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.32064153_32064181delCA2586968946SPASTc.322_350del (p.Val108SerfsTer18)
c.206_234del
c.192_220del
c.64_92del (p.Val22SerfsTer18)
c.198_226del
c.163_191del (p.Val55SerfsTer18)
c.156_184del
2g.32064174_32064183dupCA1242461795SPASTc.343_352dup (p.Val118AlafsTer21)
c.227_236dup
c.213_222dup
c.85_94dup (p.Val32AlafsTer21)
c.219_228dup
c.184_193dup (p.Val65AlafsTer21)
c.177_186dup
 dbSNP
2g.32064172A>CCA346602350SPASTc.341A>C (p.Glu114Ala)
c.225A>C
c.211A>C
c.83A>C (p.Glu28Ala)
c.217A>C
c.182A>C (p.Glu61Ala)
c.175A>C
 ClinVar
2g.32064172A>GCA346602346SPASTc.341A>G (p.Glu114Gly)
c.225A>G
c.211A>G
c.83A>G (p.Glu28Gly)
c.217A>G
c.182A>G (p.Glu61Gly)
c.175A>G
 gnomAD v4
2g.32064172A>TCA346602348SPASTc.341A>T (p.Glu114Val)
c.225A>T
c.211A>T
c.83A>T (p.Glu28Val)
c.217A>T
c.182A>T (p.Glu61Val)
c.175A>T
2g.32064173G>ACA425627046SPASTc.342G>A (p.Glu114=)
c.226G>A
c.212G>A
c.84G>A (p.Glu28=)
c.218G>A
c.183G>A (p.Glu61=)
c.176G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064173G>CCA346602352SPASTc.342G>C (p.Glu114Asp)
c.226G>C
c.212G>C
c.84G>C (p.Glu28Asp)
c.218G>C
c.183G>C (p.Glu61Asp)
c.176G>C
2g.32064173G=CA1242461797SPASTc.342G= (p.Glu114=)
c.226G=
c.212G=
c.84G= (p.Glu28=)
c.218G=
c.183G= (p.Glu61=)
c.176G=
2g.32064173G>TCA346602353SPASTc.342G>T (p.Glu114Asp)
c.226G>T
c.212G>T
c.84G>T (p.Glu28Asp)
c.218G>T
c.183G>T (p.Glu61Asp)
c.176G>T
 dbSNP gnomAD v4
2g.32064174C>ACA346602354SPASTc.343C>A (p.Arg115Ser)
c.227C>A
c.213C>A
c.85C>A (p.Arg29Ser)
c.219C>A
c.184C>A (p.Arg62Ser)
c.177C>A
 gnomAD v4
2g.32064174C=CA1242461798SPASTc.343C= (p.Arg115=)
c.227C=
c.213C=
c.85C= (p.Arg29=)
c.219C=
c.184C= (p.Arg62=)
c.177C=
2g.32064174C>GCA346602355SPASTc.343C>G (p.Arg115Gly)
c.227C>G
c.213C>G
c.85C>G (p.Arg29Gly)
c.219C>G
c.184C>G (p.Arg62Gly)
c.177C>G
2g.32064174C>TCA346602356SPASTc.343C>T (p.Arg115Cys)
c.227C>T
c.213C>T
c.85C>T (p.Arg29Cys)
c.219C>T
c.184C>T (p.Arg62Cys)
c.177C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064175G>ACA346602357SPASTc.344G>A (p.Arg115His)
c.228G>A
c.214G>A
c.86G>A (p.Arg29His)
c.220G>A
c.185G>A (p.Arg62His)
c.178G>A
 gnomAD v4
2g.32064175G>CCA346602358SPASTc.344G>C (p.Arg115Pro)
c.228G>C
c.214G>C
c.86G>C (p.Arg29Pro)
c.220G>C
c.185G>C (p.Arg62Pro)
c.178G>C
2g.32064175G>TCA346602359SPASTc.344G>T (p.Arg115Leu)
c.228G>T
c.214G>T
c.86G>T (p.Arg29Leu)
c.220G>T
c.185G>T (p.Arg62Leu)
c.178G>T
 gnomAD v4
2g.32064175_32064184dupCA891842789SPASTc.344_353dup (p.Phe119ArgfsTer20)
c.228_237dup
c.214_223dup
c.86_95dup (p.Phe33ArgfsTer20)
c.220_229dup
c.185_194dup (p.Phe66ArgfsTer20)
c.178_187dup
 ClinVar dbSNP
2g.32064176C>ACA425627064SPASTc.345C>A (p.Arg115=)
c.229C>A
c.215C>A
c.87C>A (p.Arg29=)
c.221C>A
c.186C>A (p.Arg62=)
c.179C>A
 gnomAD v4
2g.32064176C=CA1242461799SPASTc.345C= (p.Arg115=)
c.229C=
c.215C=
c.87C= (p.Arg29=)
c.221C=
c.186C= (p.Arg62=)
c.179C=
2g.32064176C>GCA425627061SPASTc.345C>G (p.Arg115=)
c.229C>G
c.215C>G
c.87C>G (p.Arg29=)
c.221C>G
c.186C>G (p.Arg62=)
c.179C>G
2g.32064176C>TCA425627065SPASTc.345C>T (p.Arg115=)
c.229C>T
c.215C>T
c.87C>T (p.Arg29=)
c.221C>T
c.186C>T (p.Arg62=)
c.179C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064177delCA2586968948SPASTc.346del (p.Val116SerfsTer?)
c.230del
c.216del
c.88del (p.Val30SerfsTer?)
c.222del
c.187del (p.Val63SerfsTer24)
c.180del
2g.32064177G>ACA346602360SPASTc.346G>A (p.Val116Ile)
c.230G>A
c.216G>A
c.88G>A (p.Val30Ile)
c.222G>A
c.187G>A (p.Val63Ile)
c.180G>A
 gnomAD v4
2g.32064177G>CCA346602361SPASTc.346G>C (p.Val116Leu)
c.230G>C
c.216G>C
c.88G>C (p.Val30Leu)
c.222G>C
c.187G>C (p.Val63Leu)
c.180G>C
2g.32064177G>TCA346602362SPASTc.346G>T (p.Val116Phe)
c.230G>T
c.216G>T
c.88G>T (p.Val30Phe)
c.222G>T
c.187G>T (p.Val63Phe)
c.180G>T
 gnomAD v4
2g.32064178T>ACA346602363SPASTc.347T>A (p.Val116Asp)
c.231T>A
c.217T>A
c.89T>A (p.Val30Asp)
c.223T>A
c.188T>A (p.Val63Asp)
c.181T>A
2g.32064178T>CCA346602365SPASTc.347T>C (p.Val116Ala)
c.231T>C
c.217T>C
c.89T>C (p.Val30Ala)
c.223T>C
c.188T>C (p.Val63Ala)
c.181T>C
2g.32064178T>GCA346602364SPASTc.347T>G (p.Val116Gly)
c.231T>G
c.217T>G
c.89T>G (p.Val30Gly)
c.223T>G
c.188T>G (p.Val63Gly)
c.181T>G
 ClinVar gnomAD v4
2g.32064179C>ACA425627074SPASTc.348C>A (p.Val116=)
c.232C>A
c.218C>A
c.90C>A (p.Val30=)
c.224C>A
c.189C>A (p.Val63=)
c.182C>A
 gnomAD v4
2g.32064179C>GCA425627077SPASTc.348C>G (p.Val116=)
c.232C>G
c.218C>G
c.90C>G (p.Val30=)
c.224C>G
c.189C>G (p.Val63=)
c.182C>G
2g.32064179C>TCA425627081SPASTc.348C>T (p.Val116=)
c.232C>T
c.218C>T
c.90C>T (p.Val30=)
c.224C>T
c.189C>T (p.Val63=)
c.182C>T
2g.32064180C>ACA425627085SPASTc.349C>A (p.Arg117=)
c.233C>A
c.219C>A
c.91C>A (p.Arg31=)
c.225C>A
c.190C>A (p.Arg64=)
c.183C>A
 gnomAD v4
2g.32064180C=CA1242461800SPASTc.349C= (p.Arg117=)
c.233C=
c.219C=
c.91C= (p.Arg31=)
c.225C=
c.190C= (p.Arg64=)
c.183C=
2g.32064180C>GCA346602366SPASTc.349C>G (p.Arg117Gly)
c.233C>G
c.219C>G
c.91C>G (p.Arg31Gly)
c.225C>G
c.190C>G (p.Arg64Gly)
c.183C>G
 dbSNP gnomAD v3 gnomAD v4
2g.32064180C>TCA346602367SPASTc.349C>T (p.Arg117Ter)
c.233C>T
c.219C>T
c.91C>T (p.Arg31Ter)
c.225C>T
c.190C>T (p.Arg64Ter)
c.183C>T
 dbSNP gnomAD v4
2g.32064181G>ACA346602368SPASTc.350G>A (p.Arg117Gln)
c.234G>A
c.220G>A
c.92G>A (p.Arg31Gln)
c.226G>A
c.191G>A (p.Arg64Gln)
c.184G>A
 gnomAD v4
2g.32064181G>CCA346602369SPASTc.350G>C (p.Arg117Pro)
c.234G>C
c.220G>C
c.92G>C (p.Arg31Pro)
c.226G>C
c.191G>C (p.Arg64Pro)
c.184G>C
2g.32064181G>TCA346602370SPASTc.350G>T (p.Arg117Leu)
c.234G>T
c.220G>T
c.92G>T (p.Arg31Leu)
c.226G>T
c.191G>T (p.Arg64Leu)
c.184G>T
 gnomAD v4
2g.32064182A>CCA425627091SPASTc.351A>C (p.Arg117=)
c.235A>C
c.221A>C
c.93A>C (p.Arg31=)
c.227A>C
c.192A>C (p.Arg64=)
c.185A>C
2g.32064182A>GCA425627093SPASTc.351A>G (p.Arg117=)
c.235A>G
c.221A>G
c.93A>G (p.Arg31=)
c.227A>G
c.192A>G (p.Arg64=)
c.185A>G
2g.32064182A>TCA425627094SPASTc.351A>T (p.Arg117=)
c.235A>T
c.221A>T
c.93A>T (p.Arg31=)
c.227A>T
c.192A>T (p.Arg64=)
c.185A>T
 gnomAD v4
2g.32064183G>ACA346602371SPASTc.352G>A (p.Val118Ile)
c.236G>A
c.222G>A
c.94G>A (p.Val32Ile)
c.228G>A
c.193G>A (p.Val65Ile)
c.186G>A
 gnomAD v4
2g.32064183G>CCA346602372SPASTc.352G>C (p.Val118Leu)
c.236G>C
c.222G>C
c.94G>C (p.Val32Leu)
c.228G>C
c.193G>C (p.Val65Leu)
c.186G>C
 ClinVar dbSNP gnomAD v4
2g.32064183G=CA1242461801SPASTc.352G= (p.Val118=)
c.236G=
c.222G=
c.94G= (p.Val32=)
c.228G=
c.193G= (p.Val65=)
c.186G=
2g.32064183G>TCA346602373SPASTc.352G>T (p.Val118Phe)
c.236G>T
c.222G>T
c.94G>T (p.Val32Phe)
c.228G>T
c.193G>T (p.Val65Phe)
c.186G>T
 dbSNP gnomAD v4
2g.32064184T>ACA346602374SPASTc.353T>A (p.Val118Asp)
c.237T>A
c.223T>A
c.95T>A (p.Val32Asp)
c.229T>A
c.194T>A (p.Val65Asp)
c.187T>A
2g.32064184T>CCA346602375SPASTc.353T>C (p.Val118Ala)
c.237T>C
c.223T>C
c.95T>C (p.Val32Ala)
c.229T>C
c.194T>C (p.Val65Ala)
c.187T>C
2g.32064184T>GCA346602376SPASTc.353T>G (p.Val118Gly)
c.237T>G
c.223T>G
c.95T>G (p.Val32Gly)
c.229T>G
c.194T>G (p.Val65Gly)
c.187T>G
2g.32064185C>ACA425627107SPASTc.354C>A (p.Val118=)
c.238C>A
c.224C>A
c.96C>A (p.Val32=)
c.230C>A
c.195C>A (p.Val65=)
c.188C>A
 gnomAD v4
2g.32064185C>GCA425627108SPASTc.354C>G (p.Val118=)
c.238C>G
c.224C>G
c.96C>G (p.Val32=)
c.230C>G
c.195C>G (p.Val65=)
c.188C>G
2g.32064185C>TCA425627109SPASTc.354C>T (p.Val118=)
c.238C>T
c.224C>T
c.96C>T (p.Val32=)
c.230C>T
c.195C>T (p.Val65=)
c.188C>T
 gnomAD v4
2g.32064186T>ACA346602378SPASTc.355T>A (p.Phe119Ile)
c.239T>A
c.225T>A
c.97T>A (p.Phe33Ile)
c.231T>A
c.196T>A (p.Phe66Ile)
c.189T>A
2g.32064186T>CCA346602379SPASTc.355T>C (p.Phe119Leu)
c.239T>C
c.225T>C
c.97T>C (p.Phe33Leu)
c.231T>C
c.196T>C (p.Phe66Leu)
c.189T>C
 gnomAD v4
2g.32064186T>GCA346602377SPASTc.355T>G (p.Phe119Val)
c.239T>G
c.225T>G
c.97T>G (p.Phe33Val)
c.231T>G
c.196T>G (p.Phe66Val)
c.189T>G
2g.32064187T>ACA346602380SPASTc.356T>A (p.Phe119Tyr)
c.240T>A
c.226T>A
c.98T>A (p.Phe33Tyr)
c.232T>A
c.197T>A (p.Phe66Tyr)
c.190T>A
2g.32064187T>CCA346602381SPASTc.356T>C (p.Phe119Ser)
c.240T>C
c.226T>C
c.98T>C (p.Phe33Ser)
c.232T>C
c.197T>C (p.Phe66Ser)
c.190T>C
2g.32064187T>GCA346602382SPASTc.356T>G (p.Phe119Cys)
c.240T>G
c.226T>G
c.98T>G (p.Phe33Cys)
c.232T>G
c.197T>G (p.Phe66Cys)
c.190T>G
2g.32064188C>ACA346602383SPASTc.357C>A (p.Phe119Leu)
c.241C>A
c.227C>A
c.99C>A (p.Phe33Leu)
c.233C>A
c.198C>A (p.Phe66Leu)
c.191C>A
 gnomAD v4
2g.32064188C>GCA346602384SPASTc.357C>G (p.Phe119Leu)
c.241C>G
c.227C>G
c.99C>G (p.Phe33Leu)
c.233C>G
c.198C>G (p.Phe66Leu)
c.191C>G
 gnomAD v4
2g.32064188C>TCA425627134SPASTc.357C>T (p.Phe119=)
c.241C>T
c.227C>T
c.99C>T (p.Phe33=)
c.233C>T
c.198C>T (p.Phe66=)
c.191C>T
 gnomAD v4
2g.32064189delCA2573051927SPASTc.358del (p.His120ThrfsTer?)
c.242del
c.228del
c.100del (p.His34ThrfsTer?)
