Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32063148_32067182delCA339677 ClinVar
2g.32063720_32066025delCA325517SPASTc.-112_446del
c.-112_415+1779del
ClinVar
2g.32063873C>ACA425580707SPASTc.42C>A (p.Gly14=)
gnomAD v4
2g.32063873C=CA1242461585SPASTc.42C= (p.Gly14=)
2g.32063873C>GCA425580708SPASTc.42C>G (p.Gly14=)
2g.32063873C>TCA425580709SPASTc.42C>T (p.Gly14=)
dbSNP gnomAD v2 gnomAD v4
2g.32063874G>ACA346601252SPASTc.43G>A (p.Gly15Ser)
dbSNP gnomAD v3 gnomAD v4
2g.32063874G>CCA346601253SPASTc.43G>C (p.Gly15Arg)
dbSNP gnomAD v2 gnomAD v4
2g.32063874G=CA1242461586SPASTc.43G= (p.Gly15=)
2g.32063874G>TCA346601254SPASTc.43G>T (p.Gly15Cys)
gnomAD v4
2g.32063875G>ACA346601257SPASTc.44G>A (p.Gly15Asp)
dbSNP gnomAD v2 gnomAD v4
2g.32063875G>CCA346601256SPASTc.44G>C (p.Gly15Ala)
2g.32063875G=CA1242461587SPASTc.44G= (p.Gly15=)
2g.32063875G>TCA346601255SPASTc.44G>T (p.Gly15Val)
gnomAD v4
2g.32063876C>ACA425626852SPASTc.45C>A (p.Gly15=)
gnomAD v4
2g.32063876C=CA1242461588SPASTc.45C= (p.Gly15=)
2g.32063876C>GCA425626853SPASTc.45C>G (p.Gly15=)
2g.32063876C>TCA425626854SPASTc.45C>T (p.Gly15=)
dbSNP gnomAD v2 gnomAD v4
2g.32063877G>ACA1600464SPASTc.46G>A (p.Ala16Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063877G>CCA1600463SPASTc.46G>C (p.Ala16Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063877G=CA1242461589SPASTc.46G= (p.Ala16=)
2g.32063877G>TCA346601258SPASTc.46G>T (p.Ala16Ser)
gnomAD v4
2g.32063878C>ACA346601259SPASTc.47C>A (p.Ala16Asp)
gnomAD v4
2g.32063878C=CA1242461590SPASTc.47C= (p.Ala16=)
2g.32063878C>GCA346601260SPASTc.47C>G (p.Ala16Gly)
gnomAD v4
2g.32063878C>TCA1600465SPASTc.47C>T (p.Ala16Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063879C>ACA425626874SPASTc.48C>A (p.Ala16=)
gnomAD v4
2g.32063879C>GCA425626875SPASTc.48C>G (p.Ala16=)
2g.32063879C>TCA425626872SPASTc.48C>T (p.Ala16=)
gnomAD v4
2g.32063879_32063880insGGGAAGCA2503527320SPASTc.48_49insGGGAAG (p.Ala16_Ser17insGlyLys)
2g.32063880A=CA1242461591SPASTc.49A= (p.Ser17=)
2g.32063880A>CCA1600466SPASTc.49A>C (p.Ser17Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063880A>GCA346601261SPASTc.49A>G (p.Ser17Gly)
gnomAD v4
2g.32063880A>TCA346601262SPASTc.49A>T (p.Ser17Cys)
2g.32063881G>ACA346601263SPASTc.50G>A (p.Ser17Asn)
dbSNP gnomAD v4
2g.32063881G>CCA346601264SPASTc.50G>C (p.Ser17Thr)
2g.32063881G=CA1242461592SPASTc.50G= (p.Ser17=)
2g.32063881G>TCA346601265SPASTc.50G>T (p.Ser17Ile)
gnomAD v4
2g.32063882C>ACA346601266SPASTc.51C>A (p.Ser17Arg)
gnomAD v4
2g.32063882C=CA1242461593SPASTc.51C= (p.Ser17=)
2g.32063882C>GCA346601267SPASTc.51C>G (p.Ser17Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063882C>TCA425626884SPASTc.51C>T (p.Ser17=)
gnomAD v4
2g.32063883A>CCA346601268SPASTc.52A>C (p.Asn18His)
2g.32063883A>GCA346601269SPASTc.52A>G (p.Asn18Asp)
2g.32063883A>TCA346601270SPASTc.52A>T (p.Asn18Tyr)
2g.32063884A=CA1242461594SPASTc.53A= (p.Asn18=)
2g.32063884A>CCA346601271SPASTc.53A>C (p.Asn18Thr)
dbSNP
2g.32063884A>GCA346601272SPASTc.53A>G (p.Asn18Ser)
2g.32063884A>TCA346601273SPASTc.53A>T (p.Asn18Ile)
dbSNP gnomAD v4
2g.32063885C>ACA346601274SPASTc.54C>A (p.Asn18Lys)
gnomAD v4
2g.32063885C=CA1242461595SPASTc.54C= (p.Asn18=)
2g.32063885C>GCA346601275SPASTc.54C>G (p.Asn18Lys)
2g.32063885C>TCA425626901SPASTc.54C>T (p.Asn18=)
dbSNP gnomAD v2 gnomAD v4
2g.32063887delCA2658519893SPASTc.56del (p.Pro19ArgfsTer?)
