Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32063148_32067182delCA339677 ClinVar
2g.32063720_32066025delCA325517SPASTc.-112_446del
c.-112_415+1779del
 ClinVar
2g.32063966G>ACA1600499SPASTc.135G>A (p.Pro45=)
c.19G>A
c.5G>A
c.11G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.32063966G>CCA425627222SPASTc.135G>C (p.Pro45=)
c.19G>C
c.5G>C
c.11G>C
 dbSNP gnomAD v2 gnomAD v4
2g.32063966G=CA1242461664SPASTc.135G= (p.Pro45=)
c.19G=
c.5G=
c.11G=
2g.32063966G>TCA425627224SPASTc.135G>T (p.Pro45=)
c.19G>T
c.5G>T
c.11G>T
2g.32063967C>ACA346601422SPASTc.136C>A (p.His46Asn)
c.20C>A
c.6C>A
c.12C>A
2g.32063967C>GCA346601423SPASTc.136C>G (p.His46Asp)
c.20C>G
c.6C>G
c.12C>G
2g.32063967C>TCA346601426SPASTc.136C>T (p.His46Tyr)
c.20C>T
c.6C>T
c.12C>T
2g.32063968A=CA1242461665SPASTc.137A= (p.His46=)
c.21A=
c.7A=
c.-122A= (n.-122A=)
c.13A=
2g.32063968A>CCA346601429SPASTc.137A>C (p.His46Pro)
c.21A>C
c.7A>C
c.-122A>C (n.-122A>C)
c.13A>C
 gnomAD v4 COSMIC
2g.32063968A>GCA1600500SPASTc.137A>G (p.His46Arg)
c.21A>G
c.7A>G
c.-122A>G (n.-122A>G)
c.13A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063968A>TCA346601428SPASTc.137A>T (p.His46Leu)
c.21A>T
c.7A>T
c.-122A>T (n.-122A>T)
c.13A>T
2g.32063969T>ACA45201391SPASTc.138T>A (p.His46Gln)
c.22T>A
c.8T>A
c.-121T>A (n.-121T>A)
c.14T>A
 dbSNP
2g.32063969T>CCA425627231SPASTc.138T>C (p.His46=)
c.22T>C
c.8T>C
c.-121T>C (n.-121T>C)
c.14T>C
 dbSNP
2g.32063969T>GCA346601432SPASTc.138T>G (p.His46Gln)
c.22T>G
c.8T>G
c.-121T>G (n.-121T>G)
c.14T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32063969T=CA1242461666SPASTc.138T= (p.His46=)
c.22T=
c.8T=
c.-121T= (n.-121T=)
c.14T=
2g.32063970A=CA1242461667SPASTc.139A= (p.Lys47=)
c.23A=
c.9A=
c.-120A= (n.-120A=)
c.15A=
2g.32063970A>CCA346601434SPASTc.139A>C (p.Lys47Gln)
c.23A>C
c.9A>C
c.-120A>C (n.-120A>C)
c.15A>C
 gnomAD v4
2g.32063970A>GCA346601436SPASTc.139A>G (p.Lys47Glu)
c.23A>G
c.9A>G
c.-120A>G (n.-120A>G)
c.15A>G
 gnomAD v4
2g.32063970A>TCA346601438SPASTc.139A>T (p.Lys47Ter)
c.23A>T
c.9A>T
c.-120A>T (n.-120A>T)
c.15A>T
 ClinVar dbSNP
2g.32063971A=CA1242461668SPASTc.140A= (p.Lys47=)
c.24A=
c.10A=
c.-119A= (n.-119A=)
c.16A=
2g.32063971A>CCA346601439SPASTc.140A>C (p.Lys47Thr)
c.24A>C
c.10A>C
c.-119A>C (n.-119A>C)
c.16A>C
 gnomAD v4
2g.32063971A>GCA346601443SPASTc.140A>G (p.Lys47Arg)
c.24A>G
c.10A>G
c.-119A>G (n.-119A>G)
c.16A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32063971A>TCA346601441SPASTc.140A>T (p.Lys47Met)
c.24A>T
c.10A>T
c.-119A>T (n.-119A>T)
c.16A>T
2g.32063972G>ACA1600501SPASTc.141G>A (p.Lys47=)
c.25G>A
c.11G>A
c.-118G>A (n.-118G>A)
c.17G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063972G>CCA346601445SPASTc.141G>C (p.Lys47Asn)
c.25G>C
c.11G>C
c.-118G>C (n.-118G>C)
c.17G>C
2g.32063972G=CA1242461669SPASTc.141G= (p.Lys47=)
c.25G=
c.11G=
c.-118G= (n.-118G=)
c.17G=
2g.32063972G>TCA346601447SPASTc.141G>T (p.Lys47Asn)
c.25G>T
c.11G>T
c.-118G>T (n.-118G>T)
c.17G>T
2g.32063973C>ACA425627239SPASTc.142C>A (p.Arg48=)
c.26C>A
c.12C>A
c.-117C>A (n.-117C>A)
c.18C>A
 gnomAD v4
2g.32063973C=CA1242461670SPASTc.142C= (p.Arg48=)
c.26C=
c.12C=
c.-117C= (n.-117C=)
c.18C=
2g.32063973C>GCA346601448SPASTc.142C>G (p.Arg48Gly)
c.26C>G
c.12C>G
c.-117C>G (n.-117C>G)
c.18C>G
 gnomAD v4
2g.32063973C>TCA346601449SPASTc.142C>T (p.Arg48Trp)
c.26C>T
c.12C>T
c.-117C>T (n.-117C>T)
c.18C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063974G>ACA1600503SPASTc.143G>A (p.Arg48Gln)
c.27G>A
c.13G>A
c.-116G>A (n.-116G>A)
c.19G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063974G>CCA346601452SPASTc.143G>C (p.Arg48Pro)
c.27G>C
c.13G>C
c.-116G>C (n.-116G>C)
c.19G>C
2g.32063974G=CA1242461671SPASTc.143G= (p.Arg48=)
c.27G=
c.13G=
c.-116G= (n.-116G=)
c.19G=
2g.32063974G>TCA1600502SPASTc.143G>T (p.Arg48Leu)
c.27G>T
c.13G>T
c.-116G>T (n.-116G>T)
c.19G>T
 dbSNP ExAC
2g.32063975G>ACA425627250SPASTc.144G>A (p.Arg48=)
c.28G>A
c.14G>A
c.-115G>A (n.-115G>A)
c.20G>A
 gnomAD v4
2g.32063975G>CCA425627248SPASTc.144G>C (p.Arg48=)
c.28G>C
c.14G>C
c.-115G>C (n.-115G>C)
c.20G>C
2g.32063975G>TCA425627247SPASTc.144G>T (p.Arg48=)
c.28G>T
c.14G>T
c.-115G>T (n.-115G>T)
c.20G>T
2g.32063976A>CCA346601454SPASTc.145A>C (p.Asn49His)
c.29A>C
c.15A>C
c.-114A>C (n.-114A>C)
c.21A>C
2g.32063976A>GCA346601455SPASTc.145A>G (p.Asn49Asp)
c.29A>G
c.15A>G
c.-114A>G (n.-114A>G)
c.21A>G
2g.32063976A>TCA346601457SPASTc.145A>T (p.Asn49Tyr)
c.29A>T
c.15A>T
c.-114A>T (n.-114A>T)
c.21A>T
2g.32063977A>CCA346601462SPASTc.146A>C (p.Asn49Thr)
c.30A>C
c.16A>C
c.-113A>C (n.-113A>C)
c.22A>C
2g.32063977A>GCA346601460SPASTc.146A>G (p.Asn49Ser)
c.30A>G
c.16A>G
c.-113A>G (n.-113A>G)
c.22A>G
2g.32063977A>TCA346601459SPASTc.146A>T (p.Asn49Ile)
c.30A>T
c.16A>T
c.-113A>T (n.-113A>T)
c.22A>T
2g.32063978C>ACA346601464SPASTc.147C>A (p.Asn49Lys)
c.31C>A
c.17C>A
c.-112C>A (n.-112C>A)
c.23C>A
 dbSNP gnomAD v2 gnomAD v4
2g.32063978C=CA1242461672SPASTc.147C= (p.Asn49=)
c.31C=
c.17C=
c.-112C= (n.-112C=)
c.23C=
2g.32063978C>GCA346601466SPASTc.147C>G (p.Asn49Lys)
c.31C>G
c.17C>G
c.-112C>G (n.-112C>G)
c.23C>G
2g.32063978C>TCA425627258SPASTc.147C>T (p.Asn49=)
c.31C>T
c.17C>T
c.-112C>T (n.-112C>T)
c.23C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063979C>ACA346601467SPASTc.148C>A (p.Leu50Met)
c.32C>A
c.18C>A
c.-111C>A (n.-111C>A)
c.24C>A
2g.32063979C=CA1242461673SPASTc.148C= (p.Leu50=)
c.32C=
c.18C=
c.-111C= (n.-111C=)
c.24C=
2g.32063979C>GCA346601469SPASTc.148C>G (p.Leu50Val)
c.32C>G
c.18C>G
c.-111C>G (n.-111C>G)
c.24C>G
2g.32063979C>TCA1600504SPASTc.148C>T (p.Leu50=)
c.32C>T
c.18C>T
c.-111C>T (n.-111C>T)
c.24C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063980T>ACA346601472SPASTc.149T>A (p.Leu50Gln)
c.33T>A
c.19T>A
c.-110T>A (n.-110T>A)
c.25T>A
 dbSNP gnomAD v2 gnomAD v4
2g.32063980T>CCA346601474SPASTc.149T>C (p.Leu50Pro)
c.33T>C
c.19T>C
c.-110T>C (n.-110T>C)
c.25T>C
 ClinVar
2g.32063980T>GCA346601476SPASTc.149T>G (p.Leu50Arg)
c.33T>G
c.19T>G
c.-110T>G (n.-110T>G)
c.25T>G
 dbSNP
2g.32063980T=CA1242461674SPASTc.149T= (p.Leu50=)
c.33T=
c.19T=
c.-110T= (n.-110T=)
c.25T=
2g.32063981G>ACA425627273SPASTc.150G>A (p.Leu50=)
c.34G>A
c.20G>A
c.-109G>A (n.-109G>A)
c.26G>A
 gnomAD v4
2g.32063981G>CCA425627276SPASTc.150G>C (p.Leu50=)
c.34G>C
c.20G>C
c.-109G>C (n.-109G>C)
c.26G>C
2g.32063981G>TCA425627274SPASTc.150G>T (p.Leu50=)
c.34G>T
c.20G>T
c.-109G>T (n.-109G>T)
c.26G>T
2g.32063982T>ACA346601481SPASTc.151T>A (p.Tyr51Asn)
c.35T>A
c.21T>A
c.-108T>A (n.-108T>A)
c.27T>A
2g.32063982T>CCA346601477SPASTc.151T>C (p.Tyr51His)
c.35T>C
c.21T>C
c.-108T>C (n.-108T>C)
c.27T>C
2g.32063982T>GCA346601479SPASTc.151T>G (p.Tyr51Asp)
c.35T>G
c.21T>G
c.-108T>G (n.-108T>G)