c.234del
c.199del (p.His67ThrfsTer20)
c.192del
 ClinVar dbSNP
2g.32064189C>ACA346602385SPASTc.358C>A (p.His120Asn)
c.242C>A
c.228C>A
c.100C>A (p.His34Asn)
c.234C>A
c.199C>A (p.His67Asn)
c.192C>A
 ClinVar gnomAD v4
2g.32064189C>GCA346602386SPASTc.358C>G (p.His120Asp)
c.242C>G
c.228C>G
c.100C>G (p.His34Asp)
c.234C>G
c.199C>G (p.His67Asp)
c.192C>G
2g.32064189C>TCA346602387SPASTc.358C>T (p.His120Tyr)
c.242C>T
c.228C>T
c.100C>T (p.His34Tyr)
c.234C>T
c.199C>T (p.His67Tyr)
c.192C>T
2g.32064190A>CCA346602388SPASTc.359A>C (p.His120Pro)
c.243A>C
c.229A>C
c.101A>C (p.His34Pro)
c.235A>C
c.200A>C (p.His67Pro)
c.193A>C
2g.32064190A>GCA346602389SPASTc.359A>G (p.His120Arg)
c.243A>G
c.229A>G
c.101A>G (p.His34Arg)
c.235A>G
c.200A>G (p.His67Arg)
c.193A>G
2g.32064190A>TCA346602390SPASTc.359A>T (p.His120Leu)
c.243A>T
c.229A>T
c.101A>T (p.His34Leu)
c.235A>T
c.200A>T (p.His67Leu)
c.193A>T
 gnomAD v4
2g.32064191C>ACA346602391SPASTc.360C>A (p.His120Gln)
c.244C>A
c.230C>A
c.102C>A (p.His34Gln)
c.236C>A
c.201C>A (p.His67Gln)
c.194C>A
 gnomAD v4
2g.32064191C=CA1242461802SPASTc.360C= (p.His120=)
c.244C=
c.230C=
c.102C= (p.His34=)
c.236C=
c.201C= (p.His67=)
c.194C=
2g.32064191C>GCA346602392SPASTc.360C>G (p.His120Gln)
c.244C>G
c.230C>G
c.102C>G (p.His34Gln)
c.236C>G
c.201C>G (p.His67Gln)
c.194C>G
 gnomAD v4
2g.32064191C>TCA425627147SPASTc.360C>T (p.His120=)
c.244C>T
c.230C>T
c.102C>T (p.His34=)
c.236C>T
c.201C>T (p.His67=)
c.194C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064191_32064192delinsCACA1242461803SPASTc.360_361delinsCA (p.His120=)
c.244_245delinsCA
c.230_231delinsCA
c.102_103delinsCA (p.His34=)
c.236_237delinsCA
c.201_202delinsCA (p.His67=)
c.194_195delinsCA
2g.32064192A=CA1242461804SPASTc.361A= (p.Lys121=)
c.245A=
c.231A=
c.103A= (p.Lys35=)
c.237A=
c.202A= (p.Lys68=)
c.195A=
2g.32064192A>CCA346602395SPASTc.361A>C (p.Lys121Gln)
c.245A>C
c.231A>C
c.103A>C (p.Lys35Gln)
c.237A>C
c.202A>C (p.Lys68Gln)
c.195A>C
2g.32064192A>GCA346602394SPASTc.361A>G (p.Lys121Glu)
c.245A>G
c.231A>G
c.103A>G (p.Lys35Glu)
c.237A>G
c.202A>G (p.Lys68Glu)
c.195A>G
 gnomAD v4
2g.32064192A>TCA346602393SPASTc.361A>T (p.Lys121Ter)
c.245A>T
c.231A>T
c.103A>T (p.Lys35Ter)
c.237A>T
c.202A>T (p.Lys68Ter)
c.195A>T
 ClinVar dbSNP
2g.32064194delCA658657014SPASTc.363del (p.Lys121AsnfsTer?)
c.247del
c.233del
c.105del (p.Lys35AsnfsTer?)
c.239del
c.204del (p.Lys68AsnfsTer19)
c.197del
 ClinVar dbSNP
2g.32064193A>CCA346602396SPASTc.362A>C (p.Lys121Thr)
c.246A>C
c.232A>C
c.104A>C (p.Lys35Thr)
c.238A>C
c.203A>C (p.Lys68Thr)
c.196A>C
 gnomAD v4
2g.32064193A>GCA346602397SPASTc.362A>G (p.Lys121Arg)
c.246A>G
c.232A>G
c.104A>G (p.Lys35Arg)
c.238A>G
c.203A>G (p.Lys68Arg)
c.196A>G
 gnomAD v4
2g.32064193A>TCA346602398SPASTc.362A>T (p.Lys121Ile)
c.246A>T
c.232A>T
c.104A>T (p.Lys35Ile)
c.238A>T
c.203A>T (p.Lys68Ile)
c.196A>T
2g.32064194A>CCA346602399SPASTc.363A>C (p.Lys121Asn)
c.247A>C
c.233A>C
c.105A>C (p.Lys35Asn)
c.239A>C
c.204A>C (p.Lys68Asn)
c.197A>C
2g.32064194A>GCA425627152SPASTc.363A>G (p.Lys121=)
c.247A>G
c.233A>G
c.105A>G (p.Lys35=)
c.239A>G
c.204A>G (p.Lys68=)
c.197A>G
 gnomAD v4
2g.32064194A>TCA346602400SPASTc.363A>T (p.Lys121Asn)
c.247A>T
c.233A>T
c.105A>T (p.Lys35Asn)
c.239A>T
c.204A>T (p.Lys68Asn)
c.197A>T
 gnomAD v4
2g.32064195C>ACA346602401SPASTc.364C>A (p.Gln122Lys)
c.248C>A
c.234C>A
c.106C>A (p.Gln36Lys)
c.240C>A
c.205C>A (p.Gln69Lys)
c.198C>A
 gnomAD v4
2g.32064195C=CA1242461805SPASTc.364C= (p.Gln122=)
c.248C=
c.234C=
c.106C= (p.Gln36=)
c.240C=
c.205C= (p.Gln69=)
c.198C=
2g.32064195C>GCA346602402SPASTc.364C>G (p.Gln122Glu)
c.248C>G
c.234C>G
c.106C>G (p.Gln36Glu)
c.240C>G
c.205C>G (p.Gln69Glu)
c.198C>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064195C>TCA346602403SPASTc.364C>T (p.Gln122Ter)
c.248C>T
c.234C>T
c.106C>T (p.Gln36Ter)
c.240C>T
c.205C>T (p.Gln69Ter)
c.198C>T
 ClinVar dbSNP gnomAD v4
2g.32064196A=CA1242461806SPASTc.365A= (p.Gln122=)
c.249A=
c.235A=
c.107A= (p.Gln36=)
c.241A=
c.206A= (p.Gln69=)
c.199A=
2g.32064196A>CCA346602404SPASTc.365A>C (p.Gln122Pro)
c.249A>C
c.235A>C
c.107A>C (p.Gln36Pro)
c.241A>C
c.206A>C (p.Gln69Pro)
c.199A>C
 gnomAD v4
2g.32064196A>GCA346602405SPASTc.365A>G (p.Gln122Arg)
c.249A>G
c.235A>G
c.107A>G (p.Gln36Arg)
c.241A>G
c.206A>G (p.Gln69Arg)
c.199A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064196A>TCA346602406SPASTc.365A>T (p.Gln122Leu)
c.249A>T
c.235A>T
c.107A>T (p.Gln36Leu)
c.241A>T
c.206A>T (p.Gln69Leu)
c.199A>T
 dbSNP gnomAD v2
2g.32064197G>ACA425627162SPASTc.366G>A (p.Gln122=)
c.250G>A
c.236G>A
c.108G>A (p.Gln36=)
c.242G>A
c.207G>A (p.Gln69=)
c.200G>A
 gnomAD v4
2g.32064197G>CCA346602407SPASTc.366G>C (p.Gln122His)
c.250G>C
c.236G>C
c.108G>C (p.Gln36His)
c.242G>C
c.207G>C (p.Gln69His)
c.200G>C
 gnomAD v4
2g.32064197G>TCA346602408SPASTc.366G>T (p.Gln122His)
c.250G>T
c.236G>T
c.108G>T (p.Gln36His)
c.242G>T
c.207G>T (p.Gln69His)
c.200G>T
 gnomAD v4
2g.32064198G>ACA346602409SPASTc.367G>A (p.Ala123Thr)
c.251G>A
c.237G>A
c.109G>A (p.Ala37Thr)
c.243G>A
c.208G>A (p.Ala70Thr)
c.201G>A
 gnomAD v4
2g.32064198G>CCA346602411SPASTc.367G>C (p.Ala123Pro)
c.251G>C
c.237G>C
c.109G>C (p.Ala37Pro)
c.243G>C
c.208G>C (p.Ala70Pro)
c.201G>C
2g.32064198G>TCA346602410SPASTc.367G>T (p.Ala123Ser)
c.251G>T
c.237G>T
c.109G>T (p.Ala37Ser)
c.243G>T
c.208G>T (p.Ala70Ser)
c.201G>T
 gnomAD v4
2g.32064198delinsTACA2586968950SPASTc.367delinsTA (p.Ala123TyrfsTer13)
c.251delinsTA
c.237delinsTA
c.109delinsTA (p.Ala37TyrfsTer13)
c.243delinsTA
c.208delinsTA (p.Ala70TyrfsTer13)
c.201delinsTA
2g.32064199C>ACA346602412SPASTc.368C>A (p.Ala123Asp)
c.252C>A
c.238C>A
c.110C>A (p.Ala37Asp)
c.244C>A
c.209C>A (p.Ala70Asp)
c.202C>A
 gnomAD v4
2g.32064199C>GCA346602414SPASTc.368C>G (p.Ala123Gly)
c.252C>G
c.238C>G
c.110C>G (p.Ala37Gly)
c.244C>G
c.209C>G (p.Ala70Gly)
c.202C>G
2g.32064199C>TCA346602413SPASTc.368C>T (p.Ala123Val)
c.252C>T
c.238C>T
c.110C>T (p.Ala37Val)
c.244C>T
c.209C>T (p.Ala70Val)
c.202C>T
 gnomAD v4
2g.32064200dupCA2739274305SPASTc.369dup (p.Phe124LeufsTer12)
c.253dup
c.239dup
c.111dup (p.Phe38LeufsTer12)
c.245dup
c.210dup (p.Phe71LeufsTer12)
c.203dup
 ClinVar
2g.32064200C>ACA425627174SPASTc.369C>A (p.Ala123=)
c.253C>A
c.239C>A
c.111C>A (p.Ala37=)
c.245C>A
c.210C>A (p.Ala70=)
c.203C>A
 gnomAD v4
2g.32064200C=CA1242461807SPASTc.369C= (p.Ala123=)
c.253C=
c.239C=
c.111C= (p.Ala37=)
c.245C=
c.210C= (p.Ala70=)
c.203C=
2g.32064200C>GCA45201412SPASTc.369C>G (p.Ala123=)
c.253C>G
c.239C>G
c.111C>G (p.Ala37=)
c.245C>G
c.210C>G (p.Ala70=)
c.203C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064200C>TCA425627172SPASTc.369C>T (p.Ala123=)
c.253C>T
c.239C>T
c.111C>T (p.Ala37=)
c.245C>T
c.210C>T (p.Ala70=)
c.203C>T
 ClinVar dbSNP gnomAD v4
2g.32064201T>ACA346602415SPASTc.370T>A (p.Phe124Ile)
c.254T>A
c.240T>A
c.112T>A (p.Phe38Ile)
c.246T>A
c.211T>A (p.Phe71Ile)
c.204T>A
 gnomAD v4
2g.32064201T>CCA346602417SPASTc.370T>C (p.Phe124Leu)
c.254T>C
c.240T>C
c.112T>C (p.Phe38Leu)
c.246T>C
c.211T>C (p.Phe71Leu)
c.204T>C
 gnomAD v4
2g.32064201T>GCA346602416SPASTc.370T>G (p.Phe124Val)
c.254T>G
c.240T>G
c.112T>G (p.Phe38Val)
c.246T>G
c.211T>G (p.Phe71Val)
c.204T>G
2g.32064202T>ACA346602418SPASTc.371T>A (p.Phe124Tyr)
c.255T>A
c.241T>A
c.113T>A (p.Phe38Tyr)
c.247T>A
c.212T>A (p.Phe71Tyr)
c.205T>A
2g.32064202T>CCA346602420SPASTc.371T>C (p.Phe124Ser)
c.255T>C
c.241T>C
c.113T>C (p.Phe38Ser)
c.247T>C
c.212T>C (p.Phe71Ser)
c.205T>C
2g.32064202T>GCA346602419SPASTc.371T>G (p.Phe124Cys)
c.255T>G
c.241T>G
c.113T>G (p.Phe38Cys)
c.247T>G
c.212T>G (p.Phe71Cys)
c.205T>G
2g.32064203C>ACA346602421SPASTc.372C>A (p.Phe124Leu)
c.256C>A
c.242C>A
c.114C>A (p.Phe38Leu)
c.248C>A
c.213C>A (p.Phe71Leu)
c.206C>A
 gnomAD v4
2g.32064203C=CA1242461808SPASTc.372C= (p.Phe124=)
c.256C=
c.242C=
c.114C= (p.Phe38=)
c.248C=
c.213C= (p.Phe71=)
c.206C=
2g.32064203C>GCA346602422SPASTc.372C>G (p.Phe124Leu)
c.256C>G
c.242C>G
c.114C>G (p.Phe38Leu)
c.248C>G
c.213C>G (p.Phe71Leu)
c.206C>G
 ClinVar dbSNP gnomAD v4
2g.32064203C>TCA1600561SPASTc.372C>T (p.Phe124=)
c.256C>T
c.242C>T
c.114C>T (p.Phe38=)
c.248C>T
c.213C>T (p.Phe71=)
c.206C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064204G>ACA346602423SPASTc.373G>A (p.Glu125Lys)
c.257G>A
c.243G>A
c.115G>A (p.Glu39Lys)
c.249G>A
c.214G>A (p.Glu72Lys)
c.207G>A
 gnomAD v4
2g.32064204G>CCA346602425SPASTc.373G>C (p.Glu125Gln)
c.257G>C
c.243G>C
c.115G>C (p.Glu39Gln)
c.249G>C
c.214G>C (p.Glu72Gln)
c.207G>C
2g.32064204G=CA1242461809SPASTc.373G= (p.Glu125=)
c.257G=
c.243G=
c.115G= (p.Glu39=)
c.249G=
c.214G= (p.Glu72=)
c.207G=
2g.32064204G>TCA346602424SPASTc.373G>T (p.Glu125Ter)
c.257G>T
c.243G>T
c.115G>T (p.Glu39Ter)
c.249G>T
c.214G>T (p.Glu72Ter)
c.207G>T
 dbSNP gnomAD v4
2g.32064205A>CCA346602426SPASTc.374A>C (p.Glu125Ala)
c.258A>C
c.244A>C
c.116A>C (p.Glu39Ala)
c.250A>C
c.215A>C (p.Glu72Ala)
c.208A>C
2g.32064205A>GCA346602428SPASTc.374A>G (p.Glu125Gly)
c.258A>G
c.244A>G
c.116A>G (p.Glu39Gly)
c.250A>G
c.215A>G (p.Glu72Gly)
c.208A>G
2g.32064205A>TCA346602427SPASTc.374A>T (p.Glu125Val)
c.258A>T
c.244A>T
c.116A>T (p.Glu39Val)
c.250A>T
c.215A>T (p.Glu72Val)
c.208A>T
 gnomAD v4
2g.32064206G>ACA425627213SPASTc.375G>A (p.Glu125=)
c.259G>A
c.245G>A
c.117G>A (p.Glu39=)
c.251G>A
c.216G>A (p.Glu72=)
c.209G>A
 gnomAD v4
2g.32064206G>CCA346602429SPASTc.375G>C (p.Glu125Asp)
c.259G>C
c.245G>C
c.117G>C (p.Glu39Asp)
c.251G>C
c.216G>C (p.Glu72Asp)
c.209G>C
2g.32064206G>TCA346602430SPASTc.375G>T (p.Glu125Asp)
c.259G>T
c.245G>T
c.117G>T (p.Glu39Asp)
c.251G>T
c.216G>T (p.Glu72Asp)
c.209G>T
 gnomAD v4
2g.32064207T>ACA346602431SPASTc.376T>A (p.Tyr126Asn)
c.260T>A
c.246T>A
c.118T>A (p.Tyr40Asn)
c.252T>A
c.217T>A (p.Tyr73Asn)
c.210T>A
2g.32064207T>CCA346602432SPASTc.376T>C (p.Tyr126His)
c.260T>C
c.246T>C
c.118T>C (p.Tyr40His)
c.252T>C
c.217T>C (p.Tyr73His)
c.210T>C
 gnomAD v4
2g.32064207T>GCA346602433SPASTc.376T>G (p.Tyr126Asp)
c.260T>G
c.246T>G
c.118T>G (p.Tyr40Asp)
c.252T>G
c.217T>G (p.Tyr73Asp)
c.210T>G
2g.32064207_32064208dupCA2586968951SPASTc.376_377dup (p.Ile127ThrfsTer?)