gnomAD v4
2g.32063885_32063888delinsCCCGCA1242461596SPASTc.54_57delinsCCCG (p.Asn18=)
2g.32063886C>ACA1600468SPASTc.55C>A (p.Pro19Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063886C=CA1242461597SPASTc.55C= (p.Pro19=)
2g.32063886C>GCA346601276SPASTc.55C>G (p.Pro19Ala)
ClinVar
2g.32063886C>TCA10615118SPASTc.55C>T (p.Pro19Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32063886_32063888delCA1600467SPASTc.55_57del (p.Pro19del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063889_32063906dupCA767797197SPASTc.58_75dup (p.Pro25_Pro26insValProProArgProPro)
dbSNP gnomAD v3 gnomAD v4
2g.32063887C>ACA346601279SPASTc.56C>A (p.Pro19Gln)
gnomAD v4
2g.32063887C=CA1242461598SPASTc.56C= (p.Pro19=)
2g.32063887C>GCA346601277SPASTc.56C>G (p.Pro19Arg)
dbSNP
2g.32063887C>TCA346601278SPASTc.56C>T (p.Pro19Leu)
dbSNP gnomAD v4
2g.32063888G>ACA425626913SPASTc.57G>A (p.Pro19=)
gnomAD v4
2g.32063888G>CCA1600469SPASTc.57G>C (p.Pro19=)
ClinVar dbSNP ExAC gnomAD v4
2g.32063888G=CA1242461599SPASTc.57G= (p.Pro19=)
2g.32063888G>TCA425626927SPASTc.57G>T (p.Pro19=)
gnomAD v4
2g.32063889G>ACA346601280SPASTc.58G>A (p.Val20Met)
gnomAD v4
2g.32063889G>CCA45201384SPASTc.58G>C (p.Val20Leu)
dbSNP gnomAD v4
2g.32063889G=CA1242461600SPASTc.58G= (p.Val20=)
2g.32063889G>TCA346601281SPASTc.58G>T (p.Val20Leu)
gnomAD v4
2g.32063890T>ACA346601282SPASTc.59T>A (p.Val20Glu)
2g.32063890T>CCA346601283SPASTc.59T>C (p.Val20Ala)
gnomAD v4
2g.32063890T>GCA346601284SPASTc.59T>G (p.Val20Gly)
2g.32063890_32063892delinsACA2580066368SPASTc.59_61delinsA (p.Val20AspfsTer27)
ClinVar
2g.32063891G>ACA1600470SPASTc.60G>A (p.Val20=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063891G>CCA425626935SPASTc.60G>C (p.Val20=)
2g.32063891G=CA1242461601SPASTc.60G= (p.Val20=)
2g.32063891G>TCA45201385SPASTc.60G>T (p.Val20=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063892C>ACA45201386SPASTc.61C>A (p.Pro21Thr)
dbSNP gnomAD v4
2g.32063892C=CA1242461602SPASTc.61C= (p.Pro21=)
2g.32063892C>GCA346601285SPASTc.61C>G (p.Pro21Ala)
2g.32063892C>TCA346601286SPASTc.61C>T (p.Pro21Ser)
2g.32063893C>ACA346601289SPASTc.62C>A (p.Pro21His)
gnomAD v4
2g.32063893C=CA1242461603SPASTc.62C= (p.Pro21=)
2g.32063893C>GCA346601288SPASTc.62C>G (p.Pro21Arg)
2g.32063893C>TCA346601287SPASTc.62C>T (p.Pro21Leu)
dbSNP gnomAD v3 gnomAD v4
2g.32063894T>ACA425626947SPASTc.63T>A (p.Pro21=)
gnomAD v4
2g.32063894T>CCA425626948SPASTc.63T>C (p.Pro21=)
dbSNP gnomAD v4
2g.32063894T>GCA425626954SPASTc.63T>G (p.Pro21=)
2g.32063894T=CA1242461604SPASTc.63T= (p.Pro21=)
2g.32063895C>ACA346601290SPASTc.64C>A (p.Pro22Thr)
gnomAD v4
2g.32063895C=CA1242461605SPASTc.64C= (p.Pro22=)
2g.32063895C>GCA1600472SPASTc.64C>G (p.Pro22Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063895C>TCA1600471SPASTc.64C>T (p.Pro22Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063897delCA2658519894SPASTc.66del (p.Arg23GlyfsTer?)
