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.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
2g.32127015C>ACA346501333SPASTc.*826C>A (n.*826C>A)
c.1166C>A (p.Thr389Lys)
c.1163C>A (p.Thr388Lys)
c.983-9548C>A
c.1067C>A (p.Thr356Lys)
c.940C>A
c.908C>A (p.Thr303Lys)
c.325C>A
c.746C>A
c.1042C>A
c.812C>A (p.Thr271Lys)
n.518C>A
n.379C>A
c.616C>A
c.513C>A
c.812C>A
c.1070C>A (p.Thr357Lys)
n.858C>A
c.674-1393C>A
 gnomAD v4
2g.32127015C>GCA346501334SPASTc.*826C>G (n.*826C>G)
c.1166C>G (p.Thr389Arg)
c.1163C>G (p.Thr388Arg)
c.983-9548C>G
c.1067C>G (p.Thr356Arg)
c.940C>G
c.908C>G (p.Thr303Arg)
c.325C>G
c.746C>G
c.1042C>G
c.812C>G (p.Thr271Arg)
n.518C>G
n.379C>G
c.616C>G
c.513C>G
c.812C>G
c.1070C>G (p.Thr357Arg)
n.858C>G
c.674-1393C>G
2g.32127015C>TCA346501335SPASTc.*826C>T (n.*826C>T)
c.1166C>T (p.Thr389Ile)
c.1163C>T (p.Thr388Ile)
c.983-9548C>T
c.1067C>T (p.Thr356Ile)
c.940C>T
c.908C>T (p.Thr303Ile)
c.325C>T
c.746C>T
c.1042C>T
c.812C>T (p.Thr271Ile)
n.518C>T
n.379C>T
c.616C>T
c.513C>T
c.812C>T
c.1070C>T (p.Thr357Ile)
n.858C>T
c.674-1393C>T
 ClinVar
2g.32127015_32127017delinsCAACA1242497429SPASTc.*826_*828delinsCAA (n.*826_*828delinsCAA)
c.1166_1168delinsCAA (p.Thr389=)
c.1163_1165delinsCAA (p.Thr388=)
c.983-9548_983-9546delinsCAA
c.1067_1069delinsCAA (p.Thr356=)
c.940_942delinsCAA
c.908_910delinsCAA (p.Thr303=)
c.325_327delinsCAA
c.746_748delinsCAA
c.1042_1044delinsCAA
c.812_814delinsCAA (p.Thr271=)
n.518_520delinsCAA
n.379_381delinsCAA
c.616_618delinsCAA
c.513_515delinsCAA
c.812_814delinsCAA
c.1070_1072delinsCAA (p.Thr357=)
n.858_860delinsCAA
c.674-1393_674-1391delinsCAA
2g.32127016A>CCA425446644SPASTc.*827A>C (n.*827A>C)
c.1167A>C (p.Thr389=)
c.1164A>C (p.Thr388=)
c.983-9547A>C
c.1068A>C (p.Thr356=)
c.941A>C
c.909A>C (p.Thr303=)
c.326A>C
c.747A>C
c.1043A>C
c.813A>C (p.Thr271=)
n.519A>C
n.380A>C
c.617A>C
c.514A>C
c.813A>C
c.1071A>C (p.Thr357=)
n.859A>C
c.674-1392A>C
2g.32127016A>GCA425446646SPASTc.*827A>G (n.*827A>G)
c.1167A>G (p.Thr389=)
c.1164A>G (p.Thr388=)
c.983-9547A>G
c.1068A>G (p.Thr356=)
c.941A>G
c.909A>G (p.Thr303=)
c.326A>G
c.747A>G
c.1043A>G
c.813A>G (p.Thr271=)
n.519A>G
n.380A>G
c.617A>G
c.514A>G
c.813A>G
c.1071A>G (p.Thr357=)
n.859A>G
c.674-1392A>G
2g.32127016A>TCA425446647SPASTc.*827A>T (n.*827A>T)
c.1167A>T (p.Thr389=)
c.1164A>T (p.Thr388=)
c.983-9547A>T
c.1068A>T (p.Thr356=)
c.941A>T
c.909A>T (p.Thr303=)
c.326A>T
c.747A>T
c.1043A>T
c.813A>T (p.Thr271=)
n.519A>T
n.380A>T
c.617A>T
c.514A>T
c.813A>T
c.1071A>T (p.Thr357=)
n.859A>T
c.674-1392A>T
2g.32127016_32127017delCA658657022SPASTc.*827_*828del (n.*827_*828del)
c.1167_1168del (p.Met390AlafsTer3)
c.1164_1165del (p.Met389AlafsTer3)
c.983-9547_983-9546del
c.1068_1069del (p.Met357AlafsTer3)
c.941_942del
c.909_910del (p.Met304AlafsTer3)
c.326_327del
c.747_748del
c.1043_1044del
c.813_814del (p.Met272AlafsTer3)
n.519_520del
n.380_381del
c.617_618del
c.514_515del
c.813_814del
c.1071_1072del (p.Met358AlafsTer3)
n.859_860del
c.674-1392_674-1391del
 ClinVar dbSNP
2g.32127017A=CA1242497430SPASTc.*828A= (n.*828A=)
c.1168A= (p.Met390=)
c.1165A= (p.Met389=)
c.983-9546A=
c.1069A= (p.Met357=)
c.942A=
c.910A= (p.Met304=)
c.327A=
c.748A=
c.1044A=
c.814A= (p.Met272=)
n.520A=
n.381A=
c.618A=
c.515A=
c.814A=
c.1072A= (p.Met358=)
n.860A=
c.674-1391A=
2g.32127017A>CCA346501336SPASTc.*828A>C (n.*828A>C)
c.1168A>C (p.Met390Leu)
c.1165A>C (p.Met389Leu)
c.983-9546A>C
c.1069A>C (p.Met357Leu)
c.942A>C
c.910A>C (p.Met304Leu)
c.327A>C
c.748A>C
c.1044A>C
c.814A>C (p.Met272Leu)
n.520A>C
n.381A>C
c.618A>C
c.515A>C
c.814A>C
c.1072A>C (p.Met358Leu)
n.860A>C
c.674-1391A>C
2g.32127017A>GCA204591SPASTc.*828A>G (n.*828A>G)
c.1168A>G (p.Met390Val)
c.1165A>G (p.Met389Val)
c.983-9546A>G
c.1069A>G (p.Met357Val)
c.942A>G
c.910A>G (p.Met304Val)
c.327A>G
c.748A>G
c.1044A>G
c.814A>G (p.Met272Val)
n.520A>G
n.381A>G
c.618A>G
c.515A>G
c.814A>G
c.1072A>G (p.Met358Val)
n.860A>G
c.674-1391A>G
 ClinVar dbSNP
2g.32127017A>TCA346501337SPASTc.*828A>T (n.*828A>T)
c.1168A>T (p.Met390Leu)
c.1165A>T (p.Met389Leu)
c.983-9546A>T
c.1069A>T (p.Met357Leu)
c.942A>T
c.910A>T (p.Met304Leu)
c.327A>T
c.748A>T
c.1044A>T
c.814A>T (p.Met272Leu)
n.520A>T
n.381A>T
c.618A>T
c.515A>T
c.814A>T
c.1072A>T (p.Met358Leu)
n.860A>T
c.674-1391A>T
2g.32127018T>ACA346501338SPASTc.*829T>A (n.*829T>A)
c.1169T>A (p.Met390Lys)
c.1166T>A (p.Met389Lys)
c.983-9545T>A
c.1070T>A (p.Met357Lys)
c.943T>A
c.911T>A (p.Met304Lys)
c.328T>A
c.749T>A
c.1045T>A
c.815T>A (p.Met272Lys)
n.521T>A
n.382T>A
c.619T>A
c.516T>A
c.815T>A
c.1073T>A (p.Met358Lys)
n.861T>A
c.674-1390T>A
 ClinVar dbSNP
2g.32127018T>CCA346501340SPASTc.*829T>C (n.*829T>C)
c.1169T>C (p.Met390Thr)
c.1166T>C (p.Met389Thr)
c.983-9545T>C
c.1070T>C (p.Met357Thr)
