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.32136517A=CA1242500985SPASTc.*906-46A= (n.*906-46A=)
c.1246-46A= (n.1246-46A=)
c.1243-46A= (n.1243-46A=)
c.983-46A=
c.1147-46A= (n.1147-46A=)
c.1020-46A=
c.988-46A= (n.988-46A=)
c.405-46A=
c.826-46A=
c.1122-46A=
c.892-46A= (n.892-46A=)
n.1983-46A=
c.696-46A=
c.593-592A=
c.892-46A=
c.1150-46A= (n.1150-46A=)
n.938-46A=
c.746-46A=
2g.32136517A>GCA531501702SPASTc.*906-46A>G (n.*906-46A>G)
c.1246-46A>G (n.1246-46A>G)
c.1243-46A>G (n.1243-46A>G)
c.983-46A>G
c.1147-46A>G (n.1147-46A>G)
c.1020-46A>G
c.988-46A>G (n.988-46A>G)
c.405-46A>G
c.826-46A>G
c.1122-46A>G
c.892-46A>G (n.892-46A>G)
n.1983-46A>G
c.696-46A>G
c.593-592A>G
c.892-46A>G
c.1150-46A>G (n.1150-46A>G)
n.938-46A>G
c.746-46A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32136519A=CA1242500987SPASTc.*906-44A= (n.*906-44A=)
c.1246-44A= (n.1246-44A=)
c.1243-44A= (n.1243-44A=)
c.983-44A=
c.1147-44A= (n.1147-44A=)
c.1020-44A=
c.988-44A= (n.988-44A=)
c.405-44A=
c.826-44A=
c.1122-44A=
c.892-44A= (n.892-44A=)
n.1983-44A=
c.696-44A=
c.593-590A=
c.892-44A=
c.1150-44A= (n.1150-44A=)
n.938-44A=
c.746-44A=
2g.32136519A>GCA767792331SPASTc.*906-44A>G (n.*906-44A>G)
c.1246-44A>G (n.1246-44A>G)
c.1243-44A>G (n.1243-44A>G)
c.983-44A>G
c.1147-44A>G (n.1147-44A>G)
c.1020-44A>G
c.988-44A>G (n.988-44A>G)
c.405-44A>G
c.826-44A>G
c.1122-44A>G
c.892-44A>G (n.892-44A>G)
n.1983-44A>G
c.696-44A>G
c.593-590A>G
c.892-44A>G
c.1150-44A>G (n.1150-44A>G)
n.938-44A>G
c.746-44A>G
 dbSNP gnomAD v3 gnomAD v4
2g.32136520A=CA1242500990SPASTc.*906-43A= (n.*906-43A=)
c.1246-43A= (n.1246-43A=)
c.1243-43A= (n.1243-43A=)
c.983-43A=
c.1147-43A= (n.1147-43A=)
c.1020-43A=
c.988-43A= (n.988-43A=)
c.405-43A=
c.826-43A=
c.1122-43A=
c.892-43A= (n.892-43A=)
n.1983-43A=
c.696-43A=
c.593-589A=
c.892-43A=
c.1150-43A= (n.1150-43A=)
n.938-43A=
c.746-43A=
2g.32136520A>GCA1242500991SPASTc.*906-43A>G (n.*906-43A>G)
c.1246-43A>G (n.1246-43A>G)
c.1243-43A>G (n.1243-43A>G)
c.983-43A>G
c.1147-43A>G (n.1147-43A>G)
c.1020-43A>G
c.988-43A>G (n.988-43A>G)
c.405-43A>G
c.826-43A>G
c.1122-43A>G
c.892-43A>G (n.892-43A>G)
n.1983-43A>G
c.696-43A>G
c.593-589A>G
c.892-43A>G
c.1150-43A>G (n.1150-43A>G)
n.938-43A>G
c.746-43A>G
 dbSNP
2g.32136520A>TCA2658529142SPASTc.*906-43A>T (n.*906-43A>T)
c.1246-43A>T (n.1246-43A>T)
c.1243-43A>T (n.1243-43A>T)
c.983-43A>T
c.1147-43A>T (n.1147-43A>T)
c.1020-43A>T
c.988-43A>T (n.988-43A>T)
c.405-43A>T
c.826-43A>T
c.1122-43A>T
c.892-43A>T (n.892-43A>T)
n.1983-43A>T
c.696-43A>T
c.593-589A>T
c.892-43A>T
c.1150-43A>T (n.1150-43A>T)
n.938-43A>T
c.746-43A>T
 gnomAD v4
2g.32136522G>ACA1600852SPASTc.*906-41G>A (n.*906-41G>A)
c.1246-41G>A (n.1246-41G>A)
c.1243-41G>A (n.1243-41G>A)
c.983-41G>A
c.1147-41G>A (n.1147-41G>A)
c.1020-41G>A
c.988-41G>A (n.988-41G>A)
c.405-41G>A
c.826-41G>A
c.1122-41G>A
c.892-41G>A (n.892-41G>A)
n.1983-41G>A
c.696-41G>A
c.593-587G>A
c.892-41G>A
c.1150-41G>A (n.1150-41G>A)
n.938-41G>A
c.746-41G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136522G=CA1242500993SPASTc.*906-41G= (n.*906-41G=)
c.1246-41G= (n.1246-41G=)
c.1243-41G= (n.1243-41G=)
c.983-41G=
c.1147-41G= (n.1147-41G=)
c.1020-41G=
c.988-41G= (n.988-41G=)
c.405-41G=
c.826-41G=
c.1122-41G=
c.892-41G= (n.892-41G=)
n.1983-41G=
c.696-41G=
c.593-587G=
c.892-41G=
c.1150-41G= (n.1150-41G=)
n.938-41G=
c.746-41G=
2g.32136524T>CCA44749559SPASTc.*906-39T>C (n.*906-39T>C)
c.1246-39T>C (n.1246-39T>C)
c.1243-39T>C (n.1243-39T>C)
c.983-39T>C
c.1147-39T>C (n.1147-39T>C)
c.1020-39T>C
c.988-39T>C (n.988-39T>C)
c.405-39T>C
c.826-39T>C
c.1122-39T>C
c.892-39T>C (n.892-39T>C)
n.1983-39T>C
c.696-39T>C
c.593-585T>C
c.892-39T>C
c.1150-39T>C (n.1150-39T>C)
n.938-39T>C
c.746-39T>C
 dbSNP gnomAD v4
2g.32136524T=CA1242500996SPASTc.*906-39T= (n.*906-39T=)
c.1246-39T= (n.1246-39T=)
c.1243-39T= (n.1243-39T=)
c.983-39T=
c.1147-39T= (n.1147-39T=)
c.1020-39T=
c.988-39T= (n.988-39T=)
c.405-39T=
c.826-39T=
c.1122-39T=
c.892-39T= (n.892-39T=)
n.1983-39T=
c.696-39T=
c.593-585T=
c.892-39T=
c.1150-39T= (n.1150-39T=)
n.938-39T=
c.746-39T=
2g.32136525G>ACA2658529143SPASTc.*906-38G>A (n.*906-38G>A)
c.1246-38G>A (n.1246-38G>A)
c.1243-38G>A (n.1243-38G>A)
c.983-38G>A
c.1147-38G>A (n.1147-38G>A)
c.1020-38G>A
c.988-38G>A (n.988-38G>A)
c.405-38G>A
c.826-38G>A
c.1122-38G>A
c.892-38G>A (n.892-38G>A)
n.1983-38G>A
c.696-38G>A
c.593-584G>A
c.892-38G>A
c.1150-38G>A (n.1150-38G>A)
n.938-38G>A
c.746-38G>A
 gnomAD v4
2g.32136525G=CA1242500998SPASTc.*906-38G= (n.*906-38G=)
c.1246-38G= (n.1246-38G=)
c.1243-38G= (n.1243-38G=)
c.983-38G=
c.1147-38G= (n.1147-38G=)
c.1020-38G=
c.988-38G= (n.988-38G=)
c.405-38G=
c.826-38G=
c.1122-38G=
c.892-38G= (n.892-38G=)
n.1983-38G=
c.696-38G=
c.593-584G=
c.892-38G=
c.1150-38G= (n.1150-38G=)
n.938-38G=
c.746-38G=
2g.32136525G>TCA531501707SPASTc.*906-38G>T (n.*906-38G>T)
c.1246-38G>T (n.1246-38G>T)
c.1243-38G>T (n.1243-38G>T)
c.983-38G>T
c.1147-38G>T (n.1147-38G>T)
c.1020-38G>T
c.988-38G>T (n.988-38G>T)
c.405-38G>T
c.826-38G>T
c.1122-38G>T
c.892-38G>T (n.892-38G>T)
n.1983-38G>T
c.696-38G>T
c.593-584G>T
c.892-38G>T
c.1150-38G>T (n.1150-38G>T)
n.938-38G>T
c.746-38G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32136526C>ACA1029031942SPASTc.*906-37C>A (n.*906-37C>A)
c.1246-37C>A (n.1246-37C>A)
c.1243-37C>A (n.1243-37C>A)
c.983-37C>A
c.1147-37C>A (n.1147-37C>A)
c.1020-37C>A
c.988-37C>A (n.988-37C>A)
c.405-37C>A
c.826-37C>A
c.1122-37C>A
c.892-37C>A (n.892-37C>A)
n.1983-37C>A
c.696-37C>A
c.593-583C>A
c.892-37C>A
c.1150-37C>A (n.1150-37C>A)
n.938-37C>A
c.746-37C>A
 dbSNP gnomAD v3 gnomAD v4
2g.32136526C=CA1242501002SPASTc.*906-37C= (n.*906-37C=)
c.1246-37C= (n.1246-37C=)
c.1243-37C= (n.1243-37C=)
c.983-37C=
c.1147-37C= (n.1147-37C=)
c.1020-37C=
c.988-37C= (n.988-37C=)
c.405-37C=
c.826-37C=
c.1122-37C=
c.892-37C= (n.892-37C=)
n.1983-37C=
c.696-37C=
c.593-583C=
c.892-37C=
c.1150-37C= (n.1150-37C=)
n.938-37C=
c.746-37C=
2g.32136526C>TCA1600853SPASTc.*906-37C>T (n.*906-37C>T)
c.1246-37C>T (n.1246-37C>T)
c.1243-37C>T (n.1243-37C>T)
c.983-37C>T
c.1147-37C>T (n.1147-37C>T)
c.1020-37C>T
c.988-37C>T (n.988-37C>T)
c.405-37C>T
c.826-37C>T
c.1122-37C>T
c.892-37C>T (n.892-37C>T)
n.1983-37C>T
c.696-37C>T
c.593-583C>T
c.892-37C>T
c.1150-37C>T (n.1150-37C>T)
n.938-37C>T
c.746-37C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136527A=CA1242501007SPASTc.*906-36A= (n.*906-36A=)
c.1246-36A= (n.1246-36A=)
c.1243-36A= (n.1243-36A=)
c.983-36A=
c.1147-36A= (n.1147-36A=)
c.1020-36A=
c.988-36A= (n.988-36A=)
c.405-36A=
c.826-36A=
c.1122-36A=
c.892-36A= (n.892-36A=)
n.1983-36A=
c.696-36A=
c.593-582A=
c.892-36A=
c.1150-36A= (n.1150-36A=)
n.938-36A=
c.746-36A=
2g.32136527A>GCA531501709SPASTc.*906-36A>G (n.*906-36A>G)
c.1246-36A>G (n.1246-36A>G)
c.1243-36A>G (n.1243-36A>G)
c.983-36A>G
c.1147-36A>G (n.1147-36A>G)
c.1020-36A>G
c.988-36A>G (n.988-36A>G)
c.405-36A>G
c.826-36A>G
c.1122-36A>G
c.892-36A>G (n.892-36A>G)
n.1983-36A>G
c.696-36A>G
c.593-582A>G
c.892-36A>G
c.1150-36A>G (n.1150-36A>G)
n.938-36A>G
c.746-36A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32136530T>GCA2749393751SPASTc.*906-33T>G (n.*906-33T>G)
c.1246-33T>G (n.1246-33T>G)
c.1243-33T>G (n.1243-33T>G)
c.983-33T>G
c.1147-33T>G (n.1147-33T>G)
c.1020-33T>G
c.988-33T>G (n.988-33T>G)
c.405-33T>G
c.826-33T>G
c.1122-33T>G
c.892-33T>G (n.892-33T>G)
n.1983-33T>G
c.696-33T>G
c.593-579T>G
c.892-33T>G
c.1150-33T>G (n.1150-33T>G)
n.938-33T>G
c.746-33T>G
2g.32136531T>CCA2658529144SPASTc.*906-32T>C (n.*906-32T>C)
c.1246-32T>C (n.1246-32T>C)
c.1243-32T>C (n.1243-32T>C)
c.983-32T>C
c.1147-32T>C (n.1147-32T>C)
c.1020-32T>C
c.988-32T>C (n.988-32T>C)
c.405-32T>C
c.826-32T>C
c.1122-32T>C
c.892-32T>C (n.892-32T>C)
n.1983-32T>C
c.696-32T>C
c.593-578T>C
c.892-32T>C
c.1150-32T>C (n.1150-32T>C)
n.938-32T>C
c.746-32T>C
 gnomAD v4
2g.32136531T>GCA1242501009SPASTc.*906-32T>G (n.*906-32T>G)
c.1246-32T>G (n.1246-32T>G)
c.1243-32T>G (n.1243-32T>G)
c.983-32T>G
c.1147-32T>G (n.1147-32T>G)
c.1020-32T>G
c.988-32T>G (n.988-32T>G)
c.405-32T>G
c.826-32T>G
c.1122-32T>G
c.892-32T>G (n.892-32T>G)
n.1983-32T>G
c.696-32T>G
c.593-578T>G
c.892-32T>G
c.1150-32T>G (n.1150-32T>G)
n.938-32T>G
c.746-32T>G
 dbSNP
2g.32136531T=CA1242501010SPASTc.*906-32T= (n.*906-32T=)
c.1246-32T= (n.1246-32T=)
c.1243-32T= (n.1243-32T=)
c.983-32T=
c.1147-32T= (n.1147-32T=)
c.1020-32T=
c.988-32T= (n.988-32T=)
c.405-32T=
c.826-32T=
c.1122-32T=
c.892-32T= (n.892-32T=)
n.1983-32T=
c.696-32T=
c.593-578T=
c.892-32T=
c.1150-32T= (n.1150-32T=)
n.938-32T=
c.746-32T=
2g.32136532A>GCA2658529145SPASTc.*906-31A>G (n.*906-31A>G)
c.1246-31A>G (n.1246-31A>G)
c.1243-31A>G (n.1243-31A>G)
c.983-31A>G
c.1147-31A>G (n.1147-31A>G)
c.1020-31A>G
c.988-31A>G (n.988-31A>G)
c.405-31A>G
c.826-31A>G
c.1122-31A>G
c.892-31A>G (n.892-31A>G)
n.1983-31A>G
c.696-31A>G
c.593-577A>G
c.892-31A>G
c.1150-31A>G (n.1150-31A>G)
n.938-31A>G
c.746-31A>G
 gnomAD v4
2g.32136532A>TCA2658529146SPASTc.*906-31A>T (n.*906-31A>T)
c.1246-31A>T (n.1246-31A>T)
c.1243-31A>T (n.1243-31A>T)
c.983-31A>T
c.1147-31A>T (n.1147-31A>T)
c.1020-31A>T
c.988-31A>T (n.988-31A>T)
c.405-31A>T
c.826-31A>T
c.1122-31A>T
c.892-31A>T (n.892-31A>T)
n.1983-31A>T
c.696-31A>T
c.593-577A>T
c.892-31A>T
c.1150-31A>T (n.1150-31A>T)
n.938-31A>T
c.746-31A>T
 gnomAD v4
2g.32136533T>CCA2658529147SPASTc.*906-30T>C (n.*906-30T>C)
c.1246-30T>C (n.1246-30T>C)
c.1243-30T>C (n.1243-30T>C)
c.983-30T>C
c.1147-30T>C (n.1147-30T>C)
c.1020-30T>C
c.988-30T>C (n.988-30T>C)
c.405-30T>C
c.826-30T>C
c.1122-30T>C
c.892-30T>C (n.892-30T>C)
n.1983-30T>C
c.696-30T>C
c.593-576T>C
c.892-30T>C
c.1150-30T>C (n.1150-30T>C)
n.938-30T>C
c.746-30T>C
 gnomAD v4
2g.32136534G>CCA2749393752SPASTc.*906-29G>C (n.*906-29G>C)
c.1246-29G>C (n.1246-29G>C)
c.1243-29G>C (n.1243-29G>C)
c.983-29G>C
c.1147-29G>C (n.1147-29G>C)
c.1020-29G>C
c.988-29G>C (n.988-29G>C)
c.405-29G>C
c.826-29G>C
c.1122-29G>C
c.892-29G>C (n.892-29G>C)
n.1983-29G>C
c.696-29G>C
c.593-575G>C
c.892-29G>C
c.1150-29G>C (n.1150-29G>C)
n.938-29G>C
c.746-29G>C
2g.32136535T>CCA1600854SPASTc.*906-28T>C (n.*906-28T>C)
c.1246-28T>C (n.1246-28T>C)
c.1243-28T>C (n.1243-28T>C)
c.983-28T>C
c.1147-28T>C (n.1147-28T>C)
c.1020-28T>C
c.988-28T>C (n.988-28T>C)
c.405-28T>C
c.826-28T>C
c.1122-28T>C
c.892-28T>C (n.892-28T>C)
n.1983-28T>C
c.696-28T>C
c.593-574T>C
c.892-28T>C
c.1150-28T>C (n.1150-28T>C)
n.938-28T>C
c.746-28T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136535T=CA1242501012SPASTc.*906-28T= (n.*906-28T=)
c.1246-28T= (n.1246-28T=)
c.1243-28T= (n.1243-28T=)
c.983-28T=
c.1147-28T= (n.1147-28T=)
c.1020-28T=
c.988-28T= (n.988-28T=)
c.405-28T=
c.826-28T=
c.1122-28T=
c.892-28T= (n.892-28T=)
n.1983-28T=
c.696-28T=
c.593-574T=
c.892-28T=
c.1150-28T= (n.1150-28T=)
n.938-28T=
c.746-28T=
2g.32136536G>ACA2658529148SPASTc.*906-27G>A (n.*906-27G>A)
c.1246-27G>A (n.1246-27G>A)
c.1243-27G>A (n.1243-27G>A)
c.983-27G>A
c.1147-27G>A (n.1147-27G>A)
c.1020-27G>A
c.988-27G>A (n.988-27G>A)
c.405-27G>A
c.826-27G>A
c.1122-27G>A
c.892-27G>A (n.892-27G>A)
n.1983-27G>A
c.696-27G>A
c.593-573G>A
c.892-27G>A
c.1150-27G>A (n.1150-27G>A)
n.938-27G>A
c.746-27G>A
 gnomAD v4
2g.32136536G>CCA2749393753SPASTc.*906-27G>C (n.*906-27G>C)
c.1246-27G>C (n.1246-27G>C)
c.1243-27G>C (n.1243-27G>C)
c.983-27G>C
c.1147-27G>C (n.1147-27G>C)
c.1020-27G>C
c.988-27G>C (n.988-27G>C)
c.405-27G>C
c.826-27G>C
c.1122-27G>C
c.892-27G>C (n.892-27G>C)
n.1983-27G>C
c.696-27G>C
c.593-573G>C
c.892-27G>C
c.1150-27G>C (n.1150-27G>C)
n.938-27G>C
c.746-27G>C
2g.32136542_32136549delCA2580066404SPASTc.*906-21_*906-14del (n.*906-21_*906-14del)
c.1246-21_1246-14del (n.1246-21_1246-14del)
c.1243-21_1243-14del (n.1243-21_1243-14del)
c.983-21_983-14del
c.1147-21_1147-14del (n.1147-21_1147-14del)
c.1020-21_1020-14del
c.988-21_988-14del (n.988-21_988-14del)
c.405-21_405-14del
c.826-21_826-14del
c.1122-21_1122-14del
c.892-21_892-14del (n.892-21_892-14del)
n.1983-21_1983-14del
c.696-21_696-14del
c.593-567_593-560del
c.892-21_892-14del
