Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32122577_32129489delCA2573051932SPASTc.*759-4371_*905+1010del
c.1099-4371_1245+1010del
c.1096-4371_1242+1010del
c.982+6365_983-7074del
c.1000-4371_1146+1010del
c.873-4371_1019+1010del
c.841-4371_987+1010del
c.258-4371_404+1010del
c.679-4371_825+1010del
c.975-4371_1121+1010del
c.745-4371_891+1010del
c.549-4371_695+1010del
c.446-4371_592+1010del
c.1003-4371_1149+1010del
n.791-4371_937+1010del
c.674-5831_745+1010del
 ClinVar
2g.32125886_32135221delCA339674SPASTc.*759-1062_*906-1342del
c.1099-1062_1246-1342del
c.1096-1062_1243-1342del
c.982+9674_983-1342del
c.1000-1062_1147-1342del
c.873-1062_1020-1342del
c.841-1062_988-1342del
c.258-1062_405-1342del
c.679-1062_826-1342del
c.975-1062_1122-1342del
c.745-1062_892-1342del
c.549-1062_696-1342del
c.446-1062_593-1888del
c.1003-1062_1150-1342del
n.791-1062_938-1342del
c.674-2522_746-1342del
 ClinVar
2g.32125992_32134891delCA339692SPASTc.*759-956_*906-1672del
c.1099-956_1246-1672del
c.1096-956_1243-1672del
c.982+9780_983-1672del
c.1000-956_1147-1672del
c.873-956_1020-1672del
c.841-956_988-1672del
c.258-956_405-1672del
c.679-956_826-1672del
c.975-956_1122-1672del
c.745-956_892-1672del
c.549-956_696-1672del
c.446-956_593-2218del
c.1003-956_1150-1672del
n.791-956_938-1672del
c.674-2416_746-1672del
 ClinVar
2g.32126914delCA1029026466SPASTc.*759-34del (n.*759-34del)
c.1099-34del (n.1099-34del)
c.1096-34del (n.1096-34del)
c.983-9649del
c.1000-34del (n.1000-34del)
c.873-34del
c.841-34del (n.841-34del)
c.258-34del
c.679-34del
c.975-34del
c.745-34del (n.745-34del)
n.417del
n.278del
c.549-34del
c.446-34del
c.745-34del
c.1003-34del (n.1003-34del)
n.791-34del
c.674-1494del
 dbSNP gnomAD v3 gnomAD v4
2g.32126914A=CA1242497371SPASTc.*759-34A= (n.*759-34A=)
c.1099-34A= (n.1099-34A=)
c.1096-34A= (n.1096-34A=)
c.983-9649A=
c.1000-34A= (n.1000-34A=)
c.873-34A=
c.841-34A= (n.841-34A=)
c.258-34A=
c.679-34A=
c.975-34A=
c.745-34A= (n.745-34A=)
n.417A=
n.278A=
c.549-34A=
c.446-34A=
c.745-34A=
c.1003-34A= (n.1003-34A=)
n.791-34A=
c.674-1494A=
2g.32126914A>CCA767786551SPASTc.*759-34A>C (n.*759-34A>C)
c.1099-34A>C (n.1099-34A>C)
c.1096-34A>C (n.1096-34A>C)
c.983-9649A>C
c.1000-34A>C (n.1000-34A>C)
c.873-34A>C
c.841-34A>C (n.841-34A>C)
c.258-34A>C
c.679-34A>C
c.975-34A>C
c.745-34A>C (n.745-34A>C)
n.417A>C
n.278A>C
c.549-34A>C
c.446-34A>C
c.745-34A>C
c.1003-34A>C (n.1003-34A>C)
n.791-34A>C
c.674-1494A>C
 dbSNP
2g.32126915T>ACA2658526609SPASTc.*759-33T>A (n.*759-33T>A)
c.1099-33T>A (n.1099-33T>A)
c.1096-33T>A (n.1096-33T>A)
c.983-9648T>A
c.1000-33T>A (n.1000-33T>A)
c.873-33T>A
c.841-33T>A (n.841-33T>A)
c.258-33T>A
c.679-33T>A
c.975-33T>A
c.745-33T>A (n.745-33T>A)
n.418T>A
n.279T>A
c.549-33T>A
c.446-33T>A
c.745-33T>A
c.1003-33T>A (n.1003-33T>A)
n.791-33T>A
c.674-1493T>A
 gnomAD v4
2g.32126915T>CCA2658526610SPASTc.*759-33T>C (n.*759-33T>C)
c.1099-33T>C (n.1099-33T>C)
c.1096-33T>C (n.1096-33T>C)
c.983-9648T>C
c.1000-33T>C (n.1000-33T>C)
c.873-33T>C
c.841-33T>C (n.841-33T>C)
c.258-33T>C
c.679-33T>C
c.975-33T>C
c.745-33T>C (n.745-33T>C)
n.418T>C
n.279T>C
c.549-33T>C
c.446-33T>C
c.745-33T>C
c.1003-33T>C (n.1003-33T>C)
n.791-33T>C
c.674-1493T>C
 gnomAD v4
2g.32126916C>ACA2658526611SPASTc.*759-32C>A (n.*759-32C>A)
c.1099-32C>A (n.1099-32C>A)
c.1096-32C>A (n.1096-32C>A)
c.983-9647C>A
c.1000-32C>A (n.1000-32C>A)
c.873-32C>A
c.841-32C>A (n.841-32C>A)
c.258-32C>A
c.679-32C>A
c.975-32C>A
c.745-32C>A (n.745-32C>A)
n.419C>A
n.280C>A
c.549-32C>A
c.446-32C>A
c.745-32C>A
c.1003-32C>A (n.1003-32C>A)
n.791-32C>A
c.674-1492C>A
 gnomAD v4
2g.32126917A=CA1242497372SPASTc.*759-31A= (n.*759-31A=)
c.1099-31A= (n.1099-31A=)
c.1096-31A= (n.1096-31A=)
c.983-9646A=
c.1000-31A= (n.1000-31A=)
c.873-31A=
c.841-31A= (n.841-31A=)
c.258-31A=
c.679-31A=
c.975-31A=
c.745-31A= (n.745-31A=)
n.420A=
n.281A=
c.549-31A=
c.446-31A=
c.745-31A=
c.1003-31A= (n.1003-31A=)
n.791-31A=
c.674-1491A=
2g.32126917A>GCA1242497373SPASTc.*759-31A>G (n.*759-31A>G)
c.1099-31A>G (n.1099-31A>G)
c.1096-31A>G (n.1096-31A>G)
c.983-9646A>G
c.1000-31A>G (n.1000-31A>G)
c.873-31A>G
c.841-31A>G (n.841-31A>G)
c.258-31A>G
c.679-31A>G
c.975-31A>G
c.745-31A>G (n.745-31A>G)
n.420A>G
n.281A>G
c.549-31A>G
c.446-31A>G
c.745-31A>G
c.1003-31A>G (n.1003-31A>G)
n.791-31A>G
c.674-1491A>G
 dbSNP gnomAD v4
2g.32126918T>CCA2658526612SPASTc.*759-30T>C (n.*759-30T>C)
c.1099-30T>C (n.1099-30T>C)
c.1096-30T>C (n.1096-30T>C)
c.983-9645T>C
c.1000-30T>C (n.1000-30T>C)
c.873-30T>C
c.841-30T>C (n.841-30T>C)
c.258-30T>C
c.679-30T>C
c.975-30T>C
c.745-30T>C (n.745-30T>C)
n.421T>C
n.282T>C
c.549-30T>C
c.446-30T>C
c.745-30T>C
c.1003-30T>C (n.1003-30T>C)
n.791-30T>C
c.674-1490T>C
 gnomAD v4
2g.32126919A>TCA2658526613SPASTc.*759-29A>T (n.*759-29A>T)
c.1099-29A>T (n.1099-29A>T)
c.1096-29A>T (n.1096-29A>T)
c.983-9644A>T
c.1000-29A>T (n.1000-29A>T)
c.873-29A>T
c.841-29A>T (n.841-29A>T)
c.258-29A>T
c.679-29A>T
c.975-29A>T
c.745-29A>T (n.745-29A>T)
n.422A>T
n.283A>T
c.549-29A>T
c.446-29A>T
c.745-29A>T
c.1003-29A>T (n.1003-29A>T)
n.791-29A>T
c.674-1489A>T
 gnomAD v4
2g.32126921T>ACA2698806934SPASTc.*759-27T>A (n.*759-27T>A)
c.1099-27T>A (n.1099-27T>A)
c.1096-27T>A (n.1096-27T>A)
c.983-9642T>A
c.1000-27T>A (n.1000-27T>A)
c.873-27T>A
c.841-27T>A (n.841-27T>A)
c.258-27T>A
c.679-27T>A
c.975-27T>A
c.745-27T>A (n.745-27T>A)
n.424T>A
n.285T>A
c.549-27T>A
c.446-27T>A
c.745-27T>A
c.1003-27T>A (n.1003-27T>A)
n.791-27T>A
c.674-1487T>A
 dbSNP
2g.32126921T>CCA1242497374SPASTc.*759-27T>C (n.*759-27T>C)
c.1099-27T>C (n.1099-27T>C)
c.1096-27T>C (n.1096-27T>C)
c.983-9642T>C
c.1000-27T>C (n.1000-27T>C)
c.873-27T>C
c.841-27T>C (n.841-27T>C)
c.258-27T>C
c.679-27T>C
c.975-27T>C
c.745-27T>C (n.745-27T>C)
n.424T>C
n.285T>C
c.549-27T>C
c.446-27T>C
c.745-27T>C
c.1003-27T>C (n.1003-27T>C)
n.791-27T>C
c.674-1487T>C
 dbSNP
2g.32126921T=CA1242497375SPASTc.*759-27T= (n.*759-27T=)
c.1099-27T= (n.1099-27T=)
c.1096-27T= (n.1096-27T=)
c.983-9642T=
c.1000-27T= (n.1000-27T=)
c.873-27T=
c.841-27T= (n.841-27T=)
c.258-27T=
c.679-27T=
c.975-27T=
c.745-27T= (n.745-27T=)
n.424T=
n.285T=
c.549-27T=
c.446-27T=
c.745-27T=
c.1003-27T= (n.1003-27T=)
n.791-27T=
c.674-1487T=
2g.32126922T>CCA2699029555SPASTc.*759-26T>C (n.*759-26T>C)
c.1099-26T>C (n.1099-26T>C)
c.1096-26T>C (n.1096-26T>C)
c.983-9641T>C
c.1000-26T>C (n.1000-26T>C)
c.873-26T>C
c.841-26T>C (n.841-26T>C)
c.258-26T>C
c.679-26T>C
c.975-26T>C
c.745-26T>C (n.745-26T>C)
n.425T>C
n.286T>C
c.549-26T>C
c.446-26T>C
c.745-26T>C
c.1003-26T>C (n.1003-26T>C)
n.791-26T>C
c.674-1486T>C
 dbSNP
2g.32126923G>ACA2658526614SPASTc.*759-25G>A (n.*759-25G>A)
c.1099-25G>A (n.1099-25G>A)
c.1096-25G>A (n.1096-25G>A)
c.983-9640G>A
c.1000-25G>A (n.1000-25G>A)
c.873-25G>A
c.841-25G>A (n.841-25G>A)
c.258-25G>A
c.679-25G>A
c.975-25G>A
c.745-25G>A (n.745-25G>A)
n.426G>A
n.287G>A
c.549-25G>A
c.446-25G>A
c.745-25G>A
c.1003-25G>A (n.1003-25G>A)
n.791-25G>A
c.674-1485G>A
 gnomAD v4
2g.32126923G=CA1242497376SPASTc.*759-25G= (n.*759-25G=)
c.1099-25G= (n.1099-25G=)
c.1096-25G= (n.1096-25G=)
c.983-9640G=
c.1000-25G= (n.1000-25G=)
c.873-25G=
c.841-25G= (n.841-25G=)
c.258-25G=
c.679-25G=
c.975-25G=
c.745-25G= (n.745-25G=)
n.426G=
n.287G=
c.549-25G=
c.446-25G=
c.745-25G=
c.1003-25G= (n.1003-25G=)
n.791-25G=
c.674-1485G=
2g.32126923G>TCA531500397SPASTc.*759-25G>T (n.*759-25G>T)
c.1099-25G>T (n.1099-25G>T)
c.1096-25G>T (n.1096-25G>T)
c.983-9640G>T
c.1000-25G>T (n.1000-25G>T)
c.873-25G>T
c.841-25G>T (n.841-25G>T)
c.258-25G>T
c.679-25G>T
c.975-25G>T
c.745-25G>T (n.745-25G>T)
n.426G>T
n.287G>T
c.549-25G>T
c.446-25G>T
c.745-25G>T
c.1003-25G>T (n.1003-25G>T)
n.791-25G>T
c.674-1485G>T
 dbSNP gnomAD v2
2g.32126924T>GCA767786558SPASTc.*759-24T>G (n.*759-24T>G)
c.1099-24T>G (n.1099-24T>G)
c.1096-24T>G (n.1096-24T>G)
c.983-9639T>G
c.1000-24T>G (n.1000-24T>G)
c.873-24T>G
c.841-24T>G (n.841-24T>G)
c.258-24T>G
c.679-24T>G
c.975-24T>G
c.745-24T>G (n.745-24T>G)
n.427T>G
n.288T>G
c.549-24T>G
c.446-24T>G
c.745-24T>G
c.1003-24T>G (n.1003-24T>G)
n.791-24T>G
c.674-1484T>G
 dbSNP gnomAD v3 gnomAD v4
2g.32126924T=CA1242497377SPASTc.*759-24T= (n.*759-24T=)
c.1099-24T= (n.1099-24T=)
c.1096-24T= (n.1096-24T=)
c.983-9639T=
c.1000-24T= (n.1000-24T=)
c.873-24T=
c.841-24T= (n.841-24T=)
c.258-24T=
c.679-24T=
c.975-24T=
c.745-24T= (n.745-24T=)
n.427T=
n.288T=
c.549-24T=
c.446-24T=
c.745-24T=
c.1003-24T= (n.1003-24T=)
n.791-24T=
c.674-1484T=
2g.32126927delCA2576930309SPASTc.*759-21del (n.*759-21del)
c.1099-21del (n.1099-21del)
c.1096-21del (n.1096-21del)
c.983-9636del
c.1000-21del (n.1000-21del)
c.873-21del
c.841-21del (n.841-21del)
c.258-21del
c.679-21del
c.975-21del
c.745-21del (n.745-21del)
n.430del
n.291del
c.549-21del
c.446-21del
c.745-21del
c.1003-21del (n.1003-21del)
n.791-21del
c.674-1481del
 gnomAD v4
2g.32126926A>CCA2749393446SPASTc.*759-22A>C (n.*759-22A>C)
c.1099-22A>C (n.1099-22A>C)
c.1096-22A>C (n.1096-22A>C)
c.983-9637A>C
c.1000-22A>C (n.1000-22A>C)
c.873-22A>C
c.841-22A>C (n.841-22A>C)
c.258-22A>C
c.679-22A>C
c.975-22A>C
c.745-22A>C (n.745-22A>C)
n.429A>C
n.290A>C
c.549-22A>C
c.446-22A>C
c.745-22A>C
c.1003-22A>C (n.1003-22A>C)
n.791-22A>C
c.674-1482A>C
2g.32126927A>GCA2658526615SPASTc.*759-21A>G (n.*759-21A>G)
c.1099-21A>G (n.1099-21A>G)
c.1096-21A>G (n.1096-21A>G)
c.983-9636A>G
c.1000-21A>G (n.1000-21A>G)
c.873-21A>G
c.841-21A>G (n.841-21A>G)
c.258-21A>G
c.679-21A>G
c.975-21A>G
c.745-21A>G (n.745-21A>G)
n.430A>G
n.291A>G
c.549-21A>G
c.446-21A>G
c.745-21A>G
c.1003-21A>G (n.1003-21A>G)
n.791-21A>G
c.674-1481A>G
 gnomAD v4
2g.32126928C>ACA44741580SPASTc.*759-20C>A (n.*759-20C>A)
c.1099-20C>A (n.1099-20C>A)
c.1096-20C>A (n.1096-20C>A)
c.983-9635C>A
c.1000-20C>A (n.1000-20C>A)
c.873-20C>A
c.841-20C>A (n.841-20C>A)
c.258-20C>A
c.679-20C>A
c.975-20C>A
c.745-20C>A (n.745-20C>A)
n.431C>A
n.292C>A
c.549-20C>A
c.446-20C>A
c.745-20C>A
c.1003-20C>A (n.1003-20C>A)
n.791-20C>A
c.674-1480C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32126928C=CA1242497378SPASTc.*759-20C= (n.*759-20C=)
c.1099-20C= (n.1099-20C=)
c.1096-20C= (n.1096-20C=)
c.983-9635C=
c.1000-20C= (n.1000-20C=)
c.873-20C=
c.841-20C= (n.841-20C=)
c.258-20C=
c.679-20C=
c.975-20C=
c.745-20C= (n.745-20C=)
n.431C=
n.292C=
c.549-20C=
c.446-20C=
c.745-20C=
c.1003-20C= (n.1003-20C=)
n.791-20C=
c.674-1480C=
2g.32126928C>GCA1600805SPASTc.*759-20C>G (n.*759-20C>G)
c.1099-20C>G (n.1099-20C>G)
c.1096-20C>G (n.1096-20C>G)
c.983-9635C>G
c.1000-20C>G (n.1000-20C>G)
c.873-20C>G
c.841-20C>G (n.841-20C>G)
c.258-20C>G
c.679-20C>G
c.975-20C>G
c.745-20C>G (n.745-20C>G)
n.431C>G
n.292C>G
c.549-20C>G
c.446-20C>G
c.745-20C>G
c.1003-20C>G (n.1003-20C>G)
n.791-20C>G
c.674-1480C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32126928C>TCA2658526616SPASTc.*759-20C>T (n.*759-20C>T)
c.1099-20C>T (n.1099-20C>T)
c.1096-20C>T (n.1096-20C>T)
c.983-9635C>T
c.1000-20C>T (n.1000-20C>T)
c.873-20C>T
c.841-20C>T (n.841-20C>T)
c.258-20C>T
c.679-20C>T
c.975-20C>T
c.745-20C>T (n.745-20C>T)
n.431C>T
n.292C>T
c.549-20C>T
c.446-20C>T
c.745-20C>T
c.1003-20C>T (n.1003-20C>T)
n.791-20C>T
c.674-1480C>T
 gnomAD v4
2g.32126929T>GCA2658526617SPASTc.*759-19T>G (n.*759-19T>G)
c.1099-19T>G (n.1099-19T>G)
c.1096-19T>G (n.1096-19T>G)
c.983-9634T>G
c.1000-19T>G (n.1000-19T>G)
c.873-19T>G
c.841-19T>G (n.841-19T>G)
c.258-19T>G
c.679-19T>G
c.975-19T>G
c.745-19T>G (n.745-19T>G)
n.432T>G
n.293T>G
c.549-19T>G
c.446-19T>G
c.745-19T>G
c.1003-19T>G (n.1003-19T>G)
n.791-19T>G
c.674-1479T>G
 gnomAD v4
2g.32126930A=CA1242497379SPASTc.*759-18A= (n.*759-18A=)
c.1099-18A= (n.1099-18A=)
c.1096-18A= (n.1096-18A=)
c.983-9633A=
c.1000-18A= (n.1000-18A=)
c.873-18A=
c.841-18A= (n.841-18A=)
c.258-18A=
c.679-18A=
c.975-18A=
c.745-18A= (n.745-18A=)
n.433A=
n.294A=
c.549-18A=
c.446-18A=
c.745-18A=
c.1003-18A= (n.1003-18A=)
n.791-18A=
c.674-1478A=
2g.32126930A>GCA767786562SPASTc.*759-18A>G (n.*759-18A>G)
c.1099-18A>G (n.1099-18A>G)
c.1096-18A>G (n.1096-18A>G)
c.983-9633A>G
c.1000-18A>G (n.1000-18A>G)
c.873-18A>G
c.841-18A>G (n.841-18A>G)
c.258-18A>G
c.679-18A>G
c.975-18A>G
c.745-18A>G (n.745-18A>G)
n.433A>G
n.294A>G
c.549-18A>G
c.446-18A>G
c.745-18A>G
c.1003-18A>G (n.1003-18A>G)
n.791-18A>G
c.674-1478A>G
 dbSNP gnomAD v3 gnomAD v4
2g.32126932delCA2576930310SPASTc.*759-16del (n.*759-16del)
c.1099-16del (n.1099-16del)
c.1096-16del (n.1096-16del)
c.983-9631del
c.1000-16del (n.1000-16del)
c.873-16del
c.841-16del (n.841-16del)
c.258-16del
c.679-16del
c.975-16del
c.745-16del (n.745-16del)
n.435del
n.296del
c.549-16del
c.446-16del
c.745-16del
c.1003-16del (n.1003-16del)
n.791-16del
c.674-1476del
 gnomAD v4
2g.32126931A=CA1242497380SPASTc.*759-17A= (n.*759-17A=)
c.1099-17A= (n.1099-17A=)
c.1096-17A= (n.1096-17A=)
c.983-9632A=
c.1000-17A= (n.1000-17A=)
c.873-17A=
c.841-17A= (n.841-17A=)
c.258-17A=
c.679-17A=
c.975-17A=
c.745-17A= (n.745-17A=)
n.434A=
n.295A=
c.549-17A=
c.446-17A=
c.745-17A=
c.1003-17A= (n.1003-17A=)
n.791-17A=
c.674-1477A=
2g.32126931A>CCA531500398SPASTc.*759-17A>C (n.*759-17A>C)
c.1099-17A>C (n.1099-17A>C)
c.1096-17A>C (n.1096-17A>C)
c.983-9632A>C
c.1000-17A>C (n.1000-17A>C)
c.873-17A>C
c.841-17A>C (n.841-17A>C)
c.258-17A>C
c.679-17A>C
c.975-17A>C
c.745-17A>C (n.745-17A>C)
n.434A>C
n.295A>C
c.549-17A>C
c.446-17A>C
c.745-17A>C
c.1003-17A>C (n.1003-17A>C)
n.791-17A>C
c.674-1477A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32126931A>GCA2658526618SPASTc.*759-17A>G (n.*759-17A>G)
c.1099-17A>G (n.1099-17A>G)
c.1096-17A>G (n.1096-17A>G)
c.983-9632A>G
c.1000-17A>G (n.1000-17A>G)
c.873-17A>G
c.841-17A>G (n.841-17A>G)
c.258-17A>G
c.679-17A>G
c.975-17A>G
c.745-17A>G (n.745-17A>G)
n.434A>G
n.295A>G
c.549-17A>G
c.446-17A>G
c.745-17A>G
c.1003-17A>G (n.1003-17A>G)
n.791-17A>G
c.674-1477A>G
 gnomAD v4
2g.32126932A=CA1242497381SPASTc.*759-16A= (n.*759-16A=)
c.1099-16A= (n.1099-16A=)
c.1096-16A= (n.1096-16A=)
c.983-9631A=
c.1000-16A= (n.1000-16A=)
c.873-16A=
c.841-16A= (n.841-16A=)
c.258-16A=
c.679-16A=
