137131G>CCA346502426SPASTc.*1096G>C (n.*1096G>C)
c.1436G>C (p.Arg479Thr)
c.1433G>C (p.Arg478Thr)
c.1173G>C
c.1337G>C (p.Arg446Thr)
c.1210G>C
c.1178G>C (p.Arg393Thr)
c.503G>C
c.1016G>C
c.1312G>C
c.1082G>C (p.Arg361Thr)
n.2173G>C
c.886G>C
c.615G>C
c.1082G>C
c.1340G>C (p.Arg447Thr)
n.1128G>C
c.936G>C
2g.32137131G>TCA346502425SPASTc.*1096G>T (n.*1096G>T)
c.1436G>T (p.Arg479Ile)
c.1433G>T (p.Arg478Ile)
c.1173G>T
c.1337G>T (p.Arg446Ile)
c.1210G>T
c.1178G>T (p.Arg393Ile)
c.503G>T
c.1016G>T
c.1312G>T
c.1082G>T (p.Arg361Ile)
n.2173G>T
c.886G>T
c.615G>T
c.1082G>T
c.1340G>T (p.Arg447Ile)
n.1128G>T
c.936G>T
2g.32137132A>CCA346502427SPASTc.*1097A>C (n.*1097A>C)
c.1437A>C (p.Arg479Ser)
c.1434A>C (p.Arg478Ser)
c.1174A>C
c.1338A>C (p.Arg446Ser)
c.1211A>C
c.1179A>C (p.Arg393Ser)
c.504A>C
c.1017A>C
c.1313A>C
c.1083A>C (p.Arg361Ser)
n.2174A>C
c.887A>C
c.616A>C
c.1083A>C
c.1341A>C (p.Arg447Ser)
n.1129A>C
c.937A>C
2g.32137132A>GCA425449185SPASTc.*1097A>G (n.*1097A>G)
c.1437A>G (p.Arg479=)
c.1434A>G (p.Arg478=)
c.1174A>G
c.1338A>G (p.Arg446=)
c.1211A>G
c.1179A>G (p.Arg393=)
c.504A>G
c.1017A>G
c.1313A>G
c.1083A>G (p.Arg361=)
n.2174A>G
c.887A>G
c.616A>G
c.1083A>G
c.1341A>G (p.Arg447=)
n.1129A>G
c.937A>G
2g.32137132A>TCA346502428SPASTc.*1097A>T (n.*1097A>T)
c.1437A>T (p.Arg479Ser)
c.1434A>T (p.Arg478Ser)
c.1174A>T
c.1338A>T (p.Arg446Ser)
c.1211A>T
c.1179A>T (p.Arg393Ser)
c.504A>T
c.1017A>T
c.1313A>T
c.1083A>T (p.Arg361Ser)
n.2174A>T
c.887A>T
c.616A>T
c.1083A>T
c.1341A>T (p.Arg447Ser)
n.1129A>T
c.937A>T
2g.32137133G>ACA346502429SPASTc.*1098G>A (n.*1098G>A)
c.1438G>A (p.Val480Ile)
c.1435G>A (p.Val479Ile)
c.1175G>A
c.1339G>A (p.Val447Ile)
c.1212G>A
c.1180G>A (p.Val394Ile)
c.505G>A
c.1018G>A
c.1314G>A
c.1084G>A (p.Val362Ile)
n.2175G>A
c.888G>A
c.617G>A
c.1084G>A
c.1342G>A (p.Val448Ile)
n.1130G>A
c.938G>A
2g.32137133G>CCA346502430SPASTc.*1098G>C (n.*1098G>C)
c.1438G>C (p.Val480Leu)
c.1435G>C (p.Val479Leu)
c.1175G>C
c.1339G>C (p.Val447Leu)
c.1212G>C
c.1180G>C (p.Val394Leu)
c.505G>C
c.1018G>C
c.1314G>C
c.1084G>C (p.Val362Leu)
n.2175G>C
c.888G>C
c.617G>C
c.1084G>C
c.1342G>C (p.Val448Leu)
n.1130G>C
c.938G>C
2g.32137133G>TCA346502431SPASTc.*1098G>T (n.*1098G>T)
c.1438G>T (p.Val480Leu)
c.1435G>T (p.Val479Leu)
c.1175G>T
c.1339G>T (p.Val447Leu)
c.1212G>T
c.1180G>T (p.Val394Leu)
c.505G>T
c.1018G>T
c.1314G>T
c.1084G>T (p.Val362Leu)
n.2175G>T
c.888G>T
c.617G>T
c.1084G>T
c.1342G>T (p.Val448Leu)
n.1130G>T
c.938G>T
2g.32137136_32137141delCA2582342361SPASTc.*1101_*1106del (n.*1101_*1106del)
c.1441_1446del (p.Leu481_Val482del)
c.1438_1443del (p.Leu480_Val481del)
c.1178_1183del
c.1342_1347del (p.Leu448_Val449del)
c.1215_1220del
c.1183_1188del (p.Leu395_Val396del)
c.508_513del
c.1021_1026del
c.1317_1322del
c.1087_1092del (p.Leu363_Val364del)
n.2178_2183del
c.891_896del
c.620_625del
c.1087_1092del
c.1345_1350del (p.Leu449_Val450del)
n.1133_1138del
c.941_946del
 ClinVar
2g.32137134T>ACA346502432SPASTc.*1099T>A (n.*1099T>A)
c.1439T>A (p.Val480Glu)
c.1436T>A (p.Val479Glu)
c.1176T>A
c.1340T>A (p.Val447Glu)
c.1213T>A
c.1181T>A (p.Val394Glu)
c.506T>A
c.1019T>A
c.1315T>A
c.1085T>A (p.Val362Glu)
n.2176T>A
c.889T>A
c.618T>A
c.1085T>A
c.1343T>A (p.Val448Glu)
n.1131T>A
c.939T>A
2g.32137134T>CCA346502433SPASTc.*1099T>C (n.*1099T>C)
c.1439T>C (p.Val480Ala)
c.1436T>C (p.Val479Ala)
c.1176T>C
c.1340T>C (p.Val447Ala)
c.1213T>C
c.1181T>C (p.Val394Ala)
c.506T>C
c.1019T>C
c.1315T>C
c.1085T>C (p.Val362Ala)
n.2176T>C
c.889T>C
c.618T>C
c.1085T>C
c.1343T>C (p.Val448Ala)
n.1131T>C
c.939T>C
2g.32137134T>GCA346502434SPASTc.*1099T>G (n.*1099T>G)
c.1439T>G (p.Val480Gly)
c.1436T>G (p.Val479Gly)
c.1176T>G
c.1340T>G (p.Val447Gly)
c.1213T>G
c.1181T>G (p.Val394Gly)
c.506T>G
c.1019T>G
c.1315T>G
c.1085T>G (p.Val362Gly)
n.2176T>G
c.889T>G
c.618T>G
c.1085T>G
c.1343T>G (p.Val448Gly)
n.1131T>G
c.939T>G
2g.32137134_32137140delinsCCA2586964777SPASTc.*1099_*1105delinsC (n.*1099_*1105delinsC)
c.1439_1445delinsC (p.Val480_Val482delinsAla)
c.1436_1442delinsC (p.Val479_Val481delinsAla)
c.1176_1182delinsC
c.1340_1346delinsC (p.Val447_Val449delinsAla)
c.1213_1219delinsC
c.1181_1187delinsC (p.Val394_Val396delinsAla)
c.506_512delinsC
c.1019_1025delinsC
c.1315_1321delinsC
c.1085_1091delinsC (p.Val362_Val364delinsAla)
n.2176_2182delinsC
c.889_895delinsC
c.618_624delinsC
c.1085_1091delinsC
c.1343_1349delinsC (p.Val448_Val450delinsAla)
n.1131_1137delinsC
c.939_945delinsC
2g.32137135A>CCA425449186SPASTc.*1100A>C (n.*1100A>C)
c.1440A>C (p.Val480=)
c.1437A>C (p.Val479=)
c.1177A>C
c.1341A>C (p.Val447=)
c.1214A>C
c.1182A>C (p.Val394=)
c.507A>C
c.1020A>C
c.1316A>C
c.1086A>C (p.Val362=)
n.2177A>C
c.890A>C
c.619A>C
c.1086A>C
c.1344A>C (p.Val448=)
n.1132A>C
c.940A>C
2g.32137135A>GCA425449187SPASTc.*1100A>G (n.*1100A>G)
c.1440A>G (p.Val480=)
c.1437A>G (p.Val479=)
c.1177A>G
c.1341A>G (p.Val447=)
c.1214A>G
c.1182A>G (p.Val394=)
c.507A>G
c.1020A>G
c.1316A>G
c.1086A>G (p.Val362=)
n.2177A>G
c.890A>G
c.619A>G
c.1086A>G
c.1344A>G (p.Val448=)
n.1132A>G
c.940A>G
 gnomAD v4
2g.32137135A>TCA425449188SPASTc.*1100A>T (n.*1100A>T)
c.1440A>T (p.Val480=)
c.1437A>T (p.Val479=)
c.1177A>T
c.1341A>T (p.Val447=)
c.1214A>T
c.1182A>T (p.Val394=)
c.507A>T
c.1020A>T
c.1316A>T
c.1086A>T (p.Val362=)
n.2177A>T
c.890A>T
c.619A>T
c.1086A>T
c.1344A>T (p.Val448=)
n.1132A>T
c.940A>T
2g.32137136C>ACA346502436SPASTc.*1101C>A (n.*1101C>A)
c.1441C>A (p.Leu481Ile)
c.1438C>A (p.Leu480Ile)
c.1178C>A
c.1342C>A (p.Leu448Ile)
c.1215C>A
c.1183C>A (p.Leu395Ile)
c.508C>A
c.1021C>A
c.1317C>A
c.1087C>A (p.Leu363Ile)
n.2178C>A
c.891C>A
c.620C>A
c.1087C>A
c.1345C>A (p.Leu449Ile)
n.1133C>A
c.941C>A
2g.32137136C>GCA346502437SPASTc.*1101C>G (n.*1101C>G)
c.1441C>G (p.Leu481Val)
c.1438C>G (p.Leu480Val)
c.1178C>G
c.1342C>G (p.Leu448Val)
c.1215C>G
c.1183C>G (p.Leu395Val)
c.508C>G
c.1021C>G
c.1317C>G
c.1087C>G (p.Leu363Val)
n.2178C>G
c.891C>G
c.620C>G
c.1087C>G
c.1345C>G (p.Leu449Val)
n.1133C>G
c.941C>G
 gnomAD v4
2g.32137136C>TCA346502435SPASTc.*1101C>T (n.*1101C>T)
c.1441C>T (p.Leu481Phe)
c.1438C>T (p.Leu480Phe)
c.1178C>T
c.1342C>T (p.Leu448Phe)
c.1215C>T
c.1183C>T (p.Leu395Phe)
c.508C>T
c.1021C>T
c.1317C>T
c.1087C>T (p.Leu363Phe)
n.2178C>T
c.891C>T
c.620C>T
c.1087C>T
c.1345C>T (p.Leu449Phe)
n.1133C>T
c.941C>T
2g.32137137T>ACA346502438SPASTc.*1102T>A (n.*1102T>A)
c.1442T>A (p.Leu481His)
c.1439T>A (p.Leu480His)
c.1179T>A
c.1343T>A (p.Leu448His)
c.1216T>A
c.1184T>A (p.Leu395His)
c.509T>A
c.1022T>A
c.1318T>A
c.1088T>A (p.Leu363His)
n.2179T>A
c.892T>A
c.621T>A
c.1088T>A
c.1346T>A (p.Leu449His)
n.1134T>A
c.942T>A
2g.32137137T>CCA346502439SPASTc.*1102T>C (n.*1102T>C)
c.1442T>C (p.Leu481Pro)
c.1439T>C (p.Leu480Pro)
c.1179T>C
c.1343T>C (p.Leu448Pro)
c.1216T>C
c.1184T>C (p.Leu395Pro)
c.509T>C
c.1022T>C
c.1318T>C
c.1088T>C (p.Leu363Pro)
n.2179T>C
c.892T>C
c.621T>C
c.1088T>C
c.1346T>C (p.Leu449Pro)
n.1134T>C
c.942T>C
2g.32137137T>GCA346502440SPASTc.*1102T>G (n.*1102T>G)
c.1442T>G (p.Leu481Arg)
c.1439T>G (p.Leu480Arg)
c.1179T>G
c.1343T>G (p.Leu448Arg)
c.1216T>G
c.1184T>G (p.Leu395Arg)
c.509T>G
c.1022T>G
c.1318T>G
c.1088T>G (p.Leu363Arg)
n.2179T>G
c.892T>G
c.621T>G
c.1088T>G
c.1346T>G (p.Leu449Arg)
n.1134T>G
c.942T>G
2g.32137137T=CA1242502047SPASTc.*1102T= (n.*1102T=)
c.1442T= (p.Leu481=)
c.1439T= (p.Leu480=)
c.1179T=
c.1343T= (p.Leu448=)
c.1216T=
c.1184T= (p.Leu395=)
c.509T=
c.1022T=
c.1318T=
c.1088T= (p.Leu363=)
n.2179T=
c.892T=
c.621T=
c.1088T=
c.1346T= (p.Leu449=)
n.1134T=
c.942T=
2g.32137137_32137138insACA658657027SPASTc.*1102_*1103insA (n.*1102_*1103insA)
c.1442_1443insA (p.Val482CysfsTer6)
c.1439_1440insA (p.Val481CysfsTer6)
c.1179_1180insA
c.1343_1344insA (p.Val449CysfsTer6)
c.1216_1217insA
c.1184_1185insA (p.Val396CysfsTer6)
c.509_510insA
c.1022_1023insA
c.1318_1319insA
c.1088_1089insA (p.Val364CysfsTer6)
n.2179_2180insA
c.892_893insA
c.621_622insA
c.1088_1089insA
c.1346_1347insA (p.Val450CysfsTer6)
n.1134_1135insA
c.942_943insA
 ClinVar dbSNP
2g.32137138T>ACA425449191SPASTc.*1103T>A (n.*1103T>A)
c.1443T>A (p.Leu481=)
c.1440T>A (p.Leu480=)
c.1180T>A
c.1344T>A (p.Leu448=)
c.1217T>A
c.1185T>A (p.Leu395=)
c.510T>A
c.1023T>A
c.1319T>A
c.1089T>A (p.Leu363=)
n.2180T>A
c.893T>A
c.622T>A
c.1089T>A
c.1347T>A (p.Leu449=)
n.1135T>A
c.943T>A
2g.32137138T>CCA425449190SPASTc.*1103T>C (n.*1103T>C)