c.1150-21_1150-14del (n.1150-21_1150-14del)
n.938-21_938-14del
c.746-21_746-14del
 ClinVar
2g.32136538A=CA1242501015SPASTc.*906-25A= (n.*906-25A=)
c.1246-25A= (n.1246-25A=)
c.1243-25A= (n.1243-25A=)
c.983-25A=
c.1147-25A= (n.1147-25A=)
c.1020-25A=
c.988-25A= (n.988-25A=)
c.405-25A=
c.826-25A=
c.1122-25A=
c.892-25A= (n.892-25A=)
n.1983-25A=
c.696-25A=
c.593-571A=
c.892-25A=
c.1150-25A= (n.1150-25A=)
n.938-25A=
c.746-25A=
2g.32136538A>GCA44749578SPASTc.*906-25A>G (n.*906-25A>G)
c.1246-25A>G (n.1246-25A>G)
c.1243-25A>G (n.1243-25A>G)
c.983-25A>G
c.1147-25A>G (n.1147-25A>G)
c.1020-25A>G
c.988-25A>G (n.988-25A>G)
c.405-25A>G
c.826-25A>G
c.1122-25A>G
c.892-25A>G (n.892-25A>G)
n.1983-25A>G
c.696-25A>G
c.593-571A>G
c.892-25A>G
c.1150-25A>G (n.1150-25A>G)
n.938-25A>G
c.746-25A>G
 dbSNP gnomAD v3 gnomAD v4
2g.32136539T>CCA2749393754SPASTc.*906-24T>C (n.*906-24T>C)
c.1246-24T>C (n.1246-24T>C)
c.1243-24T>C (n.1243-24T>C)
c.983-24T>C
c.1147-24T>C (n.1147-24T>C)
c.1020-24T>C
c.988-24T>C (n.988-24T>C)
c.405-24T>C
c.826-24T>C
c.1122-24T>C
c.892-24T>C (n.892-24T>C)
n.1983-24T>C
c.696-24T>C
c.593-570T>C
c.892-24T>C
c.1150-24T>C (n.1150-24T>C)
n.938-24T>C
c.746-24T>C
2g.32136539dupCA1600855SPASTc.*906-24dup (n.*906-24dup)
c.1246-24dup (n.1246-24dup)
c.1243-24dup (n.1243-24dup)
c.983-24dup
c.1147-24dup (n.1147-24dup)
c.1020-24dup
c.988-24dup (n.988-24dup)
c.405-24dup
c.826-24dup
c.1122-24dup
c.892-24dup (n.892-24dup)
n.1983-24dup
c.696-24dup
c.593-570dup
c.892-24dup
c.1150-24dup (n.1150-24dup)
n.938-24dup
c.746-24dup
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136541A>GCA2658529149SPASTc.*906-22A>G (n.*906-22A>G)
c.1246-22A>G (n.1246-22A>G)
c.1243-22A>G (n.1243-22A>G)
c.983-22A>G
c.1147-22A>G (n.1147-22A>G)
c.1020-22A>G
c.988-22A>G (n.988-22A>G)
c.405-22A>G
c.826-22A>G
c.1122-22A>G
c.892-22A>G (n.892-22A>G)
n.1983-22A>G
c.696-22A>G
c.593-568A>G
c.892-22A>G
c.1150-22A>G (n.1150-22A>G)
n.938-22A>G
c.746-22A>G
 gnomAD v4
2g.32136542C>ACA1600856SPASTc.*906-21C>A (n.*906-21C>A)
c.1246-21C>A (n.1246-21C>A)
c.1243-21C>A (n.1243-21C>A)
c.983-21C>A
c.1147-21C>A (n.1147-21C>A)
c.1020-21C>A
c.988-21C>A (n.988-21C>A)
c.405-21C>A
c.826-21C>A
c.1122-21C>A
c.892-21C>A (n.892-21C>A)
n.1983-21C>A
c.696-21C>A
c.593-567C>A
c.892-21C>A
c.1150-21C>A (n.1150-21C>A)
n.938-21C>A
c.746-21C>A
 dbSNP ExAC gnomAD v4
2g.32136542C=CA1242501018SPASTc.*906-21C= (n.*906-21C=)
c.1246-21C= (n.1246-21C=)
c.1243-21C= (n.1243-21C=)
c.983-21C=
c.1147-21C= (n.1147-21C=)
c.1020-21C=
c.988-21C= (n.988-21C=)
c.405-21C=
c.826-21C=
c.1122-21C=
c.892-21C= (n.892-21C=)
n.1983-21C=
c.696-21C=
c.593-567C=
c.892-21C=
c.1150-21C= (n.1150-21C=)
n.938-21C=
c.746-21C=
2g.32136543A=CA1242501021SPASTc.*906-20A= (n.*906-20A=)
c.1246-20A= (n.1246-20A=)
c.1243-20A= (n.1243-20A=)
c.983-20A=
c.1147-20A= (n.1147-20A=)
c.1020-20A=
c.988-20A= (n.988-20A=)
c.405-20A=
c.826-20A=
c.1122-20A=
c.892-20A= (n.892-20A=)
n.1983-20A=
c.696-20A=
c.593-566A=
c.892-20A=
c.1150-20A= (n.1150-20A=)
n.938-20A=
c.746-20A=
2g.32136543A>GCA2658529150SPASTc.*906-20A>G (n.*906-20A>G)
c.1246-20A>G (n.1246-20A>G)
c.1243-20A>G (n.1243-20A>G)
c.983-20A>G
c.1147-20A>G (n.1147-20A>G)
c.1020-20A>G
c.988-20A>G (n.988-20A>G)
c.405-20A>G
c.826-20A>G
c.1122-20A>G
c.892-20A>G (n.892-20A>G)
n.1983-20A>G
c.696-20A>G
c.593-566A>G
c.892-20A>G
c.1150-20A>G (n.1150-20A>G)
n.938-20A>G
c.746-20A>G
 gnomAD v4
2g.32136543A>TCA2576930379SPASTc.*906-20A>T (n.*906-20A>T)
c.1246-20A>T (n.1246-20A>T)
c.1243-20A>T (n.1243-20A>T)
c.983-20A>T
c.1147-20A>T (n.1147-20A>T)
c.1020-20A>T
c.988-20A>T (n.988-20A>T)
c.405-20A>T
c.826-20A>T
c.1122-20A>T
c.892-20A>T (n.892-20A>T)
n.1983-20A>T
c.696-20A>T
c.593-566A>T
c.892-20A>T
c.1150-20A>T (n.1150-20A>T)
n.938-20A>T
c.746-20A>T
2g.32136543_32136544insATCCA1242501022SPASTc.*906-20_*906-19insATC (n.*906-20_*906-19insATC)
c.1246-20_1246-19insATC (n.1246-20_1246-19insATC)
c.1243-20_1243-19insATC (n.1243-20_1243-19insATC)
c.983-20_983-19insATC
c.1147-20_1147-19insATC (n.1147-20_1147-19insATC)
c.1020-20_1020-19insATC
c.988-20_988-19insATC (n.988-20_988-19insATC)
c.405-20_405-19insATC
c.826-20_826-19insATC
c.1122-20_1122-19insATC
c.892-20_892-19insATC (n.892-20_892-19insATC)
n.1983-20_1983-19insATC
c.696-20_696-19insATC
c.593-566_593-565insATC
c.892-20_892-19insATC
c.1150-20_1150-19insATC (n.1150-20_1150-19insATC)
n.938-20_938-19insATC
c.746-20_746-19insATC
 dbSNP
2g.32136544G>ACA2658529151SPASTc.*906-19G>A (n.*906-19G>A)
c.1246-19G>A (n.1246-19G>A)
c.1243-19G>A (n.1243-19G>A)
c.983-19G>A
c.1147-19G>A (n.1147-19G>A)
c.1020-19G>A
c.988-19G>A (n.988-19G>A)
c.405-19G>A
c.826-19G>A
c.1122-19G>A
c.892-19G>A (n.892-19G>A)
n.1983-19G>A
c.696-19G>A
c.593-565G>A
c.892-19G>A
c.1150-19G>A (n.1150-19G>A)
n.938-19G>A
c.746-19G>A
 gnomAD v4
2g.32136545T>ACA1242501026SPASTc.*906-18T>A (n.*906-18T>A)
c.1246-18T>A (n.1246-18T>A)
c.1243-18T>A (n.1243-18T>A)
c.983-18T>A
c.1147-18T>A (n.1147-18T>A)
c.1020-18T>A
c.988-18T>A (n.988-18T>A)
c.405-18T>A
c.826-18T>A
c.1122-18T>A
c.892-18T>A (n.892-18T>A)
n.1983-18T>A
c.696-18T>A
c.593-564T>A
c.892-18T>A
c.1150-18T>A (n.1150-18T>A)
n.938-18T>A
c.746-18T>A
 dbSNP gnomAD v4
2g.32136545T=CA1242501025SPASTc.*906-18T= (n.*906-18T=)
c.1246-18T= (n.1246-18T=)
c.1243-18T= (n.1243-18T=)
c.983-18T=
c.1147-18T= (n.1147-18T=)
c.1020-18T=
c.988-18T= (n.988-18T=)
c.405-18T=
c.826-18T=
c.1122-18T=
c.892-18T= (n.892-18T=)
n.1983-18T=
c.696-18T=
c.593-564T=
c.892-18T=
c.1150-18T= (n.1150-18T=)
n.938-18T=
c.746-18T=
2g.32136546A=CA1242501029SPASTc.*906-17A= (n.*906-17A=)
c.1246-17A= (n.1246-17A=)
c.1243-17A= (n.1243-17A=)
c.983-17A=
c.1147-17A= (n.1147-17A=)
c.1020-17A=
c.988-17A= (n.988-17A=)
c.405-17A=
c.826-17A=
c.1122-17A=
c.892-17A= (n.892-17A=)
n.1983-17A=
c.696-17A=
c.593-563A=
c.892-17A=
c.1150-17A= (n.1150-17A=)
n.938-17A=
c.746-17A=
2g.32136546A>GCA767792341SPASTc.*906-17A>G (n.*906-17A>G)
c.1246-17A>G (n.1246-17A>G)
c.1243-17A>G (n.1243-17A>G)
c.983-17A>G
c.1147-17A>G (n.1147-17A>G)
c.1020-17A>G
c.988-17A>G (n.988-17A>G)
c.405-17A>G
c.826-17A>G
c.1122-17A>G
c.892-17A>G (n.892-17A>G)
n.1983-17A>G
c.696-17A>G
c.593-563A>G
c.892-17A>G
c.1150-17A>G (n.1150-17A>G)
n.938-17A>G
c.746-17A>G
 dbSNP gnomAD v4
2g.32136546A>TCA2576930381SPASTc.*906-17A>T (n.*906-17A>T)
c.1246-17A>T (n.1246-17A>T)
c.1243-17A>T (n.1243-17A>T)
c.983-17A>T
c.1147-17A>T (n.1147-17A>T)
c.1020-17A>T
c.988-17A>T (n.988-17A>T)
c.405-17A>T
c.826-17A>T
c.1122-17A>T
c.892-17A>T (n.892-17A>T)
n.1983-17A>T
c.696-17A>T
c.593-563A>T
c.892-17A>T
c.1150-17A>T (n.1150-17A>T)
n.938-17A>T
c.746-17A>T
2g.32136547T>ACA531501713SPASTc.*906-16T>A (n.*906-16T>A)
c.1246-16T>A (n.1246-16T>A)
c.1243-16T>A (n.1243-16T>A)
c.983-16T>A
c.1147-16T>A (n.1147-16T>A)
c.1020-16T>A
c.988-16T>A (n.988-16T>A)
c.405-16T>A
c.826-16T>A
c.1122-16T>A
c.892-16T>A (n.892-16T>A)
n.1983-16T>A
c.696-16T>A
c.593-562T>A
c.892-16T>A
c.1150-16T>A (n.1150-16T>A)
n.938-16T>A
c.746-16T>A
 dbSNP gnomAD v2 gnomAD v4
2g.32136547T=CA1242501032SPASTc.*906-16T= (n.*906-16T=)
c.1246-16T= (n.1246-16T=)
c.1243-16T= (n.1243-16T=)
c.983-16T=
c.1147-16T= (n.1147-16T=)
c.1020-16T=
c.988-16T= (n.988-16T=)
c.405-16T=
c.826-16T=
c.1122-16T=
c.892-16T= (n.892-16T=)
n.1983-16T=
c.696-16T=
c.593-562T=
c.892-16T=
c.1150-16T= (n.1150-16T=)
n.938-16T=
c.746-16T=
2g.32136547_32136551delinsTAATGCA1242501034SPASTc.*906-16_*906-12delinsTAATG (n.*906-16_*906-12delinsTAATG)
c.1246-16_1246-12delinsTAATG (n.1246-16_1246-12delinsTAATG)
c.1243-16_1243-12delinsTAATG (n.1243-16_1243-12delinsTAATG)
c.983-16_983-12delinsTAATG
c.1147-16_1147-12delinsTAATG (n.1147-16_1147-12delinsTAATG)
c.1020-16_1020-12delinsTAATG
c.988-16_988-12delinsTAATG (n.988-16_988-12delinsTAATG)
c.405-16_405-12delinsTAATG
c.826-16_826-12delinsTAATG
c.1122-16_1122-12delinsTAATG
c.892-16_892-12delinsTAATG (n.892-16_892-12delinsTAATG)
n.1983-16_1983-12delinsTAATG
c.696-16_696-12delinsTAATG
c.593-562_593-558delinsTAATG
c.892-16_892-12delinsTAATG
c.1150-16_1150-12delinsTAATG (n.1150-16_1150-12delinsTAATG)
n.938-16_938-12delinsTAATG
c.746-16_746-12delinsTAATG
2g.32136548_32136551delCA1242501036SPASTc.*906-15_*906-12del (n.*906-15_*906-12del)
c.1246-15_1246-12del (n.1246-15_1246-12del)
c.1243-15_1243-12del (n.1243-15_1243-12del)
c.983-15_983-12del
c.1147-15_1147-12del (n.1147-15_1147-12del)
c.1020-15_1020-12del
c.988-15_988-12del (n.988-15_988-12del)
c.405-15_405-12del
c.826-15_826-12del
c.1122-15_1122-12del
c.892-15_892-12del (n.892-15_892-12del)
n.1983-15_1983-12del
c.696-15_696-12del
c.593-561_593-558del
c.892-15_892-12del
c.1150-15_1150-12del (n.1150-15_1150-12del)
n.938-15_938-12del
c.746-15_746-12del
 dbSNP
2g.32136551G>ACA1600857SPASTc.*906-12G>A (n.*906-12G>A)
c.1246-12G>A (n.1246-12G>A)
c.1243-12G>A (n.1243-12G>A)
c.983-12G>A
c.1147-12G>A (n.1147-12G>A)
c.1020-12G>A
c.988-12G>A (n.988-12G>A)
c.405-12G>A
c.826-12G>A
c.1122-12G>A
c.892-12G>A (n.892-12G>A)
n.1983-12G>A
c.696-12G>A
c.593-558G>A
c.892-12G>A
c.1150-12G>A (n.1150-12G>A)
n.938-12G>A
c.746-12G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32136551G=CA1242501039SPASTc.*906-12G= (n.*906-12G=)
c.1246-12G= (n.1246-12G=)
c.1243-12G= (n.1243-12G=)
c.983-12G=
c.1147-12G= (n.1147-12G=)
c.1020-12G=
c.988-12G= (n.988-12G=)
c.405-12G=
c.826-12G=
c.1122-12G=
c.892-12G= (n.892-12G=)
n.1983-12G=
c.696-12G=
c.593-558G=
c.892-12G=
c.1150-12G= (n.1150-12G=)
n.938-12G=
c.746-12G=
2g.32136552C>ACA2658529152SPASTc.*906-11C>A (n.*906-11C>A)
c.1246-11C>A (n.1246-11C>A)
c.1243-11C>A (n.1243-11C>A)
c.983-11C>A
c.1147-11C>A (n.1147-11C>A)
c.1020-11C>A
c.988-11C>A (n.988-11C>A)
c.405-11C>A
c.826-11C>A
c.1122-11C>A
c.892-11C>A (n.892-11C>A)
n.1983-11C>A
c.696-11C>A
c.593-557C>A
c.892-11C>A
c.1150-11C>A (n.1150-11C>A)
n.938-11C>A
c.746-11C>A
 gnomAD v4
2g.32136553T>CCA2658529153SPASTc.*906-10T>C (n.*906-10T>C)
c.1246-10T>C (n.1246-10T>C)
c.1243-10T>C (n.1243-10T>C)
c.983-10T>C
c.1147-10T>C (n.1147-10T>C)
c.1020-10T>C
c.988-10T>C (n.988-10T>C)
c.405-10T>C
c.826-10T>C
c.1122-10T>C
c.892-10T>C (n.892-10T>C)
n.1983-10T>C
c.696-10T>C
c.593-556T>C
c.892-10T>C
c.1150-10T>C (n.1150-10T>C)
n.938-10T>C
c.746-10T>C
 gnomAD v4
2g.32136554T=CA1242501040SPASTc.*906-9T= (n.*906-9T=)
c.1246-9T= (n.1246-9T=)
c.1243-9T= (n.1243-9T=)
c.983-9T=
c.1147-9T= (n.1147-9T=)
c.1020-9T=
c.988-9T= (n.988-9T=)
c.405-9T=
c.826-9T=
c.1122-9T=
c.892-9T= (n.892-9T=)
n.1983-9T=
c.696-9T=
c.593-555T=
c.892-9T=
c.1150-9T= (n.1150-9T=)
n.938-9T=
c.746-9T=
2g.32136555_32136556insCCTCA1242501043SPASTc.*906-8_*906-7insCCT (n.*906-8_*906-7insCCT)
c.1246-8_1246-7insCCT (n.1246-8_1246-7insCCT)
c.1243-8_1243-7insCCT (n.1243-8_1243-7insCCT)
c.983-8_983-7insCCT
c.1147-8_1147-7insCCT (n.1147-8_1147-7insCCT)
c.1020-8_1020-7insCCT
c.988-8_988-7insCCT (n.988-8_988-7insCCT)
c.405-8_405-7insCCT
c.826-8_826-7insCCT
c.1122-8_1122-7insCCT
c.892-8_892-7insCCT (n.892-8_892-7insCCT)
n.1983-8_1983-7insCCT
c.696-8_696-7insCCT
c.593-554_593-553insCCT
c.892-8_892-7insCCT
c.1150-8_1150-7insCCT (n.1150-8_1150-7insCCT)
n.938-8_938-7insCCT
c.746-8_746-7insCCT
 dbSNP
2g.32136556G>ACA1242501049SPASTc.*906-7G>A (n.*906-7G>A)
c.1246-7G>A (n.1246-7G>A)
c.1243-7G>A (n.1243-7G>A)
c.983-7G>A
c.1147-7G>A (n.1147-7G>A)
c.1020-7G>A
c.988-7G>A (n.988-7G>A)
c.405-7G>A
c.826-7G>A
c.1122-7G>A
c.892-7G>A (n.892-7G>A)
n.1983-7G>A
c.696-7G>A
c.593-553G>A
c.892-7G>A
c.1150-7G>A (n.1150-7G>A)
n.938-7G>A
c.746-7G>A
 dbSNP
2g.32136556G=CA1242501045SPASTc.*906-7G= (n.*906-7G=)
c.1246-7G= (n.1246-7G=)
c.1243-7G= (n.1243-7G=)
c.983-7G=
c.1147-7G= (n.1147-7G=)
c.1020-7G=
c.988-7G= (n.988-7G=)
c.405-7G=
c.826-7G=
c.1122-7G=
c.892-7G= (n.892-7G=)
n.1983-7G=
c.696-7G=
c.593-553G=
c.892-7G=
c.1150-7G= (n.1150-7G=)
n.938-7G=
c.746-7G=
2g.32136559_32136561delinsCTCA2586964736SPASTc.*906-4_*906-2delinsCT (n.*906-4_*906-2delinsCT)
c.1246-4_1246-2delinsCT (n.1246-4_1246-2delinsCT)
c.1243-4_1243-2delinsCT (n.1243-4_1243-2delinsCT)
c.983-4_983-2delinsCT