c.943T>C
c.911T>C (p.Met304Thr)
c.328T>C
c.749T>C
c.1045T>C
c.815T>C (p.Met272Thr)
n.521T>C
n.382T>C
c.619T>C
c.516T>C
c.815T>C
c.1073T>C (p.Met358Thr)
n.861T>C
c.674-1390T>C
 ClinVar dbSNP
2g.32127018T>GCA346501339SPASTc.*829T>G (n.*829T>G)
c.1169T>G (p.Met390Arg)
c.1166T>G (p.Met389Arg)
c.983-9545T>G
c.1070T>G (p.Met357Arg)
c.943T>G
c.911T>G (p.Met304Arg)
c.328T>G
c.749T>G
c.1045T>G
c.815T>G (p.Met272Arg)
n.521T>G
n.382T>G
c.619T>G
c.516T>G
c.815T>G
c.1073T>G (p.Met358Arg)
n.861T>G
c.674-1390T>G
2g.32127018T=CA1242497431SPASTc.*829T= (n.*829T=)
c.1169T= (p.Met390=)
c.1166T= (p.Met389=)
c.983-9545T=
c.1070T= (p.Met357=)
c.943T=
c.911T= (p.Met304=)
c.328T=
c.749T=
c.1045T=
c.815T= (p.Met272=)
n.521T=
n.382T=
c.619T=
c.516T=
c.815T=
c.1073T= (p.Met358=)
n.861T=
c.674-1390T=
2g.32127019G>ACA346501341SPASTc.*830G>A (n.*830G>A)
c.1170G>A (p.Met390Ile)
c.1167G>A (p.Met389Ile)
c.983-9544G>A
c.1071G>A (p.Met357Ile)
c.944G>A
c.912G>A (p.Met304Ile)
c.329G>A
c.750G>A
c.1046G>A
c.816G>A (p.Met272Ile)
n.522G>A
n.383G>A
c.620G>A
c.517G>A
c.816G>A
c.1074G>A (p.Met358Ile)
n.862G>A
c.674-1389G>A
 ClinVar dbSNP
2g.32127019G>CCA346501343SPASTc.*830G>C (n.*830G>C)
c.1170G>C (p.Met390Ile)
c.1167G>C (p.Met389Ile)
c.983-9544G>C
c.1071G>C (p.Met357Ile)
c.944G>C
c.912G>C (p.Met304Ile)
c.329G>C
c.750G>C
c.1046G>C
c.816G>C (p.Met272Ile)
n.522G>C
n.383G>C
c.620G>C
c.517G>C
c.816G>C
c.1074G>C (p.Met358Ile)
n.862G>C
c.674-1389G>C
2g.32127019G=CA1242497432SPASTc.*830G= (n.*830G=)
c.1170G= (p.Met390=)
c.1167G= (p.Met389=)
c.983-9544G=
c.1071G= (p.Met357=)
c.944G=
c.912G= (p.Met304=)
c.329G=
c.750G=
c.1046G=
c.816G= (p.Met272=)
n.522G=
n.383G=
c.620G=
c.517G=
c.816G=
c.1074G= (p.Met358=)
n.862G=
c.674-1389G=
2g.32127019G>TCA346501342SPASTc.*830G>T (n.*830G>T)
c.1170G>T (p.Met390Ile)
c.1167G>T (p.Met389Ile)
c.983-9544G>T
c.1071G>T (p.Met357Ile)
c.944G>T
c.912G>T (p.Met304Ile)
c.329G>T
c.750G>T
c.1046G>T
c.816G>T (p.Met272Ile)
n.522G>T
n.383G>T
c.620G>T
c.517G>T
c.816G>T
c.1074G>T (p.Met358Ile)
n.862G>T
c.674-1389G>T
2g.32127020C>ACA1600812SPASTc.*831C>A (n.*831C>A)
c.1171C>A (p.Leu391Met)
c.1168C>A (p.Leu390Met)
c.983-9543C>A
c.1072C>A (p.Leu358Met)
c.945C>A
c.913C>A (p.Leu305Met)
c.330C>A
c.751C>A
c.1047C>A
c.817C>A (p.Leu273Met)
n.523C>A
n.384C>A
c.621C>A
c.518C>A
c.817C>A
c.1075C>A (p.Leu359Met)
n.863C>A
c.674-1388C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127020C=CA1242497433SPASTc.*831C= (n.*831C=)
c.1171C= (p.Leu391=)
c.1168C= (p.Leu390=)
c.983-9543C=
c.1072C= (p.Leu358=)
c.945C=
c.913C= (p.Leu305=)
c.330C=
c.751C=
c.1047C=
c.817C= (p.Leu273=)
n.523C=
n.384C=
c.621C=
c.518C=
c.817C=
c.1075C= (p.Leu359=)
n.863C=
c.674-1388C=
2g.32127020C>GCA346501344SPASTc.*831C>G (n.*831C>G)
c.1171C>G (p.Leu391Val)
c.1168C>G (p.Leu390Val)
c.983-9543C>G
c.1072C>G (p.Leu358Val)
c.945C>G
c.913C>G (p.Leu305Val)
c.330C>G
c.751C>G
c.1047C>G
c.817C>G (p.Leu273Val)
n.523C>G
n.384C>G
c.621C>G
c.518C>G
c.817C>G
c.1075C>G (p.Leu359Val)
n.863C>G
c.674-1388C>G
2g.32127020C>TCA425446651SPASTc.*831C>T (n.*831C>T)
c.1171C>T (p.Leu391=)
c.1168C>T (p.Leu390=)
c.983-9543C>T
c.1072C>T (p.Leu358=)
c.945C>T
c.913C>T (p.Leu305=)
c.330C>T
c.751C>T
c.1047C>T
c.817C>T (p.Leu273=)
n.523C>T
n.384C>T
c.621C>T
c.518C>T
c.817C>T
c.1075C>T (p.Leu359=)
n.863C>T
c.674-1388C>T
 gnomAD v4
2g.32127021T>ACA346501345SPASTc.*832T>A (n.*832T>A)
c.1172T>A (p.Leu391Gln)
c.1169T>A (p.Leu390Gln)
c.983-9542T>A
c.1073T>A (p.Leu358Gln)
c.946T>A
c.914T>A (p.Leu305Gln)
c.331T>A
c.752T>A
c.1048T>A
c.818T>A (p.Leu273Gln)
n.524T>A
n.385T>A
c.622T>A
c.519T>A
c.818T>A
c.1076T>A (p.Leu359Gln)
n.864T>A
c.674-1387T>A
 dbSNP
2g.32127021T>CCA346501347SPASTc.*832T>C (n.*832T>C)
c.1172T>C (p.Leu391Pro)
c.1169T>C (p.Leu390Pro)
c.983-9542T>C
c.1073T>C (p.Leu358Pro)
c.946T>C
c.914T>C (p.Leu305Pro)
c.331T>C
c.752T>C
c.1048T>C
c.818T>C (p.Leu273Pro)
n.524T>C
n.385T>C
c.622T>C
c.519T>C
c.818T>C
c.1076T>C (p.Leu359Pro)
n.864T>C
c.674-1387T>C
 dbSNP gnomAD v4
2g.32127021T>GCA346501346SPASTc.*832T>G (n.*832T>G)
c.1172T>G (p.Leu391Arg)
c.1169T>G (p.Leu390Arg)
c.983-9542T>G
c.1073T>G (p.Leu358Arg)
c.946T>G
c.914T>G (p.Leu305Arg)
c.331T>G
c.752T>G
c.1048T>G
c.818T>G (p.Leu273Arg)
n.524T>G
n.385T>G
c.622T>G
c.519T>G
c.818T>G
c.1076T>G (p.Leu359Arg)
n.864T>G
c.674-1387T>G
2g.32127021T=CA1242497434SPASTc.*832T= (n.*832T=)
c.1172T= (p.Leu391=)
c.1169T= (p.Leu390=)
c.983-9542T=
c.1073T= (p.Leu358=)
c.946T=
c.914T= (p.Leu305=)
c.331T=
c.752T=
c.1048T=
c.818T= (p.Leu273=)
n.524T=
n.385T=
c.622T=
c.519T=
c.818T=
c.1076T= (p.Leu359=)
n.864T=
c.674-1387T=
2g.32127022G>ACA425446654SPASTc.*833G>A (n.*833G>A)
c.1173G>A (p.Leu391=)
c.1170G>A (p.Leu390=)
c.983-9541G>A
c.1074G>A (p.Leu358=)
c.947G>A