c.27T>G
2g.32063983A=CA1242461675SPASTc.152A= (p.Tyr51=)
c.36A=
c.22A=
c.-107A= (n.-107A=)
c.28A=
2g.32063983A>CCA346601483SPASTc.152A>C (p.Tyr51Ser)
c.36A>C
c.22A>C
c.-107A>C (n.-107A>C)
c.28A>C
2g.32063983A>GCA346601485SPASTc.152A>G (p.Tyr51Cys)
c.36A>G
c.22A>G
c.-107A>G (n.-107A>G)
c.28A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063983A>TCA346601487SPASTc.152A>T (p.Tyr51Phe)
c.36A>T
c.22A>T
c.-107A>T (n.-107A>T)
c.28A>T
2g.32063984C>ACA346601488SPASTc.153C>A (p.Tyr51Ter)
c.37C>A
c.23C>A
c.-106C>A (n.-106C>A)
c.29C>A
2g.32063984C=CA1242461676SPASTc.153C= (p.Tyr51=)
c.37C=
c.23C=
c.-106C= (n.-106C=)
c.29C=
2g.32063984C>GCA346601490SPASTc.153C>G (p.Tyr51Ter)
c.37C>G
c.23C>G
c.-106C>G (n.-106C>G)
c.29C>G
 ClinVar dbSNP gnomAD v4
2g.32063984C>TCA425627294SPASTc.153C>T (p.Tyr51=)
c.37C>T
c.23C>T
c.-106C>T (n.-106C>T)
c.29C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32063985T>ACA346601492SPASTc.154T>A (p.Tyr52Asn)
c.38T>A
c.24T>A
c.-105T>A (n.-105T>A)
c.30T>A
2g.32063985T>CCA346601495SPASTc.154T>C (p.Tyr52His)
c.38T>C
c.24T>C
c.-105T>C (n.-105T>C)
c.30T>C
 gnomAD v4
2g.32063985T>GCA346601493SPASTc.154T>G (p.Tyr52Asp)
c.38T>G
c.24T>G
c.-105T>G (n.-105T>G)
c.30T>G
2g.32063986_32063987dupCA2586968936SPASTc.155_156dup (p.Phe53IlefsTer8)
c.39_40dup
c.25_26dup
c.-104_-103dup (n.-104_-103dup)
c.31_32dup
2g.32063986A=CA1242461677SPASTc.155A= (p.Tyr52=)
c.39A=
c.25A=
c.-104A= (n.-104A=)
c.31A=
2g.32063986A>CCA346601496SPASTc.155A>C (p.Tyr52Ser)
c.39A>C
c.25A>C
c.-104A>C (n.-104A>C)
c.31A>C
2g.32063986A>GCA1600505SPASTc.155A>G (p.Tyr52Cys)
c.39A>G
c.25A>G
c.-104A>G (n.-104A>G)
c.31A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063986A>TCA346601499SPASTc.155A>T (p.Tyr52Phe)
c.39A>T
c.25A>T
c.-104A>T (n.-104A>T)
c.31A>T
2g.32063987T>ACA346601501SPASTc.156T>A (p.Tyr52Ter)
c.40T>A
c.26T>A
c.-103T>A (n.-103T>A)
c.32T>A
 ClinVar dbSNP
2g.32063987T>CCA425627308SPASTc.156T>C (p.Tyr52=)
c.40T>C
c.26T>C
c.-103T>C (n.-103T>C)
c.32T>C
2g.32063987T>GCA346601502SPASTc.156T>G (p.Tyr52Ter)
c.40T>G
c.26T>G
c.-103T>G (n.-103T>G)
c.32T>G
 ClinVar dbSNP
2g.32063987T=CA1242461678SPASTc.156T= (p.Tyr52=)
c.40T=
c.26T=
c.-103T= (n.-103T=)
c.32T=
2g.32063988T>ACA346601505SPASTc.157T>A (p.Phe53Ile)
c.41T>A
c.27T>A
c.-102T>A (n.-102T>A)
c.33T>A
 gnomAD v4
2g.32063988T>CCA346601506SPASTc.157T>C (p.Phe53Leu)
c.41T>C
c.27T>C
c.-102T>C (n.-102T>C)
c.33T>C
 ClinVar dbSNP
2g.32063988T>GCA1600506SPASTc.157T>G (p.Phe53Val)
c.41T>G
c.27T>G
c.-102T>G (n.-102T>G)
c.33T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063988T=CA1242461679SPASTc.157T= (p.Phe53=)
c.41T=
c.27T=
c.-102T= (n.-102T=)
c.33T=
2g.32063989T>ACA346601509SPASTc.158T>A (p.Phe53Tyr)
c.42T>A
c.28T>A
c.-101T>A (n.-101T>A)
c.34T>A
2g.32063989T>CCA346601511SPASTc.158T>C (p.Phe53Ser)
c.42T>C
c.28T>C
c.-101T>C (n.-101T>C)
c.34T>C
2g.32063989T>GCA346601512SPASTc.158T>G (p.Phe53Cys)
c.42T>G
c.28T>G
c.-101T>G (n.-101T>G)
c.34T>G
2g.32063990C>ACA346601516SPASTc.159C>A (p.Phe53Leu)
c.43C>A
c.29C>A
c.-100C>A (n.-100C>A)
c.35C>A
2g.32063990C=CA1242461680SPASTc.159C= (p.Phe53=)
c.43C=
c.29C=
c.-100C= (n.-100C=)
c.35C=
2g.32063990C>GCA346601515SPASTc.159C>G (p.Phe53Leu)
c.43C>G
c.29C>G
c.-100C>G (n.-100C>G)
c.35C>G
 dbSNP
2g.32063990C>TCA1600507SPASTc.159C>T (p.Phe53=)
c.43C>T
c.29C>T
c.-100C>T (n.-100C>T)
c.35C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063991T>ACA346601520SPASTc.160T>A (p.Ser54Thr)
c.44T>A
c.30T>A
c.-99T>A (n.-99T>A)
c.36T>A
c.1T>A (p.Ser1Thr)
2g.32063991T>CCA346601518SPASTc.160T>C (p.Ser54Pro)
c.44T>C
c.30T>C
c.-99T>C (n.-99T>C)
c.36T>C
c.1T>C (p.Ser1Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063991T>GCA1600508SPASTc.160T>G (p.Ser54Ala)
c.44T>G
c.30T>G
c.-99T>G (n.-99T>G)
c.36T>G
c.1T>G (p.Ser1Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063991T=CA1242461681SPASTc.160T= (p.Ser54=)
c.44T=
c.30T=
c.-99T= (n.-99T=)
c.36T=
c.1T= (p.Ser1=)
2g.32063992C>ACA346601522SPASTc.161C>A (p.Ser54Tyr)
c.45C>A
c.31C>A
c.-98C>A (n.-98C>A)
c.37C>A
c.2C>A (p.Ser1Tyr)
2g.32063992C=CA1242461682SPASTc.161C= (p.Ser54=)
c.45C=
c.31C=
c.-98C= (n.-98C=)
c.37C=
c.2C= (p.Ser1=)
2g.32063992C>GCA1600509SPASTc.161C>G (p.Ser54Cys)
c.45C>G
c.31C>G
c.-98C>G (n.-98C>G)
c.37C>G
c.2C>G (p.Ser1Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063992C>TCA346601524SPASTc.161C>T (p.Ser54Phe)
c.45C>T
c.31C>T
c.-98C>T (n.-98C>T)
c.37C>T
c.2C>T (p.Ser1Phe)
2g.32063993C>ACA425627332SPASTc.162C>A (p.Ser54=)
c.46C>A
c.32C>A
c.-97C>A (n.-97C>A)
c.38C>A
c.3C>A (p.Ser1=)
2g.32063993C=CA1242461683SPASTc.162C= (p.Ser54=)
c.46C=
c.32C=
c.-97C= (n.-97C=)
c.38C=
c.3C= (p.Ser1=)
2g.32063993C>GCA45201392SPASTc.162C>G (p.Ser54=)
c.46C>G
c.32C>G
c.-97C>G (n.-97C>G)
c.38C>G
c.3C>G (p.Ser1=)
 dbSNP
2g.32063993C>TCA1600510SPASTc.162C>T (p.Ser54=)
c.46C>T
c.32C>T
c.-97C>T (n.-97C>T)
c.38C>T
c.3C>T (p.Ser1=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063995_32064012dupCA2658519897SPASTc.164_181dup (p.Gly60_Phe61insTyrProLeuPheValGly)
c.48_65dup
c.34_51dup
c.-95_-78dup (n.-95_-78dup)
c.40_57dup
c.5_22dup (p.Gly7_Phe8insTyrProLeuPheValGly)
 gnomAD v4
2g.32063994T>ACA346601529SPASTc.163T>A (p.Tyr55Asn)
c.47T>A
c.33T>A
c.-96T>A (n.-96T>A)
c.39T>A
c.4T>A (p.Tyr2Asn)
2g.32063994T>CCA346601528SPASTc.163T>C (p.Tyr55His)
c.47T>C
c.33T>C
c.-96T>C (n.-96T>C)
c.39T>C
c.4T>C (p.Tyr2His)
 gnomAD v4
2g.32063994T>GCA346601527SPASTc.163T>G (p.Tyr55Asp)
c.47T>G
c.33T>G
c.-96T>G (n.-96T>G)
c.39T>G
c.4T>G (p.Tyr2Asp)
 gnomAD v4
2g.32063995delCA2586968937SPASTc.164del (p.Tyr55SerfsTer5)
c.48del
c.34del
c.-95del (n.-95del)
c.40del
c.5del (p.Tyr2SerfsTer5)
2g.32063995A>CCA346601531SPASTc.164A>C (p.Tyr55Ser)
c.48A>C
c.34A>C
c.-95A>C (n.-95A>C)
c.40A>C
c.5A>C (p.Tyr2Ser)
 ClinVar gnomAD v4
2g.32063995A>GCA346601533SPASTc.164A>G (p.Tyr55Cys)
c.48A>G
c.34A>G
c.-95A>G (n.-95A>G)
c.40A>G
c.5A>G (p.Tyr2Cys)
 gnomAD v4 COSMIC
2g.32063995A>TCA346601537SPASTc.164A>T (p.Tyr55Phe)
c.48A>T
c.34A>T
c.-95A>T (n.-95A>T)
c.40A>T
c.5A>T (p.Tyr2Phe)
2g.32063996C>ACA346601539SPASTc.165C>A (p.Tyr55Ter)
c.49C>A
c.35C>A
c.-94C>A (n.-94C>A)
c.41C>A
c.6C>A (p.Tyr2Ter)
 ClinVar dbSNP
2g.32063996C=CA1242461685SPASTc.165C= (p.Tyr55=)
c.49C=
c.35C=
c.-94C= (n.-94C=)
c.41C=
c.6C= (p.Tyr2=)
2g.32063996C>GCA346601541SPASTc.165C>G (p.Tyr55Ter)
c.49C>G
c.35C>G
c.-94C>G (n.-94C>G)
c.41C>G
c.6C>G (p.Tyr2Ter)
 ClinVar
2g.32063996C>TCA1600511SPASTc.165C>T (p.Tyr55=)
c.49C>T
c.35C>T
c.-94C>T (n.-94C>T)
c.41C>T
c.6C>T (p.Tyr2=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063998dupCA2580066379SPASTc.167dup (p.Leu57AlafsTer?)
c.51dup
c.37dup
c.-92dup (n.-92dup)
c.43dup
c.8dup (p.Leu4AlafsTer?)
