Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32063148_32067182delCA339677 ClinVar
2g.32063720_32066025delCA325517SPASTc.-112_446del
c.-112_415+1779del
 ClinVar
2g.32064127_32064444delCA2573134600SPASTc.296_415+198del
c.180_299+198del
c.166_285+198del
c.38_157+198del
c.172_291+198del
c.137_256+198del
c.130_249+198del
 ClinVar dbSNP
2g.32064221_32064225delCA916504285SPASTc.390_394del (p.Leu131HisfsTer3)
c.274_278del
c.260_264del
c.132_136del (p.Leu45HisfsTer3)
c.266_270del
c.231_235del (p.Leu78HisfsTer3)
c.11_15del
c.224_228del
 dbSNP
2g.32064224G>ACA425627304SPASTc.393G>A (p.Leu131=)
c.277G>A
c.263G>A
c.135G>A (p.Leu45=)
c.269G>A
c.234G>A (p.Leu78=)
c.14G>A
c.227G>A
 gnomAD v4
2g.32064224G>CCA425627305SPASTc.393G>C (p.Leu131=)
c.277G>C
c.263G>C
c.135G>C (p.Leu45=)
c.269G>C
c.234G>C (p.Leu78=)
c.14G>C
c.227G>C
2g.32064224G>TCA425627306SPASTc.393G>T (p.Leu131=)
c.277G>T
c.263G>T
c.135G>T (p.Leu45=)
c.269G>T
c.234G>T (p.Leu78=)
c.14G>T
c.227G>T
 gnomAD v4
2g.32064225C>ACA346602469SPASTc.394C>A (p.Arg132Ser)
c.278C>A
c.264C>A
c.136C>A (p.Arg46Ser)
c.270C>A
c.235C>A (p.Arg79Ser)
c.15C>A
c.228C>A
 gnomAD v4
2g.32064225C>GCA346602471SPASTc.394C>G (p.Arg132Gly)
c.278C>G
c.264C>G
c.136C>G (p.Arg46Gly)
c.270C>G
c.235C>G (p.Arg79Gly)
c.15C>G
c.228C>G
2g.32064225C>TCA346602470SPASTc.394C>T (p.Arg132Cys)
c.278C>T
c.264C>T
c.136C>T (p.Arg46Cys)
c.270C>T
c.235C>T (p.Arg79Cys)
c.15C>T
c.228C>T
 gnomAD v4
2g.32064226G>ACA346602472SPASTc.395G>A (p.Arg132His)
c.279G>A
c.265G>A
c.137G>A (p.Arg46His)
c.271G>A
c.236G>A (p.Arg79His)
c.16G>A
c.229G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064226G>CCA346602473SPASTc.395G>C (p.Arg132Pro)
c.279G>C
c.265G>C
c.137G>C (p.Arg46Pro)
c.271G>C
c.236G>C (p.Arg79Pro)
c.16G>C
c.229G>C
2g.32064226G=CA1242461822SPASTc.395G= (p.Arg132=)
c.279G=
c.265G=
c.137G= (p.Arg46=)
c.271G=
c.236G= (p.Arg79=)
c.16G=
c.229G=
2g.32064226G>TCA346602474SPASTc.395G>T (p.Arg132Leu)
c.279G>T
c.265G>T
c.137G>T (p.Arg46Leu)
c.271G>T
c.236G>T (p.Arg79Leu)
c.16G>T
c.229G>T
 gnomAD v4
2g.32064227C>ACA425627336SPASTc.396C>A (p.Arg132=)
c.280C>A
c.266C>A
c.138C>A (p.Arg46=)
c.272C>A
c.237C>A (p.Arg79=)
c.17C>A
c.230C>A
 gnomAD v4
2g.32064227C>GCA425627343SPASTc.396C>G (p.Arg132=)
c.280C>G
c.266C>G
c.138C>G (p.Arg46=)
c.272C>G
c.237C>G (p.Arg79=)
c.17C>G
c.230C>G
2g.32064227C>TCA425627341SPASTc.396C>T (p.Arg132=)
c.280C>T
c.266C>T
c.138C>T (p.Arg46=)
c.272C>T
c.237C>T (p.Arg79=)
c.17C>T
c.230C>T
