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.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.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.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

Number of alleles fetched