c.1443T>C (p.Leu481=)
c.1440T>C (p.Leu480=)
c.1180T>C
c.1344T>C (p.Leu448=)
c.1217T>C
c.1185T>C (p.Leu395=)
c.510T>C
c.1023T>C
c.1319T>C
c.1089T>C (p.Leu363=)
n.2180T>C
c.893T>C
c.622T>C
c.1089T>C
c.1347T>C (p.Leu449=)
n.1135T>C
c.943T>C
2g.32137138T>GCA425449189SPASTc.*1103T>G (n.*1103T>G)
c.1443T>G (p.Leu481=)
c.1440T>G (p.Leu480=)
c.1180T>G
c.1344T>G (p.Leu448=)
c.1217T>G
c.1185T>G (p.Leu395=)
c.510T>G
c.1023T>G
c.1319T>G
c.1089T>G (p.Leu363=)
n.2180T>G
c.893T>G
c.622T>G
c.1089T>G
c.1347T>G (p.Leu449=)
n.1135T>G
c.943T>G
2g.32137139G>ACA346502441SPASTc.*1104G>A (n.*1104G>A)
c.1444G>A (p.Val482Ile)
c.1441G>A (p.Val481Ile)
c.1181G>A
c.1345G>A (p.Val449Ile)
c.1218G>A
c.1186G>A (p.Val396Ile)
c.511G>A
c.1024G>A
c.1320G>A
c.1090G>A (p.Val364Ile)
n.2181G>A
c.894G>A
c.623G>A
c.1090G>A
c.1348G>A (p.Val450Ile)
n.1136G>A
c.944G>A
 gnomAD v4
2g.32137139G>CCA346502442SPASTc.*1104G>C (n.*1104G>C)
c.1444G>C (p.Val482Leu)
c.1441G>C (p.Val481Leu)
c.1181G>C
c.1345G>C (p.Val449Leu)
c.1218G>C
c.1186G>C (p.Val396Leu)
c.511G>C
c.1024G>C
c.1320G>C
c.1090G>C (p.Val364Leu)
n.2181G>C
c.894G>C
c.623G>C
c.1090G>C
c.1348G>C (p.Val450Leu)
n.1136G>C
c.944G>C
 dbSNP
2g.32137139G=CA1242502056SPASTc.*1104G= (n.*1104G=)
c.1444G= (p.Val482=)
c.1441G= (p.Val481=)
c.1181G=
c.1345G= (p.Val449=)
c.1218G=
c.1186G= (p.Val396=)
c.511G=
c.1024G=
c.1320G=
c.1090G= (p.Val364=)
n.2181G=
c.894G=
c.623G=
c.1090G=
c.1348G= (p.Val450=)
n.1136G=
c.944G=
2g.32137139G>TCA346502443SPASTc.*1104G>T (n.*1104G>T)
c.1444G>T (p.Val482Leu)
c.1441G>T (p.Val481Leu)
c.1181G>T
c.1345G>T (p.Val449Leu)
c.1218G>T
c.1186G>T (p.Val396Leu)
c.511G>T
c.1024G>T
c.1320G>T
c.1090G>T (p.Val364Leu)
n.2181G>T
c.894G>T
c.623G>T
c.1090G>T
c.1348G>T (p.Val450Leu)
n.1136G>T
c.944G>T
2g.32137140T>ACA346502444SPASTc.*1105T>A (n.*1105T>A)
c.1445T>A (p.Val482Glu)
c.1442T>A (p.Val481Glu)
c.1182T>A
c.1346T>A (p.Val449Glu)
c.1219T>A
c.1187T>A (p.Val396Glu)
c.512T>A
c.1025T>A
c.1321T>A
c.1091T>A (p.Val364Glu)
n.2182T>A
c.895T>A
c.624T>A
c.1091T>A
c.1349T>A (p.Val450Glu)
n.1137T>A
c.945T>A
2g.32137140T>CCA346502445SPASTc.*1105T>C (n.*1105T>C)
c.1445T>C (p.Val482Ala)
c.1442T>C (p.Val481Ala)
c.1182T>C
c.1346T>C (p.Val449Ala)
c.1219T>C
c.1187T>C (p.Val396Ala)
c.512T>C
c.1025T>C
c.1321T>C
c.1091T>C (p.Val364Ala)
n.2182T>C
c.895T>C
c.624T>C
c.1091T>C
c.1349T>C (p.Val450Ala)
n.1137T>C
c.945T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32137140T>GCA346502446SPASTc.*1105T>G (n.*1105T>G)
c.1445T>G (p.Val482Gly)
c.1442T>G (p.Val481Gly)
c.1182T>G
c.1346T>G (p.Val449Gly)
c.1219T>G
c.1187T>G (p.Val396Gly)
c.512T>G
c.1025T>G
c.1321T>G
c.1091T>G (p.Val364Gly)
n.2182T>G
c.895T>G
c.624T>G
c.1091T>G
c.1349T>G (p.Val450Gly)
n.1137T>G
c.945T>G
2g.32137140T=CA1242502059SPASTc.*1105T= (n.*1105T=)
c.1445T= (p.Val482=)
c.1442T= (p.Val481=)
c.1182T=
c.1346T= (p.Val449=)
c.1219T=
c.1187T= (p.Val396=)
c.512T=
c.1025T=
c.1321T=
c.1091T= (p.Val364=)
n.2182T=
c.895T=
c.624T=
c.1091T=
c.1349T= (p.Val450=)
n.1137T=
c.945T=
2g.32137141A=CA1242502063SPASTc.*1106A= (n.*1106A=)
c.1446A= (p.Val482=)
c.1443A= (p.Val481=)
c.1183A=
c.1347A= (p.Val449=)
c.1220A=
c.1188A= (p.Val396=)
c.513A=
c.1026A=
c.1322A=
c.1092A= (p.Val364=)
n.2183A=
c.896A=
c.625A=
c.1092A=
c.1350A= (p.Val450=)
n.1138A=
c.946A=
2g.32137141A>CCA425449192SPASTc.*1106A>C (n.*1106A>C)
c.1446A>C (p.Val482=)
c.1443A>C (p.Val481=)
c.1183A>C
c.1347A>C (p.Val449=)
c.1220A>C
c.1188A>C (p.Val396=)
c.513A>C
c.1026A>C
c.1322A>C
c.1092A>C (p.Val364=)
n.2183A>C
c.896A>C
c.625A>C
c.1092A>C
c.1350A>C (p.Val450=)
n.1138A>C
c.946A>C
 dbSNP
2g.32137141A>GCA425449193SPASTc.*1106A>G (n.*1106A>G)
c.1446A>G (p.Val482=)
c.1443A>G (p.Val481=)
c.1183A>G
c.1347A>G (p.Val449=)
c.1220A>G
c.1188A>G (p.Val396=)
c.513A>G
c.1026A>G
c.1322A>G
c.1092A>G (p.Val364=)
n.2183A>G
c.896A>G
c.625A>G
c.1092A>G
c.1350A>G (p.Val450=)
n.1138A>G
c.946A>G
2g.32137141A>TCA425449194SPASTc.*1106A>T (n.*1106A>T)
c.1446A>T (p.Val482=)
c.1443A>T (p.Val481=)
c.1183A>T
c.1347A>T (p.Val449=)
c.1220A>T
c.1188A>T (p.Val396=)
c.513A>T
c.1026A>T
c.1322A>T
c.1092A>T (p.Val364=)
n.2183A>T
c.896A>T
c.625A>T
c.1092A>T
c.1350A>T (p.Val450=)
n.1138A>T
c.946A>T
2g.32137142A>CCA346502447SPASTc.*1107A>C (n.*1107A>C)
c.1447A>C (p.Met483Leu)
c.1444A>C (p.Met482Leu)
c.1184A>C
c.1348A>C (p.Met450Leu)
c.1221A>C
c.1189A>C (p.Met397Leu)
c.514A>C
c.1027A>C
c.1323A>C
c.1093A>C (p.Met365Leu)
n.2184A>C
c.897A>C
c.626A>C
c.1093A>C
c.1351A>C (p.Met451Leu)
n.1139A>C
c.947A>C
2g.32137142A>GCA346502448SPASTc.*1107A>G (n.*1107A>G)
c.1447A>G (p.Met483Val)
c.1444A>G (p.Met482Val)
c.1184A>G
c.1348A>G (p.Met450Val)
c.1221A>G
c.1189A>G (p.Met397Val)
c.514A>G
c.1027A>G
c.1323A>G
c.1093A>G (p.Met365Val)
n.2184A>G
c.897A>G
c.626A>G
c.1093A>G
c.1351A>G (p.Met451Val)
n.1139A>G
c.947A>G
2g.32137142A>TCA346502449SPASTc.*1107A>T (n.*1107A>T)
c.1447A>T (p.Met483Leu)
c.1444A>T (p.Met482Leu)
c.1184A>T
c.1348A>T (p.Met450Leu)
c.1221A>T
c.1189A>T (p.Met397Leu)
c.514A>T
c.1027A>T
c.1323A>T
c.1093A>T (p.Met365Leu)
n.2184A>T
c.897A>T
c.626A>T
c.1093A>T
c.1351A>T (p.Met451Leu)
n.1139A>T
c.947A>T
2g.32137142_32137143delCA2586964778SPASTc.*1107_*1108del (n.*1107_*1108del)
c.1447_1448del (p.Met483GlyfsTer4)
c.1444_1445del (p.Met482GlyfsTer4)
c.1184_1185del
c.1348_1349del (p.Met450GlyfsTer4)
c.1221_1222del
c.1189_1190del (p.Met397GlyfsTer4)
c.514_515del
c.1027_1028del
c.1323_1324del
c.1093_1094del (p.Met365GlyfsTer4)
n.2184_2185del
c.897_898del
c.626_627del
c.1093_1094del
c.1351_1352del (p.Met451GlyfsTer4)
n.1139_1140del
c.947_948del
2g.32137143T>ACA346502452SPASTc.*1108T>A (n.*1108T>A)
c.1448T>A (p.Met483Lys)
c.1445T>A (p.Met482Lys)
c.1185T>A
c.1349T>A (p.Met450Lys)
c.1222T>A
c.1190T>A (p.Met397Lys)
c.515T>A
c.1028T>A
c.1324T>A
c.1094T>A (p.Met365Lys)
n.2185T>A
c.898T>A
c.627T>A
c.1094T>A
c.1352T>A (p.Met451Lys)
n.1140T>A
c.948T>A
2g.32137143T>CCA346502450SPASTc.*1108T>C (n.*1108T>C)
c.1448T>C (p.Met483Thr)
c.1445T>C (p.Met482Thr)
c.1185T>C
c.1349T>C (p.Met450Thr)
c.1222T>C
c.1190T>C (p.Met397Thr)
c.515T>C
c.1028T>C
c.1324T>C
c.1094T>C (p.Met365Thr)
n.2185T>C
c.898T>C
c.627T>C
c.1094T>C
c.1352T>C (p.Met451Thr)
n.1140T>C
c.948T>C
 ClinVar dbSNP
2g.32137143T>GCA346502451SPASTc.*1108T>G (n.*1108T>G)
c.1448T>G (p.Met483Arg)
c.1445T>G (p.Met482Arg)
c.1185T>G
c.1349T>G (p.Met450Arg)
c.1222T>G
c.1190T>G (p.Met397Arg)
c.515T>G
c.1028T>G
c.1324T>G
c.1094T>G (p.Met365Arg)
n.2185T>G
c.898T>G
c.627T>G
c.1094T>G
c.1352T>G (p.Met451Arg)
n.1140T>G
c.948T>G
 ClinVar
2g.32137143T=CA1242502068SPASTc.*1108T= (n.*1108T=)
c.1448T= (p.Met483=)
c.1445T= (p.Met482=)
c.1185T=
c.1349T= (p.Met450=)
c.1222T=
c.1190T= (p.Met397=)
c.515T=
c.1028T=
c.1324T=
c.1094T= (p.Met365=)
n.2185T=
c.898T=
c.627T=
c.1094T=
c.1352T= (p.Met451=)
n.1140T=
c.948T=
2g.32137143_32137144delinsTGCA1242502070SPASTc.*1108_*1109delinsTG (n.*1108_*1109delinsTG)
c.1448_1449delinsTG (p.Met483=)
c.1445_1446delinsTG (p.Met482=)
c.1185_1186delinsTG
c.1349_1350delinsTG (p.Met450=)
c.1222_1223delinsTG
c.1190_1191delinsTG (p.Met397=)
c.515_516delinsTG
c.1028_1029delinsTG
c.1324_1325delinsTG
c.1094_1095delinsTG (p.Met365=)
n.2185_2186delinsTG
c.898_899delinsTG
c.627_628delinsTG
c.1094_1095delinsTG
c.1352_1353delinsTG (p.Met451=)
n.1140_1141delinsTG
c.948_949delinsTG
2g.32137144G>ACA346502453SPASTc.*1109G>A (n.*1109G>A)
c.1449G>A (p.Met483Ile)
c.1446G>A (p.Met482Ile)
c.1186G>A
c.1350G>A (p.Met450Ile)
c.1223G>A
c.1191G>A (p.Met397Ile)
c.516G>A
c.1029G>A
c.1325G>A
c.1095G>A (p.Met365Ile)
n.2186G>A
c.899G>A
c.628G>A
c.1095G>A
c.1353G>A (p.Met451Ile)
n.1141G>A
c.949G>A
2g.32137144G>CCA346502454SPASTc.*1109G>C (n.*1109G>C)
c.1449G>C (p.Met483Ile)
c.1446G>C (p.Met482Ile)
c.1186G>C
c.1350G>C (p.Met450Ile)
c.1223G>C
c.1191G>C (p.Met397Ile)
c.516G>C
c.1029G>C
c.1325G>C
c.1095G>C (p.Met365Ile)
n.2186G>C
c.899G>C
c.628G>C
c.1095G>C
c.1353G>C (p.Met451Ile)
n.1141G>C
c.949G>C
2g.32137144G>TCA346502455SPASTc.*1109G>T (n.*1109G>T)
c.1449G>T (p.Met483Ile)
c.1446G>T (p.Met482Ile)
c.1186G>T
c.1350G>T (p.Met450Ile)
c.1223G>T
c.1191G>T (p.Met397Ile)
c.516G>T
c.1029G>T
c.1325G>T
c.1095G>T (p.Met365Ile)
n.2186G>T
c.899G>T
c.628G>T
c.1095G>T
c.1353G>T (p.Met451Ile)
n.1141G>T
c.949G>T
2g.32137146delCA1242502073SPASTc.*1111del (n.*1111del)
c.1451del (p.Gly484ValfsTer?)