gnomAD v4
2g.32063896C>ACA346601291SPASTc.65C>A (p.Pro22His)
2g.32063896C>GCA346601292SPASTc.65C>G (p.Pro22Arg)
2g.32063896C>TCA346601293SPASTc.65C>T (p.Pro22Leu)
2g.32063898_32063916dupCA1242461606SPASTc.67_85dup (p.Leu29GlnfsTer25)
ClinVar dbSNP
2g.32063897C>ACA425626965SPASTc.66C>A (p.Pro22=)
gnomAD v4
2g.32063897C=CA1242461607SPASTc.66C= (p.Pro22=)
2g.32063897C>GCA425626967SPASTc.66C>G (p.Pro22=)
dbSNP gnomAD v4
2g.32063897C>TCA425626969SPASTc.66C>T (p.Pro22=)
dbSNP gnomAD v2 gnomAD v4
2g.32063898A>CCA425626972SPASTc.67A>C (p.Arg23=)
2g.32063898A>GCA346601294SPASTc.67A>G (p.Arg23Gly)
ClinVar gnomAD v4
2g.32063898A>TCA346601295SPASTc.67A>T (p.Arg23Trp)
2g.32063898_32063917delinsAGGCCTCCGCCCCCTTGCCTCA1242461608SPASTc.67_86delinsAGGCCTCCGCCCCCTTGCCT (p.Arg23=)
2g.32063899G>ACA1600473SPASTc.68G>A (p.Arg23Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063899G>CCA346601296SPASTc.68G>C (p.Arg23Thr)
gnomAD v4
2g.32063899G=CA1242461609SPASTc.68G= (p.Arg23=)
2g.32063899G>TCA346601297SPASTc.68G>T (p.Arg23Met)
gnomAD v4
2g.32063903_32063921dupCA2499215888SPASTc.72_90dup (p.Pro31SerfsTer23)
ClinVar dbSNP
2g.32063903_32063921delCA45201387SPASTc.72_90del (p.Pro27LeufsTer27)
dbSNP gnomAD v3 gnomAD v4
2g.32063900G>ACA425626991SPASTc.69G>A (p.Arg23=)
gnomAD v4
2g.32063900G>CCA346601298SPASTc.69G>C (p.Arg23Ser)
dbSNP
2g.32063900G=CA1242461610SPASTc.69G= (p.Arg23=)
2g.32063900G>TCA346601299SPASTc.69G>T (p.Arg23Ser)
2g.32063901C>ACA346601300SPASTc.70C>A (p.Pro24Thr)
gnomAD v4
2g.32063901C>GCA346601301SPASTc.70C>G (p.Pro24Ala)
2g.32063901C>TCA346601302SPASTc.70C>T (p.Pro24Ser)
ClinVar gnomAD v4
2g.32063910_32063957delCA2658519895SPASTc.79_126del (p.Pro27_Pro42del)
dbSNP gnomAD v4
2g.32063902C>ACA346601303SPASTc.71C>A (p.Pro24His)
gnomAD v4
2g.32063902C>GCA346601305SPASTc.71C>G (p.Pro24Arg)
2g.32063902C>TCA346601304SPASTc.71C>T (p.Pro24Leu)
2g.32063903T>ACA425627000SPASTc.72T>A (p.Pro24=)
gnomAD v4
2g.32063903T>CCA425627003SPASTc.72T>C (p.Pro24=)
dbSNP gnomAD v3 gnomAD v4
2g.32063903T>GCA425627005SPASTc.72T>G (p.Pro24=)
gnomAD v4
2g.32063903T=CA1242461611SPASTc.72T= (p.Pro24=)
2g.32063904C>ACA346601306SPASTc.73C>A (p.Pro25Thr)
2g.32063904C=CA1242461612SPASTc.73C= (p.Pro25=)
2g.32063904C>GCA346601307SPASTc.73C>G (p.Pro25Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063904C>TCA1600474SPASTc.73C>T (p.Pro25Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063905dupCA2497030247SPASTc.74dup (p.Pro26AlafsTer22)
dbSNP
2g.32063911_32063929dupCA2586968930SPASTc.80_98dup (p.Pro34LeufsTer20)
2g.32063905C>ACA346601308SPASTc.74C>A (p.Pro25Gln)
gnomAD v4
2g.32063905C=CA1242461613SPASTc.74C= (p.Pro25=)
2g.32063905C>GCA346601309SPASTc.74C>G (p.Pro25Arg)
2g.32063905C>TCA346601310SPASTc.74C>T (p.Pro25Leu)
dbSNP gnomAD v4
2g.32063906delCA2699033080SPASTc.75del (p.Pro27LeufsTer?)
dbSNP
2g.32063906G>ACA45201388SPASTc.75G>A (p.Pro25=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063906G>CCA425627030SPASTc.75G>C (p.Pro25=)
dbSNP
2g.32063906G=CA1242461614SPASTc.75G= (p.Pro25=)
2g.32063906G>TCA425627031SPASTc.75G>T (p.Pro25=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063907C>ACA346601311SPASTc.76C>A (p.Pro26Thr)
2g.32063907C=CA1242461615SPASTc.76C= (p.Pro26=)
2g.32063907C>GCA346601312SPASTc.76C>G (p.Pro26Ala)
dbSNP
2g.32063907C>TCA1600475SPASTc.76C>T (p.Pro26Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063911dupCA2586968931SPASTc.80dup (p.Cys28LeufsTer20)
dbSNP
2g.32063911delCA2658519896SPASTc.80del (p.Pro27LeufsTer?)
