Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32063148_32067182delCA339677 ClinVar
2g.32063720_32066025delCA325517SPASTc.-112_446del
c.-112_415+1779del
 ClinVar
2g.32064038_32064053dupCA2739274304SPASTc.207_222dup (p.Phe75ProfsTer?)
c.91_106dup
c.77_92dup
c.-52_-37dup (n.-52_-37dup)
c.83_98dup
c.48_63dup (p.Phe22ProfsTer?)
c.41_56dup
 ClinVar
2g.32064045G>ACA346601724SPASTc.214G>A (p.Gly72Arg)
c.98G>A
c.84G>A
c.-45G>A (n.-45G>A)
c.90G>A
c.55G>A (p.Gly19Arg)
c.48G>A
 gnomAD v4
2g.32064045G>CCA346601725SPASTc.214G>C (p.Gly72Arg)
c.98G>C
c.84G>C
c.-45G>C (n.-45G>C)
c.90G>C
c.55G>C (p.Gly19Arg)
c.48G>C
2g.32064045G=CA1242461707SPASTc.214G= (p.Gly72=)
c.98G=
c.84G=
c.-45G= (n.-45G=)
c.90G=
c.55G= (p.Gly19=)
c.48G=
2g.32064045G>TCA346601728SPASTc.214G>T (p.Gly72Trp)
c.98G>T
c.84G>T
c.-45G>T (n.-45G>T)
c.90G>T
c.55G>T (p.Gly19Trp)
c.48G>T
 dbSNP gnomAD v3 gnomAD v4
2g.32064046G>ACA346601729SPASTc.215G>A (p.Gly72Glu)
c.99G>A
c.85G>A
c.-44G>A (n.-44G>A)
c.91G>A
c.56G>A (p.Gly19Glu)
c.49G>A
 gnomAD v4
2g.32064046G>CCA346601731SPASTc.215G>C (p.Gly72Ala)
c.99G>C
c.85G>C
c.-44G>C (n.-44G>C)
c.91G>C
c.56G>C (p.Gly19Ala)
c.49G>C
2g.32064046G>TCA346601732SPASTc.215G>T (p.Gly72Val)
c.99G>T
c.85G>T
c.-44G>T (n.-44G>T)
c.91G>T
c.56G>T (p.Gly19Val)
c.49G>T
2g.32064047G>ACA425627634SPASTc.216G>A (p.Gly72=)
c.100G>A
c.86G>A
c.-43G>A (n.-43G>A)
c.92G>A
c.57G>A (p.Gly19=)
c.50G>A
2g.32064047G>CCA425627637SPASTc.216G>C (p.Gly72=)
c.100G>C
c.86G>C
c.-43G>C (n.-43G>C)
c.92G>C
c.57G>C (p.Gly19=)
c.50G>C
2g.32064047G=CA1242461708SPASTc.216G= (p.Gly72=)
c.100G=
c.86G=
c.-43G= (n.-43G=)
c.92G=
c.57G= (p.Gly19=)
c.50G=
2g.32064047G>TCA425627640SPASTc.216G>T (p.Gly72=)
c.100G>T
c.86G>T
c.-43G>T (n.-43G>T)
c.92G>T
c.57G>T (p.Gly19=)
c.50G>T
 dbSNP gnomAD v4
2g.32064048delCA2658519898SPASTc.217del (p.Leu73SerfsTer?)
c.101del
c.87del
c.-42del (n.-42del)
c.93del
c.58del (p.Leu20SerfsTer?)