c.975-16A=
c.745-16A= (n.745-16A=)
n.435A=
n.296A=
c.549-16A=
c.446-16A=
c.745-16A=
c.1003-16A= (n.1003-16A=)
n.791-16A=
c.674-1476A=
2g.32126932A>GCA531500399SPASTc.*759-16A>G (n.*759-16A>G)
c.1099-16A>G (n.1099-16A>G)
c.1096-16A>G (n.1096-16A>G)
c.983-9631A>G
c.1000-16A>G (n.1000-16A>G)
c.873-16A>G
c.841-16A>G (n.841-16A>G)
c.258-16A>G
c.679-16A>G
c.975-16A>G
c.745-16A>G (n.745-16A>G)
n.435A>G
n.296A>G
c.549-16A>G
c.446-16A>G
c.745-16A>G
c.1003-16A>G (n.1003-16A>G)
n.791-16A>G
c.674-1476A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32126933G>ACA531500400SPASTc.*759-15G>A (n.*759-15G>A)
c.1099-15G>A (n.1099-15G>A)
c.1096-15G>A (n.1096-15G>A)
c.983-9630G>A
c.1000-15G>A (n.1000-15G>A)
c.873-15G>A
c.841-15G>A (n.841-15G>A)
c.258-15G>A
c.679-15G>A
c.975-15G>A
c.745-15G>A (n.745-15G>A)
n.436G>A
n.297G>A
c.549-15G>A
c.446-15G>A
c.745-15G>A
c.1003-15G>A (n.1003-15G>A)
n.791-15G>A
c.674-1475G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32126933G=CA1242497382SPASTc.*759-15G= (n.*759-15G=)
c.1099-15G= (n.1099-15G=)
c.1096-15G= (n.1096-15G=)
c.983-9630G=
c.1000-15G= (n.1000-15G=)
c.873-15G=
c.841-15G= (n.841-15G=)
c.258-15G=
c.679-15G=
c.975-15G=
c.745-15G= (n.745-15G=)
n.436G=
n.297G=
c.549-15G=
c.446-15G=
c.745-15G=
c.1003-15G= (n.1003-15G=)
n.791-15G=
c.674-1475G=
2g.32126934T>ACA2576930312SPASTc.*759-14T>A (n.*759-14T>A)
c.1099-14T>A (n.1099-14T>A)
c.1096-14T>A (n.1096-14T>A)
c.983-9629T>A
c.1000-14T>A (n.1000-14T>A)
c.873-14T>A
c.841-14T>A (n.841-14T>A)
c.258-14T>A
c.679-14T>A
c.975-14T>A
c.745-14T>A (n.745-14T>A)
n.437T>A
n.298T>A
c.549-14T>A
c.446-14T>A
c.745-14T>A
c.1003-14T>A (n.1003-14T>A)
n.791-14T>A
c.674-1474T>A
 gnomAD v4
2g.32126934T>GCA531500401SPASTc.*759-14T>G (n.*759-14T>G)
c.1099-14T>G (n.1099-14T>G)
c.1096-14T>G (n.1096-14T>G)
c.983-9629T>G
c.1000-14T>G (n.1000-14T>G)
c.873-14T>G
c.841-14T>G (n.841-14T>G)
c.258-14T>G
c.679-14T>G
c.975-14T>G
c.745-14T>G (n.745-14T>G)
n.437T>G
n.298T>G
c.549-14T>G
c.446-14T>G
c.745-14T>G
c.1003-14T>G (n.1003-14T>G)
n.791-14T>G
c.674-1474T>G
 dbSNP gnomAD v2 gnomAD v4
2g.32126934T=CA1242497383SPASTc.*759-14T= (n.*759-14T=)
c.1099-14T= (n.1099-14T=)
c.1096-14T= (n.1096-14T=)
c.983-9629T=
c.1000-14T= (n.1000-14T=)
c.873-14T=
c.841-14T= (n.841-14T=)
c.258-14T=
c.679-14T=
c.975-14T=
c.745-14T= (n.745-14T=)
n.437T=
n.298T=
c.549-14T=
c.446-14T=
c.745-14T=
c.1003-14T= (n.1003-14T=)
n.791-14T=
c.674-1474T=
2g.32126935A=CA1242497384SPASTc.*759-13A= (n.*759-13A=)
c.1099-13A= (n.1099-13A=)
c.1096-13A= (n.1096-13A=)
c.983-9628A=
c.1000-13A= (n.1000-13A=)
c.873-13A=
c.841-13A= (n.841-13A=)
c.258-13A=
c.679-13A=
c.975-13A=
c.745-13A= (n.745-13A=)
n.438A=
n.299A=
c.549-13A=
c.446-13A=
c.745-13A=
c.1003-13A= (n.1003-13A=)
n.791-13A=
c.674-1473A=
2g.32126935A>GCA531500402SPASTc.*759-13A>G (n.*759-13A>G)
c.1099-13A>G (n.1099-13A>G)
c.1096-13A>G (n.1096-13A>G)
c.983-9628A>G
c.1000-13A>G (n.1000-13A>G)
c.873-13A>G
c.841-13A>G (n.841-13A>G)
c.258-13A>G
c.679-13A>G
c.975-13A>G
c.745-13A>G (n.745-13A>G)
n.438A>G
n.299A>G
c.549-13A>G
c.446-13A>G
c.745-13A>G
c.1003-13A>G (n.1003-13A>G)
n.791-13A>G
c.674-1473A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32126935A>TCA2658526619SPASTc.*759-13A>T (n.*759-13A>T)
c.1099-13A>T (n.1099-13A>T)
c.1096-13A>T (n.1096-13A>T)
c.983-9628A>T
c.1000-13A>T (n.1000-13A>T)
c.873-13A>T
c.841-13A>T (n.841-13A>T)
c.258-13A>T
c.679-13A>T
c.975-13A>T
c.745-13A>T (n.745-13A>T)
n.438A>T
n.299A>T
c.549-13A>T
c.446-13A>T
c.745-13A>T
c.1003-13A>T (n.1003-13A>T)
n.791-13A>T
c.674-1473A>T
 gnomAD v4
2g.32126936T>CCA531500403SPASTc.*759-12T>C (n.*759-12T>C)
c.1099-12T>C (n.1099-12T>C)
c.1096-12T>C (n.1096-12T>C)
c.983-9627T>C
c.1000-12T>C (n.1000-12T>C)
c.873-12T>C
c.841-12T>C (n.841-12T>C)
c.258-12T>C
c.679-12T>C
c.975-12T>C
c.745-12T>C (n.745-12T>C)
n.439T>C
n.300T>C
c.549-12T>C
c.446-12T>C
c.745-12T>C
c.1003-12T>C (n.1003-12T>C)
n.791-12T>C
c.674-1472T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32126936T=CA1242497385SPASTc.*759-12T= (n.*759-12T=)
c.1099-12T= (n.1099-12T=)
c.1096-12T= (n.1096-12T=)
c.983-9627T=
c.1000-12T= (n.1000-12T=)
c.873-12T=
c.841-12T= (n.841-12T=)
c.258-12T=
c.679-12T=
c.975-12T=
c.745-12T= (n.745-12T=)
n.439T=
n.300T=
c.549-12T=
c.446-12T=
c.745-12T=
c.1003-12T= (n.1003-12T=)
n.791-12T=
c.674-1472T=
2g.32126937A=CA1242497386SPASTc.*759-11A= (n.*759-11A=)
c.1099-11A= (n.1099-11A=)
c.1096-11A= (n.1096-11A=)
c.983-9626A=
c.1000-11A= (n.1000-11A=)
c.873-11A=
c.841-11A= (n.841-11A=)
c.258-11A=
c.679-11A=
c.975-11A=
c.745-11A= (n.745-11A=)
n.440A=
n.301A=
c.549-11A=
c.446-11A=
c.745-11A=
c.1003-11A= (n.1003-11A=)
n.791-11A=
c.674-1471A=
2g.32126937A>GCA1600806SPASTc.*759-11A>G (n.*759-11A>G)
c.1099-11A>G (n.1099-11A>G)
c.1096-11A>G (n.1096-11A>G)
c.983-9626A>G
c.1000-11A>G (n.1000-11A>G)
c.873-11A>G
c.841-11A>G (n.841-11A>G)
c.258-11A>G
c.679-11A>G
c.975-11A>G
c.745-11A>G (n.745-11A>G)
n.440A>G
n.301A>G
c.549-11A>G
c.446-11A>G
c.745-11A>G
c.1003-11A>G (n.1003-11A>G)
n.791-11A>G
c.674-1471A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32126938T>CCA2658526620SPASTc.*759-10T>C (n.*759-10T>C)
c.1099-10T>C (n.1099-10T>C)
c.1096-10T>C (n.1096-10T>C)
c.983-9625T>C
c.1000-10T>C (n.1000-10T>C)
c.873-10T>C
c.841-10T>C (n.841-10T>C)
c.258-10T>C
c.679-10T>C
c.975-10T>C
c.745-10T>C (n.745-10T>C)
n.441T>C
n.302T>C
c.549-10T>C
c.446-10T>C
c.745-10T>C
c.1003-10T>C (n.1003-10T>C)
n.791-10T>C
c.674-1470T>C
 gnomAD v4
2g.32126939A=CA1242497387SPASTc.*759-9A= (n.*759-9A=)
c.1099-9A= (n.1099-9A=)
c.1096-9A= (n.1096-9A=)
c.983-9624A=
c.1000-9A= (n.1000-9A=)
c.873-9A=
c.841-9A= (n.841-9A=)
c.258-9A=
c.679-9A=
c.975-9A=
c.745-9A= (n.745-9A=)
n.442A=
n.303A=
c.549-9A=
c.446-9A=
c.745-9A=
c.1003-9A= (n.1003-9A=)
n.791-9A=
c.674-1469A=
2g.32126939A>GCA1600807SPASTc.*759-9A>G (n.*759-9A>G)
c.1099-9A>G (n.1099-9A>G)
c.1096-9A>G (n.1096-9A>G)
c.983-9624A>G
c.1000-9A>G (n.1000-9A>G)
c.873-9A>G
c.841-9A>G (n.841-9A>G)
c.258-9A>G
c.679-9A>G
c.975-9A>G
c.745-9A>G (n.745-9A>G)
n.442A>G
n.303A>G
c.549-9A>G
c.446-9A>G
c.745-9A>G
c.1003-9A>G (n.1003-9A>G)
n.791-9A>G
c.674-1469A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32126945delCA2658526621SPASTc.*759-3del (n.*759-3del)
c.1099-3del (n.1099-3del)
c.1096-3del (n.1096-3del)
c.983-9618del
c.1000-3del (n.1000-3del)
c.873-3del
c.841-3del (n.841-3del)
c.258-3del
c.679-3del
c.975-3del
c.745-3del (n.745-3del)
n.448del
n.309del
c.549-3del
c.446-3del
c.745-3del
c.1003-3del (n.1003-3del)
n.791-3del
c.674-1463del
 gnomAD v4
2g.32126940_32126941insACA2658526622SPASTc.*759-8_*759-7insA (n.*759-8_*759-7insA)
c.1099-8_1099-7insA (n.1099-8_1099-7insA)
c.1096-8_1096-7insA (n.1096-8_1096-7insA)
c.983-9623_983-9622insA
c.1000-8_1000-7insA (n.1000-8_1000-7insA)
c.873-8_873-7insA
c.841-8_841-7insA (n.841-8_841-7insA)
c.258-8_258-7insA
c.679-8_679-7insA
c.975-8_975-7insA
c.745-8_745-7insA (n.745-8_745-7insA)
n.443_444insA
n.304_305insA
c.549-8_549-7insA
c.446-8_446-7insA
c.745-8_745-7insA
c.1003-8_1003-7insA (n.1003-8_1003-7insA)
n.791-8_791-7insA
c.674-1468_674-1467insA
 gnomAD v4
2g.32126941T>ACA2576930317SPASTc.*759-7T>A (n.*759-7T>A)
c.1099-7T>A (n.1099-7T>A)
c.1096-7T>A (n.1096-7T>A)
c.983-9622T>A
c.1000-7T>A (n.1000-7T>A)
c.873-7T>A
c.841-7T>A (n.841-7T>A)
c.258-7T>A
c.679-7T>A
c.975-7T>A
c.745-7T>A (n.745-7T>A)
n.444T>A
n.305T>A
c.549-7T>A
c.446-7T>A
c.745-7T>A
c.1003-7T>A (n.1003-7T>A)
n.791-7T>A
c.674-1467T>A
2g.32126942T>ACA2658526623SPASTc.*759-6T>A (n.*759-6T>A)
c.1099-6T>A (n.1099-6T>A)
c.1096-6T>A (n.1096-6T>A)
c.983-9621T>A
c.1000-6T>A (n.1000-6T>A)
c.873-6T>A
c.841-6T>A (n.841-6T>A)
c.258-6T>A
c.679-6T>A
c.975-6T>A
c.745-6T>A (n.745-6T>A)
n.445T>A
n.306T>A
c.549-6T>A
c.446-6T>A
c.745-6T>A
c.1003-6T>A (n.1003-6T>A)
n.791-6T>A
c.674-1466T>A
 gnomAD v4
2g.32126942T>CCA2576930318SPASTc.*759-6T>C (n.*759-6T>C)
c.1099-6T>C (n.1099-6T>C)
c.1096-6T>C (n.1096-6T>C)
c.983-9621T>C
c.1000-6T>C (n.1000-6T>C)
c.873-6T>C
c.841-6T>C (n.841-6T>C)
c.258-6T>C
c.679-6T>C
c.975-6T>C
c.745-6T>C (n.745-6T>C)
n.445T>C
n.306T>C
c.549-6T>C
c.446-6T>C
c.745-6T>C
c.1003-6T>C (n.1003-6T>C)
n.791-6T>C
c.674-1466T>C
2g.32126944T>GCA1029026476SPASTc.*759-4T>G (n.*759-4T>G)
c.1099-4T>G (n.1099-4T>G)
c.1096-4T>G (n.1096-4T>G)
c.983-9619T>G
c.1000-4T>G (n.1000-4T>G)
c.873-4T>G
c.841-4T>G (n.841-4T>G)
c.258-4T>G
c.679-4T>G
c.975-4T>G
c.745-4T>G (n.745-4T>G)
n.447T>G
n.308T>G
c.549-4T>G
c.446-4T>G
c.745-4T>G
c.1003-4T>G (n.1003-4T>G)
n.791-4T>G
c.674-1464T>G
 dbSNP gnomAD v3 gnomAD v4
2g.32126944T=CA1242497388SPASTc.*759-4T= (n.*759-4T=)
c.1099-4T= (n.1099-4T=)
c.1096-4T= (n.1096-4T=)
c.983-9619T=
c.1000-4T= (n.1000-4T=)
c.873-4T=
c.841-4T= (n.841-4T=)
c.258-4T=
c.679-4T=
c.975-4T=
c.745-4T= (n.745-4T=)
n.447T=
n.308T=
c.549-4T=
c.446-4T=
c.745-4T=
c.1003-4T= (n.1003-4T=)
n.791-4T=
c.674-1464T=
2g.32126945T>CCA2576930319SPASTc.*759-3T>C (n.*759-3T>C)
c.1099-3T>C (n.1099-3T>C)
c.1096-3T>C (n.1096-3T>C)
c.983-9618T>C
c.1000-3T>C (n.1000-3T>C)
c.873-3T>C
c.841-3T>C (n.841-3T>C)
c.258-3T>C
c.679-3T>C
c.975-3T>C
c.745-3T>C (n.745-3T>C)
n.448T>C
n.309T>C
c.549-3T>C
c.446-3T>C
c.745-3T>C
c.1003-3T>C (n.1003-3T>C)
n.791-3T>C
c.674-1463T>C
 gnomAD v4
2g.32126945T>GCA44741606SPASTc.*759-3T>G (n.*759-3T>G)
c.1099-3T>G (n.1099-3T>G)
c.1096-3T>G (n.1096-3T>G)
c.983-9618T>G
c.1000-3T>G (n.1000-3T>G)
c.873-3T>G
c.841-3T>G (n.841-3T>G)
c.258-3T>G
c.679-3T>G
c.975-3T>G
c.745-3T>G (n.745-3T>G)
n.448T>G
n.309T>G
c.549-3T>G
c.446-3T>G
c.745-3T>G
c.1003-3T>G (n.1003-3T>G)
n.791-3T>G
c.674-1463T>G
 dbSNP
2g.32126945T=CA1242497389SPASTc.*759-3T= (n.*759-3T=)
c.1099-3T= (n.1099-3T=)
c.1096-3T= (n.1096-3T=)
c.983-9618T=
c.1000-3T= (n.1000-3T=)
c.873-3T=
c.841-3T= (n.841-3T=)
c.258-3T=
c.679-3T=
c.975-3T=
c.745-3T= (n.745-3T=)
n.448T=
n.309T=
c.549-3T=
c.446-3T=
c.745-3T=
c.1003-3T= (n.1003-3T=)
n.791-3T=
c.674-1463T=
2g.32126946_32126948delCA2586964642SPASTc.*759-2_*759del
c.1099-2_1099del
c.1096-2_1096del
c.983-9617_983-9615del
c.1000-2_1000del
c.873-2_873del
c.841-2_841del
c.258-2_258del
c.679-2_679del
c.975-2_975del
c.745-2_745del
n.449_451del
n.310_312del
c.549-2_549del
c.446-2_446del
c.1003-2_1003del
n.791-2_791del
c.674-1462_674-1460del
2g.32126946A>CCA346501184SPASTc.*759-2A>C (n.*759-2A>C)
c.1099-2A>C (n.1099-2A>C)
c.1096-2A>C (n.1096-2A>C)
c.983-9617A>C
c.1000-2A>C (n.1000-2A>C)
c.873-2A>C
c.841-2A>C (n.841-2A>C)
c.258-2A>C
c.679-2A>C
c.975-2A>C
c.745-2A>C (n.745-2A>C)
n.449A>C
n.310A>C
c.549-2A>C
c.446-2A>C
c.745-2A>C
c.1003-2A>C (n.1003-2A>C)
n.791-2A>C
c.674-1462A>C
 ClinVar
2g.32126946A>GCA346501185SPASTc.*759-2A>G (n.*759-2A>G)
c.1099-2A>G (n.1099-2A>G)
c.1096-2A>G (n.1096-2A>G)
c.983-9617A>G
c.1000-2A>G (n.1000-2A>G)
c.873-2A>G
c.841-2A>G (n.841-2A>G)
c.258-2A>G
c.679-2A>G
c.975-2A>G
c.745-2A>G (n.745-2A>G)
n.449A>G
n.310A>G
c.549-2A>G
c.446-2A>G
c.745-2A>G
c.1003-2A>G (n.1003-2A>G)
n.791-2A>G
c.674-1462A>G
2g.32126946A>TCA346501186SPASTc.*759-2A>T (n.*759-2A>T)
c.1099-2A>T (n.1099-2A>T)
c.1096-2A>T (n.1096-2A>T)
c.983-9617A>T
c.1000-2A>T (n.1000-2A>T)
c.873-2A>T
c.841-2A>T (n.841-2A>T)
c.258-2A>T
c.679-2A>T
c.975-2A>T
c.745-2A>T (n.745-2A>T)
n.449A>T
n.310A>T
c.549-2A>T
c.446-2A>T
c.745-2A>T
c.1003-2A>T (n.1003-2A>T)
n.791-2A>T
c.674-1462A>T
 gnomAD v4
2g.32126947G>ACA346501187SPASTc.*759-1G>A (n.*759-1G>A)
c.1099-1G>A (n.1099-1G>A)
c.1096-1G>A (n.1096-1G>A)
c.983-9616G>A
c.1000-1G>A (n.1000-1G>A)
c.873-1G>A
c.841-1G>A (n.841-1G>A)
c.258-1G>A
c.679-1G>A
c.975-1G>A
c.745-1G>A (n.745-1G>A)
n.450G>A
n.311G>A
c.549-1G>A
c.446-1G>A
c.745-1G>A
c.1003-1G>A (n.1003-1G>A)
n.791-1G>A
c.674-1461G>A
 ClinVar dbSNP
2g.32126947G>CCA346501188SPASTc.*759-1G>C (n.*759-1G>C)
c.1099-1G>C (n.1099-1G>C)
c.1096-1G>C (n.1096-1G>C)
c.983-9616G>C
c.1000-1G>C (n.1000-1G>C)
c.873-1G>C
c.841-1G>C (n.841-1G>C)
c.258-1G>C
c.679-1G>C
c.975-1G>C
c.745-1G>C (n.745-1G>C)
n.450G>C
n.311G>C
c.549-1G>C
c.446-1G>C
c.745-1G>C
c.1003-1G>C (n.1003-1G>C)
n.791-1G>C
c.674-1461G>C
 ClinVar gnomAD v4
2g.32126947G>TCA346501189SPASTc.*759-1G>T (n.*759-1G>T)
c.1099-1G>T (n.1099-1G>T)
c.1096-1G>T (n.1096-1G>T)
c.983-9616G>T
c.1000-1G>T (n.1000-1G>T)
c.873-1G>T
c.841-1G>T (n.841-1G>T)
c.258-1G>T
c.679-1G>T
c.975-1G>T
c.745-1G>T (n.745-1G>T)
n.450G>T
n.311G>T
c.549-1G>T
c.446-1G>T
c.745-1G>T
c.1003-1G>T (n.1003-1G>T)
n.791-1G>T
c.674-1461G>T
2g.32126950_32126952delCA2586964645SPASTc.*761_*763del
c.1101_1103del
c.1098_1100del
c.983-9613_983-9611del
c.1002_1004del
c.875_877del
c.843_845del
c.260_262del
c.681_683del
c.977_979del
c.747_749del
n.453_455del
n.314_316del
c.551_553del
c.448_450del
c.1005_1007del
n.793_795del
c.674-1458_674-1456del
2g.32126948T>ACA346501190SPASTc.*759T>A (n.*759T>A)
c.1099T>A (p.Leu367Met)
c.1096T>A (p.Leu366Met)
c.983-9615T>A
c.1000T>A (p.Leu334Met)
c.873T>A
c.841T>A (p.Leu281Met)
c.258T>A
c.679T>A
c.975T>A
c.745T>A (p.Leu249Met)
n.451T>A
n.312T>A
c.549T>A
c.446T>A
c.745T>A
c.1003T>A (p.Leu335Met)
n.791T>A
c.674-1460T>A
2g.32126948T>CCA425446549SPASTc.*759T>C (n.*759T>C)
c.1099T>C (p.Leu367=)
c.1096T>C (p.Leu366=)
c.983-9615T>C
c.1000T>C (p.Leu334=)
c.873T>C
c.841T>C (p.Leu281=)
c.258T>C
c.679T>C
c.975T>C
c.745T>C (p.Leu249=)
n.451T>C
n.312T>C
c.549T>C
c.446T>C
c.745T>C
c.1003T>C (p.Leu335=)
n.791T>C
c.674-1460T>C
 dbSNP gnomAD v3 gnomAD v4
2g.32126948T>GCA346501191SPASTc.*759T>G (n.*759T>G)
c.1099T>G (p.Leu367Val)
c.1096T>G (p.Leu366Val)
c.983-9615T>G
c.1000T>G (p.Leu334Val)
c.873T>G
c.841T>G (p.Leu281Val)
c.258T>G
c.679T>G
c.975T>G
c.745T>G (p.Leu249Val)
n.451T>G
n.312T>G
c.549T>G
c.446T>G
c.745T>G
c.1003T>G (p.Leu335Val)
n.791T>G
c.674-1460T>G
2g.32126948T=CA1242497390SPASTc.*759T= (n.*759T=)
c.1099T= (p.Leu367=)
c.1096T= (p.Leu366=)
c.983-9615T=
c.1000T= (p.Leu334=)
c.873T=
c.841T= (p.Leu281=)
c.258T=
c.679T=
c.975T=
c.745T= (p.Leu249=)
n.451T=
n.312T=
c.549T=
c.446T=
c.745T=
c.1003T= (p.Leu335=)
n.791T=
c.674-1460T=