c.1147-4_1147-2delinsCT (n.1147-4_1147-2delinsCT)
c.1020-4_1020-2delinsCT
c.988-4_988-2delinsCT (n.988-4_988-2delinsCT)
c.405-4_405-2delinsCT
c.826-4_826-2delinsCT
c.1122-4_1122-2delinsCT
c.892-4_892-2delinsCT (n.892-4_892-2delinsCT)
n.1983-4_1983-2delinsCT
c.696-4_696-2delinsCT
c.593-550_593-548delinsCT
c.892-4_892-2delinsCT
c.1150-4_1150-2delinsCT (n.1150-4_1150-2delinsCT)
n.938-4_938-2delinsCT
c.746-4_746-2delinsCT
2g.32136559_32136565delinsTTAGGTGCA1242501052SPASTc.*906-4_*908delinsTTAGGTG
c.1246-4_1248delinsTTAGGTG
c.1243-4_1245delinsTTAGGTG
c.983-4_985delinsTTAGGTG
c.1147-4_1149delinsTTAGGTG
c.1020-4_1022delinsTTAGGTG
c.988-4_990delinsTTAGGTG
c.405-4_407delinsTTAGGTG
c.826-4_828delinsTTAGGTG
c.1122-4_1124delinsTTAGGTG
c.892-4_894delinsTTAGGTG
n.1983-4_1985delinsTTAGGTG
c.696-4_698delinsTTAGGTG
c.593-550_593-544delinsTTAGGTG
c.1150-4_1152delinsTTAGGTG
n.938-4_940delinsTTAGGTG
c.746-4_748delinsTTAGGTG
2g.32136560T>CCA2658529154SPASTc.*906-3T>C (n.*906-3T>C)
c.1246-3T>C (n.1246-3T>C)
c.1243-3T>C (n.1243-3T>C)
c.983-3T>C
c.1147-3T>C (n.1147-3T>C)
c.1020-3T>C
c.988-3T>C (n.988-3T>C)
c.405-3T>C
c.826-3T>C
c.1122-3T>C
c.892-3T>C (n.892-3T>C)
n.1983-3T>C
c.696-3T>C
c.593-549T>C
c.892-3T>C
c.1150-3T>C (n.1150-3T>C)
n.938-3T>C
c.746-3T>C
 gnomAD v4
2g.32136560T>GCA2658529155SPASTc.*906-3T>G (n.*906-3T>G)
c.1246-3T>G (n.1246-3T>G)
c.1243-3T>G (n.1243-3T>G)
c.983-3T>G
c.1147-3T>G (n.1147-3T>G)
c.1020-3T>G
c.988-3T>G (n.988-3T>G)
c.405-3T>G
c.826-3T>G
c.1122-3T>G
c.892-3T>G (n.892-3T>G)
n.1983-3T>G
c.696-3T>G
c.593-549T>G
c.892-3T>G
c.1150-3T>G (n.1150-3T>G)
n.938-3T>G
c.746-3T>G
 gnomAD v4
2g.32136560_32136565delCA1242501053SPASTc.*906-3_*908del
c.1246-3_1248del
c.1243-3_1245del
c.983-3_985del
c.1147-3_1149del
c.1020-3_1022del
c.988-3_990del
c.405-3_407del
c.826-3_828del
c.1122-3_1124del
c.892-3_894del
n.1983-3_1985del
c.696-3_698del
c.593-549_593-544del
c.1150-3_1152del
n.938-3_940del
c.746-3_748del
 dbSNP
2g.32136561A=CA1242501056SPASTc.*906-2A= (n.*906-2A=)
c.1246-2A= (n.1246-2A=)
c.1243-2A= (n.1243-2A=)
c.983-2A=
c.1147-2A= (n.1147-2A=)
c.1020-2A=
c.988-2A= (n.988-2A=)
c.405-2A=
c.826-2A=
c.1122-2A=
c.892-2A= (n.892-2A=)
n.1983-2A=
c.696-2A=
c.593-548A=
c.892-2A=
c.1150-2A= (n.1150-2A=)
n.938-2A=
c.746-2A=
2g.32136561A>CCA346501809SPASTc.*906-2A>C (n.*906-2A>C)
c.1246-2A>C (n.1246-2A>C)
c.1243-2A>C (n.1243-2A>C)
c.983-2A>C
c.1147-2A>C (n.1147-2A>C)
c.1020-2A>C
c.988-2A>C (n.988-2A>C)
c.405-2A>C
c.826-2A>C
c.1122-2A>C
c.892-2A>C (n.892-2A>C)
n.1983-2A>C
c.696-2A>C
c.593-548A>C
c.892-2A>C
c.1150-2A>C (n.1150-2A>C)
n.938-2A>C
c.746-2A>C
2g.32136561A>GCA346501811SPASTc.*906-2A>G (n.*906-2A>G)
c.1246-2A>G (n.1246-2A>G)
c.1243-2A>G (n.1243-2A>G)
c.983-2A>G
c.1147-2A>G (n.1147-2A>G)
c.1020-2A>G
c.988-2A>G (n.988-2A>G)
c.405-2A>G
c.826-2A>G
c.1122-2A>G
c.892-2A>G (n.892-2A>G)
n.1983-2A>G
c.696-2A>G
c.593-548A>G
c.892-2A>G
c.1150-2A>G (n.1150-2A>G)
n.938-2A>G
c.746-2A>G
 dbSNP
2g.32136561A>TCA346501814SPASTc.*906-2A>T (n.*906-2A>T)
c.1246-2A>T (n.1246-2A>T)
c.1243-2A>T (n.1243-2A>T)
c.983-2A>T
c.1147-2A>T (n.1147-2A>T)
c.1020-2A>T
c.988-2A>T (n.988-2A>T)
c.405-2A>T
c.826-2A>T
c.1122-2A>T
c.892-2A>T (n.892-2A>T)
n.1983-2A>T
c.696-2A>T
c.593-548A>T
c.892-2A>T
c.1150-2A>T (n.1150-2A>T)
n.938-2A>T
c.746-2A>T
2g.32136562G>ACA346501816SPASTc.*906-1G>A (n.*906-1G>A)
c.1246-1G>A (n.1246-1G>A)
c.1243-1G>A (n.1243-1G>A)
c.983-1G>A
c.1147-1G>A (n.1147-1G>A)
c.1020-1G>A
c.988-1G>A (n.988-1G>A)
c.405-1G>A
c.826-1G>A
c.1122-1G>A
c.892-1G>A (n.892-1G>A)
n.1983-1G>A
c.696-1G>A
c.593-547G>A
c.892-1G>A
c.1150-1G>A (n.1150-1G>A)
n.938-1G>A
c.746-1G>A
 ClinVar
2g.32136562G>CCA346501817SPASTc.*906-1G>C (n.*906-1G>C)
c.1246-1G>C (n.1246-1G>C)
c.1243-1G>C (n.1243-1G>C)
c.983-1G>C
c.1147-1G>C (n.1147-1G>C)
c.1020-1G>C
c.988-1G>C (n.988-1G>C)
c.405-1G>C
c.826-1G>C
c.1122-1G>C
c.892-1G>C (n.892-1G>C)
n.1983-1G>C
c.696-1G>C
c.593-547G>C
c.892-1G>C
c.1150-1G>C (n.1150-1G>C)
n.938-1G>C
c.746-1G>C
 dbSNP
2g.32136562G=CA1242501058SPASTc.*906-1G= (n.*906-1G=)
c.1246-1G= (n.1246-1G=)
c.1243-1G= (n.1243-1G=)
c.983-1G=
c.1147-1G= (n.1147-1G=)
c.1020-1G=
c.988-1G= (n.988-1G=)
c.405-1G=
c.826-1G=
c.1122-1G=
c.892-1G= (n.892-1G=)
n.1983-1G=
c.696-1G=
c.593-547G=
c.892-1G=
c.1150-1G= (n.1150-1G=)
n.938-1G=
c.746-1G=
2g.32136562G>TCA346501819SPASTc.*906-1G>T (n.*906-1G>T)
c.1246-1G>T (n.1246-1G>T)
c.1243-1G>T (n.1243-1G>T)
c.983-1G>T
c.1147-1G>T (n.1147-1G>T)
c.1020-1G>T
c.988-1G>T (n.988-1G>T)
c.405-1G>T
c.826-1G>T
c.1122-1G>T
c.892-1G>T (n.892-1G>T)
n.1983-1G>T
c.696-1G>T
c.593-547G>T
c.892-1G>T
c.1150-1G>T (n.1150-1G>T)
n.938-1G>T
c.746-1G>T
2g.32136563_32136567delCA2586964737SPASTc.*906_*910del
c.1246_1250del
c.1243_1247del
c.983_987del
c.1147_1151del
c.1020_1024del
c.988_992del
c.405_409del
c.826_830del
c.1122_1126del
c.892_896del
n.1983_1987del
c.696_700del
c.593-546_593-542del
c.1150_1154del
n.938_942del
c.746_750del
2g.32136563G>ACA44749597SPASTc.*906G>A (n.*906G>A)
c.1246G>A (p.Val416Met)
c.1243G>A (p.Val415Met)
c.983G>A
c.1147G>A (p.Val383Met)
c.1020G>A
c.988G>A (p.Val330Met)
c.405G>A
c.826G>A
c.1122G>A
c.892G>A (p.Val298Met)
n.1983G>A
c.696G>A
c.593-546G>A
c.892G>A
c.1150G>A (p.Val384Met)
n.938G>A
c.746G>A
 ClinVar dbSNP gnomAD v4
2g.32136563G>CCA346501821SPASTc.*906G>C (n.*906G>C)
c.1246G>C (p.Val416Leu)
c.1243G>C (p.Val415Leu)
c.983G>C
c.1147G>C (p.Val383Leu)
c.1020G>C
c.988G>C (p.Val330Leu)
c.405G>C
c.826G>C
c.1122G>C
c.892G>C (p.Val298Leu)
n.1983G>C
c.696G>C
c.593-546G>C
c.892G>C
c.1150G>C (p.Val384Leu)
n.938G>C
c.746G>C
2g.32136563G=CA1242501059SPASTc.*906G= (n.*906G=)
c.1246G= (p.Val416=)
c.1243G= (p.Val415=)
c.983G=
c.1147G= (p.Val383=)
c.1020G=
c.988G= (p.Val330=)
c.405G=
c.826G=
c.1122G=
c.892G= (p.Val298=)
n.1983G=
c.696G=
c.593-546G=
c.892G=
c.1150G= (p.Val384=)
n.938G=
c.746G=
2g.32136563G>TCA346501822SPASTc.*906G>T (n.*906G>T)
c.1246G>T (p.Val416Leu)
c.1243G>T (p.Val415Leu)
c.983G>T
c.1147G>T (p.Val383Leu)
c.1020G>T
c.988G>T (p.Val330Leu)
c.405G>T
c.826G>T
c.1122G>T
c.892G>T (p.Val298Leu)
n.1983G>T
c.696G>T
c.593-546G>T
c.892G>T
c.1150G>T (p.Val384Leu)
n.938G>T
c.746G>T
2g.32136564T>ACA346501828SPASTc.*907T>A (n.*907T>A)
c.1247T>A (p.Val416Glu)
c.1244T>A (p.Val415Glu)
c.984T>A
c.1148T>A (p.Val383Glu)
c.1021T>A
c.989T>A (p.Val330Glu)
c.406T>A
c.827T>A
c.1123T>A
c.893T>A (p.Val298Glu)
n.1984T>A
c.697T>A
c.593-545T>A
c.893T>A
c.1151T>A (p.Val384Glu)
n.939T>A
c.747T>A
2g.32136564T>CCA346501824SPASTc.*907T>C (n.*907T>C)
c.1247T>C (p.Val416Ala)
c.1244T>C (p.Val415Ala)
c.984T>C
c.1148T>C (p.Val383Ala)
c.1021T>C
c.989T>C (p.Val330Ala)
c.406T>C
c.827T>C
c.1123T>C
c.893T>C (p.Val298Ala)
n.1984T>C
c.697T>C
c.593-545T>C
c.893T>C
c.1151T>C (p.Val384Ala)
n.939T>C
c.747T>C
 ClinVar dbSNP
2g.32136564T>GCA346501826SPASTc.*907T>G (n.*907T>G)
c.1247T>G (p.Val416Gly)
c.1244T>G (p.Val415Gly)
c.984T>G
c.1148T>G (p.Val383Gly)
c.1021T>G
c.989T>G (p.Val330Gly)
c.406T>G
c.827T>G
c.1123T>G
c.893T>G (p.Val298Gly)
n.1984T>G
c.697T>G
c.593-545T>G
c.893T>G
c.1151T>G (p.Val384Gly)
n.939T>G
c.747T>G
2g.32136564T=CA1242501064SPASTc.*907T= (n.*907T=)
c.1247T= (p.Val416=)
c.1244T= (p.Val415=)
c.984T=
c.1148T= (p.Val383=)
c.1021T=
c.989T= (p.Val330=)
c.406T=
c.827T=
c.1123T=
c.893T= (p.Val298=)
n.1984T=
c.697T=
c.593-545T=
c.893T=
c.1151T= (p.Val384=)
n.939T=
c.747T=
2g.32136565G>ACA425447542SPASTc.*908G>A (n.*908G>A)
c.1248G>A (p.Val416=)
c.1245G>A (p.Val415=)
c.985G>A
c.1149G>A (p.Val383=)
c.1022G>A
c.990G>A (p.Val330=)
c.407G>A
c.828G>A
c.1124G>A
c.894G>A (p.Val298=)
n.1985G>A
c.698G>A
c.593-544G>A
c.894G>A
c.1152G>A (p.Val384=)
n.940G>A
c.748G>A
2g.32136565G>CCA425447544SPASTc.*908G>C (n.*908G>C)
c.1248G>C (p.Val416=)
c.1245G>C (p.Val415=)
c.985G>C
c.1149G>C (p.Val383=)
c.1022G>C
c.990G>C (p.Val330=)
c.407G>C
c.828G>C
c.1124G>C
c.894G>C (p.Val298=)
n.1985G>C
c.698G>C
c.593-544G>C
c.894G>C
c.1152G>C (p.Val384=)
n.940G>C
c.748G>C
2g.32136565G>TCA425447547SPASTc.*908G>T (n.*908G>T)
c.1248G>T (p.Val416=)
c.1245G>T (p.Val415=)
c.985G>T
c.1149G>T (p.Val383=)
c.1022G>T
c.990G>T (p.Val330=)
c.407G>T
c.828G>T
c.1124G>T
c.894G>T (p.Val298=)
n.1985G>T
c.698G>T
c.593-544G>T
c.894G>T
c.1152G>T (p.Val384=)
n.940G>T
c.748G>T
 COSMIC
2g.32136566G>ACA346501830SPASTc.*909G>A (n.*909G>A)
c.1249G>A (p.Gly417Arg)
c.1246G>A (p.Gly416Arg)
c.986G>A
c.1150G>A (p.Gly384Arg)
c.1023G>A
c.991G>A (p.Gly331Arg)
c.408G>A
c.829G>A
c.1125G>A
c.895G>A (p.Gly299Arg)
n.1986G>A
c.699G>A
c.593-543G>A
c.895G>A
c.1153G>A (p.Gly385Arg)
n.941G>A
c.749G>A
2g.32136566G>CCA346501831SPASTc.*909G>C (n.*909G>C)
c.1249G>C (p.Gly417Arg)
c.1246G>C (p.Gly416Arg)
c.986G>C
c.1150G>C (p.Gly384Arg)
c.1023G>C
c.991G>C (p.Gly331Arg)
c.408G>C
c.829G>C
c.1125G>C
c.895G>C (p.Gly299Arg)
n.1986G>C
c.699G>C
c.593-543G>C
c.895G>C
c.1153G>C (p.Gly385Arg)
n.941G>C
c.749G>C
2g.32136566G>TCA346501832SPASTc.*909G>T (n.*909G>T)
c.1249G>T (p.Gly417Ter)
c.1246G>T (p.Gly416Ter)
c.986G>T
c.1150G>T (p.Gly384Ter)
c.1023G>T
c.991G>T (p.Gly331Ter)
c.408G>T
c.829G>T
c.1125G>T
c.895G>T (p.Gly299Ter)
n.1986G>T
c.699G>T
c.593-543G>T
c.895G>T
c.1153G>T (p.Gly385Ter)
n.941G>T
c.749G>T
2g.32136567G>ACA346501834SPASTc.*910G>A (n.*910G>A)
c.1250G>A (p.Gly417Glu)
c.1247G>A (p.Gly416Glu)
c.987G>A
c.1151G>A (p.Gly384Glu)
c.1024G>A
c.992G>A (p.Gly331Glu)
c.409G>A
c.830G>A
c.1126G>A
c.896G>A (p.Gly299Glu)
n.1987G>A
c.700G>A
c.593-542G>A
c.896G>A
c.1154G>A (p.Gly385Glu)
n.942G>A
c.750G>A
 ClinVar dbSNP
2g.32136567G>CCA346501835SPASTc.*910G>C (n.*910G>C)
c.1250G>C (p.Gly417Ala)
c.1247G>C (p.Gly416Ala)
c.987G>C
c.1151G>C (p.Gly384Ala)
c.1024G>C
c.992G>C (p.Gly331Ala)
c.409G>C
c.830G>C
c.1126G>C
c.896G>C (p.Gly299Ala)
n.1987G>C
c.700G>C
c.593-542G>C
c.896G>C
c.1154G>C (p.Gly385Ala)
n.942G>C
c.750G>C
 ClinVar dbSNP COSMIC
2g.32136567G=CA1242501073SPASTc.*910G= (n.*910G=)
c.1250G= (p.Gly417=)
c.1247G= (p.Gly416=)
c.987G=
c.1151G= (p.Gly384=)
c.1024G=
c.992G= (p.Gly331=)
c.409G=
c.830G=
c.1126G=
c.896G= (p.Gly299=)
n.1987G=
c.700G=
c.593-542G=
c.896G=
c.1154G= (p.Gly385=)
n.942G=
c.750G=
2g.32136567G>TCA346501836SPASTc.*910G>T (n.*910G>T)
c.1250G>T (p.Gly417Val)
c.1247G>T (p.Gly416Val)
c.987G>T
c.1151G>T (p.Gly384Val)
c.1024G>T
c.992G>T (p.Gly331Val)
c.409G>T
c.830G>T
c.1126G>T
c.896G>T (p.Gly299Val)
n.1987G>T
c.700G>T
c.593-542G>T
c.896G>T
c.1154G>T (p.Gly385Val)
n.942G>T
c.750G>T
 ClinVar dbSNP
2g.32136567_32136570delinsGAGACA1242501080SPASTc.*910_*913delinsGAGA (n.*910_*913delinsGAGA)
c.1250_1253delinsGAGA (p.Gly417=)
c.1247_1250delinsGAGA (p.Gly416=)
c.987_990delinsGAGA
c.1151_1154delinsGAGA (p.Gly384=)
c.1024_1027delinsGAGA
c.992_995delinsGAGA (p.Gly331=)
c.409_412delinsGAGA
c.830_833delinsGAGA
c.1126_1129delinsGAGA
c.896_899delinsGAGA (p.Gly299=)
n.1987_1990delinsGAGA
c.700_703delinsGAGA
c.593-542_593-539delinsGAGA
c.896_899delinsGAGA
c.1154_1157delinsGAGA (p.Gly385=)
n.942_945delinsGAGA
c.750_753delinsGAGA
2g.32136568A=CA1242501096SPASTc.*911A= (n.*911A=)
c.1251A= (p.Gly417=)
c.1248A= (p.Gly416=)
c.988A=
c.1152A= (p.Gly384=)
c.1025A=
c.993A= (p.Gly331=)
c.410A=
c.831A=
c.1127A=
c.897A= (p.Gly299=)
n.1988A=
c.701A=
c.593-541A=
c.897A=
c.1155A= (p.Gly385=)
n.943A=
c.751A=
2g.32136568A>CCA44749603SPASTc.*911A>C (n.*911A>C)
c.1251A>C (p.Gly417=)
c.1248A>C (p.Gly416=)
c.988A>C
c.1152A>C (p.Gly384=)
c.1025A>C
c.993A>C (p.Gly331=)
c.410A>C
c.831A>C
c.1127A>C
c.897A>C (p.Gly299=)
n.1988A>C
c.701A>C
c.593-541A>C
c.897A>C
c.1155A>C (p.Gly385=)
n.943A>C
c.751A>C
 dbSNP gnomAD v2 gnomAD v4
2g.32136568A>GCA425447561SPASTc.*911A>G (n.*911A>G)
c.1251A>G (p.Gly417=)
c.1248A>G (p.Gly416=)
c.988A>G
c.1152A>G (p.Gly384=)
c.1025A>G
c.993A>G (p.Gly331=)
c.410A>G
c.831A>G
c.1127A>G
c.897A>G (p.Gly299=)
n.1988A>G
c.701A>G
c.593-541A>G
c.897A>G
c.1155A>G (p.Gly385=)
n.943A>G
c.751A>G
2g.32136568A>TCA425447558SPASTc.*911A>T (n.*911A>T)
c.1251A>T (p.Gly417=)
c.1248A>T (p.Gly416=)
c.988A>T
c.1152A>T (p.Gly384=)
c.1025A>T
c.993A>T (p.Gly331=)
c.410A>T
c.831A>T
c.1127A>T
