Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32063148_32067182delCA339677 ClinVar
2g.32063720_32066025delCA325517SPASTc.-112_446del
c.-112_415+1779del
 ClinVar
2g.32064113_32064153delCA2586968939SPASTc.282_322del (p.Ala96GlyfsTer26)
c.166_206del
c.152_192del
c.24_64del (p.Ala10GlyfsTer26)
c.158_198del
c.123_163del (p.Ala43GlyfsTer26)
c.116_156del
2g.32064118_32064158delCA2586968942SPASTc.287_327del (p.Ala96GlyfsTer26)
c.171_211del
c.157_197del
c.29_69del (p.Ala10GlyfsTer26)
c.163_203del
c.128_168del (p.Ala43GlyfsTer26)
c.121_161del
2g.32064116_32064145delCA2658519899SPASTc.285_314del (p.Ala96_Pro105del)
c.169_198del
c.155_184del
c.27_56del (p.Ala10_Pro19del)
c.161_190del
c.126_155del (p.Ala43_Pro52del)
c.119_148del
 gnomAD v4
2g.32064121C>ACA346602135SPASTc.290C>A (p.Pro97Gln)
c.174C>A
c.160C>A
c.32C>A (p.Pro11Gln)
c.166C>A
c.131C>A (p.Pro44Gln)
c.124C>A
2g.32064121C=CA1242461755SPASTc.290C= (p.Pro97=)
c.174C=
c.160C=
c.32C= (p.Pro11=)
c.166C=
c.131C= (p.Pro44=)
c.124C=
2g.32064121C>GCA346602138SPASTc.290C>G (p.Pro97Arg)
c.174C>G
c.160C>G
c.32C>G (p.Pro11Arg)
c.166C>G
c.131C>G (p.Pro44Arg)
c.124C>G
 ClinVar dbSNP gnomAD v4
2g.32064121C>TCA346602139SPASTc.290C>T (p.Pro97Leu)
c.174C>T
c.160C>T
c.32C>T (p.Pro11Leu)
c.166C>T
c.131C>T (p.Pro44Leu)
c.124C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064122A>CCA425627992SPASTc.291A>C (p.Pro97=)
c.175A>C
c.161A>C
c.33A>C (p.Pro11=)
c.167A>C
c.132A>C (p.Pro44=)
c.125A>C
2g.32064122A>GCA425627994SPASTc.291A>G (p.Pro97=)
c.175A>G
c.161A>G
c.33A>G (p.Pro11=)
c.167A>G
c.132A>G (p.Pro44=)
c.125A>G
2g.32064122A>TCA425627996SPASTc.291A>T (p.Pro97=)
c.175A>T
c.161A>T
c.33A>T (p.Pro11=)
c.167A>T
c.132A>T (p.Pro44=)
c.125A>T
2g.32064123G>ACA346602143SPASTc.292G>A (p.Ala98Thr)
c.176G>A
c.162G>A
c.34G>A (p.Ala12Thr)
c.168G>A
c.133G>A (p.Ala45Thr)
c.126G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064123G>CCA346602147SPASTc.292G>C (p.Ala98Pro)
c.176G>C
c.162G>C
c.34G>C (p.Ala12Pro)
c.168G>C
c.133G>C (p.Ala45Pro)
c.126G>C
2g.32064123G=CA1242461756SPASTc.292G= (p.Ala98=)
c.176G=
c.162G=
c.34G= (p.Ala12=)
c.168G=
c.133G= (p.Ala45=)
c.126G=
2g.32064123G>TCA346602144SPASTc.292G>T (p.Ala98Ser)
c.176G>T
c.162G>T
c.34G>T (p.Ala12Ser)
c.168G>T
c.133G>T (p.Ala45Ser)
c.126G>T
 gnomAD v4
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.32064124C>ACA346602149SPASTc.293C>A (p.Ala98Glu)
c.177C>A
c.163C>A
c.35C>A (p.Ala12Glu)
c.169C>A
c.134C>A (p.Ala45Glu)
c.127C>A
2g.32064124C>GCA346602151SPASTc.293C>G (p.Ala98Gly)
c.177C>G
c.163C>G
c.35C>G (p.Ala12Gly)
c.169C>G
c.134C>G (p.Ala45Gly)
c.127C>G
2g.32064124C>TCA346602153SPASTc.293C>T (p.Ala98Val)
c.177C>T
c.163C>T
c.35C>T (p.Ala12Val)
c.169C>T
c.134C>T (p.Ala45Val)
c.127C>T
 ClinVar gnomAD v4
2g.32064125A=CA1242461757SPASTc.294A= (p.Ala98=)
c.178A=
c.164A=
c.36A= (p.Ala12=)
c.170A=
c.135A= (p.Ala45=)
c.128A=
2g.32064125A>CCA1600540SPASTc.294A>C (p.Ala98=)
c.178A>C
c.164A>C
c.36A>C (p.Ala12=)
c.170A>C
c.135A>C (p.Ala45=)
c.128A>C
 dbSNP ExAC gnomAD v4
2g.32064125A>GCA425628025SPASTc.294A>G (p.Ala98=)
c.178A>G
c.164A>G
c.36A>G (p.Ala12=)
c.170A>G
c.135A>G (p.Ala45=)
c.128A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064125A>TCA425628024SPASTc.294A>T (p.Ala98=)
c.178A>T
c.164A>T
c.36A>T (p.Ala12=)
c.170A>T
c.135A>T (p.Ala45=)
c.128A>T
2g.32064126C>ACA346602154SPASTc.295C>A (p.Pro99Thr)
c.179C>A
c.165C>A
c.37C>A (p.Pro13Thr)
c.171C>A
c.136C>A (p.Pro46Thr)
c.129C>A
 gnomAD v4
2g.32064126C=CA1242461758SPASTc.295C= (p.Pro99=)
c.179C=
c.165C=
c.37C= (p.Pro13=)
c.171C=
c.136C= (p.Pro46=)
c.129C=