c.915G>A (p.Leu305=)
c.332G>A
c.753G>A
c.1049G>A
c.819G>A (p.Leu273=)
n.525G>A
n.386G>A
c.623G>A
c.520G>A
c.819G>A
c.1077G>A (p.Leu359=)
n.865G>A
c.674-1386G>A
 ClinVar dbSNP gnomAD v4
2g.32127022G>CCA425446655SPASTc.*833G>C (n.*833G>C)
c.1173G>C (p.Leu391=)
c.1170G>C (p.Leu390=)
c.983-9541G>C
c.1074G>C (p.Leu358=)
c.947G>C
c.915G>C (p.Leu305=)
c.332G>C
c.753G>C
c.1049G>C
c.819G>C (p.Leu273=)
n.525G>C
n.386G>C
c.623G>C
c.520G>C
c.819G>C
c.1077G>C (p.Leu359=)
n.865G>C
c.674-1386G>C
2g.32127022G=CA1242497435SPASTc.*833G= (n.*833G=)
c.1173G= (p.Leu391=)
c.1170G= (p.Leu390=)
c.983-9541G=
c.1074G= (p.Leu358=)
c.947G=
c.915G= (p.Leu305=)
c.332G=
c.753G=
c.1049G=
c.819G= (p.Leu273=)
n.525G=
n.386G=
c.623G=
c.520G=
c.819G=
c.1077G= (p.Leu359=)
n.865G=
c.674-1386G=
2g.32127022G>TCA425446656SPASTc.*833G>T (n.*833G>T)
c.1173G>T (p.Leu391=)
c.1170G>T (p.Leu390=)
c.983-9541G>T
c.1074G>T (p.Leu358=)
c.947G>T
c.915G>T (p.Leu305=)
c.332G>T
c.753G>T
c.1049G>T
c.819G>T (p.Leu273=)
n.525G>T
n.386G>T
c.623G>T
c.520G>T
c.819G>T
c.1077G>T (p.Leu359=)
n.865G>T
c.674-1386G>T
2g.32127023G>ACA16610827SPASTc.*833+1G>A (n.*833+1G>A)
c.1173+1G>A (n.1173+1G>A)
c.1170+1G>A (n.1170+1G>A)
c.983-9540G>A
c.1074+1G>A (n.1074+1G>A)
c.947+1G>A
c.915+1G>A (n.915+1G>A)
c.332+1G>A
c.753+1G>A
c.1049+1G>A
c.819+1G>A (n.819+1G>A)
n.526G>A
n.386+1G>A
c.623+1G>A
c.520+1G>A
c.819+1G>A
c.1077+1G>A (n.1077+1G>A)
n.865+1G>A
c.674-1385G>A
 ClinVar dbSNP
2g.32127023G>CCA346501349SPASTc.*833+1G>C (n.*833+1G>C)
c.1173+1G>C (n.1173+1G>C)
c.1170+1G>C (n.1170+1G>C)
c.983-9540G>C
c.1074+1G>C (n.1074+1G>C)
c.947+1G>C
c.915+1G>C (n.915+1G>C)
c.332+1G>C
c.753+1G>C
c.1049+1G>C
c.819+1G>C (n.819+1G>C)
n.526G>C
n.386+1G>C
c.623+1G>C
c.520+1G>C
c.819+1G>C
c.1077+1G>C (n.1077+1G>C)
n.865+1G>C
c.674-1385G>C
2g.32127023G=CA1242497436SPASTc.*833+1G= (n.*833+1G=)
c.1173+1G= (n.1173+1G=)
c.1170+1G= (n.1170+1G=)
c.983-9540G=
c.1074+1G= (n.1074+1G=)
c.947+1G=
c.915+1G= (n.915+1G=)
c.332+1G=
c.753+1G=
c.1049+1G=
c.819+1G= (n.819+1G=)
n.526G=
n.386+1G=
c.623+1G=
c.520+1G=
c.819+1G=
c.1077+1G= (n.1077+1G=)
n.865+1G=
c.674-1385G=
2g.32127023G>TCA346501348SPASTc.*833+1G>T (n.*833+1G>T)
c.1173+1G>T (n.1173+1G>T)
c.1170+1G>T (n.1170+1G>T)
c.983-9540G>T
c.1074+1G>T (n.1074+1G>T)
c.947+1G>T
c.915+1G>T (n.915+1G>T)
c.332+1G>T
c.753+1G>T
c.1049+1G>T
c.819+1G>T (n.819+1G>T)
n.526G>T
n.386+1G>T
c.623+1G>T
c.520+1G>T
c.819+1G>T
c.1077+1G>T (n.1077+1G>T)
n.865+1G>T
c.674-1385G>T
2g.32127024delCA2576930331SPASTc.*833+2del (n.*833+2del)
c.1173+2del (n.1173+2del)
c.1170+2del (n.1170+2del)
c.983-9539del
c.1074+2del (n.1074+2del)
c.947+2del
c.915+2del (n.915+2del)
c.332+2del
c.753+2del
c.1049+2del
c.819+2del (n.819+2del)
n.527del
n.386+2del
c.623+2del
c.520+2del
c.819+2del
c.1077+2del (n.1077+2del)
n.865+2del
c.674-1384del
2g.32127024T>ACA346501350SPASTc.*833+2T>A (n.*833+2T>A)
c.1173+2T>A (n.1173+2T>A)
c.1170+2T>A (n.1170+2T>A)
c.983-9539T>A
c.1074+2T>A (n.1074+2T>A)
c.947+2T>A
c.915+2T>A (n.915+2T>A)
c.332+2T>A
c.753+2T>A
c.1049+2T>A
c.819+2T>A (n.819+2T>A)
n.527T>A
n.386+2T>A
c.623+2T>A
c.520+2T>A
c.819+2T>A
c.1077+2T>A (n.1077+2T>A)
n.865+2T>A
c.674-1384T>A
2g.32127024T>CCA346501351SPASTc.*833+2T>C (n.*833+2T>C)
c.1173+2T>C (n.1173+2T>C)
c.1170+2T>C (n.1170+2T>C)
c.983-9539T>C
c.1074+2T>C (n.1074+2T>C)
c.947+2T>C
c.915+2T>C (n.915+2T>C)
c.332+2T>C
c.753+2T>C
c.1049+2T>C
c.819+2T>C (n.819+2T>C)
n.527T>C
n.386+2T>C
c.623+2T>C
c.520+2T>C
c.819+2T>C
c.1077+2T>C (n.1077+2T>C)
n.865+2T>C
c.674-1384T>C
2g.32127024T>GCA346501352SPASTc.*833+2T>G (n.*833+2T>G)
c.1173+2T>G (n.1173+2T>G)
c.1170+2T>G (n.1170+2T>G)
c.983-9539T>G
c.1074+2T>G (n.1074+2T>G)
c.947+2T>G
c.915+2T>G (n.915+2T>G)
c.332+2T>G
c.753+2T>G
c.1049+2T>G
c.819+2T>G (n.819+2T>G)
n.527T>G
n.386+2T>G
c.623+2T>G
c.520+2T>G
c.819+2T>G
c.1077+2T>G (n.1077+2T>G)
n.865+2T>G
c.674-1384T>G
2g.32127024dupCA2586964701SPASTc.*833+2dup (n.*833+2dup)
c.1173+2dup (n.1173+2dup)
c.1170+2dup (n.1170+2dup)
c.983-9539dup
c.1074+2dup (n.1074+2dup)
c.947+2dup
c.915+2dup (n.915+2dup)
c.332+2dup
c.753+2dup
c.1049+2dup
c.819+2dup (n.819+2dup)
n.527dup
n.386+2dup
c.623+2dup
c.520+2dup
c.819+2dup
c.1077+2dup (n.1077+2dup)
n.865+2dup
c.674-1384dup
 ClinVar
2g.32127024_32127025insCCA2586964702SPASTc.*833+2_*833+3insC (n.*833+2_*833+3insC)
c.1173+2_1173+3insC (n.1173+2_1173+3insC)
c.1170+2_1170+3insC (n.1170+2_1170+3insC)
c.983-9539_983-9538insC
c.1074+2_1074+3insC (n.1074+2_1074+3insC)
c.947+2_947+3insC
c.915+2_915+3insC (n.915+2_915+3insC)
c.332+2_332+3insC
c.753+2_753+3insC
c.1049+2_1049+3insC
c.819+2_819+3insC (n.819+2_819+3insC)
n.527_528insC
n.386+2_386+3insC
c.623+2_623+3insC
c.520+2_520+3insC
c.819+2_819+3insC
c.1077+2_1077+3insC (n.1077+2_1077+3insC)