gnomAD v4
2g.32063908C>ACA346601315SPASTc.77C>A (p.Pro26His)
2g.32063908C>GCA346601314SPASTc.77C>G (p.Pro26Arg)
2g.32063908C>TCA346601313SPASTc.77C>T (p.Pro26Leu)
2g.32063909C>ACA1600477SPASTc.78C>A (p.Pro26=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063909C=CA1242461616SPASTc.78C= (p.Pro26=)
2g.32063909C>GCA425627045SPASTc.78C>G (p.Pro26=)
dbSNP
2g.32063909C>TCA1600476SPASTc.78C>T (p.Pro26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063910C>ACA346601316SPASTc.79C>A (p.Pro27Thr)
dbSNP gnomAD v2
2g.32063910C=CA1242461617SPASTc.79C= (p.Pro27=)
2g.32063910C>GCA346601317SPASTc.79C>G (p.Pro27Ala)
2g.32063910C>TCA346601318SPASTc.79C>T (p.Pro27Ser)
dbSNP
2g.32063911C>ACA346601319SPASTc.80C>A (p.Pro27His)
2g.32063911C=CA1242461618SPASTc.80C= (p.Pro27=)
2g.32063911C>GCA346601320SPASTc.80C>G (p.Pro27Arg)
gnomAD v4
2g.32063911C>TCA346601321SPASTc.80C>T (p.Pro27Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063912_32063915delCA2699033096SPASTc.81_84del (p.Cys28TrpfsTer?)
dbSNP
2g.32063911_32063912insGCA2699033104SPASTc.80_81insG (p.Cys28LeufsTer20)
dbSNP
2g.32063912T>ACA425627056SPASTc.81T>A (p.Pro27=)
dbSNP
2g.32063912T>CCA425627057SPASTc.81T>C (p.Pro27=)
dbSNP gnomAD v4
2g.32063912T>GCA425627058SPASTc.81T>G (p.Pro27=)
dbSNP
2g.32063912_32063914delCA2699033150SPASTc.81_83del (p.Cys28del)
dbSNP
2g.32063913T>ACA346601322SPASTc.82T>A (p.Cys28Ser)
2g.32063913T>CCA346601323SPASTc.82T>C (p.Cys28Arg)
2g.32063913T>GCA346601324SPASTc.82T>G (p.Cys28Gly)
dbSNP
2g.32063914G>ACA346601325SPASTc.83G>A (p.Cys28Tyr)
gnomAD v4
2g.32063914G>CCA346601326SPASTc.83G>C (p.Cys28Ser)
ClinVar dbSNP gnomAD v4
2g.32063914G=CA1242461619SPASTc.83G= (p.Cys28=)
2g.32063914G>TCA346601327SPASTc.83G>T (p.Cys28Phe)
gnomAD v4
2g.32063915C>ACA346601328SPASTc.84C>A (p.Cys28Ter)
2g.32063915C>GCA346601329SPASTc.84C>G (p.Cys28Trp)
dbSNP gnomAD v4
2g.32063915C>TCA425627070SPASTc.84C>T (p.Cys28=)
2g.32063916dupCA2586968932SPASTc.85dup (p.Leu29ProfsTer19)
2g.32063916C>ACA346601330SPASTc.85C>A (p.Leu29Met)
2g.32063916C=CA1242461620SPASTc.85C= (p.Leu29=)
2g.32063916C>GCA346601331SPASTc.85C>G (p.Leu29Val)
dbSNP gnomAD v4
2g.32063916C>TCA425627072SPASTc.85C>T (p.Leu29=)
dbSNP
2g.32063916_32063917insGCA2699033221SPASTc.85_86insG (p.Leu29ArgfsTer19)
dbSNP
2g.32063917T>ACA346601332SPASTc.86T>A (p.Leu29Gln)
dbSNP
2g.32063917T>CCA346601333SPASTc.86T>C (p.Leu29Pro)
dbSNP gnomAD v4
2g.32063917T>GCA346601334SPASTc.86T>G (p.Leu29Arg)
dbSNP
2g.32063917T=CA1242461621SPASTc.86T= (p.Leu29=)
2g.32063918G>ACA425627078SPASTc.87G>A (p.Leu29=)
ClinVar
2g.32063918G>CCA425627080SPASTc.87G>C (p.Leu29=)
2g.32063918G=CA1242461622SPASTc.87G= (p.Leu29=)
2g.32063918G>TCA425627083SPASTc.87G>T (p.Leu29=)
dbSNP gnomAD v4
2g.32063919G>ACA346601335SPASTc.88G>A (p.Ala30Thr)
2g.32063919G>CCA346601336SPASTc.88G>C (p.Ala30Pro)
2g.32063919G=CA1242461623SPASTc.88G= (p.Ala30=)
2g.32063919G>TCA346601337SPASTc.88G>T (p.Ala30Ser)
dbSNP gnomAD v3 gnomAD v4
2g.32063921_32063922insAGCCCA2586968933SPASTc.90_91insAGCC (p.Pro31SerfsTer18)
2g.32063920C>ACA346601338SPASTc.89C>A (p.Ala30Asp)
gnomAD v4
2g.32063920C=CA1242461624SPASTc.89C= (p.Ala30=)
2g.32063920C>GCA346601339SPASTc.89C>G (p.Ala30Gly)
dbSNP gnomAD v2 gnomAD v4