 gnomAD v4
2g.32064228A=CA1242461823SPASTc.397A= (p.Ile133=)
c.281A=
c.267A=
c.139A= (p.Ile47=)
c.273A=
c.238A= (p.Ile80=)
c.18A=
c.231A=
2g.32064228A>CCA346602475SPASTc.397A>C (p.Ile133Leu)
c.281A>C
c.267A>C
c.139A>C (p.Ile47Leu)
c.273A>C
c.238A>C (p.Ile80Leu)
c.18A>C
c.231A>C
2g.32064228A>GCA346602476SPASTc.397A>G (p.Ile133Val)
c.281A>G
c.267A>G
c.139A>G (p.Ile47Val)
c.273A>G
c.238A>G (p.Ile80Val)
c.18A>G
c.231A>G
 ClinVar dbSNP gnomAD v4
2g.32064228A>TCA346602477SPASTc.397A>T (p.Ile133Phe)
c.281A>T
c.267A>T
c.139A>T (p.Ile47Phe)
c.273A>T
c.238A>T (p.Ile80Phe)
c.18A>T
c.231A>T
 gnomAD v4
2g.32064229T>ACA346602478SPASTc.398T>A (p.Ile133Asn)
c.282T>A
c.268T>A
c.140T>A (p.Ile47Asn)
c.274T>A
c.239T>A (p.Ile80Asn)
c.19T>A
c.232T>A
2g.32064229T>CCA346602479SPASTc.398T>C (p.Ile133Thr)
c.282T>C
c.268T>C
c.140T>C (p.Ile47Thr)
c.274T>C
c.239T>C (p.Ile80Thr)
c.19T>C
c.232T>C
 dbSNP
2g.32064229T>GCA346602480SPASTc.398T>G (p.Ile133Ser)
c.282T>G
c.268T>G
c.140T>G (p.Ile47Ser)
c.274T>G
c.239T>G (p.Ile80Ser)
c.19T>G
c.232T>G
2g.32064229T=CA1242461824SPASTc.398T= (p.Ile133=)
c.282T=
c.268T=
c.140T= (p.Ile47=)
c.274T=
c.239T= (p.Ile80=)
c.19T=
c.232T=
2g.32064230C>ACA425627356SPASTc.399C>A (p.Ile133=)
c.283C>A
c.269C>A
c.141C>A (p.Ile47=)
c.275C>A
c.240C>A (p.Ile80=)
c.20C>A
c.233C>A
 gnomAD v4
2g.32064230C=CA1242461825SPASTc.399C= (p.Ile133=)
c.283C=
c.269C=
c.141C= (p.Ile47=)
c.275C=
c.240C= (p.Ile80=)
c.20C=
c.233C=
2g.32064230C>GCA346602481SPASTc.399C>G (p.Ile133Met)
c.283C>G
c.269C>G
c.141C>G (p.Ile47Met)
c.275C>G
c.240C>G (p.Ile80Met)
c.20C>G
c.233C>G
2g.32064230C>TCA425627361SPASTc.399C>T (p.Ile133=)
c.283C>T
c.269C>T
c.141C>T (p.Ile47=)
c.275C>T
c.240C>T (p.Ile80=)
c.20C>T
c.233C>T
 dbSNP gnomAD v4
2g.32064231G>ACA346602483SPASTc.400G>A (p.Asp134Asn)
c.284G>A
c.270G>A
c.142G>A (p.Asp48Asn)
c.276G>A
c.241G>A (p.Asp81Asn)
c.21G>A
c.234G>A
 gnomAD v4
2g.32064231G>CCA346602484SPASTc.400G>C (p.Asp134His)
c.284G>C
c.270G>C
c.142G>C (p.Asp48His)
c.276G>C
c.241G>C (p.Asp81His)
c.21G>C
c.234G>C
 dbSNP
2g.32064231G=CA1242461826SPASTc.400G= (p.Asp134=)
c.284G=
c.270G=
c.142G= (p.Asp48=)
c.276G=
c.241G= (p.Asp81=)
c.21G=
c.234G=
2g.32064231G>TCA346602482SPASTc.400G>T (p.Asp134Tyr)
c.284G>T
c.270G>T
c.142G>T (p.Asp48Tyr)
c.276G>T
c.241G>T (p.Asp81Tyr)
c.21G>T
c.234G>T
 gnomAD v4
2g.32064232A>CCA346602485SPASTc.401A>C (p.Asp134Ala)
c.285A>C
c.271A>C
c.143A>C (p.Asp48Ala)
c.277A>C
c.242A>C (p.Asp81Ala)
c.22A>C
c.235A>C