n.865+2_865+3insC
c.674-1384_674-1383insC
2g.32127025A=CA1242497437SPASTc.*833+3A= (n.*833+3A=)
c.1173+3A= (n.1173+3A=)
c.1170+3A= (n.1170+3A=)
c.983-9538A=
c.1074+3A= (n.1074+3A=)
c.947+3A=
c.915+3A= (n.915+3A=)
c.332+3A=
c.753+3A=
c.1049+3A=
c.819+3A= (n.819+3A=)
n.528A=
n.386+3A=
c.623+3A=
c.520+3A=
c.819+3A=
c.1077+3A= (n.1077+3A=)
n.865+3A=
c.674-1383A=
2g.32127025A>GCA531500404SPASTc.*833+3A>G (n.*833+3A>G)
c.1173+3A>G (n.1173+3A>G)
c.1170+3A>G (n.1170+3A>G)
c.983-9538A>G
c.1074+3A>G (n.1074+3A>G)
c.947+3A>G
c.915+3A>G (n.915+3A>G)
c.332+3A>G
c.753+3A>G
c.1049+3A>G
c.819+3A>G (n.819+3A>G)
n.528A>G
n.386+3A>G
c.623+3A>G
c.520+3A>G
c.819+3A>G
c.1077+3A>G (n.1077+3A>G)
n.865+3A>G
c.674-1383A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32127026_32127027delinsAGCA1242497438SPASTc.*833+4_*833+5delinsAG (n.*833+4_*833+5delinsAG)
c.1173+4_1173+5delinsAG (n.1173+4_1173+5delinsAG)
c.1170+4_1170+5delinsAG (n.1170+4_1170+5delinsAG)
c.983-9537_983-9536delinsAG
c.1074+4_1074+5delinsAG (n.1074+4_1074+5delinsAG)
c.947+4_947+5delinsAG
c.915+4_915+5delinsAG (n.915+4_915+5delinsAG)
c.332+4_332+5delinsAG
c.753+4_753+5delinsAG
c.1049+4_1049+5delinsAG
c.819+4_819+5delinsAG (n.819+4_819+5delinsAG)
n.529_530delinsAG
n.386+4_386+5delinsAG
c.623+4_623+5delinsAG
c.520+4_520+5delinsAG
c.819+4_819+5delinsAG
c.1077+4_1077+5delinsAG (n.1077+4_1077+5delinsAG)
n.865+4_865+5delinsAG
c.674-1382_674-1381delinsAG
2g.32127027G>CCA2658526624SPASTc.*833+5G>C (n.*833+5G>C)
c.1173+5G>C (n.1173+5G>C)
c.1170+5G>C (n.1170+5G>C)
c.983-9536G>C
c.1074+5G>C (n.1074+5G>C)
c.947+5G>C
c.915+5G>C (n.915+5G>C)
c.332+5G>C
c.753+5G>C
c.1049+5G>C
c.819+5G>C (n.819+5G>C)
n.530G>C
n.386+5G>C
c.623+5G>C
c.520+5G>C
c.819+5G>C
c.1077+5G>C (n.1077+5G>C)
n.865+5G>C
c.674-1381G>C
 gnomAD v4
2g.32127027G=CA1242497439SPASTc.*833+5G= (n.*833+5G=)
c.1173+5G= (n.1173+5G=)
c.1170+5G= (n.1170+5G=)
c.983-9536G=
c.1074+5G= (n.1074+5G=)
c.947+5G=
c.915+5G= (n.915+5G=)
c.332+5G=
c.753+5G=
c.1049+5G=
c.819+5G= (n.819+5G=)
n.530G=
n.386+5G=
c.623+5G=
c.520+5G=
c.819+5G=
c.1077+5G= (n.1077+5G=)
n.865+5G=
c.674-1381G=
2g.32127027G>TCA767786835SPASTc.*833+5G>T (n.*833+5G>T)
c.1173+5G>T (n.1173+5G>T)
c.1170+5G>T (n.1170+5G>T)
c.983-9536G>T
c.1074+5G>T (n.1074+5G>T)
c.947+5G>T
c.915+5G>T (n.915+5G>T)
c.332+5G>T
c.753+5G>T
c.1049+5G>T
c.819+5G>T (n.819+5G>T)
n.530G>T
n.386+5G>T
c.623+5G>T
c.520+5G>T
c.819+5G>T
c.1077+5G>T (n.1077+5G>T)
n.865+5G>T
c.674-1381G>T
 dbSNP gnomAD v3 gnomAD v4
2g.32127029delCA1600813SPASTc.*833+7del (n.*833+7del)
c.1173+7del (n.1173+7del)
c.1170+7del (n.1170+7del)
c.983-9534del
c.1074+7del (n.1074+7del)
c.947+7del
c.915+7del (n.915+7del)
c.332+7del
c.753+7del
c.1049+7del
c.819+7del (n.819+7del)
n.532del
n.386+7del
c.623+7del
c.520+7del
c.819+7del
c.1077+7del (n.1077+7del)
n.865+7del
c.674-1379del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127028G=CA1242497440SPASTc.*833+6G= (n.*833+6G=)
c.1173+6G= (n.1173+6G=)
c.1170+6G= (n.1170+6G=)
c.983-9535G=
c.1074+6G= (n.1074+6G=)
c.947+6G=
c.915+6G= (n.915+6G=)
c.332+6G=
c.753+6G=
c.1049+6G=
c.819+6G= (n.819+6G=)
n.531G=
n.386+6G=
c.623+6G=
c.520+6G=
c.819+6G=
c.1077+6G= (n.1077+6G=)
n.865+6G=
c.674-1380G=
2g.32127028G>TCA1242497441SPASTc.*833+6G>T (n.*833+6G>T)
c.1173+6G>T (n.1173+6G>T)
c.1170+6G>T (n.1170+6G>T)
c.983-9535G>T
c.1074+6G>T (n.1074+6G>T)
c.947+6G>T
c.915+6G>T (n.915+6G>T)
c.332+6G>T
c.753+6G>T
c.1049+6G>T
c.819+6G>T (n.819+6G>T)
n.531G>T
n.386+6G>T
c.623+6G>T
c.520+6G>T
c.819+6G>T
c.1077+6G>T (n.1077+6G>T)
n.865+6G>T
c.674-1380G>T
 dbSNP
2g.32127029G>ACA1600814SPASTc.*833+7G>A (n.*833+7G>A)
c.1173+7G>A (n.1173+7G>A)
c.1170+7G>A (n.1170+7G>A)
c.983-9534G>A
c.1074+7G>A (n.1074+7G>A)
c.947+7G>A
c.915+7G>A (n.915+7G>A)
c.332+7G>A
c.753+7G>A
c.1049+7G>A
c.819+7G>A (n.819+7G>A)
n.532G>A
n.386+7G>A
c.623+7G>A
c.520+7G>A
c.819+7G>A
c.1077+7G>A (n.1077+7G>A)
n.865+7G>A
c.674-1379G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127029G=CA1242497442SPASTc.*833+7G= (n.*833+7G=)
c.1173+7G= (n.1173+7G=)
c.1170+7G= (n.1170+7G=)
c.983-9534G=
c.1074+7G= (n.1074+7G=)
c.947+7G=
c.915+7G= (n.915+7G=)
c.332+7G=
c.753+7G=
c.1049+7G=
c.819+7G= (n.819+7G=)
n.532G=
n.386+7G=
c.623+7G=
c.520+7G=
c.819+7G=
c.1077+7G= (n.1077+7G=)
n.865+7G=
c.674-1379G=
2g.32127029G>TCA425446658SPASTc.*833+7G>T (n.*833+7G>T)
c.1173+7G>T (n.1173+7G>T)
c.1170+7G>T (n.1170+7G>T)
c.983-9534G>T
c.1074+7G>T (n.1074+7G>T)
c.947+7G>T
c.915+7G>T (n.915+7G>T)
c.332+7G>T
c.753+7G>T
c.1049+7G>T
c.819+7G>T (n.819+7G>T)
n.532G>T
n.386+7G>T
c.623+7G>T
c.520+7G>T
c.819+7G>T
c.1077+7G>T (n.1077+7G>T)
n.865+7G>T
c.674-1379G>T
 ClinVar dbSNP gnomAD v4
2g.32127030T>CCA2658526625SPASTc.*833+8T>C (n.*833+8T>C)