2g.32064126C>GCA346602155SPASTc.295C>G (p.Pro99Ala)
c.179C>G
c.165C>G
c.37C>G (p.Pro13Ala)
c.171C>G
c.136C>G (p.Pro46Ala)
c.129C>G
2g.32064126C>TCA1600541SPASTc.295C>T (p.Pro99Ser)
c.179C>T
c.165C>T
c.37C>T (p.Pro13Ser)
c.171C>T
c.136C>T (p.Pro46Ser)
c.129C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064127C>ACA346602157SPASTc.296C>A (p.Pro99His)
c.180C>A
c.166C>A
c.38C>A (p.Pro13His)
c.172C>A
c.137C>A (p.Pro46His)
c.130C>A
2g.32064127C>GCA346602159SPASTc.296C>G (p.Pro99Arg)
c.180C>G
c.166C>G
c.38C>G (p.Pro13Arg)
c.172C>G
c.137C>G (p.Pro46Arg)
c.130C>G
2g.32064127C>TCA346602162SPASTc.296C>T (p.Pro99Leu)
c.180C>T
c.166C>T
c.38C>T (p.Pro13Leu)
c.172C>T
c.137C>T (p.Pro46Leu)
c.130C>T
 ClinVar
2g.32064128_32064133dupCA1242461759SPASTc.297_302dup (p.Ser101_Ala102insAlaSer)
c.181_186dup
c.167_172dup
c.39_44dup (p.Ser15_Ala16insAlaSer)
c.173_178dup
c.138_143dup (p.Ser48_Ala49insAlaSer)
c.131_136dup
 dbSNP gnomAD v4
2g.32064128T>ACA425628042SPASTc.297T>A (p.Pro99=)
c.181T>A
c.167T>A
c.39T>A (p.Pro13=)
c.173T>A
c.138T>A (p.Pro46=)
c.131T>A
 dbSNP
2g.32064128T>CCA425628043SPASTc.297T>C (p.Pro99=)
c.181T>C
c.167T>C
c.39T>C (p.Pro13=)
c.173T>C
c.138T>C (p.Pro46=)
c.131T>C
2g.32064128T>GCA425628045SPASTc.297T>G (p.Pro99=)
c.181T>G
c.167T>G
c.39T>G (p.Pro13=)
c.173T>G
c.138T>G (p.Pro46=)
c.131T>G
 dbSNP gnomAD v4
2g.32064128T=CA1242461761SPASTc.297T= (p.Pro99=)
c.181T=
c.167T=
c.39T= (p.Pro13=)
c.173T=
c.138T= (p.Pro46=)
c.131T=
2g.32064128_32064134delinsTGCCTCGCA1242461760SPASTc.297_303delinsTGCCTCG (p.Pro99=)
c.181_187delinsTGCCTCG
c.167_173delinsTGCCTCG
c.39_45delinsTGCCTCG (p.Pro13=)
c.173_179delinsTGCCTCG
c.138_144delinsTGCCTCG (p.Pro46=)
c.131_137delinsTGCCTCG
2g.32064129G>ACA346602171SPASTc.298G>A (p.Ala100Thr)
c.182G>A
c.168G>A
c.40G>A (p.Ala14Thr)
c.174G>A
c.139G>A (p.Ala47Thr)
c.132G>A
 dbSNP
2g.32064129G>CCA346602177SPASTc.298G>C (p.Ala100Pro)
c.182G>C
c.168G>C
c.40G>C (p.Ala14Pro)
c.174G>C
c.139G>C (p.Ala47Pro)
c.132G>C
2g.32064129G=CA1242461762SPASTc.298G= (p.Ala100=)
c.182G=
c.168G=
c.40G= (p.Ala14=)
c.174G=
c.139G= (p.Ala47=)
c.132G=
2g.32064129G>TCA346602169SPASTc.298G>T (p.Ala100Ser)
c.182G>T
c.168G>T
c.40G>T (p.Ala14Ser)
c.174G>T
c.139G>T (p.Ala47Ser)
c.132G>T
2g.32064129_32064131dupCA2658519900SPASTc.298_300dup (p.Ala100_Ser101insAla)
c.182_184dup
c.168_170dup
c.40_42dup (p.Ala14_Ser15insAla)
c.174_176dup
c.139_141dup (p.Ala47_Ser48insAla)
c.132_134dup
 gnomAD v4
2g.32064138_32064143dupCA1600543SPASTc.307_312dup (p.Ala104_Pro105insSerAla)
c.191_196dup
c.177_182dup
c.49_54dup (p.Ala18_Pro19insSerAla)
c.183_188dup
c.148_153dup (p.Ala51_Pro52insSerAla)
c.141_146dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064138_32064143delCA1600542SPASTc.307_312del (p.Ser103_Ala104del)
c.191_196del
c.177_182del
c.49_54del (p.Ser17_Ala18del)
c.183_188del
c.148_153del (p.Ser50_Ala51del)
c.141_146del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064130C>ACA346602180SPASTc.299C>A (p.Ala100Asp)
c.183C>A
c.169C>A
c.41C>A (p.Ala14Asp)
c.175C>A
c.140C>A (p.Ala47Asp)
c.133C>A
2g.32064130C=CA1242461763SPASTc.299C= (p.Ala100=)
c.183C=
c.169C=
c.41C= (p.Ala14=)
c.175C=
c.140C= (p.Ala47=)
c.133C=
2g.32064130C>GCA346602183SPASTc.299C>G (p.Ala100Gly)
c.183C>G
c.169C>G
c.41C>G (p.Ala14Gly)
c.175C>G
c.140C>G (p.Ala47Gly)
c.133C>G
2g.32064130C>TCA1600544SPASTc.299C>T (p.Ala100Val)
c.183C>T
c.169C>T
c.41C>T (p.Ala14Val)
c.175C>T
c.140C>T (p.Ala47Val)
c.133C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064131delCA2576929934SPASTc.300del (p.Ser101ArgfsTer?)
c.184del
c.170del
c.42del (p.Ser15ArgfsTer?)
c.176del
c.141del (p.Ser48ArgfsTer?)