c.1448del (p.Gly483ValfsTer?)
c.1188del
c.1352del (p.Gly451ValfsTer?)
c.1225del
c.1193del (p.Gly398ValfsTer?)
c.518del
c.1031del
c.1327del
c.1097del (p.Gly366ValfsTer?)
n.2188del
c.901del
c.630del
c.1097del
c.1355del (p.Gly452ValfsTer?)
n.1143del
c.951del
 dbSNP
2g.32137145_32137146delCA2586964779SPASTc.*1110_*1111del (n.*1110_*1111del)
c.1450_1451del (p.Gly484CysfsTer3)
c.1447_1448del (p.Gly483CysfsTer3)
c.1187_1188del
c.1351_1352del (p.Gly451CysfsTer3)
c.1224_1225del
c.1192_1193del (p.Gly398CysfsTer3)
c.517_518del
c.1030_1031del
c.1326_1327del
c.1096_1097del (p.Gly366CysfsTer3)
n.2187_2188del
c.900_901del
c.629_630del
c.1096_1097del
c.1354_1355del (p.Gly452CysfsTer3)
n.1142_1143del
c.950_951del
2g.32137145G>ACA346502456SPASTc.*1110G>A (n.*1110G>A)
c.1450G>A (p.Gly484Ser)
c.1447G>A (p.Gly483Ser)
c.1187G>A
c.1351G>A (p.Gly451Ser)
c.1224G>A
c.1192G>A (p.Gly398Ser)
c.517G>A
c.1030G>A
c.1326G>A
c.1096G>A (p.Gly366Ser)
n.2187G>A
c.900G>A
c.629G>A
c.1096G>A
c.1354G>A (p.Gly452Ser)
n.1142G>A
c.950G>A
2g.32137145G>CCA346502457SPASTc.*1110G>C (n.*1110G>C)
c.1450G>C (p.Gly484Arg)
c.1447G>C (p.Gly483Arg)
c.1187G>C
c.1351G>C (p.Gly451Arg)
c.1224G>C
c.1192G>C (p.Gly398Arg)
c.517G>C
c.1030G>C
c.1326G>C
c.1096G>C (p.Gly366Arg)
n.2187G>C
c.900G>C
c.629G>C
c.1096G>C
c.1354G>C (p.Gly452Arg)
n.1142G>C
c.950G>C
 ClinVar dbSNP
2g.32137145G=CA1242502076SPASTc.*1110G= (n.*1110G=)
c.1450G= (p.Gly484=)
c.1447G= (p.Gly483=)
c.1187G=
c.1351G= (p.Gly451=)
c.1224G=
c.1192G= (p.Gly398=)
c.517G=
c.1030G=
c.1326G=
c.1096G= (p.Gly366=)
n.2187G=
c.900G=
c.629G=
c.1096G=
c.1354G= (p.Gly452=)
n.1142G=
c.950G=
2g.32137145G>TCA346502458SPASTc.*1110G>T (n.*1110G>T)
c.1450G>T (p.Gly484Cys)
c.1447G>T (p.Gly483Cys)
c.1187G>T
c.1351G>T (p.Gly451Cys)
c.1224G>T
c.1192G>T (p.Gly398Cys)
c.517G>T
c.1030G>T
c.1326G>T
c.1096G>T (p.Gly366Cys)
n.2187G>T
c.900G>T
c.629G>T
c.1096G>T
c.1354G>T (p.Gly452Cys)
n.1142G>T
c.950G>T
2g.32137146G>ACA346502459SPASTc.*1111G>A (n.*1111G>A)
c.1451G>A (p.Gly484Asp)
c.1448G>A (p.Gly483Asp)
c.1188G>A
c.1352G>A (p.Gly451Asp)
c.1225G>A
c.1193G>A (p.Gly398Asp)
c.518G>A
c.1031G>A
c.1327G>A
c.1097G>A (p.Gly366Asp)
n.2188G>A
c.901G>A
c.630G>A
c.1097G>A
c.1355G>A (p.Gly452Asp)
n.1143G>A
c.951G>A
 ClinVar dbSNP
2g.32137146G>CCA346502460SPASTc.*1111G>C (n.*1111G>C)
c.1451G>C (p.Gly484Ala)
c.1448G>C (p.Gly483Ala)
c.1188G>C
c.1352G>C (p.Gly451Ala)
c.1225G>C
c.1193G>C (p.Gly398Ala)
c.518G>C
c.1031G>C
c.1327G>C
c.1097G>C (p.Gly366Ala)
n.2188G>C
c.901G>C
c.630G>C
c.1097G>C
c.1355G>C (p.Gly452Ala)
n.1143G>C
c.951G>C
2g.32137146G=CA1242502086SPASTc.*1111G= (n.*1111G=)
c.1451G= (p.Gly484=)
c.1448G= (p.Gly483=)
c.1188G=
c.1352G= (p.Gly451=)
c.1225G=
c.1193G= (p.Gly398=)
c.518G=
c.1031G=
c.1327G=
c.1097G= (p.Gly366=)
n.2188G=
c.901G=
c.630G=
c.1097G=
c.1355G= (p.Gly452=)
n.1143G=
c.951G=
2g.32137146G>TCA346502461SPASTc.*1111G>T (n.*1111G>T)
c.1451G>T (p.Gly484Val)
c.1448G>T (p.Gly483Val)
c.1188G>T
c.1352G>T (p.Gly451Val)
c.1225G>T
c.1193G>T (p.Gly398Val)
c.518G>T
c.1031G>T
c.1327G>T
c.1097G>T (p.Gly366Val)
n.2188G>T
c.901G>T
c.630G>T
c.1097G>T
c.1355G>T (p.Gly452Val)
n.1143G>T
c.951G>T
2g.32137147T>ACA425449195SPASTc.*1112T>A (n.*1112T>A)
c.1452T>A (p.Gly484=)
c.1449T>A (p.Gly483=)
c.1189T>A
c.1353T>A (p.Gly451=)
c.1226T>A
c.1194T>A (p.Gly398=)
c.519T>A
c.1032T>A
c.1328T>A
c.1098T>A (p.Gly366=)
n.2189T>A
c.902T>A
c.631T>A
c.1098T>A
c.1356T>A (p.Gly452=)
n.1144T>A
c.952T>A
2g.32137147T>CCA425449196SPASTc.*1112T>C (n.*1112T>C)
c.1452T>C (p.Gly484=)
c.1449T>C (p.Gly483=)
c.1189T>C
c.1353T>C (p.Gly451=)
c.1226T>C
c.1194T>C (p.Gly398=)
c.519T>C
c.1032T>C
c.1328T>C
c.1098T>C (p.Gly366=)
n.2189T>C
c.902T>C
c.631T>C
c.1098T>C
c.1356T>C (p.Gly452=)
n.1144T>C
c.952T>C
 dbSNP gnomAD v2
2g.32137147T>GCA425449197SPASTc.*1112T>G (n.*1112T>G)
c.1452T>G (p.Gly484=)
c.1449T>G (p.Gly483=)
c.1189T>G
c.1353T>G (p.Gly451=)
c.1226T>G
c.1194T>G (p.Gly398=)
c.519T>G
c.1032T>G
c.1328T>G
c.1098T>G (p.Gly366=)
n.2189T>G
c.902T>G
c.631T>G
c.1098T>G
c.1356T>G (p.Gly452=)
n.1144T>G
c.952T>G
2g.32137147T=CA1242502095SPASTc.*1112T= (n.*1112T=)
c.1452T= (p.Gly484=)
c.1449T= (p.Gly483=)
c.1189T=
c.1353T= (p.Gly451=)
c.1226T=
c.1194T= (p.Gly398=)
c.519T=
c.1032T=
c.1328T=
c.1098T= (p.Gly366=)
n.2189T=
c.902T=
c.631T=
c.1098T=
c.1356T= (p.Gly452=)
n.1144T=
c.952T=
2g.32137147_32137157delinsTGCAACTAATACA1242502093SPASTc.*1112_*1122delinsTGCAACTAATA (n.*1112_*1122delinsTGCAACTAATA)
c.1452_1462delinsTGCAACTAATA (p.Gly484=)
c.1449_1459delinsTGCAACTAATA (p.Gly483=)
c.1189_1199delinsTGCAACTAATA
c.1353_1363delinsTGCAACTAATA (p.Gly451=)
c.1226_1236delinsTGCAACTAATA
c.1194_1204delinsTGCAACTAATA (p.Gly398=)
c.519_529delinsTGCAACTAATA
c.1032_1042delinsTGCAACTAATA
c.1328_1338delinsTGCAACTAATA
c.1098_1108delinsTGCAACTAATA (p.Gly366=)
n.2189_2199delinsTGCAACTAATA
c.902_912delinsTGCAACTAATA
c.631_641delinsTGCAACTAATA
c.1098_1108delinsTGCAACTAATA
c.1356_1366delinsTGCAACTAATA (p.Gly452=)
n.1144_1154delinsTGCAACTAATA
c.952_962delinsTGCAACTAATA
2g.32137148G>ACA346502462SPASTc.*1113G>A (n.*1113G>A)
c.1453G>A (p.Ala485Thr)
c.1450G>A (p.Ala484Thr)
c.1190G>A
c.1354G>A (p.Ala452Thr)
c.1227G>A
c.1195G>A (p.Ala399Thr)
c.520G>A
c.1033G>A
c.1329G>A
c.1099G>A (p.Ala367Thr)
n.2190G>A
c.903G>A
c.632G>A
c.1099G>A
c.1357G>A (p.Ala453Thr)
n.1145G>A
c.953G>A
2g.32137148G>CCA346502463SPASTc.*1113G>C (n.*1113G>C)
c.1453G>C (p.Ala485Pro)
c.1450G>C (p.Ala484Pro)
c.1190G>C
c.1354G>C (p.Ala452Pro)
c.1227G>C
c.1195G>C (p.Ala399Pro)
c.520G>C
c.1033G>C
c.1329G>C
c.1099G>C (p.Ala367Pro)
n.2190G>C
c.903G>C
c.632G>C
c.1099G>C
c.1357G>C (p.Ala453Pro)
n.1145G>C
c.953G>C
2g.32137148G>TCA346502464SPASTc.*1113G>T (n.*1113G>T)
c.1453G>T (p.Ala485Ser)
c.1450G>T (p.Ala484Ser)
c.1190G>T
c.1354G>T (p.Ala452Ser)
c.1227G>T
c.1195G>T (p.Ala399Ser)
c.520G>T
c.1033G>T
c.1329G>T
c.1099G>T (p.Ala367Ser)
n.2190G>T
c.903G>T
c.632G>T
c.1099G>T
c.1357G>T (p.Ala453Ser)
n.1145G>T
c.953G>T
2g.32137149_32137158delCA915943726SPASTc.*1114_*1123del (n.*1114_*1123del)
c.1454_1463del (p.Ala485GlyfsTer?)
