Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32063148_32067182delCA339677 ClinVar
2g.32063720_32066025delCA325517SPASTc.-112_446del
c.-112_415+1779del
ClinVar
2g.32063848delCA2658518983SPASTc.17del (p.Gly6AspfsTer?)
gnomAD v4
2g.32063848G>ACA1600453SPASTc.17G>A (p.Gly6Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063848G>CCA346601202SPASTc.17G>C (p.Gly6Ala)
2g.32063848G=CA1242461571SPASTc.17G= (p.Gly6=)
2g.32063848G>TCA346601203SPASTc.17G>T (p.Gly6Val)
gnomAD v4
2g.32063849A>CCA425580693SPASTc.18A>C (p.Gly6=)
2g.32063849A>GCA425580694SPASTc.18A>G (p.Gly6=)
gnomAD v4
2g.32063849A>TCA425580695SPASTc.18A>T (p.Gly6=)
2g.32063850C>ACA1600454SPASTc.19C>A (p.Arg7=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063850C=CA1242461572SPASTc.19C= (p.Arg7=)
2g.32063850C>GCA346601204SPASTc.19C>G (p.Arg7Gly)
2g.32063850C>TCA346601205SPASTc.19C>T (p.Arg7Ter)
gnomAD v4
2g.32063851G>ACA346601206SPASTc.20G>A (p.Arg7Gln)
gnomAD v4
2g.32063851G>CCA1600456SPASTc.20G>C (p.Arg7Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063851G=CA1242461573SPASTc.20G= (p.Arg7=)
2g.32063851G>TCA1600455SPASTc.20G>T (p.Arg7Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063852A=CA1242461574SPASTc.21A= (p.Arg7=)
2g.32063852A>CCA425580696SPASTc.21A>C (p.Arg7=)
2g.32063852A>GCA425580697SPASTc.21A>G (p.Arg7=)
2g.32063852A>TCA1600457SPASTc.21A>T (p.Arg7=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063853G>ACA346601208SPASTc.22G>A (p.Gly8Arg)
dbSNP gnomAD v2 gnomAD v4
2g.32063853G>CCA45201383SPASTc.22G>C (p.Gly8Arg)
dbSNP gnomAD v3 gnomAD v4
2g.32063853G=CA1242461575SPASTc.22G= (p.Gly8=)
2g.32063853G>TCA346601207SPASTc.22G>T (p.Gly8Trp)
gnomAD v4
2g.32063854G>ACA346601209SPASTc.23G>A (p.Gly8Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32063854G>CCA346601210SPASTc.23G>C (p.Gly8Ala)
2g.32063854G=CA1242461576SPASTc.23G= (p.Gly8=)
2g.32063854G>TCA346601211SPASTc.23G>T (p.Gly8Val)
2g.32063855G>ACA1600458SPASTc.24G>A (p.Gly8=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063855G>CCA425580698SPASTc.24G>C (p.Gly8=)
gnomAD v4
2g.32063855G=CA1242461577SPASTc.24G= (p.Gly8=)
2g.32063855G>TCA425580699SPASTc.24G>T (p.Gly8=)
gnomAD v4
2g.32063861_32063863delCA2658519892SPASTc.30_32del (p.Lys11del)
gnomAD v4
2g.32063856A>CCA346601212SPASTc.25A>C (p.Lys9Gln)
2g.32063856A>GCA346601213SPASTc.25A>G (p.Lys9Glu)
2g.32063856A>TCA346601214SPASTc.25A>T (p.Lys9Ter)
2g.32063857A=CA1242461578SPASTc.26A= (p.Lys9=)
2g.32063857A>CCA346601215SPASTc.26A>C (p.Lys9Thr)
2g.32063857A>GCA346601216SPASTc.26A>G (p.Lys9Arg)
ClinVar
2g.32063857A>TCA346601217SPASTc.26A>T (p.Lys9Met)
2g.32063858G>ACA425580700SPASTc.27G>A (p.Lys9=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32063858G>CCA346601218SPASTc.27G>C (p.Lys9Asn)
gnomAD v4
2g.32063858G=CA1242461579SPASTc.27G= (p.Lys9=)
2g.32063858G>TCA346601219SPASTc.27G>T (p.Lys9Asn)
gnomAD v4
2g.32063858dupCA1139656818SPASTc.27dup (p.Lys10GlufsTer?)