c.134del
 gnomAD v4
2g.32064131C>ACA425626842SPASTc.300C>A (p.Ala100=)
c.184C>A
c.170C>A
c.42C>A (p.Ala14=)
c.176C>A
c.141C>A (p.Ala47=)
c.134C>A
2g.32064131C=CA1242461764SPASTc.300C= (p.Ala100=)
c.184C=
c.170C=
c.42C= (p.Ala14=)
c.176C=
c.141C= (p.Ala47=)
c.134C=
2g.32064131C>GCA425626858SPASTc.300C>G (p.Ala100=)
c.184C>G
c.170C>G
c.42C>G (p.Ala14=)
c.176C>G
c.141C>G (p.Ala47=)
c.134C>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064131C>TCA425626859SPASTc.300C>T (p.Ala100=)
c.184C>T
c.170C>T
c.42C>T (p.Ala14=)
c.176C>T
c.141C>T (p.Ala47=)
c.134C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064132T>ACA346602185SPASTc.301T>A (p.Ser101Thr)
c.185T>A
c.171T>A
c.43T>A (p.Ser15Thr)
c.177T>A
c.142T>A (p.Ser48Thr)
c.135T>A
2g.32064132T>CCA346602188SPASTc.301T>C (p.Ser101Pro)
c.185T>C
c.171T>C
c.43T>C (p.Ser15Pro)
c.177T>C
c.142T>C (p.Ser48Pro)
c.135T>C
2g.32064132T>GCA346602191SPASTc.301T>G (p.Ser101Ala)
c.185T>G
c.171T>G
c.43T>G (p.Ser15Ala)
c.177T>G
c.142T>G (p.Ser48Ala)
c.135T>G
2g.32064133C>ACA346602193SPASTc.302C>A (p.Ser101Ter)
c.186C>A
c.172C>A
c.44C>A (p.Ser15Ter)
c.178C>A
c.143C>A (p.Ser48Ter)
c.136C>A
 ClinVar dbSNP gnomAD v4
2g.32064133C=CA1242461765SPASTc.302C= (p.Ser101=)
c.186C=
c.172C=
c.44C= (p.Ser15=)
c.178C=
c.143C= (p.Ser48=)
c.136C=
2g.32064133C>GCA346602195SPASTc.302C>G (p.Ser101Trp)
c.186C>G
c.172C>G
c.44C>G (p.Ser15Trp)
c.178C>G
c.143C>G (p.Ser48Trp)
c.136C>G
 gnomAD v4
2g.32064133C>TCA1600545SPASTc.302C>T (p.Ser101Leu)
c.186C>T
c.172C>T
c.44C>T (p.Ser15Leu)
c.178C>T
c.143C>T (p.Ser48Leu)
c.136C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064134G>ACA425626867SPASTc.303G>A (p.Ser101=)
c.187G>A
c.173G>A
c.45G>A (p.Ser15=)
c.179G>A
c.144G>A (p.Ser48=)
c.137G>A
 ClinVar
2g.32064134G>CCA425626865SPASTc.303G>C (p.Ser101=)
c.187G>C
c.173G>C
c.45G>C (p.Ser15=)
c.179G>C
c.144G>C (p.Ser48=)
c.137G>C
 gnomAD v4
2g.32064134G=CA1242461766SPASTc.303G= (p.Ser101=)
c.187G=
c.173G=
c.45G= (p.Ser15=)
c.179G=
c.144G= (p.Ser48=)
c.137G=
2g.32064134G>TCA425626864SPASTc.303G>T (p.Ser101=)
c.187G>T
c.173G>T
c.45G>T (p.Ser15=)
c.179G>T
c.144G>T (p.Ser48=)
c.137G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064135G>ACA346602200SPASTc.304G>A (p.Ala102Thr)
c.188G>A
c.174G>A
c.46G>A (p.Ala16Thr)
c.180G>A
c.145G>A (p.Ala49Thr)
c.138G>A
 dbSNP gnomAD v4
2g.32064135G>CCA346602202SPASTc.304G>C (p.Ala102Pro)
c.188G>C
c.174G>C
c.46G>C (p.Ala16Pro)
c.180G>C
c.145G>C (p.Ala49Pro)
c.138G>C
2g.32064135G=CA1242461767SPASTc.304G= (p.Ala102=)
c.188G=
c.174G=
c.46G= (p.Ala16=)
c.180G=
c.145G= (p.Ala49=)
c.138G=
2g.32064135G>TCA346602203SPASTc.304G>T (p.Ala102Ser)
c.188G>T
c.174G>T
c.46G>T (p.Ala16Ser)
c.180G>T
c.145G>T (p.Ala49Ser)
c.138G>T
2g.32064136C>ACA346602208SPASTc.305C>A (p.Ala102Asp)
c.189C>A
c.175C>A
c.47C>A (p.Ala16Asp)
c.181C>A
c.146C>A (p.Ala49Asp)
c.139C>A
2g.32064136C>GCA346602211SPASTc.305C>G (p.Ala102Gly)
c.189C>G
c.175C>G
c.47C>G (p.Ala16Gly)
c.181C>G
c.146C>G (p.Ala49Gly)
c.139C>G
2g.32064136C>TCA346602206SPASTc.305C>T (p.Ala102Val)
c.189C>T
c.175C>T
c.47C>T (p.Ala16Val)
c.181C>T
c.146C>T (p.Ala49Val)
c.139C>T
2g.32064137C>ACA425626889SPASTc.306C>A (p.Ala102=)
c.190C>A
c.176C>A
c.48C>A (p.Ala16=)
c.182C>A
c.147C>A (p.Ala49=)
c.140C>A
2g.32064137C=CA1242461768SPASTc.306C= (p.Ala102=)
c.190C=
c.176C=
c.48C= (p.Ala16=)
c.182C=
c.147C= (p.Ala49=)
c.140C=
2g.32064137C>GCA425626894SPASTc.306C>G (p.Ala102=)
c.190C>G
c.176C>G
c.48C>G (p.Ala16=)
c.182C>G
c.147C>G (p.Ala49=)
c.140C>G
 gnomAD v4
2g.32064137C>TCA45201403SPASTc.306C>T (p.Ala102=)
c.190C>T
c.176C>T
c.48C>T (p.Ala16=)
c.182C>T
c.147C>T (p.Ala49=)
c.140C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064138delCA2576929935SPASTc.307del (p.Ser103ArgfsTer?)
c.191del
c.177del
c.49del (p.Ser17ArgfsTer?)
c.183del
c.148del (p.Ser50ArgfsTer?)
c.141del
2g.32064138T>ACA346602214SPASTc.307T>A (p.Ser103Thr)
c.191T>A
c.177T>A
c.49T>A (p.Ser17Thr)
c.183T>A
c.148T>A (p.Ser50Thr)
c.141T>A
2g.32064138T>CCA45201404SPASTc.307T>C (p.Ser103Pro)
c.191T>C
c.177T>C
c.49T>C (p.Ser17Pro)
c.183T>C
c.148T>C (p.Ser50Pro)
c.141T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064138T>GCA346602217SPASTc.307T>G (p.Ser103Ala)
c.191T>G
c.177T>G
c.49T>G (p.Ser17Ala)
c.183T>G
c.148T>G (p.Ser50Ala)
c.141T>G
 ClinVar
2g.32064138T=CA1242461769SPASTc.307T= (p.Ser103=)
c.191T=
c.177T=
c.49T= (p.Ser17=)
c.183T=
c.148T= (p.Ser50=)
c.141T=
2g.32064139C>ACA346602222SPASTc.308C>A (p.Ser103Ter)
c.192C>A
c.178C>A
c.50C>A (p.Ser17Ter)
c.184C>A
c.149C>A (p.Ser50Ter)
c.142C>A
2g.32064139C=CA1242461770SPASTc.308C= (p.Ser103=)
c.192C=
c.178C=
c.50C= (p.Ser17=)
c.184C=
c.149C= (p.Ser50=)
c.142C=
2g.32064139C>GCA346602224SPASTc.308C>G (p.Ser103Trp)
c.192C>G
c.178C>G
c.50C>G (p.Ser17Trp)
c.184C>G
c.149C>G (p.Ser50Trp)
c.142C>G
2g.32064139C>TCA346602226SPASTc.308C>T (p.Ser103Leu)
c.192C>T
c.178C>T
c.50C>T (p.Ser17Leu)
c.184C>T
c.149C>T (p.Ser50Leu)
c.142C>T
 dbSNP
2g.32064143_32064148dupCA1600546SPASTc.312_317dup (p.Ala106_Pro107insProAla)
c.196_201dup
c.182_187dup
c.54_59dup (p.Ala20_Pro21insProAla)
c.188_193dup
c.153_158dup (p.Ala53_Pro54insProAla)
c.146_151dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064143_32064148delCA645524363SPASTc.312_317del (p.Pro105_Ala106del)
c.196_201del
c.182_187del
c.54_59del (p.Pro19_Ala20del)
c.188_193del
c.153_158del (p.Pro52_Ala53del)
c.146_151del
 ClinVar COSMIC
2g.32064140G>ACA425626900SPASTc.309G>A (p.Ser103=)
c.193G>A
c.179G>A
c.51G>A (p.Ser17=)
c.185G>A
c.150G>A (p.Ser50=)
c.143G>A
2g.32064140G>CCA1600547SPASTc.309G>C (p.Ser103=)
c.193G>C
c.179G>C
c.51G>C (p.Ser17=)
c.185G>C
c.150G>C (p.Ser50=)
c.143G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064140G=CA1242461771SPASTc.309G= (p.Ser103=)
c.193G=
c.179G=
c.51G= (p.Ser17=)
c.185G=
c.150G= (p.Ser50=)
c.143G=
2g.32064140G>TCA425626907SPASTc.309G>T (p.Ser103=)
c.193G>T
c.179G>T
c.51G>T (p.Ser17=)
c.185G>T
c.150G>T (p.Ser50=)
c.143G>T
 dbSNP gnomAD v3 gnomAD v4
2g.32064141delCA2586968944SPASTc.310del (p.Ala104ProfsTer?)