c.1451_1460del (p.Ala484GlyfsTer?)
c.1191_1200del
c.1355_1364del (p.Ala452GlyfsTer?)
c.1228_1237del
c.1196_1205del (p.Ala399GlyfsTer?)
c.521_530del
c.1034_1043del
c.1330_1339del
c.1100_1109del (p.Ala367GlyfsTer?)
n.2191_2200del
c.904_913del
c.633_642del
c.1100_1109del
c.1358_1367del (p.Ala453GlyfsTer?)
n.1146_1155del
c.954_963del
 ClinVar dbSNP
2g.32137149C>ACA346502466SPASTc.*1114C>A (n.*1114C>A)
c.1454C>A (p.Ala485Glu)
c.1451C>A (p.Ala484Glu)
c.1191C>A
c.1355C>A (p.Ala452Glu)
c.1228C>A
c.1196C>A (p.Ala399Glu)
c.521C>A
c.1034C>A
c.1330C>A
c.1100C>A (p.Ala367Glu)
n.2191C>A
c.904C>A
c.633C>A
c.1100C>A
c.1358C>A (p.Ala453Glu)
n.1146C>A
c.954C>A
2g.32137149C=CA1242502103SPASTc.*1114C= (n.*1114C=)
c.1454C= (p.Ala485=)
c.1451C= (p.Ala484=)
c.1191C=
c.1355C= (p.Ala452=)
c.1228C=
c.1196C= (p.Ala399=)
c.521C=
c.1034C=
c.1330C=
c.1100C= (p.Ala367=)
n.2191C=
c.904C=
c.633C=
c.1100C=
c.1358C= (p.Ala453=)
n.1146C=
c.954C=
2g.32137149C>GCA44750166SPASTc.*1114C>G (n.*1114C>G)
c.1454C>G (p.Ala485Gly)
c.1451C>G (p.Ala484Gly)
c.1191C>G
c.1355C>G (p.Ala452Gly)
c.1228C>G
c.1196C>G (p.Ala399Gly)
c.521C>G
c.1034C>G
c.1330C>G
c.1100C>G (p.Ala367Gly)
n.2191C>G
c.904C>G
c.633C>G
c.1100C>G
c.1358C>G (p.Ala453Gly)
n.1146C>G
c.954C>G
 dbSNP
2g.32137149C>TCA346502465SPASTc.*1114C>T (n.*1114C>T)
c.1454C>T (p.Ala485Val)
c.1451C>T (p.Ala484Val)
c.1191C>T
c.1355C>T (p.Ala452Val)
c.1228C>T
c.1196C>T (p.Ala399Val)
c.521C>T
c.1034C>T
c.1330C>T
c.1100C>T (p.Ala367Val)
n.2191C>T
c.904C>T
c.633C>T
c.1100C>T
c.1358C>T (p.Ala453Val)
n.1146C>T
c.954C>T
 dbSNP
2g.32137150A>CCA425449200SPASTc.*1115A>C (n.*1115A>C)
c.1455A>C (p.Ala485=)
c.1452A>C (p.Ala484=)
c.1192A>C
c.1356A>C (p.Ala452=)
c.1229A>C
c.1197A>C (p.Ala399=)
c.522A>C
c.1035A>C
c.1331A>C
c.1101A>C (p.Ala367=)
n.2192A>C
c.905A>C
c.634A>C
c.1101A>C
c.1359A>C (p.Ala453=)
n.1147A>C
c.955A>C
2g.32137150A>GCA425449198SPASTc.*1115A>G (n.*1115A>G)
c.1455A>G (p.Ala485=)
c.1452A>G (p.Ala484=)
c.1192A>G
c.1356A>G (p.Ala452=)
c.1229A>G
c.1197A>G (p.Ala399=)
c.522A>G
c.1035A>G
c.1331A>G
c.1101A>G (p.Ala367=)
n.2192A>G
c.905A>G
c.634A>G
c.1101A>G
c.1359A>G (p.Ala453=)
n.1147A>G
c.955A>G
2g.32137150A>TCA425449199SPASTc.*1115A>T (n.*1115A>T)
c.1455A>T (p.Ala485=)
c.1452A>T (p.Ala484=)
c.1192A>T
c.1356A>T (p.Ala452=)
c.1229A>T
c.1197A>T (p.Ala399=)
c.522A>T
c.1035A>T
c.1331A>T
c.1101A>T (p.Ala367=)
n.2192A>T
c.905A>T
c.634A>T
c.1101A>T
c.1359A>T (p.Ala453=)
n.1147A>T
c.955A>T
2g.32137152_32137155delCA2586964780SPASTc.*1117_*1120del (n.*1117_*1120del)
c.1457_1460del (p.Thr486IlefsTer?)
c.1454_1457del (p.Thr485IlefsTer?)
c.1194_1197del
c.1358_1361del (p.Thr453IlefsTer?)
c.1231_1234del
c.1199_1202del (p.Thr400IlefsTer?)
c.524_527del
c.1037_1040del
c.1333_1336del
c.1103_1106del (p.Thr368IlefsTer?)
n.2194_2197del
c.907_910del
c.636_639del
c.1103_1106del
c.1361_1364del (p.Thr454IlefsTer?)
n.1149_1152del
c.957_960del
2g.32137151A=CA1242502111SPASTc.*1116A= (n.*1116A=)
c.1456A= (p.Thr486=)
c.1453A= (p.Thr485=)
c.1193A=
c.1357A= (p.Thr453=)
c.1230A=
c.1198A= (p.Thr400=)
c.523A=
c.1036A=
c.1332A=
c.1102A= (p.Thr368=)
n.2193A=
c.906A=
c.635A=
c.1102A=
c.1360A= (p.Thr454=)
n.1148A=
c.956A=
2g.32137151A>CCA346502467SPASTc.*1116A>C (n.*1116A>C)
c.1456A>C (p.Thr486Pro)
c.1453A>C (p.Thr485Pro)
c.1193A>C
c.1357A>C (p.Thr453Pro)
c.1230A>C
c.1198A>C (p.Thr400Pro)
c.523A>C
c.1036A>C
c.1332A>C
c.1102A>C (p.Thr368Pro)
n.2193A>C
c.906A>C
c.635A>C
c.1102A>C
c.1360A>C (p.Thr454Pro)
n.1148A>C
c.956A>C
2g.32137151A>GCA346502469SPASTc.*1116A>G (n.*1116A>G)
c.1456A>G (p.Thr486Ala)
c.1453A>G (p.Thr485Ala)
c.1193A>G
c.1357A>G (p.Thr453Ala)
c.1230A>G
c.1198A>G (p.Thr400Ala)
c.523A>G
c.1036A>G
c.1332A>G
c.1102A>G (p.Thr368Ala)
n.2193A>G
c.906A>G
c.635A>G
c.1102A>G
c.1360A>G (p.Thr454Ala)
n.1148A>G
c.956A>G
 ClinVar dbSNP
2g.32137151A>TCA346502468SPASTc.*1116A>T (n.*1116A>T)
c.1456A>T (p.Thr486Ser)
c.1453A>T (p.Thr485Ser)
c.1193A>T
c.1357A>T (p.Thr453Ser)
c.1230A>T
c.1198A>T (p.Thr400Ser)
c.523A>T
c.1036A>T
c.1332A>T
c.1102A>T (p.Thr368Ser)
n.2193A>T
c.906A>T
c.635A>T
c.1102A>T
c.1360A>T (p.Thr454Ser)
n.1148A>T
c.956A>T
2g.32137152C>ACA346502470SPASTc.*1117C>A (n.*1117C>A)
c.1457C>A (p.Thr486Asn)
c.1454C>A (p.Thr485Asn)
c.1194C>A
c.1358C>A (p.Thr453Asn)
c.1231C>A
c.1199C>A (p.Thr400Asn)
c.524C>A
c.1037C>A
c.1333C>A
c.1103C>A (p.Thr368Asn)
n.2194C>A
c.907C>A
c.636C>A
c.1103C>A
c.1361C>A (p.Thr454Asn)
n.1149C>A
c.957C>A
2g.32137152C=CA1242502116SPASTc.*1117C= (n.*1117C=)
c.1457C= (p.Thr486=)
c.1454C= (p.Thr485=)
c.1194C=
c.1358C= (p.Thr453=)
c.1231C=
c.1199C= (p.Thr400=)
c.524C=
c.1037C=
c.1333C=
c.1103C= (p.Thr368=)
n.2194C=
c.907C=
c.636C=
c.1103C=
c.1361C= (p.Thr454=)
n.1149C=
c.957C=
2g.32137152C>GCA346502472SPASTc.*1117C>G (n.*1117C>G)
c.1457C>G (p.Thr486Ser)
c.1454C>G (p.Thr485Ser)
c.1194C>G
c.1358C>G (p.Thr453Ser)
c.1231C>G
c.1199C>G (p.Thr400Ser)
c.524C>G
c.1037C>G
c.1333C>G
c.1103C>G (p.Thr368Ser)
n.2194C>G
c.907C>G
c.636C>G
c.1103C>G
c.1361C>G (p.Thr454Ser)
n.1149C>G
c.957C>G
2g.32137152C>TCA346502471SPASTc.*1117C>T (n.*1117C>T)
c.1457C>T (p.Thr486Ile)
c.1454C>T (p.Thr485Ile)
c.1194C>T
c.1358C>T (p.Thr453Ile)
c.1231C>T
c.1199C>T (p.Thr400Ile)
c.524C>T
c.1037C>T
c.1333C>T
c.1103C>T (p.Thr368Ile)
n.2194C>T
c.907C>T
c.636C>T
c.1103C>T
c.1361C>T (p.Thr454Ile)
n.1149C>T
c.957C>T
 ClinVar dbSNP
2g.32137153T>ACA425449201SPASTc.*1118T>A (n.*1118T>A)
c.1458T>A (p.Thr486=)
c.1455T>A (p.Thr485=)
c.1195T>A
c.1359T>A (p.Thr453=)
c.1232T>A
c.1200T>A (p.Thr400=)
c.525T>A
c.1038T>A
c.1334T>A
c.1104T>A (p.Thr368=)
n.2195T>A
c.908T>A
c.637T>A
c.1104T>A
c.1362T>A (p.Thr454=)
n.1150T>A
c.958T>A
2g.32137153T>CCA425449202SPASTc.*1118T>C (n.*1118T>C)
c.1458T>C (p.Thr486=)
c.1455T>C (p.Thr485=)
c.1195T>C
c.1359T>C (p.Thr453=)
c.1232T>C
c.1200T>C (p.Thr400=)
c.525T>C
c.1038T>C
c.1334T>C
c.1104T>C (p.Thr368=)
n.2195T>C
c.908T>C
c.637T>C
c.1104T>C
c.1362T>C (p.Thr454=)
n.1150T>C
c.958T>C
 gnomAD v4
2g.32137153T>GCA425449203SPASTc.*1118T>G (n.*1118T>G)
c.1458T>G (p.Thr486=)
c.1455T>G (p.Thr485=)
c.1195T>G
c.1359T>G (p.Thr453=)
c.1232T>G
c.1200T>G (p.Thr400=)
c.525T>G
c.1038T>G
c.1334T>G
c.1104T>G (p.Thr368=)
n.2195T>G
c.908T>G
c.637T>G
c.1104T>G
c.1362T>G (p.Thr454=)
n.1150T>G
c.958T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32137153T=CA1242502132SPASTc.*1118T= (n.*1118T=)
c.1458T= (p.Thr486=)
c.1455T= (p.Thr485=)
c.1195T=
c.1359T= (p.Thr453=)
c.1232T=
c.1200T= (p.Thr400=)
c.525T=
c.1038T=
c.1334T=
c.1104T= (p.Thr368=)
n.2195T=
c.908T=
c.637T=
c.1104T=
c.1362T= (p.Thr454=)
n.1150T=
c.958T=
2g.32137153_32137154dupCA891843423SPASTc.*1118_*1119dup (n.*1118_*1119dup)
c.1458_1459dup (p.Asn487IlefsTer?)