c.897A>T (p.Gly299=)
n.1988A>T
c.701A>T
c.593-541A>T
c.897A>T
c.1155A>T (p.Gly385=)
n.943A>T
c.751A>T
2g.32136568_32136572delinsAGAAGCA1242501092SPASTc.*911_*915delinsAGAAG (n.*911_*915delinsAGAAG)
c.1251_1255delinsAGAAG (p.Gly417=)
c.1248_1252delinsAGAAG (p.Gly416=)
c.988_992delinsAGAAG
c.1152_1156delinsAGAAG (p.Gly384=)
c.1025_1029delinsAGAAG
c.993_997delinsAGAAG (p.Gly331=)
c.410_414delinsAGAAG
c.831_835delinsAGAAG
c.1127_1131delinsAGAAG
c.897_901delinsAGAAG (p.Gly299=)
n.1988_1992delinsAGAAG
c.701_705delinsAGAAG
c.593-541_593-537delinsAGAAG
c.897_901delinsAGAAG
c.1155_1159delinsAGAAG (p.Gly385=)
n.943_947delinsAGAAG
c.751_755delinsAGAAG
2g.32136570_32136572delCA913190206SPASTc.*913_*915del (n.*913_*915del)
c.1253_1255del (p.Glu418del)
c.1250_1252del (p.Glu417del)
c.990_992del
c.1154_1156del (p.Glu385del)
c.1027_1029del
c.995_997del (p.Glu332del)
c.412_414del
c.833_835del
c.1129_1131del
c.899_901del (p.Glu300del)
n.1990_1992del
c.703_705del
c.593-539_593-537del
c.899_901del
c.1157_1159del (p.Glu386del)
n.945_947del
c.753_755del
 ClinVar dbSNP
2g.32136569G>ACA346501837SPASTc.*912G>A (n.*912G>A)
c.1252G>A (p.Glu418Lys)
c.1249G>A (p.Glu417Lys)
c.989G>A
c.1153G>A (p.Glu385Lys)
c.1026G>A
c.994G>A (p.Glu332Lys)
c.411G>A
c.832G>A
c.1128G>A
c.898G>A (p.Glu300Lys)
n.1989G>A
c.702G>A
c.593-540G>A
c.898G>A
c.1156G>A (p.Glu386Lys)
n.944G>A
c.752G>A
 ClinVar dbSNP
2g.32136569G>CCA346501838SPASTc.*912G>C (n.*912G>C)
c.1252G>C (p.Glu418Gln)
c.1249G>C (p.Glu417Gln)
c.989G>C
c.1153G>C (p.Glu385Gln)
c.1026G>C
c.994G>C (p.Glu332Gln)
c.411G>C
c.832G>C
c.1128G>C
c.898G>C (p.Glu300Gln)
n.1989G>C
c.702G>C
c.593-540G>C
c.898G>C
c.1156G>C (p.Glu386Gln)
n.944G>C
c.752G>C
2g.32136569G=CA1242501103SPASTc.*912G= (n.*912G=)
c.1252G= (p.Glu418=)
c.1249G= (p.Glu417=)
c.989G=
c.1153G= (p.Glu385=)
c.1026G=
c.994G= (p.Glu332=)
c.411G=
c.832G=
c.1128G=
c.898G= (p.Glu300=)
n.1989G=
c.702G=
c.593-540G=
c.898G=
c.1156G= (p.Glu386=)
n.944G=
c.752G=
2g.32136569G>TCA346501839SPASTc.*912G>T (n.*912G>T)
c.1252G>T (p.Glu418Ter)
c.1249G>T (p.Glu417Ter)
c.989G>T
c.1153G>T (p.Glu385Ter)
c.1026G>T
c.994G>T (p.Glu332Ter)
c.411G>T
c.832G>T
c.1128G>T
c.898G>T (p.Glu300Ter)
n.1989G>T
c.702G>T
c.593-540G>T
c.898G>T
c.1156G>T (p.Glu386Ter)
n.944G>T
c.752G>T
 ClinVar dbSNP
2g.32136571_32136574delCA1242501101SPASTc.*914_*917del (n.*914_*917del)
c.1254_1257del (p.Gly419ArgfsTer4)
c.1251_1254del (p.Gly418ArgfsTer4)
c.991_994del
c.1155_1158del (p.Gly386ArgfsTer4)
c.1028_1031del
c.996_999del (p.Gly333ArgfsTer4)
c.413_416del
c.834_837del
c.1130_1133del
c.900_903del (p.Gly301ArgfsTer4)
n.1991_1994del
c.704_707del
c.593-538_593-535del
c.900_903del
c.1158_1161del (p.Gly387ArgfsTer4)
n.946_949del
c.754_757del
 dbSNP
2g.32136570A>CCA346501840SPASTc.*913A>C (n.*913A>C)
c.1253A>C (p.Glu418Ala)
c.1250A>C (p.Glu417Ala)
c.990A>C
c.1154A>C (p.Glu385Ala)
c.1027A>C
c.995A>C (p.Glu332Ala)
c.412A>C
c.833A>C
c.1129A>C
c.899A>C (p.Glu300Ala)
n.1990A>C
c.703A>C
c.593-539A>C
c.899A>C
c.1157A>C (p.Glu386Ala)
n.945A>C
c.753A>C
2g.32136570A>GCA346501842SPASTc.*913A>G (n.*913A>G)
c.1253A>G (p.Glu418Gly)
c.1250A>G (p.Glu417Gly)
c.990A>G
c.1154A>G (p.Glu385Gly)
c.1027A>G
c.995A>G (p.Glu332Gly)
c.412A>G
c.833A>G
c.1129A>G
c.899A>G (p.Glu300Gly)
n.1990A>G
c.703A>G
c.593-539A>G
c.899A>G
c.1157A>G (p.Glu386Gly)
n.945A>G
c.753A>G
 ClinVar dbSNP gnomAD v4
2g.32136570A>TCA346501843SPASTc.*913A>T (n.*913A>T)
c.1253A>T (p.Glu418Val)
c.1250A>T (p.Glu417Val)
c.990A>T
c.1154A>T (p.Glu385Val)
c.1027A>T
c.995A>T (p.Glu332Val)
c.412A>T
c.833A>T
c.1129A>T
c.899A>T (p.Glu300Val)
n.1990A>T
c.703A>T
c.593-539A>T
c.899A>T
c.1157A>T (p.Glu386Val)
n.945A>T
c.753A>T
2g.32136570_32136571dupCA2658529156SPASTc.*913_*914dup (n.*913_*914dup)
c.1253_1254dup (p.Gly419LysfsTer6)
c.1250_1251dup (p.Gly418LysfsTer6)
c.990_991dup
c.1154_1155dup (p.Gly386LysfsTer6)
c.1027_1028dup
c.995_996dup (p.Gly333LysfsTer6)
c.412_413dup
c.833_834dup
c.1129_1130dup
c.899_900dup (p.Gly301LysfsTer6)
n.1990_1991dup
c.703_704dup
c.593-539_593-538dup
c.899_900dup
c.1157_1158dup (p.Gly387LysfsTer6)
n.945_946dup
c.753_754dup
 gnomAD v4
2g.32136571A>CCA346501848SPASTc.*914A>C (n.*914A>C)
c.1254A>C (p.Glu418Asp)
c.1251A>C (p.Glu417Asp)
c.991A>C
c.1155A>C (p.Glu385Asp)
c.1028A>C
c.996A>C (p.Glu332Asp)
c.413A>C
c.834A>C
c.1130A>C
c.900A>C (p.Glu300Asp)
n.1991A>C
c.704A>C
c.593-538A>C
c.900A>C
c.1158A>C (p.Glu386Asp)
n.946A>C
c.754A>C
2g.32136571A>GCA425447594SPASTc.*914A>G (n.*914A>G)
c.1254A>G (p.Glu418=)
c.1251A>G (p.Glu417=)
c.991A>G
c.1155A>G (p.Glu385=)
c.1028A>G
c.996A>G (p.Glu332=)
c.413A>G
c.834A>G
c.1130A>G
c.900A>G (p.Glu300=)
n.1991A>G
c.704A>G
c.593-538A>G
c.900A>G
c.1158A>G (p.Glu386=)
n.946A>G
c.754A>G
2g.32136571A>TCA346501845SPASTc.*914A>T (n.*914A>T)
c.1254A>T (p.Glu418Asp)
c.1251A>T (p.Glu417Asp)
c.991A>T
c.1155A>T (p.Glu385Asp)
c.1028A>T
c.996A>T (p.Glu332Asp)
c.413A>T
c.834A>T
c.1130A>T
c.900A>T (p.Glu300Asp)
n.1991A>T
c.704A>T
c.593-538A>T
c.900A>T
c.1158A>T (p.Glu386Asp)
n.946A>T
c.754A>T
2g.32136572G>ACA346501849SPASTc.*915G>A (n.*915G>A)
c.1255G>A (p.Gly419Arg)
c.1252G>A (p.Gly418Arg)
c.992G>A
c.1156G>A (p.Gly386Arg)
c.1029G>A
c.997G>A (p.Gly333Arg)
c.414G>A
c.835G>A
c.1131G>A
c.901G>A (p.Gly301Arg)
n.1992G>A
c.705G>A
c.593-537G>A
c.901G>A
c.1159G>A (p.Gly387Arg)
n.947G>A
c.755G>A
 ClinVar gnomAD v4
2g.32136572G>CCA346501851SPASTc.*915G>C (n.*915G>C)
c.1255G>C (p.Gly419Arg)
c.1252G>C (p.Gly418Arg)
c.992G>C
c.1156G>C (p.Gly386Arg)
c.1029G>C
c.997G>C (p.Gly333Arg)
c.414G>C
c.835G>C
c.1131G>C
c.901G>C (p.Gly301Arg)
n.1992G>C
c.705G>C
c.593-537G>C
c.901G>C
c.1159G>C (p.Gly387Arg)
n.947G>C
c.755G>C
2g.32136572G>TCA346501850SPASTc.*915G>T (n.*915G>T)
c.1255G>T (p.Gly419Ter)
c.1252G>T (p.Gly418Ter)
c.992G>T
c.1156G>T (p.Gly386Ter)
c.1029G>T
c.997G>T (p.Gly333Ter)
c.414G>T
c.835G>T
c.1131G>T
c.901G>T (p.Gly301Ter)
n.1992G>T
c.705G>T
c.593-537G>T
c.901G>T
c.1159G>T (p.Gly387Ter)
n.947G>T
c.755G>T
2g.32136573G>ACA346501853SPASTc.*916G>A (n.*916G>A)
c.1256G>A (p.Gly419Glu)
c.1253G>A (p.Gly418Glu)
c.993G>A
c.1157G>A (p.Gly386Glu)
c.1030G>A
c.998G>A (p.Gly333Glu)
c.415G>A
c.836G>A
c.1132G>A
c.902G>A (p.Gly301Glu)
n.1993G>A
c.706G>A
c.593-536G>A
c.902G>A
c.1160G>A (p.Gly387Glu)
n.948G>A
c.756G>A
2g.32136573G>CCA346501854SPASTc.*916G>C (n.*916G>C)
c.1256G>C (p.Gly419Ala)
c.1253G>C (p.Gly418Ala)
c.993G>C
c.1157G>C (p.Gly386Ala)
c.1030G>C
c.998G>C (p.Gly333Ala)
c.415G>C
c.836G>C
c.1132G>C
c.902G>C (p.Gly301Ala)
n.1993G>C
c.706G>C
c.593-536G>C
c.902G>C
c.1160G>C (p.Gly387Ala)
n.948G>C
c.756G>C
2g.32136573G>TCA346501856SPASTc.*916G>T (n.*916G>T)
c.1256G>T (p.Gly419Val)
c.1253G>T (p.Gly418Val)
c.993G>T
c.1157G>T (p.Gly386Val)
c.1030G>T
c.998G>T (p.Gly333Val)
c.415G>T
c.836G>T
c.1132G>T
c.902G>T (p.Gly301Val)
n.1993G>T
c.706G>T
c.593-536G>T
c.902G>T
c.1160G>T (p.Gly387Val)
n.948G>T
c.756G>T
 ClinVar
2g.32136574A=CA1242501111SPASTc.*917A= (n.*917A=)
c.1257A= (p.Gly419=)
c.1254A= (p.Gly418=)
c.994A=
c.1158A= (p.Gly386=)
c.1031A=
c.999A= (p.Gly333=)
c.416A=
c.837A=
c.1133A=
c.903A= (p.Gly301=)
n.1994A=
c.707A=
c.593-535A=
c.903A=
c.1161A= (p.Gly387=)
n.949A=
c.757A=
2g.32136574A>CCA425447616SPASTc.*917A>C (n.*917A>C)
c.1257A>C (p.Gly419=)
c.1254A>C (p.Gly418=)
c.994A>C
c.1158A>C (p.Gly386=)
c.1031A>C
c.999A>C (p.Gly333=)
c.416A>C
c.837A>C
c.1133A>C
c.903A>C (p.Gly301=)
n.1994A>C
c.707A>C
c.593-535A>C
c.903A>C
c.1161A>C (p.Gly387=)
n.949A>C
c.757A>C
2g.32136574A>GCA425447618SPASTc.*917A>G (n.*917A>G)
c.1257A>G (p.Gly419=)
c.1254A>G (p.Gly418=)
c.994A>G
c.1158A>G (p.Gly386=)
c.1031A>G
c.999A>G (p.Gly333=)
c.416A>G
c.837A>G
c.1133A>G
c.903A>G (p.Gly301=)
n.1994A>G
c.707A>G
c.593-535A>G
c.903A>G
c.1161A>G (p.Gly387=)
n.949A>G
c.757A>G
 dbSNP
2g.32136574A>TCA425447620SPASTc.*917A>T (n.*917A>T)
c.1257A>T (p.Gly419=)
c.1254A>T (p.Gly418=)
c.994A>T
c.1158A>T (p.Gly386=)
c.1031A>T
c.999A>T (p.Gly333=)
c.416A>T
c.837A>T
c.1133A>T
c.903A>T (p.Gly301=)
n.1994A>T
c.707A>T
c.593-535A>T
c.903A>T
c.1161A>T (p.Gly387=)
n.949A>T
c.757A>T
 dbSNP
2g.32136574_32136585delCA2586964739SPASTc.*917_*928del (n.*917_*928del)
c.1257_1268del (p.Glu420_Val423del)
c.1254_1265del (p.Glu419_Val422del)
c.994_1005del
c.1158_1169del (p.Glu387_Val390del)
c.1031_1042del
c.999_1010del (p.Glu334_Val337del)
c.416_427del
c.837_848del
c.1133_1144del
c.903_914del (p.Glu302_Val305del)
n.1994_2005del
c.707_718del
c.593-535_593-524del
c.903_914del
c.1161_1172del (p.Glu388_Val391del)
n.949_960del
c.757_768del
2g.32136575G>ACA346501859SPASTc.*918G>A (n.*918G>A)
c.1258G>A (p.Glu420Lys)
c.1255G>A (p.Glu419Lys)
c.995G>A
c.1159G>A (p.Glu387Lys)
c.1032G>A
c.1000G>A (p.Glu334Lys)
c.417G>A
c.838G>A
c.1134G>A
c.904G>A (p.Glu302Lys)
n.1995G>A
c.708G>A
c.593-534G>A
c.904G>A
c.1162G>A (p.Glu388Lys)
n.950G>A
c.758G>A
2g.32136575G>CCA346501860SPASTc.*918G>C (n.*918G>C)
c.1258G>C (p.Glu420Gln)
c.1255G>C (p.Glu419Gln)
c.995G>C
c.1159G>C (p.Glu387Gln)
c.1032G>C
c.1000G>C (p.Glu334Gln)
c.417G>C
c.838G>C
c.1134G>C
c.904G>C (p.Glu302Gln)
n.1995G>C
c.708G>C
c.593-534G>C
c.904G>C
c.1162G>C (p.Glu388Gln)
n.950G>C
c.758G>C
 ClinVar dbSNP
2g.32136575G=CA1242501116SPASTc.*918G= (n.*918G=)
c.1258G= (p.Glu420=)
c.1255G= (p.Glu419=)
c.995G=
c.1159G= (p.Glu387=)
c.1032G=
c.1000G= (p.Glu334=)
c.417G=
c.838G=
c.1134G=
c.904G= (p.Glu302=)
n.1995G=
c.708G=
c.593-534G=
c.904G=
c.1162G= (p.Glu388=)
n.950G=
c.758G=
2g.32136575G>TCA346501861SPASTc.*918G>T (n.*918G>T)
c.1258G>T (p.Glu420Ter)
c.1255G>T (p.Glu419Ter)
c.995G>T
c.1159G>T (p.Glu387Ter)
c.1032G>T
c.1000G>T (p.Glu334Ter)
c.417G>T
c.838G>T
c.1134G>T
c.904G>T (p.Glu302Ter)
n.1995G>T
c.708G>T
c.593-534G>T
c.904G>T
c.1162G>T (p.Glu388Ter)
n.950G>T
c.758G>T
2g.32136576A>CCA346501863SPASTc.*919A>C (n.*919A>C)
c.1259A>C (p.Glu420Ala)
c.1256A>C (p.Glu419Ala)
c.996A>C
c.1160A>C (p.Glu387Ala)
c.1033A>C
c.1001A>C (p.Glu334Ala)
c.418A>C
c.839A>C
c.1135A>C
c.905A>C (p.Glu302Ala)
n.1996A>C
c.709A>C
c.593-533A>C
c.905A>C
c.1163A>C (p.Glu388Ala)
n.951A>C
c.759A>C
2g.32136576A>GCA346501865SPASTc.*919A>G (n.*919A>G)
c.1259A>G (p.Glu420Gly)
c.1256A>G (p.Glu419Gly)
c.996A>G
c.1160A>G (p.Glu387Gly)
c.1033A>G
c.1001A>G (p.Glu334Gly)
c.418A>G
c.839A>G
c.1135A>G
c.905A>G (p.Glu302Gly)
n.1996A>G
c.709A>G
c.593-533A>G
c.905A>G
c.1163A>G (p.Glu388Gly)
n.951A>G
c.759A>G
 ClinVar dbSNP
2g.32136576A>TCA346501867SPASTc.*919A>T (n.*919A>T)
c.1259A>T (p.Glu420Val)
c.1256A>T (p.Glu419Val)
c.996A>T
c.1160A>T (p.Glu387Val)
c.1033A>T
c.1001A>T (p.Glu334Val)
c.418A>T
c.839A>T
c.1135A>T
c.905A>T (p.Glu302Val)
n.1996A>T
c.709A>T
c.593-533A>T
c.905A>T
c.1163A>T (p.Glu388Val)
n.951A>T
c.759A>T
2g.32136577G>ACA425447633SPASTc.*920G>A (n.*920G>A)
c.1260G>A (p.Glu420=)
c.1257G>A (p.Glu419=)
c.997G>A
c.1161G>A (p.Glu387=)
c.1034G>A
c.1002G>A (p.Glu334=)
c.419G>A
c.840G>A
c.1136G>A
c.906G>A (p.Glu302=)
n.1997G>A
c.710G>A
c.593-532G>A
c.906G>A
c.1164G>A (p.Glu388=)
n.952G>A
c.760G>A
2g.32136577G>CCA346501868SPASTc.*920G>C (n.*920G>C)
c.1260G>C (p.Glu420Asp)
c.1257G>C (p.Glu419Asp)
c.997G>C
c.1161G>C (p.Glu387Asp)
c.1034G>C
c.1002G>C (p.Glu334Asp)
c.419G>C
c.840G>C
c.1136G>C
c.906G>C (p.Glu302Asp)
n.1997G>C
c.710G>C
c.593-532G>C
c.906G>C
c.1164G>C (p.Glu388Asp)
n.952G>C
c.760G>C
 dbSNP
2g.32136577G=CA1242501121SPASTc.*920G= (n.*920G=)
c.1260G= (p.Glu420=)
c.1257G= (p.Glu419=)
c.997G=
c.1161G= (p.Glu387=)
c.1034G=
c.1002G= (p.Glu334=)
c.419G=
c.840G=
c.1136G=
c.906G= (p.Glu302=)
n.1997G=
c.710G=
c.593-532G=
c.906G=
c.1164G= (p.Glu388=)
n.952G=
c.760G=
2g.32136577G>TCA346501869SPASTc.*920G>T (n.*920G>T)
c.1260G>T (p.Glu420Asp)
c.1257G>T (p.Glu419Asp)
c.997G>T
c.1161G>T (p.Glu387Asp)
c.1034G>T
c.1002G>T (p.Glu334Asp)
c.419G>T
c.840G>T
c.1136G>T
c.906G>T (p.Glu302Asp)
n.1997G>T
c.710G>T
c.593-532G>T
c.906G>T
c.1164G>T (p.Glu388Asp)
n.952G>T
c.760G>T
 ClinVar dbSNP
2g.32136577_32136579delinsGAACA1242501123SPASTc.*920_*922delinsGAA (n.*920_*922delinsGAA)
c.1260_1262delinsGAA (p.Glu420=)
c.1257_1259delinsGAA (p.Glu419=)