c.194del
c.180del
c.52del (p.Ala18ProfsTer?)
c.186del
c.151del (p.Ala51ProfsTer?)
c.144del
2g.32064141G>ACA346602231SPASTc.310G>A (p.Ala104Thr)
c.194G>A
c.180G>A
c.52G>A (p.Ala18Thr)
c.186G>A
c.151G>A (p.Ala51Thr)
c.144G>A
2g.32064141G>CCA346602234SPASTc.310G>C (p.Ala104Pro)
c.194G>C
c.180G>C
c.52G>C (p.Ala18Pro)
c.186G>C
c.151G>C (p.Ala51Pro)
c.144G>C
 ClinVar
2g.32064141G>TCA346602236SPASTc.310G>T (p.Ala104Ser)
c.194G>T
c.180G>T
c.52G>T (p.Ala18Ser)
c.186G>T
c.151G>T (p.Ala51Ser)
c.144G>T
2g.32064144_32064151delCA2586968945SPASTc.313_320del (p.Pro105GlyfsTer28)
c.197_204del
c.183_190del
c.55_62del (p.Pro19GlyfsTer28)
c.189_196del
c.154_161del (p.Pro52GlyfsTer28)
c.147_154del
2g.32064142C>ACA346602240SPASTc.311C>A (p.Ala104Asp)
c.195C>A
c.181C>A
c.53C>A (p.Ala18Asp)
c.187C>A
c.152C>A (p.Ala51Asp)
c.145C>A
2g.32064142C>GCA346602242SPASTc.311C>G (p.Ala104Gly)
c.195C>G
c.181C>G
c.53C>G (p.Ala18Gly)
c.187C>G
c.152C>G (p.Ala51Gly)
c.145C>G
 COSMIC
2g.32064142C>TCA346602245SPASTc.311C>T (p.Ala104Val)
c.195C>T
c.181C>T
c.53C>T (p.Ala18Val)
c.187C>T
c.152C>T (p.Ala51Val)
c.145C>T
2g.32064145delCA2499215889SPASTc.314del (p.Pro105ArgfsTer?)
c.198del
c.184del
c.56del (p.Pro19ArgfsTer?)
c.190del
c.155del (p.Pro52ArgfsTer?)
c.148del
 ClinVar dbSNP
2g.32064142_32064143insGCA2576929936SPASTc.311_312insG (p.Ala106GlyfsTer?)
c.195_196insG
c.181_182insG
c.53_54insG (p.Ala20GlyfsTer?)
c.187_188insG
c.152_153insG (p.Ala53GlyfsTer?)
c.145_146insG
2g.32064143C>ACA425626920SPASTc.312C>A (p.Ala104=)
c.196C>A
c.182C>A
c.54C>A (p.Ala18=)
c.188C>A
c.153C>A (p.Ala51=)
c.146C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064143C=CA1242461772SPASTc.312C= (p.Ala104=)
c.196C=
c.182C=
c.54C= (p.Ala18=)
c.188C=
c.153C= (p.Ala51=)
c.146C=
2g.32064143C>GCA425626923SPASTc.312C>G (p.Ala104=)
c.196C>G
c.182C>G
c.54C>G (p.Ala18=)
c.188C>G
c.153C>G (p.Ala51=)
c.146C>G
 gnomAD v4
2g.32064143C>TCA425626928SPASTc.312C>T (p.Ala104=)
c.196C>T
c.182C>T
c.54C>T (p.Ala18=)
c.188C>T
c.153C>T (p.Ala51=)
c.146C>T
 ClinVar dbSNP gnomAD v2
2g.32064144C>ACA346602247SPASTc.313C>A (p.Pro105Thr)
c.197C>A
c.183C>A
c.55C>A (p.Pro19Thr)
c.189C>A
c.154C>A (p.Pro52Thr)
c.147C>A
2g.32064144C=CA1242461773SPASTc.313C= (p.Pro105=)
c.197C=
c.183C=
c.55C= (p.Pro19=)
c.189C=
c.154C= (p.Pro52=)
c.147C=
2g.32064144C>GCA1600548SPASTc.313C>G (p.Pro105Ala)
c.197C>G
c.183C>G
c.55C>G (p.Pro19Ala)
c.189C>G
c.154C>G (p.Pro52Ala)
c.147C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064144C>TCA346602246SPASTc.313C>T (p.Pro105Ser)
c.197C>T
c.183C>T
c.55C>T (p.Pro19Ser)
c.189C>T
c.154C>T (p.Pro52Ser)
c.147C>T
 gnomAD v4
2g.32064144_32064145insGGCACCA2576929937SPASTc.313_314insGGCAC (p.Pro105ArgfsTer?)
c.197_198insGGCAC
c.183_184insGGCAC
c.55_56insGGCAC (p.Pro19ArgfsTer?)
c.189_190insGGCAC
c.154_155insGGCAC (p.Pro52ArgfsTer?)