2g.32063920C>TCA1600478SPASTc.89C>T (p.Ala30Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063924dupCA1139656819SPASTc.93dup (p.Ala32ArgfsTer16)
ClinVar dbSNP gnomAD v4
2g.32063924delCA2576929931SPASTc.93del (p.Ala32ProfsTer28)
gnomAD v4
2g.32063920_32063921insGGGGCA2699033270SPASTc.89_90insGGGG (p.Pro31GlyfsTer18)
dbSNP
2g.32063921C>ACA425627088SPASTc.90C>A (p.Ala30=)
2g.32063921C=CA1242461626SPASTc.90C= (p.Ala30=)
2g.32063921C>GCA425627090SPASTc.90C>G (p.Ala30=)
dbSNP
2g.32063921C>TCA425627092SPASTc.90C>T (p.Ala30=)
gnomAD v4
2g.32063921_32063930delinsCCCCGCCCCTCA1242461625SPASTc.90_99delinsCCCCGCCCCT (p.Ala30=)
2g.32063922C>ACA346601341SPASTc.91C>A (p.Pro31Thr)
2g.32063922C>GCA346601342SPASTc.91C>G (p.Pro31Ala)
2g.32063922C>TCA346601340SPASTc.91C>T (p.Pro31Ser)
gnomAD v4
2g.32063928_32063936delCA1600479SPASTc.97_105del (p.Pro33_Ala35del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063923C>ACA346601345SPASTc.92C>A (p.Pro31His)
gnomAD v4
2g.32063923C>GCA346601343SPASTc.92C>G (p.Pro31Arg)
2g.32063923C>TCA346601344SPASTc.92C>T (p.Pro31Leu)
gnomAD v4
2g.32063924C>ACA1600480SPASTc.93C>A (p.Pro31=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063924C=CA1242461627SPASTc.93C= (p.Pro31=)
2g.32063924C>GCA425627104SPASTc.93C>G (p.Pro31=)
2g.32063924C>TCA425627106SPASTc.93C>T (p.Pro31=)
gnomAD v4
2g.32063925G>ACA346601346SPASTc.94G>A (p.Ala32Thr)
dbSNP gnomAD v3 gnomAD v4
2g.32063925G>CCA346601347SPASTc.94G>C (p.Ala32Pro)
dbSNP gnomAD v4
2g.32063925G=CA1242461628SPASTc.94G= (p.Ala32=)
2g.32063925G>TCA346601348SPASTc.94G>T (p.Ala32Ser)
2g.32063933_32063953dupCA531769477SPASTc.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063926C>ACA346601349SPASTc.95C>A (p.Ala32Asp)
2g.32063926C>GCA346601350SPASTc.95C>G (p.Ala32Gly)
2g.32063926C>TCA346601351SPASTc.95C>T (p.Ala32Val)
gnomAD v4
2g.32063927C>ACA425627118SPASTc.96C>A (p.Ala32=)
2g.32063927C=CA1242461629SPASTc.96C= (p.Ala32=)
2g.32063927C>GCA425627119SPASTc.96C>G (p.Ala32=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063927C>TCA1600481SPASTc.96C>T (p.Ala32=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063928C>ACA346601352SPASTc.97C>A (p.Pro33Thr)
gnomAD v4
2g.32063928C=CA1242461630SPASTc.97C= (p.Pro33=)
2g.32063928C>GCA346601353SPASTc.97C>G (p.Pro33Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063928C>TCA346601354SPASTc.97C>T (p.Pro33Ser)
ClinVar dbSNP gnomAD v4
2g.32063929C>ACA346601356SPASTc.98C>A (p.Pro33His)
2g.32063929C=CA1242461631SPASTc.98C= (p.Pro33=)
2g.32063929C>GCA346601355SPASTc.98C>G (p.Pro33Arg)
2g.32063929C>TCA1600482SPASTc.98C>T (p.Pro33Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063930T>ACA425627129SPASTc.99T>A (p.Pro33=)
ClinVar dbSNP gnomAD v4
2g.32063930T>CCA425627130SPASTc.99T>C (p.Pro33=)
dbSNP gnomAD v4
2g.32063930T>GCA425627131SPASTc.99T>G (p.Pro33=)
dbSNP
2g.32063930T=CA1242461632SPASTc.99T= (p.Pro33=)
2g.32063931C>ACA1600483SPASTc.100C>A (p.Pro34Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063931C=CA1242461633SPASTc.100C= (p.Pro34=)
2g.32063931C>GCA346601357SPASTc.100C>G (p.Pro34Ala)
gnomAD v4
2g.32063931C>TCA346601358SPASTc.100C>T (p.Pro34Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063932C>ACA346601359SPASTc.101C>A (p.Pro34His)
2g.32063932C=CA1242461634SPASTc.101C= (p.Pro34=)