 ClinVar
2g.32063998delCA2586968938SPASTc.167del (p.Pro56ArgfsTer4)
c.51del
c.37del
c.-92del (n.-92del)
c.43del
c.8del (p.Pro3ArgfsTer4)
 gnomAD v4
2g.32063996_32064006delinsCCCGCTGTTTGCA1242461684SPASTc.165_175delinsCCCGCTGTTTG (p.Tyr55=)
c.49_59delinsCCCGCTGTTTG
c.35_45delinsCCCGCTGTTTG
c.-94_-84delinsCCCGCTGTTTG (n.-94_-84delinsCCCGCTGTTTG)
c.41_51delinsCCCGCTGTTTG
c.6_16delinsCCCGCTGTTTG (p.Tyr2=)
2g.32063997C>ACA346601544SPASTc.166C>A (p.Pro56Thr)
c.50C>A
c.36C>A
c.-93C>A (n.-93C>A)
c.42C>A
c.7C>A (p.Pro3Thr)
2g.32063997C>GCA346601548SPASTc.166C>G (p.Pro56Ala)
c.50C>G
c.36C>G
c.-93C>G (n.-93C>G)
c.42C>G
c.7C>G (p.Pro3Ala)
 gnomAD v4
2g.32063997C>TCA346601546SPASTc.166C>T (p.Pro56Ser)
c.50C>T
c.36C>T
c.-93C>T (n.-93C>T)
c.42C>T
c.7C>T (p.Pro3Ser)
 gnomAD v4
2g.32063997_32064005delCA2576929933SPASTc.166_174del (p.Pro56_Phe58del)
c.50_58del
c.36_44del
c.-93_-85del (n.-93_-85del)
c.42_50del
c.7_15del (p.Pro3_Phe5del)
 gnomAD v4
2g.32063997_32064006delCA658795705SPASTc.166_175del (p.Pro56Ter)
c.50_59del
c.36_45del
c.-93_-84del (n.-93_-84del)
c.42_51del
c.7_16del (p.Pro3Ter)
 ClinVar dbSNP gnomAD v4
2g.32063998C>ACA346601550SPASTc.167C>A (p.Pro56Gln)
c.51C>A
c.37C>A
c.-92C>A (n.-92C>A)
c.43C>A
c.8C>A (p.Pro3Gln)
c.1C>A
 ClinVar dbSNP gnomAD v4
2g.32063998C=CA1242461686SPASTc.167C= (p.Pro56=)
c.51C=
c.37C=
c.-92C= (n.-92C=)
c.43C=
c.8C= (p.Pro3=)
c.1C=
2g.32063998C>GCA346601551SPASTc.167C>G (p.Pro56Arg)
c.51C>G
c.37C>G
c.-92C>G (n.-92C>G)
c.43C>G
c.8C>G (p.Pro3Arg)
c.1C>G
 ClinVar
2g.32063998C>TCA346601553SPASTc.167C>T (p.Pro56Leu)
c.51C>T
c.37C>T
c.-92C>T (n.-92C>T)
c.43C>T
c.8C>T (p.Pro3Leu)
c.1C>T
 ClinVar dbSNP gnomAD v4
2g.32063999G>ACA1600512SPASTc.168G>A (p.Pro56=)
c.52G>A
c.38G>A
c.-91G>A (n.-91G>A)
c.44G>A
c.9G>A (p.Pro3=)
c.2G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063999G>CCA425627373SPASTc.168G>C (p.Pro56=)
c.52G>C
c.38G>C
c.-91G>C (n.-91G>C)
c.44G>C
c.9G>C (p.Pro3=)
c.2G>C
2g.32063999G=CA1242461687SPASTc.168G= (p.Pro56=)
c.52G=
c.38G=
c.-91G= (n.-91G=)
c.44G=
c.9G= (p.Pro3=)
c.2G=
2g.32063999G>TCA425627375SPASTc.168G>T (p.Pro56=)
c.52G>T
c.38G>T
c.-91G>T (n.-91G>T)
c.44G>T
c.9G>T (p.Pro3=)
c.2G>T
 gnomAD v4
2g.32064000C>ACA346601555SPASTc.169C>A (p.Leu57Met)
c.53C>A
c.39C>A
c.-90C>A (n.-90C>A)
c.45C>A
c.10C>A (p.Leu4Met)
c.3C>A
2g.32064000C>GCA346601557SPASTc.169C>G (p.Leu57Val)
c.53C>G
c.39C>G
c.-90C>G (n.-90C>G)
c.45C>G
c.10C>G (p.Leu4Val)
c.3C>G
2g.32064000C>TCA425627378SPASTc.169C>T (p.Leu57=)
c.53C>T
c.39C>T
c.-90C>T (n.-90C>T)
c.45C>T
c.10C>T (p.Leu4=)
c.3C>T
2g.32064001T>ACA346601559SPASTc.170T>A (p.Leu57Gln)
c.54T>A
c.40T>A
c.-89T>A (n.-89T>A)
c.46T>A
c.11T>A (p.Leu4Gln)
c.4T>A
2g.32064001T>CCA346601561SPASTc.170T>C (p.Leu57Pro)
c.54T>C
c.40T>C
c.-89T>C (n.-89T>C)
c.46T>C
c.11T>C (p.Leu4Pro)
c.4T>C
2g.32064001T>GCA346601563SPASTc.170T>G (p.Leu57Arg)
c.54T>G
c.40T>G
c.-89T>G (n.-89T>G)
c.46T>G
c.11T>G (p.Leu4Arg)
c.4T>G
2g.32064002G>ACA425627384SPASTc.171G>A (p.Leu57=)
c.55G>A
c.41G>A
c.-88G>A (n.-88G>A)
c.47G>A
c.12G>A (p.Leu4=)
c.5G>A
2g.32064002G>CCA16604471SPASTc.171G>C (p.Leu57=)
c.55G>C
c.41G>C
c.-88G>C (n.-88G>C)
c.47G>C
c.12G>C (p.Leu4=)
c.5G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064002G=CA1242461688SPASTc.171G= (p.Leu57=)
c.55G=
c.41G=
c.-88G= (n.-88G=)
c.47G=
c.12G= (p.Leu4=)
c.5G=
2g.32064002G>TCA425627382SPASTc.171G>T (p.Leu57=)
c.55G>T
c.41G>T
c.-88G>T (n.-88G>T)
c.47G>T
c.12G>T (p.Leu4=)
c.5G>T
2g.32064003T>ACA346601565SPASTc.172T>A (p.Phe58Ile)
c.56T>A
c.42T>A
c.-87T>A (n.-87T>A)
c.48T>A
c.13T>A (p.Phe5Ile)
c.6T>A
2g.32064003T>CCA346601567SPASTc.172T>C (p.Phe58Leu)
c.56T>C
c.42T>C
c.-87T>C (n.-87T>C)
c.48T>C
c.13T>C (p.Phe5Leu)
c.6T>C
 gnomAD v4
2g.32064003T>GCA346601569SPASTc.172T>G (p.Phe58Val)
c.56T>G
c.42T>G
c.-87T>G (n.-87T>G)
c.48T>G
c.13T>G (p.Phe5Val)
c.6T>G
2g.32064004T>ACA346601571SPASTc.173T>A (p.Phe58Tyr)
c.57T>A
c.43T>A
c.-86T>A (n.-86T>A)
c.49T>A
c.14T>A (p.Phe5Tyr)
c.7T>A
2g.32064004T>CCA346601572SPASTc.173T>C (p.Phe58Ser)
c.57T>C
c.43T>C
c.-86T>C (n.-86T>C)
c.49T>C
c.14T>C (p.Phe5Ser)
c.7T>C
2g.32064004T>GCA45201393SPASTc.173T>G (p.Phe58Cys)
c.57T>G
c.43T>G
c.-86T>G (n.-86T>G)
c.49T>G
c.14T>G (p.Phe5Cys)
c.7T>G
 dbSNP
2g.32064004T=CA1242461689SPASTc.173T= (p.Phe58=)
c.57T=
c.43T=
c.-86T= (n.-86T=)
c.49T=
c.14T= (p.Phe5=)
c.7T=
2g.32064005T>ACA346601574SPASTc.174T>A (p.Phe58Leu)
c.58T>A
c.44T>A
c.-85T>A (n.-85T>A)
c.50T>A
c.15T>A (p.Phe5Leu)
c.8T>A
2g.32064005T>CCA1600513SPASTc.174T>C (p.Phe58=)
c.58T>C
c.44T>C
c.-85T>C (n.-85T>C)
c.50T>C
c.15T>C (p.Phe5=)
c.8T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064005T>GCA346601576SPASTc.174T>G (p.Phe58Leu)
c.58T>G
c.44T>G
c.-85T>G (n.-85T>G)
c.50T>G
c.15T>G (p.Phe5Leu)
c.8T>G
 dbSNP
2g.32064005T=CA1242461690SPASTc.174T= (p.Phe58=)
c.58T=
c.44T=
c.-85T= (n.-85T=)
c.50T=
c.15T= (p.Phe5=)
c.8T=