c.1173+8T>C (n.1173+8T>C)
c.1170+8T>C (n.1170+8T>C)
c.983-9533T>C
c.1074+8T>C (n.1074+8T>C)
c.947+8T>C
c.915+8T>C (n.915+8T>C)
c.332+8T>C
c.753+8T>C
c.1049+8T>C
c.819+8T>C (n.819+8T>C)
n.533T>C
n.386+8T>C
c.623+8T>C
c.520+8T>C
c.819+8T>C
c.1077+8T>C (n.1077+8T>C)
n.865+8T>C
c.674-1378T>C
 gnomAD v4
2g.32127031T>CCA1600815SPASTc.*833+9T>C (n.*833+9T>C)
c.1173+9T>C (n.1173+9T>C)
c.1170+9T>C (n.1170+9T>C)
c.983-9532T>C
c.1074+9T>C (n.1074+9T>C)
c.947+9T>C
c.915+9T>C (n.915+9T>C)
c.332+9T>C
c.753+9T>C
c.1049+9T>C
c.819+9T>C (n.819+9T>C)
n.534T>C
n.386+9T>C
c.623+9T>C
c.520+9T>C
c.819+9T>C
c.1077+9T>C (n.1077+9T>C)
n.865+9T>C
c.674-1377T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127031T=CA1242497443SPASTc.*833+9T= (n.*833+9T=)
c.1173+9T= (n.1173+9T=)
c.1170+9T= (n.1170+9T=)
c.983-9532T=
c.1074+9T= (n.1074+9T=)
c.947+9T=
c.915+9T= (n.915+9T=)
c.332+9T=
c.753+9T=
c.1049+9T=
c.819+9T= (n.819+9T=)
n.534T=
n.386+9T=
c.623+9T=
c.520+9T=
c.819+9T=
c.1077+9T= (n.1077+9T=)
n.865+9T=
c.674-1377T=
2g.32127032C>ACA2658526626SPASTc.*833+10C>A (n.*833+10C>A)
c.1173+10C>A (n.1173+10C>A)
c.1170+10C>A (n.1170+10C>A)
c.983-9531C>A
c.1074+10C>A (n.1074+10C>A)
c.947+10C>A
c.915+10C>A (n.915+10C>A)
c.332+10C>A
c.753+10C>A
c.1049+10C>A
c.819+10C>A (n.819+10C>A)
n.535C>A
n.386+10C>A
c.623+10C>A
c.520+10C>A
c.819+10C>A
c.1077+10C>A (n.1077+10C>A)
n.865+10C>A
c.674-1376C>A
 gnomAD v4
2g.32127032C=CA1242497444SPASTc.*833+10C= (n.*833+10C=)
c.1173+10C= (n.1173+10C=)
c.1170+10C= (n.1170+10C=)
c.983-9531C=
c.1074+10C= (n.1074+10C=)
c.947+10C=
c.915+10C= (n.915+10C=)
c.332+10C=
c.753+10C=
c.1049+10C=
c.819+10C= (n.819+10C=)
n.535C=
n.386+10C=
c.623+10C=
c.520+10C=
c.819+10C=
c.1077+10C= (n.1077+10C=)
n.865+10C=
c.674-1376C=
2g.32127032C>TCA1600816SPASTc.*833+10C>T (n.*833+10C>T)
c.1173+10C>T (n.1173+10C>T)
c.1170+10C>T (n.1170+10C>T)
c.983-9531C>T
c.1074+10C>T (n.1074+10C>T)
c.947+10C>T
c.915+10C>T (n.915+10C>T)
c.332+10C>T
c.753+10C>T
c.1049+10C>T
c.819+10C>T (n.819+10C>T)
n.535C>T
n.386+10C>T
c.623+10C>T
c.520+10C>T
c.819+10C>T
c.1077+10C>T (n.1077+10C>T)
n.865+10C>T
c.674-1376C>T
 dbSNP ExAC gnomAD v2
2g.32127034C=CA1242497445SPASTc.*833+12C= (n.*833+12C=)
c.1173+12C= (n.1173+12C=)
c.1170+12C= (n.1170+12C=)
c.983-9529C=
c.1074+12C= (n.1074+12C=)
c.947+12C=
c.915+12C= (n.915+12C=)
c.332+12C=
c.753+12C=
c.1049+12C=
c.819+12C= (n.819+12C=)
n.537C=
n.386+12C=
c.623+12C=
c.520+12C=
c.819+12C=
c.1077+12C= (n.1077+12C=)
n.865+12C=
c.674-1374C=
2g.32127034C>GCA1600817SPASTc.*833+12C>G (n.*833+12C>G)
c.1173+12C>G (n.1173+12C>G)
c.1170+12C>G (n.1170+12C>G)
c.983-9529C>G
c.1074+12C>G (n.1074+12C>G)
c.947+12C>G
c.915+12C>G (n.915+12C>G)
c.332+12C>G
c.753+12C>G
c.1049+12C>G
c.819+12C>G (n.819+12C>G)
n.537C>G
n.386+12C>G
c.623+12C>G
c.520+12C>G
c.819+12C>G
c.1077+12C>G (n.1077+12C>G)
n.865+12C>G
c.674-1374C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127035T>CCA2658526627SPASTc.*833+13T>C (n.*833+13T>C)
c.1173+13T>C (n.1173+13T>C)
c.1170+13T>C (n.1170+13T>C)
c.983-9528T>C
c.1074+13T>C (n.1074+13T>C)
c.947+13T>C
c.915+13T>C (n.915+13T>C)
c.332+13T>C
c.753+13T>C
c.1049+13T>C
c.819+13T>C (n.819+13T>C)
n.538T>C
n.386+13T>C
c.623+13T>C
c.520+13T>C
c.819+13T>C
c.1077+13T>C (n.1077+13T>C)
n.865+13T>C
c.674-1373T>C
 gnomAD v4
2g.32127036T>CCA2658526628SPASTc.*833+14T>C (n.*833+14T>C)
c.1173+14T>C (n.1173+14T>C)
c.1170+14T>C (n.1170+14T>C)
c.983-9527T>C
c.1074+14T>C (n.1074+14T>C)
c.947+14T>C
c.915+14T>C (n.915+14T>C)
c.332+14T>C
c.753+14T>C
c.1049+14T>C
c.819+14T>C (n.819+14T>C)
n.539T>C
n.386+14T>C
c.623+14T>C
c.520+14T>C
c.819+14T>C
c.1077+14T>C (n.1077+14T>C)
n.865+14T>C
c.674-1372T>C
 gnomAD v4
2g.32127037C>ACA2658526629SPASTc.*833+15C>A (n.*833+15C>A)
c.1173+15C>A (n.1173+15C>A)
c.1170+15C>A (n.1170+15C>A)
c.983-9526C>A
c.1074+15C>A (n.1074+15C>A)
c.947+15C>A
c.915+15C>A (n.915+15C>A)
c.332+15C>A
c.753+15C>A
c.1049+15C>A
c.819+15C>A (n.819+15C>A)
n.540C>A
n.386+15C>A
c.623+15C>A
c.520+15C>A
c.819+15C>A
c.1077+15C>A (n.1077+15C>A)
n.865+15C>A
c.674-1371C>A
 gnomAD v4
2g.32127039A=CA1242497446SPASTc.*833+17A= (n.*833+17A=)
c.1173+17A= (n.1173+17A=)
c.1170+17A= (n.1170+17A=)
c.983-9524A=
c.1074+17A= (n.1074+17A=)
c.947+17A=
c.915+17A= (n.915+17A=)
c.332+17A=
c.753+17A=
c.1049+17A=
c.819+17A= (n.819+17A=)
n.542A=
n.386+17A=
c.623+17A=
c.520+17A=
c.819+17A=
c.1077+17A= (n.1077+17A=)
n.865+17A=
c.674-1369A=
2g.32127039A>CCA1600818SPASTc.*833+17A>C (n.*833+17A>C)
c.1173+17A>C (n.1173+17A>C)
c.1170+17A>C (n.1170+17A>C)
c.983-9524A>C
c.1074+17A>C (n.1074+17A>C)
c.947+17A>C
c.915+17A>C (n.915+17A>C)
c.332+17A>C
c.753+17A>C
c.1049+17A>C
c.819+17A>C (n.819+17A>C)
n.542A>C
n.386+17A>C
c.623+17A>C
c.520+17A>C
c.819+17A>C