2g.32126949T>ACA346501192SPASTc.*760T>A (n.*760T>A)
c.1100T>A (p.Leu367Ter)
c.1097T>A (p.Leu366Ter)
c.983-9614T>A
c.1001T>A (p.Leu334Ter)
c.874T>A
c.842T>A (p.Leu281Ter)
c.259T>A
c.680T>A
c.976T>A
c.746T>A (p.Leu249Ter)
n.452T>A
n.313T>A
c.550T>A
c.447T>A
c.746T>A
c.1004T>A (p.Leu335Ter)
n.792T>A
c.674-1459T>A
2g.32126949T>CCA346501194SPASTc.*760T>C (n.*760T>C)
c.1100T>C (p.Leu367Ser)
c.1097T>C (p.Leu366Ser)
c.983-9614T>C
c.1001T>C (p.Leu334Ser)
c.874T>C
c.842T>C (p.Leu281Ser)
c.259T>C
c.680T>C
c.976T>C
c.746T>C (p.Leu249Ser)
n.452T>C
n.313T>C
c.550T>C
c.447T>C
c.746T>C
c.1004T>C (p.Leu335Ser)
n.792T>C
c.674-1459T>C
2g.32126949T>GCA346501193SPASTc.*760T>G (n.*760T>G)
c.1100T>G (p.Leu367Trp)
c.1097T>G (p.Leu366Trp)
c.983-9614T>G
c.1001T>G (p.Leu334Trp)
c.874T>G
c.842T>G (p.Leu281Trp)
c.259T>G
c.680T>G
c.976T>G
c.746T>G (p.Leu249Trp)
n.452T>G
n.313T>G
c.550T>G
c.447T>G
c.746T>G
c.1004T>G (p.Leu335Trp)
n.792T>G
c.674-1459T>G
2g.32126950G>ACA425446550SPASTc.*761G>A (n.*761G>A)
c.1101G>A (p.Leu367=)
c.1098G>A (p.Leu366=)
c.983-9613G>A
c.1002G>A (p.Leu334=)
c.875G>A
c.843G>A (p.Leu281=)
c.260G>A
c.681G>A
c.977G>A
c.747G>A (p.Leu249=)
n.453G>A
n.314G>A
c.551G>A
c.448G>A
c.747G>A
c.1005G>A (p.Leu335=)
n.793G>A
c.674-1458G>A
 dbSNP
2g.32126950G>CCA346501195SPASTc.*761G>C (n.*761G>C)
c.1101G>C (p.Leu367Phe)
c.1098G>C (p.Leu366Phe)
c.983-9613G>C
c.1002G>C (p.Leu334Phe)
c.875G>C
c.843G>C (p.Leu281Phe)
c.260G>C
c.681G>C
c.977G>C
c.747G>C (p.Leu249Phe)
n.453G>C
n.314G>C
c.551G>C
c.448G>C
c.747G>C
c.1005G>C (p.Leu335Phe)
n.793G>C
c.674-1458G>C
2g.32126950G=CA1242497391SPASTc.*761G= (n.*761G=)
c.1101G= (p.Leu367=)
c.1098G= (p.Leu366=)
c.983-9613G=
c.1002G= (p.Leu334=)
c.875G=
c.843G= (p.Leu281=)
c.260G=
c.681G=
c.977G=
c.747G= (p.Leu249=)
n.453G=
n.314G=
c.551G=
c.448G=
c.747G=
c.1005G= (p.Leu335=)
n.793G=
c.674-1458G=
2g.32126950G>TCA346501196SPASTc.*761G>T (n.*761G>T)
c.1101G>T (p.Leu367Phe)
c.1098G>T (p.Leu366Phe)
c.983-9613G>T
c.1002G>T (p.Leu334Phe)
c.875G>T
c.843G>T (p.Leu281Phe)
c.260G>T
c.681G>T
c.977G>T
c.747G>T (p.Leu249Phe)
n.453G>T
n.314G>T
c.551G>T
c.448G>T
c.747G>T
c.1005G>T (p.Leu335Phe)
n.793G>T
c.674-1458G>T
2g.32126951T>ACA346501197SPASTc.*762T>A (n.*762T>A)
c.1102T>A (p.Phe368Ile)
c.1099T>A (p.Phe367Ile)
c.983-9612T>A
c.1003T>A (p.Phe335Ile)
c.876T>A
c.844T>A (p.Phe282Ile)
c.261T>A
c.682T>A
c.978T>A
c.748T>A (p.Phe250Ile)
n.454T>A
n.315T>A
c.552T>A
c.449T>A
c.748T>A
c.1006T>A (p.Phe336Ile)
n.794T>A
c.674-1457T>A
2g.32126951T>CCA346501198SPASTc.*762T>C (n.*762T>C)
c.1102T>C (p.Phe368Leu)
c.1099T>C (p.Phe367Leu)
c.983-9612T>C
c.1003T>C (p.Phe335Leu)
c.876T>C
c.844T>C (p.Phe282Leu)
c.261T>C
c.682T>C
c.978T>C
c.748T>C (p.Phe250Leu)
n.454T>C
n.315T>C
c.552T>C
c.449T>C
c.748T>C
c.1006T>C (p.Phe336Leu)
n.794T>C
c.674-1457T>C
2g.32126951T>GCA346501199SPASTc.*762T>G (n.*762T>G)
c.1102T>G (p.Phe368Val)
c.1099T>G (p.Phe367Val)
c.983-9612T>G
c.1003T>G (p.Phe335Val)
c.876T>G
c.844T>G (p.Phe282Val)
c.261T>G
c.682T>G
c.978T>G
c.748T>G (p.Phe250Val)
n.454T>G
n.315T>G
c.552T>G
c.449T>G
c.748T>G
c.1006T>G (p.Phe336Val)
n.794T>G
c.674-1457T>G
2g.32126952T>ACA346501200SPASTc.*763T>A (n.*763T>A)
c.1103T>A (p.Phe368Tyr)
c.1100T>A (p.Phe367Tyr)
c.983-9611T>A
c.1004T>A (p.Phe335Tyr)
c.877T>A
c.845T>A (p.Phe282Tyr)
c.262T>A
c.683T>A
c.979T>A
c.749T>A (p.Phe250Tyr)
n.455T>A
n.316T>A
c.553T>A
c.450T>A
c.749T>A
c.1007T>A (p.Phe336Tyr)
n.795T>A
c.674-1456T>A
2g.32126952T>CCA346501201SPASTc.*763T>C (n.*763T>C)
c.1103T>C (p.Phe368Ser)
c.1100T>C (p.Phe367Ser)
c.983-9611T>C
c.1004T>C (p.Phe335Ser)
c.877T>C
c.845T>C (p.Phe282Ser)
c.262T>C
c.683T>C
c.979T>C
c.749T>C (p.Phe250Ser)
n.455T>C
n.316T>C
c.553T>C
c.450T>C
c.749T>C
c.1007T>C (p.Phe336Ser)
n.795T>C
c.674-1456T>C
 ClinVar dbSNP
2g.32126952T>GCA346501202SPASTc.*763T>G (n.*763T>G)
c.1103T>G (p.Phe368Cys)
c.1100T>G (p.Phe367Cys)
c.983-9611T>G
c.1004T>G (p.Phe335Cys)
c.877T>G
c.845T>G (p.Phe282Cys)
c.262T>G
c.683T>G
c.979T>G
c.749T>G (p.Phe250Cys)
n.455T>G
n.316T>G
c.553T>G
c.450T>G
c.749T>G
c.1007T>G (p.Phe336Cys)
n.795T>G
c.674-1456T>G
2g.32126952T=CA1242497392SPASTc.*763T= (n.*763T=)
c.1103T= (p.Phe368=)
c.1100T= (p.Phe367=)
c.983-9611T=
c.1004T= (p.Phe335=)
c.877T=
c.845T= (p.Phe282=)
c.262T=
c.683T=
c.979T=
c.749T= (p.Phe250=)
n.455T=
n.316T=
c.553T=
c.450T=
c.749T=
c.1007T= (p.Phe336=)
n.795T=
c.674-1456T=
2g.32126953C>ACA346501203SPASTc.*764C>A (n.*764C>A)
c.1104C>A (p.Phe368Leu)
c.1101C>A (p.Phe367Leu)
c.983-9610C>A
c.1005C>A (p.Phe335Leu)
c.878C>A
c.846C>A (p.Phe282Leu)
c.263C>A
c.684C>A
c.980C>A
c.750C>A (p.Phe250Leu)
n.456C>A
n.317C>A
c.554C>A
c.451C>A
c.750C>A
c.1008C>A (p.Phe336Leu)
n.796C>A
c.674-1455C>A
 gnomAD v4
2g.32126953C=CA1242497393SPASTc.*764C= (n.*764C=)
c.1104C= (p.Phe368=)
c.1101C= (p.Phe367=)
c.983-9610C=
c.1005C= (p.Phe335=)
c.878C=
c.846C= (p.Phe282=)
c.263C=
c.684C=
c.980C=
c.750C= (p.Phe250=)
n.456C=
n.317C=
c.554C=
c.451C=
c.750C=
c.1008C= (p.Phe336=)
n.796C=
c.674-1455C=
2g.32126953C>GCA346501204SPASTc.*764C>G (n.*764C>G)
c.1104C>G (p.Phe368Leu)
c.1101C>G (p.Phe367Leu)
c.983-9610C>G
c.1005C>G (p.Phe335Leu)
c.878C>G
c.846C>G (p.Phe282Leu)
c.263C>G
c.684C>G
c.980C>G
c.750C>G (p.Phe250Leu)
n.456C>G
n.317C>G
c.554C>G
c.451C>G
c.750C>G
c.1008C>G (p.Phe336Leu)
n.796C>G
c.674-1455C>G
 ClinVar dbSNP
2g.32126953C>TCA1600808SPASTc.*764C>T (n.*764C>T)
c.1104C>T (p.Phe368=)
c.1101C>T (p.Phe367=)
c.983-9610C>T
c.1005C>T (p.Phe335=)
c.878C>T
c.846C>T (p.Phe282=)
c.263C>T
c.684C>T
c.980C>T
c.750C>T (p.Phe250=)
n.456C>T
n.317C>T
c.554C>T
c.451C>T
c.750C>T
c.1008C>T (p.Phe336=)
n.796C>T
c.674-1455C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32126954A=CA1242497394SPASTc.*765A= (n.*765A=)
c.1105A= (p.Thr369=)
c.1102A= (p.Thr368=)
c.983-9609A=
c.1006A= (p.Thr336=)
c.879A=
c.847A= (p.Thr283=)
c.264A=
c.685A=
c.981A=
c.751A= (p.Thr251=)
n.457A=
n.318A=
c.555A=
c.452A=
c.751A=
c.1009A= (p.Thr337=)
n.797A=
c.674-1454A=
2g.32126954A>CCA346501207SPASTc.*765A>C (n.*765A>C)
c.1105A>C (p.Thr369Pro)
c.1102A>C (p.Thr368Pro)
c.983-9609A>C
c.1006A>C (p.Thr336Pro)
c.879A>C
c.847A>C (p.Thr283Pro)
c.264A>C
c.685A>C
c.981A>C
c.751A>C (p.Thr251Pro)
n.457A>C
n.318A>C
c.555A>C
c.452A>C
c.751A>C
c.1009A>C (p.Thr337Pro)
n.797A>C
c.674-1454A>C
 ClinVar dbSNP
2g.32126954A>GCA346501206SPASTc.*765A>G (n.*765A>G)
c.1105A>G (p.Thr369Ala)
c.1102A>G (p.Thr368Ala)
c.983-9609A>G
c.1006A>G (p.Thr336Ala)
c.879A>G
c.847A>G (p.Thr283Ala)
c.264A>G
c.685A>G
c.981A>G
c.751A>G (p.Thr251Ala)
n.457A>G
n.318A>G
c.555A>G
c.452A>G
c.751A>G
c.1009A>G (p.Thr337Ala)
n.797A>G
c.674-1454A>G
2g.32126954A>TCA346501205SPASTc.*765A>T (n.*765A>T)
c.1105A>T (p.Thr369Ser)
c.1102A>T (p.Thr368Ser)
c.983-9609A>T
c.1006A>T (p.Thr336Ser)
c.879A>T
c.847A>T (p.Thr283Ser)
c.264A>T
c.685A>T
c.981A>T
c.751A>T (p.Thr251Ser)
n.457A>T
n.318A>T
c.555A>T
c.452A>T
c.751A>T
c.1009A>T (p.Thr337Ser)
n.797A>T
c.674-1454A>T
2g.32126954dupCA2586964649SPASTc.*765dup (n.*765dup)
c.1105dup (p.Thr369AsnfsTer4)
c.1102dup (p.Thr368AsnfsTer4)
c.983-9609dup
c.1006dup (p.Thr336AsnfsTer4)
c.879dup
c.847dup (p.Thr283AsnfsTer4)
c.264dup
c.685dup
c.981dup
c.751dup (p.Thr251AsnfsTer4)
n.457dup
n.318dup
c.555dup
c.452dup
c.751dup
c.1009dup (p.Thr337AsnfsTer4)
n.797dup
c.674-1454dup
2g.32126955C>ACA346501208SPASTc.*766C>A (n.*766C>A)
c.1106C>A (p.Thr369Lys)
c.1103C>A (p.Thr368Lys)
c.983-9608C>A
c.1007C>A (p.Thr336Lys)
c.880C>A
c.848C>A (p.Thr283Lys)
c.265C>A
c.686C>A
c.982C>A
c.752C>A (p.Thr251Lys)
n.458C>A
n.319C>A
c.556C>A
c.453C>A
c.752C>A
c.1010C>A (p.Thr337Lys)
n.798C>A
c.674-1453C>A
 gnomAD v4
2g.32126955C>GCA346501209SPASTc.*766C>G (n.*766C>G)
c.1106C>G (p.Thr369Arg)
c.1103C>G (p.Thr368Arg)
c.983-9608C>G
c.1007C>G (p.Thr336Arg)
c.880C>G
c.848C>G (p.Thr283Arg)
c.265C>G
c.686C>G
c.982C>G
c.752C>G (p.Thr251Arg)
n.458C>G
n.319C>G
c.556C>G
c.453C>G
c.752C>G
c.1010C>G (p.Thr337Arg)
n.798C>G
c.674-1453C>G
2g.32126955C>TCA346501210SPASTc.*766C>T (n.*766C>T)
c.1106C>T (p.Thr369Ile)
c.1103C>T (p.Thr368Ile)
c.983-9608C>T
c.1007C>T (p.Thr336Ile)
c.880C>T
c.848C>T (p.Thr283Ile)
c.265C>T
c.686C>T
c.982C>T
c.752C>T (p.Thr251Ile)
n.458C>T
n.319C>T
c.556C>T
c.453C>T
c.752C>T
c.1010C>T (p.Thr337Ile)
n.798C>T
c.674-1453C>T
2g.32126956A=CA1242497395SPASTc.*767A= (n.*767A=)
c.1107A= (p.Thr369=)
c.1104A= (p.Thr368=)
c.983-9607A=
c.1008A= (p.Thr336=)
c.881A=
c.849A= (p.Thr283=)
c.266A=
c.687A=
c.983A=
c.753A= (p.Thr251=)
n.459A=
n.320A=
c.557A=
c.454A=
c.753A=
c.1011A= (p.Thr337=)
n.799A=
c.674-1452A=
2g.32126956A>CCA425446551SPASTc.*767A>C (n.*767A>C)
c.1107A>C (p.Thr369=)
c.1104A>C (p.Thr368=)
c.983-9607A>C
c.1008A>C (p.Thr336=)
c.881A>C
c.849A>C (p.Thr283=)
c.266A>C
c.687A>C
c.983A>C
c.753A>C (p.Thr251=)
n.459A>C
n.320A>C
c.557A>C
c.454A>C
c.753A>C
c.1011A>C (p.Thr337=)
n.799A>C
c.674-1452A>C
2g.32126956A>GCA425446552SPASTc.*767A>G (n.*767A>G)
c.1107A>G (p.Thr369=)
c.1104A>G (p.Thr368=)
c.983-9607A>G
c.1008A>G (p.Thr336=)
c.881A>G
c.849A>G (p.Thr283=)
c.266A>G
c.687A>G
c.983A>G
c.753A>G (p.Thr251=)
n.459A>G
n.320A>G
c.557A>G
c.454A>G
c.753A>G
c.1011A>G (p.Thr337=)
n.799A>G
c.674-1452A>G
 ClinVar dbSNP gnomAD v4
2g.32126956A>TCA425446553SPASTc.*767A>T (n.*767A>T)
c.1107A>T (p.Thr369=)
c.1104A>T (p.Thr368=)
c.983-9607A>T
c.1008A>T (p.Thr336=)
c.881A>T
c.849A>T (p.Thr283=)
c.266A>T
c.687A>T
c.983A>T
c.753A>T (p.Thr251=)
n.459A>T
n.320A>T
c.557A>T
c.454A>T
c.753A>T
c.1011A>T (p.Thr337=)
n.799A>T
c.674-1452A>T
2g.32126957G>ACA346501211SPASTc.*768G>A (n.*768G>A)
c.1108G>A (p.Gly370Arg)
c.1105G>A (p.Gly369Arg)
c.983-9606G>A
c.1009G>A (p.Gly337Arg)
c.882G>A
c.850G>A (p.Gly284Arg)
c.267G>A
c.688G>A
c.984G>A
c.754G>A (p.Gly252Arg)
n.460G>A
n.321G>A
c.558G>A
c.455G>A
c.754G>A
c.1012G>A (p.Gly338Arg)
n.800G>A
c.674-1451G>A
2g.32126957G>CCA346501212SPASTc.*768G>C (n.*768G>C)
c.1108G>C (p.Gly370Arg)
c.1105G>C (p.Gly369Arg)
c.983-9606G>C
c.1009G>C (p.Gly337Arg)
c.882G>C
c.850G>C (p.Gly284Arg)
c.267G>C
c.688G>C
c.984G>C
c.754G>C (p.Gly252Arg)
n.460G>C
n.321G>C
c.558G>C
c.455G>C
c.754G>C
c.1012G>C (p.Gly338Arg)
n.800G>C
c.674-1451G>C
2g.32126957G>TCA346501213SPASTc.*768G>T (n.*768G>T)
c.1108G>T (p.Gly370Trp)
c.1105G>T (p.Gly369Trp)
c.983-9606G>T
c.1009G>T (p.Gly337Trp)
c.882G>T
c.850G>T (p.Gly284Trp)
c.267G>T
c.688G>T
c.984G>T
c.754G>T (p.Gly252Trp)
n.460G>T
n.321G>T
c.558G>T
c.455G>T
c.754G>T
c.1012G>T (p.Gly338Trp)
n.800G>T
c.674-1451G>T
 ClinVar dbSNP
2g.32126958G>ACA346501214SPASTc.*769G>A (n.*769G>A)
c.1109G>A (p.Gly370Glu)
c.1106G>A (p.Gly369Glu)
c.983-9605G>A
c.1010G>A (p.Gly337Glu)
c.883G>A
c.851G>A (p.Gly284Glu)
c.268G>A
c.689G>A
c.985G>A
c.755G>A (p.Gly252Glu)
n.461G>A
n.322G>A
c.559G>A
c.456G>A
c.755G>A
c.1013G>A (p.Gly338Glu)
n.801G>A
c.674-1450G>A
 dbSNP
2g.32126958G>CCA346501215SPASTc.*769G>C (n.*769G>C)
c.1109G>C (p.Gly370Ala)
c.1106G>C (p.Gly369Ala)
c.983-9605G>C
c.1010G>C (p.Gly337Ala)
c.883G>C
c.851G>C (p.Gly284Ala)
c.268G>C
c.689G>C
c.985G>C
c.755G>C (p.Gly252Ala)
n.461G>C
n.322G>C
c.559G>C
c.456G>C
c.755G>C
c.1013G>C (p.Gly338Ala)
n.801G>C
c.674-1450G>C
2g.32126958G=CA1242497396SPASTc.*769G= (n.*769G=)
c.1109G= (p.Gly370=)
c.1106G= (p.Gly369=)
c.983-9605G=
c.1010G= (p.Gly337=)
c.883G=
c.851G= (p.Gly284=)
c.268G=
c.689G=
c.985G=
c.755G= (p.Gly252=)
n.461G=
n.322G=
c.559G=
c.456G=
c.755G=
c.1013G= (p.Gly338=)
n.801G=
c.674-1450G=
2g.32126958G>TCA346501216SPASTc.*769G>T (n.*769G>T)
c.1109G>T (p.Gly370Val)
c.1106G>T (p.Gly369Val)
c.983-9605G>T
c.1010G>T (p.Gly337Val)
c.883G>T
c.851G>T (p.Gly284Val)
c.268G>T
c.689G>T
c.985G>T
c.755G>T (p.Gly252Val)
n.461G>T
n.322G>T
c.559G>T
c.456G>T
c.755G>T
c.1013G>T (p.Gly338Val)
n.801G>T
c.674-1450G>T
2g.32126959G>ACA425446554SPASTc.*770G>A (n.*770G>A)
c.1110G>A (p.Gly370=)
c.1107G>A (p.Gly369=)
c.983-9604G>A
c.1011G>A (p.Gly337=)
c.884G>A
c.852G>A (p.Gly284=)
c.269G>A
c.690G>A
c.986G>A
c.756G>A (p.Gly252=)
n.462G>A
n.323G>A
c.560G>A
c.457G>A
c.756G>A
c.1014G>A (p.Gly338=)
n.802G>A
c.674-1449G>A
2g.32126959G>CCA425446555SPASTc.*770G>C (n.*770G>C)
c.1110G>C (p.Gly370=)
c.1107G>C (p.Gly369=)
c.983-9604G>C
c.1011G>C (p.Gly337=)
c.884G>C
c.852G>C (p.Gly284=)
c.269G>C
c.690G>C
c.986G>C
c.756G>C (p.Gly252=)
n.462G>C
n.323G>C
c.560G>C
c.457G>C
c.756G>C
c.1014G>C (p.Gly338=)
n.802G>C
c.674-1449G>C
2g.32126959G>TCA425446556SPASTc.*770G>T (n.*770G>T)
c.1110G>T (p.Gly370=)
c.1107G>T (p.Gly369=)
c.983-9604G>T
c.1011G>T (p.Gly337=)
c.884G>T
c.852G>T (p.Gly284=)
c.269G>T
c.690G>T
c.986G>T
c.756G>T (p.Gly252=)
n.462G>T
n.323G>T
c.560G>T
c.457G>T
c.756G>T
c.1014G>T (p.Gly338=)
n.802G>T
c.674-1449G>T
2g.32126960C>ACA346501217SPASTc.*771C>A (n.*771C>A)
c.1111C>A (p.Leu371Ile)
c.1108C>A (p.Leu370Ile)
c.983-9603C>A
c.1012C>A (p.Leu338Ile)
c.885C>A
c.853C>A (p.Leu285Ile)
c.270C>A
c.691C>A
c.987C>A
c.757C>A (p.Leu253Ile)
n.463C>A
n.324C>A
c.561C>A
c.458C>A
c.757C>A
c.1015C>A (p.Leu339Ile)
n.803C>A
c.674-1448C>A
 gnomAD v4
2g.32126960C=CA1242497397SPASTc.*771C= (n.*771C=)
c.1111C= (p.Leu371=)
c.1108C= (p.Leu370=)
c.983-9603C=
c.1012C= (p.Leu338=)
c.885C=
c.853C= (p.Leu285=)
c.270C=
c.691C=
c.987C=
c.757C= (p.Leu253=)
n.463C=
n.324C=
c.561C=
c.458C=
c.757C=
c.1015C= (p.Leu339=)
n.803C=
c.674-1448C=
2g.32126960C>GCA346501218SPASTc.*771C>G (n.*771C>G)
c.1111C>G (p.Leu371Val)
c.1108C>G (p.Leu370Val)
c.983-9603C>G
c.1012C>G (p.Leu338Val)
c.885C>G
c.853C>G (p.Leu285Val)
c.270C>G
c.691C>G
c.987C>G
c.757C>G (p.Leu253Val)
n.463C>G
n.324C>G
c.561C>G
c.458C>G
c.757C>G
c.1015C>G (p.Leu339Val)
n.803C>G
c.674-1448C>G
 ClinVar dbSNP
2g.32126960C>TCA16609412SPASTc.*771C>T (n.*771C>T)
c.1111C>T (p.Leu371Phe)
c.1108C>T (p.Leu370Phe)
c.983-9603C>T
c.1012C>T (p.Leu338Phe)
c.885C>T
c.853C>T (p.Leu285Phe)
c.270C>T
c.691C>T
c.987C>T
c.757C>T (p.Leu253Phe)
n.463C>T
n.324C>T
c.561C>T
c.458C>T
c.757C>T
c.1015C>T (p.Leu339Phe)
n.803C>T
c.674-1448C>T
 ClinVar dbSNP
2g.32126961T>ACA346501221SPASTc.*772T>A (n.*772T>A)
c.1112T>A (p.Leu371His)
c.1109T>A (p.Leu370His)
c.983-9602T>A
c.1013T>A (p.Leu338His)