c.147_148insGGCAC
2g.32064148_32064153dupCA531769478SPASTc.317_322dup (p.Pro107_Val108insAlaPro)
c.201_206dup
c.187_192dup
c.59_64dup (p.Pro21_Val22insAlaPro)
c.193_198dup
c.158_163dup (p.Pro54_Val55insAlaPro)
c.151_156dup
 dbSNP gnomAD v2 gnomAD v4
2g.32064148_32064153delCA2658519901SPASTc.317_322del (p.Ala106_Pro107del)
c.201_206del
c.187_192del
c.59_64del (p.Ala20_Pro21del)
c.193_198del
c.158_163del (p.Ala53_Pro54del)
c.151_156del
 gnomAD v4
2g.32064145C>ACA346602249SPASTc.314C>A (p.Pro105Gln)
c.198C>A
c.184C>A
c.56C>A (p.Pro19Gln)
c.190C>A
c.155C>A (p.Pro52Gln)
c.148C>A
 gnomAD v4
2g.32064145C=CA1242461774SPASTc.314C= (p.Pro105=)
c.198C=
c.184C=
c.56C= (p.Pro19=)
c.190C=
c.155C= (p.Pro52=)
c.148C=
2g.32064145C>GCA346602252SPASTc.314C>G (p.Pro105Arg)
c.198C>G
c.184C>G
c.56C>G (p.Pro19Arg)
c.190C>G
c.155C>G (p.Pro52Arg)
c.148C>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064145C>TCA346602250SPASTc.314C>T (p.Pro105Leu)
c.198C>T
c.184C>T
c.56C>T (p.Pro19Leu)
c.190C>T
c.155C>T (p.Pro52Leu)
c.148C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064146G>ACA1600549SPASTc.315G>A (p.Pro105=)
c.199G>A
c.185G>A
c.57G>A (p.Pro19=)
c.191G>A
c.156G>A (p.Pro52=)
c.149G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064146G>CCA425626937SPASTc.315G>C (p.Pro105=)
c.199G>C
c.185G>C
c.57G>C (p.Pro19=)
c.191G>C
c.156G>C (p.Pro52=)
c.149G>C
2g.32064146G=CA1242461775SPASTc.315G= (p.Pro105=)
c.199G=
c.185G=
c.57G= (p.Pro19=)
c.191G=
c.156G= (p.Pro52=)
c.149G=
2g.32064146G>TCA425626939SPASTc.315G>T (p.Pro105=)
c.199G>T
c.185G>T
c.57G>T (p.Pro19=)
c.191G>T
c.156G>T (p.Pro52=)
c.149G>T
 dbSNP gnomAD v3 gnomAD v4
2g.32064147G>ACA346602254SPASTc.316G>A (p.Ala106Thr)
c.200G>A
c.186G>A
c.58G>A (p.Ala20Thr)
c.192G>A
c.157G>A (p.Ala53Thr)
c.150G>A
2g.32064147G>CCA1600550SPASTc.316G>C (p.Ala106Pro)
c.200G>C
c.186G>C
c.58G>C (p.Ala20Pro)
c.192G>C
c.157G>C (p.Ala53Pro)
c.150G>C
 dbSNP ExAC gnomAD v2
2g.32064147G=CA1242461776SPASTc.316G= (p.Ala106=)
c.200G=
c.186G=
c.58G= (p.Ala20=)
c.192G=
c.157G= (p.Ala53=)
c.150G=
2g.32064147G>TCA346602258SPASTc.316G>T (p.Ala106Ser)
c.200G>T
c.186G>T
c.58G>T (p.Ala20Ser)
c.192G>T
c.157G>T (p.Ala53Ser)
c.150G>T
 gnomAD v4
2g.32064148C>ACA346602262SPASTc.317C>A (p.Ala106Glu)
c.201C>A
c.187C>A
c.59C>A (p.Ala20Glu)
c.193C>A
c.158C>A (p.Ala53Glu)
c.151C>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064148C=CA1242461778SPASTc.317C= (p.Ala106=)
c.201C=
c.187C=
c.59C= (p.Ala20=)
c.193C=
c.158C= (p.Ala53=)
c.151C=
2g.32064148C>GCA1600552SPASTc.317C>G (p.Ala106Gly)
c.201C>G
c.187C>G
c.59C>G (p.Ala20Gly)
c.193C>G
c.158C>G (p.Ala53Gly)
c.151C>G
 dbSNP ExAC
2g.32064148C>TCA1600551SPASTc.317C>T (p.Ala106Val)
c.201C>T
c.187C>T
c.59C>T (p.Ala20Val)
c.193C>T
c.158C>T (p.Ala53Val)
c.151C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064148_32064154delinsCGCCGGTCA1242461777SPASTc.317_323delinsCGCCGGT (p.Ala106=)
c.201_207delinsCGCCGGT
c.187_193delinsCGCCGGT
c.59_65delinsCGCCGGT (p.Ala20=)
c.193_199delinsCGCCGGT
c.158_164delinsCGCCGGT (p.Ala53=)
c.151_157delinsCGCCGGT
2g.32064149G>ACA425626958SPASTc.318G>A (p.Ala106=)
c.202G>A
c.188G>A
c.60G>A (p.Ala20=)
c.194G>A
c.159G>A (p.Ala53=)
c.152G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32064149G>CCA45201405SPASTc.318G>C (p.Ala106=)
c.202G>C
c.188G>C
c.60G>C (p.Ala20=)
c.194G>C
c.159G>C (p.Ala53=)
c.152G>C
 dbSNP gnomAD v2 gnomAD v4
2g.32064149G=CA1242461779SPASTc.318G= (p.Ala106=)
c.202G=
c.188G=
c.60G= (p.Ala20=)
c.194G=
c.159G= (p.Ala53=)
c.152G=
2g.32064149G>TCA425626952SPASTc.318G>T (p.Ala106=)
c.202G>T
c.188G>T
c.60G>T (p.Ala20=)
c.194G>T
c.159G>T (p.Ala53=)
c.152G>T
2g.32064154_32064159dupCA531769479SPASTc.323_328dup (p.Pro109_Gly110insValPro)
c.207_212dup
c.193_198dup
c.65_70dup (p.Pro23_Gly24insValPro)
c.199_204dup
c.164_169dup (p.Pro56_Gly57insValPro)
c.157_162dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064154_32064159delCA1600553SPASTc.323_328del (p.Val108_Pro109del)
c.207_212del
c.193_198del
c.65_70del (p.Val22_Pro23del)
c.199_204del
c.164_169del (p.Val55_Pro56del)
c.157_162del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064150C>ACA346602267SPASTc.319C>A (p.Pro107Thr)
c.203C>A
c.189C>A
c.61C>A (p.Pro21Thr)
c.195C>A
c.160C>A (p.Pro54Thr)
c.153C>A
2g.32064150C=CA1242461780SPASTc.319C= (p.Pro107=)
c.203C=