c.51del
 ClinVar gnomAD v4
2g.32064048C>ACA346601734SPASTc.217C>A (p.Leu73Ile)
c.101C>A
c.87C>A
c.-42C>A (n.-42C>A)
c.93C>A
c.58C>A (p.Leu20Ile)
c.51C>A
2g.32064048C=CA1242461709SPASTc.217C= (p.Leu73=)
c.101C=
c.87C=
c.-42C= (n.-42C=)
c.93C=
c.58C= (p.Leu20=)
c.51C=
2g.32064048C>GCA346601736SPASTc.217C>G (p.Leu73Val)
c.101C>G
c.87C>G
c.-42C>G (n.-42C>G)
c.93C>G
c.58C>G (p.Leu20Val)
c.51C>G
2g.32064048C>TCA1600520SPASTc.217C>T (p.Leu73Phe)
c.101C>T
c.87C>T
c.-42C>T (n.-42C>T)
c.93C>T
c.58C>T (p.Leu20Phe)
c.51C>T
 dbSNP ExAC gnomAD v2
2g.32064049T>ACA346601738SPASTc.218T>A (p.Leu73His)
c.102T>A
c.88T>A
c.-41T>A (n.-41T>A)
c.94T>A
c.59T>A (p.Leu20His)
c.52T>A
2g.32064049T>CCA346601739SPASTc.218T>C (p.Leu73Pro)
c.102T>C
c.88T>C
c.-41T>C (n.-41T>C)
c.94T>C
c.59T>C (p.Leu20Pro)
c.52T>C
2g.32064049T>GCA346601742SPASTc.218T>G (p.Leu73Arg)
c.102T>G
c.88T>G
c.-41T>G (n.-41T>G)
c.94T>G
c.59T>G (p.Leu20Arg)
c.52T>G
2g.32064050C>ACA1600522SPASTc.219C>A (p.Leu73=)
c.103C>A
c.89C>A
c.-40C>A (n.-40C>A)
c.95C>A
c.60C>A (p.Leu20=)
c.53C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064050C=CA1242461710SPASTc.219C= (p.Leu73=)
c.103C=
c.89C=
c.-40C= (n.-40C=)
c.95C=
c.60C= (p.Leu20=)
c.53C=
2g.32064050C>GCA425627654SPASTc.219C>G (p.Leu73=)
c.103C>G
c.89C>G
c.-40C>G (n.-40C>G)
c.95C>G
c.60C>G (p.Leu20=)
c.53C>G
2g.32064050C>TCA1600521SPASTc.219C>T (p.Leu73=)
c.103C>T
c.89C>T
c.-40C>T (n.-40C>T)
c.95C>T
c.60C>T (p.Leu20=)
c.53C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064050_32064051delCA2749388909SPASTc.219_220del (p.Phe75ArgfsTer?)
c.103_104del
c.89_90del
c.-40_-39del (n.-40_-39del)
c.95_96del
c.60_61del (p.Phe22ArgfsTer?)
c.53_54del
2g.32064051C>ACA346601748SPASTc.220C>A (p.Leu74Ile)
c.104C>A
c.90C>A
c.-39C>A (n.-39C>A)
c.96C>A
c.61C>A (p.Leu21Ile)
c.54C>A
2g.32064051C=CA1242461711SPASTc.220C= (p.Leu74=)
c.104C=
c.90C=
c.-39C= (n.-39C=)
c.96C=
c.61C= (p.Leu21=)
c.54C=
2g.32064051C>GCA346601751SPASTc.220C>G (p.Leu74Val)
c.104C>G
c.90C>G
c.-39C>G (n.-39C>G)
c.96C>G
c.61C>G (p.Leu21Val)
c.54C>G
2g.32064051C>TCA1600523SPASTc.220C>T (p.Leu74Phe)
c.104C>T
c.90C>T
c.-39C>T (n.-39C>T)
c.96C>T
c.61C>T (p.Leu21Phe)
c.54C>T
 dbSNP ExAC gnomAD v2
2g.32064052T>ACA346601757SPASTc.221T>A (p.Leu74His)
c.105T>A
c.91T>A
c.-38T>A (n.-38T>A)
c.97T>A
c.62T>A (p.Leu21His)
c.55T>A
2g.32064052T>CCA346601759SPASTc.221T>C (p.Leu74Pro)
c.105T>C
c.91T>C
c.-38T>C (n.-38T>C)
c.97T>C
c.62T>C (p.Leu21Pro)
c.55T>C
2g.32064052T>GCA346601762SPASTc.221T>G (p.Leu74Arg)
c.105T>G
c.91T>G
c.-38T>G (n.-38T>G)
c.97T>G
c.62T>G (p.Leu21Arg)
c.55T>G
2g.32064053C>ACA425627665SPASTc.222C>A (p.Leu74=)
c.106C>A
c.92C>A