c.997_999delinsGAA
c.1161_1163delinsGAA (p.Glu387=)
c.1034_1036delinsGAA
c.1002_1004delinsGAA (p.Glu334=)
c.419_421delinsGAA
c.840_842delinsGAA
c.1136_1138delinsGAA
c.906_908delinsGAA (p.Glu302=)
n.1997_1999delinsGAA
c.710_712delinsGAA
c.593-532_593-530delinsGAA
c.906_908delinsGAA
c.1164_1166delinsGAA (p.Glu388=)
n.952_954delinsGAA
c.760_762delinsGAA
2g.32136578A=CA1242501134SPASTc.*921A= (n.*921A=)
c.1261A= (p.Lys421=)
c.1258A= (p.Lys420=)
c.998A=
c.1162A= (p.Lys388=)
c.1035A=
c.1003A= (p.Lys335=)
c.420A=
c.841A=
c.1137A=
c.907A= (p.Lys303=)
n.1998A=
c.711A=
c.593-531A=
c.907A=
c.1165A= (p.Lys389=)
n.953A=
c.761A=
2g.32136578A>CCA346501872SPASTc.*921A>C (n.*921A>C)
c.1261A>C (p.Lys421Gln)
c.1258A>C (p.Lys420Gln)
c.998A>C
c.1162A>C (p.Lys388Gln)
c.1035A>C
c.1003A>C (p.Lys335Gln)
c.420A>C
c.841A>C
c.1137A>C
c.907A>C (p.Lys303Gln)
n.1998A>C
c.711A>C
c.593-531A>C
c.907A>C
c.1165A>C (p.Lys389Gln)
n.953A>C
c.761A>C
2g.32136578A>GCA346501871SPASTc.*921A>G (n.*921A>G)
c.1261A>G (p.Lys421Glu)
c.1258A>G (p.Lys420Glu)
c.998A>G
c.1162A>G (p.Lys388Glu)
c.1035A>G
c.1003A>G (p.Lys335Glu)
c.420A>G
c.841A>G
c.1137A>G
c.907A>G (p.Lys303Glu)
n.1998A>G
c.711A>G
c.593-531A>G
c.907A>G
c.1165A>G (p.Lys389Glu)
n.953A>G
c.761A>G
 ClinVar dbSNP
2g.32136578A>TCA346501870SPASTc.*921A>T (n.*921A>T)
c.1261A>T (p.Lys421Ter)
c.1258A>T (p.Lys420Ter)
c.998A>T
c.1162A>T (p.Lys388Ter)
c.1035A>T
c.1003A>T (p.Lys335Ter)
c.420A>T
c.841A>T
c.1137A>T
c.907A>T (p.Lys303Ter)
n.1998A>T
c.711A>T
c.593-531A>T
c.907A>T
c.1165A>T (p.Lys389Ter)
n.953A>T
c.761A>T
2g.32136580delCA2499215906SPASTc.*923del (n.*923del)
c.1263del (p.Lys421AsnfsTer3)
c.1260del (p.Lys420AsnfsTer3)
c.1000del
c.1164del (p.Lys388AsnfsTer3)
c.1037del
c.1005del (p.Lys335AsnfsTer3)
c.422del
c.843del
c.1139del
c.909del (p.Lys303AsnfsTer3)
n.2000del
c.713del
c.593-529del
c.909del
c.1167del (p.Lys389AsnfsTer3)
n.955del
c.763del
 ClinVar dbSNP
2g.32136579_32136580delCA1139656823SPASTc.*922_*923del (n.*922_*923del)
c.1262_1263del (p.Lys421IlefsTer21)
c.1259_1260del (p.Lys420IlefsTer21)
c.999_1000del
c.1163_1164del (p.Lys388IlefsTer21)
c.1036_1037del
c.1004_1005del (p.Lys335IlefsTer21)
c.421_422del
c.842_843del
c.1138_1139del
c.908_909del (p.Lys303IlefsTer21)
n.1999_2000del
c.712_713del
c.593-530_593-529del
c.908_909del
c.1166_1167del (p.Lys389IlefsTer21)
n.954_955del
c.762_763del
 ClinVar dbSNP
2g.32136579A>CCA346502016SPASTc.*922A>C (n.*922A>C)
c.1262A>C (p.Lys421Thr)
c.1259A>C (p.Lys420Thr)
c.999A>C
c.1163A>C (p.Lys388Thr)
c.1036A>C
c.1004A>C (p.Lys335Thr)
c.421A>C
c.842A>C
c.1138A>C
c.908A>C (p.Lys303Thr)
n.1999A>C
c.712A>C
c.593-530A>C
c.908A>C
c.1166A>C (p.Lys389Thr)
n.954A>C
c.762A>C
2g.32136579A>GCA346502017SPASTc.*922A>G (n.*922A>G)
c.1262A>G (p.Lys421Arg)
c.1259A>G (p.Lys420Arg)
c.999A>G
c.1163A>G (p.Lys388Arg)
c.1036A>G
c.1004A>G (p.Lys335Arg)
c.421A>G
c.842A>G
c.1138A>G
c.908A>G (p.Lys303Arg)
n.1999A>G
c.712A>G
c.593-530A>G
c.908A>G
c.1166A>G (p.Lys389Arg)
n.954A>G
c.762A>G
2g.32136579A>TCA346502018SPASTc.*922A>T (n.*922A>T)
c.1262A>T (p.Lys421Ile)
c.1259A>T (p.Lys420Ile)
c.999A>T
c.1163A>T (p.Lys388Ile)
c.1036A>T
c.1004A>T (p.Lys335Ile)
c.421A>T
c.842A>T
c.1138A>T
c.908A>T (p.Lys303Ile)
n.1999A>T
c.712A>T
c.593-530A>T
c.908A>T
c.1166A>T (p.Lys389Ile)
n.954A>T
c.762A>T
2g.32136580A=CA1242501143SPASTc.*923A= (n.*923A=)
c.1263A= (p.Lys421=)
c.1260A= (p.Lys420=)
c.1000A=
c.1164A= (p.Lys388=)
c.1037A=
c.1005A= (p.Lys335=)
c.422A=
c.843A=
c.1139A=
c.909A= (p.Lys303=)
n.2000A=
c.713A=
c.593-529A=
c.909A=
c.1167A= (p.Lys389=)
n.955A=
c.763A=
2g.32136580A>CCA346502019SPASTc.*923A>C (n.*923A>C)
c.1263A>C (p.Lys421Asn)
c.1260A>C (p.Lys420Asn)
c.1000A>C
c.1164A>C (p.Lys388Asn)
c.1037A>C
c.1005A>C (p.Lys335Asn)
c.422A>C
c.843A>C
c.1139A>C
c.909A>C (p.Lys303Asn)
n.2000A>C
c.713A>C
c.593-529A>C
c.909A>C
c.1167A>C (p.Lys389Asn)
n.955A>C
c.763A>C
2g.32136580A>GCA425448329SPASTc.*923A>G (n.*923A>G)
c.1263A>G (p.Lys421=)
c.1260A>G (p.Lys420=)
c.1000A>G
c.1164A>G (p.Lys388=)
c.1037A>G
c.1005A>G (p.Lys335=)
c.422A>G
c.843A>G
c.1139A>G
c.909A>G (p.Lys303=)
n.2000A>G
c.713A>G
c.593-529A>G
c.909A>G
c.1167A>G (p.Lys389=)
n.955A>G
c.763A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32136580A>TCA346502020SPASTc.*923A>T (n.*923A>T)
c.1263A>T (p.Lys421Asn)
c.1260A>T (p.Lys420Asn)
c.1000A>T
c.1164A>T (p.Lys388Asn)
c.1037A>T
c.1005A>T (p.Lys335Asn)
c.422A>T
c.843A>T
c.1139A>T
c.909A>T (p.Lys303Asn)
n.2000A>T
c.713A>T
c.593-529A>T
c.909A>T
c.1167A>T (p.Lys389Asn)
n.955A>T
c.763A>T
2g.32136581T>ACA346502021SPASTc.*924T>A (n.*924T>A)
c.1264T>A (p.Leu422Met)
c.1261T>A (p.Leu421Met)
c.1001T>A
c.1165T>A (p.Leu389Met)
c.1038T>A
c.1006T>A (p.Leu336Met)
c.423T>A
c.844T>A
c.1140T>A
c.910T>A (p.Leu304Met)
n.2001T>A
c.714T>A
c.593-528T>A
c.910T>A
c.1168T>A (p.Leu390Met)
n.956T>A
c.764T>A
2g.32136581T>CCA44749609SPASTc.*924T>C (n.*924T>C)
c.1264T>C (p.Leu422=)
c.1261T>C (p.Leu421=)
c.1001T>C
c.1165T>C (p.Leu389=)
c.1038T>C
c.1006T>C (p.Leu336=)
c.423T>C
c.844T>C
c.1140T>C
c.910T>C (p.Leu304=)
n.2001T>C
c.714T>C
c.593-528T>C
c.910T>C
c.1168T>C (p.Leu390=)
n.956T>C
c.764T>C
 dbSNP gnomAD v4
2g.32136581T>GCA346502022SPASTc.*924T>G (n.*924T>G)
c.1264T>G (p.Leu422Val)
c.1261T>G (p.Leu421Val)
c.1001T>G
c.1165T>G (p.Leu389Val)
c.1038T>G
c.1006T>G (p.Leu336Val)
c.423T>G
c.844T>G
c.1140T>G
c.910T>G (p.Leu304Val)
n.2001T>G
c.714T>G
c.593-528T>G
c.910T>G
c.1168T>G (p.Leu390Val)
n.956T>G
c.764T>G
2g.32136581T=CA1242501146SPASTc.*924T= (n.*924T=)
c.1264T= (p.Leu422=)
c.1261T= (p.Leu421=)
c.1001T=
c.1165T= (p.Leu389=)
c.1038T=
c.1006T= (p.Leu336=)
c.423T=
c.844T=
c.1140T=
c.910T= (p.Leu304=)
n.2001T=
c.714T=
c.593-528T=
c.910T=
c.1168T= (p.Leu390=)
n.956T=
c.764T=
2g.32136582T>ACA346502023SPASTc.*925T>A (n.*925T>A)
c.1265T>A (p.Leu422Ter)
c.1262T>A (p.Leu421Ter)
c.1002T>A
c.1166T>A (p.Leu389Ter)
c.1039T>A
c.1007T>A (p.Leu336Ter)
c.424T>A
c.845T>A
c.1141T>A
c.911T>A (p.Leu304Ter)
n.2002T>A
c.715T>A
c.593-527T>A
c.911T>A
c.1169T>A (p.Leu390Ter)
n.957T>A
c.765T>A
2g.32136582T>CCA346502024SPASTc.*925T>C (n.*925T>C)
c.1265T>C (p.Leu422Ser)
c.1262T>C (p.Leu421Ser)
c.1002T>C
c.1166T>C (p.Leu389Ser)
c.1039T>C
c.1007T>C (p.Leu336Ser)
c.424T>C
c.845T>C
c.1141T>C
c.911T>C (p.Leu304Ser)
n.2002T>C
c.715T>C
c.593-527T>C
c.911T>C
c.1169T>C (p.Leu390Ser)
n.957T>C
c.765T>C
2g.32136582T>GCA346502025SPASTc.*925T>G (n.*925T>G)
c.1265T>G (p.Leu422Trp)
c.1262T>G (p.Leu421Trp)
c.1002T>G
c.1166T>G (p.Leu389Trp)
c.1039T>G
c.1007T>G (p.Leu336Trp)
c.424T>G
c.845T>G
c.1141T>G
c.911T>G (p.Leu304Trp)
n.2002T>G
c.715T>G
c.593-527T>G
c.911T>G
c.1169T>G (p.Leu390Trp)
n.957T>G
c.765T>G
2g.32136583G>ACA425448349SPASTc.*926G>A (n.*926G>A)
c.1266G>A (p.Leu422=)
c.1263G>A (p.Leu421=)
c.1003G>A
c.1167G>A (p.Leu389=)
c.1040G>A
c.1008G>A (p.Leu336=)
c.425G>A
c.846G>A
c.1142G>A
c.912G>A (p.Leu304=)
n.2003G>A
c.716G>A
c.593-526G>A
c.912G>A
c.1170G>A (p.Leu390=)
n.958G>A
c.766G>A
2g.32136583G>CCA346502026SPASTc.*926G>C (n.*926G>C)
c.1266G>C (p.Leu422Phe)
c.1263G>C (p.Leu421Phe)
c.1003G>C
c.1167G>C (p.Leu389Phe)
c.1040G>C
c.1008G>C (p.Leu336Phe)
c.425G>C
c.846G>C
c.1142G>C
c.912G>C (p.Leu304Phe)
n.2003G>C
c.716G>C
c.593-526G>C
c.912G>C
c.1170G>C (p.Leu390Phe)
n.958G>C
c.766G>C
 ClinVar dbSNP
2g.32136583G=CA1242501151SPASTc.*926G= (n.*926G=)
c.1266G= (p.Leu422=)
c.1263G= (p.Leu421=)
c.1003G=
c.1167G= (p.Leu389=)
c.1040G=
c.1008G= (p.Leu336=)
c.425G=
c.846G=
c.1142G=
c.912G= (p.Leu304=)
n.2003G=
c.716G=
c.593-526G=
c.912G=
c.1170G= (p.Leu390=)
n.958G=
c.766G=
2g.32136583G>TCA346502027SPASTc.*926G>T (n.*926G>T)
c.1266G>T (p.Leu422Phe)
c.1263G>T (p.Leu421Phe)
c.1003G>T
c.1167G>T (p.Leu389Phe)
c.1040G>T
c.1008G>T (p.Leu336Phe)
c.425G>T
c.846G>T
c.1142G>T
c.912G>T (p.Leu304Phe)
n.2003G>T
c.716G>T
c.593-526G>T
c.912G>T
c.1170G>T (p.Leu390Phe)
n.958G>T
c.766G>T
 ClinVar dbSNP
2g.32136584G>ACA346502028SPASTc.*927G>A (n.*927G>A)
c.1267G>A (p.Val423Met)
c.1264G>A (p.Val422Met)
c.1004G>A
c.1168G>A (p.Val390Met)
c.1041G>A
c.1009G>A (p.Val337Met)
c.426G>A
c.847G>A
c.1143G>A
c.913G>A (p.Val305Met)
n.2004G>A
c.717G>A
c.593-525G>A
c.913G>A
c.1171G>A (p.Val391Met)
n.959G>A
c.767G>A
2g.32136584G>CCA346502030SPASTc.*927G>C (n.*927G>C)
c.1267G>C (p.Val423Leu)
c.1264G>C (p.Val422Leu)
c.1004G>C
c.1168G>C (p.Val390Leu)
c.1041G>C
c.1009G>C (p.Val337Leu)
c.426G>C
c.847G>C
c.1143G>C
c.913G>C (p.Val305Leu)
n.2004G>C
c.717G>C
c.593-525G>C
c.913G>C
c.1171G>C (p.Val391Leu)
n.959G>C
c.767G>C
 ClinVar dbSNP
2g.32136584G=CA1242501154SPASTc.*927G= (n.*927G=)
c.1267G= (p.Val423=)
c.1264G= (p.Val422=)
c.1004G=
c.1168G= (p.Val390=)
c.1041G=
c.1009G= (p.Val337=)
c.426G=
c.847G=
c.1143G=
c.913G= (p.Val305=)
n.2004G=
c.717G=
c.593-525G=
c.913G=
c.1171G= (p.Val391=)
n.959G=
c.767G=
2g.32136584G>TCA346502029SPASTc.*927G>T (n.*927G>T)
c.1267G>T (p.Val423Leu)
c.1264G>T (p.Val422Leu)
c.1004G>T
c.1168G>T (p.Val390Leu)
c.1041G>T
c.1009G>T (p.Val337Leu)
c.426G>T
c.847G>T
c.1143G>T
c.913G>T (p.Val305Leu)
n.2004G>T
c.717G>T
c.593-525G>T
c.913G>T
c.1171G>T (p.Val391Leu)
n.959G>T
c.767G>T
 ClinVar dbSNP COSMIC
2g.32136585T>ACA346502031SPASTc.*928T>A (n.*928T>A)
c.1268T>A (p.Val423Glu)
c.1265T>A (p.Val422Glu)
c.1005T>A
c.1169T>A (p.Val390Glu)
c.1042T>A
c.1010T>A (p.Val337Glu)
c.427T>A
c.848T>A
c.1144T>A
c.914T>A (p.Val305Glu)
n.2005T>A
c.718T>A
c.593-524T>A
c.914T>A
c.1172T>A (p.Val391Glu)
n.960T>A
c.768T>A
2g.32136585T>CCA346502033SPASTc.*928T>C (n.*928T>C)
c.1268T>C (p.Val423Ala)
c.1265T>C (p.Val422Ala)
c.1005T>C
c.1169T>C (p.Val390Ala)
c.1042T>C
c.1010T>C (p.Val337Ala)
c.427T>C
c.848T>C
c.1144T>C
c.914T>C (p.Val305Ala)
n.2005T>C
c.718T>C
c.593-524T>C
c.914T>C
c.1172T>C (p.Val391Ala)
n.960T>C
c.768T>C
2g.32136585T>GCA346502032SPASTc.*928T>G (n.*928T>G)
c.1268T>G (p.Val423Gly)
c.1265T>G (p.Val422Gly)
c.1005T>G
c.1169T>G (p.Val390Gly)
c.1042T>G
c.1010T>G (p.Val337Gly)
c.427T>G
c.848T>G
c.1144T>G
c.914T>G (p.Val305Gly)
n.2005T>G
c.718T>G
c.593-524T>G
c.914T>G
c.1172T>G (p.Val391Gly)
n.960T>G
c.768T>G
 ClinVar dbSNP
2g.32136586G>ACA425448366SPASTc.*929G>A (n.*929G>A)
c.1269G>A (p.Val423=)
c.1266G>A (p.Val422=)
c.1006G>A
c.1170G>A (p.Val390=)
c.1043G>A
c.1011G>A (p.Val337=)
c.428G>A
c.849G>A
c.1145G>A
c.915G>A (p.Val305=)
n.2006G>A
c.719G>A
c.593-523G>A
c.915G>A
c.1173G>A (p.Val391=)
n.961G>A
c.769G>A
2g.32136586G>CCA425448367SPASTc.*929G>C (n.*929G>C)
c.1269G>C (p.Val423=)
c.1266G>C (p.Val422=)
c.1006G>C
c.1170G>C (p.Val390=)
c.1043G>C
c.1011G>C (p.Val337=)
c.428G>C
c.849G>C
c.1145G>C
c.915G>C (p.Val305=)
n.2006G>C
c.719G>C
c.593-523G>C
c.915G>C
c.1173G>C (p.Val391=)
n.961G>C
c.769G>C
2g.32136586G>TCA425448369SPASTc.*929G>T (n.*929G>T)
c.1269G>T (p.Val423=)
c.1266G>T (p.Val422=)
c.1006G>T
c.1170G>T (p.Val390=)
c.1043G>T
c.1011G>T (p.Val337=)
c.428G>T
c.849G>T
c.1145G>T
c.915G>T (p.Val305=)
n.2006G>T
c.719G>T
c.593-523G>T
c.915G>T
c.1173G>T (p.Val391=)
n.961G>T
c.769G>T
2g.32136587_32136588dupCA2586964740SPASTc.*930_*931dup (n.*930_*931dup)
c.1270_1271dup (p.Ala425GlyfsTer14)
c.1267_1268dup (p.Ala424GlyfsTer14)
c.1007_1008dup
c.1171_1172dup (p.Ala392GlyfsTer14)
c.1044_1045dup
c.1012_1013dup (p.Ala339GlyfsTer14)
c.429_430dup
c.850_851dup
c.1146_1147dup
c.916_917dup (p.Ala307GlyfsTer14)
n.2007_2008dup
c.720_721dup
c.593-522_593-521dup
c.916_917dup
c.1174_1175dup (p.Ala393GlyfsTer14)
n.962_963dup
c.770_771dup
2g.32136587A=CA1242501159SPASTc.*930A= (n.*930A=)
c.1270A= (p.Arg424=)
c.1267A= (p.Arg423=)
c.1007A=
c.1171A= (p.Arg391=)
c.1044A=
c.1012A= (p.Arg338=)
c.429A=
c.850A=
c.1146A=
c.916A= (p.Arg306=)
n.2007A=
c.720A=
c.593-522A=
c.916A=
c.1174A= (p.Arg392=)
n.962A=
c.770A=
2g.32136587A>CCA425448374SPASTc.*930A>C (n.*930A>C)
c.1270A>C (p.Arg424=)
c.1267A>C (p.Arg423=)
c.1007A>C
c.1171A>C (p.Arg391=)
c.1044A>C
c.1012A>C (p.Arg338=)
c.429A>C
c.850A>C
c.1146A>C
c.916A>C (p.Arg306=)
n.2007A>C
c.720A>C
c.593-522A>C
c.916A>C
c.1174A>C (p.Arg392=)
n.962A>C
c.770A>C
2g.32136587A>GCA346502034SPASTc.*930A>G (n.*930A>G)