ClinVar dbSNP
2g.32063859A>CCA346601221SPASTc.28A>C (p.Lys10Gln)
2g.32063859A>GCA346601222SPASTc.28A>G (p.Lys10Glu)
2g.32063859A>TCA346601220SPASTc.28A>T (p.Lys10Ter)
2g.32063860A>CCA346601223SPASTc.29A>C (p.Lys10Thr)
2g.32063860A>GCA346601224SPASTc.29A>G (p.Lys10Arg)
ClinVar dbSNP gnomAD v4
2g.32063860A>TCA346601225SPASTc.29A>T (p.Lys10Met)
2g.32063861G>ACA1600459SPASTc.30G>A (p.Lys10=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063861G>CCA346601226SPASTc.30G>C (p.Lys10Asn)
gnomAD v4
2g.32063861G=CA1242461580SPASTc.30G= (p.Lys10=)
2g.32063861G>TCA346601227SPASTc.30G>T (p.Lys10Asn)
gnomAD v4
2g.32063862A>CCA346601230SPASTc.31A>C (p.Lys11Gln)
2g.32063862A>GCA346601228SPASTc.31A>G (p.Lys11Glu)
gnomAD v4
2g.32063862A>TCA346601229SPASTc.31A>T (p.Lys11Ter)
2g.32063863A=CA1242461581SPASTc.32A= (p.Lys11=)
2g.32063863A>CCA346601231SPASTc.32A>C (p.Lys11Thr)
2g.32063863A>GCA346601232SPASTc.32A>G (p.Lys11Arg)
dbSNP gnomAD v3 gnomAD v4
2g.32063863A>TCA346601233SPASTc.32A>T (p.Lys11Ile)
2g.32063864A>CCA346601234SPASTc.33A>C (p.Lys11Asn)
2g.32063864A>GCA425580701SPASTc.33A>G (p.Lys11=)
gnomAD v4
2g.32063864A>TCA346601235SPASTc.33A>T (p.Lys11Asn)
2g.32063865G>ACA346601236SPASTc.34G>A (p.Gly12Ser)
ClinVar gnomAD v4
2g.32063865G>CCA346601238SPASTc.34G>C (p.Gly12Arg)
2g.32063865G>TCA346601237SPASTc.34G>T (p.Gly12Cys)
gnomAD v4
2g.32063866G>ACA346601239SPASTc.35G>A (p.Gly12Asp)
gnomAD v4
2g.32063866G>CCA346601241SPASTc.35G>C (p.Gly12Ala)
2g.32063866G>TCA346601240SPASTc.35G>T (p.Gly12Val)
gnomAD v4
2g.32063867C>ACA425580702SPASTc.36C>A (p.Gly12=)
gnomAD v4
2g.32063867C=CA1242461582SPASTc.36C= (p.Gly12=)
2g.32063867C>GCA425580703SPASTc.36C>G (p.Gly12=)
2g.32063867C>TCA425580704SPASTc.36C>T (p.Gly12=)
dbSNP gnomAD v2 gnomAD v4
2g.32063868T>ACA1600460SPASTc.37T>A (p.Ser13Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32063868T>CCA1600461SPASTc.37T>C (p.Ser13Pro)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.32063868T>GCA346601242SPASTc.37T>G (p.Ser13Ala)
dbSNP gnomAD v2 gnomAD v4
2g.32063868T=CA1242461583SPASTc.37T= (p.Ser13=)
2g.32063869C>ACA346601243SPASTc.38C>A (p.Ser13Tyr)
gnomAD v4
2g.32063869C>GCA346601245SPASTc.38C>G (p.Ser13Cys)
2g.32063869C>TCA346601244SPASTc.38C>T (p.Ser13Phe)
2g.32063870C>ACA425580705SPASTc.39C>A (p.Ser13=)
2g.32063870C=CA1242461584SPASTc.39C= (p.Ser13=)
2g.32063870C>GCA425580706SPASTc.39C>G (p.Ser13=)
2g.32063870C>TCA1600462SPASTc.39C>T (p.Ser13=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32063871G>ACA346601246SPASTc.40G>A (p.Gly14Ser)
ClinVar gnomAD v4
2g.32063871G>CCA346601247SPASTc.40G>C (p.Gly14Arg)
2g.32063871G>TCA346601248SPASTc.40G>T (p.Gly14Cys)
gnomAD v4
2g.32063872G>ACA346601249SPASTc.41G>A (p.Gly14Asp)
gnomAD v4
2g.32063872G>CCA346601250SPASTc.41G>C (p.Gly14Ala)
2g.32063872G>TCA346601251SPASTc.41G>T (p.Gly14Val)
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

Number of alleles fetched