c.260_261dup
c.246_247dup
c.118_119dup (p.Ile41ThrfsTer?)
c.252_253dup
c.217_218dup (p.Ile74ThrfsTer14)
c.210_211dup
2g.32064208A=CA1242461810SPASTc.377A= (p.Tyr126=)
c.261A=
c.247A=
c.119A= (p.Tyr40=)
c.253A=
c.218A= (p.Tyr73=)
c.211A=
2g.32064208A>CCA346602435SPASTc.377A>C (p.Tyr126Ser)
c.261A>C
c.247A>C
c.119A>C (p.Tyr40Ser)
c.253A>C
c.218A>C (p.Tyr73Ser)
c.211A>C
2g.32064208A>GCA1600562SPASTc.377A>G (p.Tyr126Cys)
c.261A>G
c.247A>G
c.119A>G (p.Tyr40Cys)
c.253A>G
c.218A>G (p.Tyr73Cys)
c.211A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064208A>TCA346602434SPASTc.377A>T (p.Tyr126Phe)
c.261A>T
c.247A>T
c.119A>T (p.Tyr40Phe)
c.253A>T
c.218A>T (p.Tyr73Phe)
c.211A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064209C>ACA346602436SPASTc.378C>A (p.Tyr126Ter)
c.262C>A
c.248C>A
c.120C>A (p.Tyr40Ter)
c.254C>A
c.219C>A (p.Tyr73Ter)
c.212C>A
 gnomAD v4
2g.32064209C=CA1242461811SPASTc.378C= (p.Tyr126=)
c.262C=
c.248C=
c.120C= (p.Tyr40=)
c.254C=
c.219C= (p.Tyr73=)
c.212C=
2g.32064209C>GCA346602437SPASTc.378C>G (p.Tyr126Ter)
c.262C>G
c.248C>G
c.120C>G (p.Tyr40Ter)
c.254C>G
c.219C>G (p.Tyr73Ter)
c.212C>G
 gnomAD v4
2g.32064209C>TCA1600563SPASTc.378C>T (p.Tyr126=)
c.262C>T
c.248C>T
c.120C>T (p.Tyr40=)
c.254C>T
c.219C>T (p.Tyr73=)
c.212C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064210A=CA1242461812SPASTc.379A= (p.Ile127=)
c.263A=
c.249A=
c.121A= (p.Ile41=)
c.255A=
c.220A= (p.Ile74=)
c.213A=
2g.32064210A>CCA346602438SPASTc.379A>C (p.Ile127Leu)
c.263A>C
c.249A>C
c.121A>C (p.Ile41Leu)
c.255A>C
c.220A>C (p.Ile74Leu)
c.213A>C
 dbSNP gnomAD v2 gnomAD v4
2g.32064210A>GCA346602439SPASTc.379A>G (p.Ile127Val)
c.263A>G
c.249A>G
c.121A>G (p.Ile41Val)
c.255A>G
c.220A>G (p.Ile74Val)
c.213A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064210A>TCA346602440SPASTc.379A>T (p.Ile127Phe)
c.263A>T
c.249A>T
c.121A>T (p.Ile41Phe)
c.255A>T
c.220A>T (p.Ile74Phe)
c.213A>T
2g.32064210_32064211dupCA2576929940SPASTc.379_380dup (p.Ile129ProfsTer?)
c.263_264dup
c.249_250dup
c.121_122dup (p.Ile43ProfsTer?)
c.255_256dup
c.220_221dup (p.Ile76ProfsTer12)
c.213_214dup
2g.32064211T>ACA346602441SPASTc.380T>A (p.Ile127Asn)
c.264T>A
c.250T>A
c.122T>A (p.Ile41Asn)
c.256T>A
c.221T>A (p.Ile74Asn)
c.1T>A
c.214T>A
 gnomAD v4
2g.32064211T>CCA346602443SPASTc.380T>C (p.Ile127Thr)
c.264T>C
c.250T>C
c.122T>C (p.Ile41Thr)
c.256T>C
c.221T>C (p.Ile74Thr)
c.1T>C
c.214T>C
 gnomAD v4
2g.32064211T>GCA346602442SPASTc.380T>G (p.Ile127Ser)
c.264T>G
c.250T>G
c.122T>G (p.Ile41Ser)
c.256T>G
c.221T>G (p.Ile74Ser)
c.1T>G
c.214T>G
 gnomAD v4
2g.32064212C>ACA425627234SPASTc.381C>A (p.Ile127=)
c.265C>A
c.251C>A
c.123C>A (p.Ile41=)
c.257C>A
c.222C>A (p.Ile74=)
c.2C>A
c.215C>A
 gnomAD v4
2g.32064212C=CA1242461813SPASTc.381C= (p.Ile127=)
c.265C=
c.251C=
c.123C= (p.Ile41=)
c.257C=
c.222C= (p.Ile74=)
c.2C=
c.215C=
2g.32064212C>GCA346602444SPASTc.381C>G (p.Ile127Met)
c.265C>G
c.251C>G
c.123C>G (p.Ile41Met)
c.257C>G
c.222C>G (p.Ile74Met)
c.2C>G
c.215C>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064212C>TCA425627235SPASTc.381C>T (p.Ile127=)
c.265C>T
c.251C>T
c.123C>T (p.Ile41=)
c.257C>T
c.222C>T (p.Ile74=)
c.2C>T
c.215C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064213delCA2586968952SPASTc.382del (p.Ser128ProfsTer?)
c.266del
c.252del
c.124del (p.Ser42ProfsTer?)
c.258del
c.223del (p.Ser75ProfsTer12)
c.3del
c.216del
2g.32064213T>ACA346602445SPASTc.382T>A (p.Ser128Thr)
c.266T>A
c.252T>A
c.124T>A (p.Ser42Thr)
c.258T>A
c.223T>A (p.Ser75Thr)
c.3T>A
c.216T>A
 gnomAD v4
2g.32064213T>CCA346602446SPASTc.382T>C (p.Ser128Pro)
c.266T>C
c.252T>C
c.124T>C (p.Ser42Pro)
c.258T>C
c.223T>C (p.Ser75Pro)
c.3T>C
c.216T>C
 gnomAD v4
2g.32064213T>GCA346602447SPASTc.382T>G (p.Ser128Ala)
c.266T>G
c.252T>G
c.124T>G (p.Ser42Ala)
c.258T>G
c.223T>G (p.Ser75Ala)
c.3T>G
c.216T>G
 dbSNP gnomAD v4
2g.32064213T=CA1242461814SPASTc.382T= (p.Ser128=)
c.266T=
c.252T=
c.124T= (p.Ser42=)
c.258T=
c.223T= (p.Ser75=)
c.3T=
c.216T=
2g.32064214C>ACA346602448SPASTc.383C>A (p.Ser128Tyr)
c.267C>A
c.253C>A
c.125C>A (p.Ser42Tyr)
c.259C>A
c.224C>A (p.Ser75Tyr)
c.4C>A
c.217C>A
 gnomAD v4
2g.32064214C>GCA346602449SPASTc.383C>G (p.Ser128Cys)
c.267C>G
c.253C>G
c.125C>G (p.Ser42Cys)
c.259C>G
c.224C>G (p.Ser75Cys)
c.4C>G
c.217C>G
 gnomAD v4
2g.32064214C>TCA346602450SPASTc.383C>T (p.Ser128Phe)
c.267C>T
c.253C>T
c.125C>T (p.Ser42Phe)
c.259C>T
c.224C>T (p.Ser75Phe)
c.4C>T
c.217C>T
 gnomAD v4
2g.32064215C>ACA425627240SPASTc.384C>A (p.Ser128=)
c.268C>A
c.254C>A
c.126C>A (p.Ser42=)
c.260C>A
c.225C>A (p.Ser75=)
c.5C>A
c.218C>A
 gnomAD v4
2g.32064215C=CA1242461815SPASTc.384C= (p.Ser128=)
c.268C=
c.254C=
c.126C= (p.Ser42=)
c.260C=
c.225C= (p.Ser75=)
c.5C=
c.218C=
2g.32064215C>GCA425627241SPASTc.384C>G (p.Ser128=)
c.268C>G
c.254C>G
c.126C>G (p.Ser42=)
c.260C>G
c.225C>G (p.Ser75=)
c.5C>G
c.218C>G
 gnomAD v4
2g.32064215C>TCA425627242SPASTc.384C>T (p.Ser128=)
c.268C>T
c.254C>T
c.126C>T (p.Ser42=)
c.260C>T
c.225C>T (p.Ser75=)
c.5C>T
c.218C>T
 dbSNP gnomAD v4
2g.32064216A=CA1242461816SPASTc.385A= (p.Ile129=)
c.269A=
c.255A=
c.127A= (p.Ile43=)
c.261A=
c.226A= (p.Ile76=)
c.6A=
c.219A=
2g.32064216A>CCA346602451SPASTc.385A>C (p.Ile129Leu)
c.269A>C
c.255A>C
c.127A>C (p.Ile43Leu)
c.261A>C
c.226A>C (p.Ile76Leu)
c.6A>C
c.219A>C
 gnomAD v4
2g.32064216A>GCA346602452SPASTc.385A>G (p.Ile129Val)
c.269A>G
c.255A>G
c.127A>G (p.Ile43Val)
c.261A>G
c.226A>G (p.Ile76Val)
c.6A>G
c.219A>G
 ClinVar dbSNP gnomAD v4
2g.32064216A>TCA346602453SPASTc.385A>T (p.Ile129Phe)
c.269A>T
c.255A>T
c.127A>T (p.Ile43Phe)
c.261A>T
c.226A>T (p.Ile76Phe)
c.6A>T
c.219A>T
 gnomAD v4 COSMIC
2g.32064217T>ACA346602454SPASTc.386T>A (p.Ile129Asn)
c.270T>A
c.256T>A
c.128T>A (p.Ile43Asn)
c.262T>A
c.227T>A (p.Ile76Asn)
c.7T>A
c.220T>A
2g.32064217T>CCA346602456SPASTc.386T>C (p.Ile129Thr)
c.270T>C
c.256T>C
c.128T>C (p.Ile43Thr)
c.262T>C
c.227T>C (p.Ile76Thr)
c.7T>C
c.220T>C
 gnomAD v4
2g.32064217T>GCA346602455SPASTc.386T>G (p.Ile129Ser)
c.270T>G
c.256T>G
c.128T>G (p.Ile43Ser)
c.262T>G
c.227T>G (p.Ile76Ser)
c.7T>G
c.220T>G
2g.32064217_32064222delinsTTGCCCCA1242461817SPASTc.386_391delinsTTGCCC (p.Ile129=)
c.270_275delinsTTGCCC
c.256_261delinsTTGCCC
c.128_133delinsTTGCCC (p.Ile43=)
c.262_267delinsTTGCCC
c.227_232delinsTTGCCC (p.Ile76=)
c.7_12delinsTTGCCC
c.220_225delinsTTGCCC
2g.32064218T>ACA425627257SPASTc.387T>A (p.Ile129=)
c.271T>A
c.257T>A
c.129T>A (p.Ile43=)
c.263T>A
c.228T>A (p.Ile76=)
c.8T>A
c.221T>A
 gnomAD v4
2g.32064218T>CCA425627261SPASTc.387T>C (p.Ile129=)
c.271T>C
c.257T>C
c.129T>C (p.Ile43=)
c.263T>C
c.228T>C (p.Ile76=)
c.8T>C
c.221T>C
 gnomAD v4
2g.32064218T>GCA346602457SPASTc.387T>G (p.Ile129Met)
c.271T>G
c.257T>G
c.129T>G (p.Ile43Met)
c.263T>G
c.228T>G (p.Ile76Met)
c.8T>G
c.221T>G
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.32064219G>ACA346602458SPASTc.388G>A (p.Ala130Thr)
c.272G>A
c.258G>A
c.130G>A (p.Ala44Thr)
c.264G>A
c.229G>A (p.Ala77Thr)
c.9G>A
c.222G>A
 gnomAD v4
2g.32064219G>CCA346602459SPASTc.388G>C (p.Ala130Pro)
c.272G>C
c.258G>C
c.130G>C (p.Ala44Pro)
c.264G>C
c.229G>C (p.Ala77Pro)
c.9G>C
c.222G>C
 gnomAD v4
2g.32064219G>TCA346602460SPASTc.388G>T (p.Ala130Ser)
c.272G>T
c.258G>T
c.130G>T (p.Ala44Ser)
c.264G>T
c.229G>T (p.Ala77Ser)
c.9G>T
c.222G>T
 gnomAD v4
2g.32064220C>ACA346602461SPASTc.389C>A (p.Ala130Asp)
c.273C>A
c.259C>A
c.131C>A (p.Ala44Asp)
c.265C>A
c.230C>A (p.Ala77Asp)
c.10C>A
c.223C>A
 gnomAD v4
2g.32064220C=CA1242461819SPASTc.389C= (p.Ala130=)
c.273C=
c.259C=
c.131C= (p.Ala44=)
c.265C=
c.230C= (p.Ala77=)
c.10C=
c.223C=
2g.32064220C>GCA346602462SPASTc.389C>G (p.Ala130Gly)
c.273C>G
c.259C>G
c.131C>G (p.Ala44Gly)
c.265C>G
c.230C>G (p.Ala77Gly)
c.10C>G
c.223C>G
 gnomAD v4
2g.32064220C>TCA346602463SPASTc.389C>T (p.Ala130Val)