2g.32064232A>GCA346602486SPASTc.401A>G (p.Asp134Gly)
c.285A>G
c.271A>G
c.143A>G (p.Asp48Gly)
c.277A>G
c.242A>G (p.Asp81Gly)
c.22A>G
c.235A>G
 gnomAD v4
2g.32064232A>TCA346602487SPASTc.401A>T (p.Asp134Val)
c.285A>T
c.271A>T
c.143A>T (p.Asp48Val)
c.277A>T
c.242A>T (p.Asp81Val)
c.22A>T
c.235A>T
 gnomAD v4
2g.32064233T>ACA346602488SPASTc.402T>A (p.Asp134Glu)
c.286T>A
c.272T>A
c.144T>A (p.Asp48Glu)
c.278T>A
c.243T>A (p.Asp81Glu)
c.23T>A
c.236T>A
 gnomAD v4
2g.32064233T>CCA425627372SPASTc.402T>C (p.Asp134=)
c.286T>C
c.272T>C
c.144T>C (p.Asp48=)
c.278T>C
c.243T>C (p.Asp81=)
c.23T>C
c.236T>C
 ClinVar gnomAD v4
2g.32064233T>GCA346602489SPASTc.402T>G (p.Asp134Glu)
c.286T>G
c.272T>G
c.144T>G (p.Asp48Glu)
c.278T>G
c.243T>G (p.Asp81Glu)
c.23T>G
c.236T>G
 gnomAD v3 gnomAD v4
2g.32064234G>ACA346602492SPASTc.403G>A (p.Glu135Lys)
c.287G>A
c.273G>A
c.145G>A (p.Glu49Lys)
c.279G>A
c.244G>A (p.Glu82Lys)
c.24G>A
c.237G>A
 gnomAD v4
2g.32064234G>CCA346602490SPASTc.403G>C (p.Glu135Gln)
c.287G>C
c.273G>C
c.145G>C (p.Glu49Gln)
c.279G>C
c.244G>C (p.Glu82Gln)
c.24G>C
c.237G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064234G=CA1242461827SPASTc.403G= (p.Glu135=)
c.287G=
c.273G=
c.145G= (p.Glu49=)
c.279G=
c.244G= (p.Glu82=)
c.24G=
c.237G=
2g.32064234G>TCA346602491SPASTc.403G>T (p.Glu135Ter)
c.287G>T
c.273G>T
c.145G>T (p.Glu49Ter)
c.279G>T
c.244G>T (p.Glu82Ter)
c.24G>T
c.237G>T
 dbSNP gnomAD v4
2g.32064235A=CA1242461828SPASTc.404A= (p.Glu135=)
c.288A=
c.274A=
c.146A= (p.Glu49=)
c.280A=
c.245A= (p.Glu82=)
c.25A=
c.238A=
2g.32064235A>CCA346602493SPASTc.404A>C (p.Glu135Ala)
c.288A>C
c.274A>C
c.146A>C (p.Glu49Ala)
c.280A>C
c.245A>C (p.Glu82Ala)
c.25A>C
c.238A>C
 gnomAD v4
2g.32064235A>GCA346602494SPASTc.404A>G (p.Glu135Gly)
c.288A>G
c.274A>G
c.146A>G (p.Glu49Gly)
c.280A>G
c.245A>G (p.Glu82Gly)
c.25A>G
c.238A>G
 gnomAD v4
2g.32064235A>TCA346602495SPASTc.404A>T (p.Glu135Val)
c.288A>T
c.274A>T
c.146A>T (p.Glu49Val)
c.280A>T
c.245A>T (p.Glu82Val)
c.25A>T
c.238A>T
 gnomAD v4
2g.32064236G>ACA425627393SPASTc.405G>A (p.Glu135=)
c.289G>A
c.275G>A
c.147G>A (p.Glu49=)
c.281G>A
c.246G>A (p.Glu82=)
c.26G>A
c.239G>A
 gnomAD v4
2g.32064236G>CCA45201413SPASTc.405G>C (p.Glu135Asp)
c.289G>C
c.275G>C
c.147G>C (p.Glu49Asp)
c.281G>C
c.246G>C (p.Glu82Asp)
c.26G>C
c.239G>C
 dbSNP gnomAD v4
2g.32064236G=CA1242461829SPASTc.405G= (p.Glu135=)
c.289G=
c.275G=
c.147G= (p.Glu49=)
c.281G=
c.246G= (p.Glu82=)
c.26G=
c.239G=

Number of alleles fetched