c.1455_1456dup (p.Asn486IlefsTer?)
c.1195_1196dup
c.1359_1360dup (p.Asn454IlefsTer?)
c.1232_1233dup
c.1200_1201dup (p.Asn401IlefsTer?)
c.525_526dup
c.1038_1039dup
c.1334_1335dup
c.1104_1105dup (p.Asn369IlefsTer?)
n.2195_2196dup
c.908_909dup
c.637_638dup
c.1104_1105dup
c.1362_1363dup (p.Asn455IlefsTer?)
n.1150_1151dup
c.958_959dup
 ClinVar dbSNP
2g.32137154A=CA1242502141SPASTc.*1119A= (n.*1119A=)
c.1459A= (p.Asn487=)
c.1456A= (p.Asn486=)
c.1196A=
c.1360A= (p.Asn454=)
c.1233A=
c.1201A= (p.Asn401=)
c.526A=
c.1039A=
c.1335A=
c.1105A= (p.Asn369=)
n.2196A=
c.909A=
c.638A=
c.1105A=
c.1363A= (p.Asn455=)
n.1151A=
c.959A=
2g.32137154A>CCA346502473SPASTc.*1119A>C (n.*1119A>C)
c.1459A>C (p.Asn487His)
c.1456A>C (p.Asn486His)
c.1196A>C
c.1360A>C (p.Asn454His)
c.1233A>C
c.1201A>C (p.Asn401His)
c.526A>C
c.1039A>C
c.1335A>C
c.1105A>C (p.Asn369His)
n.2196A>C
c.909A>C
c.638A>C
c.1105A>C
c.1363A>C (p.Asn455His)
n.1151A>C
c.959A>C
 ClinVar dbSNP
2g.32137154A>GCA346502475SPASTc.*1119A>G (n.*1119A>G)
c.1459A>G (p.Asn487Asp)
c.1456A>G (p.Asn486Asp)
c.1196A>G
c.1360A>G (p.Asn454Asp)
c.1233A>G
c.1201A>G (p.Asn401Asp)
c.526A>G
c.1039A>G
c.1335A>G
c.1105A>G (p.Asn369Asp)
n.2196A>G
c.909A>G
c.638A>G
c.1105A>G
c.1363A>G (p.Asn455Asp)
n.1151A>G
c.959A>G
 ClinVar dbSNP
2g.32137154A>TCA346502474SPASTc.*1119A>T (n.*1119A>T)
c.1459A>T (p.Asn487Tyr)
c.1456A>T (p.Asn486Tyr)
c.1196A>T
c.1360A>T (p.Asn454Tyr)
c.1233A>T
c.1201A>T (p.Asn401Tyr)
c.526A>T
c.1039A>T
c.1335A>T
c.1105A>T (p.Asn369Tyr)
n.2196A>T
c.909A>T
c.638A>T
c.1105A>T
c.1363A>T (p.Asn455Tyr)
n.1151A>T
c.959A>T
2g.32137155A>CCA346502476SPASTc.*1120A>C (n.*1120A>C)
c.1460A>C (p.Asn487Thr)
c.1457A>C (p.Asn486Thr)
c.1197A>C
c.1361A>C (p.Asn454Thr)
c.1234A>C
c.1202A>C (p.Asn401Thr)
c.527A>C
c.1040A>C
c.1336A>C
c.1106A>C (p.Asn369Thr)
n.2197A>C
c.910A>C
c.639A>C
c.1106A>C
c.1364A>C (p.Asn455Thr)
n.1152A>C
c.960A>C
2g.32137155A>GCA346502477SPASTc.*1120A>G (n.*1120A>G)
c.1460A>G (p.Asn487Ser)
c.1457A>G (p.Asn486Ser)
c.1197A>G
c.1361A>G (p.Asn454Ser)
c.1234A>G
c.1202A>G (p.Asn401Ser)
c.527A>G
c.1040A>G
c.1336A>G
c.1106A>G (p.Asn369Ser)
n.2197A>G
c.910A>G
c.639A>G
c.1106A>G
c.1364A>G (p.Asn455Ser)
n.1152A>G
c.960A>G
 ClinVar dbSNP
2g.32137155A>TCA346502478SPASTc.*1120A>T (n.*1120A>T)
c.1460A>T (p.Asn487Ile)
c.1457A>T (p.Asn486Ile)
c.1197A>T
c.1361A>T (p.Asn454Ile)
c.1234A>T
c.1202A>T (p.Asn401Ile)
c.527A>T
c.1040A>T
c.1336A>T
c.1106A>T (p.Asn369Ile)
n.2197A>T
c.910A>T
c.639A>T
c.1106A>T
c.1364A>T (p.Asn455Ile)
n.1152A>T
c.960A>T
2g.32137156_32137157dupCA2586964781SPASTc.*1121_*1122dup (n.*1121_*1122dup)
c.1461_1462dup (p.Arg488IlefsTer?)
c.1458_1459dup (p.Arg487IlefsTer?)
c.1198_1199dup
c.1362_1363dup (p.Arg455IlefsTer?)
c.1235_1236dup
c.1203_1204dup (p.Arg402IlefsTer?)
c.528_529dup
c.1041_1042dup
c.1337_1338dup
c.1107_1108dup (p.Arg370IlefsTer?)
n.2198_2199dup
c.911_912dup
c.640_641dup
c.1107_1108dup
c.1365_1366dup (p.Arg456IlefsTer?)
n.1153_1154dup
c.961_962dup
2g.32137156T>ACA346502479SPASTc.*1121T>A (n.*1121T>A)
c.1461T>A (p.Asn487Lys)
c.1458T>A (p.Asn486Lys)
c.1198T>A
c.1362T>A (p.Asn454Lys)
c.1235T>A
c.1203T>A (p.Asn401Lys)
c.528T>A
c.1041T>A
c.1337T>A
c.1107T>A (p.Asn369Lys)
n.2198T>A
c.911T>A
c.640T>A
c.1107T>A
c.1365T>A (p.Asn455Lys)
n.1153T>A
c.961T>A
2g.32137156T>CCA1600902SPASTc.*1121T>C (n.*1121T>C)
c.1461T>C (p.Asn487=)
c.1458T>C (p.Asn486=)
c.1198T>C
c.1362T>C (p.Asn454=)
c.1235T>C
c.1203T>C (p.Asn401=)
c.528T>C
c.1041T>C
c.1337T>C
c.1107T>C (p.Asn369=)
n.2198T>C
c.911T>C
c.640T>C
c.1107T>C
c.1365T>C (p.Asn455=)
n.1153T>C
c.961T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32137156T>GCA346502480SPASTc.*1121T>G (n.*1121T>G)
c.1461T>G (p.Asn487Lys)
c.1458T>G (p.Asn486Lys)
c.1198T>G
c.1362T>G (p.Asn454Lys)
c.1235T>G
c.1203T>G (p.Asn401Lys)
c.528T>G
c.1041T>G
c.1337T>G
c.1107T>G (p.Asn369Lys)
n.2198T>G
c.911T>G
c.640T>G
c.1107T>G
c.1365T>G (p.Asn455Lys)
n.1153T>G
c.961T>G
 ClinVar
2g.32137156T=CA1242502151SPASTc.*1121T= (n.*1121T=)
c.1461T= (p.Asn487=)
c.1458T= (p.Asn486=)
c.1198T=
c.1362T= (p.Asn454=)
c.1235T=
c.1203T= (p.Asn401=)
c.528T=
c.1041T=
c.1337T=
c.1107T= (p.Asn369=)
n.2198T=
c.911T=
c.640T=
c.1107T=
c.1365T= (p.Asn455=)
n.1153T=
c.961T=
2g.32137157_32137158insTTACA2582342362SPASTc.*1122_*1123insTTA (n.*1122_*1123insTTA)
c.1462_1463insTTA (p.Asn487_Arg488insIle)
c.1459_1460insTTA (p.Asn486_Arg487insIle)
c.1199_1200insTTA
c.1363_1364insTTA (p.Asn454_Arg455insIle)
c.1236_1237insTTA
c.1204_1205insTTA (p.Asn401_Arg402insIle)
c.529_530insTTA
c.1042_1043insTTA
c.1338_1339insTTA
c.1108_1109insTTA (p.Asn369_Arg370insIle)
n.2199_2200insTTA
c.912_913insTTA
c.641_642insTTA
c.1108_1109insTTA
c.1366_1367insTTA (p.Asn455_Arg456insIle)
n.1154_1155insTTA
c.962_963insTTA
 ClinVar
2g.32137157A=CA1242502157SPASTc.*1122A= (n.*1122A=)
c.1462A= (p.Arg488=)
c.1459A= (p.Arg487=)
c.1199A=
c.1363A= (p.Arg455=)
c.1236A=
c.1204A= (p.Arg402=)
c.529A=
c.1042A=
c.1338A=
c.1108A= (p.Arg370=)
n.2199A=
c.912A=
c.641A=
c.1108A=
c.1366A= (p.Arg456=)
n.1154A=
c.962A=
2g.32137157A>CCA425449204SPASTc.*1122A>C (n.*1122A>C)
c.1462A>C (p.Arg488=)
c.1459A>C (p.Arg487=)
c.1199A>C
c.1363A>C (p.Arg455=)
c.1236A>C
c.1204A>C (p.Arg402=)
c.529A>C
c.1042A>C
c.1338A>C
c.1108A>C (p.Arg370=)
n.2199A>C
c.912A>C
c.641A>C
c.1108A>C
c.1366A>C (p.Arg456=)
n.1154A>C
c.962A>C
2g.32137157A>GCA346502481SPASTc.*1122A>G (n.*1122A>G)
c.1462A>G (p.Arg488Gly)
c.1459A>G (p.Arg487Gly)
c.1199A>G
c.1363A>G (p.Arg455Gly)
c.1236A>G
c.1204A>G (p.Arg402Gly)
c.529A>G
c.1042A>G
c.1338A>G
c.1108A>G (p.Arg370Gly)
n.2199A>G
c.912A>G
c.641A>G
c.1108A>G
c.1366A>G (p.Arg456Gly)
n.1154A>G
c.962A>G
 ClinVar dbSNP
2g.32137157A>TCA346502482SPASTc.*1122A>T (n.*1122A>T)
c.1462A>T (p.Arg488Trp)
c.1459A>T (p.Arg487Trp)
c.1199A>T
c.1363A>T (p.Arg455Trp)
c.1236A>T
c.1204A>T (p.Arg402Trp)
c.529A>T
c.1042A>T
c.1338A>T
c.1108A>T (p.Arg370Trp)
n.2199A>T
c.912A>T
c.641A>T
c.1108A>T
c.1366A>T (p.Arg456Trp)
n.1154A>T
c.962A>T
 ClinVar dbSNP
2g.32137158G>ACA346502483SPASTc.*1123G>A (n.*1123G>A)
c.1463G>A (p.Arg488Lys)
c.1460G>A (p.Arg487Lys)
c.1200G>A
c.1364G>A (p.Arg455Lys)
c.1237G>A
c.1205G>A (p.Arg402Lys)
c.530G>A
c.1043G>A
c.1339G>A
c.1109G>A (p.Arg370Lys)
n.2200G>A
c.913G>A
c.642G>A
c.1109G>A
c.1367G>A (p.Arg456Lys)
n.1155G>A
c.963G>A
2g.32137158G>CCA346502484SPASTc.*1123G>C (n.*1123G>C)
c.1463G>C (p.Arg488Thr)
c.1460G>C (p.Arg487Thr)
c.1200G>C
c.1364G>C (p.Arg455Thr)
c.1237G>C
c.1205G>C (p.Arg402Thr)
c.530G>C
c.1043G>C
c.1339G>C
c.1109G>C (p.Arg370Thr)
n.2200G>C
c.913G>C
c.642G>C
c.1109G>C
c.1367G>C (p.Arg456Thr)
n.1155G>C
c.963G>C
2g.32137158G>TCA346502485SPASTc.*1123G>T (n.*1123G>T)
c.1463G>T (p.Arg488Met)
c.1460G>T (p.Arg487Met)
c.1200G>T
c.1364G>T (p.Arg455Met)
c.1237G>T
c.1205G>T (p.Arg402Met)
c.530G>T
c.1043G>T
c.1339G>T
c.1109G>T (p.Arg370Met)
n.2200G>T
c.913G>T
c.642G>T
c.1109G>T
c.1367G>T (p.Arg456Met)
n.1155G>T
c.963G>T
2g.32137158_32137159insATTACA2499215910SPASTc.*1123_*1124insATTA (n.*1123_*1124insATTA)
c.1463_1464insATTA (p.Pro489LeufsTer6)
c.1460_1461insATTA (p.Pro488LeufsTer6)
c.1200_1201insATTA
c.1364_1365insATTA (p.Pro456LeufsTer6)
c.1237_1238insATTA
c.1205_1206insATTA (p.Pro403LeufsTer6)
c.530_531insATTA
c.1043_1044insATTA
c.1339_1340insATTA
c.1109_1110insATTA (p.Pro371LeufsTer6)
n.2200_2201insATTA
c.913_914insATTA
c.642_643insATTA
c.1109_1110insATTA
c.1367_1368insATTA (p.Pro457LeufsTer6)
n.1155_1156insATTA
c.963_964insATTA
 ClinVar dbSNP
2g.32137159G>ACA425449205SPASTc.*1124G>A (n.*1124G>A)
