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.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.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.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.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.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

Number of alleles fetched