c.1077+17A>C (n.1077+17A>C)
n.865+17A>C
c.674-1369A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127039A>GCA1600819SPASTc.*833+17A>G (n.*833+17A>G)
c.1173+17A>G (n.1173+17A>G)
c.1170+17A>G (n.1170+17A>G)
c.983-9524A>G
c.1074+17A>G (n.1074+17A>G)
c.947+17A>G
c.915+17A>G (n.915+17A>G)
c.332+17A>G
c.753+17A>G
c.1049+17A>G
c.819+17A>G (n.819+17A>G)
n.542A>G
n.386+17A>G
c.623+17A>G
c.520+17A>G
c.819+17A>G
c.1077+17A>G (n.1077+17A>G)
n.865+17A>G
c.674-1369A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127039A>TCA767786851SPASTc.*833+17A>T (n.*833+17A>T)
c.1173+17A>T (n.1173+17A>T)
c.1170+17A>T (n.1170+17A>T)
c.983-9524A>T
c.1074+17A>T (n.1074+17A>T)
c.947+17A>T
c.915+17A>T (n.915+17A>T)
c.332+17A>T
c.753+17A>T
c.1049+17A>T
c.819+17A>T (n.819+17A>T)
n.542A>T
n.386+17A>T
c.623+17A>T
c.520+17A>T
c.819+17A>T
c.1077+17A>T (n.1077+17A>T)
n.865+17A>T
c.674-1369A>T
 dbSNP
2g.32127041T>GCA1600820SPASTc.*833+19T>G (n.*833+19T>G)
c.1173+19T>G (n.1173+19T>G)
c.1170+19T>G (n.1170+19T>G)
c.983-9522T>G
c.1074+19T>G (n.1074+19T>G)
c.947+19T>G
c.915+19T>G (n.915+19T>G)
c.332+19T>G
c.753+19T>G
c.1049+19T>G
c.819+19T>G (n.819+19T>G)
n.544T>G
n.386+19T>G
c.623+19T>G
c.520+19T>G
c.819+19T>G
c.1077+19T>G (n.1077+19T>G)
n.865+19T>G
c.674-1367T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127041T=CA1242497447SPASTc.*833+19T= (n.*833+19T=)
c.1173+19T= (n.1173+19T=)
c.1170+19T= (n.1170+19T=)
c.983-9522T=
c.1074+19T= (n.1074+19T=)
c.947+19T=
c.915+19T= (n.915+19T=)
c.332+19T=
c.753+19T=
c.1049+19T=
c.819+19T= (n.819+19T=)
n.544T=
n.386+19T=
c.623+19T=
c.520+19T=
c.819+19T=
c.1077+19T= (n.1077+19T=)
n.865+19T=
c.674-1367T=
2g.32127042T>CCA531500410SPASTc.*833+20T>C (n.*833+20T>C)
c.1173+20T>C (n.1173+20T>C)
c.1170+20T>C (n.1170+20T>C)
c.983-9521T>C
c.1074+20T>C (n.1074+20T>C)
c.947+20T>C
c.915+20T>C (n.915+20T>C)
c.332+20T>C
c.753+20T>C
c.1049+20T>C
c.819+20T>C (n.819+20T>C)
n.545T>C
n.386+20T>C
c.623+20T>C
c.520+20T>C
c.819+20T>C
c.1077+20T>C (n.1077+20T>C)
n.865+20T>C
c.674-1366T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32127042T=CA1242497448SPASTc.*833+20T= (n.*833+20T=)
c.1173+20T= (n.1173+20T=)
c.1170+20T= (n.1170+20T=)
c.983-9521T=
c.1074+20T= (n.1074+20T=)
c.947+20T=
c.915+20T= (n.915+20T=)
c.332+20T=
c.753+20T=
c.1049+20T=
c.819+20T= (n.819+20T=)
n.545T=
n.386+20T=
c.623+20T=
c.520+20T=
c.819+20T=
c.1077+20T= (n.1077+20T=)
n.865+20T=
c.674-1366T=
2g.32127047_32127058delCA2576930343SPASTc.*833+25_*833+36del (n.*833+25_*833+36del)
c.1173+25_1173+36del (n.1173+25_1173+36del)
c.1170+25_1170+36del (n.1170+25_1170+36del)
c.983-9516_983-9505del
c.1074+25_1074+36del (n.1074+25_1074+36del)
c.947+25_947+36del
c.915+25_915+36del (n.915+25_915+36del)
c.332+25_332+36del
c.753+25_753+36del
c.1049+25_1049+36del
c.819+25_819+36del (n.819+25_819+36del)
n.550_561del
n.386+25_386+36del
c.623+25_623+36del
c.520+25_520+36del
c.819+25_819+36del
c.1077+25_1077+36del (n.1077+25_1077+36del)
n.865+25_865+36del
c.674-1361_674-1350del
2g.32127044G>ACA2576930346SPASTc.*833+22G>A (n.*833+22G>A)
c.1173+22G>A (n.1173+22G>A)
c.1170+22G>A (n.1170+22G>A)
c.983-9519G>A
c.1074+22G>A (n.1074+22G>A)
c.947+22G>A
c.915+22G>A (n.915+22G>A)
c.332+22G>A
c.753+22G>A
c.1049+22G>A
c.819+22G>A (n.819+22G>A)
n.547G>A
n.386+22G>A
c.623+22G>A
c.520+22G>A
c.819+22G>A
c.1077+22G>A (n.1077+22G>A)
n.865+22G>A
c.674-1364G>A
2g.32127048T>CCA2749393447SPASTc.*833+26T>C (n.*833+26T>C)
c.1173+26T>C (n.1173+26T>C)
c.1170+26T>C (n.1170+26T>C)
c.983-9515T>C
c.1074+26T>C (n.1074+26T>C)
c.947+26T>C
c.915+26T>C (n.915+26T>C)
c.332+26T>C
c.753+26T>C
c.1049+26T>C
c.819+26T>C (n.819+26T>C)
n.551T>C
n.386+26T>C
c.623+26T>C
c.520+26T>C
c.819+26T>C
c.1077+26T>C (n.1077+26T>C)
n.865+26T>C
c.674-1360T>C
2g.32127050T>GCA2658526630SPASTc.*833+28T>G (n.*833+28T>G)
c.1173+28T>G (n.1173+28T>G)
c.1170+28T>G (n.1170+28T>G)
c.983-9513T>G
c.1074+28T>G (n.1074+28T>G)
c.947+28T>G
c.915+28T>G (n.915+28T>G)
c.332+28T>G
c.753+28T>G
c.1049+28T>G
c.819+28T>G (n.819+28T>G)
n.553T>G
n.386+28T>G
c.623+28T>G
c.520+28T>G
c.819+28T>G
c.1077+28T>G (n.1077+28T>G)
n.865+28T>G
c.674-1358T>G
 gnomAD v4
2g.32127051C>ACA2658526631SPASTc.*833+29C>A (n.*833+29C>A)
c.1173+29C>A (n.1173+29C>A)
c.1170+29C>A (n.1170+29C>A)
c.983-9512C>A
c.1074+29C>A (n.1074+29C>A)
c.947+29C>A
c.915+29C>A (n.915+29C>A)
c.332+29C>A
c.753+29C>A
c.1049+29C>A
c.819+29C>A (n.819+29C>A)
n.554C>A
n.386+29C>A
c.623+29C>A
c.520+29C>A
c.819+29C>A
c.1077+29C>A (n.1077+29C>A)
n.865+29C>A
c.674-1357C>A
 gnomAD v4
2g.32127053G>ACA1600822SPASTc.*833+31G>A (n.*833+31G>A)
c.1173+31G>A (n.1173+31G>A)
c.1170+31G>A (n.1170+31G>A)
c.983-9510G>A
c.1074+31G>A (n.1074+31G>A)
c.947+31G>A
c.915+31G>A (n.915+31G>A)
c.332+31G>A