c.886T>A
c.854T>A (p.Leu285His)
c.271T>A
c.692T>A
c.988T>A
c.758T>A (p.Leu253His)
n.464T>A
n.325T>A
c.562T>A
c.459T>A
c.758T>A
c.1016T>A (p.Leu339His)
n.804T>A
c.674-1447T>A
2g.32126961T>CCA346501220SPASTc.*772T>C (n.*772T>C)
c.1112T>C (p.Leu371Pro)
c.1109T>C (p.Leu370Pro)
c.983-9602T>C
c.1013T>C (p.Leu338Pro)
c.886T>C
c.854T>C (p.Leu285Pro)
c.271T>C
c.692T>C
c.988T>C
c.758T>C (p.Leu253Pro)
n.464T>C
n.325T>C
c.562T>C
c.459T>C
c.758T>C
c.1016T>C (p.Leu339Pro)
n.804T>C
c.674-1447T>C
 ClinVar
2g.32126961T>GCA346501219SPASTc.*772T>G (n.*772T>G)
c.1112T>G (p.Leu371Arg)
c.1109T>G (p.Leu370Arg)
c.983-9602T>G
c.1013T>G (p.Leu338Arg)
c.886T>G
c.854T>G (p.Leu285Arg)
c.271T>G
c.692T>G
c.988T>G
c.758T>G (p.Leu253Arg)
n.464T>G
n.325T>G
c.562T>G
c.459T>G
c.758T>G
c.1016T>G (p.Leu339Arg)
n.804T>G
c.674-1447T>G
 ClinVar dbSNP
2g.32126961T=CA1242497398SPASTc.*772T= (n.*772T=)
c.1112T= (p.Leu371=)
c.1109T= (p.Leu370=)
c.983-9602T=
c.1013T= (p.Leu338=)
c.886T=
c.854T= (p.Leu285=)
c.271T=
c.692T=
c.988T=
c.758T= (p.Leu253=)
n.464T=
n.325T=
c.562T=
c.459T=
c.758T=
c.1016T= (p.Leu339=)
n.804T=
c.674-1447T=
2g.32126962T>ACA425446557SPASTc.*773T>A (n.*773T>A)
c.1113T>A (p.Leu371=)
c.1110T>A (p.Leu370=)
c.983-9601T>A
c.1014T>A (p.Leu338=)
c.887T>A
c.855T>A (p.Leu285=)
c.272T>A
c.693T>A
c.989T>A
c.759T>A (p.Leu253=)
n.465T>A
n.326T>A
c.563T>A
c.460T>A
c.759T>A
c.1017T>A (p.Leu339=)
n.805T>A
c.674-1446T>A
2g.32126962T>CCA425446558SPASTc.*773T>C (n.*773T>C)
c.1113T>C (p.Leu371=)
c.1110T>C (p.Leu370=)
c.983-9601T>C
c.1014T>C (p.Leu338=)
c.887T>C
c.855T>C (p.Leu285=)
c.272T>C
c.693T>C
c.989T>C
c.759T>C (p.Leu253=)
n.465T>C
n.326T>C
c.563T>C
c.460T>C
c.759T>C
c.1017T>C (p.Leu339=)
n.805T>C
c.674-1446T>C
2g.32126962T>GCA425446559SPASTc.*773T>G (n.*773T>G)
c.1113T>G (p.Leu371=)
c.1110T>G (p.Leu370=)
c.983-9601T>G
c.1014T>G (p.Leu338=)
c.887T>G
c.855T>G (p.Leu285=)
c.272T>G
c.693T>G
c.989T>G
c.759T>G (p.Leu253=)
n.465T>G
n.326T>G
c.563T>G
c.460T>G
c.759T>G
c.1017T>G (p.Leu339=)
n.805T>G
c.674-1446T>G
2g.32126963A=CA1242497399SPASTc.*774A= (n.*774A=)
c.1114A= (p.Arg372=)
c.1111A= (p.Arg371=)
c.983-9600A=
c.1015A= (p.Arg339=)
c.888A=
c.856A= (p.Arg286=)
c.273A=
c.694A=
c.990A=
c.760A= (p.Arg254=)
n.466A=
n.327A=
c.564A=
c.461A=
c.760A=
c.1018A= (p.Arg340=)
n.806A=
c.674-1445A=
2g.32126963A>CCA425446560SPASTc.*774A>C (n.*774A>C)
c.1114A>C (p.Arg372=)
c.1111A>C (p.Arg371=)
c.983-9600A>C
c.1015A>C (p.Arg339=)
c.888A>C
c.856A>C (p.Arg286=)
c.273A>C
c.694A>C
c.990A>C
c.760A>C (p.Arg254=)
n.466A>C
n.327A>C
c.564A>C
c.461A>C
c.760A>C
c.1018A>C (p.Arg340=)
n.806A>C
c.674-1445A>C
2g.32126963A>GCA346501222SPASTc.*774A>G (n.*774A>G)
c.1114A>G (p.Arg372Gly)
c.1111A>G (p.Arg371Gly)
c.983-9600A>G
c.1015A>G (p.Arg339Gly)
c.888A>G
c.856A>G (p.Arg286Gly)
c.273A>G
c.694A>G
c.990A>G
c.760A>G (p.Arg254Gly)
n.466A>G
n.327A>G
c.564A>G
c.461A>G
c.760A>G
c.1018A>G (p.Arg340Gly)
n.806A>G
c.674-1445A>G
 dbSNP gnomAD v4
2g.32126963A>TCA346501223SPASTc.*774A>T (n.*774A>T)
c.1114A>T (p.Arg372Ter)
c.1111A>T (p.Arg371Ter)
c.983-9600A>T
c.1015A>T (p.Arg339Ter)
c.888A>T
c.856A>T (p.Arg286Ter)
c.273A>T
c.694A>T
c.990A>T
c.760A>T (p.Arg254Ter)
n.466A>T
n.327A>T
c.564A>T
c.461A>T
c.760A>T
c.1018A>T (p.Arg340Ter)
n.806A>T
c.674-1445A>T
 dbSNP
2g.32126964delCA2586964656SPASTc.*775del (n.*775del)
c.1115del (p.Arg372LysfsTer24)
c.1112del (p.Arg371LysfsTer24)
c.983-9599del
c.1016del (p.Arg339LysfsTer24)
c.889del
c.857del (p.Arg286LysfsTer24)
c.274del
c.695del
c.991del
c.761del (p.Arg254LysfsTer24)
n.467del
n.328del
c.565del
c.462del
c.761del
c.1019del (p.Arg340LysfsTer24)
n.807del
c.674-1444del
 ClinVar
2g.32126964G>ACA346501224SPASTc.*775G>A (n.*775G>A)
c.1115G>A (p.Arg372Lys)
c.1112G>A (p.Arg371Lys)
c.983-9599G>A
c.1016G>A (p.Arg339Lys)
c.889G>A
c.857G>A (p.Arg286Lys)
c.274G>A
c.695G>A
c.991G>A
c.761G>A (p.Arg254Lys)
n.467G>A
n.328G>A
c.565G>A
c.462G>A
c.761G>A
c.1019G>A (p.Arg340Lys)
n.807G>A
c.674-1444G>A
2g.32126964G>CCA346501225SPASTc.*775G>C (n.*775G>C)
c.1115G>C (p.Arg372Thr)
c.1112G>C (p.Arg371Thr)
c.983-9599G>C
c.1016G>C (p.Arg339Thr)
c.889G>C
c.857G>C (p.Arg286Thr)
c.274G>C
c.695G>C
c.991G>C
c.761G>C (p.Arg254Thr)
n.467G>C
n.328G>C
c.565G>C
c.462G>C
c.761G>C
c.1019G>C (p.Arg340Thr)
n.807G>C
c.674-1444G>C
 gnomAD v4
2g.32126964G=CA1242497400SPASTc.*775G= (n.*775G=)
c.1115G= (p.Arg372=)
c.1112G= (p.Arg371=)
c.983-9599G=
c.1016G= (p.Arg339=)
c.889G=
c.857G= (p.Arg286=)
c.274G=
c.695G=
c.991G=
c.761G= (p.Arg254=)
n.467G=
n.328G=
c.565G=
c.462G=
c.761G=
c.1019G= (p.Arg340=)
n.807G=
c.674-1444G=
2g.32126964G>TCA348091SPASTc.*775G>T (n.*775G>T)
c.1115G>T (p.Arg372Ile)
c.1112G>T (p.Arg371Ile)
c.983-9599G>T
c.1016G>T (p.Arg339Ile)
c.889G>T
c.857G>T (p.Arg286Ile)
c.274G>T
c.695G>T
c.991G>T
c.761G>T (p.Arg254Ile)
n.467G>T
n.328G>T
c.565G>T
c.462G>T
c.761G>T
c.1019G>T (p.Arg340Ile)
n.807G>T
c.674-1444G>T
 ClinVar dbSNP
2g.32126964dupCA2586964655SPASTc.*775dup (n.*775dup)
c.1115dup (p.Ala373SerfsTer21)
c.1112dup (p.Ala372SerfsTer21)
c.983-9599dup
c.1016dup (p.Ala340SerfsTer21)
c.889dup
c.857dup (p.Ala287SerfsTer21)
c.274dup
c.695dup
c.991dup
c.761dup (p.Ala255SerfsTer21)
n.467dup
n.328dup
c.565dup
c.462dup
c.761dup
c.1019dup (p.Ala341SerfsTer21)
n.807dup
c.674-1444dup
2g.32126965A=CA1242497402SPASTc.*776A= (n.*776A=)
c.1116A= (p.Arg372=)
c.1113A= (p.Arg371=)
c.983-9598A=
c.1017A= (p.Arg339=)
c.890A=
c.858A= (p.Arg286=)
c.275A=
c.696A=
c.992A=
c.762A= (p.Arg254=)
n.468A=
n.329A=
c.566A=
c.463A=
c.762A=
c.1020A= (p.Arg340=)
n.808A=
c.674-1443A=
2g.32126965A>CCA346501226SPASTc.*776A>C (n.*776A>C)
c.1116A>C (p.Arg372Ser)
c.1113A>C (p.Arg371Ser)
c.983-9598A>C
c.1017A>C (p.Arg339Ser)
c.890A>C
c.858A>C (p.Arg286Ser)
c.275A>C
c.696A>C
c.992A>C
c.762A>C (p.Arg254Ser)
n.468A>C
n.329A>C
c.566A>C
c.463A>C
c.762A>C
c.1020A>C (p.Arg340Ser)
n.808A>C
c.674-1443A>C
 ClinVar dbSNP
2g.32126965A>GCA425446562SPASTc.*776A>G (n.*776A>G)
c.1116A>G (p.Arg372=)
c.1113A>G (p.Arg371=)
c.983-9598A>G
c.1017A>G (p.Arg339=)
c.890A>G
c.858A>G (p.Arg286=)
c.275A>G
c.696A>G
c.992A>G
c.762A>G (p.Arg254=)
n.468A>G
n.329A>G
c.566A>G
c.463A>G
c.762A>G
c.1020A>G (p.Arg340=)
n.808A>G
c.674-1443A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32126965A>TCA346501227SPASTc.*776A>T (n.*776A>T)
c.1116A>T (p.Arg372Ser)
c.1113A>T (p.Arg371Ser)
c.983-9598A>T
c.1017A>T (p.Arg339Ser)
c.890A>T
c.858A>T (p.Arg286Ser)
c.275A>T
c.696A>T
c.992A>T
c.762A>T (p.Arg254Ser)
n.468A>T
n.329A>T
c.566A>T
c.463A>T
c.762A>T
c.1020A>T (p.Arg340Ser)
n.808A>T
c.674-1443A>T
2g.32126965_32126966delinsAGCA1242497401SPASTc.*776_*777delinsAG (n.*776_*777delinsAG)
c.1116_1117delinsAG (p.Arg372=)
c.1113_1114delinsAG (p.Arg371=)
c.983-9598_983-9597delinsAG
c.1017_1018delinsAG (p.Arg339=)
c.890_891delinsAG
c.858_859delinsAG (p.Arg286=)
c.275_276delinsAG
c.696_697delinsAG
c.992_993delinsAG
c.762_763delinsAG (p.Arg254=)
n.468_469delinsAG
n.329_330delinsAG
c.566_567delinsAG
c.463_464delinsAG
c.762_763delinsAG
c.1020_1021delinsAG (p.Arg340=)
n.808_809delinsAG
c.674-1443_674-1442delinsAG
2g.32126966delCA16043391SPASTc.*777del (n.*777del)
c.1117del (p.Ala373LeufsTer23)
c.1114del (p.Ala372LeufsTer23)
c.983-9597del
c.1018del (p.Ala340LeufsTer23)
c.891del
c.859del (p.Ala287LeufsTer23)
c.276del
c.697del
c.993del
c.763del (p.Ala255LeufsTer23)
n.469del
n.330del
c.567del
c.464del
c.763del
c.1021del (p.Ala341LeufsTer23)
n.809del
c.674-1442del
 ClinVar dbSNP
2g.32126966G>ACA346501228SPASTc.*777G>A (n.*777G>A)
c.1117G>A (p.Ala373Thr)
c.1114G>A (p.Ala372Thr)
c.983-9597G>A
c.1018G>A (p.Ala340Thr)
c.891G>A
c.859G>A (p.Ala287Thr)
c.276G>A
c.697G>A
c.993G>A
c.763G>A (p.Ala255Thr)
n.469G>A
n.330G>A
c.567G>A
c.464G>A
c.763G>A
c.1021G>A (p.Ala341Thr)
n.809G>A
c.674-1442G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32126966G>CCA346501229SPASTc.*777G>C (n.*777G>C)
c.1117G>C (p.Ala373Pro)
c.1114G>C (p.Ala372Pro)
c.983-9597G>C
c.1018G>C (p.Ala340Pro)
c.891G>C
c.859G>C (p.Ala287Pro)
c.276G>C
c.697G>C
c.993G>C
c.763G>C (p.Ala255Pro)
n.469G>C
n.330G>C
c.567G>C
c.464G>C
c.763G>C
c.1021G>C (p.Ala341Pro)
n.809G>C
c.674-1442G>C
 ClinVar dbSNP
2g.32126966G=CA1242497403SPASTc.*777G= (n.*777G=)
c.1117G= (p.Ala373=)
c.1114G= (p.Ala372=)
c.983-9597G=
c.1018G= (p.Ala340=)
c.891G=
c.859G= (p.Ala287=)
c.276G=
c.697G=
c.993G=
c.763G= (p.Ala255=)
n.469G=
n.330G=
c.567G=
c.464G=
c.763G=
c.1021G= (p.Ala341=)
n.809G=
c.674-1442G=
2g.32126966G>TCA346501230SPASTc.*777G>T (n.*777G>T)
c.1117G>T (p.Ala373Ser)
c.1114G>T (p.Ala372Ser)
c.983-9597G>T
c.1018G>T (p.Ala340Ser)
c.891G>T
c.859G>T (p.Ala287Ser)
c.276G>T
c.697G>T
c.993G>T
c.763G>T (p.Ala255Ser)
n.469G>T
n.330G>T
c.567G>T
c.464G>T
c.763G>T
c.1021G>T (p.Ala341Ser)
n.809G>T
c.674-1442G>T
2g.32126967delCA2499215903SPASTc.*778del (n.*778del)
c.1118del (p.Ala373ValfsTer23)
c.1115del (p.Ala372ValfsTer23)
c.983-9596del
c.1019del (p.Ala340ValfsTer23)
c.892del
c.860del (p.Ala287ValfsTer23)
c.277del
c.698del
c.994del
c.764del (p.Ala255ValfsTer23)
n.470del
n.331del
c.568del
c.465del
c.764del
c.1022del (p.Ala341ValfsTer23)
n.810del
c.674-1441del
 ClinVar dbSNP
2g.32126967C>ACA346501231SPASTc.*778C>A (n.*778C>A)
c.1118C>A (p.Ala373Asp)
c.1115C>A (p.Ala372Asp)
c.983-9596C>A
c.1019C>A (p.Ala340Asp)
c.892C>A
c.860C>A (p.Ala287Asp)
c.277C>A
c.698C>A
c.994C>A
c.764C>A (p.Ala255Asp)
n.470C>A
n.331C>A
c.568C>A
c.465C>A
c.764C>A
c.1022C>A (p.Ala341Asp)
n.810C>A
c.674-1441C>A
2g.32126967C>GCA346501232SPASTc.*778C>G (n.*778C>G)
c.1118C>G (p.Ala373Gly)
c.1115C>G (p.Ala372Gly)
c.983-9596C>G
c.1019C>G (p.Ala340Gly)
c.892C>G
c.860C>G (p.Ala287Gly)
c.277C>G
c.698C>G
c.994C>G
c.764C>G (p.Ala255Gly)
n.470C>G
n.331C>G
c.568C>G
c.465C>G
c.764C>G
c.1022C>G (p.Ala341Gly)
n.810C>G
c.674-1441C>G
2g.32126967C>TCA346501233SPASTc.*778C>T (n.*778C>T)
c.1118C>T (p.Ala373Val)
c.1115C>T (p.Ala372Val)
c.983-9596C>T
c.1019C>T (p.Ala340Val)
c.892C>T
c.860C>T (p.Ala287Val)
c.277C>T
c.698C>T
c.994C>T
c.764C>T (p.Ala255Val)
n.470C>T
n.331C>T
c.568C>T
c.465C>T
c.764C>T
c.1022C>T (p.Ala341Val)
n.810C>T
c.674-1441C>T
2g.32126968T>ACA425446565SPASTc.*779T>A (n.*779T>A)
c.1119T>A (p.Ala373=)
c.1116T>A (p.Ala372=)
c.983-9595T>A
c.1020T>A (p.Ala340=)
c.893T>A
c.861T>A (p.Ala287=)
c.278T>A
c.699T>A
c.995T>A
c.765T>A (p.Ala255=)
n.471T>A
n.332T>A
c.569T>A
c.466T>A
c.765T>A
c.1023T>A (p.Ala341=)
n.811T>A
c.674-1440T>A
2g.32126968T>CCA425446566SPASTc.*779T>C (n.*779T>C)
c.1119T>C (p.Ala373=)
c.1116T>C (p.Ala372=)
c.983-9595T>C
c.1020T>C (p.Ala340=)
c.893T>C
c.861T>C (p.Ala287=)
c.278T>C
c.699T>C
c.995T>C
c.765T>C (p.Ala255=)
n.471T>C
n.332T>C
c.569T>C
c.466T>C
c.765T>C
c.1023T>C (p.Ala341=)
n.811T>C
c.674-1440T>C
 ClinVar
2g.32126968T>GCA425446567SPASTc.*779T>G (n.*779T>G)
c.1119T>G (p.Ala373=)
c.1116T>G (p.Ala372=)
c.983-9595T>G
c.1020T>G (p.Ala340=)
c.893T>G
c.861T>G (p.Ala287=)
c.278T>G
c.699T>G
c.995T>G
c.765T>G (p.Ala255=)
n.471T>G
n.332T>G
c.569T>G
c.466T>G
c.765T>G
c.1023T>G (p.Ala341=)
n.811T>G
c.674-1440T>G
2g.32126969C>ACA346501234SPASTc.*780C>A (n.*780C>A)
c.1120C>A (p.Pro374Thr)
c.1117C>A (p.Pro373Thr)
c.983-9594C>A
c.1021C>A (p.Pro341Thr)
c.894C>A
c.862C>A (p.Pro288Thr)
c.279C>A
c.700C>A
c.996C>A
c.766C>A (p.Pro256Thr)
n.472C>A
n.333C>A
c.570C>A
c.467C>A
c.766C>A
c.1024C>A (p.Pro342Thr)
n.812C>A
c.674-1439C>A
 dbSNP gnomAD v4
2g.32126969C=CA1242497404SPASTc.*780C= (n.*780C=)
c.1120C= (p.Pro374=)
c.1117C= (p.Pro373=)
c.983-9594C=
c.1021C= (p.Pro341=)
c.894C=
c.862C= (p.Pro288=)
c.279C=
c.700C=
c.996C=
c.766C= (p.Pro256=)
n.472C=
n.333C=
c.570C=
c.467C=
c.766C=
c.1024C= (p.Pro342=)
n.812C=
c.674-1439C=
2g.32126969C>GCA346501235SPASTc.*780C>G (n.*780C>G)
c.1120C>G (p.Pro374Ala)
c.1117C>G (p.Pro373Ala)
c.983-9594C>G
c.1021C>G (p.Pro341Ala)
c.894C>G
c.862C>G (p.Pro288Ala)
c.279C>G
c.700C>G
c.996C>G
c.766C>G (p.Pro256Ala)
n.472C>G
n.333C>G
c.570C>G
c.467C>G
c.766C>G
c.1024C>G (p.Pro342Ala)
n.812C>G
c.674-1439C>G
2g.32126969C>TCA346501236SPASTc.*780C>T (n.*780C>T)
c.1120C>T (p.Pro374Ser)
c.1117C>T (p.Pro373Ser)
c.983-9594C>T
c.1021C>T (p.Pro341Ser)
c.894C>T
c.862C>T (p.Pro288Ser)
c.279C>T
c.700C>T
c.996C>T
c.766C>T (p.Pro256Ser)
n.472C>T
n.333C>T
c.570C>T
c.467C>T
c.766C>T
c.1024C>T (p.Pro342Ser)
n.812C>T
c.674-1439C>T
 ClinVar dbSNP
2g.32126970C>ACA346501239SPASTc.*781C>A (n.*781C>A)
c.1121C>A (p.Pro374His)
c.1118C>A (p.Pro373His)
c.983-9593C>A
c.1022C>A (p.Pro341His)
c.895C>A
c.863C>A (p.Pro288His)
c.280C>A
c.701C>A
c.997C>A
c.767C>A (p.Pro256His)
n.473C>A
n.334C>A
c.571C>A
c.468C>A
c.767C>A
c.1025C>A (p.Pro342His)
n.813C>A
c.674-1438C>A
2g.32126970C=CA1242497405SPASTc.*781C= (n.*781C=)
c.1121C= (p.Pro374=)
c.1118C= (p.Pro373=)
c.983-9593C=
c.1022C= (p.Pro341=)
c.895C=
c.863C= (p.Pro288=)
c.280C=
c.701C=
c.997C=
c.767C= (p.Pro256=)
n.473C=
n.334C=
c.571C=
c.468C=
c.767C=
c.1025C= (p.Pro342=)
n.813C=
c.674-1438C=
2g.32126970C>GCA346501237SPASTc.*781C>G (n.*781C>G)
c.1121C>G (p.Pro374Arg)
c.1118C>G (p.Pro373Arg)
c.983-9593C>G
c.1022C>G (p.Pro341Arg)
c.895C>G
c.863C>G (p.Pro288Arg)
c.280C>G
c.701C>G
c.997C>G
c.767C>G (p.Pro256Arg)
n.473C>G
n.334C>G
c.571C>G
c.468C>G
c.767C>G
c.1025C>G (p.Pro342Arg)
n.813C>G
c.674-1438C>G
 dbSNP
2g.32126970C>TCA346501238SPASTc.*781C>T (n.*781C>T)
c.1121C>T (p.Pro374Leu)
c.1118C>T (p.Pro373Leu)
c.983-9593C>T
c.1022C>T (p.Pro341Leu)
c.895C>T
c.863C>T (p.Pro288Leu)
c.280C>T
c.701C>T
c.997C>T
c.767C>T (p.Pro256Leu)
n.473C>T
n.334C>T
c.571C>T
c.468C>T
c.767C>T
c.1025C>T (p.Pro342Leu)
n.813C>T
c.674-1438C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.32126971T>ACA425446569SPASTc.*782T>A (n.*782T>A)
c.1122T>A (p.Pro374=)
c.1119T>A (p.Pro373=)
c.983-9592T>A
c.1023T>A (p.Pro341=)
c.896T>A
c.864T>A (p.Pro288=)
c.281T>A
c.702T>A
c.998T>A
c.768T>A (p.Pro256=)
n.474T>A
n.335T>A
c.572T>A
c.469T>A
c.768T>A
c.1026T>A (p.Pro342=)
n.814T>A
c.674-1437T>A
2g.32126971T>CCA425446571SPASTc.*782T>C (n.*782T>C)
c.1122T>C (p.Pro374=)
c.1119T>C (p.Pro373=)