c.273C>T
c.259C>T
c.131C>T (p.Ala44Val)
c.265C>T
c.230C>T (p.Ala77Val)
c.10C>T
c.223C>T
 dbSNP gnomAD v3 gnomAD v4
2g.32064220_32064222delinsCCCCA1242461818SPASTc.389_391delinsCCC (p.Ala130=)
c.273_275delinsCCC
c.259_261delinsCCC
c.131_133delinsCCC (p.Ala44=)
c.265_267delinsCCC
c.230_232delinsCCC (p.Ala77=)
c.10_12delinsCCC
c.223_225delinsCCC
2g.32064221_32064222delCA2573051928SPASTc.390_391del (p.Leu131AlafsTer4)
c.274_275del
c.260_261del
c.132_133del (p.Leu45AlafsTer4)
c.266_267del
c.231_232del (p.Leu78AlafsTer4)
c.11_12del
c.224_225del
 ClinVar dbSNP
2g.32064221C>ACA425627280SPASTc.390C>A (p.Ala130=)
c.274C>A
c.260C>A
c.132C>A (p.Ala44=)
c.266C>A
c.231C>A (p.Ala77=)
c.11C>A
c.224C>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064221C=CA1242461820SPASTc.390C= (p.Ala130=)
c.274C=
c.260C=
c.132C= (p.Ala44=)
c.266C=
c.231C= (p.Ala77=)
c.11C=
c.224C=
2g.32064221C>GCA425627282SPASTc.390C>G (p.Ala130=)
c.274C>G
c.260C>G
c.132C>G (p.Ala44=)
c.266C>G
c.231C>G (p.Ala77=)
c.11C>G
c.224C>G
 ClinVar gnomAD v4
2g.32064221C>TCA425627281SPASTc.390C>T (p.Ala130=)
c.274C>T
c.260C>T
c.132C>T (p.Ala44=)
c.266C>T
c.231C>T (p.Ala77=)
c.11C>T
c.224C>T
 gnomAD v4
2g.32064221_32064222delinsGGTCA16610759SPASTc.390_391delinsGGT (p.Leu131ValfsTer5)
c.274_275delinsGGT
c.260_261delinsGGT
c.132_133delinsGGT (p.Leu45ValfsTer5)
c.266_267delinsGGT
c.231_232delinsGGT (p.Leu78ValfsTer5)
c.11_12delinsGGT
c.224_225delinsGGT
 ClinVar dbSNP
2g.32064222C>ACA346602464SPASTc.391C>A (p.Leu131Met)
c.275C>A
c.261C>A
c.133C>A (p.Leu45Met)
c.267C>A
c.232C>A (p.Leu78Met)
c.12C>A
c.225C>A
 gnomAD v4
2g.32064222C=CA1242461821SPASTc.391C= (p.Leu131=)
c.275C=
c.261C=
c.133C= (p.Leu45=)
c.267C=
c.232C= (p.Leu78=)
c.12C=
c.225C=
2g.32064222C>GCA346602465SPASTc.391C>G (p.Leu131Val)
c.275C>G
c.261C>G
c.133C>G (p.Leu45Val)
c.267C>G
c.232C>G (p.Leu78Val)
c.12C>G
c.225C>G
2g.32064222C>TCA425627284SPASTc.391C>T (p.Leu131=)
c.275C>T
c.261C>T
c.133C>T (p.Leu45=)
c.267C>T
c.232C>T (p.Leu78=)
c.12C>T
c.225C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064222_32064223insGGTCA2573051929SPASTc.391_392insGGT (p.Ala130_Leu131insArg)
c.275_276insGGT
c.261_262insGGT
c.133_134insGGT (p.Ala44_Leu45insArg)
c.267_268insGGT
c.232_233insGGT (p.Ala77_Leu78insArg)
c.12_13insGGT
c.225_226insGGT
 ClinVar dbSNP
2g.32064223T>ACA346602466SPASTc.392T>A (p.Leu131Gln)
c.276T>A
c.262T>A
c.134T>A (p.Leu45Gln)
c.268T>A
c.233T>A (p.Leu78Gln)
c.13T>A
c.226T>A
2g.32064223T>CCA346602467SPASTc.392T>C (p.Leu131Pro)
c.276T>C
c.262T>C
c.134T>C (p.Leu45Pro)
c.268T>C
c.233T>C (p.Leu78Pro)
c.13T>C
c.226T>C
 gnomAD v4
2g.32064223T>GCA346602468SPASTc.392T>G (p.Leu131Arg)
c.276T>G
c.262T>G
c.134T>G (p.Leu45Arg)
c.268T>G
c.233T>G (p.Leu78Arg)
c.13T>G
c.226T>G
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=
2g.32064236G>TCA346602496SPASTc.405G>T (p.Glu135Asp)
c.289G>T
c.275G>T
c.147G>T (p.Glu49Asp)
c.281G>T
c.246G>T (p.Glu82Asp)
c.26G>T
c.239G>T
 gnomAD v4
2g.32064236_32064240dupCA1139656845SPASTc.405_409dup (p.Glu137GlyfsTer?)
c.405_409dup (p.Glu137GlyfsTer26)
c.405_409dup (p.Glu137GlyfsTer25)
c.289_293dup
c.275_279dup
c.147_151dup (p.Glu51GlyfsTer26)
c.281_285dup
c.246_250dup (p.Glu84GlyfsTer5)
c.26_30dup
c.239_243dup
 ClinVar dbSNP
2g.32064237G>ACA346602499SPASTc.406G>A (p.Asp136Asn)
c.290G>A
c.276G>A
c.148G>A (p.Asp50Asn)
c.282G>A
c.247G>A (p.Asp83Asn)
c.27G>A
c.240G>A
 gnomAD v4
2g.32064237G>CCA346602497SPASTc.406G>C (p.Asp136His)
c.290G>C
c.276G>C
c.148G>C (p.Asp50His)
c.282G>C
c.247G>C (p.Asp83His)
c.27G>C
c.240G>C
2g.32064237G>TCA346602498SPASTc.406G>T (p.Asp136Tyr)
c.290G>T
c.276G>T
c.148G>T (p.Asp50Tyr)
c.282G>T
c.247G>T (p.Asp83Tyr)
c.27G>T
c.240G>T
 gnomAD v4
2g.32064238A>CCA346602500SPASTc.407A>C (p.Asp136Ala)
c.291A>C
c.277A>C
c.149A>C (p.Asp50Ala)
c.283A>C
c.248A>C (p.Asp83Ala)
c.28A>C
c.241A>C
2g.32064238A>GCA346602501SPASTc.407A>G (p.Asp136Gly)
c.291A>G
c.277A>G
c.149A>G (p.Asp50Gly)
c.283A>G
c.248A>G (p.Asp83Gly)
c.28A>G
c.241A>G
 gnomAD v4
2g.32064238A>TCA346602502SPASTc.407A>T (p.Asp136Val)
c.291A>T
c.277A>T
c.149A>T (p.Asp50Val)
c.283A>T
c.248A>T (p.Asp83Val)
c.28A>T
c.241A>T
 gnomAD v4
2g.32064239T>ACA346602503SPASTc.408T>A (p.Asp136Glu)
c.292T>A
c.278T>A
c.150T>A (p.Asp50Glu)
c.284T>A
c.249T>A (p.Asp83Glu)
c.29T>A
c.242T>A
 gnomAD v4
2g.32064239T>CCA425627400SPASTc.408T>C (p.Asp136=)
c.292T>C
c.278T>C
c.150T>C (p.Asp50=)
c.284T>C
c.249T>C (p.Asp83=)
c.29T>C
c.242T>C
 dbSNP gnomAD v2 gnomAD v4
2g.32064239T>GCA346602504SPASTc.408T>G (p.Asp136Glu)
c.292T>G
c.278T>G
c.150T>G (p.Asp50Glu)
c.284T>G
c.249T>G (p.Asp83Glu)
c.29T>G
c.242T>G
 dbSNP gnomAD v3 gnomAD v4
2g.32064239T=CA1242461830SPASTc.408T= (p.Asp136=)
c.292T=
c.278T=
c.150T= (p.Asp50=)
c.284T=
c.249T= (p.Asp83=)
c.29T=
c.242T=
2g.32064240G>ACA346602505SPASTc.409G>A (p.Glu137Lys)
c.293G>A
c.279G>A
c.151G>A (p.Glu51Lys)
c.285G>A
c.250G>A (p.Glu84Lys)
c.30G>A
c.243G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064240G>CCA346602506SPASTc.409G>C (p.Glu137Gln)
c.293G>C
c.279G>C
c.151G>C (p.Glu51Gln)
c.285G>C
c.250G>C (p.Glu84Gln)
c.30G>C
c.243G>C
 gnomAD v4
2g.32064240G=CA1242461832SPASTc.409G= (p.Glu137=)
c.293G=
c.279G=
c.151G= (p.Glu51=)
c.285G=
c.250G= (p.Glu84=)
c.30G=
c.243G=
2g.32064240G>TCA346602507SPASTc.409G>T (p.Glu137Ter)
c.293G>T
c.279G>T
c.151G>T (p.Glu51Ter)
c.285G>T
c.250G>T (p.Glu84Ter)
c.30G>T
c.243G>T
 gnomAD v4
2g.32064240_32064241delinsGACA1242461831SPASTc.409_410delinsGA (p.Glu137=)
c.293_294delinsGA
c.279_280delinsGA
c.151_152delinsGA (p.Glu51=)
c.285_286delinsGA
c.250_251delinsGA (p.Glu84=)
c.30_31delinsGA
c.243_244delinsGA
2g.32064242_32064243dupCA2697547980SPASTc.411_412dup (p.Lys138ArgfsTer?)
c.411_412dup (p.Lys138ArgfsTer24)
c.411_412dup (p.Lys138ArgfsTer23)
c.295_296dup
c.281_282dup
c.153_154dup (p.Lys52ArgfsTer24)
c.287_288dup
c.252_253dup (p.Lys85ArgfsTer3)
c.32_33dup
c.245_246dup
 ClinVar
2g.32064241delCA16610746SPASTc.410del (p.Glu137GlyfsTer?)
c.410del (p.Glu137GlyfsTer24)
c.410del (p.Glu137GlyfsTer23)
c.294del
c.280del
c.152del (p.Glu51GlyfsTer24)
c.286del
c.251del (p.Glu84GlyfsTer3)
c.31del
c.244del
 ClinVar dbSNP
2g.32064241A>CCA346602508SPASTc.410A>C (p.Glu137Ala)
c.294A>C
c.280A>C
c.152A>C (p.Glu51Ala)
c.286A>C
c.251A>C (p.Glu84Ala)
c.31A>C
c.244A>C
2g.32064241A>GCA346602509SPASTc.410A>G (p.Glu137Gly)
c.294A>G
c.280A>G
c.152A>G (p.Glu51Gly)
c.286A>G
c.251A>G (p.Glu84Gly)
c.31A>G
c.244A>G
 gnomAD v4
2g.32064241A>TCA346602510SPASTc.410A>T (p.Glu137Val)
c.294A>T
c.280A>T
c.152A>T (p.Glu51Val)
c.286A>T
c.251A>T (p.Glu84Val)
c.31A>T
c.244A>T
 gnomAD v4
2g.32064242G>ACA425627413SPASTc.411G>A (p.Glu137=)
c.295G>A
c.281G>A
c.153G>A (p.Glu51=)
c.287G>A
c.252G>A (p.Glu84=)
c.32G>A
c.245G>A
2g.32064242G>CCA346602511SPASTc.411G>C (p.Glu137Asp)
c.295G>C
c.281G>C
c.153G>C (p.Glu51Asp)
c.287G>C
c.252G>C (p.Glu84Asp)
c.32G>C
c.245G>C
 gnomAD v4
2g.32064242G>TCA346602512SPASTc.411G>T (p.Glu137Asp)
c.295G>T
c.281G>T
c.153G>T (p.Glu51Asp)
c.287G>T
c.252G>T (p.Glu84Asp)
c.32G>T
c.245G>T
 gnomAD v4
2g.32064243A=CA1242461833SPASTc.412A= (p.Lys138=)
c.296A=
c.282A=
c.154A= (p.Lys52=)
c.288A=
c.253A= (p.Lys85=)
c.33A=
c.246A=
2g.32064243A>CCA346602513SPASTc.412A>C (p.Lys138Gln)
c.296A>C
c.282A>C
c.154A>C (p.Lys52Gln)
c.288A>C
c.253A>C (p.Lys85Gln)
c.33A>C
c.246A>C
2g.32064243A>GCA346602515SPASTc.412A>G (p.Lys138Glu)
c.296A>G
c.282A>G
c.154A>G (p.Lys52Glu)
c.288A>G
c.253A>G (p.Lys85Glu)
c.33A>G
c.246A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064243A>TCA346602514SPASTc.412A>T (p.Lys138Ter)
c.296A>T
c.282A>T
c.154A>T (p.Lys52Ter)
c.288A>T
c.253A>T (p.Lys85Ter)
c.33A>T
c.246A>T
 dbSNP
2g.32064245delCA2658519903SPASTc.414del (p.Asp139MetfsTer?)