c.1464G>A (p.Arg488=)
c.1461G>A (p.Arg487=)
c.1201G>A
c.1365G>A (p.Arg455=)
c.1238G>A
c.1206G>A (p.Arg402=)
c.531G>A
c.1044G>A
c.1340G>A
c.1110G>A (p.Arg370=)
n.2201G>A
c.914G>A
c.643G>A
c.1110G>A
c.1368G>A (p.Arg456=)
n.1156G>A
c.964G>A
2g.32137159G>CCA346502487SPASTc.*1124G>C (n.*1124G>C)
c.1464G>C (p.Arg488Ser)
c.1461G>C (p.Arg487Ser)
c.1201G>C
c.1365G>C (p.Arg455Ser)
c.1238G>C
c.1206G>C (p.Arg402Ser)
c.531G>C
c.1044G>C
c.1340G>C
c.1110G>C (p.Arg370Ser)
n.2201G>C
c.914G>C
c.643G>C
c.1110G>C
c.1368G>C (p.Arg456Ser)
n.1156G>C
c.964G>C
2g.32137159G>TCA346502486SPASTc.*1124G>T (n.*1124G>T)
c.1464G>T (p.Arg488Ser)
c.1461G>T (p.Arg487Ser)
c.1201G>T
c.1365G>T (p.Arg455Ser)
c.1238G>T
c.1206G>T (p.Arg402Ser)
c.531G>T
c.1044G>T
c.1340G>T
c.1110G>T (p.Arg370Ser)
n.2201G>T
c.914G>T
c.643G>T
c.1110G>T
c.1368G>T (p.Arg456Ser)
n.1156G>T
c.964G>T
2g.32137160C>ACA346502488SPASTc.*1125C>A (n.*1125C>A)
c.1465C>A (p.Pro489Thr)
c.1462C>A (p.Pro488Thr)
c.1202C>A
c.1366C>A (p.Pro456Thr)
c.1239C>A
c.1207C>A (p.Pro403Thr)
c.532C>A
c.1045C>A
c.1341C>A
c.1111C>A (p.Pro371Thr)
n.2202C>A
c.915C>A
c.644C>A
c.1111C>A
c.1369C>A (p.Pro457Thr)
n.1157C>A
c.965C>A
2g.32137160C>GCA346502489SPASTc.*1125C>G (n.*1125C>G)
c.1465C>G (p.Pro489Ala)
c.1462C>G (p.Pro488Ala)
c.1202C>G
c.1366C>G (p.Pro456Ala)
c.1239C>G
c.1207C>G (p.Pro403Ala)
c.532C>G
c.1045C>G
c.1341C>G
c.1111C>G (p.Pro371Ala)
n.2202C>G
c.915C>G
c.644C>G
c.1111C>G
c.1369C>G (p.Pro457Ala)
n.1157C>G
c.965C>G
2g.32137160C>TCA346502490SPASTc.*1125C>T (n.*1125C>T)
c.1465C>T (p.Pro489Ser)
c.1462C>T (p.Pro488Ser)
c.1202C>T
c.1366C>T (p.Pro456Ser)
c.1239C>T
c.1207C>T (p.Pro403Ser)
c.532C>T
c.1045C>T
c.1341C>T
c.1111C>T (p.Pro371Ser)
n.2202C>T
c.915C>T
c.644C>T
c.1111C>T
c.1369C>T (p.Pro457Ser)
n.1157C>T
c.965C>T
2g.32137161C>ACA346502491SPASTc.*1126C>A (n.*1126C>A)
c.1466C>A (p.Pro489Gln)
c.1463C>A (p.Pro488Gln)
c.1203C>A
c.1367C>A (p.Pro456Gln)
c.1240C>A
c.1208C>A (p.Pro403Gln)
c.533C>A
c.1046C>A
c.1342C>A
c.1112C>A (p.Pro371Gln)
n.2203C>A
c.916C>A
c.645C>A
c.1112C>A
c.1370C>A (p.Pro457Gln)
n.1158C>A
c.966C>A
2g.32137161C=CA1242502164SPASTc.*1126C= (n.*1126C=)
c.1466C= (p.Pro489=)
c.1463C= (p.Pro488=)
c.1203C=
c.1367C= (p.Pro456=)
c.1240C=
c.1208C= (p.Pro403=)
c.533C=
c.1046C=
c.1342C=
c.1112C= (p.Pro371=)
n.2203C=
c.916C=
c.645C=
c.1112C=
c.1370C= (p.Pro457=)
n.1158C=
c.966C=
2g.32137161C>GCA346502492SPASTc.*1126C>G (n.*1126C>G)
c.1466C>G (p.Pro489Arg)
c.1463C>G (p.Pro488Arg)
c.1203C>G
c.1367C>G (p.Pro456Arg)
c.1240C>G
c.1208C>G (p.Pro403Arg)
c.533C>G
c.1046C>G
c.1342C>G
c.1112C>G (p.Pro371Arg)
n.2203C>G
c.916C>G
c.645C>G
c.1112C>G
c.1370C>G (p.Pro457Arg)
n.1158C>G
c.966C>G
 dbSNP
2g.32137161C>TCA346502493SPASTc.*1126C>T (n.*1126C>T)
c.1466C>T (p.Pro489Leu)
c.1463C>T (p.Pro488Leu)
c.1203C>T
c.1367C>T (p.Pro456Leu)
c.1240C>T
c.1208C>T (p.Pro403Leu)
c.533C>T
c.1046C>T
c.1342C>T
c.1112C>T (p.Pro371Leu)
n.2203C>T
c.916C>T
c.645C>T
c.1112C>T
c.1370C>T (p.Pro457Leu)
n.1158C>T
c.966C>T
 ClinVar dbSNP
2g.32137162A>CCA425449206SPASTc.*1127A>C (n.*1127A>C)
c.1467A>C (p.Pro489=)
c.1464A>C (p.Pro488=)
c.1204A>C
c.1368A>C (p.Pro456=)
c.1241A>C
c.1209A>C (p.Pro403=)
c.534A>C
c.1047A>C
c.1343A>C
c.1113A>C (p.Pro371=)
n.2204A>C
c.917A>C
c.646A>C
c.1113A>C
c.1371A>C (p.Pro457=)
n.1159A>C
c.967A>C
2g.32137162A>GCA425449207SPASTc.*1127A>G (n.*1127A>G)
c.1467A>G (p.Pro489=)
c.1464A>G (p.Pro488=)
c.1204A>G
c.1368A>G (p.Pro456=)
c.1241A>G
c.1209A>G (p.Pro403=)
c.534A>G
c.1047A>G
c.1343A>G
c.1113A>G (p.Pro371=)
n.2204A>G
c.917A>G
c.646A>G
c.1113A>G
c.1371A>G (p.Pro457=)
n.1159A>G
c.967A>G
 gnomAD v4
2g.32137162A>TCA425449208SPASTc.*1127A>T (n.*1127A>T)
c.1467A>T (p.Pro489=)
c.1464A>T (p.Pro488=)
c.1204A>T
c.1368A>T (p.Pro456=)
c.1241A>T
c.1209A>T (p.Pro403=)
c.534A>T
c.1047A>T
c.1343A>T
c.1113A>T (p.Pro371=)
n.2204A>T
c.917A>T
c.646A>T
c.1113A>T
c.1371A>T (p.Pro457=)
n.1159A>T
c.967A>T
2g.32137163delCA2580066409SPASTc.*1128del (n.*1128del)
c.1468del (p.Gln490LysfsTer?)
c.1465del (p.Gln489LysfsTer?)
c.1205del
c.1369del (p.Gln457LysfsTer?)
c.1242del
c.1210del (p.Gln404LysfsTer?)
c.535del
c.1048del
c.1344del
c.1114del (p.Gln372LysfsTer?)
n.2205del
c.918del
c.647del
c.1114del
c.1372del (p.Gln458LysfsTer?)
n.1160del
c.968del
 ClinVar
2g.32137163C>ACA346502494SPASTc.*1128C>A (n.*1128C>A)
c.1468C>A (p.Gln490Lys)
c.1465C>A (p.Gln489Lys)
c.1205C>A
c.1369C>A (p.Gln457Lys)
c.1242C>A
c.1210C>A (p.Gln404Lys)
c.535C>A
c.1048C>A
c.1344C>A
c.1114C>A (p.Gln372Lys)
n.2205C>A
c.918C>A
c.647C>A
c.1114C>A
c.1372C>A (p.Gln458Lys)
n.1160C>A
c.968C>A
2g.32137163C=CA1242502170SPASTc.*1128C= (n.*1128C=)
c.1468C= (p.Gln490=)
c.1465C= (p.Gln489=)
c.1205C=
c.1369C= (p.Gln457=)
c.1242C=
c.1210C= (p.Gln404=)
c.535C=
c.1048C=
c.1344C=
c.1114C= (p.Gln372=)
n.2205C=
c.918C=
c.647C=
c.1114C=
c.1372C= (p.Gln458=)
n.1160C=
c.968C=
2g.32137163C>GCA346502495SPASTc.*1128C>G (n.*1128C>G)
c.1468C>G (p.Gln490Glu)
c.1465C>G (p.Gln489Glu)
c.1205C>G
c.1369C>G (p.Gln457Glu)
c.1242C>G
c.1210C>G (p.Gln404Glu)
c.535C>G
c.1048C>G
c.1344C>G
c.1114C>G (p.Gln372Glu)
n.2205C>G
c.918C>G
c.647C>G
c.1114C>G
c.1372C>G (p.Gln458Glu)
n.1160C>G
c.968C>G
2g.32137163C>TCA346502496SPASTc.*1128C>T (n.*1128C>T)
c.1468C>T (p.Gln490Ter)
c.1465C>T (p.Gln489Ter)
c.1205C>T
c.1369C>T (p.Gln457Ter)
c.1242C>T
c.1210C>T (p.Gln404Ter)
c.535C>T
c.1048C>T
c.1344C>T
c.1114C>T (p.Gln372Ter)
n.2205C>T
c.918C>T
c.647C>T
c.1114C>T
c.1372C>T (p.Gln458Ter)
n.1160C>T
c.968C>T
 ClinVar dbSNP
2g.32137163_32137165delinsCAACA1242502172SPASTc.*1128_*1130delinsCAA (n.*1128_*1130delinsCAA)
c.1468_1470delinsCAA (p.Gln490=)
c.1465_1467delinsCAA (p.Gln489=)
c.1205_1207delinsCAA
c.1369_1371delinsCAA (p.Gln457=)
c.1242_1244delinsCAA
c.1210_1212delinsCAA (p.Gln404=)
c.535_537delinsCAA
c.1048_1050delinsCAA
c.1344_1346delinsCAA
c.1114_1116delinsCAA (p.Gln372=)
n.2205_2207delinsCAA
c.918_920delinsCAA
c.647_649delinsCAA
c.1114_1116delinsCAA
c.1372_1374delinsCAA (p.Gln458=)
n.1160_1162delinsCAA
c.968_970delinsCAA
2g.32137164A>CCA346502497SPASTc.*1129A>C (n.*1129A>C)
c.1469A>C (p.Gln490Pro)
c.1466A>C (p.Gln489Pro)
c.1206A>C
c.1370A>C (p.Gln457Pro)
c.1243A>C
c.1211A>C (p.Gln404Pro)
c.536A>C
c.1049A>C
c.1345A>C
c.1115A>C (p.Gln372Pro)
n.2206A>C
c.919A>C
c.648A>C
c.1115A>C
c.1373A>C (p.Gln458Pro)
n.1161A>C
c.969A>C
2g.32137164A>GCA346502498SPASTc.*1129A>G (n.*1129A>G)
c.1469A>G (p.Gln490Arg)
c.1466A>G (p.Gln489Arg)
c.1206A>G
c.1370A>G (p.Gln457Arg)
c.1243A>G
c.1211A>G (p.Gln404Arg)
c.536A>G
c.1049A>G
c.1345A>G
c.1115A>G (p.Gln372Arg)
n.2206A>G
c.919A>G
c.648A>G
c.1115A>G
c.1373A>G (p.Gln458Arg)
n.1161A>G
c.969A>G
2g.32137164A>TCA346502499SPASTc.*1129A>T (n.*1129A>T)
c.1469A>T (p.Gln490Leu)
c.1466A>T (p.Gln489Leu)
c.1206A>T
c.1370A>T (p.Gln457Leu)
c.1243A>T
c.1211A>T (p.Gln404Leu)
c.536A>T
c.1049A>T
c.1345A>T
c.1115A>T (p.Gln372Leu)
n.2206A>T
c.919A>T
c.648A>T
c.1115A>T
c.1373A>T (p.Gln458Leu)
n.1161A>T
c.969A>T
2g.32137164_32137165delCA915943727SPASTc.*1129_*1130del (n.*1129_*1130del)
c.1469_1470del (p.Gln490ArgfsTer3)
c.1466_1467del (p.Gln489ArgfsTer3)
c.1206_1207del
c.1370_1371del (p.Gln457ArgfsTer3)
c.1243_1244del
c.1211_1212del (p.Gln404ArgfsTer3)
c.536_537del
c.1049_1050del
c.1345_1346del
c.1115_1116del (p.Gln372ArgfsTer3)
n.2206_2207del
c.919_920del
c.648_649del
c.1115_1116del
c.1373_1374del (p.Gln458ArgfsTer3)
n.1161_1162del
c.969_970del
 ClinVar dbSNP
2g.32137165delCA2586964782SPASTc.*1130del (n.*1130del)
c.1470del (p.Glu491SerfsTer?)