c.983-9592T>C
c.1023T>C (p.Pro341=)
c.896T>C
c.864T>C (p.Pro288=)
c.281T>C
c.702T>C
c.998T>C
c.768T>C (p.Pro256=)
n.474T>C
n.335T>C
c.572T>C
c.469T>C
c.768T>C
c.1026T>C (p.Pro342=)
n.814T>C
c.674-1437T>C
2g.32126971T>GCA425446573SPASTc.*782T>G (n.*782T>G)
c.1122T>G (p.Pro374=)
c.1119T>G (p.Pro373=)
c.983-9592T>G
c.1023T>G (p.Pro341=)
c.896T>G
c.864T>G (p.Pro288=)
c.281T>G
c.702T>G
c.998T>G
c.768T>G (p.Pro256=)
n.474T>G
n.335T>G
c.572T>G
c.469T>G
c.768T>G
c.1026T>G (p.Pro342=)
n.814T>G
c.674-1437T>G
2g.32126972G>ACA346501240SPASTc.*783G>A (n.*783G>A)
c.1123G>A (p.Ala375Thr)
c.1120G>A (p.Ala374Thr)
c.983-9591G>A
c.1024G>A (p.Ala342Thr)
c.897G>A
c.865G>A (p.Ala289Thr)
c.282G>A
c.703G>A
c.999G>A
c.769G>A (p.Ala257Thr)
n.475G>A
n.336G>A
c.573G>A
c.470G>A
c.769G>A
c.1027G>A (p.Ala343Thr)
n.815G>A
c.674-1436G>A
 gnomAD v4
2g.32126972G>CCA346501241SPASTc.*783G>C (n.*783G>C)
c.1123G>C (p.Ala375Pro)
c.1120G>C (p.Ala374Pro)
c.983-9591G>C
c.1024G>C (p.Ala342Pro)
c.897G>C
c.865G>C (p.Ala289Pro)
c.282G>C
c.703G>C
c.999G>C
c.769G>C (p.Ala257Pro)
n.475G>C
n.336G>C
c.573G>C
c.470G>C
c.769G>C
c.1027G>C (p.Ala343Pro)
n.815G>C
c.674-1436G>C
2g.32126972G>TCA346501242SPASTc.*783G>T (n.*783G>T)
c.1123G>T (p.Ala375Ser)
c.1120G>T (p.Ala374Ser)
c.983-9591G>T
c.1024G>T (p.Ala342Ser)
c.897G>T
c.865G>T (p.Ala289Ser)
c.282G>T
c.703G>T
c.999G>T
c.769G>T (p.Ala257Ser)
n.475G>T
n.336G>T
c.573G>T
c.470G>T
c.769G>T
c.1027G>T (p.Ala343Ser)
n.815G>T
c.674-1436G>T
2g.32126973C>ACA346501243SPASTc.*784C>A (n.*784C>A)
c.1124C>A (p.Ala375Asp)
c.1121C>A (p.Ala374Asp)
c.983-9590C>A
c.1025C>A (p.Ala342Asp)
c.898C>A
c.866C>A (p.Ala289Asp)
c.283C>A
c.704C>A
c.1000C>A
c.770C>A (p.Ala257Asp)
n.476C>A
n.337C>A
c.574C>A
c.471C>A
c.770C>A
c.1028C>A (p.Ala343Asp)
n.816C>A
c.674-1435C>A
2g.32126973C>GCA346501244SPASTc.*784C>G (n.*784C>G)
c.1124C>G (p.Ala375Gly)
c.1121C>G (p.Ala374Gly)
c.983-9590C>G
c.1025C>G (p.Ala342Gly)
c.898C>G
c.866C>G (p.Ala289Gly)
c.283C>G
c.704C>G
c.1000C>G
c.770C>G (p.Ala257Gly)
n.476C>G
n.337C>G
c.574C>G
c.471C>G
c.770C>G
c.1028C>G (p.Ala343Gly)
n.816C>G
c.674-1435C>G
2g.32126973C>TCA346501245SPASTc.*784C>T (n.*784C>T)
c.1124C>T (p.Ala375Val)
c.1121C>T (p.Ala374Val)
c.983-9590C>T
c.1025C>T (p.Ala342Val)
c.898C>T
c.866C>T (p.Ala289Val)
c.283C>T
c.704C>T
c.1000C>T
c.770C>T (p.Ala257Val)
n.476C>T
n.337C>T
c.574C>T
c.471C>T
c.770C>T
c.1028C>T (p.Ala343Val)
n.816C>T
c.674-1435C>T
2g.32126974C>ACA44741609SPASTc.*785C>A (n.*785C>A)
c.1125C>A (p.Ala375=)
c.1122C>A (p.Ala374=)
c.983-9589C>A
c.1026C>A (p.Ala342=)
c.899C>A
c.867C>A (p.Ala289=)
c.284C>A
c.705C>A
c.1001C>A
c.771C>A (p.Ala257=)
n.477C>A
n.338C>A
c.575C>A
c.472C>A
c.771C>A
c.1029C>A (p.Ala343=)
n.817C>A
c.674-1434C>A
 dbSNP
2g.32126974C=CA1242497406SPASTc.*785C= (n.*785C=)
c.1125C= (p.Ala375=)
c.1122C= (p.Ala374=)
c.983-9589C=
c.1026C= (p.Ala342=)
c.899C=
c.867C= (p.Ala289=)
c.284C=
c.705C=
c.1001C=
c.771C= (p.Ala257=)
n.477C=
n.338C=
c.575C=
c.472C=
c.771C=
c.1029C= (p.Ala343=)
n.817C=
c.674-1434C=
2g.32126974C>GCA425446575SPASTc.*785C>G (n.*785C>G)
c.1125C>G (p.Ala375=)
c.1122C>G (p.Ala374=)
c.983-9589C>G
c.1026C>G (p.Ala342=)
c.899C>G
c.867C>G (p.Ala289=)
c.284C>G
c.705C>G
c.1001C>G
c.771C>G (p.Ala257=)
n.477C>G
n.338C>G
c.575C>G
c.472C>G
c.771C>G
c.1029C>G (p.Ala343=)
n.817C>G
c.674-1434C>G
2g.32126974C>TCA425446576SPASTc.*785C>T (n.*785C>T)
c.1125C>T (p.Ala375=)
c.1122C>T (p.Ala374=)
c.983-9589C>T
c.1026C>T (p.Ala342=)
c.899C>T
c.867C>T (p.Ala289=)
c.284C>T
c.705C>T
c.1001C>T
c.771C>T (p.Ala257=)
n.477C>T
n.338C>T
c.575C>T
c.472C>T
c.771C>T
c.1029C>T (p.Ala343=)
n.817C>T
c.674-1434C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32126975A>CCA425446577SPASTc.*786A>C (n.*786A>C)
c.1126A>C (p.Arg376=)
c.1123A>C (p.Arg375=)
c.983-9588A>C
c.1027A>C (p.Arg343=)
c.900A>C
c.868A>C (p.Arg290=)
c.285A>C
c.706A>C
c.1002A>C
c.772A>C (p.Arg258=)
n.478A>C
n.339A>C
c.576A>C
c.473A>C
c.772A>C
c.1030A>C (p.Arg344=)
n.818A>C
c.674-1433A>C
2g.32126975A>GCA346501246SPASTc.*786A>G (n.*786A>G)
c.1126A>G (p.Arg376Gly)
c.1123A>G (p.Arg375Gly)
c.983-9588A>G
c.1027A>G (p.Arg343Gly)
c.900A>G
c.868A>G (p.Arg290Gly)
c.285A>G
c.706A>G
c.1002A>G
c.772A>G (p.Arg258Gly)
n.478A>G
n.339A>G
c.576A>G
c.473A>G
c.772A>G
c.1030A>G (p.Arg344Gly)
n.818A>G
c.674-1433A>G
 COSMIC
2g.32126975A>TCA346501247SPASTc.*786A>T (n.*786A>T)
c.1126A>T (p.Arg376Ter)
c.1123A>T (p.Arg375Ter)
c.983-9588A>T
c.1027A>T (p.Arg343Ter)
c.900A>T
c.868A>T (p.Arg290Ter)
c.285A>T
c.706A>T
c.1002A>T
c.772A>T (p.Arg258Ter)
n.478A>T
n.339A>T
c.576A>T
c.473A>T
c.772A>T
c.1030A>T (p.Arg344Ter)
n.818A>T
c.674-1433A>T
2g.32126976G>ACA346501248SPASTc.*787G>A (n.*787G>A)
c.1127G>A (p.Arg376Lys)
c.1124G>A (p.Arg375Lys)
c.983-9587G>A
c.1028G>A (p.Arg343Lys)
c.901G>A
c.869G>A (p.Arg290Lys)
c.286G>A
c.707G>A
c.1003G>A
c.773G>A (p.Arg258Lys)
n.479G>A
n.340G>A
c.577G>A
c.474G>A
c.773G>A
c.1031G>A (p.Arg344Lys)
n.819G>A
c.674-1432G>A
2g.32126976G>CCA346501249SPASTc.*787G>C (n.*787G>C)
c.1127G>C (p.Arg376Thr)
c.1124G>C (p.Arg375Thr)
c.983-9587G>C
c.1028G>C (p.Arg343Thr)
c.901G>C
c.869G>C (p.Arg290Thr)
c.286G>C
c.707G>C
c.1003G>C
c.773G>C (p.Arg258Thr)
n.479G>C
n.340G>C
c.577G>C
c.474G>C
c.773G>C
c.1031G>C (p.Arg344Thr)
n.819G>C
c.674-1432G>C
2g.32126976G>TCA346501250SPASTc.*787G>T (n.*787G>T)
c.1127G>T (p.Arg376Ile)
c.1124G>T (p.Arg375Ile)
c.983-9587G>T
c.1028G>T (p.Arg343Ile)
c.901G>T
c.869G>T (p.Arg290Ile)
c.286G>T
c.707G>T
c.1003G>T
c.773G>T (p.Arg258Ile)
n.479G>T
n.340G>T
c.577G>T
c.474G>T
c.773G>T
c.1031G>T (p.Arg344Ile)
n.819G>T
c.674-1432G>T
2g.32126977A>CCA346501251SPASTc.*788A>C (n.*788A>C)
c.1128A>C (p.Arg376Ser)
c.1125A>C (p.Arg375Ser)
c.983-9586A>C
c.1029A>C (p.Arg343Ser)
c.902A>C
c.870A>C (p.Arg290Ser)
c.287A>C
c.708A>C
c.1004A>C
c.774A>C (p.Arg258Ser)
n.480A>C
n.341A>C
c.578A>C
c.475A>C
c.774A>C
c.1032A>C (p.Arg344Ser)
n.820A>C
c.674-1431A>C
2g.32126977A>GCA425446581SPASTc.*788A>G (n.*788A>G)
c.1128A>G (p.Arg376=)
c.1125A>G (p.Arg375=)
c.983-9586A>G
c.1029A>G (p.Arg343=)
c.902A>G
c.870A>G (p.Arg290=)
c.287A>G
c.708A>G
c.1004A>G
c.774A>G (p.Arg258=)
n.480A>G
n.341A>G
c.578A>G
c.475A>G
c.774A>G
c.1032A>G (p.Arg344=)
n.820A>G
c.674-1431A>G
2g.32126977A>TCA346501252SPASTc.*788A>T (n.*788A>T)
c.1128A>T (p.Arg376Ser)
c.1125A>T (p.Arg375Ser)
c.983-9586A>T
c.1029A>T (p.Arg343Ser)
c.902A>T
c.870A>T (p.Arg290Ser)
c.287A>T
c.708A>T
c.1004A>T
c.774A>T (p.Arg258Ser)
n.480A>T
n.341A>T
c.578A>T
c.475A>T
c.774A>T
c.1032A>T (p.Arg344Ser)
n.820A>T
c.674-1431A>T
2g.32126978G>ACA346501253SPASTc.*789G>A (n.*789G>A)
c.1129G>A (p.Gly377Arg)
c.1126G>A (p.Gly376Arg)
c.983-9585G>A
c.1030G>A (p.Gly344Arg)
c.903G>A
c.871G>A (p.Gly291Arg)
c.288G>A
c.709G>A
c.1005G>A
c.775G>A (p.Gly259Arg)
n.481G>A
n.342G>A
c.579G>A
c.476G>A
c.775G>A
c.1033G>A (p.Gly345Arg)
n.821G>A
c.674-1430G>A
2g.32126978G>CCA346501254SPASTc.*789G>C (n.*789G>C)
c.1129G>C (p.Gly377Arg)
c.1126G>C (p.Gly376Arg)
c.983-9585G>C
c.1030G>C (p.Gly344Arg)
c.903G>C
c.871G>C (p.Gly291Arg)
c.288G>C
c.709G>C
c.1005G>C
c.775G>C (p.Gly259Arg)
n.481G>C
n.342G>C
c.579G>C
c.476G>C
c.775G>C
c.1033G>C (p.Gly345Arg)
n.821G>C
c.674-1430G>C
 ClinVar dbSNP
2g.32126978G=CA1242497407SPASTc.*789G= (n.*789G=)
c.1129G= (p.Gly377=)
c.1126G= (p.Gly376=)
c.983-9585G=
c.1030G= (p.Gly344=)
c.903G=
c.871G= (p.Gly291=)
c.288G=
c.709G=
c.1005G=
c.775G= (p.Gly259=)
n.481G=
n.342G=
c.579G=
c.476G=
c.775G=
c.1033G= (p.Gly345=)
n.821G=
c.674-1430G=
2g.32126978G>TCA346501255SPASTc.*789G>T (n.*789G>T)
c.1129G>T (p.Gly377Trp)
c.1126G>T (p.Gly376Trp)
c.983-9585G>T
c.1030G>T (p.Gly344Trp)
c.903G>T
c.871G>T (p.Gly291Trp)
c.288G>T
c.709G>T
c.1005G>T
c.775G>T (p.Gly259Trp)
n.481G>T
n.342G>T
c.579G>T
c.476G>T
c.775G>T
c.1033G>T (p.Gly345Trp)
n.821G>T
c.674-1430G>T
2g.32126979G>ACA346501256SPASTc.*790G>A (n.*790G>A)
c.1130G>A (p.Gly377Glu)
c.1127G>A (p.Gly376Glu)
c.983-9584G>A
c.1031G>A (p.Gly344Glu)
c.904G>A
c.872G>A (p.Gly291Glu)
c.289G>A
c.710G>A
c.1006G>A
c.776G>A (p.Gly259Glu)
n.482G>A
n.343G>A
c.580G>A
c.477G>A
c.776G>A
c.1034G>A (p.Gly345Glu)
n.822G>A
c.674-1429G>A
2g.32126979G>CCA346501257SPASTc.*790G>C (n.*790G>C)
c.1130G>C (p.Gly377Ala)
c.1127G>C (p.Gly376Ala)
c.983-9584G>C
c.1031G>C (p.Gly344Ala)
c.904G>C
c.872G>C (p.Gly291Ala)
c.289G>C
c.710G>C
c.1006G>C
c.776G>C (p.Gly259Ala)
n.482G>C
n.343G>C
c.580G>C
c.477G>C
c.776G>C
c.1034G>C (p.Gly345Ala)
n.822G>C
c.674-1429G>C
2g.32126979G>TCA346501258SPASTc.*790G>T (n.*790G>T)
c.1130G>T (p.Gly377Val)
c.1127G>T (p.Gly376Val)
c.983-9584G>T
c.1031G>T (p.Gly344Val)
c.904G>T
c.872G>T (p.Gly291Val)
c.289G>T
c.710G>T
c.1006G>T
c.776G>T (p.Gly259Val)
n.482G>T
n.343G>T
c.580G>T
c.477G>T
c.776G>T
c.1034G>T (p.Gly345Val)
n.822G>T
c.674-1429G>T
2g.32126980G>ACA425446586SPASTc.*791G>A (n.*791G>A)
c.1131G>A (p.Gly377=)
c.1128G>A (p.Gly376=)
c.983-9583G>A
c.1032G>A (p.Gly344=)
c.905G>A
c.873G>A (p.Gly291=)
c.290G>A
c.711G>A
c.1007G>A
c.777G>A (p.Gly259=)
n.483G>A
n.344G>A
c.581G>A
c.478G>A
c.777G>A
c.1035G>A (p.Gly345=)
n.823G>A
c.674-1428G>A
 dbSNP
2g.32126980G>CCA425446587SPASTc.*791G>C (n.*791G>C)
c.1131G>C (p.Gly377=)
c.1128G>C (p.Gly376=)
c.983-9583G>C
c.1032G>C (p.Gly344=)
c.905G>C
c.873G>C (p.Gly291=)
c.290G>C
c.711G>C
c.1007G>C
c.777G>C (p.Gly259=)
n.483G>C
n.344G>C
c.581G>C
c.478G>C
c.777G>C
c.1035G>C (p.Gly345=)
n.823G>C
c.674-1428G>C
2g.32126980G=CA1242497408SPASTc.*791G= (n.*791G=)
c.1131G= (p.Gly377=)
c.1128G= (p.Gly376=)
c.983-9583G=
c.1032G= (p.Gly344=)
c.905G=
c.873G= (p.Gly291=)
c.290G=
c.711G=
c.1007G=
c.777G= (p.Gly259=)
n.483G=
n.344G=
c.581G=
c.478G=
c.777G=
c.1035G= (p.Gly345=)
n.823G=
c.674-1428G=
2g.32126980G>TCA425446585SPASTc.*791G>T (n.*791G>T)
c.1131G>T (p.Gly377=)
c.1128G>T (p.Gly376=)
c.983-9583G>T
c.1032G>T (p.Gly344=)
c.905G>T
c.873G>T (p.Gly291=)
c.290G>T
c.711G>T
c.1007G>T
c.777G>T (p.Gly259=)
n.483G>T
n.344G>T
c.581G>T
c.478G>T
c.777G>T
c.1035G>T (p.Gly345=)
n.823G>T
c.674-1428G>T
2g.32126981C>ACA346501259SPASTc.*792C>A (n.*792C>A)
c.1132C>A (p.Leu378Met)
c.1129C>A (p.Leu377Met)
c.983-9582C>A
c.1033C>A (p.Leu345Met)
c.906C>A
c.874C>A (p.Leu292Met)
c.291C>A
c.712C>A
c.1008C>A
c.778C>A (p.Leu260Met)
n.484C>A
n.345C>A
c.582C>A
c.479C>A
c.778C>A
c.1036C>A (p.Leu346Met)
n.824C>A
c.674-1427C>A
2g.32126981C>GCA346501260SPASTc.*792C>G (n.*792C>G)
c.1132C>G (p.Leu378Val)
c.1129C>G (p.Leu377Val)
c.983-9582C>G
c.1033C>G (p.Leu345Val)
c.906C>G
c.874C>G (p.Leu292Val)
c.291C>G
c.712C>G
c.1008C>G
c.778C>G (p.Leu260Val)
n.484C>G
n.345C>G
c.582C>G
c.479C>G
c.778C>G
c.1036C>G (p.Leu346Val)
n.824C>G
c.674-1427C>G
 ClinVar dbSNP
2g.32126981C>TCA425446588SPASTc.*792C>T (n.*792C>T)
c.1132C>T (p.Leu378=)
c.1129C>T (p.Leu377=)
c.983-9582C>T
c.1033C>T (p.Leu345=)
c.906C>T
c.874C>T (p.Leu292=)
c.291C>T
c.712C>T
c.1008C>T
c.778C>T (p.Leu260=)
n.484C>T
n.345C>T
c.582C>T
c.479C>T
c.778C>T
c.1036C>T (p.Leu346=)
n.824C>T
c.674-1427C>T
2g.32126981_32126992delinsACCCTCCCAGCA2586964658SPASTc.*792_*803delinsACCCTCCCAG (n.*792_*803delinsACCCTCCCAG)
c.1132_1143delinsACCCTCCCAG (p.Leu378ThrfsTer15)
c.1129_1140delinsACCCTCCCAG (p.Leu377ThrfsTer15)
c.983-9582_983-9571delinsACCCTCCCAG
c.1033_1044delinsACCCTCCCAG (p.Leu345ThrfsTer15)
c.906_917delinsACCCTCCCAG
c.874_885delinsACCCTCCCAG (p.Leu292ThrfsTer15)
c.291_302delinsACCCTCCCAG
c.712_723delinsACCCTCCCAG
c.1008_1019delinsACCCTCCCAG
c.778_789delinsACCCTCCCAG (p.Leu260ThrfsTer15)
n.484_495delinsACCCTCCCAG
n.345_356delinsACCCTCCCAG
c.582_593delinsACCCTCCCAG
c.479_490delinsACCCTCCCAG
c.778_789delinsACCCTCCCAG
c.1036_1047delinsACCCTCCCAG (p.Leu346ThrfsTer15)
n.824_835delinsACCCTCCCAG
c.674-1427_674-1416delinsACCCTCCCAG
2g.32126982T>ACA346501261SPASTc.*793T>A (n.*793T>A)
c.1133T>A (p.Leu378Gln)
c.1130T>A (p.Leu377Gln)
c.983-9581T>A
c.1034T>A (p.Leu345Gln)
c.907T>A
c.875T>A (p.Leu292Gln)
c.292T>A
c.713T>A
c.1009T>A
c.779T>A (p.Leu260Gln)
n.485T>A
n.346T>A
c.583T>A
c.480T>A
c.779T>A
c.1037T>A (p.Leu346Gln)
n.825T>A
c.674-1426T>A
 ClinVar dbSNP
2g.32126982T>CCA346501262SPASTc.*793T>C (n.*793T>C)
c.1133T>C (p.Leu378Pro)
c.1130T>C (p.Leu377Pro)
c.983-9581T>C
c.1034T>C (p.Leu345Pro)
c.907T>C
c.875T>C (p.Leu292Pro)
c.292T>C
c.713T>C
c.1009T>C
c.779T>C (p.Leu260Pro)
n.485T>C
n.346T>C
c.583T>C
c.480T>C
c.779T>C
c.1037T>C (p.Leu346Pro)
n.825T>C
c.674-1426T>C
2g.32126982T>GCA346501263SPASTc.*793T>G (n.*793T>G)
c.1133T>G (p.Leu378Arg)
c.1130T>G (p.Leu377Arg)
c.983-9581T>G
c.1034T>G (p.Leu345Arg)
c.907T>G
c.875T>G (p.Leu292Arg)
c.292T>G
c.713T>G
c.1009T>G
c.779T>G (p.Leu260Arg)
n.485T>G
n.346T>G
c.583T>G
c.480T>G
c.779T>G
c.1037T>G (p.Leu346Arg)
n.825T>G
c.674-1426T>G
 dbSNP
2g.32126982T=CA1242497409SPASTc.*793T= (n.*793T=)
c.1133T= (p.Leu378=)
c.1130T= (p.Leu377=)
c.983-9581T=
c.1034T= (p.Leu345=)
c.907T=
c.875T= (p.Leu292=)
c.292T=
c.713T=
c.1009T=
c.779T= (p.Leu260=)
n.485T=
n.346T=
c.583T=
c.480T=
c.779T=
c.1037T= (p.Leu346=)
n.825T=
c.674-1426T=
2g.32126983_32126984delCA2586964660SPASTc.*794_*795del (n.*794_*795del)
c.1134_1135del (p.Leu379ThrfsTer14)
c.1131_1132del (p.Leu378ThrfsTer14)
c.983-9580_983-9579del
c.1035_1036del (p.Leu346ThrfsTer14)
c.908_909del
c.876_877del (p.Leu293ThrfsTer14)
c.293_294del
c.714_715del
c.1010_1011del
c.780_781del (p.Leu261ThrfsTer14)
n.486_487del
n.347_348del
c.584_585del
c.481_482del
c.780_781del
c.1038_1039del (p.Leu347ThrfsTer14)
n.826_827del
c.674-1425_674-1424del
2g.32126983G>ACA425446595SPASTc.*794G>A (n.*794G>A)
c.1134G>A (p.Leu378=)
c.1131G>A (p.Leu377=)
c.983-9580G>A
c.1035G>A (p.Leu345=)
c.908G>A
c.876G>A (p.Leu292=)
c.293G>A
c.714G>A
c.1010G>A
c.780G>A (p.Leu260=)
n.486G>A
n.347G>A
c.584G>A
c.481G>A
c.780G>A
c.1038G>A (p.Leu346=)
n.826G>A
c.674-1425G>A
 dbSNP
2g.32126983G>CCA425446593SPASTc.*794G>C (n.*794G>C)
c.1134G>C (p.Leu378=)
c.1131G>C (p.Leu377=)
c.983-9580G>C
c.1035G>C (p.Leu345=)
c.908G>C
c.876G>C (p.Leu292=)
c.293G>C
c.714G>C
c.1010G>C
c.780G>C (p.Leu260=)
n.486G>C
n.347G>C
c.584G>C
c.481G>C
c.780G>C
c.1038G>C (p.Leu346=)