2g.32063932C>GCA346601360SPASTc.101C>G (p.Pro34Arg)
2g.32063932C>TCA1600484SPASTc.101C>T (p.Pro34Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063933C>ACA425627140SPASTc.102C>A (p.Pro34=)
dbSNP gnomAD v2 gnomAD v4
2g.32063933C=CA1242461635SPASTc.102C= (p.Pro34=)
2g.32063933C>GCA425627138SPASTc.102C>G (p.Pro34=)
dbSNP
2g.32063933C>TCA425627137SPASTc.102C>T (p.Pro34=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063934G>ACA346601361SPASTc.103G>A (p.Ala35Thr)
gnomAD v4
2g.32063934G>CCA346601362SPASTc.103G>C (p.Ala35Pro)
dbSNP gnomAD v4
2g.32063934G=CA1242461636SPASTc.103G= (p.Ala35=)
2g.32063934G>TCA1600485SPASTc.103G>T (p.Ala35Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063935C>ACA346601363SPASTc.104C>A (p.Ala35Asp)
2g.32063935C>GCA346601364SPASTc.104C>G (p.Ala35Gly)
2g.32063935C>TCA346601365SPASTc.104C>T (p.Ala35Val)
gnomAD v4
2g.32063936C>ACA1600486SPASTc.105C>A (p.Ala35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063936C=CA1242461637SPASTc.105C= (p.Ala35=)
2g.32063936C>GCA425627149SPASTc.105C>G (p.Ala35=)
2g.32063936C>TCA425627150SPASTc.105C>T (p.Ala35=)
gnomAD v4
2g.32063937G>ACA346601367SPASTc.106G>A (p.Ala36Thr)
dbSNP gnomAD v3 gnomAD v4
2g.32063937G>CCA346601368SPASTc.106G>C (p.Ala36Pro)
dbSNP gnomAD v4
2g.32063937G=CA1242461638SPASTc.106G= (p.Ala36=)
2g.32063937G>TCA346601366SPASTc.106G>T (p.Ala36Ser)
dbSNP
2g.32063938C>ACA346601369SPASTc.107C>A (p.Ala36Asp)
2g.32063938C>GCA346601370SPASTc.107C>G (p.Ala36Gly)
2g.32063938C>TCA346601371SPASTc.107C>T (p.Ala36Val)
2g.32063941_32063954delCA2586968934SPASTc.110_123del (p.Gly37AlafsTer6)
2g.32063939C>ACA425627157SPASTc.108C>A (p.Ala36=)
dbSNP gnomAD v3 gnomAD v4
2g.32063939C=CA1242461639SPASTc.108C= (p.Ala36=)
2g.32063939C>GCA425627158SPASTc.108C>G (p.Ala36=)
gnomAD v4
2g.32063939C>TCA425627159SPASTc.108C>T (p.Ala36=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063940G>ACA346601372SPASTc.109G>A (p.Gly37Arg)
2g.32063940G>CCA1600487SPASTc.109G>C (p.Gly37Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063940G=CA1242461640SPASTc.109G= (p.Gly37=)
2g.32063940G>TCA346601373SPASTc.109G>T (p.Gly37Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063941G>ACA346601374SPASTc.110G>A (p.Gly37Glu)
gnomAD v4
2g.32063941G>CCA346601375SPASTc.110G>C (p.Gly37Ala)
2g.32063941G>TCA346601376SPASTc.110G>T (p.Gly37Val)
2g.32063942G>ACA425627165SPASTc.111G>A (p.Gly37=)
2g.32063942G>CCA425627168SPASTc.111G>C (p.Gly37=)
2g.32063942G>TCA425627169SPASTc.111G>T (p.Gly37=)
2g.32063943C>ACA346601377SPASTc.112C>A (p.Pro38Thr)
2g.32063943C=CA1242461641SPASTc.112C= (p.Pro38=)
2g.32063943C>GCA346601378SPASTc.112C>G (p.Pro38Ala)
dbSNP gnomAD v2 gnomAD v4
2g.32063943C>TCA346601379SPASTc.112C>T (p.Pro38Ser)
gnomAD v4
2g.32063944dupCA2582342360SPASTc.113dup (p.Ala39GlyfsTer9)
ClinVar
2g.32063945_32063949dupCA2576929932SPASTc.114_118dup (p.Pro40ArgfsTer22)
2g.32063944C>ACA346601381SPASTc.113C>A (p.Pro38Gln)
2g.32063944C=CA1242461642SPASTc.113C= (p.Pro38=)
2g.32063944C>GCA16610961SPASTc.113C>G (p.Pro38Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32063944C>TCA346601380SPASTc.113C>T (p.Pro38Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063945G>ACA425627179SPASTc.114G>A (p.Pro38=)
gnomAD v4
2g.32063945G>CCA425627181SPASTc.114G>C (p.Pro38=)