c.414del (p.Ala139GlnfsTer22)
c.414del (p.Gly139AspfsTer21)
c.298del
c.284del
c.156del (p.Ala53GlnfsTer22)
c.290del
c.255del (p.Val86Ter)
c.35del
c.248del
 gnomAD v4
2g.32064244A>CCA346602516SPASTc.413A>C (p.Lys138Thr)
c.297A>C
c.283A>C
c.155A>C (p.Lys52Thr)
c.289A>C
c.254A>C (p.Lys85Thr)
c.34A>C
c.247A>C
2g.32064244A>GCA346602517SPASTc.413A>G (p.Lys138Arg)
c.297A>G
c.283A>G
c.155A>G (p.Lys52Arg)
c.289A>G
c.254A>G (p.Lys85Arg)
c.34A>G
c.247A>G
2g.32064244A>TCA346602518SPASTc.413A>T (p.Lys138Ile)
c.297A>T
c.283A>T
c.155A>T (p.Lys52Ile)
c.289A>T
c.254A>T (p.Lys85Ile)
c.34A>T
c.247A>T
 gnomAD v4
2g.32064245A>CCA346602519SPASTc.414A>C (p.Lys138Asn)
c.298A>C
c.284A>C
c.156A>C (p.Lys52Asn)
c.290A>C
c.255A>C (p.Lys85Asn)
c.35A>C
c.248A>C
 gnomAD v4
2g.32064245A>GCA425627442SPASTc.414A>G (p.Lys138=)
c.298A>G
c.284A>G
c.156A>G (p.Lys52=)
c.290A>G
c.255A>G (p.Lys85=)
c.35A>G
c.248A>G
 gnomAD v3 gnomAD v4
2g.32064245A>TCA346602520SPASTc.414A>T (p.Lys138Asn)
c.298A>T
c.284A>T
c.156A>T (p.Lys52Asn)
c.290A>T
c.255A>T (p.Lys85Asn)
c.35A>T
c.248A>T
 gnomAD v4
2g.32064246G>ACA45201414SPASTc.415G>A (p.Asp139Asn)
c.415G>A (p.Ala139Thr)
c.415G>A (p.Gly139Arg)
c.299G>A
c.285G>A
c.157G>A (p.Ala53Thr)
c.291G>A
c.256G>A (p.Val86Ile)
c.36G>A
c.249G>A
 dbSNP gnomAD v4
2g.32064246G>CCA346602521SPASTc.415G>C (p.Asp139His)
c.415G>C (p.Ala139Pro)
c.415G>C (p.Gly139Arg)
c.299G>C
c.285G>C
c.157G>C (p.Ala53Pro)
c.291G>C
c.256G>C (p.Val86Leu)
c.36G>C
c.249G>C
 dbSNP gnomAD v2 gnomAD v4
2g.32064246G=CA1242461834SPASTc.415G= (p.Asp139=)
c.415G= (p.Ala139=)
c.415G= (p.Gly139=)
c.299G=
c.285G=
c.157G= (p.Ala53=)
c.291G=
c.256G= (p.Val86=)
c.36G=
c.249G=
2g.32064246G>TCA346602522SPASTc.415G>T (p.Asp139Tyr)
c.415G>T (p.Ala139Ser)
c.415G>T (p.Gly139Ter)
c.299G>T
c.285G>T
c.157G>T (p.Ala53Ser)
c.291G>T
c.256G>T (p.Val86Leu)
c.36G>T
c.249G>T
 gnomAD v4
2g.32064247G>ACA346602523SPASTc.415+1G>A (n.415+1G>A)
c.299+1G>A
c.285+1G>A
c.157+1G>A (n.157+1G>A)
c.291+1G>A
c.256+1G>A (n.256+1G>A)
c.36+1G>A
c.249+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064247G>CCA346602524SPASTc.415+1G>C (n.415+1G>C)
c.299+1G>C
c.285+1G>C
c.157+1G>C (n.157+1G>C)
c.291+1G>C
c.256+1G>C (n.256+1G>C)
c.36+1G>C
c.249+1G>C
 ClinVar
2g.32064247G=CA1242461835SPASTc.415+1G= (n.415+1G=)
c.299+1G=
c.285+1G=
c.157+1G= (n.157+1G=)
c.291+1G=
c.256+1G= (n.256+1G=)
c.36+1G=
c.249+1G=
2g.32064247G>TCA16604220SPASTc.415+1G>T (n.415+1G>T)
c.299+1G>T
c.285+1G>T
c.157+1G>T (n.157+1G>T)
c.291+1G>T
c.256+1G>T (n.256+1G>T)
c.36+1G>T
c.249+1G>T
 ClinVar dbSNP gnomAD v4
2g.32064248T>ACA346602525SPASTc.415+2T>A (n.415+2T>A)
c.299+2T>A
c.285+2T>A
c.157+2T>A (n.157+2T>A)
c.291+2T>A
c.256+2T>A (n.256+2T>A)
c.36+2T>A
c.249+2T>A
 gnomAD v4
2g.32064248T>CCA346602526SPASTc.415+2T>C (n.415+2T>C)
c.299+2T>C
c.285+2T>C
c.157+2T>C (n.157+2T>C)
c.291+2T>C
c.256+2T>C (n.256+2T>C)
c.36+2T>C
c.249+2T>C
 gnomAD v4
2g.32064248T>GCA346602527SPASTc.415+2T>G (n.415+2T>G)
c.299+2T>G
c.285+2T>G
c.157+2T>G (n.157+2T>G)
c.291+2T>G
c.256+2T>G (n.256+2T>G)
c.36+2T>G
c.249+2T>G
 gnomAD v4
2g.32064249A>CCA2658519904SPASTc.415+3A>C (n.415+3A>C)
c.299+3A>C
c.285+3A>C
c.157+3A>C (n.157+3A>C)
c.291+3A>C
c.256+3A>C (n.256+3A>C)
c.36+3A>C
c.249+3A>C
 gnomAD v4
2g.32064249A>GCA2658519905SPASTc.415+3A>G (n.415+3A>G)
c.299+3A>G
c.285+3A>G
c.157+3A>G (n.157+3A>G)
c.291+3A>G
c.256+3A>G (n.256+3A>G)
c.36+3A>G
c.249+3A>G
 gnomAD v4
2g.32064249A>TCA2658519906SPASTc.415+3A>T (n.415+3A>T)
c.299+3A>T
c.285+3A>T
c.157+3A>T (n.157+3A>T)
c.291+3A>T
c.256+3A>T (n.256+3A>T)
c.36+3A>T
c.249+3A>T
 gnomAD v4
2g.32064250A>CCA2658519909SPASTc.415+4A>C (n.415+4A>C)
c.299+4A>C
c.285+4A>C
c.157+4A>C (n.157+4A>C)
c.291+4A>C
c.256+4A>C (n.256+4A>C)
c.36+4A>C
c.249+4A>C
 gnomAD v4
2g.32064250A>GCA2658519907SPASTc.415+4A>G (n.415+4A>G)
c.299+4A>G
c.285+4A>G
c.157+4A>G (n.157+4A>G)
c.291+4A>G
c.256+4A>G (n.256+4A>G)
c.36+4A>G
c.249+4A>G
 gnomAD v4
2g.32064250A>TCA2658519908SPASTc.415+4A>T (n.415+4A>T)
c.299+4A>T
c.285+4A>T
c.157+4A>T (n.157+4A>T)
c.291+4A>T
c.256+4A>T (n.256+4A>T)
c.36+4A>T
c.249+4A>T
 gnomAD v4
2g.32064251C>ACA2658519910SPASTc.415+5C>A (n.415+5C>A)
c.299+5C>A
c.285+5C>A
c.157+5C>A (n.157+5C>A)
c.291+5C>A
c.256+5C>A (n.256+5C>A)
c.36+5C>A
c.249+5C>A
 gnomAD v4
2g.32064251C>TCA2658519911SPASTc.415+5C>T (n.415+5C>T)
c.299+5C>T
c.285+5C>T
c.157+5C>T (n.157+5C>T)
c.291+5C>T
c.256+5C>T (n.256+5C>T)
c.36+5C>T
c.249+5C>T
 gnomAD v4
2g.32064252T>ACA2658519913SPASTc.415+6T>A (n.415+6T>A)
c.299+6T>A
c.285+6T>A
c.157+6T>A (n.157+6T>A)
c.291+6T>A
c.256+6T>A (n.256+6T>A)
c.36+6T>A
c.249+6T>A
 gnomAD v4
2g.32064252T>CCA1242461836SPASTc.415+6T>C (n.415+6T>C)
c.299+6T>C
c.285+6T>C
c.157+6T>C (n.157+6T>C)
c.291+6T>C
c.256+6T>C (n.256+6T>C)
c.36+6T>C
c.249+6T>C
 dbSNP gnomAD v4
2g.32064252T>GCA2658519914SPASTc.415+6T>G (n.415+6T>G)
c.299+6T>G
c.285+6T>G
c.157+6T>G (n.157+6T>G)
c.291+6T>G
c.256+6T>G (n.256+6T>G)
c.36+6T>G
c.249+6T>G
 gnomAD v4
2g.32064252T=CA1242461837SPASTc.415+6T= (n.415+6T=)
c.299+6T=
c.285+6T=
c.157+6T= (n.157+6T=)
c.291+6T=
c.256+6T= (n.256+6T=)
c.36+6T=
c.249+6T=
2g.32064252_32064264delCA2658519912SPASTc.415+6_415+18del (n.415+6_415+18del)
c.299+6_299+18del
c.285+6_285+18del
c.157+6_157+18del (n.157+6_157+18del)
c.291+6_291+18del
c.256+6_256+18del (n.256+6_256+18del)
c.36+6_36+18del
c.249+6_249+18del
 dbSNP gnomAD v4
2g.32064253delCA2658519915SPASTc.415+7del (n.415+7del)
c.299+7del
c.285+7del
c.157+7del (n.157+7del)
c.291+7del
c.256+7del (n.256+7del)
c.36+7del
c.249+7del
 gnomAD v4
2g.32064253A=CA1242461838SPASTc.415+7A= (n.415+7A=)
c.299+7A=
c.285+7A=
c.157+7A= (n.157+7A=)
c.291+7A=
c.256+7A= (n.256+7A=)
c.36+7A=
c.249+7A=
2g.32064253A>CCA2658519916SPASTc.415+7A>C (n.415+7A>C)
c.299+7A>C
c.285+7A>C
c.157+7A>C (n.157+7A>C)
c.291+7A>C
c.256+7A>C (n.256+7A>C)
c.36+7A>C
c.249+7A>C
 gnomAD v4
2g.32064253A>GCA531769480SPASTc.415+7A>G (n.415+7A>G)
c.299+7A>G
c.285+7A>G
c.157+7A>G (n.157+7A>G)
c.291+7A>G
c.256+7A>G (n.256+7A>G)
c.36+7A>G
c.249+7A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064253A>TCA2658519917SPASTc.415+7A>T (n.415+7A>T)
c.299+7A>T
c.285+7A>T
c.157+7A>T (n.157+7A>T)
c.291+7A>T
c.256+7A>T (n.256+7A>T)
c.36+7A>T
c.249+7A>T
 gnomAD v4
2g.32064253_32064259delCA2749388910SPASTc.415+7_415+13del (n.415+7_415+13del)
c.299+7_299+13del
c.285+7_285+13del
c.157+7_157+13del (n.157+7_157+13del)
c.291+7_291+13del
c.256+7_256+13del (n.256+7_256+13del)
c.36+7_36+13del
c.249+7_249+13del
2g.32064260_32064272delCA2576929941SPASTc.415+14_415+26del (n.415+14_415+26del)
c.299+14_299+26del
c.285+14_285+26del
c.157+14_157+26del (n.157+14_157+26del)
c.291+14_291+26del
c.256+14_256+26del (n.256+14_256+26del)
c.36+14_36+26del
c.249+14_249+26del
 gnomAD v4
2g.32064254G>ACA2658519919SPASTc.415+8G>A (n.415+8G>A)
c.299+8G>A
c.285+8G>A
c.157+8G>A (n.157+8G>A)
c.291+8G>A
c.256+8G>A (n.256+8G>A)
c.36+8G>A
c.249+8G>A
 gnomAD v4
2g.32064254G>TCA2658519918SPASTc.415+8G>T (n.415+8G>T)
c.299+8G>T
c.285+8G>T
c.157+8G>T (n.157+8G>T)
c.291+8G>T
c.256+8G>T (n.256+8G>T)
c.36+8G>T
c.249+8G>T
 gnomAD v4
2g.32064258dupCA2658519920SPASTc.415+12dup (n.415+12dup)
c.299+12dup
c.285+12dup
c.157+12dup (n.157+12dup)
c.291+12dup
c.256+12dup (n.256+12dup)
c.36+12dup
c.249+12dup
 gnomAD v4
2g.32064258delCA531769481SPASTc.415+12del (n.415+12del)
c.299+12del
c.285+12del
c.157+12del (n.157+12del)
c.291+12del
c.256+12del (n.256+12del)
c.36+12del
c.249+12del
 gnomAD v2 gnomAD v3 gnomAD v4
2g.32064259_32064265delCA2658519921SPASTc.415+13_415+19del (n.415+13_415+19del)
c.299+13_299+19del
c.285+13_285+19del
c.157+13_157+19del (n.157+13_157+19del)
c.291+13_291+19del
c.256+13_256+19del (n.256+13_256+19del)
c.36+13_36+19del
c.249+13_249+19del
 gnomAD v4
2g.32064255G>ACA2658519922SPASTc.415+9G>A (n.415+9G>A)
c.299+9G>A
c.285+9G>A
c.157+9G>A (n.157+9G>A)
c.291+9G>A
c.256+9G>A (n.256+9G>A)
c.36+9G>A
c.249+9G>A
 gnomAD v4
2g.32064255G>TCA2658519923SPASTc.415+9G>T (n.415+9G>T)
c.299+9G>T
c.285+9G>T
c.157+9G>T (n.157+9G>T)
c.291+9G>T
c.256+9G>T (n.256+9G>T)
c.36+9G>T
c.249+9G>T
 gnomAD v4
2g.32064256G>ACA767739250SPASTc.415+10G>A (n.415+10G>A)
c.299+10G>A
c.285+10G>A
c.157+10G>A (n.157+10G>A)
c.291+10G>A
c.256+10G>A (n.256+10G>A)
c.36+10G>A
c.249+10G>A
 dbSNP gnomAD v4
2g.32064256G>CCA1028990124SPASTc.415+10G>C (n.415+10G>C)
c.299+10G>C
c.285+10G>C
c.157+10G>C (n.157+10G>C)
c.291+10G>C
c.256+10G>C (n.256+10G>C)
c.36+10G>C
c.249+10G>C
 gnomAD v3 gnomAD v4
2g.32064256G=CA1242461839SPASTc.415+10G= (n.415+10G=)
c.299+10G=
c.285+10G=
c.157+10G= (n.157+10G=)
c.291+10G=
c.256+10G= (n.256+10G=)
c.36+10G=
c.249+10G=
2g.32064256G>TCA2573051930SPASTc.415+10G>T (n.415+10G>T)
c.299+10G>T
c.285+10G>T
c.157+10G>T (n.157+10G>T)
c.291+10G>T
c.256+10G>T (n.256+10G>T)
c.36+10G>T
c.249+10G>T
 ClinVar dbSNP gnomAD v4
2g.32064259_32064263delCA2658519924SPASTc.415+13_415+17del (n.415+13_415+17del)
c.299+13_299+17del
c.285+13_285+17del
c.157+13_157+17del (n.157+13_157+17del)
c.291+13_291+17del
c.256+13_256+17del (n.256+13_256+17del)
c.36+13_36+17del
c.249+13_249+17del
 gnomAD v4
2g.32064257G>ACA2658519926SPASTc.415+11G>A (n.415+11G>A)
c.299+11G>A
c.285+11G>A
c.157+11G>A (n.157+11G>A)
c.291+11G>A
c.256+11G>A (n.256+11G>A)
c.36+11G>A
c.249+11G>A
 gnomAD v4
2g.32064257G>CCA2576929942SPASTc.415+11G>C (n.415+11G>C)
c.299+11G>C
c.285+11G>C
c.157+11G>C (n.157+11G>C)
c.291+11G>C
c.256+11G>C (n.256+11G>C)
c.36+11G>C
c.249+11G>C
 gnomAD v4
2g.32064257G>TCA2658519925SPASTc.415+11G>T (n.415+11G>T)
c.299+11G>T
c.285+11G>T
c.157+11G>T (n.157+11G>T)
c.291+11G>T
c.256+11G>T (n.256+11G>T)
c.36+11G>T
c.249+11G>T
 gnomAD v4
2g.32064258G>ACA1600565SPASTc.415+12G>A (n.415+12G>A)
c.299+12G>A
c.285+12G>A
c.157+12G>A (n.157+12G>A)
c.291+12G>A
c.256+12G>A (n.256+12G>A)
c.36+12G>A
c.249+12G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064258G>CCA1600564SPASTc.415+12G>C (n.415+12G>C)
c.299+12G>C
c.285+12G>C
c.157+12G>C (n.157+12G>C)
c.291+12G>C
c.256+12G>C (n.256+12G>C)
c.36+12G>C
c.249+12G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064258G=CA1242461840SPASTc.415+12G= (n.415+12G=)
c.299+12G=
c.285+12G=
c.157+12G= (n.157+12G=)
c.291+12G=
c.256+12G= (n.256+12G=)
c.36+12G=
c.249+12G=
2g.32064258G>TCA2658519928SPASTc.415+12G>T (n.415+12G>T)
c.299+12G>T
c.285+12G>T
c.157+12G>T (n.157+12G>T)
c.291+12G>T
c.256+12G>T (n.256+12G>T)
c.36+12G>T
