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.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.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

Number of alleles fetched