c.-37C>A (n.-37C>A)
c.98C>A
c.63C>A (p.Leu21=)
c.56C>A
2g.32064053C=CA1242461712SPASTc.222C= (p.Leu74=)
c.106C=
c.92C=
c.-37C= (n.-37C=)
c.98C=
c.63C= (p.Leu21=)
c.56C=
2g.32064053C>GCA425627666SPASTc.222C>G (p.Leu74=)
c.106C>G
c.92C>G
c.-37C>G (n.-37C>G)
c.98C>G
c.63C>G (p.Leu21=)
c.56C>G
 dbSNP gnomAD v2 gnomAD v4
2g.32064053C>TCA1600524SPASTc.222C>T (p.Leu74=)
c.106C>T
c.92C>T
c.-37C>T (n.-37C>T)
c.98C>T
c.63C>T (p.Leu21=)
c.56C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064054T>ACA346601773SPASTc.223T>A (p.Phe75Ile)
c.107T>A
c.93T>A
c.-36T>A (n.-36T>A)
c.99T>A
c.64T>A (p.Phe22Ile)
c.57T>A
2g.32064054T>CCA346601767SPASTc.223T>C (p.Phe75Leu)
c.107T>C
c.93T>C
c.-36T>C (n.-36T>C)
c.99T>C
c.64T>C (p.Phe22Leu)
c.57T>C
 gnomAD v4
2g.32064054T>GCA346601770SPASTc.223T>G (p.Phe75Val)
c.107T>G
c.93T>G
c.-36T>G (n.-36T>G)
c.99T>G
c.64T>G (p.Phe22Val)
c.57T>G
2g.32064055T>ACA346601775SPASTc.224T>A (p.Phe75Tyr)
c.108T>A
c.94T>A
c.-35T>A (n.-35T>A)
c.100T>A
c.65T>A (p.Phe22Tyr)
c.58T>A
2g.32064055T>CCA346601777SPASTc.224T>C (p.Phe75Ser)
c.108T>C
c.94T>C
c.-35T>C (n.-35T>C)
c.100T>C
c.65T>C (p.Phe22Ser)
c.58T>C
2g.32064055T>GCA346601780SPASTc.224T>G (p.Phe75Cys)
c.108T>G
c.94T>G
c.-35T>G (n.-35T>G)
c.100T>G
c.65T>G (p.Phe22Cys)
c.58T>G
2g.32064056C>ACA45201396SPASTc.225C>A (p.Phe75Leu)
c.109C>A
c.95C>A
c.-34C>A (n.-34C>A)
c.101C>A
c.66C>A (p.Phe22Leu)
c.59C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064056C=CA1242461713SPASTc.225C= (p.Phe75=)
c.109C=
c.95C=
c.-34C= (n.-34C=)
c.101C=
c.66C= (p.Phe22=)
c.59C=
2g.32064056C>GCA346601783SPASTc.225C>G (p.Phe75Leu)
c.109C>G
c.95C>G
c.-34C>G (n.-34C>G)
c.101C>G
c.66C>G (p.Phe22Leu)
c.59C>G
 dbSNP gnomAD v4
2g.32064056C>TCA425627678SPASTc.225C>T (p.Phe75=)
c.109C>T
c.95C>T
c.-34C>T (n.-34C>T)
c.101C>T
c.66C>T (p.Phe22=)
c.59C>T
 COSMIC
2g.32064056_32064057insCACCA2580066383SPASTc.225_226insCAC (p.Phe75_Val76insHis)
c.109_110insCAC
c.95_96insCAC
c.-34_-33insCAC (n.-34_-33insCAC)
c.101_102insCAC
c.66_67insCAC (p.Phe22_Val23insHis)
c.59_60insCAC
 ClinVar
2g.32064057G>ACA346601786SPASTc.226G>A (p.Val76Met)
c.110G>A
c.96G>A
c.-33G>A (n.-33G>A)
c.102G>A
c.67G>A (p.Val23Met)
c.60G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32064057G>CCA346601793SPASTc.226G>C (p.Val76Leu)
c.110G>C
c.96G>C
c.-33G>C (n.-33G>C)
c.102G>C
c.67G>C (p.Val23Leu)
c.60G>C
2g.32064057G=CA1242461714SPASTc.226G= (p.Val76=)
c.110G=
c.96G=
c.-33G= (n.-33G=)
c.102G=
c.67G= (p.Val23=)
c.60G=
2g.32064057G>TCA1600525SPASTc.226G>T (p.Val76Leu)
c.110G>T
c.96G>T
c.-33G>T (n.-33G>T)
c.102G>T
c.67G>T (p.Val23Leu)