n.826G>C
c.674-1425G>C
2g.32126983G=CA1242497410SPASTc.*794G= (n.*794G=)
c.1134G= (p.Leu378=)
c.1131G= (p.Leu377=)
c.983-9580G=
c.1035G= (p.Leu345=)
c.908G=
c.876G= (p.Leu292=)
c.293G=
c.714G=
c.1010G=
c.780G= (p.Leu260=)
n.486G=
n.347G=
c.584G=
c.481G=
c.780G=
c.1038G= (p.Leu346=)
n.826G=
c.674-1425G=
2g.32126983G>TCA425446594SPASTc.*794G>T (n.*794G>T)
c.1134G>T (p.Leu378=)
c.1131G>T (p.Leu377=)
c.983-9580G>T
c.1035G>T (p.Leu345=)
c.908G>T
c.876G>T (p.Leu292=)
c.293G>T
c.714G>T
c.1010G>T
c.780G>T (p.Leu260=)
n.486G>T
n.347G>T
c.584G>T
c.481G>T
c.780G>T
c.1038G>T (p.Leu346=)
n.826G>T
c.674-1425G>T
2g.32126984T>ACA346501264SPASTc.*795T>A (n.*795T>A)
c.1135T>A (p.Leu379Ile)
c.1132T>A (p.Leu378Ile)
c.983-9579T>A
c.1036T>A (p.Leu346Ile)
c.909T>A
c.877T>A (p.Leu293Ile)
c.294T>A
c.715T>A
c.1011T>A
c.781T>A (p.Leu261Ile)
n.487T>A
n.348T>A
c.585T>A
c.482T>A
c.781T>A
c.1039T>A (p.Leu347Ile)
n.827T>A
c.674-1424T>A
2g.32126984T>CCA425446596SPASTc.*795T>C (n.*795T>C)
c.1135T>C (p.Leu379=)
c.1132T>C (p.Leu378=)
c.983-9579T>C
c.1036T>C (p.Leu346=)
c.909T>C
c.877T>C (p.Leu293=)
c.294T>C
c.715T>C
c.1011T>C
c.781T>C (p.Leu261=)
n.487T>C
n.348T>C
c.585T>C
c.482T>C
c.781T>C
c.1039T>C (p.Leu347=)
n.827T>C
c.674-1424T>C
 COSMIC
2g.32126984T>GCA346501265SPASTc.*795T>G (n.*795T>G)
c.1135T>G (p.Leu379Val)
c.1132T>G (p.Leu378Val)
c.983-9579T>G
c.1036T>G (p.Leu346Val)
c.909T>G
c.877T>G (p.Leu293Val)
c.294T>G
c.715T>G
c.1011T>G
c.781T>G (p.Leu261Val)
n.487T>G
n.348T>G
c.585T>G
c.482T>G
c.781T>G
c.1039T>G (p.Leu347Val)
n.827T>G
c.674-1424T>G
2g.32126985dupCA2586964663SPASTc.*796dup (n.*796dup)
c.1136dup (p.Leu379PhefsTer15)
c.1133dup (p.Leu378PhefsTer15)
c.983-9578dup
c.1037dup (p.Leu346PhefsTer15)
c.910dup
c.878dup (p.Leu293PhefsTer15)
c.295dup
c.716dup
c.1012dup
c.782dup (p.Leu261PhefsTer15)
n.488dup
n.349dup
c.586dup
c.483dup
c.782dup
c.1040dup (p.Leu347PhefsTer15)
n.828dup
c.674-1423dup
2g.32126985delCA2576930322SPASTc.*796del (n.*796del)
c.1136del (p.Leu379TyrfsTer17)
c.1133del (p.Leu378TyrfsTer17)
c.983-9578del
c.1037del (p.Leu346TyrfsTer17)
c.910del
c.878del (p.Leu293TyrfsTer17)
c.295del
c.716del
c.1012del
c.782del (p.Leu261TyrfsTer17)
n.488del
n.349del
c.586del
c.483del
c.782del
c.1040del (p.Leu347TyrfsTer17)
n.828del
c.674-1423del
2g.32126986_32126991delCA2586964662SPASTc.*797_*802del (n.*797_*802del)
c.1137_1142del (p.Leu379_Leu380del)
c.1134_1139del (p.Leu378_Leu379del)
c.983-9577_983-9572del
c.1038_1043del (p.Leu346_Leu347del)
c.911_916del
c.879_884del (p.Leu293_Leu294del)
c.296_301del
c.717_722del
c.1013_1018del
c.783_788del (p.Leu261_Leu262del)
n.489_494del
n.350_355del
c.587_592del
c.484_489del
c.783_788del
c.1041_1046del (p.Leu347_Leu348del)
n.829_834del
c.674-1422_674-1417del
2g.32126985T>ACA346501268SPASTc.*796T>A (n.*796T>A)
c.1136T>A (p.Leu379Ter)
c.1133T>A (p.Leu378Ter)
c.983-9578T>A
c.1037T>A (p.Leu346Ter)
c.910T>A
c.878T>A (p.Leu293Ter)
c.295T>A
c.716T>A
c.1012T>A
c.782T>A (p.Leu261Ter)
n.488T>A
n.349T>A
c.586T>A
c.483T>A
c.782T>A
c.1040T>A (p.Leu347Ter)
n.828T>A
c.674-1423T>A
2g.32126985T>CCA346501266SPASTc.*796T>C (n.*796T>C)
c.1136T>C (p.Leu379Ser)
c.1133T>C (p.Leu378Ser)
c.983-9578T>C
c.1037T>C (p.Leu346Ser)
c.910T>C
c.878T>C (p.Leu293Ser)
c.295T>C
c.716T>C
c.1012T>C
c.782T>C (p.Leu261Ser)
n.488T>C
n.349T>C
c.586T>C
c.483T>C
c.782T>C
c.1040T>C (p.Leu347Ser)
n.828T>C
c.674-1423T>C
2g.32126985T>GCA346501267SPASTc.*796T>G (n.*796T>G)
c.1136T>G (p.Leu379Ter)
c.1133T>G (p.Leu378Ter)
c.983-9578T>G
c.1037T>G (p.Leu346Ter)
c.910T>G
c.878T>G (p.Leu293Ter)
c.295T>G
c.716T>G
c.1012T>G
c.782T>G (p.Leu261Ter)
n.488T>G
n.349T>G
c.586T>G
c.483T>G
c.782T>G
c.1040T>G (p.Leu347Ter)
n.828T>G
c.674-1423T>G
2g.32126986A>CCA346501269SPASTc.*797A>C (n.*797A>C)
c.1137A>C (p.Leu379Phe)
c.1134A>C (p.Leu378Phe)
c.983-9577A>C
c.1038A>C (p.Leu346Phe)
c.911A>C
c.879A>C (p.Leu293Phe)
c.296A>C
c.717A>C
c.1013A>C
c.783A>C (p.Leu261Phe)
n.489A>C
n.350A>C
c.587A>C
c.484A>C
c.783A>C
c.1041A>C (p.Leu347Phe)
n.829A>C
c.674-1422A>C
2g.32126986A>GCA425446598SPASTc.*797A>G (n.*797A>G)
c.1137A>G (p.Leu379=)
c.1134A>G (p.Leu378=)
c.983-9577A>G
c.1038A>G (p.Leu346=)
c.911A>G
c.879A>G (p.Leu293=)
c.296A>G
c.717A>G
c.1013A>G
c.783A>G (p.Leu261=)
n.489A>G
n.350A>G
c.587A>G
c.484A>G
c.783A>G
c.1041A>G (p.Leu347=)
n.829A>G
c.674-1422A>G
2g.32126986A>TCA346501270SPASTc.*797A>T (n.*797A>T)
c.1137A>T (p.Leu379Phe)
c.1134A>T (p.Leu378Phe)
c.983-9577A>T
c.1038A>T (p.Leu346Phe)
c.911A>T
c.879A>T (p.Leu293Phe)
c.296A>T
c.717A>T
c.1013A>T
c.783A>T (p.Leu261Phe)
n.489A>T
n.350A>T
c.587A>T
c.484A>T
c.783A>T
c.1041A>T (p.Leu347Phe)
n.829A>T
c.674-1422A>T
2g.32126986dupCA2586964665SPASTc.*797dup (n.*797dup)
c.1137dup (p.Leu380ThrfsTer14)
c.1134dup (p.Leu379ThrfsTer14)
c.983-9577dup
c.1038dup (p.Leu347ThrfsTer14)
c.911dup
c.879dup (p.Leu294ThrfsTer14)
c.296dup
c.717dup
c.1013dup
c.783dup (p.Leu262ThrfsTer14)
n.489dup
n.350dup
c.587dup
c.484dup
c.783dup
c.1041dup (p.Leu348ThrfsTer14)
n.829dup
c.674-1422dup
2g.32126987C>ACA346501271SPASTc.*798C>A (n.*798C>A)
c.1138C>A (p.Leu380Ile)
c.1135C>A (p.Leu379Ile)
c.983-9576C>A
c.1039C>A (p.Leu347Ile)
c.912C>A
c.880C>A (p.Leu294Ile)
c.297C>A
c.718C>A
c.1014C>A
c.784C>A (p.Leu262Ile)
n.490C>A
n.351C>A
c.588C>A
c.485C>A
c.784C>A
c.1042C>A (p.Leu348Ile)
n.830C>A
c.674-1421C>A
2g.32126987C=CA1242497411SPASTc.*798C= (n.*798C=)
c.1138C= (p.Leu380=)
c.1135C= (p.Leu379=)
c.983-9576C=
c.1039C= (p.Leu347=)
c.912C=
c.880C= (p.Leu294=)
c.297C=
c.718C=
c.1014C=
c.784C= (p.Leu262=)
n.490C=
n.351C=
c.588C=
c.485C=
c.784C=
c.1042C= (p.Leu348=)
n.830C=
c.674-1421C=
2g.32126987C>GCA346501272SPASTc.*798C>G (n.*798C>G)
c.1138C>G (p.Leu380Val)
c.1135C>G (p.Leu379Val)
c.983-9576C>G
c.1039C>G (p.Leu347Val)
c.912C>G
c.880C>G (p.Leu294Val)
c.297C>G
c.718C>G
c.1014C>G
c.784C>G (p.Leu262Val)
n.490C>G
n.351C>G
c.588C>G
c.485C>G
c.784C>G
c.1042C>G (p.Leu348Val)
n.830C>G
c.674-1421C>G
 dbSNP gnomAD v4
2g.32126987C>TCA346501273SPASTc.*798C>T (n.*798C>T)
c.1138C>T (p.Leu380Phe)
c.1135C>T (p.Leu379Phe)
c.983-9576C>T
c.1039C>T (p.Leu347Phe)
c.912C>T
c.880C>T (p.Leu294Phe)
c.297C>T
c.718C>T
c.1014C>T
c.784C>T (p.Leu262Phe)
n.490C>T
n.351C>T
c.588C>T
c.485C>T
c.784C>T
c.1042C>T (p.Leu348Phe)
n.830C>T
c.674-1421C>T
2g.32126989_32126990dupCA2580611618SPASTc.*800_*801dup (n.*800_*801dup)
c.1140_1141dup (p.Phe381SerfsTer16)
c.1137_1138dup (p.Phe380SerfsTer16)
c.983-9574_983-9573dup
c.1041_1042dup (p.Phe348SerfsTer16)
c.914_915dup
c.882_883dup (p.Phe295SerfsTer16)
c.299_300dup
c.720_721dup
c.1016_1017dup
c.786_787dup (p.Phe263SerfsTer16)
n.492_493dup
n.353_354dup
c.590_591dup
c.487_488dup
c.786_787dup
c.1044_1045dup (p.Phe349SerfsTer16)
n.832_833dup
c.674-1419_674-1418dup
 ClinVar
2g.32126988_32126997delCA2586964667SPASTc.*799_*808del (n.*799_*808del)
c.1139_1148del (p.Leu380HisfsTer13)
c.1136_1145del (p.Leu379HisfsTer13)
c.983-9575_983-9566del
c.1040_1049del (p.Leu347HisfsTer13)
c.913_922del
c.881_890del (p.Leu294HisfsTer13)
c.298_307del
c.719_728del
c.1015_1024del
c.785_794del (p.Leu262HisfsTer13)
n.491_500del
n.352_361del
c.589_598del
c.486_495del
c.785_794del
c.1043_1052del (p.Leu348HisfsTer13)
n.831_840del
c.674-1420_674-1411del
2g.32126988T>ACA346501274SPASTc.*799T>A (n.*799T>A)
c.1139T>A (p.Leu380His)
c.1136T>A (p.Leu379His)
c.983-9575T>A
c.1040T>A (p.Leu347His)
c.913T>A
c.881T>A (p.Leu294His)
c.298T>A
c.719T>A
c.1015T>A
c.785T>A (p.Leu262His)
n.491T>A
n.352T>A
c.589T>A
c.486T>A
c.785T>A
c.1043T>A (p.Leu348His)
n.831T>A
c.674-1420T>A
 dbSNP
2g.32126988T>CCA346501275SPASTc.*799T>C (n.*799T>C)
c.1139T>C (p.Leu380Pro)
c.1136T>C (p.Leu379Pro)
c.983-9575T>C
c.1040T>C (p.Leu347Pro)
c.913T>C
c.881T>C (p.Leu294Pro)
c.298T>C
c.719T>C
c.1015T>C
c.785T>C (p.Leu262Pro)
n.491T>C
n.352T>C
c.589T>C
c.486T>C
c.785T>C
c.1043T>C (p.Leu348Pro)
n.831T>C
c.674-1420T>C
 ClinVar dbSNP
2g.32126988T>GCA346501276SPASTc.*799T>G (n.*799T>G)
c.1139T>G (p.Leu380Arg)
c.1136T>G (p.Leu379Arg)
c.983-9575T>G
c.1040T>G (p.Leu347Arg)
c.913T>G
c.881T>G (p.Leu294Arg)
c.298T>G
c.719T>G
c.1015T>G
c.785T>G (p.Leu262Arg)
n.491T>G
n.352T>G
c.589T>G
c.486T>G
c.785T>G
c.1043T>G (p.Leu348Arg)
n.831T>G
c.674-1420T>G
2g.32126988T=CA1242497412SPASTc.*799T= (n.*799T=)
c.1139T= (p.Leu380=)
c.1136T= (p.Leu379=)
c.983-9575T=
c.1040T= (p.Leu347=)
c.913T=
c.881T= (p.Leu294=)
c.298T=
c.719T=
c.1015T=
c.785T= (p.Leu262=)
n.491T=
n.352T=
c.589T=
c.486T=
c.785T=
c.1043T= (p.Leu348=)
n.831T=
c.674-1420T=
2g.32126988_32127009delCA2573134504SPASTc.*799_*820del (n.*799_*820del)
c.1139_1160del (p.Leu380ArgfsTer9)
c.1136_1157del (p.Leu379ArgfsTer9)
c.983-9575_983-9554del
c.1040_1061del (p.Leu347ArgfsTer9)
c.913_934del
c.881_902del (p.Leu294ArgfsTer9)
c.298_319del
c.719_740del
c.1015_1036del
c.785_806del (p.Leu262ArgfsTer9)
n.491_512del
n.352_373del
c.589_610del
c.486_507del
c.785_806del
c.1043_1064del (p.Leu348ArgfsTer9)
n.831_852del
c.674-1420_674-1399del
 ClinVar dbSNP
2g.32126989delCA2586964671SPASTc.*800del (n.*800del)
c.1140del (p.Phe381LeufsTer15)
c.1137del (p.Phe380LeufsTer15)
c.983-9574del
c.1041del (p.Phe348LeufsTer15)
c.914del
c.882del (p.Phe295LeufsTer15)
c.299del
c.720del
c.1016del
c.786del (p.Phe263LeufsTer15)
n.492del
n.353del
c.590del
c.487del
c.786del
c.1044del (p.Phe349LeufsTer15)
n.832del
c.674-1419del
2g.32126989C>ACA425446602SPASTc.*800C>A (n.*800C>A)
c.1140C>A (p.Leu380=)
c.1137C>A (p.Leu379=)
c.983-9574C>A
c.1041C>A (p.Leu347=)
c.914C>A
c.882C>A (p.Leu294=)
c.299C>A
c.720C>A
c.1016C>A
c.786C>A (p.Leu262=)
n.492C>A
n.353C>A
c.590C>A
c.487C>A
c.786C>A
c.1044C>A (p.Leu348=)
n.832C>A
c.674-1419C>A
 dbSNP
2g.32126989C=CA1242497413SPASTc.*800C= (n.*800C=)
c.1140C= (p.Leu380=)
c.1137C= (p.Leu379=)
c.983-9574C=
c.1041C= (p.Leu347=)
c.914C=
c.882C= (p.Leu294=)
c.299C=
c.720C=
c.1016C=
c.786C= (p.Leu262=)
n.492C=
n.353C=
c.590C=
c.487C=
c.786C=
c.1044C= (p.Leu348=)
n.832C=
c.674-1419C=
2g.32126989C>GCA425446603SPASTc.*800C>G (n.*800C>G)
c.1140C>G (p.Leu380=)
c.1137C>G (p.Leu379=)
c.983-9574C>G
c.1041C>G (p.Leu347=)
c.914C>G
c.882C>G (p.Leu294=)
c.299C>G
c.720C>G
c.1016C>G
c.786C>G (p.Leu262=)
n.492C>G
n.353C>G
c.590C>G
c.487C>G
c.786C>G
c.1044C>G (p.Leu348=)
n.832C>G
c.674-1419C>G
 gnomAD v4
2g.32126989C>TCA425446604SPASTc.*800C>T (n.*800C>T)
c.1140C>T (p.Leu380=)
c.1137C>T (p.Leu379=)
c.983-9574C>T
c.1041C>T (p.Leu347=)
c.914C>T
c.882C>T (p.Leu294=)
c.299C>T
c.720C>T
c.1016C>T
c.786C>T (p.Leu262=)
n.492C>T
n.353C>T
c.590C>T
c.487C>T
c.786C>T
c.1044C>T (p.Leu348=)
n.832C>T
c.674-1419C>T
2g.32126990T>ACA346501277SPASTc.*801T>A (n.*801T>A)
c.1141T>A (p.Phe381Ile)
c.1138T>A (p.Phe380Ile)
c.983-9573T>A
c.1042T>A (p.Phe348Ile)
c.915T>A
c.883T>A (p.Phe295Ile)
c.300T>A
c.721T>A
c.1017T>A
c.787T>A (p.Phe263Ile)
n.493T>A
n.354T>A
c.591T>A
c.488T>A
c.787T>A
c.1045T>A (p.Phe349Ile)
n.833T>A
c.674-1418T>A
2g.32126990T>CCA346501278SPASTc.*801T>C (n.*801T>C)
c.1141T>C (p.Phe381Leu)
c.1138T>C (p.Phe380Leu)
c.983-9573T>C
c.1042T>C (p.Phe348Leu)
c.915T>C
c.883T>C (p.Phe295Leu)
c.300T>C
c.721T>C
c.1017T>C
c.787T>C (p.Phe263Leu)
n.493T>C
n.354T>C
c.591T>C
c.488T>C
c.787T>C
c.1045T>C (p.Phe349Leu)
n.833T>C
c.674-1418T>C
 dbSNP
2g.32126990T>GCA346501279SPASTc.*801T>G (n.*801T>G)
c.1141T>G (p.Phe381Val)
c.1138T>G (p.Phe380Val)
c.983-9573T>G
c.1042T>G (p.Phe348Val)
c.915T>G
c.883T>G (p.Phe295Val)
c.300T>G
c.721T>G
c.1017T>G
c.787T>G (p.Phe263Val)
n.493T>G
n.354T>G
c.591T>G
c.488T>G
c.787T>G
c.1045T>G (p.Phe349Val)
n.833T>G
c.674-1418T>G
 ClinVar dbSNP
2g.32126990T=CA1242497414SPASTc.*801T= (n.*801T=)
c.1141T= (p.Phe381=)
c.1138T= (p.Phe380=)
c.983-9573T=
c.1042T= (p.Phe348=)
c.915T=
c.883T= (p.Phe295=)
c.300T=
c.721T=
c.1017T=
c.787T= (p.Phe263=)
n.493T=
n.354T=
c.591T=
c.488T=
c.787T=
c.1045T= (p.Phe349=)
n.833T=
c.674-1418T=
2g.32126991_32126992delCA645526457SPASTc.*802_*803del (n.*802_*803del)
c.1142_1143del (p.Phe381TrpfsTer12)
c.1139_1140del (p.Phe380TrpfsTer12)
c.983-9572_983-9571del
c.1043_1044del (p.Phe348TrpfsTer12)
c.916_917del
c.884_885del (p.Phe295TrpfsTer12)
c.301_302del
c.722_723del
c.1018_1019del
c.788_789del (p.Phe263TrpfsTer12)
n.494_495del
n.355_356del
c.592_593del
c.489_490del
c.788_789del
c.1046_1047del (p.Phe349TrpfsTer12)
n.834_835del
c.674-1417_674-1416del
 COSMIC
2g.32126991T>ACA346501282SPASTc.*802T>A (n.*802T>A)
c.1142T>A (p.Phe381Tyr)
c.1139T>A (p.Phe380Tyr)
c.983-9572T>A
c.1043T>A (p.Phe348Tyr)
c.916T>A
c.884T>A (p.Phe295Tyr)
c.301T>A
c.722T>A
c.1018T>A
c.788T>A (p.Phe263Tyr)
n.494T>A
n.355T>A
c.592T>A
c.489T>A
c.788T>A
c.1046T>A (p.Phe349Tyr)
n.834T>A
c.674-1417T>A
2g.32126991T>CCA346501281SPASTc.*802T>C (n.*802T>C)
c.1142T>C (p.Phe381Ser)
c.1139T>C (p.Phe380Ser)
c.983-9572T>C
c.1043T>C (p.Phe348Ser)
c.916T>C
c.884T>C (p.Phe295Ser)
c.301T>C
c.722T>C
c.1018T>C
c.788T>C (p.Phe263Ser)
n.494T>C
n.355T>C
c.592T>C
c.489T>C
c.788T>C
c.1046T>C (p.Phe349Ser)
n.834T>C
c.674-1417T>C
2g.32126991T>GCA346501280SPASTc.*802T>G (n.*802T>G)
c.1142T>G (p.Phe381Cys)
c.1139T>G (p.Phe380Cys)
c.983-9572T>G
c.1043T>G (p.Phe348Cys)
c.916T>G
c.884T>G (p.Phe295Cys)
c.301T>G
c.722T>G
c.1018T>G
c.788T>G (p.Phe263Cys)
n.494T>G
n.355T>G
c.592T>G
c.489T>G
c.788T>G
c.1046T>G (p.Phe349Cys)
n.834T>G
c.674-1417T>G
 dbSNP
2g.32126991T=CA1242497415SPASTc.*802T= (n.*802T=)
c.1142T= (p.Phe381=)
c.1139T= (p.Phe380=)
c.983-9572T=
c.1043T= (p.Phe348=)
c.916T=
c.884T= (p.Phe295=)
c.301T=
c.722T=
c.1018T=
c.788T= (p.Phe263=)
n.494T=
n.355T=
c.592T=
c.489T=
c.788T=
c.1046T= (p.Phe349=)
n.834T=
c.674-1417T=
2g.32126992T>ACA346501283SPASTc.*803T>A (n.*803T>A)
c.1143T>A (p.Phe381Leu)
c.1140T>A (p.Phe380Leu)
c.983-9571T>A
c.1044T>A (p.Phe348Leu)
c.917T>A
c.885T>A (p.Phe295Leu)
c.302T>A
c.723T>A
c.1019T>A
c.789T>A (p.Phe263Leu)
n.495T>A
n.356T>A
c.593T>A
c.490T>A
c.789T>A
c.1047T>A (p.Phe349Leu)
n.835T>A
c.674-1416T>A
2g.32126992T>CCA425446608SPASTc.*803T>C (n.*803T>C)
c.1143T>C (p.Phe381=)
c.1140T>C (p.Phe380=)
c.983-9571T>C
c.1044T>C (p.Phe348=)