2g.32064006G>ACA346601578SPASTc.175G>A (p.Val59Ile)
c.59G>A
c.45G>A
c.-84G>A (n.-84G>A)
c.51G>A
c.16G>A (p.Val6Ile)
c.9G>A
 gnomAD v4
2g.32064006G>CCA346601580SPASTc.175G>C (p.Val59Leu)
c.59G>C
c.45G>C
c.-84G>C (n.-84G>C)
c.51G>C
c.16G>C (p.Val6Leu)
c.9G>C
 gnomAD v4 COSMIC
2g.32064006G>TCA346601582SPASTc.175G>T (p.Val59Leu)
c.59G>T
c.45G>T
c.-84G>T (n.-84G>T)
c.51G>T
c.16G>T (p.Val6Leu)
c.9G>T
2g.32064007T>ACA346601584SPASTc.176T>A (p.Val59Glu)
c.60T>A
c.46T>A
c.-83T>A (n.-83T>A)
c.52T>A
c.17T>A (p.Val6Glu)
c.10T>A
2g.32064007T>CCA45201394SPASTc.176T>C (p.Val59Ala)
c.60T>C
c.46T>C
c.-83T>C (n.-83T>C)
c.52T>C
c.17T>C (p.Val6Ala)
c.10T>C
 dbSNP gnomAD v3 gnomAD v4
2g.32064007T>GCA346601586SPASTc.176T>G (p.Val59Gly)
c.60T>G
c.46T>G
c.-83T>G (n.-83T>G)
c.52T>G
c.17T>G (p.Val6Gly)
c.10T>G
2g.32064007T=CA1242461691SPASTc.176T= (p.Val59=)
c.60T=
c.46T=
c.-83T= (n.-83T=)
c.52T=
c.17T= (p.Val6=)
c.10T=
2g.32064008A>CCA425627406SPASTc.177A>C (p.Val59=)
c.61A>C
c.47A>C
c.-82A>C (n.-82A>C)
c.53A>C
c.18A>C (p.Val6=)
c.11A>C
2g.32064008A>GCA425627411SPASTc.177A>G (p.Val59=)
c.61A>G
c.47A>G
c.-82A>G (n.-82A>G)
c.53A>G
c.18A>G (p.Val6=)
c.11A>G
 gnomAD v4
2g.32064008A>TCA425627408SPASTc.177A>T (p.Val59=)
c.61A>T
c.47A>T
c.-82A>T (n.-82A>T)
c.53A>T
c.18A>T (p.Val6=)
c.11A>T
2g.32064009G>ACA346601588SPASTc.178G>A (p.Gly60Ser)
c.62G>A
c.48G>A
c.-81G>A (n.-81G>A)
c.54G>A
c.19G>A (p.Gly7Ser)
c.12G>A
2g.32064009G>CCA346601589SPASTc.178G>C (p.Gly60Arg)
c.62G>C
c.48G>C
c.-81G>C (n.-81G>C)
c.54G>C
c.19G>C (p.Gly7Arg)
c.12G>C
2g.32064009G>TCA346601591SPASTc.178G>T (p.Gly60Cys)
c.62G>T
c.48G>T
c.-81G>T (n.-81G>T)
c.54G>T
c.19G>T (p.Gly7Cys)
c.12G>T
2g.32064010G>ACA346601594SPASTc.179G>A (p.Gly60Asp)
c.63G>A
c.49G>A
c.-80G>A (n.-80G>A)
c.55G>A
c.20G>A (p.Gly7Asp)
c.13G>A
 ClinVar dbSNP
2g.32064010G>CCA346601595SPASTc.179G>C (p.Gly60Ala)
c.63G>C
c.49G>C
c.-80G>C (n.-80G>C)
c.55G>C
c.20G>C (p.Gly7Ala)
c.13G>C
2g.32064010G=CA1242461692SPASTc.179G= (p.Gly60=)
c.63G=
c.49G=
c.-80G= (n.-80G=)
c.55G=
c.20G= (p.Gly7=)
c.13G=
2g.32064010G>TCA346601597SPASTc.179G>T (p.Gly60Val)
c.63G>T
c.49G>T
c.-80G>T (n.-80G>T)
c.55G>T
c.20G>T (p.Gly7Val)
c.13G>T
2g.32064011C>ACA425627423SPASTc.180C>A (p.Gly60=)
c.64C>A
c.50C>A
c.-79C>A (n.-79C>A)
c.56C>A
c.21C>A (p.Gly7=)
c.14C>A
2g.32064011C=CA1242461693SPASTc.180C= (p.Gly60=)
c.64C=
c.50C=
c.-79C= (n.-79C=)
c.56C=
c.21C= (p.Gly7=)
c.14C=
2g.32064011C>GCA425627424SPASTc.180C>G (p.Gly60=)
c.64C>G
c.50C>G
c.-79C>G (n.-79C>G)
c.56C>G
c.21C>G (p.Gly7=)
c.14C>G
 dbSNP
2g.32064011C>TCA425627426SPASTc.180C>T (p.Gly60=)
c.64C>T
c.50C>T
c.-79C>T (n.-79C>T)
c.56C>T
c.21C>T (p.Gly7=)
c.14C>T
 gnomAD v4
2g.32064012T>ACA346601602SPASTc.181T>A (p.Phe61Ile)
c.65T>A
c.51T>A
c.-78T>A (n.-78T>A)
c.57T>A
c.22T>A (p.Phe8Ile)
c.15T>A
2g.32064012T>CCA346601599SPASTc.181T>C (p.Phe61Leu)
c.65T>C
c.51T>C
c.-78T>C (n.-78T>C)
c.57T>C
c.22T>C (p.Phe8Leu)
c.15T>C
2g.32064012T>GCA346601601SPASTc.181T>G (p.Phe61Val)
c.65T>G
c.51T>G
c.-78T>G (n.-78T>G)
c.57T>G
c.22T>G (p.Phe8Val)
c.15T>G
2g.32064013T>ACA346601605SPASTc.182T>A (p.Phe61Tyr)
c.66T>A
c.52T>A
c.-77T>A (n.-77T>A)
c.58T>A
c.23T>A (p.Phe8Tyr)
c.16T>A
2g.32064013T>CCA346601606SPASTc.182T>C (p.Phe61Ser)
c.66T>C
c.52T>C
c.-77T>C (n.-77T>C)
c.58T>C
c.23T>C (p.Phe8Ser)
c.16T>C
2g.32064013T>GCA346601608SPASTc.182T>G (p.Phe61Cys)
c.66T>G
c.52T>G
c.-77T>G (n.-77T>G)
c.58T>G
c.23T>G (p.Phe8Cys)
c.16T>G
2g.32064014C>ACA346601609SPASTc.183C>A (p.Phe61Leu)
c.67C>A
c.53C>A
c.-76C>A (n.-76C>A)
c.59C>A
c.24C>A (p.Phe8Leu)
c.17C>A
2g.32064014C>GCA346601611SPASTc.183C>G (p.Phe61Leu)
c.67C>G
c.53C>G
c.-76C>G (n.-76C>G)
c.59C>G
c.24C>G (p.Phe8Leu)
c.17C>G
 ClinVar COSMIC
2g.32064014C>TCA425627444SPASTc.183C>T (p.Phe61=)
c.67C>T
c.53C>T
c.-76C>T (n.-76C>T)
c.59C>T
c.24C>T (p.Phe8=)
c.17C>T
2g.32064015G>ACA346601613SPASTc.184G>A (p.Ala62Thr)
c.68G>A
c.54G>A
c.-75G>A (n.-75G>A)
c.60G>A
c.25G>A (p.Ala9Thr)
c.18G>A
2g.32064015G>CCA346601614SPASTc.184G>C (p.Ala62Pro)
c.68G>C
c.54G>C
c.-75G>C (n.-75G>C)
c.60G>C
c.25G>C (p.Ala9Pro)
c.18G>C
2g.32064015G>TCA346601616SPASTc.184G>T (p.Ala62Ser)
c.68G>T
c.54G>T
c.-75G>T (n.-75G>T)
c.60G>T
c.25G>T (p.Ala9Ser)
c.18G>T
2g.32064016C>ACA346601617SPASTc.185C>A (p.Ala62Glu)
c.69C>A
c.55C>A
c.-74C>A (n.-74C>A)
c.61C>A
c.26C>A (p.Ala9Glu)
c.19C>A
 gnomAD v4
2g.32064016C=CA1242461694SPASTc.185C= (p.Ala62=)
c.69C=
c.55C=
c.-74C= (n.-74C=)
c.61C=
c.26C= (p.Ala9=)
c.19C=
2g.32064016C>GCA346601619SPASTc.185C>G (p.Ala62Gly)
c.69C>G
c.55C>G
c.-74C>G (n.-74C>G)
c.61C>G
c.26C>G (p.Ala9Gly)
c.19C>G
2g.32064016C>TCA1600514SPASTc.185C>T (p.Ala62Val)
c.69C>T
c.55C>T
c.-74C>T (n.-74C>T)
c.61C>T
c.26C>T (p.Ala9Val)
c.19C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064016dupCA2580066380SPASTc.185dup (p.Leu63AlafsTer?)
c.69dup
c.55dup
c.-74dup (n.-74dup)
c.61dup
c.26dup (p.Leu10AlafsTer?)