c.249+12G>T
 gnomAD v4
2g.32064259_32064293delCA2658519927SPASTc.415+13_415+47del (n.415+13_415+47del)
c.299+13_299+47del
c.285+13_285+47del
c.157+13_157+47del (n.157+13_157+47del)
c.291+13_291+47del
c.256+13_256+47del (n.256+13_256+47del)
c.36+13_36+47del
c.249+13_249+47del
 gnomAD v4
2g.32064259C>ACA531769482SPASTc.415+13C>A (n.415+13C>A)
c.299+13C>A
c.285+13C>A
c.157+13C>A (n.157+13C>A)
c.291+13C>A
c.256+13C>A (n.256+13C>A)
c.36+13C>A
c.249+13C>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064259C=CA1242461841SPASTc.415+13C= (n.415+13C=)
c.299+13C=
c.285+13C=
c.157+13C= (n.157+13C=)
c.291+13C=
c.256+13C= (n.256+13C=)
c.36+13C=
c.249+13C=
2g.32064259C>GCA531769483SPASTc.415+13C>G (n.415+13C>G)
c.299+13C>G
c.285+13C>G
c.157+13C>G (n.157+13C>G)
c.291+13C>G
c.256+13C>G (n.256+13C>G)
c.36+13C>G
c.249+13C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064259C>TCA2658519930SPASTc.415+13C>T (n.415+13C>T)
c.299+13C>T
c.285+13C>T
c.157+13C>T (n.157+13C>T)
c.291+13C>T
c.256+13C>T (n.256+13C>T)
c.36+13C>T
c.249+13C>T
 gnomAD v4
2g.32064259_32064260delCA2658519929SPASTc.415+13_415+14del (n.415+13_415+14del)
c.299+13_299+14del
c.285+13_285+14del
c.157+13_157+14del (n.157+13_157+14del)
c.291+13_291+14del
c.256+13_256+14del (n.256+13_256+14del)
c.36+13_36+14del
c.249+13_249+14del
 gnomAD v4
2g.32064259_32064266delCA2658519932SPASTc.415+13_415+20del (n.415+13_415+20del)
c.299+13_299+20del
c.285+13_285+20del
c.157+13_157+20del (n.157+13_157+20del)
c.291+13_291+20del
c.256+13_256+20del (n.256+13_256+20del)
c.36+13_36+20del
c.249+13_249+20del
 gnomAD v4
2g.32064262_32064335delCA2658519931SPASTc.415+16_415+89del (n.415+16_415+89del)
c.299+16_299+89del
c.285+16_285+89del
c.157+16_157+89del (n.157+16_157+89del)
c.291+16_291+89del
c.256+16_256+89del (n.256+16_256+89del)
c.36+16_36+89del
c.249+16_249+89del
 gnomAD v4
2g.32064260delCA2595218023SPASTc.415+14del (n.415+14del)
c.299+14del
c.285+14del
c.157+14del (n.157+14del)
c.291+14del
c.256+14del (n.256+14del)
c.36+14del
c.249+14del
 gnomAD v3 gnomAD v4
2g.32064260T>ACA2658519934SPASTc.415+14T>A (n.415+14T>A)
c.299+14T>A
c.285+14T>A
c.157+14T>A (n.157+14T>A)
c.291+14T>A
c.256+14T>A (n.256+14T>A)
c.36+14T>A
c.249+14T>A
 gnomAD v4
2g.32064260T>GCA531769484SPASTc.415+14T>G (n.415+14T>G)
c.299+14T>G
c.285+14T>G
c.157+14T>G (n.157+14T>G)
c.291+14T>G
c.256+14T>G (n.256+14T>G)
c.36+14T>G
c.249+14T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.32064260T=CA1242461843SPASTc.415+14T= (n.415+14T=)
c.299+14T=
c.285+14T=
c.157+14T= (n.157+14T=)
c.291+14T=
c.256+14T= (n.256+14T=)
c.36+14T=
c.249+14T=
2g.32064260_32064261delinsTGCA1242461842SPASTc.415+14_415+15delinsTG (n.415+14_415+15delinsTG)
c.299+14_299+15delinsTG
c.285+14_285+15delinsTG
c.157+14_157+15delinsTG (n.157+14_157+15delinsTG)
c.291+14_291+15delinsTG
c.256+14_256+15delinsTG (n.256+14_256+15delinsTG)
c.36+14_36+15delinsTG
c.249+14_249+15delinsTG
2g.32064260_32064300delCA2658519933SPASTc.415+14_415+54del (n.415+14_415+54del)
c.299+14_299+54del
c.285+14_285+54del
c.157+14_157+54del (n.157+14_157+54del)
c.291+14_291+54del
c.256+14_256+54del (n.256+14_256+54del)
c.36+14_36+54del
c.249+14_249+54del
 gnomAD v4
2g.32064261G>ACA2658519936SPASTc.415+15G>A (n.415+15G>A)
c.299+15G>A
c.285+15G>A
c.157+15G>A (n.157+15G>A)
c.291+15G>A
c.256+15G>A (n.256+15G>A)
c.36+15G>A
c.249+15G>A
 gnomAD v4
2g.32064261G>CCA2530227592SPASTc.415+15G>C (n.415+15G>C)
c.299+15G>C
c.285+15G>C
c.157+15G>C (n.157+15G>C)
c.291+15G>C
c.256+15G>C (n.256+15G>C)
c.36+15G>C
c.249+15G>C
 gnomAD v4
2g.32064261G=CA1242461844SPASTc.415+15G= (n.415+15G=)
c.299+15G=
c.285+15G=
c.157+15G= (n.157+15G=)
c.291+15G=
c.256+15G= (n.256+15G=)
c.36+15G=
c.249+15G=
2g.32064261G>TCA531769486SPASTc.415+15G>T (n.415+15G>T)
c.299+15G>T
c.285+15G>T
c.157+15G>T (n.157+15G>T)
c.291+15G>T
c.256+15G>T (n.256+15G>T)
c.36+15G>T
c.249+15G>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064261_32064265delCA2576929944SPASTc.415+15_415+19del (n.415+15_415+19del)
c.299+15_299+19del
c.285+15_285+19del
c.157+15_157+19del (n.157+15_157+19del)
c.291+15_291+19del
c.256+15_256+19del (n.256+15_256+19del)
c.36+15_36+19del
c.249+15_249+19del
2g.32064265_32064266insGGGGGGGCA2658519944SPASTc.415+19_415+20insGGGGGGG (n.415+19_415+20insGGGGGGG)
c.299+19_299+20insGGGGGGG
c.285+19_285+20insGGGGGGG
c.157+19_157+20insGGGGGGG (n.157+19_157+20insGGGGGGG)
c.291+19_291+20insGGGGGGG
c.256+19_256+20insGGGGGGG (n.256+19_256+20insGGGGGGG)
c.36+19_36+20insGGGGGGG
c.249+19_249+20insGGGGGGG
 gnomAD v4
2g.32064265_32064266insGGGGGGGGCA2658519943SPASTc.415+19_415+20insGGGGGGGG (n.415+19_415+20insGGGGGGGG)
c.299+19_299+20insGGGGGGGG
c.285+19_285+20insGGGGGGGG
c.157+19_157+20insGGGGGGGG (n.157+19_157+20insGGGGGGGG)
c.291+19_291+20insGGGGGGGG
c.256+19_256+20insGGGGGGGG (n.256+19_256+20insGGGGGGGG)
c.36+19_36+20insGGGGGGGG
c.249+19_249+20insGGGGGGGG
 gnomAD v4
2g.32064265_32064266insGGGGGGGGGCA2658519942SPASTc.415+19_415+20insGGGGGGGGG (n.415+19_415+20insGGGGGGGGG)
c.299+19_299+20insGGGGGGGGG
c.285+19_285+20insGGGGGGGGG
c.157+19_157+20insGGGGGGGGG (n.157+19_157+20insGGGGGGGGG)
c.291+19_291+20insGGGGGGGGG
c.256+19_256+20insGGGGGGGGG (n.256+19_256+20insGGGGGGGGG)
c.36+19_36+20insGGGGGGGGG
c.249+19_249+20insGGGGGGGGG
 gnomAD v4
2g.32064265_32064266insGGGGGGGGGGCA2658519935SPASTc.415+19_415+20insGGGGGGGGGG (n.415+19_415+20insGGGGGGGGGG)
c.299+19_299+20insGGGGGGGGGG
c.285+19_285+20insGGGGGGGGGG
c.157+19_157+20insGGGGGGGGGG (n.157+19_157+20insGGGGGGGGGG)
c.291+19_291+20insGGGGGGGGGG
c.256+19_256+20insGGGGGGGGGG (n.256+19_256+20insGGGGGGGGGG)
c.36+19_36+20insGGGGGGGGGG
c.249+19_249+20insGGGGGGGGGG
 gnomAD v4
2g.32064265_32064266insGGGGGGGGGGGCA2658519941SPASTc.415+19_415+20insGGGGGGGGGGG (n.415+19_415+20insGGGGGGGGGGG)
c.299+19_299+20insGGGGGGGGGGG
c.285+19_285+20insGGGGGGGGGGG
c.157+19_157+20insGGGGGGGGGGG (n.157+19_157+20insGGGGGGGGGGG)
c.291+19_291+20insGGGGGGGGGGG
c.256+19_256+20insGGGGGGGGGGG (n.256+19_256+20insGGGGGGGGGGG)
c.36+19_36+20insGGGGGGGGGGG
c.249+19_249+20insGGGGGGGGGGG
 gnomAD v4
2g.32064265_32064266insGGGGGGGGGGGGGGGGCA2658519940SPASTc.415+19_415+20insGGGGGGGGGGGGGGGG (n.415+19_415+20insGGGGGGGGGGGGGGGG)
c.299+19_299+20insGGGGGGGGGGGGGGGG
c.285+19_285+20insGGGGGGGGGGGGGGGG
c.157+19_157+20insGGGGGGGGGGGGGGGG (n.157+19_157+20insGGGGGGGGGGGGGGGG)
c.291+19_291+20insGGGGGGGGGGGGGGGG
c.256+19_256+20insGGGGGGGGGGGGGGGG (n.256+19_256+20insGGGGGGGGGGGGGGGG)
c.36+19_36+20insGGGGGGGGGGGGGGGG
c.249+19_249+20insGGGGGGGGGGGGGGGG
 gnomAD v4
2g.32064265dupCA2658519948SPASTc.415+19dup (n.415+19dup)
c.299+19dup
c.285+19dup
c.157+19dup (n.157+19dup)
c.291+19dup
c.256+19dup (n.256+19dup)
c.36+19dup
c.249+19dup
 gnomAD v4
2g.32064263_32064265dupCA2658519947SPASTc.415+17_415+19dup (n.415+17_415+19dup)
c.299+17_299+19dup
c.285+17_285+19dup
c.157+17_157+19dup (n.157+17_157+19dup)
c.291+17_291+19dup
c.256+17_256+19dup (n.256+17_256+19dup)
c.36+17_36+19dup
c.249+17_249+19dup
 gnomAD v4
2g.32064265delCA531769485SPASTc.415+19del (n.415+19del)
c.299+19del
c.285+19del
c.157+19del (n.157+19del)
c.291+19del
c.256+19del (n.256+19del)
c.36+19del
c.249+19del
 dbSNP gnomAD v2 gnomAD v4
2g.32064264_32064265delCA2658519939SPASTc.415+18_415+19del (n.415+18_415+19del)
c.299+18_299+19del
c.285+18_285+19del
c.157+18_157+19del (n.157+18_157+19del)
c.291+18_291+19del
c.256+18_256+19del (n.256+18_256+19del)
c.36+18_36+19del
c.249+18_249+19del
 gnomAD v4
2g.32064265_32064271dupCA2658519946SPASTc.415+19_415+25dup (n.415+19_415+25dup)
c.299+19_299+25dup
c.285+19_285+25dup
c.157+19_157+25dup (n.157+19_157+25dup)
c.291+19_291+25dup
c.256+19_256+25dup (n.256+19_256+25dup)
c.36+19_36+25dup
c.249+19_249+25dup
 gnomAD v4
2g.32064266_32064271delCA2658519938SPASTc.415+20_415+25del (n.415+20_415+25del)
c.299+20_299+25del
c.285+20_285+25del
c.157+20_157+25del (n.157+20_157+25del)
c.291+20_291+25del
c.256+20_256+25del (n.256+20_256+25del)
c.36+20_36+25del
c.249+20_249+25del
 gnomAD v4
2g.32064262_32064274delCA2576929943SPASTc.415+16_415+28del (n.415+16_415+28del)
c.299+16_299+28del
c.285+16_285+28del
c.157+16_157+28del (n.157+16_157+28del)
c.291+16_291+28del
c.256+16_256+28del (n.256+16_256+28del)
c.36+16_36+28del
c.249+16_249+28del
2g.32064263_32064284dupCA2658519945SPASTc.415+17_415+38dup (n.415+17_415+38dup)
c.299+17_299+38dup
c.285+17_285+38dup
c.157+17_157+38dup (n.157+17_157+38dup)
c.291+17_291+38dup
c.256+17_256+38dup (n.256+17_256+38dup)
c.36+17_36+38dup
c.249+17_249+38dup
 gnomAD v4
2g.32064262_32064284dupCA2749388911SPASTc.415+16_415+38dup (n.415+16_415+38dup)
c.299+16_299+38dup
c.285+16_285+38dup
c.157+16_157+38dup (n.157+16_157+38dup)
c.291+16_291+38dup
c.256+16_256+38dup (n.256+16_256+38dup)
c.36+16_36+38dup
c.249+16_249+38dup
2g.32064270_32064313delCA1028990153SPASTc.415+24_415+67del (n.415+24_415+67del)
c.299+24_299+67del
c.285+24_285+67del
c.157+24_157+67del (n.157+24_157+67del)
c.291+24_291+67del
c.256+24_256+67del (n.256+24_256+67del)
c.36+24_36+67del
c.249+24_249+67del
 gnomAD v3 gnomAD v4
2g.32064264_32064313delCA2658519937SPASTc.415+18_415+67del (n.415+18_415+67del)
c.299+18_299+67del
c.285+18_285+67del
c.157+18_157+67del (n.157+18_157+67del)
c.291+18_291+67del
c.256+18_256+67del (n.256+18_256+67del)
c.36+18_36+67del
c.249+18_249+67del
 gnomAD v4
2g.32064261_32064262insTCA2658519951SPASTc.415+15_415+16insT (n.415+15_415+16insT)
c.299+15_299+16insT
c.285+15_285+16insT
c.157+15_157+16insT (n.157+15_157+16insT)
c.291+15_291+16insT
c.256+15_256+16insT (n.256+15_256+16insT)
c.36+15_36+16insT
c.249+15_249+16insT
 gnomAD v4
2g.32064262G>ACA2576929945SPASTc.415+16G>A (n.415+16G>A)
c.299+16G>A
c.285+16G>A
c.157+16G>A (n.157+16G>A)
c.291+16G>A
c.256+16G>A (n.256+16G>A)
c.36+16G>A
c.249+16G>A
 gnomAD v4
2g.32064262G>CCA767739265SPASTc.415+16G>C (n.415+16G>C)
c.299+16G>C
c.285+16G>C
c.157+16G>C (n.157+16G>C)
c.291+16G>C
c.256+16G>C (n.256+16G>C)
c.36+16G>C
c.249+16G>C
 dbSNP
2g.32064262G=CA1242461845SPASTc.415+16G= (n.415+16G=)
c.299+16G=
c.285+16G=
c.157+16G= (n.157+16G=)
c.291+16G=
c.256+16G= (n.256+16G=)
c.36+16G=
c.249+16G=
2g.32064262G>TCA1242461846SPASTc.415+16G>T (n.415+16G>T)
c.299+16G>T
c.285+16G>T
c.157+16G>T (n.157+16G>T)
c.291+16G>T
c.256+16G>T (n.256+16G>T)
c.36+16G>T
c.249+16G>T
 dbSNP gnomAD v4
2g.32064266_32064270delCA2658519950SPASTc.415+20_415+24del (n.415+20_415+24del)