c.1467del (p.Glu490SerfsTer?)
c.1207del
c.1371del (p.Glu458SerfsTer?)
c.1244del
c.1212del (p.Glu405SerfsTer?)
c.537del
c.1050del
c.1346del
c.1116del (p.Glu373SerfsTer?)
n.2207del
c.920del
c.649del
c.1116del
c.1374del (p.Glu459SerfsTer?)
n.1162del
c.970del
2g.32137165A>CCA346502501SPASTc.*1130A>C (n.*1130A>C)
c.1470A>C (p.Gln490His)
c.1467A>C (p.Gln489His)
c.1207A>C
c.1371A>C (p.Gln457His)
c.1244A>C
c.1212A>C (p.Gln404His)
c.537A>C
c.1050A>C
c.1346A>C
c.1116A>C (p.Gln372His)
n.2207A>C
c.920A>C
c.649A>C
c.1116A>C
c.1374A>C (p.Gln458His)
n.1162A>C
c.970A>C
2g.32137165A>GCA425449209SPASTc.*1130A>G (n.*1130A>G)
c.1470A>G (p.Gln490=)
c.1467A>G (p.Gln489=)
c.1207A>G
c.1371A>G (p.Gln457=)
c.1244A>G
c.1212A>G (p.Gln404=)
c.537A>G
c.1050A>G
c.1346A>G
c.1116A>G (p.Gln372=)
n.2207A>G
c.920A>G
c.649A>G
c.1116A>G
c.1374A>G (p.Gln458=)
n.1162A>G
c.970A>G
2g.32137165A>TCA346502500SPASTc.*1130A>T (n.*1130A>T)
c.1470A>T (p.Gln490His)
c.1467A>T (p.Gln489His)
c.1207A>T
c.1371A>T (p.Gln457His)
c.1244A>T
c.1212A>T (p.Gln404His)
c.537A>T
c.1050A>T
c.1346A>T
c.1116A>T (p.Gln372His)
n.2207A>T
c.920A>T
c.649A>T
c.1116A>T
c.1374A>T (p.Gln458His)
n.1162A>T
c.970A>T
2g.32137166G>ACA346502502SPASTc.*1131G>A (n.*1131G>A)
c.1471G>A (p.Glu491Lys)
c.1468G>A (p.Glu490Lys)
c.1208G>A
c.1372G>A (p.Glu458Lys)
c.1245G>A
c.1213G>A (p.Glu405Lys)
c.538G>A
c.1051G>A
c.1347G>A
c.1117G>A (p.Glu373Lys)
n.2208G>A
c.921G>A
c.650G>A
c.1117G>A
c.1375G>A (p.Glu459Lys)
n.1163G>A
c.971G>A
2g.32137166G>CCA346502503SPASTc.*1131G>C (n.*1131G>C)
c.1471G>C (p.Glu491Gln)
c.1468G>C (p.Glu490Gln)
c.1208G>C
c.1372G>C (p.Glu458Gln)
c.1245G>C
c.1213G>C (p.Glu405Gln)
c.538G>C
c.1051G>C
c.1347G>C
c.1117G>C (p.Glu373Gln)
n.2208G>C
c.921G>C
c.650G>C
c.1117G>C
c.1375G>C (p.Glu459Gln)
n.1163G>C
c.971G>C
2g.32137166G>TCA346502504SPASTc.*1131G>T (n.*1131G>T)
c.1471G>T (p.Glu491Ter)
c.1468G>T (p.Glu490Ter)
c.1208G>T
c.1372G>T (p.Glu458Ter)
c.1245G>T
c.1213G>T (p.Glu405Ter)
c.538G>T
c.1051G>T
c.1347G>T
c.1117G>T (p.Glu373Ter)
n.2208G>T
c.921G>T
c.650G>T
c.1117G>T
c.1375G>T (p.Glu459Ter)
n.1163G>T
c.971G>T
2g.32137167A>CCA346502505SPASTc.*1132A>C (n.*1132A>C)
c.1472A>C (p.Glu491Ala)
c.1469A>C (p.Glu490Ala)
c.1209A>C
c.1373A>C (p.Glu458Ala)
c.1246A>C
c.1214A>C (p.Glu405Ala)
c.539A>C
c.1052A>C
c.1348A>C
c.1118A>C (p.Glu373Ala)
n.2209A>C
c.922A>C
c.651A>C
c.1118A>C
c.1376A>C (p.Glu459Ala)
n.1164A>C
c.972A>C
2g.32137167A>GCA346502506SPASTc.*1132A>G (n.*1132A>G)
c.1472A>G (p.Glu491Gly)
c.1469A>G (p.Glu490Gly)
c.1209A>G
c.1373A>G (p.Glu458Gly)
c.1246A>G
c.1214A>G (p.Glu405Gly)
c.539A>G
c.1052A>G
c.1348A>G
c.1118A>G (p.Glu373Gly)
n.2209A>G
c.922A>G
c.651A>G
c.1118A>G
c.1376A>G (p.Glu459Gly)
n.1164A>G
c.972A>G
 ClinVar dbSNP
2g.32137167A>TCA346502507SPASTc.*1132A>T (n.*1132A>T)
c.1472A>T (p.Glu491Val)
c.1469A>T (p.Glu490Val)
c.1209A>T
c.1373A>T (p.Glu458Val)
c.1246A>T
c.1214A>T (p.Glu405Val)
c.539A>T
c.1052A>T
c.1348A>T
c.1118A>T (p.Glu373Val)
n.2209A>T
c.922A>T
c.651A>T
c.1118A>T
c.1376A>T (p.Glu459Val)
n.1164A>T
c.972A>T
2g.32137168G>ACA425449210SPASTc.*1133G>A (n.*1133G>A)
c.1473G>A (p.Glu491=)
c.1470G>A (p.Glu490=)
c.1210G>A
c.1374G>A (p.Glu458=)
c.1247G>A
c.1215G>A (p.Glu405=)
c.540G>A
c.1053G>A
c.1349G>A
c.1119G>A (p.Glu373=)
n.2210G>A
c.923G>A
c.652G>A
c.1119G>A
c.1377G>A (p.Glu459=)
n.1165G>A
c.973G>A
2g.32137168G>CCA346502509SPASTc.*1133G>C (n.*1133G>C)
c.1473G>C (p.Glu491Asp)
c.1470G>C (p.Glu490Asp)
c.1210G>C
c.1374G>C (p.Glu458Asp)
c.1247G>C
c.1215G>C (p.Glu405Asp)
c.540G>C
c.1053G>C
c.1349G>C
c.1119G>C (p.Glu373Asp)
n.2210G>C
c.923G>C
c.652G>C
c.1119G>C
c.1377G>C (p.Glu459Asp)
n.1165G>C
c.973G>C
2g.32137168G>TCA346502508SPASTc.*1133G>T (n.*1133G>T)
c.1473G>T (p.Glu491Asp)
c.1470G>T (p.Glu490Asp)
c.1210G>T
c.1374G>T (p.Glu458Asp)
c.1247G>T
c.1215G>T (p.Glu405Asp)
c.540G>T
c.1053G>T
c.1349G>T
c.1119G>T (p.Glu373Asp)
n.2210G>T
c.923G>T
c.652G>T
c.1119G>T
c.1377G>T (p.Glu459Asp)
n.1165G>T
c.973G>T
2g.32137168_32137172delCA2586964783SPASTc.*1133_*1137del (n.*1133_*1137del)
c.1473_1477del (p.Leu492Ter)
c.1470_1474del (p.Leu491Ter)
c.1210_1214del
c.1374_1378del (p.Leu459Ter)
c.1247_1251del
c.1215_1219del (p.Leu406Ter)
c.540_544del
c.1053_1057del
c.1349_1353del
c.1119_1123del (p.Leu374Ter)
n.2210_2214del
c.923_927del
c.652_656del
c.1119_1123del
c.1377_1381del (p.Leu460Ter)
n.1165_1169del
c.973_977del
2g.32137169_32137172delCA2586964784SPASTc.*1134_*1137del (n.*1134_*1137del)
c.1474_1477del (p.Leu492MetfsTer?)
c.1471_1474del (p.Leu491MetfsTer?)
c.1211_1214del
c.1375_1378del (p.Leu459MetfsTer?)
c.1248_1251del
c.1216_1219del (p.Leu406MetfsTer?)
c.541_544del
c.1054_1057del
c.1350_1353del
c.1120_1123del (p.Leu374MetfsTer?)
n.2211_2214del
c.924_927del
c.653_656del
c.1120_1123del
c.1378_1381del (p.Leu460MetfsTer?)