c.753+31G>A
c.1049+31G>A
c.819+31G>A (n.819+31G>A)
n.556G>A
n.386+31G>A
c.623+31G>A
c.520+31G>A
c.819+31G>A
c.1077+31G>A (n.1077+31G>A)
n.865+31G>A
c.674-1355G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127053G>CCA1600821SPASTc.*833+31G>C (n.*833+31G>C)
c.1173+31G>C (n.1173+31G>C)
c.1170+31G>C (n.1170+31G>C)
c.983-9510G>C
c.1074+31G>C (n.1074+31G>C)
c.947+31G>C
c.915+31G>C (n.915+31G>C)
c.332+31G>C
c.753+31G>C
c.1049+31G>C
c.819+31G>C (n.819+31G>C)
n.556G>C
n.386+31G>C
c.623+31G>C
c.520+31G>C
c.819+31G>C
c.1077+31G>C (n.1077+31G>C)
n.865+31G>C
c.674-1355G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127053G=CA1242497449SPASTc.*833+31G= (n.*833+31G=)
c.1173+31G= (n.1173+31G=)
c.1170+31G= (n.1170+31G=)
c.983-9510G=
c.1074+31G= (n.1074+31G=)
c.947+31G=
c.915+31G= (n.915+31G=)
c.332+31G=
c.753+31G=
c.1049+31G=
c.819+31G= (n.819+31G=)
n.556G=
n.386+31G=
c.623+31G=
c.520+31G=
c.819+31G=
c.1077+31G= (n.1077+31G=)
n.865+31G=
c.674-1355G=
2g.32127056G>ACA2658526632SPASTc.*833+34G>A (n.*833+34G>A)
c.1173+34G>A (n.1173+34G>A)
c.1170+34G>A (n.1170+34G>A)
c.983-9507G>A
c.1074+34G>A (n.1074+34G>A)
c.947+34G>A
c.915+34G>A (n.915+34G>A)
c.332+34G>A
c.753+34G>A
c.1049+34G>A
c.819+34G>A (n.819+34G>A)
n.559G>A
n.386+34G>A
c.623+34G>A
c.520+34G>A
c.819+34G>A
c.1077+34G>A (n.1077+34G>A)
n.865+34G>A
c.674-1352G>A
 gnomAD v4
2g.32127057A=CA1242497450SPASTc.*833+35A= (n.*833+35A=)
c.1173+35A= (n.1173+35A=)
c.1170+35A= (n.1170+35A=)
c.983-9506A=
c.1074+35A= (n.1074+35A=)
c.947+35A=
c.915+35A= (n.915+35A=)
c.332+35A=
c.753+35A=
c.1049+35A=
c.819+35A= (n.819+35A=)
n.560A=
n.386+35A=
c.623+35A=
c.520+35A=
c.819+35A=
c.1077+35A= (n.1077+35A=)
n.865+35A=
c.674-1351A=
2g.32127057A>GCA531500412SPASTc.*833+35A>G (n.*833+35A>G)
c.1173+35A>G (n.1173+35A>G)
c.1170+35A>G (n.1170+35A>G)
c.983-9506A>G
c.1074+35A>G (n.1074+35A>G)
c.947+35A>G
c.915+35A>G (n.915+35A>G)
c.332+35A>G
c.753+35A>G
c.1049+35A>G
c.819+35A>G (n.819+35A>G)
n.560A>G
n.386+35A>G
c.623+35A>G
c.520+35A>G
c.819+35A>G
c.1077+35A>G (n.1077+35A>G)
n.865+35A>G
c.674-1351A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32127058G>ACA2658526633SPASTc.*833+36G>A (n.*833+36G>A)
c.1173+36G>A (n.1173+36G>A)
c.1170+36G>A (n.1170+36G>A)
c.983-9505G>A
c.1074+36G>A (n.1074+36G>A)
c.947+36G>A
c.915+36G>A (n.915+36G>A)
c.332+36G>A
c.753+36G>A
c.1049+36G>A
c.819+36G>A (n.819+36G>A)
n.561G>A
n.386+36G>A
c.623+36G>A
c.520+36G>A
c.819+36G>A
c.1077+36G>A (n.1077+36G>A)
n.865+36G>A
c.674-1350G>A
 gnomAD v4
2g.32127059A=CA1242497451SPASTc.*833+37A= (n.*833+37A=)
c.1173+37A= (n.1173+37A=)
c.1170+37A= (n.1170+37A=)
c.983-9504A=
c.1074+37A= (n.1074+37A=)
c.947+37A=
c.915+37A= (n.915+37A=)
c.332+37A=
c.753+37A=
c.1049+37A=
c.819+37A= (n.819+37A=)
n.562A=
n.386+37A=
c.623+37A=
c.520+37A=
c.819+37A=
c.1077+37A= (n.1077+37A=)
n.865+37A=
c.674-1349A=
2g.32127059A>CCA767786867SPASTc.*833+37A>C (n.*833+37A>C)
c.1173+37A>C (n.1173+37A>C)
c.1170+37A>C (n.1170+37A>C)
c.983-9504A>C
c.1074+37A>C (n.1074+37A>C)
c.947+37A>C
c.915+37A>C (n.915+37A>C)
c.332+37A>C
c.753+37A>C
c.1049+37A>C
c.819+37A>C (n.819+37A>C)
n.562A>C
n.386+37A>C
c.623+37A>C
c.520+37A>C
c.819+37A>C
c.1077+37A>C (n.1077+37A>C)
n.865+37A>C
c.674-1349A>C
 dbSNP gnomAD v3 gnomAD v4
2g.32127059A>GCA531500414SPASTc.*833+37A>G (n.*833+37A>G)
c.1173+37A>G (n.1173+37A>G)
c.1170+37A>G (n.1170+37A>G)
c.983-9504A>G
c.1074+37A>G (n.1074+37A>G)
c.947+37A>G
c.915+37A>G (n.915+37A>G)
c.332+37A>G
c.753+37A>G
c.1049+37A>G
c.819+37A>G (n.819+37A>G)
n.562A>G
n.386+37A>G
c.623+37A>G
c.520+37A>G
c.819+37A>G
c.1077+37A>G (n.1077+37A>G)
n.865+37A>G
c.674-1349A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32127060T>ACA2658526634SPASTc.*833+38T>A (n.*833+38T>A)
c.1173+38T>A (n.1173+38T>A)
c.1170+38T>A (n.1170+38T>A)
c.983-9503T>A
c.1074+38T>A (n.1074+38T>A)
c.947+38T>A
c.915+38T>A (n.915+38T>A)
c.332+38T>A
c.753+38T>A
c.1049+38T>A
c.819+38T>A (n.819+38T>A)
n.563T>A
n.386+38T>A
c.623+38T>A
c.520+38T>A
c.819+38T>A
c.1077+38T>A (n.1077+38T>A)
n.865+38T>A
c.674-1348T>A
 gnomAD v4
2g.32127062T>CCA2658526635SPASTc.*833+40T>C (n.*833+40T>C)
c.1173+40T>C (n.1173+40T>C)
c.1170+40T>C (n.1170+40T>C)
c.983-9501T>C
c.1074+40T>C (n.1074+40T>C)
c.947+40T>C
c.915+40T>C (n.915+40T>C)
c.332+40T>C
c.753+40T>C
c.1049+40T>C
c.819+40T>C (n.819+40T>C)
n.565T>C
n.386+40T>C
c.623+40T>C
c.520+40T>C
c.819+40T>C
c.1077+40T>C (n.1077+40T>C)
n.865+40T>C
c.674-1346T>C
 gnomAD v4
2g.32127064delCA2576930347SPASTc.*833+42del (n.*833+42del)
c.1173+42del (n.1173+42del)
c.1170+42del (n.1170+42del)
c.983-9499del
c.1074+42del (n.1074+42del)
c.947+42del
c.915+42del (n.915+42del)
c.332+42del
c.753+42del
c.1049+42del
c.819+42del (n.819+42del)
n.567del
n.386+42del