c.189C=
c.61C= (p.Pro21=)
c.195C=
c.160C= (p.Pro54=)
c.153C=
2g.32064150C>GCA346602268SPASTc.319C>G (p.Pro107Ala)
c.203C>G
c.189C>G
c.61C>G (p.Pro21Ala)
c.195C>G
c.160C>G (p.Pro54Ala)
c.153C>G
 dbSNP gnomAD v4
2g.32064150C>TCA346602270SPASTc.319C>T (p.Pro107Ser)
c.203C>T
c.189C>T
c.61C>T (p.Pro21Ser)
c.195C>T
c.160C>T (p.Pro54Ser)
c.153C>T
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.32064151C>ACA346602272SPASTc.320C>A (p.Pro107Gln)
c.204C>A
c.190C>A
c.62C>A (p.Pro21Gln)
c.196C>A
c.161C>A (p.Pro54Gln)
c.154C>A
 gnomAD v4
2g.32064151C=CA1242461781SPASTc.320C= (p.Pro107=)
c.204C=
c.190C=
c.62C= (p.Pro21=)
c.196C=
c.161C= (p.Pro54=)
c.154C=
2g.32064151C>GCA1600555SPASTc.320C>G (p.Pro107Arg)
c.204C>G
c.190C>G
c.62C>G (p.Pro21Arg)
c.196C>G
c.161C>G (p.Pro54Arg)
c.154C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064151C>TCA1600554SPASTc.320C>T (p.Pro107Leu)
c.204C>T
c.190C>T
c.62C>T (p.Pro21Leu)
c.196C>T
c.161C>T (p.Pro54Leu)
c.154C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064152G>ACA45201406SPASTc.321G>A (p.Pro107=)
c.205G>A
c.191G>A
c.63G>A (p.Pro21=)
c.197G>A
c.162G>A (p.Pro54=)
c.155G>A
 dbSNP gnomAD v4
2g.32064152G>CCA1600556SPASTc.321G>C (p.Pro107=)
c.205G>C
c.191G>C
c.63G>C (p.Pro21=)
c.197G>C
c.162G>C (p.Pro54=)
c.155G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064152G=CA1242461782SPASTc.321G= (p.Pro107=)
c.205G=
c.191G=
c.63G= (p.Pro21=)
c.197G=
c.162G= (p.Pro54=)
c.155G=
2g.32064152G>TCA425626964SPASTc.321G>T (p.Pro107=)
c.205G>T
c.191G>T
c.63G>T (p.Pro21=)
c.197G>T
c.162G>T (p.Pro54=)
c.155G>T
2g.32064153G>ACA346602276SPASTc.322G>A (p.Val108Met)
c.206G>A
c.192G>A
c.64G>A (p.Val22Met)
c.198G>A
c.163G>A (p.Val55Met)
c.156G>A
2g.32064153G>CCA346602277SPASTc.322G>C (p.Val108Leu)
c.206G>C
c.192G>C
c.64G>C (p.Val22Leu)
c.198G>C
c.163G>C (p.Val55Leu)
c.156G>C
2g.32064153G>TCA346602279SPASTc.322G>T (p.Val108Leu)
c.206G>T
c.192G>T
c.64G>T (p.Val22Leu)
c.198G>T
c.163G>T (p.Val55Leu)
c.156G>T
2g.32064154T>ACA346602280SPASTc.323T>A (p.Val108Glu)
c.207T>A
c.193T>A
c.65T>A (p.Val22Glu)
c.199T>A
c.164T>A (p.Val55Glu)
c.157T>A
2g.32064154T>CCA346602281SPASTc.323T>C (p.Val108Ala)
c.207T>C
c.193T>C
c.65T>C (p.Val22Ala)
c.199T>C
c.164T>C (p.Val55Ala)
c.157T>C
 ClinVar dbSNP gnomAD v4
2g.32064154T>GCA346602283SPASTc.323T>G (p.Val108Gly)
c.207T>G
c.193T>G
c.65T>G (p.Val22Gly)
c.199T>G
c.164T>G (p.Val55Gly)
c.157T>G
 ClinVar
2g.32064154T=CA1242461784SPASTc.323T= (p.Val108=)
c.207T=
c.193T=
c.65T= (p.Val22=)
c.199T=
c.164T= (p.Val55=)
c.157T=
2g.32064154_32064167delinsTGCCGGGCGGCGAGCA1242461783SPASTc.323_336delinsTGCCGGGCGGCGAG (p.Val108=)
c.207_220delinsTGCCGGGCGGCGAG
c.193_206delinsTGCCGGGCGGCGAG
c.65_78delinsTGCCGGGCGGCGAG (p.Val22=)
c.199_212delinsTGCCGGGCGGCGAG
c.164_177delinsTGCCGGGCGGCGAG (p.Val55=)
c.157_170delinsTGCCGGGCGGCGAG
2g.32064155G>ACA425626978SPASTc.324G>A (p.Val108=)
c.208G>A
c.194G>A
c.66G>A (p.Val22=)
c.200G>A
c.165G>A (p.Val55=)
c.158G>A
2g.32064155G>CCA1600557SPASTc.324G>C (p.Val108=)
c.208G>C
c.194G>C
c.66G>C (p.Val22=)
c.200G>C
c.165G>C (p.Val55=)
c.158G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064155G=CA1242461785SPASTc.324G= (p.Val108=)
c.208G=
c.194G=
c.66G= (p.Val22=)
c.200G=
c.165G= (p.Val55=)
c.158G=
2g.32064155G>TCA425626980SPASTc.324G>T (p.Val108=)
c.208G>T
c.194G>T
c.66G>T (p.Val22=)
c.200G>T
c.165G>T (p.Val55=)
c.158G>T
 gnomAD v4
2g.32064159_32064171delCA658795702SPASTc.328_340del (p.Gly110SerfsTer?)
c.212_224del
c.198_210del
c.70_82del (p.Gly24SerfsTer?)
c.204_216del
c.169_181del (p.Gly57SerfsTer26)
c.162_174del
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.32064156C>ACA45201407SPASTc.325C>A (p.Pro109Thr)
c.209C>A
c.195C>A
c.67C>A (p.Pro23Thr)
c.201C>A
c.166C>A (p.Pro56Thr)
c.159C>A
 dbSNP
2g.32064156C=CA1242461786SPASTc.325C= (p.Pro109=)
c.209C=
c.195C=
c.67C= (p.Pro23=)
c.201C=
c.166C= (p.Pro56=)
c.159C=
2g.32064156C>GCA346602287SPASTc.325C>G (p.Pro109Ala)
c.209C>G
c.195C>G
c.67C>G (p.Pro23Ala)
c.201C>G
c.166C>G (p.Pro56Ala)
c.159C>G
2g.32064156C>TCA346602289SPASTc.325C>T (p.Pro109Ser)
c.209C>T
c.195C>T
c.67C>T (p.Pro23Ser)
c.201C>T
c.166C>T (p.Pro56Ser)
c.159C>T
 gnomAD v4
2g.32064157C>ACA346602291SPASTc.326C>A (p.Pro109Gln)
c.210C>A
c.196C>A
c.68C>A (p.Pro23Gln)
c.202C>A
c.167C>A (p.Pro56Gln)
c.160C>A