c.19dup
 ClinVar
2g.32064017G>ACA425627451SPASTc.186G>A (p.Ala62=)
c.70G>A
c.56G>A
c.-73G>A (n.-73G>A)
c.62G>A
c.27G>A (p.Ala9=)
c.20G>A
 gnomAD v4
2g.32064017G>CCA425627453SPASTc.186G>C (p.Ala62=)
c.70G>C
c.56G>C
c.-73G>C (n.-73G>C)
c.62G>C
c.27G>C (p.Ala9=)
c.20G>C
 COSMIC
2g.32064017G>TCA425627455SPASTc.186G>T (p.Ala62=)
c.70G>T
c.56G>T
c.-73G>T (n.-73G>T)
c.62G>T
c.27G>T (p.Ala9=)
c.20G>T
2g.32064022_32064024dupCA2580611615SPASTc.191_193dup (p.Leu64_Arg65insLeu)
c.75_77dup
c.61_63dup
c.-68_-66dup (n.-68_-66dup)
c.67_69dup
c.32_34dup (p.Leu11_Arg12insLeu)
c.25_27dup
 ClinVar
2g.32064018C>ACA346601624SPASTc.187C>A (p.Leu63Met)
c.71C>A
c.57C>A
c.-72C>A (n.-72C>A)
c.63C>A
c.28C>A (p.Leu10Met)
c.21C>A
2g.32064018C=CA1242461695SPASTc.187C= (p.Leu63=)
c.71C=
c.57C=
c.-72C= (n.-72C=)
c.63C=
c.28C= (p.Leu10=)
c.21C=
2g.32064018C>GCA346601623SPASTc.187C>G (p.Leu63Val)
c.71C>G
c.57C>G
c.-72C>G (n.-72C>G)
c.63C>G
c.28C>G (p.Leu10Val)
c.21C>G
 gnomAD v4
2g.32064018C>TCA1600515SPASTc.187C>T (p.Leu63=)
c.71C>T
c.57C>T
c.-72C>T (n.-72C>T)
c.63C>T
c.28C>T (p.Leu10=)
c.21C>T
 dbSNP ExAC gnomAD v4 COSMIC
2g.32064019T>ACA346601625SPASTc.188T>A (p.Leu63Gln)
c.72T>A
c.58T>A
c.-71T>A (n.-71T>A)
c.64T>A
c.29T>A (p.Leu10Gln)
c.22T>A
2g.32064019T>CCA346601626SPASTc.188T>C (p.Leu63Pro)
c.72T>C
c.58T>C
c.-71T>C (n.-71T>C)
c.64T>C
c.29T>C (p.Leu10Pro)
c.22T>C
2g.32064019T>GCA346601627SPASTc.188T>G (p.Leu63Arg)
c.72T>G
c.58T>G
c.-71T>G (n.-71T>G)
c.64T>G
c.29T>G (p.Leu10Arg)
c.22T>G
2g.32064020G>ACA425627470SPASTc.189G>A (p.Leu63=)
c.73G>A
c.59G>A
c.-70G>A (n.-70G>A)
c.65G>A
c.30G>A (p.Leu10=)
c.23G>A
 dbSNP gnomAD v4
2g.32064020G>CCA425627472SPASTc.189G>C (p.Leu63=)
c.73G>C
c.59G>C
c.-70G>C (n.-70G>C)
c.65G>C
c.30G>C (p.Leu10=)
c.23G>C
 ClinVar
2g.32064020G=CA1242461696SPASTc.189G= (p.Leu63=)
c.73G=
c.59G=
c.-70G= (n.-70G=)
c.65G=
c.30G= (p.Leu10=)
c.23G=
2g.32064020G>TCA425627473SPASTc.189G>T (p.Leu63=)
c.73G>T
c.59G>T
c.-70G>T (n.-70G>T)
c.65G>T
c.30G>T (p.Leu10=)
c.23G>T
 COSMIC
2g.32064021C>ACA346601628SPASTc.190C>A (p.Leu64Met)
c.74C>A
c.60C>A
c.-69C>A (n.-69C>A)
c.66C>A
c.31C>A (p.Leu11Met)
c.24C>A
2g.32064021C>GCA346601629SPASTc.190C>G (p.Leu64Val)
c.74C>G
c.60C>G
c.-69C>G (n.-69C>G)
c.66C>G
c.31C>G (p.Leu11Val)
c.24C>G
2g.32064021C>TCA425627480SPASTc.190C>T (p.Leu64=)
c.74C>T
c.60C>T
c.-69C>T (n.-69C>T)
c.66C>T
c.31C>T (p.Leu11=)
c.24C>T
 gnomAD v4
2g.32064022T>ACA346601630SPASTc.191T>A (p.Leu64Gln)
c.75T>A
c.61T>A
c.-68T>A (n.-68T>A)
c.67T>A
c.32T>A (p.Leu11Gln)
c.25T>A
2g.32064022T>CCA346601632SPASTc.191T>C (p.Leu64Pro)
c.75T>C
c.61T>C
c.-68T>C (n.-68T>C)
c.67T>C
c.32T>C (p.Leu11Pro)
c.25T>C
2g.32064022T>GCA346601634SPASTc.191T>G (p.Leu64Arg)
c.75T>G
c.61T>G
c.-68T>G (n.-68T>G)
c.67T>G
c.32T>G (p.Leu11Arg)
c.25T>G
2g.32064023G>ACA425627494SPASTc.192G>A (p.Leu64=)
c.76G>A
c.62G>A
c.-67G>A (n.-67G>A)
c.68G>A
c.33G>A (p.Leu11=)
c.26G>A
2g.32064023G>CCA425627490SPASTc.192G>C (p.Leu64=)
c.76G>C
c.62G>C
c.-67G>C (n.-67G>C)
c.68G>C
c.33G>C (p.Leu11=)
c.26G>C
2g.32064023G>TCA425627492SPASTc.192G>T (p.Leu64=)
c.76G>T
c.62G>T
c.-67G>T (n.-67G>T)
c.68G>T
c.33G>T (p.Leu11=)
c.26G>T
2g.32064024C>ACA346601635SPASTc.193C>A (p.Arg65Ser)
c.77C>A
c.63C>A
c.-66C>A (n.-66C>A)
c.69C>A
c.34C>A (p.Arg12Ser)
c.27C>A
2g.32064024C>GCA346601637SPASTc.193C>G (p.Arg65Gly)
c.77C>G
c.63C>G
c.-66C>G (n.-66C>G)
c.69C>G
c.34C>G (p.Arg12Gly)
c.27C>G
2g.32064024C>TCA346601640SPASTc.193C>T (p.Arg65Cys)
c.77C>T
c.63C>T
c.-66C>T (n.-66C>T)
c.69C>T
c.34C>T (p.Arg12Cys)
c.27C>T
2g.32064025G>ACA346601642SPASTc.194G>A (p.Arg65His)
c.78G>A
c.64G>A
c.-65G>A (n.-65G>A)
c.70G>A
c.35G>A (p.Arg12His)
c.28G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064025G>CCA346601644SPASTc.194G>C (p.Arg65Pro)
c.78G>C
c.64G>C
c.-65G>C (n.-65G>C)
c.70G>C
c.35G>C (p.Arg12Pro)
c.28G>C
 gnomAD v4
2g.32064025G=CA1242461697SPASTc.194G= (p.Arg65=)
c.78G=
c.64G=
c.-65G= (n.-65G=)
c.70G=
c.35G= (p.Arg12=)
c.28G=
2g.32064025G>TCA1600516SPASTc.194G>T (p.Arg65Leu)
c.78G>T
c.64G>T
c.-65G>T (n.-65G>T)
c.70G>T
c.35G>T (p.Arg12Leu)
c.28G>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.32064026T>ACA425627511SPASTc.195T>A (p.Arg65=)
c.79T>A
c.65T>A
c.-64T>A (n.-64T>A)
c.71T>A
c.36T>A (p.Arg12=)
c.29T>A
2g.32064026T>CCA425627522SPASTc.195T>C (p.Arg65=)
c.79T>C
c.65T>C
c.-64T>C (n.-64T>C)
c.71T>C
c.36T>C (p.Arg12=)
c.29T>C
2g.32064026T>GCA425627530SPASTc.195T>G (p.Arg65=)
c.79T>G
c.65T>G
c.-64T>G (n.-64T>G)
c.71T>G
c.36T>G (p.Arg12=)
c.29T>G
2g.32064027T>ACA346601647SPASTc.196T>A (p.Leu66Met)
c.80T>A
c.66T>A
c.-63T>A (n.-63T>A)
c.72T>A
c.37T>A (p.Leu13Met)
c.30T>A
2g.32064027T>CCA425627532SPASTc.196T>C (p.Leu66=)
c.80T>C
c.66T>C
c.-63T>C (n.-63T>C)
c.72T>C
c.37T>C (p.Leu13=)
c.30T>C
2g.32064027T>GCA346601649SPASTc.196T>G (p.Leu66Val)
c.80T>G
c.66T>G
c.-63T>G (n.-63T>G)
c.72T>G
c.37T>G (p.Leu13Val)
c.30T>G
2g.32064028T>ACA346601650SPASTc.197T>A (p.Leu66Ter)
c.81T>A
c.67T>A
c.-62T>A (n.-62T>A)
c.73T>A
c.38T>A (p.Leu13Ter)
c.31T>A
2g.32064028T>CCA346601652SPASTc.197T>C (p.Leu66Ser)
c.81T>C
c.67T>C
c.-62T>C (n.-62T>C)
c.73T>C
c.38T>C (p.Leu13Ser)
c.31T>C
2g.32064028T>GCA346601654SPASTc.197T>G (p.Leu66Trp)
c.81T>G
c.67T>G
c.-62T>G (n.-62T>G)
c.73T>G
c.38T>G (p.Leu13Trp)
c.31T>G
2g.32064029G>ACA425627541SPASTc.198G>A (p.Leu66=)
c.82G>A
c.68G>A
c.-61G>A (n.-61G>A)
c.74G>A
c.39G>A (p.Leu13=)
c.32G>A
2g.32064029G>CCA346601656SPASTc.198G>C (p.Leu66Phe)
c.82G>C
c.68G>C
c.-61G>C (n.-61G>C)
c.74G>C
c.39G>C (p.Leu13Phe)
c.32G>C
 ClinVar dbSNP gnomAD v4
2g.32064029G>TCA346601657SPASTc.198G>T (p.Leu66Phe)
c.82G>T
c.68G>T
c.-61G>T (n.-61G>T)
c.74G>T
c.39G>T (p.Leu13Phe)
c.32G>T
2g.32064030G>ACA346601659SPASTc.199G>A (p.Val67Ile)
c.83G>A
c.69G>A
c.-60G>A (n.-60G>A)
c.75G>A
c.40G>A (p.Val14Ile)
c.33G>A
 gnomAD v4
2g.32064030G>CCA346601661SPASTc.199G>C (p.Val67Leu)
c.83G>C
c.69G>C
c.-60G>C (n.-60G>C)
c.75G>C
c.40G>C (p.Val14Leu)
c.33G>C
2g.32064030G>TCA346601662SPASTc.199G>T (p.Val67Phe)
c.83G>T
c.69G>T
c.-60G>T (n.-60G>T)
c.75G>T
c.40G>T (p.Val14Phe)
c.33G>T
2g.32064030_32064033delinsATCCCA891842788SPASTc.199_202delinsATCC (p.Val67_Ala68delinsIlePro)
c.83_86delinsATCC
c.69_72delinsATCC
c.-60_-57delinsATCC (n.-60_-57delinsATCC)
c.75_78delinsATCC
c.40_43delinsATCC (p.Val14_Ala15delinsIlePro)
c.33_36delinsATCC
 ClinVar dbSNP