c.60G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064058T>ACA346601797SPASTc.227T>A (p.Val76Glu)
c.111T>A
c.97T>A
c.-32T>A (n.-32T>A)
c.103T>A
c.68T>A (p.Val23Glu)
c.61T>A
2g.32064058T>CCA346601799SPASTc.227T>C (p.Val76Ala)
c.111T>C
c.97T>C
c.-32T>C (n.-32T>C)
c.103T>C
c.68T>C (p.Val23Ala)
c.61T>C
2g.32064058T>GCA346601801SPASTc.227T>G (p.Val76Gly)
c.111T>G
c.97T>G
c.-32T>G (n.-32T>G)
c.103T>G
c.68T>G (p.Val23Gly)
c.61T>G
2g.32064059G>ACA425627689SPASTc.228G>A (p.Val76=)
c.112G>A
c.98G>A
c.-31G>A (n.-31G>A)
c.104G>A
c.69G>A (p.Val23=)
c.62G>A
2g.32064059G>CCA425627691SPASTc.228G>C (p.Val76=)
c.112G>C
c.98G>C
c.-31G>C (n.-31G>C)
c.104G>C
c.69G>C (p.Val23=)
c.62G>C
2g.32064059G>TCA425627694SPASTc.228G>T (p.Val76=)
c.112G>T
c.98G>T
c.-31G>T (n.-31G>T)
c.104G>T
c.69G>T (p.Val23=)
c.62G>T
2g.32064060T>ACA346601805SPASTc.229T>A (p.Trp77Arg)
c.113T>A
c.99T>A
c.-30T>A (n.-30T>A)
c.105T>A
c.70T>A (p.Trp24Arg)
c.63T>A
2g.32064060T>CCA346601806SPASTc.229T>C (p.Trp77Arg)
c.113T>C
c.99T>C
c.-30T>C (n.-30T>C)
c.105T>C
c.70T>C (p.Trp24Arg)
c.63T>C
 dbSNP gnomAD v4
2g.32064060T>GCA346601803SPASTc.229T>G (p.Trp77Gly)
c.113T>G
c.99T>G
c.-30T>G (n.-30T>G)
c.105T>G
c.70T>G (p.Trp24Gly)
c.63T>G
2g.32064060T=CA1242461715SPASTc.229T= (p.Trp77=)
c.113T=
c.99T=
c.-30T= (n.-30T=)
c.105T=
c.70T= (p.Trp24=)
c.63T=
2g.32064061G>ACA346601813SPASTc.230G>A (p.Trp77Ter)
c.114G>A
c.100G>A
c.-29G>A (n.-29G>A)
c.106G>A
c.71G>A (p.Trp24Ter)
c.64G>A
 dbSNP gnomAD v4
2g.32064061G>CCA346601808SPASTc.230G>C (p.Trp77Ser)
c.114G>C
c.100G>C
c.-29G>C (n.-29G>C)
c.106G>C
c.71G>C (p.Trp24Ser)
c.64G>C
 gnomAD v4
2g.32064061G=CA1242461716SPASTc.230G= (p.Trp77=)
c.114G=
c.100G=
c.-29G= (n.-29G=)
c.106G=
c.71G= (p.Trp24=)
c.64G=
2g.32064061G>TCA346601811SPASTc.230G>T (p.Trp77Leu)
c.114G>T
c.100G>T
c.-29G>T (n.-29G>T)
c.106G>T
c.71G>T (p.Trp24Leu)
c.64G>T
2g.32064062G>ACA346601815SPASTc.231G>A (p.Trp77Ter)
c.115G>A
c.101G>A
c.-28G>A (n.-28G>A)
c.107G>A
c.72G>A (p.Trp24Ter)
c.65G>A
2g.32064062G>CCA1600526SPASTc.231G>C (p.Trp77Cys)
c.115G>C
c.101G>C
c.-28G>C (n.-28G>C)
c.107G>C
c.72G>C (p.Trp24Cys)
c.65G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064062G=CA1242461717SPASTc.231G= (p.Trp77=)
c.115G=
c.101G=
c.-28G= (n.-28G=)
c.107G=
c.72G= (p.Trp24=)
c.65G=
2g.32064062G>TCA346601819SPASTc.231G>T (p.Trp77Cys)
c.115G>T
c.101G>T
c.-28G>T (n.-28G>T)
c.107G>T
c.72G>T (p.Trp24Cys)
c.65G>T
2g.32064063C>ACA346601822SPASTc.232C>A (p.Leu78Ile)
c.116C>A
c.102C>A
c.-27C>A (n.-27C>A)
c.108C>A
c.73C>A (p.Leu25Ile)
c.66C>A
2g.32064063C=CA1242461718SPASTc.232C= (p.Leu78=)
c.116C=
c.102C=
c.-27C= (n.-27C=)
c.108C=
c.73C= (p.Leu25=)
c.66C=
2g.32064063C>GCA346601824SPASTc.232C>G (p.Leu78Val)