dbSNP gnomAD v4
2g.32063945G=CA1242461643SPASTc.114G= (p.Pro38=)
2g.32063945G>TCA1600488SPASTc.114G>T (p.Pro38=)
dbSNP ExAC gnomAD v2
2g.32063945_32063946insCCA2586968935SPASTc.114_115insC (p.Ala39ArgfsTer9)
2g.32063946G>ACA346601382SPASTc.115G>A (p.Ala39Thr)
dbSNP gnomAD v3 gnomAD v4
2g.32063946G>CCA346601383SPASTc.115G>C (p.Ala39Pro)
2g.32063946G=CA1242461644SPASTc.115G= (p.Ala39=)
2g.32063946G>TCA346601384SPASTc.115G>T (p.Ala39Ser)
2g.32063947C>ACA346601385SPASTc.116C>A (p.Ala39Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063947C=CA1242461645SPASTc.116C= (p.Ala39=)
2g.32063947C>GCA346601386SPASTc.116C>G (p.Ala39Gly)
2g.32063947C>TCA346601387SPASTc.116C>T (p.Ala39Val)
2g.32063948C>ACA425627184SPASTc.117C>A (p.Ala39=)
c.1C>A
dbSNP gnomAD v2 gnomAD v4
2g.32063948C=CA1242461646SPASTc.117C= (p.Ala39=)
c.1C=
2g.32063948C>GCA1600489SPASTc.117C>G (p.Ala39=)
c.1C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063948C>TCA425627186SPASTc.117C>T (p.Ala39=)
c.1C>T
gnomAD v4
2g.32063949C>ACA346601388SPASTc.118C>A (p.Pro40Thr)
c.2C>A
dbSNP
2g.32063949C=CA1242461647SPASTc.118C= (p.Pro40=)
c.2C=
2g.32063949C>GCA346601389SPASTc.118C>G (p.Pro40Ala)
c.2C>G
2g.32063949C>TCA1600490SPASTc.118C>T (p.Pro40Ser)
c.2C>T
dbSNP ExAC gnomAD v2
2g.32063950C>ACA346601391SPASTc.119C>A (p.Pro40His)
c.3C>A
2g.32063950C=CA1242461648SPASTc.119C= (p.Pro40=)
c.3C=
2g.32063950C>GCA346601392SPASTc.119C>G (p.Pro40Arg)
c.3C>G
2g.32063950C>TCA346601390SPASTc.119C>T (p.Pro40Leu)
c.3C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063951T>ACA1600491SPASTc.120T>A (p.Pro40=)
c.4T>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063951T>CCA425627190SPASTc.120T>C (p.Pro40=)
c.4T>C
gnomAD v4
2g.32063951T>GCA425627191SPASTc.120T>G (p.Pro40=)
c.4T>G
2g.32063951T=CA1242461649SPASTc.120T= (p.Pro40=)
c.4T=
2g.32063951_32063952delinsAACA2740092819SPASTc.120_121delinsAA (p.Pro41Thr)
c.4_5delinsAA
ClinVar
2g.32063952C>ACA1600492SPASTc.121C>A (p.Pro41Thr)
c.5C>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063952C=CA1242461650SPASTc.121C= (p.Pro41=)
c.5C=
2g.32063952C>GCA45201389SPASTc.121C>G (p.Pro41Ala)
c.5C>G
dbSNP gnomAD v2 gnomAD v4
2g.32063952C>TCA346601393SPASTc.121C>T (p.Pro41Ser)
c.5C>T
gnomAD v4
2g.32063953C>ACA346601394SPASTc.122C>A (p.Pro41Gln)
c.6C>A
2g.32063953C=CA1242461651SPASTc.122C= (p.Pro41=)
c.6C=
2g.32063953C>GCA346601395SPASTc.122C>G (p.Pro41Arg)
c.6C>G
gnomAD v4
2g.32063953C>TCA1600493SPASTc.122C>T (p.Pro41Leu)
c.6C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063954G>ACA45201390SPASTc.123G>A (p.Pro41=)
c.7G>A
dbSNP gnomAD v2 gnomAD v4
2g.32063954G>CCA425627194SPASTc.123G>C (p.Pro41=)
c.7G>C
gnomAD v4
2g.32063954G=CA1242461652SPASTc.123G= (p.Pro41=)
c.7G=
2g.32063954G>TCA425627193SPASTc.123G>T (p.Pro41=)
c.7G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063955C>ACA1600494SPASTc.124C>A (p.Pro42Thr)
c.8C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063955C=CA1242461653SPASTc.124C= (p.Pro42=)
c.8C=
2g.32063955C>GCA346601396SPASTc.124C>G (p.Pro42Ala)
c.8C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32063955C>TCA346601397SPASTc.124C>T (p.Pro42Ser)
c.8C>T
gnomAD v4
2g.32063956C>ACA346601398SPASTc.125C>A (p.Pro42His)
c.9C>A
c.1C>A
dbSNP gnomAD v2