c.623+42del
c.520+42del
c.819+42del
c.1077+42del (n.1077+42del)
n.865+42del
c.674-1344del
2g.32127064T>CCA1600823SPASTc.*833+42T>C (n.*833+42T>C)
c.1173+42T>C (n.1173+42T>C)
c.1170+42T>C (n.1170+42T>C)
c.983-9499T>C
c.1074+42T>C (n.1074+42T>C)
c.947+42T>C
c.915+42T>C (n.915+42T>C)
c.332+42T>C
c.753+42T>C
c.1049+42T>C
c.819+42T>C (n.819+42T>C)
n.567T>C
n.386+42T>C
c.623+42T>C
c.520+42T>C
c.819+42T>C
c.1077+42T>C (n.1077+42T>C)
n.865+42T>C
c.674-1344T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32127064T=CA1242497452SPASTc.*833+42T= (n.*833+42T=)
c.1173+42T= (n.1173+42T=)
c.1170+42T= (n.1170+42T=)
c.983-9499T=
c.1074+42T= (n.1074+42T=)
c.947+42T=
c.915+42T= (n.915+42T=)
c.332+42T=
c.753+42T=
c.1049+42T=
c.819+42T= (n.819+42T=)
n.567T=
n.386+42T=
c.623+42T=
c.520+42T=
c.819+42T=
c.1077+42T= (n.1077+42T=)
n.865+42T=
c.674-1344T=
2g.32127065G>ACA1600824SPASTc.*833+43G>A (n.*833+43G>A)
c.1173+43G>A (n.1173+43G>A)
c.1170+43G>A (n.1170+43G>A)
c.983-9498G>A
c.1074+43G>A (n.1074+43G>A)
c.947+43G>A
c.915+43G>A (n.915+43G>A)
c.332+43G>A
c.753+43G>A
c.1049+43G>A
c.819+43G>A (n.819+43G>A)
n.568G>A
n.386+43G>A
c.623+43G>A
c.520+43G>A
c.819+43G>A
c.1077+43G>A (n.1077+43G>A)
n.865+43G>A
c.674-1343G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32127065G=CA1242497453SPASTc.*833+43G= (n.*833+43G=)
c.1173+43G= (n.1173+43G=)
c.1170+43G= (n.1170+43G=)
c.983-9498G=
c.1074+43G= (n.1074+43G=)
c.947+43G=
c.915+43G= (n.915+43G=)
c.332+43G=
c.753+43G=
c.1049+43G=
c.819+43G= (n.819+43G=)
n.568G=
n.386+43G=
c.623+43G=
c.520+43G=
c.819+43G=
c.1077+43G= (n.1077+43G=)
n.865+43G=
c.674-1343G=
2g.32127068A>CCA2658526636SPASTc.*833+46A>C (n.*833+46A>C)
c.1173+46A>C (n.1173+46A>C)
c.1170+46A>C (n.1170+46A>C)
c.983-9495A>C
c.1074+46A>C (n.1074+46A>C)
c.947+46A>C
c.915+46A>C (n.915+46A>C)
c.332+46A>C
c.753+46A>C
c.1049+46A>C
c.819+46A>C (n.819+46A>C)
n.571A>C
n.386+46A>C
c.623+46A>C
c.520+46A>C
c.819+46A>C
c.1077+46A>C (n.1077+46A>C)
n.865+46A>C
c.674-1340A>C
 gnomAD v4
2g.32127068A>GCA2658526637SPASTc.*833+46A>G (n.*833+46A>G)
c.1173+46A>G (n.1173+46A>G)
c.1170+46A>G (n.1170+46A>G)
c.983-9495A>G
c.1074+46A>G (n.1074+46A>G)
c.947+46A>G
c.915+46A>G (n.915+46A>G)
c.332+46A>G
c.753+46A>G
c.1049+46A>G
c.819+46A>G (n.819+46A>G)
n.571A>G
n.386+46A>G
c.623+46A>G
c.520+46A>G
c.819+46A>G
c.1077+46A>G (n.1077+46A>G)
n.865+46A>G
c.674-1340A>G
 gnomAD v4
2g.32127069T>ACA2658526638SPASTc.*833+47T>A (n.*833+47T>A)
c.1173+47T>A (n.1173+47T>A)
c.1170+47T>A (n.1170+47T>A)
c.983-9494T>A
c.1074+47T>A (n.1074+47T>A)
c.947+47T>A
c.915+47T>A (n.915+47T>A)
c.332+47T>A
c.753+47T>A
c.1049+47T>A
c.819+47T>A (n.819+47T>A)
n.572T>A
n.386+47T>A
c.623+47T>A
c.520+47T>A
c.819+47T>A
c.1077+47T>A (n.1077+47T>A)
n.865+47T>A
c.674-1339T>A
 gnomAD v4
2g.32127070A>GCA2658526639SPASTc.*833+48A>G (n.*833+48A>G)
c.1173+48A>G (n.1173+48A>G)
c.1170+48A>G (n.1170+48A>G)
c.983-9493A>G
c.1074+48A>G (n.1074+48A>G)
c.947+48A>G
c.915+48A>G (n.915+48A>G)
c.332+48A>G
c.753+48A>G
c.1049+48A>G
c.819+48A>G (n.819+48A>G)
n.573A>G
n.386+48A>G
c.623+48A>G
c.520+48A>G
c.819+48A>G
c.1077+48A>G (n.1077+48A>G)
n.865+48A>G
c.674-1338A>G
 gnomAD v4
2g.32127071A>CCA2658526640SPASTc.*833+49A>C (n.*833+49A>C)
c.1173+49A>C (n.1173+49A>C)
c.1170+49A>C (n.1170+49A>C)
c.983-9492A>C
c.1074+49A>C (n.1074+49A>C)
c.947+49A>C
c.915+49A>C (n.915+49A>C)
c.332+49A>C
c.753+49A>C
c.1049+49A>C
c.819+49A>C (n.819+49A>C)
n.574A>C
n.386+49A>C
c.623+49A>C
c.520+49A>C
c.819+49A>C
c.1077+49A>C (n.1077+49A>C)
n.865+49A>C
c.674-1337A>C
 gnomAD v4
2g.32127071A>GCA2658526641SPASTc.*833+49A>G (n.*833+49A>G)
c.1173+49A>G (n.1173+49A>G)
c.1170+49A>G (n.1170+49A>G)
c.983-9492A>G
c.1074+49A>G (n.1074+49A>G)
c.947+49A>G
c.915+49A>G (n.915+49A>G)
c.332+49A>G
c.753+49A>G
c.1049+49A>G
c.819+49A>G (n.819+49A>G)
n.574A>G
n.386+49A>G
c.623+49A>G
c.520+49A>G
c.819+49A>G
c.1077+49A>G (n.1077+49A>G)
n.865+49A>G
c.674-1337A>G
 gnomAD v4
2g.32127071A>TCA2658526642SPASTc.*833+49A>T (n.*833+49A>T)
c.1173+49A>T (n.1173+49A>T)
c.1170+49A>T (n.1170+49A>T)
c.983-9492A>T
c.1074+49A>T (n.1074+49A>T)
c.947+49A>T
c.915+49A>T (n.915+49A>T)
c.332+49A>T
c.753+49A>T
c.1049+49A>T
c.819+49A>T (n.819+49A>T)
n.574A>T
n.386+49A>T
c.623+49A>T
c.520+49A>T
c.819+49A>T
c.1077+49A>T (n.1077+49A>T)
n.865+49A>T
c.674-1337A>T
 gnomAD v4
2g.32127072T>ACA2658526643SPASTc.*833+50T>A (n.*833+50T>A)
c.1173+50T>A (n.1173+50T>A)
c.1170+50T>A (n.1170+50T>A)
c.983-9491T>A
c.1074+50T>A (n.1074+50T>A)
c.947+50T>A
c.915+50T>A (n.915+50T>A)
c.332+50T>A
c.753+50T>A
c.1049+50T>A
c.819+50T>A (n.819+50T>A)
n.575T>A
n.386+50T>A
c.623+50T>A
c.520+50T>A
c.819+50T>A
c.1077+50T>A (n.1077+50T>A)
n.865+50T>A
c.674-1336T>A
 gnomAD v4

Number of alleles fetched