2g.32064030_32064033delinsGTCGCA1242461698SPASTc.199_202delinsGTCG (p.Val67=)
c.83_86delinsGTCG
c.69_72delinsGTCG
c.-60_-57delinsGTCG (n.-60_-57delinsGTCG)
c.75_78delinsGTCG
c.40_43delinsGTCG (p.Val14=)
c.33_36delinsGTCG
2g.32064031T>ACA346601664SPASTc.200T>A (p.Val67Asp)
c.84T>A
c.70T>A
c.-59T>A (n.-59T>A)
c.76T>A
c.41T>A (p.Val14Asp)
c.34T>A
2g.32064031T>CCA346601666SPASTc.200T>C (p.Val67Ala)
c.84T>C
c.70T>C
c.-59T>C (n.-59T>C)
c.76T>C
c.41T>C (p.Val14Ala)
c.34T>C
2g.32064031T>GCA346601667SPASTc.200T>G (p.Val67Gly)
c.84T>G
c.70T>G
c.-59T>G (n.-59T>G)
c.76T>G
c.41T>G (p.Val14Gly)
c.34T>G
2g.32064032C>ACA425627561SPASTc.201C>A (p.Val67=)
c.85C>A
c.71C>A
c.-58C>A (n.-58C>A)
c.77C>A
c.42C>A (p.Val14=)
c.35C>A
 gnomAD v4 COSMIC
2g.32064032C=CA1242461699SPASTc.201C= (p.Val67=)
c.85C=
c.71C=
c.-58C= (n.-58C=)
c.77C=
c.42C= (p.Val14=)
c.35C=
2g.32064032C>GCA425627564SPASTc.201C>G (p.Val67=)
c.85C>G
c.71C>G
c.-58C>G (n.-58C>G)
c.77C>G
c.42C>G (p.Val14=)
c.35C>G
2g.32064032C>TCA1600517SPASTc.201C>T (p.Val67=)
c.85C>T
c.71C>T
c.-58C>T (n.-58C>T)
c.77C>T
c.42C>T (p.Val14=)
c.35C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064033G>ACA346601676SPASTc.202G>A (p.Ala68Thr)
c.86G>A
c.72G>A
c.-57G>A (n.-57G>A)
c.78G>A
c.43G>A (p.Ala15Thr)
c.36G>A
2g.32064033G>CCA346601679SPASTc.202G>C (p.Ala68Pro)
c.86G>C
c.72G>C
c.-57G>C (n.-57G>C)
c.78G>C
c.43G>C (p.Ala15Pro)
c.36G>C
 dbSNP
2g.32064033G=CA1242461700SPASTc.202G= (p.Ala68=)
c.86G=
c.72G=
c.-57G= (n.-57G=)
c.78G=
c.43G= (p.Ala15=)
c.36G=
2g.32064033G>TCA346601677SPASTc.202G>T (p.Ala68Ser)
c.86G>T
c.72G>T
c.-57G>T (n.-57G>T)
c.78G>T
c.43G>T (p.Ala15Ser)
c.36G>T
2g.32064034C>ACA346601682SPASTc.203C>A (p.Ala68Asp)
c.87C>A
c.73C>A
c.-56C>A (n.-56C>A)
c.79C>A
c.44C>A (p.Ala15Asp)
c.37C>A
2g.32064034C>GCA346601685SPASTc.203C>G (p.Ala68Gly)
c.87C>G
c.73C>G
c.-56C>G (n.-56C>G)
c.79C>G
c.44C>G (p.Ala15Gly)
c.37C>G
2g.32064034C>TCA346601683SPASTc.203C>T (p.Ala68Val)
c.87C>T
c.73C>T
c.-56C>T (n.-56C>T)
c.79C>T
c.44C>T (p.Ala15Val)
c.37C>T
2g.32064035C>ACA425627574SPASTc.204C>A (p.Ala68=)
c.88C>A
c.74C>A
c.-55C>A (n.-55C>A)
c.80C>A
c.45C>A (p.Ala15=)
c.38C>A
2g.32064035C=CA1242461701SPASTc.204C= (p.Ala68=)
c.88C=
c.74C=
c.-55C= (n.-55C=)
c.80C=
c.45C= (p.Ala15=)
c.38C=
2g.32064035C>GCA425627575SPASTc.204C>G (p.Ala68=)
c.88C>G
c.74C>G
c.-55C>G (n.-55C>G)
c.80C>G
c.45C>G (p.Ala15=)
c.38C>G
 gnomAD v4
2g.32064035C>TCA1600518SPASTc.204C>T (p.Ala68=)
c.88C>T
c.74C>T
c.-55C>T (n.-55C>T)
c.80C>T
c.45C>T (p.Ala15=)
c.38C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064036T>ACA346601687SPASTc.205T>A (p.Phe69Ile)
c.89T>A
c.75T>A
c.-54T>A (n.-54T>A)
c.81T>A
c.46T>A (p.Phe16Ile)
c.39T>A
2g.32064036T>CCA346601688SPASTc.205T>C (p.Phe69Leu)
c.89T>C
c.75T>C
c.-54T>C (n.-54T>C)
c.81T>C
c.46T>C (p.Phe16Leu)
c.39T>C
 gnomAD v4
2g.32064036T>GCA346601689SPASTc.205T>G (p.Phe69Val)
c.89T>G
c.75T>G
c.-54T>G (n.-54T>G)
c.81T>G
c.46T>G (p.Phe16Val)
c.39T>G
2g.32064037T>ACA346601690SPASTc.206T>A (p.Phe69Tyr)
c.90T>A
c.76T>A
c.-53T>A (n.-53T>A)
c.82T>A
c.47T>A (p.Phe16Tyr)
c.40T>A
2g.32064037T>CCA346601691SPASTc.206T>C (p.Phe69Ser)
c.90T>C
c.76T>C
c.-53T>C (n.-53T>C)
c.82T>C
c.47T>C (p.Phe16Ser)
c.40T>C
 dbSNP gnomAD v3 gnomAD v4
2g.32064037T>GCA346601692SPASTc.206T>G (p.Phe69Cys)
c.90T>G
c.76T>G
c.-53T>G (n.-53T>G)
c.82T>G
c.47T>G (p.Phe16Cys)
c.40T>G
2g.32064037T=CA1242461702SPASTc.206T= (p.Phe69=)
c.90T=
c.76T=
c.-53T= (n.-53T=)
c.82T=
c.47T= (p.Phe16=)
c.40T=
2g.32064038C>ACA346601694SPASTc.207C>A (p.Phe69Leu)
c.91C>A
c.77C>A
c.-52C>A (n.-52C>A)
c.83C>A
c.48C>A (p.Phe16Leu)
c.41C>A
2g.32064038C=CA1242461703SPASTc.207C= (p.Phe69=)
c.91C=
c.77C=
c.-52C= (n.-52C=)
c.83C=
c.48C= (p.Phe16=)
c.41C=
2g.32064038C>GCA346601695SPASTc.207C>G (p.Phe69Leu)
c.91C>G
c.77C>G
c.-52C>G (n.-52C>G)
c.83C>G
c.48C>G (p.Phe16Leu)
c.41C>G
2g.32064038C>TCA425627597SPASTc.207C>T (p.Phe69=)
c.91C>T
c.77C>T
c.-52C>T (n.-52C>T)
c.83C>T
c.48C>T (p.Phe16=)
c.41C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064038_32064053dupCA2739274304SPASTc.207_222dup (p.Phe75ProfsTer?)
c.91_106dup
c.77_92dup
c.-52_-37dup (n.-52_-37dup)
c.83_98dup
c.48_63dup (p.Phe22ProfsTer?)
c.41_56dup
 ClinVar
2g.32064039C>ACA346601697SPASTc.208C>A (p.His70Asn)
c.92C>A
c.78C>A
c.-51C>A (n.-51C>A)
c.84C>A
c.49C>A (p.His17Asn)
c.42C>A
 ClinVar
2g.32064039C=CA1242461704SPASTc.208C= (p.His70=)
c.92C=
c.78C=
c.-51C= (n.-51C=)
c.84C=
c.49C= (p.His17=)
c.42C=
2g.32064039C>GCA346601704SPASTc.208C>G (p.His70Asp)
c.92C>G
c.78C>G
c.-51C>G (n.-51C>G)
c.84C>G
c.49C>G (p.His17Asp)
c.42C>G
2g.32064039C>TCA346601706SPASTc.208C>T (p.His70Tyr)
c.92C>T
c.78C>T
c.-51C>T (n.-51C>T)
c.84C>T
c.49C>T (p.His17Tyr)
c.42C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064040A=CA1242461705SPASTc.209A= (p.His70=)
c.93A=
c.79A=
c.-50A= (n.-50A=)
c.85A=
c.50A= (p.His17=)
c.43A=
2g.32064040A>CCA346601710SPASTc.209A>C (p.His70Pro)
c.93A>C
c.79A>C
c.-50A>C (n.-50A>C)
c.85A>C
c.50A>C (p.His17Pro)
c.43A>C
2g.32064040A>GCA346601708SPASTc.209A>G (p.His70Arg)
c.93A>G
c.79A>G
c.-50A>G (n.-50A>G)
c.85A>G
c.50A>G (p.His17Arg)
c.43A>G
2g.32064040A>TCA45201395SPASTc.209A>T (p.His70Leu)
c.93A>T
c.79A>T
c.-50A>T (n.-50A>T)
c.85A>T
c.50A>T (p.His17Leu)
c.43A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064041C>ACA346601713SPASTc.210C>A (p.His70Gln)
c.94C>A
c.80C>A
c.-49C>A (n.-49C>A)
c.86C>A
c.51C>A (p.His17Gln)
c.44C>A
2g.32064041C=CA1242461706SPASTc.210C= (p.His70=)
c.94C=
c.80C=
c.-49C= (n.-49C=)
c.86C=
c.51C= (p.His17=)
c.44C=
2g.32064041C>GCA1600519SPASTc.210C>G (p.His70Gln)
c.94C>G
c.80C>G
c.-49C>G (n.-49C>G)
c.86C>G
c.51C>G (p.His17Gln)
c.44C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064041C>TCA425627611SPASTc.210C>T (p.His70=)
c.94C>T
c.80C>T
c.-49C>T (n.-49C>T)
c.86C>T
c.51C>T (p.His17=)
c.44C>T
 dbSNP gnomAD v4
2g.32064042C>ACA346601715SPASTc.211C>A (p.Leu71Met)
c.95C>A
c.81C>A
c.-48C>A (n.-48C>A)
c.87C>A
c.52C>A (p.Leu18Met)
c.45C>A
 dbSNP
2g.32064042C>GCA346601717SPASTc.211C>G (p.Leu71Val)
c.95C>G
c.81C>G
c.-48C>G (n.-48C>G)
c.87C>G
c.52C>G (p.Leu18Val)
c.45C>G
2g.32064042C>TCA425627614SPASTc.211C>T (p.Leu71=)
c.95C>T
c.81C>T
c.-48C>T (n.-48C>T)
c.87C>T
c.52C>T (p.Leu18=)
c.45C>T
 ClinVar dbSNP gnomAD v4
2g.32064043delCA2573134598SPASTc.212del (p.Leu71ArgfsTer?)
c.96del
c.82del
c.-47del (n.-47del)
c.88del
c.53del (p.Leu18ArgfsTer?)