c.1270A>G (p.Arg424Gly)
c.1267A>G (p.Arg423Gly)
c.1007A>G
c.1171A>G (p.Arg391Gly)
c.1044A>G
c.1012A>G (p.Arg338Gly)
c.429A>G
c.850A>G
c.1146A>G
c.916A>G (p.Arg306Gly)
n.2007A>G
c.720A>G
c.593-522A>G
c.916A>G
c.1174A>G (p.Arg392Gly)
n.962A>G
c.770A>G
 dbSNP
2g.32136587A>TCA346502035SPASTc.*930A>T (n.*930A>T)
c.1270A>T (p.Arg424Trp)
c.1267A>T (p.Arg423Trp)
c.1007A>T
c.1171A>T (p.Arg391Trp)
c.1044A>T
c.1012A>T (p.Arg338Trp)
c.429A>T
c.850A>T
c.1146A>T
c.916A>T (p.Arg306Trp)
n.2007A>T
c.720A>T
c.593-522A>T
c.916A>T
c.1174A>T (p.Arg392Trp)
n.962A>T
c.770A>T
2g.32136588G>ACA346502036SPASTc.*931G>A (n.*931G>A)
c.1271G>A (p.Arg424Lys)
c.1268G>A (p.Arg423Lys)
c.1008G>A
c.1172G>A (p.Arg391Lys)
c.1045G>A
c.1013G>A (p.Arg338Lys)
c.430G>A
c.851G>A
c.1147G>A
c.917G>A (p.Arg306Lys)
n.2008G>A
c.721G>A
c.593-521G>A
c.917G>A
c.1175G>A (p.Arg392Lys)
n.963G>A
c.771G>A
 gnomAD v4
2g.32136588G>CCA346502037SPASTc.*931G>C (n.*931G>C)
c.1271G>C (p.Arg424Thr)
c.1268G>C (p.Arg423Thr)
c.1008G>C
c.1172G>C (p.Arg391Thr)
c.1045G>C
c.1013G>C (p.Arg338Thr)
c.430G>C
c.851G>C
c.1147G>C
c.917G>C (p.Arg306Thr)
n.2008G>C
c.721G>C
c.593-521G>C
c.917G>C
c.1175G>C (p.Arg392Thr)
n.963G>C
c.771G>C
 ClinVar dbSNP
2g.32136588G>TCA346502038SPASTc.*931G>T (n.*931G>T)
c.1271G>T (p.Arg424Met)
c.1268G>T (p.Arg423Met)
c.1008G>T
c.1172G>T (p.Arg391Met)
c.1045G>T
c.1013G>T (p.Arg338Met)
c.430G>T
c.851G>T
c.1147G>T
c.917G>T (p.Arg306Met)
n.2008G>T
c.721G>T
c.593-521G>T
c.917G>T
c.1175G>T (p.Arg392Met)
n.963G>T
c.771G>T
2g.32136590delCA2586964741SPASTc.*933del (n.*933del)
c.1273del (p.Ala425LeufsTer13)
c.1270del (p.Ala424LeufsTer13)
c.1010del
c.1174del (p.Ala392LeufsTer13)
c.1047del
c.1015del (p.Ala339LeufsTer13)
c.432del
c.853del
c.1149del
c.919del (p.Ala307LeufsTer13)
n.2010del
c.723del
c.593-519del
c.919del
c.1177del (p.Ala393LeufsTer13)
n.965del
c.773del
2g.32136589G>ACA425448397SPASTc.*932G>A (n.*932G>A)
c.1272G>A (p.Arg424=)
c.1269G>A (p.Arg423=)
c.1009G>A
c.1173G>A (p.Arg391=)
c.1046G>A
c.1014G>A (p.Arg338=)
c.431G>A
c.852G>A
c.1148G>A
c.918G>A (p.Arg306=)
n.2009G>A
c.722G>A
c.593-520G>A
c.918G>A
c.1176G>A (p.Arg392=)
n.964G>A
c.772G>A
2g.32136589G>CCA346502039SPASTc.*932G>C (n.*932G>C)
c.1272G>C (p.Arg424Ser)
c.1269G>C (p.Arg423Ser)
c.1009G>C
c.1173G>C (p.Arg391Ser)
c.1046G>C
c.1014G>C (p.Arg338Ser)
c.431G>C
c.852G>C
c.1148G>C
c.918G>C (p.Arg306Ser)
n.2009G>C
c.722G>C
c.593-520G>C
c.918G>C
c.1176G>C (p.Arg392Ser)
n.964G>C
c.772G>C
 ClinVar
2g.32136589G>TCA346502040SPASTc.*932G>T (n.*932G>T)
c.1272G>T (p.Arg424Ser)
c.1269G>T (p.Arg423Ser)
c.1009G>T
c.1173G>T (p.Arg391Ser)
c.1046G>T
c.1014G>T (p.Arg338Ser)
c.431G>T
c.852G>T
c.1148G>T
c.918G>T (p.Arg306Ser)
n.2009G>T
c.722G>T
c.593-520G>T
c.918G>T
c.1176G>T (p.Arg392Ser)
n.964G>T
c.772G>T
2g.32136590G>ACA346502041SPASTc.*933G>A (n.*933G>A)
c.1273G>A (p.Ala425Thr)
c.1270G>A (p.Ala424Thr)
c.1010G>A
c.1174G>A (p.Ala392Thr)
c.1047G>A
c.1015G>A (p.Ala339Thr)
c.432G>A
c.853G>A
c.1149G>A
c.919G>A (p.Ala307Thr)
n.2010G>A
c.723G>A
c.593-519G>A
c.919G>A
c.1177G>A (p.Ala393Thr)
n.965G>A
c.773G>A
 gnomAD v4 COSMIC
2g.32136590G>CCA346502042SPASTc.*933G>C (n.*933G>C)
c.1273G>C (p.Ala425Pro)
c.1270G>C (p.Ala424Pro)
c.1010G>C
c.1174G>C (p.Ala392Pro)
c.1047G>C
c.1015G>C (p.Ala339Pro)
c.432G>C
c.853G>C
c.1149G>C
c.919G>C (p.Ala307Pro)
n.2010G>C
c.723G>C
c.593-519G>C
c.919G>C
c.1177G>C (p.Ala393Pro)
n.965G>C
c.773G>C
 ClinVar
2g.32136590G>TCA346502043SPASTc.*933G>T (n.*933G>T)
c.1273G>T (p.Ala425Ser)
c.1270G>T (p.Ala424Ser)
c.1010G>T
c.1174G>T (p.Ala392Ser)
c.1047G>T
c.1015G>T (p.Ala339Ser)
c.432G>T
c.853G>T
c.1149G>T
c.919G>T (p.Ala307Ser)
n.2010G>T
c.723G>T
c.593-519G>T
c.919G>T
c.1177G>T (p.Ala393Ser)
n.965G>T
c.773G>T
2g.32136590_32136592delinsGCTCA1242501162SPASTc.*933_*935delinsGCT (n.*933_*935delinsGCT)
c.1273_1275delinsGCT (p.Ala425=)
c.1270_1272delinsGCT (p.Ala424=)
c.1010_1012delinsGCT
c.1174_1176delinsGCT (p.Ala392=)
c.1047_1049delinsGCT
c.1015_1017delinsGCT (p.Ala339=)
c.432_434delinsGCT
c.853_855delinsGCT
c.1149_1151delinsGCT
c.919_921delinsGCT (p.Ala307=)
n.2010_2012delinsGCT
c.723_725delinsGCT
c.593-519_593-517delinsGCT
c.919_921delinsGCT
c.1177_1179delinsGCT (p.Ala393=)
n.965_967delinsGCT
c.773_775delinsGCT
2g.32136591C>ACA346502044SPASTc.*934C>A (n.*934C>A)
c.1274C>A (p.Ala425Asp)
c.1271C>A (p.Ala424Asp)
c.1011C>A
c.1175C>A (p.Ala392Asp)
c.1048C>A
c.1016C>A (p.Ala339Asp)
c.433C>A
c.854C>A
c.1150C>A
c.920C>A (p.Ala307Asp)
n.2011C>A
c.724C>A
c.593-518C>A
c.920C>A
c.1178C>A (p.Ala393Asp)
n.966C>A
c.774C>A
2g.32136591C>GCA346502045SPASTc.*934C>G (n.*934C>G)
c.1274C>G (p.Ala425Gly)
c.1271C>G (p.Ala424Gly)
c.1011C>G
c.1175C>G (p.Ala392Gly)
c.1048C>G
c.1016C>G (p.Ala339Gly)
c.433C>G
c.854C>G
c.1150C>G
c.920C>G (p.Ala307Gly)
n.2011C>G
c.724C>G
c.593-518C>G
c.920C>G
c.1178C>G (p.Ala393Gly)
n.966C>G
c.774C>G
2g.32136591C>TCA346502046SPASTc.*934C>T (n.*934C>T)
c.1274C>T (p.Ala425Val)
c.1271C>T (p.Ala424Val)
c.1011C>T
c.1175C>T (p.Ala392Val)
c.1048C>T
c.1016C>T (p.Ala339Val)
c.433C>T
c.854C>T
c.1150C>T
c.920C>T (p.Ala307Val)
n.2011C>T
c.724C>T
c.593-518C>T
c.920C>T
c.1178C>T (p.Ala393Val)
n.966C>T
c.774C>T
2g.32136593_32136594delCA1242501165SPASTc.*936_*937del (n.*936_*937del)
c.1276_1277del (p.Leu426PhefsTer16)
c.1273_1274del (p.Leu425PhefsTer16)
c.1013_1014del
c.1177_1178del (p.Leu393PhefsTer16)
c.1050_1051del
c.1018_1019del (p.Leu340PhefsTer16)
c.435_436del
c.856_857del
c.1152_1153del
c.922_923del (p.Leu308PhefsTer16)
n.2013_2014del
c.726_727del
c.593-516_593-515del
c.922_923del
c.1180_1181del (p.Leu394PhefsTer16)
n.968_969del
c.776_777del
 ClinVar dbSNP
2g.32136592T>ACA425448418SPASTc.*935T>A (n.*935T>A)
c.1275T>A (p.Ala425=)
c.1272T>A (p.Ala424=)
c.1012T>A
c.1176T>A (p.Ala392=)
c.1049T>A
c.1017T>A (p.Ala339=)
c.434T>A
c.855T>A
c.1151T>A
c.921T>A (p.Ala307=)
n.2012T>A
c.725T>A
c.593-517T>A
c.921T>A
c.1179T>A (p.Ala393=)
n.967T>A
c.775T>A
2g.32136592T>CCA425448414SPASTc.*935T>C (n.*935T>C)
c.1275T>C (p.Ala425=)
c.1272T>C (p.Ala424=)
c.1012T>C
c.1176T>C (p.Ala392=)
c.1049T>C
c.1017T>C (p.Ala339=)
c.434T>C
c.855T>C
c.1151T>C
c.921T>C (p.Ala307=)
n.2012T>C
c.725T>C
c.593-517T>C
c.921T>C
c.1179T>C (p.Ala393=)
n.967T>C
c.775T>C
2g.32136592T>GCA1600858SPASTc.*935T>G (n.*935T>G)
c.1275T>G (p.Ala425=)
c.1272T>G (p.Ala424=)
c.1012T>G
c.1176T>G (p.Ala392=)
c.1049T>G
c.1017T>G (p.Ala339=)
c.434T>G
c.855T>G
c.1151T>G
c.921T>G (p.Ala307=)
n.2012T>G
c.725T>G
c.593-517T>G
c.921T>G
c.1179T>G (p.Ala393=)
n.967T>G
c.775T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136592T=CA1242501167SPASTc.*935T= (n.*935T=)
c.1275T= (p.Ala425=)
c.1272T= (p.Ala424=)
c.1012T=
c.1176T= (p.Ala392=)
c.1049T=
c.1017T= (p.Ala339=)
c.434T=
c.855T=
c.1151T=
c.921T= (p.Ala307=)
n.2012T=
c.725T=
c.593-517T=
c.921T=
c.1179T= (p.Ala393=)
n.967T=
c.775T=
2g.32136593C>ACA346502048SPASTc.*936C>A (n.*936C>A)
c.1276C>A (p.Leu426Ile)
c.1273C>A (p.Leu425Ile)
c.1013C>A
c.1177C>A (p.Leu393Ile)
c.1050C>A
c.1018C>A (p.Leu340Ile)
c.435C>A
c.856C>A
c.1152C>A
c.922C>A (p.Leu308Ile)
n.2013C>A
c.726C>A
c.593-516C>A
c.922C>A
c.1180C>A (p.Leu394Ile)
n.968C>A
c.776C>A
2g.32136593C=CA1242501179SPASTc.*936C= (n.*936C=)
c.1276C= (p.Leu426=)
c.1273C= (p.Leu425=)
c.1013C=
c.1177C= (p.Leu393=)
c.1050C=
c.1018C= (p.Leu340=)
c.435C=
c.856C=
c.1152C=
c.922C= (p.Leu308=)
n.2013C=
c.726C=
c.593-516C=
c.922C=
c.1180C= (p.Leu394=)
n.968C=
c.776C=
2g.32136593C>GCA16610830SPASTc.*936C>G (n.*936C>G)
c.1276C>G (p.Leu426Val)
c.1273C>G (p.Leu425Val)
c.1013C>G
c.1177C>G (p.Leu393Val)
c.1050C>G
c.1018C>G (p.Leu340Val)
c.435C>G
c.856C>G
c.1152C>G
c.922C>G (p.Leu308Val)
n.2013C>G
c.726C>G
c.593-516C>G
c.922C>G
c.1180C>G (p.Leu394Val)
n.968C>G
c.776C>G
 ClinVar dbSNP COSMIC
2g.32136593C>TCA346502047SPASTc.*936C>T (n.*936C>T)
c.1276C>T (p.Leu426Phe)
c.1273C>T (p.Leu425Phe)
c.1013C>T
c.1177C>T (p.Leu393Phe)
c.1050C>T
c.1018C>T (p.Leu340Phe)
c.435C>T
c.856C>T
c.1152C>T
c.922C>T (p.Leu308Phe)
n.2013C>T
c.726C>T
c.593-516C>T
c.922C>T
c.1180C>T (p.Leu394Phe)
n.968C>T
c.776C>T
 ClinVar dbSNP
2g.32136594T>ACA346502049SPASTc.*937T>A (n.*937T>A)
c.1277T>A (p.Leu426His)
c.1274T>A (p.Leu425His)
c.1014T>A
c.1178T>A (p.Leu393His)
c.1051T>A
c.1019T>A (p.Leu340His)
c.436T>A
c.857T>A
c.1153T>A
c.923T>A (p.Leu308His)
n.2014T>A
c.727T>A
c.593-515T>A
c.923T>A
c.1181T>A (p.Leu394His)
n.969T>A
c.777T>A
2g.32136594T>CCA346502050SPASTc.*937T>C (n.*937T>C)
c.1277T>C (p.Leu426Pro)
c.1274T>C (p.Leu425Pro)
c.1014T>C
c.1178T>C (p.Leu393Pro)
c.1051T>C
c.1019T>C (p.Leu340Pro)
c.436T>C
c.857T>C
c.1153T>C
c.923T>C (p.Leu308Pro)
n.2014T>C
c.727T>C
c.593-515T>C
c.923T>C
c.1181T>C (p.Leu394Pro)
n.969T>C
c.777T>C
2g.32136594T>GCA346502051SPASTc.*937T>G (n.*937T>G)
c.1277T>G (p.Leu426Arg)
c.1274T>G (p.Leu425Arg)
c.1014T>G
c.1178T>G (p.Leu393Arg)
c.1051T>G
c.1019T>G (p.Leu340Arg)
c.436T>G
c.857T>G
c.1153T>G
c.923T>G (p.Leu308Arg)
n.2014T>G
c.727T>G
c.593-515T>G
c.923T>G
c.1181T>G (p.Leu394Arg)
n.969T>G
c.777T>G
2g.32136598dupCA2586964742SPASTc.*941dup (n.*941dup)
c.1281dup (p.Ala428CysfsTer15)
c.1278dup (p.Ala427CysfsTer15)
c.1018dup
c.1182dup (p.Ala395CysfsTer15)
c.1055dup
c.1023dup (p.Ala342CysfsTer15)
c.440dup
c.861dup
c.1157dup
c.927dup (p.Ala310CysfsTer15)
n.2018dup
c.731dup
c.593-511dup
c.927dup
c.1185dup (p.Ala396CysfsTer15)
n.973dup
c.781dup
2g.32136598delCA658653590SPASTc.*941del (n.*941del)
c.1281del (p.Phe427LeufsTer11)
c.1278del (p.Phe426LeufsTer11)
c.1018del
c.1182del (p.Phe394LeufsTer11)
c.1055del
c.1023del (p.Phe341LeufsTer11)
c.440del
c.861del
c.1157del
c.927del (p.Phe309LeufsTer11)
n.2018del
c.731del
c.593-511del
c.927del
c.1185del (p.Phe395LeufsTer11)
n.973del
c.781del
2g.32136595T>ACA425448429SPASTc.*938T>A (n.*938T>A)
c.1278T>A (p.Leu426=)
c.1275T>A (p.Leu425=)
c.1015T>A
c.1179T>A (p.Leu393=)
c.1052T>A
c.1020T>A (p.Leu340=)
c.437T>A
c.858T>A
c.1154T>A
c.924T>A (p.Leu308=)
n.2015T>A
c.728T>A
c.593-514T>A
c.924T>A
c.1182T>A (p.Leu394=)
n.970T>A
c.778T>A
2g.32136595T>CCA425448434SPASTc.*938T>C (n.*938T>C)
c.1278T>C (p.Leu426=)
c.1275T>C (p.Leu425=)
c.1015T>C
c.1179T>C (p.Leu393=)
c.1052T>C
c.1020T>C (p.Leu340=)
c.437T>C
c.858T>C
c.1154T>C
c.924T>C (p.Leu308=)
n.2015T>C
c.728T>C
c.593-514T>C
c.924T>C
c.1182T>C (p.Leu394=)
n.970T>C
c.778T>C
2g.32136595T>GCA425448432SPASTc.*938T>G (n.*938T>G)
c.1278T>G (p.Leu426=)
c.1275T>G (p.Leu425=)
c.1015T>G
c.1179T>G (p.Leu393=)
c.1052T>G
c.1020T>G (p.Leu340=)
c.437T>G
c.858T>G
c.1154T>G
c.924T>G (p.Leu308=)
n.2015T>G
c.728T>G
c.593-514T>G
c.924T>G
c.1182T>G (p.Leu394=)
n.970T>G
c.778T>G
2g.32136596T>ACA346502052SPASTc.*939T>A (n.*939T>A)
c.1279T>A (p.Phe427Ile)
c.1276T>A (p.Phe426Ile)
c.1016T>A
c.1180T>A (p.Phe394Ile)
c.1053T>A
c.1021T>A (p.Phe341Ile)
c.438T>A
c.859T>A
c.1155T>A
c.925T>A (p.Phe309Ile)
n.2016T>A
c.729T>A
c.593-513T>A
c.925T>A
c.1183T>A (p.Phe395Ile)
n.971T>A
c.779T>A
2g.32136596T>CCA346502053SPASTc.*939T>C (n.*939T>C)
c.1279T>C (p.Phe427Leu)
c.1276T>C (p.Phe426Leu)
c.1016T>C
c.1180T>C (p.Phe394Leu)
c.1053T>C
c.1021T>C (p.Phe341Leu)
c.438T>C
c.859T>C
c.1155T>C
c.925T>C (p.Phe309Leu)
n.2016T>C
c.729T>C
c.593-513T>C
c.925T>C
c.1183T>C (p.Phe395Leu)
n.971T>C
c.779T>C
2g.32136596T>GCA346502054SPASTc.*939T>G (n.*939T>G)
c.1279T>G (p.Phe427Val)
c.1276T>G (p.Phe426Val)
c.1016T>G
c.1180T>G (p.Phe394Val)
c.1053T>G
c.1021T>G (p.Phe341Val)
c.438T>G
c.859T>G
c.1155T>G
c.925T>G (p.Phe309Val)
n.2016T>G
c.729T>G
c.593-513T>G
c.925T>G
c.1183T>G (p.Phe395Val)
n.971T>G
c.779T>G
2g.32136597T>ACA346502055SPASTc.*940T>A (n.*940T>A)
c.1280T>A (p.Phe427Tyr)
c.1277T>A (p.Phe426Tyr)
c.1017T>A
c.1181T>A (p.Phe394Tyr)
c.1054T>A
c.1022T>A (p.Phe341Tyr)
c.439T>A
c.860T>A
c.1156T>A
c.926T>A (p.Phe309Tyr)
n.2017T>A
c.730T>A
c.593-512T>A
c.926T>A
c.1184T>A (p.Phe395Tyr)
n.972T>A
c.780T>A
2g.32136597T>CCA346502056SPASTc.*940T>C (n.*940T>C)
c.1280T>C (p.Phe427Ser)
c.1277T>C (p.Phe426Ser)
c.1017T>C
c.1181T>C (p.Phe394Ser)
c.1054T>C
c.1022T>C (p.Phe341Ser)
c.439T>C