2g.32063956C=CA1242461654SPASTc.125C= (p.Pro42=)
c.9C=
c.1C=
2g.32063956C>GCA346601399SPASTc.125C>G (p.Pro42Arg)
c.9C>G
c.1C>G
2g.32063956C>TCA346601400SPASTc.125C>T (p.Pro42Leu)
c.9C>T
c.1C>T
gnomAD v4
2g.32063957C>ACA425627201SPASTc.126C>A (p.Pro42=)
c.10C>A
c.2C>A
dbSNP gnomAD v2 gnomAD v4
2g.32063957C=CA1242461655SPASTc.126C= (p.Pro42=)
c.10C=
c.2C=
2g.32063957C>GCA1600495SPASTc.126C>G (p.Pro42=)
c.10C>G
c.2C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063957C>TCA1600496SPASTc.126C>T (p.Pro42=)
c.10C>T
c.2C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063958G>ACA346601401SPASTc.127G>A (p.Glu43Lys)
c.11G>A
c.3G>A
2g.32063958G>CCA1600497SPASTc.127G>C (p.Glu43Gln)
c.11G>C
c.3G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063958G=CA1242461656SPASTc.127G= (p.Glu43=)
c.11G=
c.3G=
2g.32063958G>TCA16610962SPASTc.127G>T (p.Glu43Ter)
c.11G>T
c.3G>T
ClinVar dbSNP
2g.32063959A=CA1242461657SPASTc.128A= (p.Glu43=)
c.12A=
c.4A=
2g.32063959A>CCA346601402SPASTc.128A>C (p.Glu43Ala)
c.12A>C
c.4A>C
gnomAD v4
2g.32063959A>GCA346601403SPASTc.128A>G (p.Glu43Gly)
c.12A>G
c.4A>G
dbSNP gnomAD v2 gnomAD v4
2g.32063959A>TCA346601404SPASTc.128A>T (p.Glu43Val)
c.12A>T
c.4A>T
gnomAD v4
2g.32063960G>ACA425627210SPASTc.129G>A (p.Glu43=)
c.13G>A
c.5G>A
ClinVar COSMIC
2g.32063960G>CCA1600498SPASTc.129G>C (p.Glu43Asp)
c.13G>C
c.5G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063960G=CA1242461658SPASTc.129G= (p.Glu43=)
c.13G=
c.5G=
2g.32063960G>TCA346601405SPASTc.129G>T (p.Glu43Asp)
c.13G>T
c.5G>T
2g.32063961T>ACA346601406SPASTc.130T>A (p.Ser44Thr)
c.14T>A
c.6T>A
2g.32063961T>CCA346601407SPASTc.130T>C (p.Ser44Pro)
c.14T>C
c.6T>C
dbSNP gnomAD v2 gnomAD v4
2g.32063961T>GCA346601408SPASTc.130T>G (p.Ser44Ala)
c.14T>G
c.6T>G
2g.32063961T=CA1242461659SPASTc.130T= (p.Ser44=)
c.14T=
c.6T=
2g.32063962C>ACA346601409SPASTc.131C>A (p.Ser44Ter)
c.15C>A
c.1C>A
c.7C>A
dbSNP gnomAD v2 gnomAD v4
2g.32063962C=CA1242461660SPASTc.131C= (p.Ser44=)
c.15C=
c.1C=
c.7C=
2g.32063962C>GCA346601410SPASTc.131C>G (p.Ser44Trp)
c.15C>G
c.1C>G
c.7C>G
2g.32063962C>TCA117669SPASTc.131C>T (p.Ser44Leu)
c.15C>T
c.1C>T
c.7C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063963G>ACA425627217SPASTc.132G>A (p.Ser44=)
c.16G>A
c.2G>A
c.8G>A
2g.32063963G>CCA425627218SPASTc.132G>C (p.Ser44=)
c.16G>C
c.2G>C
c.8G>C
2g.32063963G=CA1242461661SPASTc.132G= (p.Ser44=)
c.16G=
c.2G=
c.8G=
2g.32063963G>TCA425627220SPASTc.132G>T (p.Ser44=)
c.16G>T
c.2G>T
c.8G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32063964C>ACA346601415SPASTc.133C>A (p.Pro45Thr)
c.17C>A
c.3C>A
c.9C>A
2g.32063964C=CA1242461662SPASTc.133C= (p.Pro45=)
c.17C=
c.3C=
c.9C=
2g.32063964C>GCA346601414SPASTc.133C>G (p.Pro45Ala)
c.17C>G
c.3C>G
c.9C>G
2g.32063964C>TCA346601412SPASTc.133C>T (p.Pro45Ser)
c.17C>T
c.3C>T
c.9C>T
dbSNP gnomAD v3 gnomAD v4
2g.32063965C>ACA117671SPASTc.134C>A (p.Pro45Gln)
c.18C>A
c.4C>A
c.10C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063965C=CA1242461663SPASTc.134C= (p.Pro45=)
c.18C=
c.4C=
c.10C=
2g.32063965C>GCA346601417SPASTc.134C>G (p.Pro45Arg)
c.18C>G
c.4C>G
c.10C>G
2g.32063965C>TCA346601419SPASTc.134C>T (p.Pro45Leu)
c.18C>T
c.4C>T
c.10C>T
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

Number of alleles fetched