c.46del
 ClinVar dbSNP
2g.32064043T>ACA346601719SPASTc.212T>A (p.Leu71Gln)
c.96T>A
c.82T>A
c.-47T>A (n.-47T>A)
c.88T>A
c.53T>A (p.Leu18Gln)
c.46T>A
2g.32064043T>CCA346601721SPASTc.212T>C (p.Leu71Pro)
c.96T>C
c.82T>C
c.-47T>C (n.-47T>C)
c.88T>C
c.53T>C (p.Leu18Pro)
c.46T>C
2g.32064043T>GCA346601722SPASTc.212T>G (p.Leu71Arg)
c.96T>G
c.82T>G
c.-47T>G (n.-47T>G)
c.88T>G
c.53T>G (p.Leu18Arg)
c.46T>G
 gnomAD v4
2g.32064044G>ACA425627627SPASTc.213G>A (p.Leu71=)
c.97G>A
c.83G>A
c.-46G>A (n.-46G>A)
c.89G>A
c.54G>A (p.Leu18=)
c.47G>A
2g.32064044G>CCA425627622SPASTc.213G>C (p.Leu71=)
c.97G>C
c.83G>C
c.-46G>C (n.-46G>C)
c.89G>C
c.54G>C (p.Leu18=)
c.47G>C
2g.32064044G>TCA425627625SPASTc.213G>T (p.Leu71=)
c.97G>T
c.83G>T
c.-46G>T (n.-46G>T)
c.89G>T
c.54G>T (p.Leu18=)
c.47G>T
2g.32064045G>ACA346601724SPASTc.214G>A (p.Gly72Arg)
c.98G>A
c.84G>A
c.-45G>A (n.-45G>A)
c.90G>A
c.55G>A (p.Gly19Arg)
c.48G>A
 gnomAD v4
2g.32064045G>CCA346601725SPASTc.214G>C (p.Gly72Arg)
c.98G>C
c.84G>C
c.-45G>C (n.-45G>C)
c.90G>C
c.55G>C (p.Gly19Arg)
c.48G>C
2g.32064045G=CA1242461707SPASTc.214G= (p.Gly72=)
c.98G=
c.84G=
c.-45G= (n.-45G=)
c.90G=
c.55G= (p.Gly19=)
c.48G=
2g.32064045G>TCA346601728SPASTc.214G>T (p.Gly72Trp)
c.98G>T
c.84G>T
c.-45G>T (n.-45G>T)
c.90G>T
c.55G>T (p.Gly19Trp)
c.48G>T
 dbSNP gnomAD v3 gnomAD v4
2g.32064046G>ACA346601729SPASTc.215G>A (p.Gly72Glu)
c.99G>A
c.85G>A
c.-44G>A (n.-44G>A)
c.91G>A
c.56G>A (p.Gly19Glu)
c.49G>A
 gnomAD v4
2g.32064046G>CCA346601731SPASTc.215G>C (p.Gly72Ala)
c.99G>C
c.85G>C
c.-44G>C (n.-44G>C)
c.91G>C
c.56G>C (p.Gly19Ala)
c.49G>C
2g.32064046G>TCA346601732SPASTc.215G>T (p.Gly72Val)
c.99G>T
c.85G>T
c.-44G>T (n.-44G>T)
c.91G>T
c.56G>T (p.Gly19Val)
c.49G>T
2g.32064047G>ACA425627634SPASTc.216G>A (p.Gly72=)
c.100G>A
c.86G>A
c.-43G>A (n.-43G>A)
c.92G>A
c.57G>A (p.Gly19=)
c.50G>A
2g.32064047G>CCA425627637SPASTc.216G>C (p.Gly72=)
c.100G>C
c.86G>C
c.-43G>C (n.-43G>C)
c.92G>C
c.57G>C (p.Gly19=)
c.50G>C
2g.32064047G=CA1242461708SPASTc.216G= (p.Gly72=)
c.100G=
c.86G=
c.-43G= (n.-43G=)
c.92G=
c.57G= (p.Gly19=)
c.50G=
2g.32064047G>TCA425627640SPASTc.216G>T (p.Gly72=)
c.100G>T
c.86G>T
c.-43G>T (n.-43G>T)
c.92G>T
c.57G>T (p.Gly19=)
c.50G>T
 dbSNP gnomAD v4
2g.32064048delCA2658519898SPASTc.217del (p.Leu73SerfsTer?)
c.101del
c.87del
c.-42del (n.-42del)
c.93del
c.58del (p.Leu20SerfsTer?)
c.51del
 ClinVar gnomAD v4
2g.32064048C>ACA346601734SPASTc.217C>A (p.Leu73Ile)
c.101C>A
c.87C>A
c.-42C>A (n.-42C>A)
c.93C>A
c.58C>A (p.Leu20Ile)
c.51C>A
2g.32064048C=CA1242461709SPASTc.217C= (p.Leu73=)
c.101C=
c.87C=
c.-42C= (n.-42C=)
c.93C=
c.58C= (p.Leu20=)
c.51C=
2g.32064048C>GCA346601736SPASTc.217C>G (p.Leu73Val)
c.101C>G
c.87C>G
c.-42C>G (n.-42C>G)
c.93C>G
c.58C>G (p.Leu20Val)
c.51C>G
2g.32064048C>TCA1600520SPASTc.217C>T (p.Leu73Phe)
c.101C>T
c.87C>T
c.-42C>T (n.-42C>T)
c.93C>T
c.58C>T (p.Leu20Phe)
c.51C>T
 dbSNP ExAC gnomAD v2
2g.32064049T>ACA346601738SPASTc.218T>A (p.Leu73His)
c.102T>A
c.88T>A
c.-41T>A (n.-41T>A)
c.94T>A
c.59T>A (p.Leu20His)
c.52T>A
2g.32064049T>CCA346601739SPASTc.218T>C (p.Leu73Pro)
c.102T>C
c.88T>C
c.-41T>C (n.-41T>C)
c.94T>C
c.59T>C (p.Leu20Pro)
c.52T>C
2g.32064049T>GCA346601742SPASTc.218T>G (p.Leu73Arg)
c.102T>G
c.88T>G
c.-41T>G (n.-41T>G)
c.94T>G
c.59T>G (p.Leu20Arg)
c.52T>G
2g.32064050C>ACA1600522SPASTc.219C>A (p.Leu73=)
c.103C>A
c.89C>A
c.-40C>A (n.-40C>A)
c.95C>A
c.60C>A (p.Leu20=)
c.53C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064050C=CA1242461710SPASTc.219C= (p.Leu73=)
c.103C=
c.89C=
c.-40C= (n.-40C=)
c.95C=
c.60C= (p.Leu20=)
c.53C=
2g.32064050C>GCA425627654SPASTc.219C>G (p.Leu73=)
c.103C>G
c.89C>G
c.-40C>G (n.-40C>G)
c.95C>G
c.60C>G (p.Leu20=)
c.53C>G
2g.32064050C>TCA1600521SPASTc.219C>T (p.Leu73=)
c.103C>T
c.89C>T
c.-40C>T (n.-40C>T)
c.95C>T
c.60C>T (p.Leu20=)
c.53C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064050_32064051delCA2749388909SPASTc.219_220del (p.Phe75ArgfsTer?)
c.103_104del
c.89_90del
c.-40_-39del (n.-40_-39del)
c.95_96del
c.60_61del (p.Phe22ArgfsTer?)
c.53_54del
2g.32064051C>ACA346601748SPASTc.220C>A (p.Leu74Ile)
c.104C>A
c.90C>A
c.-39C>A (n.-39C>A)
c.96C>A
c.61C>A (p.Leu21Ile)
c.54C>A
2g.32064051C=CA1242461711SPASTc.220C= (p.Leu74=)
c.104C=
c.90C=
c.-39C= (n.-39C=)
c.96C=
c.61C= (p.Leu21=)
c.54C=
2g.32064051C>GCA346601751SPASTc.220C>G (p.Leu74Val)
c.104C>G
c.90C>G
c.-39C>G (n.-39C>G)
c.96C>G
c.61C>G (p.Leu21Val)
c.54C>G
2g.32064051C>TCA1600523SPASTc.220C>T (p.Leu74Phe)
c.104C>T
c.90C>T
c.-39C>T (n.-39C>T)
c.96C>T
c.61C>T (p.Leu21Phe)
c.54C>T
 dbSNP ExAC gnomAD v2
2g.32064052T>ACA346601757SPASTc.221T>A (p.Leu74His)
c.105T>A
c.91T>A
c.-38T>A (n.-38T>A)
c.97T>A
c.62T>A (p.Leu21His)
c.55T>A
2g.32064052T>CCA346601759SPASTc.221T>C (p.Leu74Pro)
c.105T>C
c.91T>C
c.-38T>C (n.-38T>C)
c.97T>C
c.62T>C (p.Leu21Pro)
c.55T>C
2g.32064052T>GCA346601762SPASTc.221T>G (p.Leu74Arg)
c.105T>G
c.91T>G
c.-38T>G (n.-38T>G)
c.97T>G
c.62T>G (p.Leu21Arg)
c.55T>G
2g.32064053C>ACA425627665SPASTc.222C>A (p.Leu74=)
c.106C>A
c.92C>A
c.-37C>A (n.-37C>A)
c.98C>A
c.63C>A (p.Leu21=)
c.56C>A
2g.32064053C=CA1242461712SPASTc.222C= (p.Leu74=)
c.106C=
c.92C=
c.-37C= (n.-37C=)
c.98C=
c.63C= (p.Leu21=)
c.56C=
2g.32064053C>GCA425627666SPASTc.222C>G (p.Leu74=)
c.106C>G
c.92C>G
c.-37C>G (n.-37C>G)
c.98C>G
c.63C>G (p.Leu21=)
c.56C>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064053C>TCA1600524SPASTc.222C>T (p.Leu74=)
c.106C>T
c.92C>T
c.-37C>T (n.-37C>T)
c.98C>T
c.63C>T (p.Leu21=)
c.56C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064054T>ACA346601773SPASTc.223T>A (p.Phe75Ile)
c.107T>A
c.93T>A
c.-36T>A (n.-36T>A)
c.99T>A
c.64T>A (p.Phe22Ile)
c.57T>A
2g.32064054T>CCA346601767SPASTc.223T>C (p.Phe75Leu)
c.107T>C
c.93T>C
c.-36T>C (n.-36T>C)
c.99T>C
c.64T>C (p.Phe22Leu)
c.57T>C
 gnomAD v4
2g.32064054T>GCA346601770SPASTc.223T>G (p.Phe75Val)
c.107T>G
c.93T>G
c.-36T>G (n.-36T>G)
c.99T>G
c.64T>G (p.Phe22Val)
c.57T>G
2g.32064055T>ACA346601775SPASTc.224T>A (p.Phe75Tyr)
c.108T>A
c.94T>A