n.1166_1169del
c.974_977del
2g.32137169C>ACA346502510SPASTc.*1134C>A (n.*1134C>A)
c.1474C>A (p.Leu492Ile)
c.1471C>A (p.Leu491Ile)
c.1211C>A
c.1375C>A (p.Leu459Ile)
c.1248C>A
c.1216C>A (p.Leu406Ile)
c.541C>A
c.1054C>A
c.1350C>A
c.1120C>A (p.Leu374Ile)
n.2211C>A
c.924C>A
c.653C>A
c.1120C>A
c.1378C>A (p.Leu460Ile)
n.1166C>A
c.974C>A
2g.32137169C=CA1242502182SPASTc.*1134C= (n.*1134C=)
c.1474C= (p.Leu492=)
c.1471C= (p.Leu491=)
c.1211C=
c.1375C= (p.Leu459=)
c.1248C=
c.1216C= (p.Leu406=)
c.541C=
c.1054C=
c.1350C=
c.1120C= (p.Leu374=)
n.2211C=
c.924C=
c.653C=
c.1120C=
c.1378C= (p.Leu460=)
n.1166C=
c.974C=
2g.32137169C>GCA346502511SPASTc.*1134C>G (n.*1134C>G)
c.1474C>G (p.Leu492Val)
c.1471C>G (p.Leu491Val)
c.1211C>G
c.1375C>G (p.Leu459Val)
c.1248C>G
c.1216C>G (p.Leu406Val)
c.541C>G
c.1054C>G
c.1350C>G
c.1120C>G (p.Leu374Val)
n.2211C>G
c.924C>G
c.653C>G
c.1120C>G
c.1378C>G (p.Leu460Val)
n.1166C>G
c.974C>G
2g.32137169C>TCA346502512SPASTc.*1134C>T (n.*1134C>T)
c.1474C>T (p.Leu492Phe)
c.1471C>T (p.Leu491Phe)
c.1211C>T
c.1375C>T (p.Leu459Phe)
c.1248C>T
c.1216C>T (p.Leu406Phe)
c.541C>T
c.1054C>T
c.1350C>T
c.1120C>T (p.Leu374Phe)
n.2211C>T
c.924C>T
c.653C>T
c.1120C>T
c.1378C>T (p.Leu460Phe)
n.1166C>T
c.974C>T
 dbSNP
2g.32137170T>ACA346502513SPASTc.*1135T>A (n.*1135T>A)
c.1475T>A (p.Leu492His)
c.1472T>A (p.Leu491His)
c.1212T>A
c.1376T>A (p.Leu459His)
c.1249T>A
c.1217T>A (p.Leu406His)
c.542T>A
c.1055T>A
c.1351T>A
c.1121T>A (p.Leu374His)
n.2212T>A
c.925T>A
c.654T>A
c.1121T>A
c.1379T>A (p.Leu460His)
n.1167T>A
c.975T>A
2g.32137170T>CCA346502514SPASTc.*1135T>C (n.*1135T>C)
c.1475T>C (p.Leu492Pro)
c.1472T>C (p.Leu491Pro)
c.1212T>C
c.1376T>C (p.Leu459Pro)
c.1249T>C
c.1217T>C (p.Leu406Pro)
c.542T>C
c.1055T>C
c.1351T>C
c.1121T>C (p.Leu374Pro)
n.2212T>C
c.925T>C
c.654T>C
c.1121T>C
c.1379T>C (p.Leu460Pro)
n.1167T>C
c.975T>C
2g.32137170T>GCA346502515SPASTc.*1135T>G (n.*1135T>G)
c.1475T>G (p.Leu492Arg)
c.1472T>G (p.Leu491Arg)
c.1212T>G
c.1376T>G (p.Leu459Arg)
c.1249T>G
c.1217T>G (p.Leu406Arg)
c.542T>G
c.1055T>G
c.1351T>G
c.1121T>G (p.Leu374Arg)
n.2212T>G
c.925T>G
c.654T>G
c.1121T>G
c.1379T>G (p.Leu460Arg)
n.1167T>G
c.975T>G
2g.32137170T=CA1242502186SPASTc.*1135T= (n.*1135T=)
c.1475T= (p.Leu492=)
c.1472T= (p.Leu491=)
c.1212T=
c.1376T= (p.Leu459=)
c.1249T=
c.1217T= (p.Leu406=)
c.542T=
c.1055T=
c.1351T=
c.1121T= (p.Leu374=)
n.2212T=
c.925T=
c.654T=
c.1121T=
c.1379T= (p.Leu460=)
n.1167T=
c.975T=
2g.32137171T>ACA425449211SPASTc.*1136T>A (n.*1136T>A)
c.1476T>A (p.Leu492=)
c.1473T>A (p.Leu491=)
c.1213T>A
c.1377T>A (p.Leu459=)
c.1250T>A
c.1218T>A (p.Leu406=)
c.543T>A
c.1056T>A
c.1352T>A
c.1122T>A (p.Leu374=)
n.2213T>A
c.926T>A
c.655T>A
c.1122T>A
c.1380T>A (p.Leu460=)
n.1168T>A
c.976T>A
2g.32137171T>CCA425449213SPASTc.*1136T>C (n.*1136T>C)
c.1476T>C (p.Leu492=)
c.1473T>C (p.Leu491=)
c.1213T>C
c.1377T>C (p.Leu459=)
c.1250T>C
c.1218T>C (p.Leu406=)
c.543T>C
c.1056T>C
c.1352T>C
c.1122T>C (p.Leu374=)
n.2213T>C
c.926T>C
c.655T>C
c.1122T>C
c.1380T>C (p.Leu460=)
n.1168T>C
c.976T>C
2g.32137171T>GCA425449212SPASTc.*1136T>G (n.*1136T>G)
c.1476T>G (p.Leu492=)
c.1473T>G (p.Leu491=)
c.1213T>G
c.1377T>G (p.Leu459=)
c.1250T>G
c.1218T>G (p.Leu406=)
c.543T>G
c.1056T>G
c.1352T>G
c.1122T>G (p.Leu374=)
n.2213T>G
c.926T>G
c.655T>G
c.1122T>G
c.1380T>G (p.Leu460=)
n.1168T>G
c.976T>G
2g.32137174_32137176dupCA16617530SPASTc.*1139_*1141dup (n.*1139_*1141dup)
c.1479_1481dup (p.Asp493_Glu494insAsp)
c.1476_1478dup (p.Asp492_Glu493insAsp)
c.1216_1218dup
c.1380_1382dup (p.Asp460_Glu461insAsp)
c.1253_1255dup
c.1221_1223dup (p.Asp407_Glu408insAsp)
c.546_548dup
c.1059_1061dup
c.1355_1357dup
c.1125_1127dup (p.Asp375_Glu376insAsp)
n.2216_2218dup
c.929_931dup
c.658_660dup
c.1125_1127dup
c.1383_1385dup (p.Asp461_Glu462insAsp)
n.1171_1173dup
c.979_981dup
 ClinVar dbSNP
2g.32137172delCA2658529302SPASTc.*1137del (n.*1137del)
c.1477del (p.Asp493MetfsTer?)
c.1474del (p.Asp492MetfsTer?)
c.1214del
c.1378del (p.Asp460MetfsTer?)
c.1251del
c.1219del (p.Asp407MetfsTer?)
c.544del
c.1057del
c.1353del
c.1123del (p.Asp375MetfsTer?)
n.2214del
c.927del
c.656del
c.1123del
c.1381del (p.Asp461MetfsTer?)
n.1169del
c.977del
 gnomAD v4
2g.32137172G>ACA346502516SPASTc.*1137G>A (n.*1137G>A)
c.1477G>A (p.Asp493Asn)
c.1474G>A (p.Asp492Asn)
c.1214G>A
c.1378G>A (p.Asp460Asn)
c.1251G>A
c.1219G>A (p.Asp407Asn)
c.544G>A
c.1057G>A
c.1353G>A
c.1123G>A (p.Asp375Asn)
n.2214G>A
c.927G>A
c.656G>A
c.1123G>A
c.1381G>A (p.Asp461Asn)
n.1169G>A
c.977G>A
2g.32137172G>CCA16616713SPASTc.*1137G>C (n.*1137G>C)
c.1477G>C (p.Asp493His)
c.1474G>C (p.Asp492His)
c.1214G>C
c.1378G>C (p.Asp460His)
c.1251G>C
c.1219G>C (p.Asp407His)
c.544G>C
c.1057G>C
c.1353G>C
c.1123G>C (p.Asp375His)
n.2214G>C
c.927G>C
c.656G>C
c.1123G>C
c.1381G>C (p.Asp461His)
n.1169G>C
c.977G>C
 ClinVar dbSNP
2g.32137172G=CA1242502194SPASTc.*1137G= (n.*1137G=)
c.1477G= (p.Asp493=)
c.1474G= (p.Asp492=)
c.1214G=
c.1378G= (p.Asp460=)
c.1251G=
c.1219G= (p.Asp407=)
c.544G=
c.1057G=
c.1353G=
c.1123G= (p.Asp375=)
n.2214G=
c.927G=
c.656G=
c.1123G=
c.1381G= (p.Asp461=)
n.1169G=
c.977G=
2g.32137172G>TCA16616712SPASTc.*1137G>T (n.*1137G>T)
c.1477G>T (p.Asp493Tyr)
c.1474G>T (p.Asp492Tyr)
c.1214G>T
c.1378G>T (p.Asp460Tyr)
c.1251G>T
c.1219G>T (p.Asp407Tyr)
c.544G>T
c.1057G>T
c.1353G>T
c.1123G>T (p.Asp375Tyr)
n.2214G>T
c.927G>T
c.656G>T
c.1123G>T
c.1381G>T (p.Asp461Tyr)
n.1169G>T
c.977G>T
 ClinVar dbSNP
2g.32137173A=CA1242502204SPASTc.*1138A= (n.*1138A=)
c.1478A= (p.Asp493=)
c.1475A= (p.Asp492=)
c.1215A=
c.1379A= (p.Asp460=)
c.1252A=
c.1220A= (p.Asp407=)
c.545A=
c.1058A=
c.1354A=
c.1124A= (p.Asp375=)
n.2215A=
c.928A=
c.657A=
c.1124A=
c.1382A= (p.Asp461=)
n.1170A=
c.978A=
2g.32137173A>CCA346502517SPASTc.*1138A>C (n.*1138A>C)
c.1478A>C (p.Asp493Ala)
c.1475A>C (p.Asp492Ala)
c.1215A>C
c.1379A>C (p.Asp460Ala)
c.1252A>C
c.1220A>C (p.Asp407Ala)
c.545A>C
c.1058A>C
c.1354A>C
c.1124A>C (p.Asp375Ala)
n.2215A>C
c.928A>C
c.657A>C
c.1124A>C
c.1382A>C (p.Asp461Ala)
n.1170A>C
c.978A>C
2g.32137173A>GCA346502518SPASTc.*1138A>G (n.*1138A>G)
c.1478A>G (p.Asp493Gly)
c.1475A>G (p.Asp492Gly)
c.1215A>G
c.1379A>G (p.Asp460Gly)
c.1252A>G
c.1220A>G (p.Asp407Gly)
c.545A>G
c.1058A>G
c.1354A>G
c.1124A>G (p.Asp375Gly)
n.2215A>G
c.928A>G
c.657A>G
c.1124A>G
c.1382A>G (p.Asp461Gly)
n.1170A>G
c.978A>G
 dbSNP
2g.32137173A>TCA346502519SPASTc.*1138A>T (n.*1138A>T)
c.1478A>T (p.Asp493Val)
c.1475A>T (p.Asp492Val)
c.1215A>T
c.1379A>T (p.Asp460Val)
c.1252A>T
c.1220A>T (p.Asp407Val)
c.545A>T
c.1058A>T
c.1354A>T
c.1124A>T (p.Asp375Val)
n.2215A>T
c.928A>T
c.657A>T
c.1124A>T
c.1382A>T (p.Asp461Val)
n.1170A>T
c.978A>T
2g.32137174T>ACA346502520SPASTc.*1139T>A (n.*1139T>A)
c.1479T>A (p.Asp493Glu)
c.1476T>A (p.Asp492Glu)
c.1216T>A
c.1380T>A (p.Asp460Glu)
c.1253T>A
c.1221T>A (p.Asp407Glu)
c.546T>A
c.1059T>A
c.1355T>A
c.1125T>A (p.Asp375Glu)
n.2216T>A
c.929T>A
c.658T>A
c.1125T>A
c.1383T>A (p.Asp461Glu)
n.1171T>A
c.979T>A
2g.32137174T>CCA425449216SPASTc.*1139T>C (n.*1139T>C)
c.1479T>C (p.Asp493=)
c.1476T>C (p.Asp492=)
c.1216T>C
c.1380T>C (p.Asp460=)
c.1253T>C
c.1221T>C (p.Asp407=)
c.546T>C
c.1059T>C
c.1355T>C
c.1125T>C (p.Asp375=)
n.2216T>C
c.929T>C
c.658T>C
c.1125T>C
c.1383T>C (p.Asp461=)
n.1171T>C
c.979T>C
2g.32137174T>GCA346502521SPASTc.*1139T>G (n.*1139T>G)
c.1479T>G (p.Asp493Glu)
c.1476T>G (p.Asp492Glu)
c.1216T>G
c.1380T>G (p.Asp460Glu)
c.1253T>G
c.1221T>G (p.Asp407Glu)
c.546T>G
c.1059T>G
c.1355T>G
c.1125T>G (p.Asp375Glu)
n.2216T>G
c.929T>G
c.658T>G
c.1125T>G
c.1383T>G (p.Asp461Glu)
n.1171T>G
c.979T>G
 gnomAD v4
2g.32137175delCA2586964785SPASTc.*1140del (n.*1140del)
c.1480del (p.Glu494ArgfsTer?)
c.1477del (p.Glu493ArgfsTer?)
c.1217del
c.1381del (p.Glu461ArgfsTer?)
c.1254del
c.1222del (p.Glu408ArgfsTer?)
c.547del
c.1060del
c.1356del
c.1126del (p.Glu376ArgfsTer?)
n.2217del
c.930del
c.659del
c.1126del
c.1384del (p.Glu462ArgfsTer?)
n.1172del
c.980del
2g.32137175G>ACA346502522SPASTc.*1140G>A (n.*1140G>A)
c.1480G>A (p.Glu494Lys)
c.1477G>A (p.Glu493Lys)
c.1217G>A
c.1381G>A (p.Glu461Lys)
c.1254G>A
c.1222G>A (p.Glu408Lys)
c.547G>A
c.1060G>A
c.1356G>A
c.1126G>A (p.Glu376Lys)
n.2217G>A
c.930G>A
c.659G>A
c.1126G>A
c.1384G>A (p.Glu462Lys)
n.1172G>A
c.980G>A
2g.32137175G>CCA346502523SPASTc.*1140G>C (n.*1140G>C)
c.1480G>C (p.Glu494Gln)
c.1477G>C (p.Glu493Gln)
c.1217G>C
c.1381G>C (p.Glu461Gln)
c.1254G>C
c.1222G>C (p.Glu408Gln)
c.547G>C
c.1060G>C
c.1356G>C
c.1126G>C (p.Glu376Gln)
n.2217G>C
c.930G>C
c.659G>C
c.1126G>C
c.1384G>C (p.Glu462Gln)
n.1172G>C
c.980G>C
2g.32137175G>TCA346502524SPASTc.*1140G>T (n.*1140G>T)
c.1480G>T (p.Glu494Ter)
c.1477G>T (p.Glu493Ter)
c.1217G>T
c.1381G>T (p.Glu461Ter)
c.1254G>T
c.1222G>T (p.Glu408Ter)
c.547G>T
c.1060G>T
c.1356G>T
c.1126G>T (p.Glu376Ter)
n.2217G>T
c.930G>T
c.659G>T
c.1126G>T
c.1384G>T (p.Glu462Ter)
n.1172G>T
c.980G>T

Number of alleles fetched