c.860T>C
c.1156T>C
c.926T>C (p.Phe309Ser)
n.2017T>C
c.730T>C
c.593-512T>C
c.926T>C
c.1184T>C (p.Phe395Ser)
n.972T>C
c.780T>C
2g.32136597T>GCA346502057SPASTc.*940T>G (n.*940T>G)
c.1280T>G (p.Phe427Cys)
c.1277T>G (p.Phe426Cys)
c.1017T>G
c.1181T>G (p.Phe394Cys)
c.1054T>G
c.1022T>G (p.Phe341Cys)
c.439T>G
c.860T>G
c.1156T>G
c.926T>G (p.Phe309Cys)
n.2017T>G
c.730T>G
c.593-512T>G
c.926T>G
c.1184T>G (p.Phe395Cys)
n.972T>G
c.780T>G
 dbSNP
2g.32136597T=CA1242501187SPASTc.*940T= (n.*940T=)
c.1280T= (p.Phe427=)
c.1277T= (p.Phe426=)
c.1017T=
c.1181T= (p.Phe394=)
c.1054T=
c.1022T= (p.Phe341=)
c.439T=
c.860T=
c.1156T=
c.926T= (p.Phe309=)
n.2017T=
c.730T=
c.593-512T=
c.926T=
c.1184T= (p.Phe395=)
n.972T=
c.780T=
2g.32136598T>ACA346502058SPASTc.*941T>A (n.*941T>A)
c.1281T>A (p.Phe427Leu)
c.1278T>A (p.Phe426Leu)
c.1018T>A
c.1182T>A (p.Phe394Leu)
c.1055T>A
c.1023T>A (p.Phe341Leu)
c.440T>A
c.861T>A
c.1157T>A
c.927T>A (p.Phe309Leu)
n.2018T>A
c.731T>A
c.593-511T>A
c.927T>A
c.1185T>A (p.Phe395Leu)
n.973T>A
c.781T>A
2g.32136598T>CCA425448447SPASTc.*941T>C (n.*941T>C)
c.1281T>C (p.Phe427=)
c.1278T>C (p.Phe426=)
c.1018T>C
c.1182T>C (p.Phe394=)
c.1055T>C
c.1023T>C (p.Phe341=)
c.440T>C
c.861T>C
c.1157T>C
c.927T>C (p.Phe309=)
n.2018T>C
c.731T>C
c.593-511T>C
c.927T>C
c.1185T>C (p.Phe395=)
n.973T>C
c.781T>C
2g.32136598T>GCA346502059SPASTc.*941T>G (n.*941T>G)
c.1281T>G (p.Phe427Leu)
c.1278T>G (p.Phe426Leu)
c.1018T>G
c.1182T>G (p.Phe394Leu)
c.1055T>G
c.1023T>G (p.Phe341Leu)
c.440T>G
c.861T>G
c.1157T>G
c.927T>G (p.Phe309Leu)
n.2018T>G
c.731T>G
c.593-511T>G
c.927T>G
c.1185T>G (p.Phe395Leu)
n.973T>G
c.781T>G
 ClinVar
2g.32136599delCA2586964744SPASTc.*942del (n.*942del)
c.1282del (p.Ala428LeufsTer10)
c.1279del (p.Ala427LeufsTer10)
c.1019del
c.1183del (p.Ala395LeufsTer10)
c.1056del
c.1024del (p.Ala342LeufsTer10)
c.441del
c.862del
c.1158del
c.928del (p.Ala310LeufsTer10)
n.2019del
c.732del
c.593-510del
c.928del
c.1186del (p.Ala396LeufsTer10)
n.974del
c.782del
2g.32136599G>ACA346502062SPASTc.*942G>A (n.*942G>A)
c.1282G>A (p.Ala428Thr)
c.1279G>A (p.Ala427Thr)
c.1019G>A
c.1183G>A (p.Ala395Thr)
c.1056G>A
c.1024G>A (p.Ala342Thr)
c.441G>A
c.862G>A
c.1158G>A
c.928G>A (p.Ala310Thr)
n.2019G>A
c.732G>A
c.593-510G>A
c.928G>A
c.1186G>A (p.Ala396Thr)
n.974G>A
c.782G>A
2g.32136599G>CCA346502061SPASTc.*942G>C (n.*942G>C)
c.1282G>C (p.Ala428Pro)
c.1279G>C (p.Ala427Pro)
c.1019G>C
c.1183G>C (p.Ala395Pro)
c.1056G>C
c.1024G>C (p.Ala342Pro)
c.441G>C
c.862G>C
c.1158G>C
c.928G>C (p.Ala310Pro)
n.2019G>C
c.732G>C
c.593-510G>C
c.928G>C
c.1186G>C (p.Ala396Pro)
n.974G>C
c.782G>C
2g.32136599G>TCA346502060SPASTc.*942G>T (n.*942G>T)
c.1282G>T (p.Ala428Ser)
c.1279G>T (p.Ala427Ser)
c.1019G>T
c.1183G>T (p.Ala395Ser)
c.1056G>T
c.1024G>T (p.Ala342Ser)
c.441G>T
c.862G>T
c.1158G>T
c.928G>T (p.Ala310Ser)
n.2019G>T
c.732G>T
c.593-510G>T
c.928G>T
c.1186G>T (p.Ala396Ser)
n.974G>T
c.782G>T
2g.32136600C>ACA346502065SPASTc.*943C>A (n.*943C>A)
c.1283C>A (p.Ala428Asp)
c.1280C>A (p.Ala427Asp)
c.1020C>A
c.1184C>A (p.Ala395Asp)
c.1057C>A
c.1025C>A (p.Ala342Asp)
c.442C>A
c.863C>A
c.1159C>A
c.929C>A (p.Ala310Asp)
n.2020C>A
c.733C>A
c.593-509C>A
c.929C>A
c.1187C>A (p.Ala396Asp)
n.975C>A
c.783C>A
 COSMIC
2g.32136600C=CA1242501194SPASTc.*943C= (n.*943C=)
c.1283C= (p.Ala428=)
c.1280C= (p.Ala427=)
c.1020C=
c.1184C= (p.Ala395=)
c.1057C=
c.1025C= (p.Ala342=)
c.442C=
c.863C=
c.1159C=
c.929C= (p.Ala310=)
n.2020C=
c.733C=
c.593-509C=
c.929C=
c.1187C= (p.Ala396=)
n.975C=
c.783C=
2g.32136600C>GCA346502063SPASTc.*943C>G (n.*943C>G)
c.1283C>G (p.Ala428Gly)
c.1280C>G (p.Ala427Gly)
c.1020C>G
c.1184C>G (p.Ala395Gly)
c.1057C>G
c.1025C>G (p.Ala342Gly)
c.442C>G
c.863C>G
c.1159C>G
c.929C>G (p.Ala310Gly)
n.2020C>G
c.733C>G
c.593-509C>G
c.929C>G
c.1187C>G (p.Ala396Gly)
n.975C>G
c.783C>G
2g.32136600C>TCA346502064SPASTc.*943C>T (n.*943C>T)
c.1283C>T (p.Ala428Val)
c.1280C>T (p.Ala427Val)
c.1020C>T
c.1184C>T (p.Ala395Val)
c.1057C>T
c.1025C>T (p.Ala342Val)
c.442C>T
c.863C>T
c.1159C>T
c.929C>T (p.Ala310Val)
n.2020C>T
c.733C>T
c.593-509C>T
c.929C>T
c.1187C>T (p.Ala396Val)
n.975C>T
c.783C>T
 COSMIC
2g.32136601T>ACA425448466SPASTc.*944T>A (n.*944T>A)
c.1284T>A (p.Ala428=)
c.1281T>A (p.Ala427=)
c.1021T>A
c.1185T>A (p.Ala395=)
c.1058T>A
c.1026T>A (p.Ala342=)
c.443T>A
c.864T>A
c.1160T>A
c.930T>A (p.Ala310=)
n.2021T>A
c.734T>A
c.593-508T>A
c.930T>A
c.1188T>A (p.Ala396=)
n.976T>A
c.784T>A
2g.32136601T>CCA425448468SPASTc.*944T>C (n.*944T>C)
c.1284T>C (p.Ala428=)
c.1281T>C (p.Ala427=)
c.1021T>C
c.1185T>C (p.Ala395=)
c.1058T>C
c.1026T>C (p.Ala342=)
c.443T>C
c.864T>C
c.1160T>C
c.930T>C (p.Ala310=)
n.2021T>C
c.734T>C
c.593-508T>C
c.930T>C
c.1188T>C (p.Ala396=)
n.976T>C
c.784T>C
2g.32136601T>GCA425448470SPASTc.*944T>G (n.*944T>G)
c.1284T>G (p.Ala428=)
c.1281T>G (p.Ala427=)
c.1021T>G
c.1185T>G (p.Ala395=)
c.1058T>G
c.1026T>G (p.Ala342=)
c.443T>G
c.864T>G
c.1160T>G
c.930T>G (p.Ala310=)
n.2021T>G
c.734T>G
c.593-508T>G
c.930T>G
c.1188T>G (p.Ala396=)
n.976T>G
c.784T>G
2g.32136603_32136604dupCA658657024SPASTc.*946_*947dup (n.*946_*947dup)
c.1286_1287dup (p.Ala430TrpfsTer9)
c.1283_1284dup (p.Ala429TrpfsTer9)
c.1023_1024dup
c.1187_1188dup (p.Ala397TrpfsTer9)
c.1060_1061dup
c.1028_1029dup (p.Ala344TrpfsTer9)
c.445_446dup
c.866_867dup
c.1162_1163dup
c.932_933dup (p.Ala312TrpfsTer9)
n.2023_2024dup
c.736_737dup
c.593-506_593-505dup
c.932_933dup
c.1190_1191dup (p.Ala398TrpfsTer9)
n.978_979dup
c.786_787dup
 ClinVar dbSNP
2g.32136602delCA2586964745SPASTc.*945del (n.*945del)
c.1285del (p.Val429TrpfsTer9)
c.1282del (p.Val428TrpfsTer9)
c.1022del
c.1186del (p.Val396TrpfsTer9)
c.1059del
c.1027del (p.Val343TrpfsTer9)
c.444del
c.865del
c.1161del
c.931del (p.Val311TrpfsTer9)
n.2022del
c.735del
c.593-507del
c.931del
c.1189del (p.Val397TrpfsTer9)
n.977del
c.785del
2g.32136602G>ACA346502066SPASTc.*945G>A (n.*945G>A)
c.1285G>A (p.Val429Met)
c.1282G>A (p.Val428Met)
c.1022G>A
c.1186G>A (p.Val396Met)
c.1059G>A
c.1027G>A (p.Val343Met)
c.444G>A
c.865G>A
c.1161G>A
c.931G>A (p.Val311Met)
n.2022G>A
c.735G>A
c.593-507G>A
c.931G>A
c.1189G>A (p.Val397Met)
n.977G>A
c.785G>A
 gnomAD v4
2g.32136602G>CCA346502067SPASTc.*945G>C (n.*945G>C)
c.1285G>C (p.Val429Leu)
c.1282G>C (p.Val428Leu)
c.1022G>C
c.1186G>C (p.Val396Leu)
c.1059G>C
c.1027G>C (p.Val343Leu)
c.444G>C
c.865G>C
c.1161G>C
c.931G>C (p.Val311Leu)
n.2022G>C
c.735G>C
c.593-507G>C
c.931G>C
c.1189G>C (p.Val397Leu)
n.977G>C
c.785G>C
2g.32136602G>TCA346502068SPASTc.*945G>T (n.*945G>T)
c.1285G>T (p.Val429Leu)
c.1282G>T (p.Val428Leu)
c.1022G>T
c.1186G>T (p.Val396Leu)
c.1059G>T
c.1027G>T (p.Val343Leu)
c.444G>T
c.865G>T
c.1161G>T
c.931G>T (p.Val311Leu)
n.2022G>T
c.735G>T
c.593-507G>T
c.931G>T
c.1189G>T (p.Val397Leu)
n.977G>T
c.785G>T
 gnomAD v4
2g.32136603T>ACA346502069SPASTc.*946T>A (n.*946T>A)
c.1286T>A (p.Val429Glu)
c.1283T>A (p.Val428Glu)
c.1023T>A
c.1187T>A (p.Val396Glu)
c.1060T>A
c.1028T>A (p.Val343Glu)
c.445T>A
c.866T>A
c.1162T>A
c.932T>A (p.Val311Glu)
n.2023T>A
c.736T>A
c.593-506T>A
c.932T>A
c.1190T>A (p.Val397Glu)
n.978T>A
c.786T>A
2g.32136603T>CCA346502070SPASTc.*946T>C (n.*946T>C)
c.1286T>C (p.Val429Ala)
c.1283T>C (p.Val428Ala)
c.1023T>C
c.1187T>C (p.Val396Ala)
c.1060T>C
c.1028T>C (p.Val343Ala)
c.445T>C
c.866T>C
c.1162T>C
c.932T>C (p.Val311Ala)
n.2023T>C
c.736T>C
c.593-506T>C
c.932T>C
c.1190T>C (p.Val397Ala)
n.978T>C
c.786T>C
2g.32136603T>GCA346502071SPASTc.*946T>G (n.*946T>G)
c.1286T>G (p.Val429Gly)
c.1283T>G (p.Val428Gly)
c.1023T>G
c.1187T>G (p.Val396Gly)
c.1060T>G
c.1028T>G (p.Val343Gly)
c.445T>G
c.866T>G
c.1162T>G
c.932T>G (p.Val311Gly)
n.2023T>G
c.736T>G
c.593-506T>G
c.932T>G
c.1190T>G (p.Val397Gly)
n.978T>G
c.786T>G
2g.32136604G>ACA425448485SPASTc.*947G>A (n.*947G>A)
c.1287G>A (p.Val429=)
c.1284G>A (p.Val428=)
c.1024G>A
c.1188G>A (p.Val396=)
c.1061G>A
c.1029G>A (p.Val343=)
c.446G>A
c.867G>A
c.1163G>A
c.933G>A (p.Val311=)
n.2024G>A
c.737G>A
c.593-505G>A
c.933G>A
c.1191G>A (p.Val397=)
n.979G>A
c.787G>A
2g.32136604G>CCA425448487SPASTc.*947G>C (n.*947G>C)
c.1287G>C (p.Val429=)
c.1284G>C (p.Val428=)
c.1024G>C
c.1188G>C (p.Val396=)
c.1061G>C
c.1029G>C (p.Val343=)
c.446G>C
c.867G>C
c.1163G>C
c.933G>C (p.Val311=)
n.2024G>C
c.737G>C
c.593-505G>C
c.933G>C
c.1191G>C (p.Val397=)
n.979G>C
c.787G>C
2g.32136604G>TCA425448489SPASTc.*947G>T (n.*947G>T)
c.1287G>T (p.Val429=)
c.1284G>T (p.Val428=)
c.1024G>T
c.1188G>T (p.Val396=)
c.1061G>T
c.1029G>T (p.Val343=)
c.446G>T
c.867G>T
c.1163G>T
c.933G>T (p.Val311=)
n.2024G>T
c.737G>T
c.593-505G>T
c.933G>T
c.1191G>T (p.Val397=)
n.979G>T
c.787G>T
2g.32136605dupCA2586964746SPASTc.*948dup (n.*948dup)
c.1288dup (p.Ala430GlyfsTer13)
c.1285dup (p.Ala429GlyfsTer13)
c.1025dup
c.1189dup (p.Ala397GlyfsTer13)
c.1062dup
c.1030dup (p.Ala344GlyfsTer13)
c.447dup
c.868dup
c.1164dup
c.934dup (p.Ala312GlyfsTer13)
n.2025dup
c.738dup
c.593-504dup
c.934dup
c.1192dup (p.Ala398GlyfsTer13)
n.980dup
c.788dup
2g.32136605G>ACA346502072SPASTc.*948G>A (n.*948G>A)
c.1288G>A (p.Ala430Thr)
c.1285G>A (p.Ala429Thr)
c.1025G>A
c.1189G>A (p.Ala397Thr)
c.1062G>A
c.1030G>A (p.Ala344Thr)
c.447G>A
c.868G>A
c.1164G>A
c.934G>A (p.Ala312Thr)
n.2025G>A
c.738G>A
c.593-504G>A
c.934G>A
c.1192G>A (p.Ala398Thr)
n.980G>A
c.788G>A
 gnomAD v4
2g.32136605G>CCA346502073SPASTc.*948G>C (n.*948G>C)
c.1288G>C (p.Ala430Pro)
c.1285G>C (p.Ala429Pro)
c.1025G>C
c.1189G>C (p.Ala397Pro)
c.1062G>C
c.1030G>C (p.Ala344Pro)
c.447G>C
c.868G>C
c.1164G>C
c.934G>C (p.Ala312Pro)
n.2025G>C
c.738G>C
c.593-504G>C
c.934G>C
c.1192G>C (p.Ala398Pro)
n.980G>C
c.788G>C
2g.32136605G>TCA346502074SPASTc.*948G>T (n.*948G>T)
c.1288G>T (p.Ala430Ser)
c.1285G>T (p.Ala429Ser)
c.1025G>T
c.1189G>T (p.Ala397Ser)
c.1062G>T
c.1030G>T (p.Ala344Ser)
c.447G>T
c.868G>T
c.1164G>T
c.934G>T (p.Ala312Ser)
n.2025G>T
c.738G>T
c.593-504G>T
c.934G>T
c.1192G>T (p.Ala398Ser)
n.980G>T
c.788G>T
 gnomAD v4
2g.32136606C>ACA346502075SPASTc.*949C>A (n.*949C>A)
c.1289C>A (p.Ala430Asp)
c.1286C>A (p.Ala429Asp)
c.1026C>A
c.1190C>A (p.Ala397Asp)
c.1063C>A
c.1031C>A (p.Ala344Asp)
c.448C>A
c.869C>A
c.1165C>A
c.935C>A (p.Ala312Asp)
n.2026C>A
c.739C>A
c.593-503C>A
c.935C>A
c.1193C>A (p.Ala398Asp)
n.981C>A
c.789C>A
2g.32136606C>GCA346502076SPASTc.*949C>G (n.*949C>G)
c.1289C>G (p.Ala430Gly)
c.1286C>G (p.Ala429Gly)
c.1026C>G
c.1190C>G (p.Ala397Gly)
c.1063C>G
c.1031C>G (p.Ala344Gly)
c.448C>G
c.869C>G
c.1165C>G
c.935C>G (p.Ala312Gly)
n.2026C>G
c.739C>G
c.593-503C>G
c.935C>G
c.1193C>G (p.Ala398Gly)
n.981C>G
c.789C>G
2g.32136606C>TCA346502077SPASTc.*949C>T (n.*949C>T)
c.1289C>T (p.Ala430Val)
c.1286C>T (p.Ala429Val)
c.1026C>T
c.1190C>T (p.Ala397Val)
c.1063C>T
c.1031C>T (p.Ala344Val)
c.448C>T
c.869C>T
c.1165C>T
c.935C>T (p.Ala312Val)
n.2026C>T
c.739C>T
c.593-503C>T
c.935C>T
c.1193C>T (p.Ala398Val)
n.981C>T
c.789C>T
2g.32136607T>ACA425448516SPASTc.*950T>A (n.*950T>A)
c.1290T>A (p.Ala430=)
c.1287T>A (p.Ala429=)
c.1027T>A
c.1191T>A (p.Ala397=)
c.1064T>A
c.1032T>A (p.Ala344=)
c.449T>A
c.870T>A
c.1166T>A
c.936T>A (p.Ala312=)
n.2027T>A
c.740T>A
c.593-502T>A
c.936T>A
c.1194T>A (p.Ala398=)
n.982T>A
c.790T>A
2g.32136607T>CCA425448517SPASTc.*950T>C (n.*950T>C)
c.1290T>C (p.Ala430=)
c.1287T>C (p.Ala429=)
c.1027T>C
c.1191T>C (p.Ala397=)
c.1064T>C
c.1032T>C (p.Ala344=)
c.449T>C
c.870T>C
c.1166T>C
c.936T>C (p.Ala312=)
n.2027T>C
c.740T>C
c.593-502T>C
c.936T>C
c.1194T>C (p.Ala398=)
n.982T>C
c.790T>C
2g.32136607T>GCA425448522SPASTc.*950T>G (n.*950T>G)
c.1290T>G (p.Ala430=)
c.1287T>G (p.Ala429=)
c.1027T>G
c.1191T>G (p.Ala397=)
c.1064T>G
c.1032T>G (p.Ala344=)
c.449T>G
c.870T>G
c.1166T>G
c.936T>G (p.Ala312=)
n.2027T>G
c.740T>G
c.593-502T>G
c.936T>G
c.1194T>G (p.Ala398=)
n.982T>G
c.790T>G
2g.32136607T=CA1242501203SPASTc.*950T= (n.*950T=)
c.1290T= (p.Ala430=)
c.1287T= (p.Ala429=)
c.1027T=
c.1191T= (p.Ala397=)
c.1064T=
c.1032T= (p.Ala344=)
c.449T=
c.870T=
c.1166T=
c.936T= (p.Ala312=)
n.2027T=
c.740T=
c.593-502T=
c.936T=
c.1194T= (p.Ala398=)
n.982T=
c.790T=
2g.32136608delCA2580066405SPASTc.*951del (n.*951del)
c.1291del (p.Arg431GlufsTer7)