c.-35T>A (n.-35T>A)
c.100T>A
c.65T>A (p.Phe22Tyr)
c.58T>A
2g.32064055T>CCA346601777SPASTc.224T>C (p.Phe75Ser)
c.108T>C
c.94T>C
c.-35T>C (n.-35T>C)
c.100T>C
c.65T>C (p.Phe22Ser)
c.58T>C
2g.32064055T>GCA346601780SPASTc.224T>G (p.Phe75Cys)
c.108T>G
c.94T>G
c.-35T>G (n.-35T>G)
c.100T>G
c.65T>G (p.Phe22Cys)
c.58T>G
2g.32064056C>ACA45201396SPASTc.225C>A (p.Phe75Leu)
c.109C>A
c.95C>A
c.-34C>A (n.-34C>A)
c.101C>A
c.66C>A (p.Phe22Leu)
c.59C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064056C=CA1242461713SPASTc.225C= (p.Phe75=)
c.109C=
c.95C=
c.-34C= (n.-34C=)
c.101C=
c.66C= (p.Phe22=)
c.59C=
2g.32064056C>GCA346601783SPASTc.225C>G (p.Phe75Leu)
c.109C>G
c.95C>G
c.-34C>G (n.-34C>G)
c.101C>G
c.66C>G (p.Phe22Leu)
c.59C>G
 dbSNP gnomAD v4
2g.32064056C>TCA425627678SPASTc.225C>T (p.Phe75=)
c.109C>T
c.95C>T
c.-34C>T (n.-34C>T)
c.101C>T
c.66C>T (p.Phe22=)
c.59C>T
 COSMIC
2g.32064056_32064057insCACCA2580066383SPASTc.225_226insCAC (p.Phe75_Val76insHis)
c.109_110insCAC
c.95_96insCAC
c.-34_-33insCAC (n.-34_-33insCAC)
c.101_102insCAC
c.66_67insCAC (p.Phe22_Val23insHis)
c.59_60insCAC
 ClinVar
2g.32064057G>ACA346601786SPASTc.226G>A (p.Val76Met)
c.110G>A
c.96G>A
c.-33G>A (n.-33G>A)
c.102G>A
c.67G>A (p.Val23Met)
c.60G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32064057G>CCA346601793SPASTc.226G>C (p.Val76Leu)
c.110G>C
c.96G>C
c.-33G>C (n.-33G>C)
c.102G>C
c.67G>C (p.Val23Leu)
c.60G>C
2g.32064057G=CA1242461714SPASTc.226G= (p.Val76=)
c.110G=
c.96G=
c.-33G= (n.-33G=)
c.102G=
c.67G= (p.Val23=)
c.60G=
2g.32064057G>TCA1600525SPASTc.226G>T (p.Val76Leu)
c.110G>T
c.96G>T
c.-33G>T (n.-33G>T)
c.102G>T
c.67G>T (p.Val23Leu)
c.60G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064058T>ACA346601797SPASTc.227T>A (p.Val76Glu)
c.111T>A
c.97T>A
c.-32T>A (n.-32T>A)
c.103T>A
c.68T>A (p.Val23Glu)
c.61T>A
2g.32064058T>CCA346601799SPASTc.227T>C (p.Val76Ala)
c.111T>C
c.97T>C
c.-32T>C (n.-32T>C)
c.103T>C
c.68T>C (p.Val23Ala)
c.61T>C
2g.32064058T>GCA346601801SPASTc.227T>G (p.Val76Gly)
c.111T>G
c.97T>G
c.-32T>G (n.-32T>G)
c.103T>G
c.68T>G (p.Val23Gly)
c.61T>G
2g.32064059G>ACA425627689SPASTc.228G>A (p.Val76=)
c.112G>A
c.98G>A
c.-31G>A (n.-31G>A)
c.104G>A
c.69G>A (p.Val23=)
c.62G>A
2g.32064059G>CCA425627691SPASTc.228G>C (p.Val76=)
c.112G>C
c.98G>C
c.-31G>C (n.-31G>C)
c.104G>C
c.69G>C (p.Val23=)
c.62G>C
2g.32064059G>TCA425627694SPASTc.228G>T (p.Val76=)
c.112G>T
c.98G>T
c.-31G>T (n.-31G>T)
c.104G>T
c.69G>T (p.Val23=)
c.62G>T
2g.32064060T>ACA346601805SPASTc.229T>A (p.Trp77Arg)
c.113T>A
c.99T>A
c.-30T>A (n.-30T>A)
c.105T>A
c.70T>A (p.Trp24Arg)
c.63T>A
2g.32064060T>CCA346601806SPASTc.229T>C (p.Trp77Arg)
c.113T>C
c.99T>C
c.-30T>C (n.-30T>C)
c.105T>C
c.70T>C (p.Trp24Arg)
c.63T>C
 dbSNP gnomAD v4
2g.32064060T>GCA346601803SPASTc.229T>G (p.Trp77Gly)
c.113T>G
c.99T>G
c.-30T>G (n.-30T>G)
c.105T>G
c.70T>G (p.Trp24Gly)
c.63T>G
2g.32064060T=CA1242461715SPASTc.229T= (p.Trp77=)
c.113T=
c.99T=
c.-30T= (n.-30T=)
c.105T=
c.70T= (p.Trp24=)
c.63T=
2g.32064061G>ACA346601813SPASTc.230G>A (p.Trp77Ter)
c.114G>A
c.100G>A
c.-29G>A (n.-29G>A)
c.106G>A
c.71G>A (p.Trp24Ter)
c.64G>A
 dbSNP gnomAD v4
2g.32064061G>CCA346601808SPASTc.230G>C (p.Trp77Ser)
c.114G>C
c.100G>C
c.-29G>C (n.-29G>C)
c.106G>C
c.71G>C (p.Trp24Ser)
c.64G>C
 gnomAD v4
2g.32064061G=CA1242461716SPASTc.230G= (p.Trp77=)
c.114G=
c.100G=
c.-29G= (n.-29G=)
c.106G=
c.71G= (p.Trp24=)
c.64G=
2g.32064061G>TCA346601811SPASTc.230G>T (p.Trp77Leu)
c.114G>T
c.100G>T
c.-29G>T (n.-29G>T)
c.106G>T
c.71G>T (p.Trp24Leu)
c.64G>T
2g.32064062G>ACA346601815SPASTc.231G>A (p.Trp77Ter)
c.115G>A
c.101G>A
c.-28G>A (n.-28G>A)
c.107G>A
c.72G>A (p.Trp24Ter)
c.65G>A
2g.32064062G>CCA1600526SPASTc.231G>C (p.Trp77Cys)
c.115G>C
c.101G>C
c.-28G>C (n.-28G>C)
c.107G>C
c.72G>C (p.Trp24Cys)
c.65G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064062G=CA1242461717SPASTc.231G= (p.Trp77=)
c.115G=
c.101G=
c.-28G= (n.-28G=)
c.107G=
c.72G= (p.Trp24=)
c.65G=
2g.32064062G>TCA346601819SPASTc.231G>T (p.Trp77Cys)
c.115G>T
c.101G>T
c.-28G>T (n.-28G>T)
c.107G>T
c.72G>T (p.Trp24Cys)
c.65G>T
2g.32064063C>ACA346601822SPASTc.232C>A (p.Leu78Ile)
c.116C>A
c.102C>A
c.-27C>A (n.-27C>A)
c.108C>A
c.73C>A (p.Leu25Ile)
c.66C>A
2g.32064063C=CA1242461718SPASTc.232C= (p.Leu78=)
c.116C=
c.102C=
c.-27C= (n.-27C=)
c.108C=
c.73C= (p.Leu25=)
c.66C=
2g.32064063C>GCA346601824SPASTc.232C>G (p.Leu78Val)
c.116C>G
c.102C>G
c.-27C>G (n.-27C>G)
c.108C>G
c.73C>G (p.Leu25Val)
c.66C>G
 ClinVar dbSNP
2g.32064063C>TCA346601826SPASTc.232C>T (p.Leu78Phe)
c.116C>T
c.102C>T
c.-27C>T (n.-27C>T)
c.108C>T
c.73C>T (p.Leu25Phe)
c.66C>T
 gnomAD v4
2g.32064064T>ACA346601829SPASTc.233T>A (p.Leu78His)
c.117T>A
c.103T>A
c.-26T>A (n.-26T>A)
c.109T>A
c.74T>A (p.Leu25His)
c.67T>A
2g.32064064T>CCA346601830SPASTc.233T>C (p.Leu78Pro)
c.117T>C
c.103T>C
c.-26T>C (n.-26T>C)
c.109T>C
c.74T>C (p.Leu25Pro)
c.67T>C
2g.32064064T>GCA346601833SPASTc.233T>G (p.Leu78Arg)
c.117T>G
c.103T>G
c.-26T>G (n.-26T>G)
c.109T>G
c.74T>G (p.Leu25Arg)
c.67T>G
2g.32064065C>ACA425627717SPASTc.234C>A (p.Leu78=)
c.118C>A
c.104C>A
c.-25C>A (n.-25C>A)
c.110C>A
c.75C>A (p.Leu25=)
c.68C>A
 ClinVar
2g.32064065C=CA1242461719SPASTc.234C= (p.Leu78=)
c.118C=
c.104C=
c.-25C= (n.-25C=)
c.110C=
c.75C= (p.Leu25=)
c.68C=
2g.32064065C>GCA425627718SPASTc.234C>G (p.Leu78=)
c.118C>G
c.104C>G
c.-25C>G (n.-25C>G)
c.110C>G
c.75C>G (p.Leu25=)
c.68C>G
 ClinVar dbSNP gnomAD v4
2g.32064065C>TCA425627720SPASTc.234C>T (p.Leu78=)
c.118C>T
c.104C>T
c.-25C>T (n.-25C>T)
c.110C>T
c.75C>T (p.Leu25=)
c.68C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064066T>ACA346601838SPASTc.235T>A (p.Cys79Ser)
c.119T>A
c.105T>A
c.-24T>A (n.-24T>A)
c.111T>A
c.76T>A (p.Cys26Ser)
c.69T>A
2g.32064066T>CCA346601837SPASTc.235T>C (p.Cys79Arg)
c.119T>C
c.105T>C
c.-24T>C (n.-24T>C)
c.111T>C
c.76T>C (p.Cys26Arg)
c.69T>C
2g.32064066T>GCA346601836SPASTc.235T>G (p.Cys79Gly)
c.119T>G
c.105T>G
c.-24T>G (n.-24T>G)
c.111T>G
c.76T>G (p.Cys26Gly)
c.69T>G

Number of alleles fetched