c.917T>C
c.885T>C (p.Phe295=)
c.302T>C
c.723T>C
c.1019T>C
c.789T>C (p.Phe263=)
n.495T>C
n.356T>C
c.593T>C
c.490T>C
c.789T>C
c.1047T>C (p.Phe349=)
n.835T>C
c.674-1416T>C
2g.32126992T>GCA346501284SPASTc.*803T>G (n.*803T>G)
c.1143T>G (p.Phe381Leu)
c.1140T>G (p.Phe380Leu)
c.983-9571T>G
c.1044T>G (p.Phe348Leu)
c.917T>G
c.885T>G (p.Phe295Leu)
c.302T>G
c.723T>G
c.1019T>G
c.789T>G (p.Phe263Leu)
n.495T>G
n.356T>G
c.593T>G
c.490T>G
c.789T>G
c.1047T>G (p.Phe349Leu)
n.835T>G
c.674-1416T>G
2g.32126993G>ACA346501286SPASTc.*804G>A (n.*804G>A)
c.1144G>A (p.Gly382Ser)
c.1141G>A (p.Gly381Ser)
c.983-9570G>A
c.1045G>A (p.Gly349Ser)
c.918G>A
c.886G>A (p.Gly296Ser)
c.303G>A
c.724G>A
c.1020G>A
c.790G>A (p.Gly264Ser)
n.496G>A
n.357G>A
c.594G>A
c.491G>A
c.790G>A
c.1048G>A (p.Gly350Ser)
n.836G>A
c.674-1415G>A
2g.32126993G>CCA346501287SPASTc.*804G>C (n.*804G>C)
c.1144G>C (p.Gly382Arg)
c.1141G>C (p.Gly381Arg)
c.983-9570G>C
c.1045G>C (p.Gly349Arg)
c.918G>C
c.886G>C (p.Gly296Arg)
c.303G>C
c.724G>C
c.1020G>C
c.790G>C (p.Gly264Arg)
n.496G>C
n.357G>C
c.594G>C
c.491G>C
c.790G>C
c.1048G>C (p.Gly350Arg)
n.836G>C
c.674-1415G>C
 dbSNP gnomAD v4
2g.32126993G=CA1242497416SPASTc.*804G= (n.*804G=)
c.1144G= (p.Gly382=)
c.1141G= (p.Gly381=)
c.983-9570G=
c.1045G= (p.Gly349=)
c.918G=
c.886G= (p.Gly296=)
c.303G=
c.724G=
c.1020G=
c.790G= (p.Gly264=)
n.496G=
n.357G=
c.594G=
c.491G=
c.790G=
c.1048G= (p.Gly350=)
n.836G=
c.674-1415G=
2g.32126993G>TCA346501288SPASTc.*804G>T (n.*804G>T)
c.1144G>T (p.Gly382Cys)
c.1141G>T (p.Gly381Cys)
c.983-9570G>T
c.1045G>T (p.Gly349Cys)
c.918G>T
c.886G>T (p.Gly296Cys)
c.303G>T
c.724G>T
c.1020G>T
c.790G>T (p.Gly264Cys)
n.496G>T
n.357G>T
c.594G>T
c.491G>T
c.790G>T
c.1048G>T (p.Gly350Cys)
n.836G>T
c.674-1415G>T
 ClinVar
2g.32126994G>ACA346501289SPASTc.*805G>A (n.*805G>A)
c.1145G>A (p.Gly382Asp)
c.1142G>A (p.Gly381Asp)
c.983-9569G>A
c.1046G>A (p.Gly349Asp)
c.919G>A
c.887G>A (p.Gly296Asp)
c.304G>A
c.725G>A
c.1021G>A
c.791G>A (p.Gly264Asp)
n.497G>A
n.358G>A
c.595G>A
c.492G>A
c.791G>A
c.1049G>A (p.Gly350Asp)
n.837G>A
c.674-1414G>A
2g.32126994G>CCA346501290SPASTc.*805G>C (n.*805G>C)
c.1145G>C (p.Gly382Ala)
c.1142G>C (p.Gly381Ala)
c.983-9569G>C
c.1046G>C (p.Gly349Ala)
c.919G>C
c.887G>C (p.Gly296Ala)
c.304G>C
c.725G>C
c.1021G>C
c.791G>C (p.Gly264Ala)
n.497G>C
n.358G>C
c.595G>C
c.492G>C
c.791G>C
c.1049G>C (p.Gly350Ala)
n.837G>C
c.674-1414G>C
 ClinVar dbSNP
2g.32126994G>TCA346501291SPASTc.*805G>T (n.*805G>T)
c.1145G>T (p.Gly382Val)
c.1142G>T (p.Gly381Val)
c.983-9569G>T
c.1046G>T (p.Gly349Val)
c.919G>T
c.887G>T (p.Gly296Val)
c.304G>T
c.725G>T
c.1021G>T
c.791G>T (p.Gly264Val)
n.497G>T
n.358G>T
c.595G>T
c.492G>T
c.791G>T
c.1049G>T (p.Gly350Val)
n.837G>T
c.674-1414G>T
2g.32126994_32126996dupCA2586964679SPASTc.*805_*807dup (n.*805_*807dup)
c.1145_1147dup (p.Gly382_Pro383insArg)
c.1142_1144dup (p.Gly381_Pro382insArg)
c.983-9569_983-9567dup
c.1046_1048dup (p.Gly349_Pro350insArg)
c.919_921dup
c.887_889dup (p.Gly296_Pro297insArg)
c.304_306dup
c.725_727dup
c.1021_1023dup
c.791_793dup (p.Gly264_Pro265insArg)
n.497_499dup
n.358_360dup
c.595_597dup
c.492_494dup
c.791_793dup
c.1049_1051dup (p.Gly350_Pro351insArg)
n.837_839dup
c.674-1414_674-1412dup
2g.32126995T>ACA425446613SPASTc.*806T>A (n.*806T>A)
c.1146T>A (p.Gly382=)
c.1143T>A (p.Gly381=)
c.983-9568T>A
c.1047T>A (p.Gly349=)
c.920T>A
c.888T>A (p.Gly296=)
c.305T>A
c.726T>A
c.1022T>A
c.792T>A (p.Gly264=)
n.498T>A
n.359T>A
c.596T>A
c.493T>A
c.792T>A
c.1050T>A (p.Gly350=)
n.838T>A
c.674-1413T>A
2g.32126995T>CCA425446615SPASTc.*806T>C (n.*806T>C)
c.1146T>C (p.Gly382=)
c.1143T>C (p.Gly381=)
c.983-9568T>C
c.1047T>C (p.Gly349=)
c.920T>C
c.888T>C (p.Gly296=)
c.305T>C
c.726T>C
c.1022T>C
c.792T>C (p.Gly264=)
n.498T>C
n.359T>C
c.596T>C
c.493T>C
c.792T>C
c.1050T>C (p.Gly350=)
n.838T>C
c.674-1413T>C
2g.32126995T>GCA425446617SPASTc.*806T>G (n.*806T>G)
c.1146T>G (p.Gly382=)
c.1143T>G (p.Gly381=)
c.983-9568T>G
c.1047T>G (p.Gly349=)
c.920T>G
c.888T>G (p.Gly296=)
c.305T>G
c.726T>G
c.1022T>G
c.792T>G (p.Gly264=)
n.498T>G
n.359T>G
c.596T>G
c.493T>G
c.792T>G
c.1050T>G (p.Gly350=)
n.838T>G
c.674-1413T>G
2g.32126996C>ACA346501292SPASTc.*807C>A (n.*807C>A)
c.1147C>A (p.Pro383Thr)
c.1144C>A (p.Pro382Thr)
c.983-9567C>A
c.1048C>A (p.Pro350Thr)
c.921C>A
c.889C>A (p.Pro297Thr)
c.306C>A
c.727C>A
c.1023C>A
c.793C>A (p.Pro265Thr)
n.499C>A
n.360C>A
c.597C>A
c.494C>A
c.793C>A
c.1051C>A (p.Pro351Thr)
n.839C>A
c.674-1412C>A
 gnomAD v4
2g.32126996C>GCA346501293SPASTc.*807C>G (n.*807C>G)
c.1147C>G (p.Pro383Ala)
c.1144C>G (p.Pro382Ala)
c.983-9567C>G
c.1048C>G (p.Pro350Ala)
c.921C>G
c.889C>G (p.Pro297Ala)
c.306C>G
c.727C>G
c.1023C>G
c.793C>G (p.Pro265Ala)
n.499C>G
n.360C>G
c.597C>G
c.494C>G
c.793C>G
c.1051C>G (p.Pro351Ala)
n.839C>G
c.674-1412C>G
2g.32126996C>TCA346501294SPASTc.*807C>T (n.*807C>T)
c.1147C>T (p.Pro383Ser)
c.1144C>T (p.Pro382Ser)
c.983-9567C>T
c.1048C>T (p.Pro350Ser)
c.921C>T
c.889C>T (p.Pro297Ser)
c.306C>T
c.727C>T
c.1023C>T
c.793C>T (p.Pro265Ser)
n.499C>T
n.360C>T
c.597C>T
c.494C>T
c.793C>T
c.1051C>T (p.Pro351Ser)
n.839C>T
c.674-1412C>T
 gnomAD v4
2g.32126997delCA2576930324SPASTc.*808del (n.*808del)
c.1148del (p.Pro383HisfsTer13)
c.1145del (p.Pro382HisfsTer13)
c.983-9566del
c.1049del (p.Pro350HisfsTer13)
c.922del
c.890del (p.Pro297HisfsTer13)
c.307del
c.728del
c.1024del
c.794del (p.Pro265HisfsTer13)
n.500del
n.361del
c.598del
c.495del
c.794del
c.1052del (p.Pro351HisfsTer13)
n.840del
c.674-1411del
2g.32126997C>ACA346501295SPASTc.*808C>A (n.*808C>A)
c.1148C>A (p.Pro383Gln)
c.1145C>A (p.Pro382Gln)
c.983-9566C>A
c.1049C>A (p.Pro350Gln)
c.922C>A
c.890C>A (p.Pro297Gln)
c.307C>A
c.728C>A
c.1024C>A
c.794C>A (p.Pro265Gln)
n.500C>A
n.361C>A
c.598C>A
c.495C>A
c.794C>A
c.1052C>A (p.Pro351Gln)
n.840C>A
c.674-1411C>A
 ClinVar dbSNP
2g.32126997C>GCA346501296SPASTc.*808C>G (n.*808C>G)
c.1148C>G (p.Pro383Arg)
c.1145C>G (p.Pro382Arg)
c.983-9566C>G
c.1049C>G (p.Pro350Arg)
c.922C>G
c.890C>G (p.Pro297Arg)
c.307C>G
c.728C>G
c.1024C>G
c.794C>G (p.Pro265Arg)
n.500C>G
n.361C>G
c.598C>G
c.495C>G
c.794C>G
c.1052C>G (p.Pro351Arg)
n.840C>G
c.674-1411C>G
 ClinVar dbSNP
2g.32126997C>TCA346501297SPASTc.*808C>T (n.*808C>T)
c.1148C>T (p.Pro383Leu)
c.1145C>T (p.Pro382Leu)
c.983-9566C>T
c.1049C>T (p.Pro350Leu)
c.922C>T
c.890C>T (p.Pro297Leu)
c.307C>T
c.728C>T
c.1024C>T
c.794C>T (p.Pro265Leu)
n.500C>T
n.361C>T
c.598C>T
c.495C>T
c.794C>T
c.1052C>T (p.Pro351Leu)
n.840C>T
c.674-1411C>T
2g.32126998A=CA1242497417SPASTc.*809A= (n.*809A=)
c.1149A= (p.Pro383=)
c.1146A= (p.Pro382=)
c.983-9565A=
c.1050A= (p.Pro350=)
c.923A=
c.891A= (p.Pro297=)
c.308A=
c.729A=
c.1025A=
c.795A= (p.Pro265=)
n.501A=
n.362A=
c.599A=
c.496A=
c.795A=
c.1053A= (p.Pro351=)
n.841A=
c.674-1410A=
2g.32126998A>CCA425446624SPASTc.*809A>C (n.*809A>C)
c.1149A>C (p.Pro383=)
c.1146A>C (p.Pro382=)
c.983-9565A>C
c.1050A>C (p.Pro350=)
c.923A>C
c.891A>C (p.Pro297=)
c.308A>C
c.729A>C
c.1025A>C
c.795A>C (p.Pro265=)
n.501A>C
n.362A>C
c.599A>C
c.496A>C
c.795A>C
c.1053A>C (p.Pro351=)
n.841A>C
c.674-1410A>C
2g.32126998A>GCA425446622SPASTc.*809A>G (n.*809A>G)
c.1149A>G (p.Pro383=)
c.1146A>G (p.Pro382=)
c.983-9565A>G
c.1050A>G (p.Pro350=)
c.923A>G
c.891A>G (p.Pro297=)
c.308A>G
c.729A>G
c.1025A>G
c.795A>G (p.Pro265=)
n.501A>G
n.362A>G
c.599A>G
c.496A>G
c.795A>G
c.1053A>G (p.Pro351=)
n.841A>G
c.674-1410A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32126998A>TCA425446623SPASTc.*809A>T (n.*809A>T)
c.1149A>T (p.Pro383=)
c.1146A>T (p.Pro382=)
c.983-9565A>T
c.1050A>T (p.Pro350=)
c.923A>T
c.891A>T (p.Pro297=)
c.308A>T
c.729A>T
c.1025A>T
c.795A>T (p.Pro265=)
n.501A>T
n.362A>T
c.599A>T
c.496A>T
c.795A>T
c.1053A>T (p.Pro351=)
n.841A>T
c.674-1410A>T
 ClinVar
2g.32126999C>ACA346501300SPASTc.*810C>A (n.*810C>A)
c.1150C>A (p.Pro384Thr)
c.1147C>A (p.Pro383Thr)
c.983-9564C>A
c.1051C>A (p.Pro351Thr)
c.924C>A
c.892C>A (p.Pro298Thr)
c.309C>A
c.730C>A
c.1026C>A
c.796C>A (p.Pro266Thr)
n.502C>A
n.363C>A
c.600C>A
c.497C>A
c.796C>A
c.1054C>A (p.Pro352Thr)
n.842C>A
c.674-1409C>A
2g.32126999C>GCA346501298SPASTc.*810C>G (n.*810C>G)
c.1150C>G (p.Pro384Ala)
c.1147C>G (p.Pro383Ala)
c.983-9564C>G
c.1051C>G (p.Pro351Ala)
c.924C>G
c.892C>G (p.Pro298Ala)
c.309C>G
c.730C>G
c.1026C>G
c.796C>G (p.Pro266Ala)
n.502C>G
n.363C>G
c.600C>G
c.497C>G
c.796C>G
c.1054C>G (p.Pro352Ala)
n.842C>G
c.674-1409C>G
2g.32126999C>TCA346501299SPASTc.*810C>T (n.*810C>T)
c.1150C>T (p.Pro384Ser)
c.1147C>T (p.Pro383Ser)
c.983-9564C>T
c.1051C>T (p.Pro351Ser)
c.924C>T
c.892C>T (p.Pro298Ser)
c.309C>T
c.730C>T
c.1026C>T
c.796C>T (p.Pro266Ser)
n.502C>T
n.363C>T
c.600C>T
c.497C>T
c.796C>T
c.1054C>T (p.Pro352Ser)
n.842C>T
c.674-1409C>T
2g.32127000C>ACA346501301SPASTc.*811C>A (n.*811C>A)
c.1151C>A (p.Pro384His)
c.1148C>A (p.Pro383His)
c.983-9563C>A
c.1052C>A (p.Pro351His)
c.925C>A
c.893C>A (p.Pro298His)
c.310C>A
c.731C>A
c.1027C>A
c.797C>A (p.Pro266His)
n.503C>A
n.364C>A
c.601C>A
c.498C>A
c.797C>A
c.1055C>A (p.Pro352His)
n.843C>A
c.674-1408C>A
2g.32127000C=CA1242497418SPASTc.*811C= (n.*811C=)
c.1151C= (p.Pro384=)
c.1148C= (p.Pro383=)
c.983-9563C=
c.1052C= (p.Pro351=)
c.925C=
c.893C= (p.Pro298=)
c.310C=
c.731C=
c.1027C=
c.797C= (p.Pro266=)
n.503C=
n.364C=
c.601C=
c.498C=
c.797C=
c.1055C= (p.Pro352=)
n.843C=
c.674-1408C=
2g.32127000C>GCA346501302SPASTc.*811C>G (n.*811C>G)
c.1151C>G (p.Pro384Arg)
c.1148C>G (p.Pro383Arg)
c.983-9563C>G
c.1052C>G (p.Pro351Arg)
c.925C>G
c.893C>G (p.Pro298Arg)
c.310C>G
c.731C>G
c.1027C>G
c.797C>G (p.Pro266Arg)
n.503C>G
n.364C>G
c.601C>G
c.498C>G
c.797C>G
c.1055C>G (p.Pro352Arg)
n.843C>G
c.674-1408C>G
 ClinVar dbSNP
2g.32127000C>TCA346501303SPASTc.*811C>T (n.*811C>T)
c.1151C>T (p.Pro384Leu)
c.1148C>T (p.Pro383Leu)
c.983-9563C>T
c.1052C>T (p.Pro351Leu)
c.925C>T
c.893C>T (p.Pro298Leu)
c.310C>T
c.731C>T
c.1027C>T
c.797C>T (p.Pro266Leu)
n.503C>T
n.364C>T
c.601C>T
c.498C>T
c.797C>T
c.1055C>T (p.Pro352Leu)
n.843C>T
c.674-1408C>T
 ClinVar dbSNP
2g.32127001T>ACA425446628SPASTc.*812T>A (n.*812T>A)
c.1152T>A (p.Pro384=)
c.1149T>A (p.Pro383=)
c.983-9562T>A
c.1053T>A (p.Pro351=)
c.926T>A
c.894T>A (p.Pro298=)
c.311T>A
c.732T>A
c.1028T>A
c.798T>A (p.Pro266=)
n.504T>A
n.365T>A
c.602T>A
c.499T>A
c.798T>A
c.1056T>A (p.Pro352=)
n.844T>A
c.674-1407T>A
2g.32127001T>CCA1600809SPASTc.*812T>C (n.*812T>C)
c.1152T>C (p.Pro384=)
c.1149T>C (p.Pro383=)
c.983-9562T>C
c.1053T>C (p.Pro351=)
c.926T>C
c.894T>C (p.Pro298=)
c.311T>C
c.732T>C
c.1028T>C
c.798T>C (p.Pro266=)
n.504T>C
n.365T>C
c.602T>C
c.499T>C
c.798T>C
c.1056T>C (p.Pro352=)
n.844T>C
c.674-1407T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127001T>GCA425446629SPASTc.*812T>G (n.*812T>G)
c.1152T>G (p.Pro384=)
c.1149T>G (p.Pro383=)
c.983-9562T>G
c.1053T>G (p.Pro351=)
c.926T>G
c.894T>G (p.Pro298=)
c.311T>G
c.732T>G
c.1028T>G
c.798T>G (p.Pro266=)
n.504T>G
n.365T>G
c.602T>G
c.499T>G
c.798T>G
c.1056T>G (p.Pro352=)
n.844T>G
c.674-1407T>G
2g.32127001T=CA1242497419SPASTc.*812T= (n.*812T=)
c.1152T= (p.Pro384=)
c.1149T= (p.Pro383=)
c.983-9562T=
c.1053T= (p.Pro351=)
c.926T=
c.894T= (p.Pro298=)
c.311T=
c.732T=
c.1028T=
c.798T= (p.Pro266=)
n.504T=
n.365T=
c.602T=
c.499T=
c.798T=
c.1056T= (p.Pro352=)
n.844T=
c.674-1407T=
2g.32127002G>ACA346501304SPASTc.*813G>A (n.*813G>A)
c.1153G>A (p.Gly385Arg)
c.1150G>A (p.Gly384Arg)
c.983-9561G>A
c.1054G>A (p.Gly352Arg)
c.927G>A
c.895G>A (p.Gly299Arg)
c.312G>A
c.733G>A
c.1029G>A
c.799G>A (p.Gly267Arg)
n.505G>A
n.366G>A
c.603G>A
c.500G>A
c.799G>A
c.1057G>A (p.Gly353Arg)
n.845G>A
c.674-1406G>A
 ClinVar
2g.32127002G>CCA346501305SPASTc.*813G>C (n.*813G>C)
c.1153G>C (p.Gly385Arg)
c.1150G>C (p.Gly384Arg)
c.983-9561G>C
c.1054G>C (p.Gly352Arg)
c.927G>C
c.895G>C (p.Gly299Arg)
c.312G>C
c.733G>C
c.1029G>C
c.799G>C (p.Gly267Arg)
n.505G>C
n.366G>C
c.603G>C
c.500G>C
c.799G>C
c.1057G>C (p.Gly353Arg)
n.845G>C
c.674-1406G>C
2g.32127002G>TCA346501306SPASTc.*813G>T (n.*813G>T)
c.1153G>T (p.Gly385Trp)
c.1150G>T (p.Gly384Trp)
c.983-9561G>T
c.1054G>T (p.Gly352Trp)
c.927G>T
c.895G>T (p.Gly299Trp)
c.312G>T
c.733G>T
c.1029G>T
c.799G>T (p.Gly267Trp)
n.505G>T
n.366G>T
c.603G>T
c.500G>T
c.799G>T
c.1057G>T (p.Gly353Trp)
n.845G>T
c.674-1406G>T
 ClinVar dbSNP
2g.32127004delCA2576930326SPASTc.*815del (n.*815del)
c.1155del (p.Asn386MetfsTer10)
c.1152del (p.Asn385MetfsTer10)
c.983-9559del
c.1056del (p.Asn353MetfsTer10)
c.929del
c.897del (p.Asn300MetfsTer10)
c.314del
c.735del
c.1031del
c.801del (p.Asn268MetfsTer10)
n.507del
n.368del
c.605del
c.502del
c.801del
c.1059del (p.Asn354MetfsTer10)
n.847del
c.674-1404del
2g.32127003G>ACA346501307SPASTc.*814G>A (n.*814G>A)
c.1154G>A (p.Gly385Glu)
c.1151G>A (p.Gly384Glu)
c.983-9560G>A
c.1055G>A (p.Gly352Glu)
c.928G>A
c.896G>A (p.Gly299Glu)
c.313G>A
c.734G>A
c.1030G>A
c.800G>A (p.Gly267Glu)
n.506G>A
n.367G>A
c.604G>A
c.501G>A
c.800G>A
c.1058G>A (p.Gly353Glu)
n.846G>A
c.674-1405G>A
 dbSNP
2g.32127003G>CCA346501308SPASTc.*814G>C (n.*814G>C)
c.1154G>C (p.Gly385Ala)
c.1151G>C (p.Gly384Ala)
c.983-9560G>C
c.1055G>C (p.Gly352Ala)
c.928G>C
c.896G>C (p.Gly299Ala)
c.313G>C
c.734G>C
c.1030G>C
c.800G>C (p.Gly267Ala)
n.506G>C
n.367G>C
c.604G>C
c.501G>C
c.800G>C
c.1058G>C (p.Gly353Ala)
n.846G>C
c.674-1405G>C
2g.32127003G=CA1242497420SPASTc.*814G= (n.*814G=)
c.1154G= (p.Gly385=)
c.1151G= (p.Gly384=)
c.983-9560G=
c.1055G= (p.Gly352=)
c.928G=
c.896G= (p.Gly299=)
c.313G=
c.734G=
c.1030G=
c.800G= (p.Gly267=)
n.506G=
n.367G=
c.604G=
c.501G=
c.800G=
c.1058G= (p.Gly353=)
n.846G=
c.674-1405G=
2g.32127003G>TCA346501309SPASTc.*814G>T (n.*814G>T)
c.1154G>T (p.Gly385Val)
c.1151G>T (p.Gly384Val)
c.983-9560G>T
c.1055G>T (p.Gly352Val)
c.928G>T
c.896G>T (p.Gly299Val)
c.313G>T
c.734G>T
c.1030G>T
c.800G>T (p.Gly267Val)
n.506G>T
n.367G>T
c.604G>T
c.501G>T
c.800G>T
c.1058G>T (p.Gly353Val)
n.846G>T
c.674-1405G>T
2g.32127004G>ACA1600810SPASTc.*815G>A (n.*815G>A)
c.1155G>A (p.Gly385=)
c.1152G>A (p.Gly384=)
c.983-9559G>A
c.1056G>A (p.Gly352=)
c.929G>A
c.897G>A (p.Gly299=)
c.314G>A
c.735G>A
c.1031G>A