c.1288del (p.Arg430GlufsTer7)
c.1028del
c.1192del (p.Arg398GlufsTer7)
c.1065del
c.1033del (p.Arg345GlufsTer7)
c.450del
c.871del
c.1167del
c.937del (p.Arg313GlufsTer7)
n.2028del
c.741del
c.593-501del
c.937del
c.1195del (p.Arg399GlufsTer7)
n.983del
c.791del
 ClinVar
2g.32136608C>ACA425448524SPASTc.*951C>A (n.*951C>A)
c.1291C>A (p.Arg431=)
c.1288C>A (p.Arg430=)
c.1028C>A
c.1192C>A (p.Arg398=)
c.1065C>A
c.1033C>A (p.Arg345=)
c.450C>A
c.871C>A
c.1167C>A
c.937C>A (p.Arg313=)
n.2028C>A
c.741C>A
c.593-501C>A
c.937C>A
c.1195C>A (p.Arg399=)
n.983C>A
c.791C>A
2g.32136608C=CA1242501213SPASTc.*951C= (n.*951C=)
c.1291C= (p.Arg431=)
c.1288C= (p.Arg430=)
c.1028C=
c.1192C= (p.Arg398=)
c.1065C=
c.1033C= (p.Arg345=)
c.450C=
c.871C=
c.1167C=
c.937C= (p.Arg313=)
n.2028C=
c.741C=
c.593-501C=
c.937C=
c.1195C= (p.Arg399=)
n.983C=
c.791C=
2g.32136608C>GCA346502078SPASTc.*951C>G (n.*951C>G)
c.1291C>G (p.Arg431Gly)
c.1288C>G (p.Arg430Gly)
c.1028C>G
c.1192C>G (p.Arg398Gly)
c.1065C>G
c.1033C>G (p.Arg345Gly)
c.450C>G
c.871C>G
c.1167C>G
c.937C>G (p.Arg313Gly)
n.2028C>G
c.741C>G
c.593-501C>G
c.937C>G
c.1195C>G (p.Arg399Gly)
n.983C>G
c.791C>G
2g.32136608C>TCA334245SPASTc.*951C>T (n.*951C>T)
c.1291C>T (p.Arg431Ter)
c.1288C>T (p.Arg430Ter)
c.1028C>T
c.1192C>T (p.Arg398Ter)
c.1065C>T
c.1033C>T (p.Arg345Ter)
c.450C>T
c.871C>T
c.1167C>T
c.937C>T (p.Arg313Ter)
n.2028C>T
c.741C>T
c.593-501C>T
c.937C>T
c.1195C>T (p.Arg399Ter)
n.983C>T
c.791C>T
 ClinVar dbSNP gnomAD v4
2g.32136608_32136609insCCCA916504724SPASTc.*951_*952insCC (n.*951_*952insCC)
c.1291_1292insCC (p.Arg431ProfsTer8)
c.1288_1289insCC (p.Arg430ProfsTer8)
c.1028_1029insCC
c.1192_1193insCC (p.Arg398ProfsTer8)
c.1065_1066insCC
c.1033_1034insCC (p.Arg345ProfsTer8)
c.450_451insCC
c.871_872insCC
c.1167_1168insCC
c.937_938insCC (p.Arg313ProfsTer8)
n.2028_2029insCC
c.741_742insCC
c.593-501_593-500insCC
c.937_938insCC
c.1195_1196insCC (p.Arg399ProfsTer8)
n.983_984insCC
c.791_792insCC
 dbSNP
2g.32136609G>ACA346502079SPASTc.*952G>A (n.*952G>A)
c.1292G>A (p.Arg431Gln)
c.1289G>A (p.Arg430Gln)
c.1029G>A
c.1193G>A (p.Arg398Gln)
c.1066G>A
c.1034G>A (p.Arg345Gln)
c.451G>A
c.872G>A
c.1168G>A
c.938G>A (p.Arg313Gln)
n.2029G>A
c.742G>A
c.593-500G>A
c.938G>A
c.1196G>A (p.Arg399Gln)
n.984G>A
c.792G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32136609G>CCA1600859SPASTc.*952G>C (n.*952G>C)
c.1292G>C (p.Arg431Pro)
c.1289G>C (p.Arg430Pro)
c.1029G>C
c.1193G>C (p.Arg398Pro)
c.1066G>C
c.1034G>C (p.Arg345Pro)
c.451G>C
c.872G>C
c.1168G>C
c.938G>C (p.Arg313Pro)
n.2029G>C
c.742G>C
c.593-500G>C
c.938G>C
c.1196G>C (p.Arg399Pro)
n.984G>C
c.792G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32136609G=CA1242501224SPASTc.*952G= (n.*952G=)
c.1292G= (p.Arg431=)
c.1289G= (p.Arg430=)
c.1029G=
c.1193G= (p.Arg398=)
c.1066G=
c.1034G= (p.Arg345=)
c.451G=
c.872G=
c.1168G=
c.938G= (p.Arg313=)
n.2029G=
c.742G=
c.593-500G=
c.938G=
c.1196G= (p.Arg399=)
n.984G=
c.792G=
2g.32136609G>TCA346502080SPASTc.*952G>T (n.*952G>T)
c.1292G>T (p.Arg431Leu)
c.1289G>T (p.Arg430Leu)
c.1029G>T
c.1193G>T (p.Arg398Leu)
c.1066G>T
c.1034G>T (p.Arg345Leu)
c.451G>T
c.872G>T
c.1168G>T
c.938G>T (p.Arg313Leu)
n.2029G>T
c.742G>T
c.593-500G>T
c.938G>T
c.1196G>T (p.Arg399Leu)
n.984G>T
c.792G>T
2g.32136609_32136611delCA2586964747SPASTc.*952_*954del (n.*952_*954del)
c.1292_1294del (p.Arg431_Glu432delinsGln)
c.1289_1291del (p.Arg430_Glu431delinsGln)
c.1029_1031del
c.1193_1195del (p.Arg398_Glu399delinsGln)
c.1066_1068del
c.1034_1036del (p.Arg345_Glu346delinsGln)
c.451_453del
c.872_874del
c.1168_1170del
c.938_940del (p.Arg313_Glu314delinsGln)
n.2029_2031del
c.742_744del
c.593-500_593-498del
c.938_940del
c.1196_1198del (p.Arg399_Glu400delinsGln)
n.984_986del
c.792_794del
2g.32136610A=CA1242501228SPASTc.*953A= (n.*953A=)
c.1293A= (p.Arg431=)
c.1290A= (p.Arg430=)
c.1030A=
c.1194A= (p.Arg398=)
c.1067A=
c.1035A= (p.Arg345=)
c.452A=
c.873A=
c.1169A=
c.939A= (p.Arg313=)
n.2030A=
c.743A=
c.593-499A=
c.939A=
c.1197A= (p.Arg399=)
n.985A=
c.793A=
2g.32136610A>CCA1600860SPASTc.*953A>C (n.*953A>C)
c.1293A>C (p.Arg431=)
c.1290A>C (p.Arg430=)
c.1030A>C
c.1194A>C (p.Arg398=)
c.1067A>C
c.1035A>C (p.Arg345=)
c.452A>C
c.873A>C
c.1169A>C
c.939A>C (p.Arg313=)
n.2030A>C
c.743A>C
c.593-499A>C
c.939A>C
c.1197A>C (p.Arg399=)
n.985A>C
c.793A>C
 dbSNP ExAC gnomAD v2
2g.32136610A>GCA425448539SPASTc.*953A>G (n.*953A>G)
c.1293A>G (p.Arg431=)
c.1290A>G (p.Arg430=)
c.1030A>G
c.1194A>G (p.Arg398=)
c.1067A>G
c.1035A>G (p.Arg345=)
c.452A>G
c.873A>G
c.1169A>G
c.939A>G (p.Arg313=)
n.2030A>G
c.743A>G
c.593-499A>G
c.939A>G
c.1197A>G (p.Arg399=)
n.985A>G
c.793A>G
2g.32136610A>TCA425448536SPASTc.*953A>T (n.*953A>T)
c.1293A>T (p.Arg431=)
c.1290A>T (p.Arg430=)
c.1030A>T
c.1194A>T (p.Arg398=)
c.1067A>T
c.1035A>T (p.Arg345=)
c.452A>T
c.873A>T
c.1169A>T
c.939A>T (p.Arg313=)
n.2030A>T
c.743A>T
c.593-499A>T
c.939A>T
c.1197A>T (p.Arg399=)
n.985A>T
c.793A>T
2g.32136610_32136611insTCA2586964749SPASTc.*953_*954insT (n.*953_*954insT)
c.1293_1294insT (p.Glu432Ter)
c.1290_1291insT (p.Glu431Ter)
c.1030_1031insT
c.1194_1195insT (p.Glu399Ter)
c.1067_1068insT
c.1035_1036insT (p.Glu346Ter)
c.452_453insT
c.873_874insT
c.1169_1170insT
c.939_940insT (p.Glu314Ter)
n.2030_2031insT
c.743_744insT
c.593-499_593-498insT
c.939_940insT
c.1197_1198insT (p.Glu400Ter)
n.985_986insT
c.793_794insT
2g.32136611G>ACA346502081SPASTc.*954G>A (n.*954G>A)
c.1294G>A (p.Glu432Lys)
c.1291G>A (p.Glu431Lys)
c.1031G>A
c.1195G>A (p.Glu399Lys)
c.1068G>A
c.1036G>A (p.Glu346Lys)
c.453G>A
c.874G>A
c.1170G>A
c.940G>A (p.Glu314Lys)
n.2031G>A
c.744G>A
c.593-498G>A
c.940G>A
c.1198G>A (p.Glu400Lys)
n.986G>A
c.794G>A
2g.32136611G>CCA346502082SPASTc.*954G>C (n.*954G>C)
c.1294G>C (p.Glu432Gln)
c.1291G>C (p.Glu431Gln)
c.1031G>C
c.1195G>C (p.Glu399Gln)
c.1068G>C
c.1036G>C (p.Glu346Gln)
c.453G>C
c.874G>C
c.1170G>C
c.940G>C (p.Glu314Gln)
n.2031G>C
c.744G>C
c.593-498G>C
c.940G>C
c.1198G>C (p.Glu400Gln)
n.986G>C
c.794G>C
2g.32136611G>TCA346502083SPASTc.*954G>T (n.*954G>T)
c.1294G>T (p.Glu432Ter)
c.1291G>T (p.Glu431Ter)
c.1031G>T
c.1195G>T (p.Glu399Ter)
c.1068G>T
c.1036G>T (p.Glu346Ter)
c.453G>T
c.874G>T
c.1170G>T
c.940G>T (p.Glu314Ter)
n.2031G>T
c.744G>T
c.593-498G>T
c.940G>T
c.1198G>T (p.Glu400Ter)
n.986G>T
c.794G>T
 COSMIC
2g.32136612A=CA1242501231SPASTc.*955A= (n.*955A=)
c.1295A= (p.Glu432=)
c.1292A= (p.Glu431=)
c.1032A=
c.1196A= (p.Glu399=)
c.1069A=
c.1037A= (p.Glu346=)
c.454A=
c.875A=
c.1171A=
c.941A= (p.Glu314=)
n.2032A=
c.745A=
c.593-497A=
c.941A=
c.1199A= (p.Glu400=)
n.987A=
c.795A=
2g.32136612A>CCA346502084SPASTc.*955A>C (n.*955A>C)
c.1295A>C (p.Glu432Ala)
c.1292A>C (p.Glu431Ala)
c.1032A>C
c.1196A>C (p.Glu399Ala)
c.1069A>C
c.1037A>C (p.Glu346Ala)
c.454A>C
c.875A>C
c.1171A>C
c.941A>C (p.Glu314Ala)
n.2032A>C
c.745A>C
c.593-497A>C
c.941A>C
c.1199A>C (p.Glu400Ala)
n.987A>C
c.795A>C
2g.32136612A>GCA346502085SPASTc.*955A>G (n.*955A>G)
c.1295A>G (p.Glu432Gly)
c.1292A>G (p.Glu431Gly)
c.1032A>G
c.1196A>G (p.Glu399Gly)
c.1069A>G
c.1037A>G (p.Glu346Gly)
c.454A>G
c.875A>G
c.1171A>G
c.941A>G (p.Glu314Gly)
n.2032A>G
c.745A>G
c.593-497A>G
c.941A>G
c.1199A>G (p.Glu400Gly)
n.987A>G
c.795A>G
 dbSNP
2g.32136612A>TCA346502086SPASTc.*955A>T (n.*955A>T)
c.1295A>T (p.Glu432Val)
c.1292A>T (p.Glu431Val)
c.1032A>T
c.1196A>T (p.Glu399Val)
c.1069A>T
c.1037A>T (p.Glu346Val)
c.454A>T
c.875A>T
c.1171A>T
c.941A>T (p.Glu314Val)
n.2032A>T
c.745A>T
c.593-497A>T
c.941A>T
c.1199A>T (p.Glu400Val)
n.987A>T
c.795A>T
2g.32136613A>CCA346502087SPASTc.*956A>C (n.*956A>C)
c.1296A>C (p.Glu432Asp)
c.1293A>C (p.Glu431Asp)
c.1033A>C
c.1197A>C (p.Glu399Asp)
c.1070A>C
c.1038A>C (p.Glu346Asp)
c.455A>C
c.876A>C
c.1172A>C
c.942A>C (p.Glu314Asp)
n.2033A>C
c.746A>C
c.593-496A>C
c.942A>C
c.1200A>C (p.Glu400Asp)
n.988A>C
c.796A>C
2g.32136613A>GCA425448559SPASTc.*956A>G (n.*956A>G)
c.1296A>G (p.Glu432=)
c.1293A>G (p.Glu431=)
c.1033A>G
c.1197A>G (p.Glu399=)
c.1070A>G
c.1038A>G (p.Glu346=)
c.455A>G
c.876A>G
c.1172A>G
c.942A>G (p.Glu314=)
n.2033A>G
c.746A>G
c.593-496A>G
c.942A>G
c.1200A>G (p.Glu400=)
n.988A>G
c.796A>G
2g.32136613A>TCA346502088SPASTc.*956A>T (n.*956A>T)
c.1296A>T (p.Glu432Asp)
c.1293A>T (p.Glu431Asp)
c.1033A>T
c.1197A>T (p.Glu399Asp)
c.1070A>T
c.1038A>T (p.Glu346Asp)
c.455A>T
c.876A>T
c.1172A>T
c.942A>T (p.Glu314Asp)
n.2033A>T
c.746A>T
c.593-496A>T
c.942A>T
c.1200A>T (p.Glu400Asp)
n.988A>T
c.796A>T
2g.32136614C>ACA346502090SPASTc.*957C>A (n.*957C>A)
c.1297C>A (p.Leu433Ile)
c.1294C>A (p.Leu432Ile)
c.1034C>A
c.1198C>A (p.Leu400Ile)
c.1071C>A
c.1039C>A (p.Leu347Ile)
c.456C>A
c.877C>A
c.1173C>A
c.943C>A (p.Leu315Ile)
n.2034C>A
c.747C>A
c.593-495C>A
c.943C>A
c.1201C>A (p.Leu401Ile)
n.989C>A
c.797C>A
2g.32136614C>GCA346502091SPASTc.*957C>G (n.*957C>G)
c.1297C>G (p.Leu433Val)
c.1294C>G (p.Leu432Val)
c.1034C>G
c.1198C>G (p.Leu400Val)
c.1071C>G
c.1039C>G (p.Leu347Val)
c.456C>G
c.877C>G
c.1173C>G
c.943C>G (p.Leu315Val)
n.2034C>G
c.747C>G
c.593-495C>G
c.943C>G
c.1201C>G (p.Leu401Val)
n.989C>G
c.797C>G
2g.32136614C>TCA346502089SPASTc.*957C>T (n.*957C>T)
c.1297C>T (p.Leu433Phe)
c.1294C>T (p.Leu432Phe)
c.1034C>T
c.1198C>T (p.Leu400Phe)
c.1071C>T
c.1039C>T (p.Leu347Phe)
c.456C>T
c.877C>T
c.1173C>T
c.943C>T (p.Leu315Phe)
n.2034C>T
c.747C>T
c.593-495C>T
c.943C>T
c.1201C>T (p.Leu401Phe)
n.989C>T
c.797C>T
2g.32136614_32136615delinsCTCA1242501235SPASTc.*957_*958delinsCT (n.*957_*958delinsCT)
c.1297_1298delinsCT (p.Leu433=)
c.1294_1295delinsCT (p.Leu432=)
c.1034_1035delinsCT
c.1198_1199delinsCT (p.Leu400=)
c.1071_1072delinsCT
c.1039_1040delinsCT (p.Leu347=)
c.456_457delinsCT
c.877_878delinsCT
c.1173_1174delinsCT
c.943_944delinsCT (p.Leu315=)
n.2034_2035delinsCT
c.747_748delinsCT
c.593-495_593-494delinsCT
c.943_944delinsCT
c.1201_1202delinsCT (p.Leu401=)
n.989_990delinsCT
c.797_798delinsCT
2g.32136615T>ACA346502092SPASTc.*958T>A (n.*958T>A)
c.1298T>A (p.Leu433His)
c.1295T>A (p.Leu432His)
c.1035T>A
c.1199T>A (p.Leu400His)
c.1072T>A
c.1040T>A (p.Leu347His)
c.457T>A
c.878T>A
c.1174T>A
c.944T>A (p.Leu315His)
n.2035T>A
c.748T>A
c.593-494T>A
c.944T>A
c.1202T>A (p.Leu401His)
n.990T>A
c.798T>A
2g.32136615T>CCA346502094SPASTc.*958T>C (n.*958T>C)
c.1298T>C (p.Leu433Pro)
c.1295T>C (p.Leu432Pro)
c.1035T>C
c.1199T>C (p.Leu400Pro)
c.1072T>C
c.1040T>C (p.Leu347Pro)
c.457T>C
c.878T>C
c.1174T>C
c.944T>C (p.Leu315Pro)
n.2035T>C
c.748T>C
c.593-494T>C
c.944T>C
c.1202T>C (p.Leu401Pro)
n.990T>C
c.798T>C
2g.32136615T>GCA346502093SPASTc.*958T>G (n.*958T>G)
c.1298T>G (p.Leu433Arg)
c.1295T>G (p.Leu432Arg)
c.1035T>G
c.1199T>G (p.Leu400Arg)
c.1072T>G
c.1040T>G (p.Leu347Arg)
c.457T>G
c.878T>G
c.1174T>G
c.944T>G (p.Leu315Arg)
n.2035T>G
c.748T>G
c.593-494T>G
c.944T>G
c.1202T>G (p.Leu401Arg)
n.990T>G
c.798T>G
2g.32136616delCA916504726SPASTc.*959del (n.*959del)
c.1299del (p.Gln434AsnfsTer4)
c.1296del (p.Gln433AsnfsTer4)
c.1036del
c.1200del (p.Gln401AsnfsTer4)
c.1073del
c.1041del (p.Gln348AsnfsTer4)
c.458del
c.879del
c.1175del
c.945del (p.Gln316AsnfsTer4)
n.2036del
c.749del
c.593-493del
c.945del
c.1203del (p.Gln402AsnfsTer4)
n.991del
c.799del
 dbSNP
2g.32136616T>ACA425448581SPASTc.*959T>A (n.*959T>A)
c.1299T>A (p.Leu433=)
c.1296T>A (p.Leu432=)
c.1036T>A
c.1200T>A (p.Leu400=)
c.1073T>A
c.1041T>A (p.Leu347=)
c.458T>A
c.879T>A
c.1175T>A
c.945T>A (p.Leu315=)
n.2036T>A
c.749T>A
c.593-493T>A
c.945T>A
c.1203T>A (p.Leu401=)
n.991T>A
c.799T>A
2g.32136616T>CCA425448578SPASTc.*959T>C (n.*959T>C)
c.1299T>C (p.Leu433=)
c.1296T>C (p.Leu432=)
c.1036T>C
c.1200T>C (p.Leu400=)
c.1073T>C
c.1041T>C (p.Leu347=)
c.458T>C
c.879T>C
c.1175T>C
c.945T>C (p.Leu315=)
n.2036T>C
c.749T>C
c.593-493T>C
c.945T>C
c.1203T>C (p.Leu401=)
n.991T>C
c.799T>C
2g.32136616T>GCA425448579SPASTc.*959T>G (n.*959T>G)
c.1299T>G (p.Leu433=)
c.1296T>G (p.Leu432=)
c.1036T>G
c.1200T>G (p.Leu400=)
c.1073T>G
c.1041T>G (p.Leu347=)
c.458T>G
c.879T>G
c.1175T>G
c.945T>G (p.Leu315=)
n.2036T>G
c.749T>G
c.593-493T>G
c.945T>G
c.1203T>G (p.Leu401=)
n.991T>G
c.799T>G

Number of alleles fetched