2g.32064157C=CA1242461787SPASTc.326C= (p.Pro109=)
c.210C=
c.196C=
c.68C= (p.Pro23=)
c.202C=
c.167C= (p.Pro56=)
c.160C=
2g.32064157C>GCA1600558SPASTc.326C>G (p.Pro109Arg)
c.210C>G
c.196C>G
c.68C>G (p.Pro23Arg)
c.202C>G
c.167C>G (p.Pro56Arg)
c.160C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064157C>TCA1600559SPASTc.326C>T (p.Pro109Leu)
c.210C>T
c.196C>T
c.68C>T (p.Pro23Leu)
c.202C>T
c.167C>T (p.Pro56Leu)
c.160C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064158G>ACA45201408SPASTc.327G>A (p.Pro109=)
c.211G>A
c.197G>A
c.69G>A (p.Pro23=)
c.203G>A
c.168G>A (p.Pro56=)
c.161G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.32064158G>CCA16604219SPASTc.327G>C (p.Pro109=)
c.211G>C
c.197G>C
c.69G>C (p.Pro23=)
c.203G>C
c.168G>C (p.Pro56=)
c.161G>C
 ClinVar dbSNP gnomAD v4
2g.32064158G=CA1242461788SPASTc.327G= (p.Pro109=)
c.211G=
c.197G=
c.69G= (p.Pro23=)
c.203G=
c.168G= (p.Pro56=)
c.161G=
2g.32064158G>TCA425626992SPASTc.327G>T (p.Pro109=)
c.211G>T
c.197G>T
c.69G>T (p.Pro23=)
c.203G>T
c.168G>T (p.Pro56=)
c.161G>T
 gnomAD v4
2g.32064158_32064159insACA2576929938SPASTc.327_328insA (p.Gly110ArgfsTer26)
c.211_212insA
c.197_198insA
c.69_70insA (p.Gly24ArgfsTer26)
c.203_204insA
c.168_169insA (p.Gly57ArgfsTer26)
c.161_162insA
2g.32064159G>ACA346602296SPASTc.328G>A (p.Gly110Ser)
c.212G>A
c.198G>A
c.70G>A (p.Gly24Ser)
c.204G>A
c.169G>A (p.Gly57Ser)
c.162G>A
 gnomAD v4 COSMIC
2g.32064159G>CCA346602298SPASTc.328G>C (p.Gly110Arg)
c.212G>C
c.198G>C
c.70G>C (p.Gly24Arg)
c.204G>C
c.169G>C (p.Gly57Arg)
c.162G>C
2g.32064159G>TCA346602297SPASTc.328G>T (p.Gly110Cys)
c.212G>T
c.198G>T
c.70G>T (p.Gly24Cys)
c.204G>T
c.169G>T (p.Gly57Cys)
c.162G>T
2g.32064160G>ACA346602300SPASTc.329G>A (p.Gly110Asp)
c.213G>A
c.199G>A
c.71G>A (p.Gly24Asp)
c.205G>A
c.170G>A (p.Gly57Asp)
c.163G>A
2g.32064160G>CCA346602302SPASTc.329G>C (p.Gly110Ala)
c.213G>C
c.199G>C
c.71G>C (p.Gly24Ala)
c.205G>C
c.170G>C (p.Gly57Ala)
c.163G>C
2g.32064160G>TCA346602303SPASTc.329G>T (p.Gly110Val)
c.213G>T
c.199G>T
c.71G>T (p.Gly24Val)
c.205G>T
c.170G>T (p.Gly57Val)
c.163G>T
 gnomAD v4
2g.32064161_32064162delCA2586968947SPASTc.330_331del (p.Gly111ArgfsTer24)
c.214_215del
c.200_201del
c.72_73del (p.Gly25ArgfsTer24)
c.206_207del
c.171_172del (p.Gly58ArgfsTer24)
c.164_165del
2g.32064161delCA2576929939SPASTc.330del (p.Gly111AlafsTer?)
c.214del
c.200del
c.72del (p.Gly25AlafsTer?)
c.206del
c.171del (p.Gly58AlafsTer29)
c.164del
 ClinVar
2g.32064161C>ACA45201411SPASTc.330C>A (p.Gly110=)
c.214C>A
c.200C>A
c.72C>A (p.Gly24=)
c.206C>A
c.171C>A (p.Gly57=)
c.164C>A
 dbSNP
2g.32064161C=CA1242461789SPASTc.330C= (p.Gly110=)
c.214C=
c.200C=
c.72C= (p.Gly24=)
c.206C=
c.171C= (p.Gly57=)
c.164C=
2g.32064161C>GCA45201410SPASTc.330C>G (p.Gly110=)
c.214C>G
c.200C>G
c.72C>G (p.Gly24=)
c.206C>G
c.171C>G (p.Gly57=)
c.164C>G
 dbSNP gnomAD v4
2g.32064161C>TCA45201409SPASTc.330C>T (p.Gly110=)
c.214C>T
c.200C>T
c.72C>T (p.Gly24=)
c.206C>T
c.171C>T (p.Gly57=)
c.164C>T
 dbSNP gnomAD v4
2g.32064162G>ACA1600560SPASTc.331G>A (p.Gly111Ser)
c.215G>A
c.201G>A
c.73G>A (p.Gly25Ser)
c.207G>A
c.172G>A (p.Gly58Ser)
c.165G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064162G>CCA346602308SPASTc.331G>C (p.Gly111Arg)
c.215G>C
c.201G>C
c.73G>C (p.Gly25Arg)
c.207G>C
c.172G>C (p.Gly58Arg)
c.165G>C
2g.32064162G=CA1242461790SPASTc.331G= (p.Gly111=)
c.215G=
c.201G=
c.73G= (p.Gly25=)
c.207G=
c.172G= (p.Gly58=)
c.165G=
2g.32064162G>TCA346602312SPASTc.331G>T (p.Gly111Cys)
c.215G>T
c.201G>T
c.73G>T (p.Gly25Cys)
c.207G>T
c.172G>T (p.Gly58Cys)
c.165G>T
 dbSNP gnomAD v2
2g.32064163_32064168delCA2658519902SPASTc.332_337del (p.Gly111_Glu112del)
c.216_221del
c.202_207del
c.74_79del (p.Gly25_Glu26del)
c.208_213del
c.173_178del (p.Gly58_Glu59del)
c.166_171del
 gnomAD v4
2g.32064163G>ACA346602313SPASTc.332G>A (p.Gly111Asp)
c.216G>A
c.202G>A
c.74G>A (p.Gly25Asp)
c.208G>A
c.173G>A (p.Gly58Asp)
c.166G>A
 gnomAD v4
2g.32064163G>CCA346602314SPASTc.332G>C (p.Gly111Ala)
c.216G>C
c.202G>C
c.74G>C (p.Gly25Ala)
c.208G>C
c.173G>C (p.Gly58Ala)
c.166G>C
 ClinVar
2g.32064163G>TCA346602315SPASTc.332G>T (p.Gly111Val)
c.216G>T
c.202G>T
c.74G>T (p.Gly25Val)
c.208G>T
c.173G>T (p.Gly58Val)
c.166G>T
2g.32064164C>ACA425627018SPASTc.333C>A (p.Gly111=)
c.217C>A
c.203C>A
c.75C>A (p.Gly25=)
c.209C>A
c.174C>A (p.Gly58=)
c.167C>A
 gnomAD v4