c.299+20_299+24del
c.285+20_285+24del
c.157+20_157+24del (n.157+20_157+24del)
c.291+20_291+24del
c.256+20_256+24del (n.256+20_256+24del)
c.36+20_36+24del
c.249+20_249+24del
 gnomAD v4
2g.32064265_32064284delCA2658519952SPASTc.415+19_415+38del (n.415+19_415+38del)
c.299+19_299+38del
c.285+19_285+38del
c.157+19_157+38del (n.157+19_157+38del)
c.291+19_291+38del
c.256+19_256+38del (n.256+19_256+38del)
c.36+19_36+38del
c.249+19_249+38del
 gnomAD v4
2g.32064266_32064308delCA2658519949SPASTc.415+20_415+62del (n.415+20_415+62del)
c.299+20_299+62del
c.285+20_285+62del
c.157+20_157+62del (n.157+20_157+62del)
c.291+20_291+62del
c.256+20_256+62del (n.256+20_256+62del)
c.36+20_36+62del
c.249+20_249+62del
 gnomAD v4
2g.32064263G>ACA2658519953SPASTc.415+17G>A (n.415+17G>A)
c.299+17G>A
c.285+17G>A
c.157+17G>A (n.157+17G>A)
c.291+17G>A
c.256+17G>A (n.256+17G>A)
c.36+17G>A
c.249+17G>A
 gnomAD v4
2g.32064263G>CCA531769487SPASTc.415+17G>C (n.415+17G>C)
c.299+17G>C
c.285+17G>C
c.157+17G>C (n.157+17G>C)
c.291+17G>C
c.256+17G>C (n.256+17G>C)
c.36+17G>C
c.249+17G>C
 dbSNP gnomAD v2 gnomAD v4
2g.32064263G=CA1242461847SPASTc.415+17G= (n.415+17G=)
c.299+17G=
c.285+17G=
c.157+17G= (n.157+17G=)
c.291+17G=
c.256+17G= (n.256+17G=)
c.36+17G=
c.249+17G=
2g.32064263G>TCA1600566SPASTc.415+17G>T (n.415+17G>T)
c.299+17G>T
c.285+17G>T
c.157+17G>T (n.157+17G>T)
c.291+17G>T
c.256+17G>T (n.256+17G>T)
c.36+17G>T
c.249+17G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064266_32064269delCA2658519957SPASTc.415+20_415+23del (n.415+20_415+23del)
c.299+20_299+23del
c.285+20_285+23del
c.157+20_157+23del (n.157+20_157+23del)
c.291+20_291+23del
c.256+20_256+23del (n.256+20_256+23del)
c.36+20_36+23del
c.249+20_249+23del
 gnomAD v4
2g.32064265_32064277delCA2658519956SPASTc.415+19_415+31del (n.415+19_415+31del)
c.299+19_299+31del
c.285+19_285+31del
c.157+19_157+31del (n.157+19_157+31del)
c.291+19_291+31del
c.256+19_256+31del (n.256+19_256+31del)
c.36+19_36+31del
c.249+19_249+31del
 gnomAD v4
2g.32064266_32064298delCA2658519955SPASTc.415+20_415+52del (n.415+20_415+52del)
c.299+20_299+52del
c.285+20_285+52del
c.157+20_157+52del (n.157+20_157+52del)
c.291+20_291+52del
c.256+20_256+52del (n.256+20_256+52del)
c.36+20_36+52del
c.249+20_249+52del
 gnomAD v4
2g.32064271_32064344delCA2658519954SPASTc.415+25_415+98del (n.415+25_415+98del)
c.299+25_299+98del
c.285+25_285+98del
c.157+25_157+98del (n.157+25_157+98del)
c.291+25_291+98del
c.256+25_256+98del (n.256+25_256+98del)
c.36+25_36+98del
c.249+25_249+98del
 gnomAD v4
2g.32064264G>ACA531769488SPASTc.415+18G>A (n.415+18G>A)
c.299+18G>A
c.285+18G>A
c.157+18G>A (n.157+18G>A)
c.291+18G>A
c.256+18G>A (n.256+18G>A)
c.36+18G>A
c.249+18G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064264G=CA1242461848SPASTc.415+18G= (n.415+18G=)
c.299+18G=
c.285+18G=
c.157+18G= (n.157+18G=)
c.291+18G=
c.256+18G= (n.256+18G=)
c.36+18G=
c.249+18G=
2g.32064264G>TCA2658519962SPASTc.415+18G>T (n.415+18G>T)
c.299+18G>T
c.285+18G>T
c.157+18G>T (n.157+18G>T)
c.291+18G>T
c.256+18G>T (n.256+18G>T)
c.36+18G>T
c.249+18G>T
 gnomAD v4
2g.32064266_32064268delCA2658519958SPASTc.415+20_415+22del (n.415+20_415+22del)
c.299+20_299+22del
c.285+20_285+22del
c.157+20_157+22del (n.157+20_157+22del)
c.291+20_291+22del
c.256+20_256+22del (n.256+20_256+22del)
c.36+20_36+22del
c.249+20_249+22del
 gnomAD v4
2g.32064266_32064283delCA2658519959SPASTc.415+20_415+37del (n.415+20_415+37del)
c.299+20_299+37del
c.285+20_285+37del
c.157+20_157+37del (n.157+20_157+37del)
c.291+20_291+37del
c.256+20_256+37del (n.256+20_256+37del)
c.36+20_36+37del
c.249+20_249+37del
 gnomAD v4
2g.32064266_32064294delCA2658519960SPASTc.415+20_415+48del (n.415+20_415+48del)
c.299+20_299+48del
c.285+20_285+48del
c.157+20_157+48del (n.157+20_157+48del)
c.291+20_291+48del
c.256+20_256+48del (n.256+20_256+48del)
c.36+20_36+48del
c.249+20_249+48del
 gnomAD v4
2g.32064266_32064297delCA2658519961SPASTc.415+20_415+51del (n.415+20_415+51del)
c.299+20_299+51del
c.285+20_285+51del
c.157+20_157+51del (n.157+20_157+51del)
c.291+20_291+51del
c.256+20_256+51del (n.256+20_256+51del)
c.36+20_36+51del
c.249+20_249+51del
 gnomAD v4
2g.32064265G>ACA1028990166SPASTc.415+19G>A (n.415+19G>A)
c.299+19G>A
c.285+19G>A
c.157+19G>A (n.157+19G>A)
c.291+19G>A
c.256+19G>A (n.256+19G>A)
c.36+19G>A
c.249+19G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32064265G=CA1242461849SPASTc.415+19G= (n.415+19G=)
c.299+19G=
c.285+19G=
c.157+19G= (n.157+19G=)
c.291+19G=
c.256+19G= (n.256+19G=)
c.36+19G=
c.249+19G=
2g.32064265G>TCA2658519964SPASTc.415+19G>T (n.415+19G>T)
c.299+19G>T
c.285+19G>T
c.157+19G>T (n.157+19G>T)
c.291+19G>T
c.256+19G>T (n.256+19G>T)
c.36+19G>T
c.249+19G>T
 gnomAD v4
2g.32064266_32064267delCA2658519963SPASTc.415+20_415+21del (n.415+20_415+21del)
c.299+20_299+21del
c.285+20_285+21del
c.157+20_157+21del (n.157+20_157+21del)
c.291+20_291+21del
c.256+20_256+21del (n.256+20_256+21del)
c.36+20_36+21del
c.249+20_249+21del
 gnomAD v4
2g.32064266_32064293delCA2658519966SPASTc.415+20_415+47del (n.415+20_415+47del)
c.299+20_299+47del
c.285+20_285+47del
c.157+20_157+47del (n.157+20_157+47del)
c.291+20_291+47del
c.256+20_256+47del (n.256+20_256+47del)
c.36+20_36+47del
c.249+20_249+47del
 gnomAD v4
2g.32064266_32064296delCA2658519965SPASTc.415+20_415+50del (n.415+20_415+50del)
c.299+20_299+50del
c.285+20_285+50del
c.157+20_157+50del (n.157+20_157+50del)
c.291+20_291+50del
c.256+20_256+50del (n.256+20_256+50del)
c.36+20_36+50del
c.249+20_249+50del
 gnomAD v4
2g.32064266delCA2658519967SPASTc.415+20del (n.415+20del)
c.299+20del
c.285+20del
c.157+20del (n.157+20del)
c.291+20del
c.256+20del (n.256+20del)
c.36+20del
c.249+20del
 gnomAD v4
2g.32064266A=CA1242461850SPASTc.415+20A= (n.415+20A=)
c.299+20A=
c.285+20A=
c.157+20A= (n.157+20A=)
c.291+20A=
c.256+20A= (n.256+20A=)
c.36+20A=
c.249+20A=
2g.32064266A>CCA2658519970SPASTc.415+20A>C (n.415+20A>C)
c.299+20A>C
c.285+20A>C
c.157+20A>C (n.157+20A>C)
c.291+20A>C
c.256+20A>C (n.256+20A>C)
c.36+20A>C
c.249+20A>C
 gnomAD v4
2g.32064266A>GCA531769489SPASTc.415+20A>G (n.415+20A>G)
c.299+20A>G
c.285+20A>G
c.157+20A>G (n.157+20A>G)
c.291+20A>G
c.256+20A>G (n.256+20A>G)
c.36+20A>G
c.249+20A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064266A>TCA2576929946SPASTc.415+20A>T (n.415+20A>T)
c.299+20A>T
c.285+20A>T
c.157+20A>T (n.157+20A>T)
c.291+20A>T
c.256+20A>T (n.256+20A>T)
c.36+20A>T
c.249+20A>T
 gnomAD v3 gnomAD v4
2g.32064266_32064278delCA2658519968SPASTc.415+20_415+32del (n.415+20_415+32del)
c.299+20_299+32del
c.285+20_285+32del
c.157+20_157+32del (n.157+20_157+32del)
c.291+20_291+32del
c.256+20_256+32del (n.256+20_256+32del)
c.36+20_36+32del
c.249+20_249+32del
 gnomAD v4
2g.32064266_32064280delCA2749388912SPASTc.415+20_415+34del (n.415+20_415+34del)
c.299+20_299+34del
c.285+20_285+34del
c.157+20_157+34del (n.157+20_157+34del)
c.291+20_291+34del
c.256+20_256+34del (n.256+20_256+34del)
c.36+20_36+34del
c.249+20_249+34del
2g.32064266_32064295delCA2658519969SPASTc.415+20_415+49del (n.415+20_415+49del)
c.299+20_299+49del
c.285+20_285+49del
c.157+20_157+49del (n.157+20_157+49del)
c.291+20_291+49del
c.256+20_256+49del (n.256+20_256+49del)
c.36+20_36+49del
c.249+20_249+49del
 gnomAD v4
2g.32064267G>ACA2658519973SPASTc.415+21G>A (n.415+21G>A)
c.299+21G>A
c.285+21G>A
c.157+21G>A (n.157+21G>A)
c.291+21G>A
c.256+21G>A (n.256+21G>A)
c.36+21G>A
c.249+21G>A
 gnomAD v4
2g.32064267G>CCA2576929947SPASTc.415+21G>C (n.415+21G>C)
c.299+21G>C
c.285+21G>C
c.157+21G>C (n.157+21G>C)
c.291+21G>C
c.256+21G>C (n.256+21G>C)
c.36+21G>C
c.249+21G>C
2g.32064267G>TCA2658519972SPASTc.415+21G>T (n.415+21G>T)
c.299+21G>T
c.285+21G>T
c.157+21G>T (n.157+21G>T)
c.291+21G>T
c.256+21G>T (n.256+21G>T)
c.36+21G>T
c.249+21G>T
 gnomAD v4
2g.32064269_32064270insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGGCA2658519979SPASTc.415+23_415+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG (n.415+23_415+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG)
c.299+23_299+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG
c.285+23_285+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG
c.157+23_157+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG (n.157+23_157+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG)
c.291+23_291+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG
c.256+23_256+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG (n.256+23_256+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG)
c.36+23_36+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG
c.249+23_249+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG
 gnomAD v4
2g.32064271_32064272insGGGGGGCA2658519976SPASTc.415+25_415+26insGGGGGG (n.415+25_415+26insGGGGGG)
c.299+25_299+26insGGGGGG
c.285+25_285+26insGGGGGG
c.157+25_157+26insGGGGGG (n.157+25_157+26insGGGGGG)
c.291+25_291+26insGGGGGG
c.256+25_256+26insGGGGGG (n.256+25_256+26insGGGGGG)
c.36+25_36+26insGGGGGG
c.249+25_249+26insGGGGGG
 gnomAD v4
2g.32064271_32064272insGGGGGGGCA2658519980SPASTc.415+25_415+26insGGGGGGG (n.415+25_415+26insGGGGGGG)
c.299+25_299+26insGGGGGGG
c.285+25_285+26insGGGGGGG
c.157+25_157+26insGGGGGGG (n.157+25_157+26insGGGGGGG)
c.291+25_291+26insGGGGGGG
c.256+25_256+26insGGGGGGG (n.256+25_256+26insGGGGGGG)
c.36+25_36+26insGGGGGGG
c.249+25_249+26insGGGGGGG
 gnomAD v4
2g.32064271_32064272insGTGGGGGCA2749388913SPASTc.415+25_415+26insGTGGGGG (n.415+25_415+26insGTGGGGG)
c.299+25_299+26insGTGGGGG
c.285+25_285+26insGTGGGGG
c.157+25_157+26insGTGGGGG (n.157+25_157+26insGTGGGGG)
c.291+25_291+26insGTGGGGG
c.256+25_256+26insGTGGGGG (n.256+25_256+26insGTGGGGG)
c.36+25_36+26insGTGGGGG
c.249+25_249+26insGTGGGGG
2g.32064271_32064272insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGGCA2658519978SPASTc.415+25_415+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG (n.415+25_415+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG)
c.299+25_299+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG
c.285+25_285+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG
c.157+25_157+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG (n.157+25_157+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG)
c.291+25_291+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG
c.256+25_256+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG (n.256+25_256+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG)