c.801G>A (p.Gly267=)
n.507G>A
n.368G>A
c.605G>A
c.502G>A
c.801G>A
c.1059G>A (p.Gly353=)
n.847G>A
c.674-1404G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127004G>CCA425446633SPASTc.*815G>C (n.*815G>C)
c.1155G>C (p.Gly385=)
c.1152G>C (p.Gly384=)
c.983-9559G>C
c.1056G>C (p.Gly352=)
c.929G>C
c.897G>C (p.Gly299=)
c.314G>C
c.735G>C
c.1031G>C
c.801G>C (p.Gly267=)
n.507G>C
n.368G>C
c.605G>C
c.502G>C
c.801G>C
c.1059G>C (p.Gly353=)
n.847G>C
c.674-1404G>C
 gnomAD v4
2g.32127004G=CA1242497421SPASTc.*815G= (n.*815G=)
c.1155G= (p.Gly385=)
c.1152G= (p.Gly384=)
c.983-9559G=
c.1056G= (p.Gly352=)
c.929G=
c.897G= (p.Gly299=)
c.314G=
c.735G=
c.1031G=
c.801G= (p.Gly267=)
n.507G=
n.368G=
c.605G=
c.502G=
c.801G=
c.1059G= (p.Gly353=)
n.847G=
c.674-1404G=
2g.32127004G>TCA425446635SPASTc.*815G>T (n.*815G>T)
c.1155G>T (p.Gly385=)
c.1152G>T (p.Gly384=)
c.983-9559G>T
c.1056G>T (p.Gly352=)
c.929G>T
c.897G>T (p.Gly299=)
c.314G>T
c.735G>T
c.1031G>T
c.801G>T (p.Gly267=)
n.507G>T
n.368G>T
c.605G>T
c.502G>T
c.801G>T
c.1059G>T (p.Gly353=)
n.847G>T
c.674-1404G>T
 gnomAD v4
2g.32127005A>CCA346501311SPASTc.*816A>C (n.*816A>C)
c.1156A>C (p.Asn386His)
c.1153A>C (p.Asn385His)
c.983-9558A>C
c.1057A>C (p.Asn353His)
c.930A>C
c.898A>C (p.Asn300His)
c.315A>C
c.736A>C
c.1032A>C
c.802A>C (p.Asn268His)
n.508A>C
n.369A>C
c.606A>C
c.503A>C
c.802A>C
c.1060A>C (p.Asn354His)
n.848A>C
c.674-1403A>C
2g.32127005A>GCA346501312SPASTc.*816A>G (n.*816A>G)
c.1156A>G (p.Asn386Asp)
c.1153A>G (p.Asn385Asp)
c.983-9558A>G
c.1057A>G (p.Asn353Asp)
c.930A>G
c.898A>G (p.Asn300Asp)
c.315A>G
c.736A>G
c.1032A>G
c.802A>G (p.Asn268Asp)
n.508A>G
n.369A>G
c.606A>G
c.503A>G
c.802A>G
c.1060A>G (p.Asn354Asp)
n.848A>G
c.674-1403A>G
2g.32127005A>TCA346501310SPASTc.*816A>T (n.*816A>T)
c.1156A>T (p.Asn386Tyr)
c.1153A>T (p.Asn385Tyr)
c.983-9558A>T
c.1057A>T (p.Asn353Tyr)
c.930A>T
c.898A>T (p.Asn300Tyr)
c.315A>T
c.736A>T
c.1032A>T
c.802A>T (p.Asn268Tyr)
n.508A>T
n.369A>T
c.606A>T
c.503A>T
c.802A>T
c.1060A>T (p.Asn354Tyr)
n.848A>T
c.674-1403A>T
2g.32127009_32127019delCA2586964682SPASTc.*820_*830del (n.*820_*830del)
c.1160_1170del (p.Gly387AlafsTer3)
c.1157_1167del (p.Gly386AlafsTer3)
c.983-9554_983-9544del
c.1061_1071del (p.Gly354AlafsTer3)
c.934_944del
c.902_912del (p.Gly301AlafsTer3)
c.319_329del
c.740_750del
c.1036_1046del
c.806_816del (p.Gly269AlafsTer3)
n.512_522del
n.373_383del
c.610_620del
c.507_517del
c.806_816del
c.1064_1074del (p.Gly355AlafsTer3)
n.852_862del
c.674-1399_674-1389del
2g.32127006A=CA1242497422SPASTc.*817A= (n.*817A=)
c.1157A= (p.Asn386=)
c.1154A= (p.Asn385=)
c.983-9557A=
c.1058A= (p.Asn353=)
c.931A=
c.899A= (p.Asn300=)
c.316A=
c.737A=
c.1033A=
c.803A= (p.Asn268=)
n.509A=
n.370A=
c.607A=
c.504A=
c.803A=
c.1061A= (p.Asn354=)
n.849A=
c.674-1402A=
2g.32127006A>CCA346501313SPASTc.*817A>C (n.*817A>C)
c.1157A>C (p.Asn386Thr)
c.1154A>C (p.Asn385Thr)
c.983-9557A>C
c.1058A>C (p.Asn353Thr)
c.931A>C
c.899A>C (p.Asn300Thr)
c.316A>C
c.737A>C
c.1033A>C
c.803A>C (p.Asn268Thr)
n.509A>C
n.370A>C
c.607A>C
c.504A>C
c.803A>C
c.1061A>C (p.Asn354Thr)
n.849A>C
c.674-1402A>C
2g.32127006A>GCA253562SPASTc.*817A>G (n.*817A>G)
c.1157A>G (p.Asn386Ser)
c.1154A>G (p.Asn385Ser)
c.983-9557A>G
c.1058A>G (p.Asn353Ser)
c.931A>G
c.899A>G (p.Asn300Ser)
c.316A>G
c.737A>G
c.1033A>G
c.803A>G (p.Asn268Ser)
n.509A>G
n.370A>G
c.607A>G
c.504A>G
c.803A>G
c.1061A>G (p.Asn354Ser)
n.849A>G
c.674-1402A>G
 ClinVar dbSNP
2g.32127006A>TCA346501314SPASTc.*817A>T (n.*817A>T)
c.1157A>T (p.Asn386Ile)
c.1154A>T (p.Asn385Ile)
c.983-9557A>T
c.1058A>T (p.Asn353Ile)
c.931A>T
c.899A>T (p.Asn300Ile)
c.316A>T
c.737A>T
c.1033A>T
c.803A>T (p.Asn268Ile)
n.509A>T
n.370A>T
c.607A>T
c.504A>T
c.803A>T
c.1061A>T (p.Asn354Ile)
n.849A>T
c.674-1402A>T
2g.32127007T>ACA346501315SPASTc.*818T>A (n.*818T>A)
c.1158T>A (p.Asn386Lys)
c.1155T>A (p.Asn385Lys)
c.983-9556T>A
c.1059T>A (p.Asn353Lys)
c.932T>A
c.900T>A (p.Asn300Lys)
c.317T>A
c.738T>A
c.1034T>A
c.804T>A (p.Asn268Lys)
n.510T>A
n.371T>A
c.608T>A
c.505T>A
c.804T>A
c.1062T>A (p.Asn354Lys)
n.850T>A
c.674-1401T>A
2g.32127007T>CCA425446637SPASTc.*818T>C (n.*818T>C)
c.1158T>C (p.Asn386=)
c.1155T>C (p.Asn385=)
c.983-9556T>C
c.1059T>C (p.Asn353=)
c.932T>C
c.900T>C (p.Asn300=)
c.317T>C
c.738T>C
c.1034T>C
c.804T>C (p.Asn268=)
n.510T>C
n.371T>C
c.608T>C
c.505T>C
c.804T>C
c.1062T>C (p.Asn354=)
n.850T>C
c.674-1401T>C
2g.32127007T>GCA346501316SPASTc.*818T>G (n.*818T>G)
c.1158T>G (p.Asn386Lys)
c.1155T>G (p.Asn385Lys)
c.983-9556T>G
c.1059T>G (p.Asn353Lys)
c.932T>G
c.900T>G (p.Asn300Lys)
c.317T>G
c.738T>G
c.1034T>G
c.804T>G (p.Asn268Lys)
n.510T>G
n.371T>G
c.608T>G
c.505T>G
c.804T>G
c.1062T>G (p.Asn354Lys)
n.850T>G
c.674-1401T>G
 dbSNP
2g.32127007T=CA1242497423SPASTc.*818T= (n.*818T=)
c.1158T= (p.Asn386=)
c.1155T= (p.Asn385=)
c.983-9556T=
c.1059T= (p.Asn353=)
c.932T=
c.900T= (p.Asn300=)
c.317T=
c.738T=
c.1034T=
c.804T= (p.Asn268=)
n.510T=
n.371T=
c.608T=
c.505T=
c.804T=
c.1062T= (p.Asn354=)
n.850T=
c.674-1401T=
2g.32127008G>ACA346501317SPASTc.*819G>A (n.*819G>A)
c.1159G>A (p.Gly387Arg)
c.1156G>A (p.Gly386Arg)
c.983-9555G>A
c.1060G>A (p.Gly354Arg)
c.933G>A
c.901G>A (p.Gly301Arg)
c.318G>A
c.739G>A
c.1035G>A
c.805G>A (p.Gly269Arg)
n.511G>A
n.372G>A
c.609G>A
c.506G>A
c.805G>A
c.1063G>A (p.Gly355Arg)
n.851G>A
c.674-1400G>A
 ClinVar dbSNP
2g.32127008G>CCA346501318SPASTc.*819G>C (n.*819G>C)
c.1159G>C (p.Gly387Arg)
c.1156G>C (p.Gly386Arg)
c.983-9555G>C
c.1060G>C (p.Gly354Arg)
c.933G>C
c.901G>C (p.Gly301Arg)
c.318G>C
c.739G>C
c.1035G>C
c.805G>C (p.Gly269Arg)
n.511G>C
n.372G>C
c.609G>C
c.506G>C
c.805G>C
c.1063G>C (p.Gly355Arg)
n.851G>C
c.674-1400G>C
2g.32127008G=CA1242497424SPASTc.*819G= (n.*819G=)
c.1159G= (p.Gly387=)
c.1156G= (p.Gly386=)
c.983-9555G=
c.1060G= (p.Gly354=)
c.933G=
c.901G= (p.Gly301=)
c.318G=
c.739G=
c.1035G=
c.805G= (p.Gly269=)
n.511G=
n.372G=
c.609G=
c.506G=
c.805G=
c.1063G= (p.Gly355=)
n.851G=
c.674-1400G=
2g.32127008G>TCA346501319SPASTc.*819G>T (n.*819G>T)
c.1159G>T (p.Gly387Trp)
c.1156G>T (p.Gly386Trp)
c.983-9555G>T
c.1060G>T (p.Gly354Trp)
c.933G>T
c.901G>T (p.Gly301Trp)
c.318G>T
c.739G>T
c.1035G>T
c.805G>T (p.Gly269Trp)
n.511G>T
n.372G>T
c.609G>T
c.506G>T
c.805G>T
c.1063G>T (p.Gly355Trp)
n.851G>T
c.674-1400G>T
2g.32127009G>ACA346501320SPASTc.*820G>A (n.*820G>A)
c.1160G>A (p.Gly387Glu)
c.1157G>A (p.Gly386Glu)
c.983-9554G>A
c.1061G>A (p.Gly354Glu)
c.934G>A
c.902G>A (p.Gly301Glu)
c.319G>A
c.740G>A
c.1036G>A
c.806G>A (p.Gly269Glu)
n.512G>A
n.373G>A
c.610G>A
c.507G>A
c.806G>A
c.1064G>A (p.Gly355Glu)
n.852G>A
c.674-1399G>A
2g.32127009G>CCA346501321SPASTc.*820G>C (n.*820G>C)
c.1160G>C (p.Gly387Ala)
c.1157G>C (p.Gly386Ala)
c.983-9554G>C
c.1061G>C (p.Gly354Ala)
c.934G>C
c.902G>C (p.Gly301Ala)
c.319G>C
c.740G>C
c.1036G>C
c.806G>C (p.Gly269Ala)
n.512G>C
n.373G>C
c.610G>C
c.507G>C
c.806G>C
c.1064G>C (p.Gly355Ala)
n.852G>C
c.674-1399G>C
2g.32127009G>TCA346501322SPASTc.*820G>T (n.*820G>T)
c.1160G>T (p.Gly387Val)
c.1157G>T (p.Gly386Val)
c.983-9554G>T
c.1061G>T (p.Gly354Val)
c.934G>T
c.902G>T (p.Gly301Val)
c.319G>T
c.740G>T
c.1036G>T
c.806G>T (p.Gly269Val)
n.512G>T
n.373G>T
c.610G>T
c.507G>T
c.806G>T
c.1064G>T (p.Gly355Val)
n.852G>T
c.674-1399G>T
2g.32127010_32127019delCA2586964685SPASTc.*821_*830del (n.*821_*830del)
c.1161_1170del (p.Lys388TrpfsTer5)
c.1158_1167del (p.Lys387TrpfsTer5)
c.983-9553_983-9544del
c.1062_1071del (p.Lys355TrpfsTer5)
c.935_944del
c.903_912del (p.Lys302TrpfsTer5)
c.320_329del
c.741_750del
c.1037_1046del
c.807_816del (p.Lys270TrpfsTer5)
n.513_522del
n.374_383del
c.611_620del
c.508_517del
c.807_816del
c.1065_1074del (p.Lys356TrpfsTer5)
n.853_862del
c.674-1398_674-1389del
2g.32127010G>ACA425446639SPASTc.*821G>A (n.*821G>A)
c.1161G>A (p.Gly387=)
c.1158G>A (p.Gly386=)
c.983-9553G>A
c.1062G>A (p.Gly354=)
c.935G>A
c.903G>A (p.Gly301=)
c.320G>A
c.741G>A
c.1037G>A
c.807G>A (p.Gly269=)
n.513G>A
n.374G>A
c.611G>A
c.508G>A
c.807G>A
c.1065G>A (p.Gly355=)
n.853G>A
c.674-1398G>A
2g.32127010G>CCA1600811SPASTc.*821G>C (n.*821G>C)
c.1161G>C (p.Gly387=)
c.1158G>C (p.Gly386=)
c.983-9553G>C
c.1062G>C (p.Gly354=)
c.935G>C
c.903G>C (p.Gly301=)
c.320G>C
c.741G>C
c.1037G>C
c.807G>C (p.Gly269=)
n.513G>C
n.374G>C
c.611G>C
c.508G>C
c.807G>C
c.1065G>C (p.Gly355=)
n.853G>C
c.674-1398G>C
 dbSNP ExAC gnomAD v4
2g.32127010G=CA1242497425SPASTc.*821G= (n.*821G=)
c.1161G= (p.Gly387=)
c.1158G= (p.Gly386=)
c.983-9553G=
c.1062G= (p.Gly354=)
c.935G=
c.903G= (p.Gly301=)
c.320G=
c.741G=
c.1037G=
c.807G= (p.Gly269=)
n.513G=
n.374G=
c.611G=
c.508G=
c.807G=
c.1065G= (p.Gly355=)
n.853G=
c.674-1398G=
2g.32127010G>TCA425446640SPASTc.*821G>T (n.*821G>T)
c.1161G>T (p.Gly387=)
c.1158G>T (p.Gly386=)
c.983-9553G>T
c.1062G>T (p.Gly354=)
c.935G>T
c.903G>T (p.Gly301=)
c.320G>T
c.741G>T
c.1037G>T
c.807G>T (p.Gly269=)
n.513G>T
n.374G>T
c.611G>T
c.508G>T
c.807G>T
c.1065G>T (p.Gly355=)
n.853G>T
c.674-1398G>T
2g.32127011A>CCA346501324SPASTc.*822A>C (n.*822A>C)
c.1162A>C (p.Lys388Gln)
c.1159A>C (p.Lys387Gln)
c.983-9552A>C
c.1063A>C (p.Lys355Gln)
c.936A>C
c.904A>C (p.Lys302Gln)
c.321A>C
c.742A>C
c.1038A>C
c.808A>C (p.Lys270Gln)
n.514A>C
n.375A>C
c.612A>C
c.509A>C
c.808A>C
c.1066A>C (p.Lys356Gln)
n.854A>C
c.674-1397A>C
2g.32127011A>GCA346501325SPASTc.*822A>G (n.*822A>G)
c.1162A>G (p.Lys388Glu)
c.1159A>G (p.Lys387Glu)
c.983-9552A>G
c.1063A>G (p.Lys355Glu)
c.936A>G
c.904A>G (p.Lys302Glu)
c.321A>G
c.742A>G
c.1038A>G
c.808A>G (p.Lys270Glu)
n.514A>G
n.375A>G
c.612A>G
c.509A>G
c.808A>G
c.1066A>G (p.Lys356Glu)
n.854A>G
c.674-1397A>G
2g.32127011A>TCA346501323SPASTc.*822A>T (n.*822A>T)
c.1162A>T (p.Lys388Ter)
c.1159A>T (p.Lys387Ter)
c.983-9552A>T
c.1063A>T (p.Lys355Ter)
c.936A>T
c.904A>T (p.Lys302Ter)
c.321A>T
c.742A>T
c.1038A>T
c.808A>T (p.Lys270Ter)
n.514A>T
n.375A>T
c.612A>T
c.509A>T
c.808A>T
c.1066A>T (p.Lys356Ter)
n.854A>T
c.674-1397A>T
2g.32127012delCA2586964687SPASTc.*823del (n.*823del)
c.1163del (p.Lys388ArgfsTer8)
c.1160del (p.Lys387ArgfsTer8)
c.983-9551del
c.1064del (p.Lys355ArgfsTer8)
c.937del
c.905del (p.Lys302ArgfsTer8)
c.322del
c.743del
c.1039del
c.809del (p.Lys270ArgfsTer8)
n.515del
n.376del
c.613del
c.510del
c.809del
c.1067del (p.Lys356ArgfsTer8)
n.855del
c.674-1396del
2g.32127012A=CA1242497426SPASTc.*823A= (n.*823A=)
c.1163A= (p.Lys388=)
c.1160A= (p.Lys387=)
c.983-9551A=
c.1064A= (p.Lys355=)
c.937A=
c.905A= (p.Lys302=)
c.322A=
c.743A=
c.1039A=
c.809A= (p.Lys270=)
n.515A=
n.376A=
c.613A=
c.510A=
c.809A=
c.1067A= (p.Lys356=)
n.855A=
c.674-1396A=
2g.32127012A>CCA346501326SPASTc.*823A>C (n.*823A>C)
c.1163A>C (p.Lys388Thr)
c.1160A>C (p.Lys387Thr)
c.983-9551A>C
c.1064A>C (p.Lys355Thr)
c.937A>C
c.905A>C (p.Lys302Thr)
c.322A>C
c.743A>C
c.1039A>C
c.809A>C (p.Lys270Thr)
n.515A>C
n.376A>C
c.613A>C
c.510A>C
c.809A>C
c.1067A>C (p.Lys356Thr)
n.855A>C
c.674-1396A>C
2g.32127012A>GCA346501327SPASTc.*823A>G (n.*823A>G)
c.1163A>G (p.Lys388Arg)
c.1160A>G (p.Lys387Arg)
c.983-9551A>G
c.1064A>G (p.Lys355Arg)
c.937A>G
c.905A>G (p.Lys302Arg)
c.322A>G
c.743A>G
c.1039A>G
c.809A>G (p.Lys270Arg)
n.515A>G
n.376A>G
c.613A>G
c.510A>G
c.809A>G
c.1067A>G (p.Lys356Arg)
n.855A>G
c.674-1396A>G
 ClinVar dbSNP
2g.32127012A>TCA346501328SPASTc.*823A>T (n.*823A>T)
c.1163A>T (p.Lys388Met)
c.1160A>T (p.Lys387Met)
c.983-9551A>T
c.1064A>T (p.Lys355Met)
c.937A>T
c.905A>T (p.Lys302Met)
c.322A>T
c.743A>T
c.1039A>T
c.809A>T (p.Lys270Met)
n.515A>T
n.376A>T
c.613A>T
c.510A>T
c.809A>T
c.1067A>T (p.Lys356Met)
n.855A>T
c.674-1396A>T
2g.32127013G>ACA425446641SPASTc.*824G>A (n.*824G>A)
c.1164G>A (p.Lys388=)
c.1161G>A (p.Lys387=)
c.983-9550G>A
c.1065G>A (p.Lys355=)
c.938G>A
c.906G>A (p.Lys302=)
c.323G>A
c.744G>A
c.1040G>A
c.810G>A (p.Lys270=)
n.516G>A
n.377G>A
c.614G>A
c.511G>A
c.810G>A
c.1068G>A (p.Lys356=)
n.856G>A
c.674-1395G>A
2g.32127013G>CCA346501329SPASTc.*824G>C (n.*824G>C)
c.1164G>C (p.Lys388Asn)
c.1161G>C (p.Lys387Asn)
c.983-9550G>C
c.1065G>C (p.Lys355Asn)
c.938G>C
c.906G>C (p.Lys302Asn)
c.323G>C
c.744G>C
c.1040G>C
c.810G>C (p.Lys270Asn)
n.516G>C
n.377G>C
c.614G>C
c.511G>C
c.810G>C
c.1068G>C (p.Lys356Asn)
n.856G>C
c.674-1395G>C
 ClinVar dbSNP
2g.32127013G=CA1242497427SPASTc.*824G= (n.*824G=)
c.1164G= (p.Lys388=)
c.1161G= (p.Lys387=)
c.983-9550G=
c.1065G= (p.Lys355=)
c.938G=
c.906G= (p.Lys302=)
c.323G=
c.744G=
c.1040G=
c.810G= (p.Lys270=)
n.516G=
n.377G=
c.614G=
c.511G=
c.810G=
c.1068G= (p.Lys356=)
n.856G=
c.674-1395G=
2g.32127013G>TCA346501330SPASTc.*824G>T (n.*824G>T)
c.1164G>T (p.Lys388Asn)
c.1161G>T (p.Lys387Asn)
c.983-9550G>T
c.1065G>T (p.Lys355Asn)
c.938G>T
c.906G>T (p.Lys302Asn)
c.323G>T
c.744G>T
c.1040G>T
c.810G>T (p.Lys270Asn)
n.516G>T
n.377G>T
c.614G>T
c.511G>T
c.810G>T
c.1068G>T (p.Lys356Asn)
n.856G>T
c.674-1395G>T
 ClinVar dbSNP
2g.32127014A=CA1242497428SPASTc.*825A= (n.*825A=)
c.1165A= (p.Thr389=)
c.1162A= (p.Thr388=)
c.983-9549A=
c.1066A= (p.Thr356=)
c.939A=
c.907A= (p.Thr303=)
c.324A=
c.745A=
c.1041A=
c.811A= (p.Thr271=)
n.517A=
n.378A=
c.615A=
c.512A=
c.811A=
c.1069A= (p.Thr357=)
n.857A=
c.674-1394A=
2g.32127014A>CCA346501332SPASTc.*825A>C (n.*825A>C)
c.1165A>C (p.Thr389Pro)
c.1162A>C (p.Thr388Pro)
c.983-9549A>C
c.1066A>C (p.Thr356Pro)
c.939A>C
c.907A>C (p.Thr303Pro)
c.324A>C
c.745A>C
c.1041A>C
c.811A>C (p.Thr271Pro)
n.517A>C
n.378A>C
c.615A>C
c.512A>C
c.811A>C
c.1069A>C (p.Thr357Pro)
n.857A>C
c.674-1394A>C
2g.32127014A>GCA334274SPASTc.*825A>G (n.*825A>G)
c.1165A>G (p.Thr389Ala)
c.1162A>G (p.Thr388Ala)
c.983-9549A>G
c.1066A>G (p.Thr356Ala)
c.939A>G
c.907A>G (p.Thr303Ala)
c.324A>G
c.745A>G
c.1041A>G
c.811A>G (p.Thr271Ala)
n.517A>G
n.378A>G
c.615A>G
c.512A>G
c.811A>G
c.1069A>G (p.Thr357Ala)
n.857A>G
c.674-1394A>G
 ClinVar dbSNP
2g.32127014A>TCA346501331SPASTc.*825A>T (n.*825A>T)
c.1165A>T (p.Thr389Ser)
c.1162A>T (p.Thr388Ser)
c.983-9549A>T
c.1066A>T (p.Thr356Ser)
c.939A>T
c.907A>T (p.Thr303Ser)
c.324A>T
c.745A>T
c.1041A>T
c.811A>T (p.Thr271Ser)
n.517A>T
n.378A>T
c.615A>T
c.512A>T
c.811A>T
c.1069A>T (p.Thr357Ser)
n.857A>T
c.674-1394A>T

Number of alleles fetched