2g.32064164C=CA1242461791SPASTc.333C= (p.Gly111=)
c.217C=
c.203C=
c.75C= (p.Gly25=)
c.209C=
c.174C= (p.Gly58=)
c.167C=
2g.32064164C>GCA425627019SPASTc.333C>G (p.Gly111=)
c.217C>G
c.203C>G
c.75C>G (p.Gly25=)
c.209C>G
c.174C>G (p.Gly58=)
c.167C>G
 dbSNP gnomAD v4
2g.32064164C>TCA425627020SPASTc.333C>T (p.Gly111=)
c.217C>T
c.203C>T
c.75C>T (p.Gly25=)
c.209C>T
c.174C>T (p.Gly58=)
c.167C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064165G>ACA346602319SPASTc.334G>A (p.Glu112Lys)
c.218G>A
c.204G>A
c.76G>A (p.Glu26Lys)
c.210G>A
c.175G>A (p.Glu59Lys)
c.168G>A
 dbSNP
2g.32064165G>CCA346602317SPASTc.334G>C (p.Glu112Gln)
c.218G>C
c.204G>C
c.76G>C (p.Glu26Gln)
c.210G>C
c.175G>C (p.Glu59Gln)
c.168G>C
2g.32064165G=CA1242461792SPASTc.334G= (p.Glu112=)
c.218G=
c.204G=
c.76G= (p.Glu26=)
c.210G=
c.175G= (p.Glu59=)
c.168G=
2g.32064165G>TCA346602318SPASTc.334G>T (p.Glu112Ter)
c.218G>T
c.204G>T
c.76G>T (p.Glu26Ter)
c.210G>T
c.175G>T (p.Glu59Ter)
c.168G>T
 ClinVar dbSNP gnomAD v4
2g.32064166A>CCA346602320SPASTc.335A>C (p.Glu112Ala)
c.219A>C
c.205A>C
c.77A>C (p.Glu26Ala)
c.211A>C
c.176A>C (p.Glu59Ala)
c.169A>C
 ClinVar gnomAD v4
2g.32064166A>GCA346602321SPASTc.335A>G (p.Glu112Gly)
c.219A>G
c.205A>G
c.77A>G (p.Glu26Gly)
c.211A>G
c.176A>G (p.Glu59Gly)
c.169A>G
2g.32064166A>TCA346602323SPASTc.335A>T (p.Glu112Val)
c.219A>T
c.205A>T
c.77A>T (p.Glu26Val)
c.211A>T
c.176A>T (p.Glu59Val)
c.169A>T
2g.32064166_32064169delinsAGGCCA1242461793SPASTc.335_338delinsAGGC (p.Glu112=)
c.219_222delinsAGGC
c.205_208delinsAGGC
c.77_80delinsAGGC (p.Glu26=)
c.211_214delinsAGGC
c.176_179delinsAGGC (p.Glu59=)
c.169_172delinsAGGC
2g.32064167G>ACA425627026SPASTc.336G>A (p.Glu112=)
c.220G>A
c.206G>A
c.78G>A (p.Glu26=)
c.212G>A
c.177G>A (p.Glu59=)
c.170G>A
2g.32064167G>CCA346602325SPASTc.336G>C (p.Glu112Asp)
c.220G>C
c.206G>C
c.78G>C (p.Glu26Asp)
c.212G>C
c.177G>C (p.Glu59Asp)
c.170G>C
2g.32064167G>TCA346602327SPASTc.336G>T (p.Glu112Asp)
c.220G>T
c.206G>T
c.78G>T (p.Glu26Asp)
c.212G>T
c.177G>T (p.Glu59Asp)
c.170G>T
2g.32064167_32064169delCA767739037SPASTc.336_338del (p.Glu112_Ala113delinsAsp)
c.220_222del
c.206_208del
c.78_80del (p.Glu26_Ala27delinsAsp)
c.212_214del
c.177_179del (p.Glu59_Ala60delinsAsp)
c.170_172del
 dbSNP
2g.32064168G>ACA346602329SPASTc.337G>A (p.Ala113Thr)
c.221G>A
c.207G>A
c.79G>A (p.Ala27Thr)
c.213G>A
c.178G>A (p.Ala60Thr)
c.171G>A
 gnomAD v4
2g.32064168G>CCA346602331SPASTc.337G>C (p.Ala113Pro)
c.221G>C
c.207G>C
c.79G>C (p.Ala27Pro)
c.213G>C
c.178G>C (p.Ala60Pro)
c.171G>C
2g.32064168G=CA1242461794SPASTc.337G= (p.Ala113=)
c.221G=
c.207G=
c.79G= (p.Ala27=)
c.213G=
c.178G= (p.Ala60=)
c.171G=
2g.32064168G>TCA346602333SPASTc.337G>T (p.Ala113Ser)
c.221G>T
c.207G>T
c.79G>T (p.Ala27Ser)
c.213G>T
c.178G>T (p.Ala60Ser)
c.171G>T
 gnomAD v4
2g.32064169C>ACA346602334SPASTc.338C>A (p.Ala113Asp)
c.222C>A
c.208C>A
c.80C>A (p.Ala27Asp)
c.214C>A
c.179C>A (p.Ala60Asp)
c.172C>A
 gnomAD v4
2g.32064169C>GCA346602335SPASTc.338C>G (p.Ala113Gly)
c.222C>G
c.208C>G
c.80C>G (p.Ala27Gly)
c.214C>G
c.179C>G (p.Ala60Gly)
c.172C>G
 gnomAD v4
2g.32064169C>TCA346602339SPASTc.338C>T (p.Ala113Val)
c.222C>T
c.208C>T
c.80C>T (p.Ala27Val)
c.214C>T
c.179C>T (p.Ala60Val)
c.172C>T
 gnomAD v4
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.32064170C>ACA425627041SPASTc.339C>A (p.Ala113=)
c.223C>A
c.209C>A
c.81C>A (p.Ala27=)
c.215C>A
c.180C>A (p.Ala60=)
c.173C>A
 gnomAD v4
2g.32064170C>GCA425627035SPASTc.339C>G (p.Ala113=)
c.223C>G
c.209C>G
c.81C>G (p.Ala27=)
c.215C>G
c.180C>G (p.Ala60=)
c.173C>G
 gnomAD v4
2g.32064170C>TCA425627037SPASTc.339C>T (p.Ala113=)
c.223C>T
c.209C>T
c.81C>T (p.Ala27=)
c.215C>T
c.180C>T (p.Ala60=)
c.173C>T
 ClinVar gnomAD v4
2g.32064171G>ACA346602343SPASTc.340G>A (p.Glu114Lys)
c.224G>A
c.210G>A
c.82G>A (p.Glu28Lys)
c.216G>A
c.181G>A (p.Glu61Lys)
c.174G>A
 dbSNP gnomAD v4
2g.32064171G>CCA346602345SPASTc.340G>C (p.Glu114Gln)
c.224G>C
c.210G>C
c.82G>C (p.Glu28Gln)
c.216G>C
c.181G>C (p.Glu61Gln)
c.174G>C
 dbSNP
2g.32064171G=CA1242461796SPASTc.340G= (p.Glu114=)
c.224G=
c.210G=
c.82G= (p.Glu28=)
c.216G=
c.181G= (p.Glu61=)
c.174G=
2g.32064171G>TCA346602341SPASTc.340G>T (p.Glu114Ter)
c.224G>T
c.210G>T
c.82G>T (p.Glu28Ter)
c.216G>T
c.181G>T (p.Glu61Ter)
c.174G>T
 ClinVar dbSNP gnomAD v4
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

Number of alleles fetched