c.36+25_36+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG
c.249+25_249+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG
 gnomAD v4
2g.32064271dupCA2658519977SPASTc.415+25dup (n.415+25dup)
c.299+25dup
c.285+25dup
c.157+25dup (n.157+25dup)
c.291+25dup
c.256+25dup (n.256+25dup)
c.36+25dup
c.249+25dup
 gnomAD v4
2g.32064271delCA2658519975SPASTc.415+25del (n.415+25del)
c.299+25del
c.285+25del
c.157+25del (n.157+25del)
c.291+25del
c.256+25del (n.256+25del)
c.36+25del
c.249+25del
 gnomAD v4
2g.32064269_32064271delCA2658519974SPASTc.415+23_415+25del (n.415+23_415+25del)
c.299+23_299+25del
c.285+23_285+25del
c.157+23_157+25del (n.157+23_157+25del)
c.291+23_291+25del
c.256+23_256+25del (n.256+23_256+25del)
c.36+23_36+25del
c.249+23_249+25del
 gnomAD v4
2g.32064274_32064275insGGGGGGGGGGCGGCA531769490SPASTc.415+28_415+29insGGGGGGGGGGCGG (n.415+28_415+29insGGGGGGGGGGCGG)
c.299+28_299+29insGGGGGGGGGGCGG
c.285+28_285+29insGGGGGGGGGGCGG
c.157+28_157+29insGGGGGGGGGGCGG (n.157+28_157+29insGGGGGGGGGGCGG)
c.291+28_291+29insGGGGGGGGGGCGG
c.256+28_256+29insGGGGGGGGGGCGG (n.256+28_256+29insGGGGGGGGGGCGG)
c.36+28_36+29insGGGGGGGGGGCGG
c.249+28_249+29insGGGGGGGGGGCGG
 gnomAD v2 gnomAD v4
2g.32064269_32064274delCA2658519971SPASTc.415+23_415+28del (n.415+23_415+28del)
c.299+23_299+28del
c.285+23_285+28del
c.157+23_157+28del (n.157+23_157+28del)
c.291+23_291+28del
c.256+23_256+28del (n.256+23_256+28del)
c.36+23_36+28del
c.249+23_249+28del
 gnomAD v4
2g.32064268G>ACA2658519983SPASTc.415+22G>A (n.415+22G>A)
c.299+22G>A
c.285+22G>A
c.157+22G>A (n.157+22G>A)
c.291+22G>A
c.256+22G>A (n.256+22G>A)
c.36+22G>A
c.249+22G>A
 gnomAD v4
2g.32064268G>CCA2658519981SPASTc.415+22G>C (n.415+22G>C)
c.299+22G>C
c.285+22G>C
c.157+22G>C (n.157+22G>C)
c.291+22G>C
c.256+22G>C (n.256+22G>C)
c.36+22G>C
c.249+22G>C
 gnomAD v4
2g.32064268G>TCA2658519982SPASTc.415+22G>T (n.415+22G>T)
c.299+22G>T
c.285+22G>T
c.157+22G>T (n.157+22G>T)
c.291+22G>T
c.256+22G>T (n.256+22G>T)
c.36+22G>T
c.249+22G>T
 gnomAD v4
2g.32064271_32064284delCA2658519985SPASTc.415+25_415+38del (n.415+25_415+38del)
c.299+25_299+38del
c.285+25_285+38del
c.157+25_157+38del (n.157+25_157+38del)
c.291+25_291+38del
c.256+25_256+38del (n.256+25_256+38del)
c.36+25_36+38del
c.249+25_249+38del
 gnomAD v4
2g.32064272_32064299delCA2658519984SPASTc.415+26_415+53del (n.415+26_415+53del)
c.299+26_299+53del
c.285+26_285+53del
c.157+26_157+53del (n.157+26_157+53del)
c.291+26_291+53del
c.256+26_256+53del (n.256+26_256+53del)
c.36+26_36+53del
c.249+26_249+53del
 gnomAD v4
2g.32064269G>ACA531769491SPASTc.415+23G>A (n.415+23G>A)
c.299+23G>A
c.285+23G>A
c.157+23G>A (n.157+23G>A)
c.291+23G>A
c.256+23G>A (n.256+23G>A)
c.36+23G>A
c.249+23G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064269G>CCA2658519987SPASTc.415+23G>C (n.415+23G>C)
c.299+23G>C
c.285+23G>C
c.157+23G>C (n.157+23G>C)
c.291+23G>C
c.256+23G>C (n.256+23G>C)
c.36+23G>C
c.249+23G>C
 gnomAD v4
2g.32064269G=CA1242461851SPASTc.415+23G= (n.415+23G=)
c.299+23G=
c.285+23G=
c.157+23G= (n.157+23G=)
c.291+23G=
c.256+23G= (n.256+23G=)
c.36+23G=
c.249+23G=
2g.32064269G>TCA2658519988SPASTc.415+23G>T (n.415+23G>T)
c.299+23G>T
c.285+23G>T
c.157+23G>T (n.157+23G>T)
c.291+23G>T
c.256+23G>T (n.256+23G>T)
c.36+23G>T
c.249+23G>T
 gnomAD v4
2g.32064272_32064298delCA2658519986SPASTc.415+26_415+52del (n.415+26_415+52del)
c.299+26_299+52del
c.285+26_285+52del
c.157+26_157+52del (n.157+26_157+52del)
c.291+26_291+52del
c.256+26_256+52del (n.256+26_256+52del)
c.36+26_36+52del
c.249+26_249+52del
 gnomAD v4
2g.32064270G>ACA2658519990SPASTc.415+24G>A (n.415+24G>A)
c.299+24G>A
c.285+24G>A
c.157+24G>A (n.157+24G>A)
c.291+24G>A
c.256+24G>A (n.256+24G>A)
c.36+24G>A
c.249+24G>A
 gnomAD v4
2g.32064270G>TCA2658519989SPASTc.415+24G>T (n.415+24G>T)
c.299+24G>T
c.285+24G>T
c.157+24G>T (n.157+24G>T)
c.291+24G>T
c.256+24G>T (n.256+24G>T)
c.36+24G>T
c.249+24G>T
 gnomAD v4
2g.32064274_32064279dupCA767739279SPASTc.415+28_415+33dup (n.415+28_415+33dup)
c.299+28_299+33dup
c.285+28_285+33dup
c.157+28_157+33dup (n.157+28_157+33dup)
c.291+28_291+33dup
c.256+28_256+33dup (n.256+28_256+33dup)
c.36+28_36+33dup
c.249+28_249+33dup
 dbSNP gnomAD v4
2g.32064277_32064279delCA2576929949SPASTc.415+31_415+33del (n.415+31_415+33del)
c.299+31_299+33del
c.285+31_285+33del
c.157+31_157+33del (n.157+31_157+33del)
c.291+31_291+33del
c.256+31_256+33del (n.256+31_256+33del)
c.36+31_36+33del
c.249+31_249+33del
 gnomAD v4
2g.32064274_32064279delCA2576929948SPASTc.415+28_415+33del (n.415+28_415+33del)
c.299+28_299+33del
c.285+28_285+33del
c.157+28_157+33del (n.157+28_157+33del)
c.291+28_291+33del
c.256+28_256+33del (n.256+28_256+33del)
c.36+28_36+33del
c.249+28_249+33del
 gnomAD v4
2g.32064272_32064297delCA2658519991SPASTc.415+26_415+51del (n.415+26_415+51del)
c.299+26_299+51del
c.285+26_285+51del
c.157+26_157+51del (n.157+26_157+51del)
c.291+26_291+51del
c.256+26_256+51del (n.256+26_256+51del)
c.36+26_36+51del
c.249+26_249+51del
 gnomAD v4
2g.32064271G>ACA45201415SPASTc.415+25G>A (n.415+25G>A)
c.299+25G>A
c.285+25G>A
c.157+25G>A (n.157+25G>A)
c.291+25G>A
c.256+25G>A (n.256+25G>A)
c.36+25G>A
c.249+25G>A
 dbSNP gnomAD v4
2g.32064271G>CCA2658519997SPASTc.415+25G>C (n.415+25G>C)
c.299+25G>C
c.285+25G>C
c.157+25G>C (n.157+25G>C)
c.291+25G>C
c.256+25G>C (n.256+25G>C)
c.36+25G>C
c.249+25G>C
 gnomAD v4
2g.32064271G=CA1242461852SPASTc.415+25G= (n.415+25G=)
c.299+25G=
c.285+25G=
c.157+25G= (n.157+25G=)
c.291+25G=
c.256+25G= (n.256+25G=)
c.36+25G=
c.249+25G=
2g.32064271G>TCA2658519998SPASTc.415+25G>T (n.415+25G>T)
c.299+25G>T
c.285+25G>T
c.157+25G>T (n.157+25G>T)
c.291+25G>T
c.256+25G>T (n.256+25G>T)
c.36+25G>T
c.249+25G>T
 gnomAD v4
2g.32064272_32064273delCA2658519992SPASTc.415+26_415+27del (n.415+26_415+27del)
c.299+26_299+27del
c.285+26_285+27del
c.157+26_157+27del (n.157+26_157+27del)
c.291+26_291+27del
c.256+26_256+27del (n.256+26_256+27del)
c.36+26_36+27del
c.249+26_249+27del
 gnomAD v4
2g.32064272_32064276delCA2658519993SPASTc.415+26_415+30del (n.415+26_415+30del)
c.299+26_299+30del
c.285+26_285+30del
c.157+26_157+30del (n.157+26_157+30del)
c.291+26_291+30del
c.256+26_256+30del (n.256+26_256+30del)
c.36+26_36+30del
c.249+26_249+30del
 gnomAD v4
2g.32064272_32064282delCA2658519994SPASTc.415+26_415+36del (n.415+26_415+36del)
c.299+26_299+36del
c.285+26_285+36del
c.157+26_157+36del (n.157+26_157+36del)
c.291+26_291+36del
c.256+26_256+36del (n.256+26_256+36del)
c.36+26_36+36del
c.249+26_249+36del
 gnomAD v4
2g.32064272_32064293delCA2658519995SPASTc.415+26_415+47del (n.415+26_415+47del)
c.299+26_299+47del
c.285+26_285+47del
c.157+26_157+47del (n.157+26_157+47del)
c.291+26_291+47del
c.256+26_256+47del (n.256+26_256+47del)
c.36+26_36+47del
c.249+26_249+47del
 gnomAD v4
2g.32064271_32064314delCA2658519996SPASTc.415+25_415+68del (n.415+25_415+68del)
c.299+25_299+68del
c.285+25_285+68del
c.157+25_157+68del (n.157+25_157+68del)
c.291+25_291+68del
c.256+25_256+68del (n.256+25_256+68del)
c.36+25_36+68del
c.249+25_249+68del
 gnomAD v4
2g.32064272delCA2658520007SPASTc.415+26del (n.415+26del)
c.299+26del
c.285+26del
c.157+26del (n.157+26del)
c.291+26del
c.256+26del (n.256+26del)
c.36+26del
c.249+26del
 gnomAD v4
2g.32064272C>ACA2658520001SPASTc.415+26C>A (n.415+26C>A)
c.299+26C>A
c.285+26C>A
c.157+26C>A (n.157+26C>A)
c.291+26C>A
c.256+26C>A (n.256+26C>A)
c.36+26C>A
c.249+26C>A
 gnomAD v4
2g.32064272C>GCA1028990169SPASTc.415+26C>G (n.415+26C>G)
c.299+26C>G
c.285+26C>G
c.157+26C>G (n.157+26C>G)
c.291+26C>G
c.256+26C>G (n.256+26C>G)
c.36+26C>G
c.249+26C>G
 dbSNP gnomAD v3 gnomAD v4
2g.32064272C>TCA2658520000SPASTc.415+26C>T (n.415+26C>T)
c.299+26C>T
c.285+26C>T
c.157+26C>T (n.157+26C>T)
c.291+26C>T
c.256+26C>T (n.256+26C>T)
c.36+26C>T
c.249+26C>T
 gnomAD v4
2g.32064272_32064278delCA2658520006SPASTc.415+26_415+32del (n.415+26_415+32del)
c.299+26_299+32del
c.285+26_285+32del
c.157+26_157+32del (n.157+26_157+32del)
c.291+26_291+32del
c.256+26_256+32del (n.256+26_256+32del)
c.36+26_36+32del
c.249+26_249+32del
 gnomAD v4
2g.32064279_32064280insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCGCA2658520008SPASTc.415+33_415+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG (n.415+33_415+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG)
c.299+33_299+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG
c.285+33_285+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG
c.157+33_157+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG (n.157+33_157+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG)
c.291+33_291+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG
c.256+33_256+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG (n.256+33_256+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG)
c.36+33_36+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG
c.249+33_249+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG
 gnomAD v4
2g.32064272_32064281delCA2658520005SPASTc.415+26_415+35del (n.415+26_415+35del)
c.299+26_299+35del
c.285+26_285+35del
c.157+26_157+35del (n.157+26_157+35del)
c.291+26_291+35del
c.256+26_256+35del (n.256+26_256+35del)
c.36+26_36+35del
c.249+26_249+35del
 gnomAD v4
2g.32064272_32064292delCA2658520004SPASTc.415+26_415+46del (n.415+26_415+46del)
c.299+26_299+46del
c.285+26_285+46del
c.157+26_157+46del (n.157+26_157+46del)
c.291+26_291+46del
c.256+26_256+46del (n.256+26_256+46del)
c.36+26_36+46del
c.249+26_249+46del
 gnomAD v4
2g.32064272_32064295delCA2658520003SPASTc.415+26_415+49del (n.415+26_415+49del)
c.299+26_299+49del
c.285+26_285+49del
c.157+26_157+49del (n.157+26_157+49del)
c.291+26_291+49del
c.256+26_256+49del (n.256+26_256+49del)
c.36+26_36+49del
c.249+26_249+49del
 gnomAD v4
2g.32064273_32064333delCA2658519999SPASTc.415+27_415+87del (n.415+27_415+87del)
c.299+27_299+87del
c.285+27_285+87del
c.157+27_157+87del (n.157+27_157+87del)
c.291+27_291+87del
c.256+27_256+87del (n.256+27_256+87del)
c.36+27_36+87del
c.249+27_249+87del
 gnomAD v4
2g.32064275_32064348delCA2658520002SPASTc.415+29_415+102del (n.415+29_415+102del)
c.299+29_299+102del
c.285+29_285+102del
c.157+29_157+102del (n.157+29_157+102del)
c.291+29_291+102del
c.256+29_256+102del (n.256+29_256+102del)
c.36+29_36+102del
c.249+29_249+102del
 gnomAD v4

Number of alleles fetched