c.116C>G
c.102C>G
c.-27C>G (n.-27C>G)
c.108C>G
c.73C>G (p.Leu25Val)
c.66C>G
 ClinVar dbSNP
2g.32064063C>TCA346601826SPASTc.232C>T (p.Leu78Phe)
c.116C>T
c.102C>T
c.-27C>T (n.-27C>T)
c.108C>T
c.73C>T (p.Leu25Phe)
c.66C>T
 gnomAD v4
2g.32064064T>ACA346601829SPASTc.233T>A (p.Leu78His)
c.117T>A
c.103T>A
c.-26T>A (n.-26T>A)
c.109T>A
c.74T>A (p.Leu25His)
c.67T>A
2g.32064064T>CCA346601830SPASTc.233T>C (p.Leu78Pro)
c.117T>C
c.103T>C
c.-26T>C (n.-26T>C)
c.109T>C
c.74T>C (p.Leu25Pro)
c.67T>C
2g.32064064T>GCA346601833SPASTc.233T>G (p.Leu78Arg)
c.117T>G
c.103T>G
c.-26T>G (n.-26T>G)
c.109T>G
c.74T>G (p.Leu25Arg)
c.67T>G
2g.32064065C>ACA425627717SPASTc.234C>A (p.Leu78=)
c.118C>A
c.104C>A
c.-25C>A (n.-25C>A)
c.110C>A
c.75C>A (p.Leu25=)
c.68C>A
 ClinVar
2g.32064065C=CA1242461719SPASTc.234C= (p.Leu78=)
c.118C=
c.104C=
c.-25C= (n.-25C=)
c.110C=
c.75C= (p.Leu25=)
c.68C=
2g.32064065C>GCA425627718SPASTc.234C>G (p.Leu78=)
c.118C>G
c.104C>G
c.-25C>G (n.-25C>G)
c.110C>G
c.75C>G (p.Leu25=)
c.68C>G
 ClinVar dbSNP gnomAD v4
2g.32064065C>TCA425627720SPASTc.234C>T (p.Leu78=)
c.118C>T
c.104C>T
c.-25C>T (n.-25C>T)
c.110C>T
c.75C>T (p.Leu25=)
c.68C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064066T>ACA346601838SPASTc.235T>A (p.Cys79Ser)
c.119T>A
c.105T>A
c.-24T>A (n.-24T>A)
c.111T>A
c.76T>A (p.Cys26Ser)
c.69T>A
2g.32064066T>CCA346601837SPASTc.235T>C (p.Cys79Arg)
c.119T>C
c.105T>C
c.-24T>C (n.-24T>C)
c.111T>C
c.76T>C (p.Cys26Arg)
c.69T>C
2g.32064066T>GCA346601836SPASTc.235T>G (p.Cys79Gly)
c.119T>G
c.105T>G
c.-24T>G (n.-24T>G)
c.111T>G
c.76T>G (p.Cys26Gly)
c.69T>G
2g.32064067G>ACA346601841SPASTc.236G>A (p.Cys79Tyr)
c.120G>A
c.106G>A
c.-23G>A (n.-23G>A)
c.112G>A
c.77G>A (p.Cys26Tyr)
c.70G>A
 dbSNP gnomAD v2
2g.32064067G>CCA346601843SPASTc.236G>C (p.Cys79Ser)
c.120G>C
c.106G>C
c.-23G>C (n.-23G>C)
c.112G>C
c.77G>C (p.Cys26Ser)
c.70G>C
2g.32064067G=CA1242461720SPASTc.236G= (p.Cys79=)
c.120G=
c.106G=
c.-23G= (n.-23G=)
c.112G=
c.77G= (p.Cys26=)
c.70G=
2g.32064067G>TCA346601844SPASTc.236G>T (p.Cys79Phe)
c.120G>T
c.106G>T
c.-23G>T (n.-23G>T)
c.112G>T
c.77G>T (p.Cys26Phe)
c.70G>T
2g.32064068C>ACA346601847SPASTc.237C>A (p.Cys79Ter)
c.121C>A
c.107C>A
c.-22C>A (n.-22C>A)
c.113C>A
c.78C>A (p.Cys26Ter)
c.71C>A
 ClinVar
2g.32064068C>GCA346601850SPASTc.237C>G (p.Cys79Trp)
c.121C>G
c.107C>G
c.-22C>G (n.-22C>G)
c.113C>G
c.78C>G (p.Cys26Trp)
c.71C>G
2g.32064068C>TCA425627733SPASTc.237C>T (p.Cys79=)
c.121C>T
c.107C>T
c.-22C>T (n.-22C>T)
c.113C>T
c.78C>T (p.Cys26=)
c.71C>T
 gnomAD v4
2g.32064069C>ACA346601853SPASTc.238C>A (p.Gln80Lys)
c.122C>A
c.108C>A
c.-21C>A (n.-21C>A)
c.114C>A
c.79C>A (p.Gln27Lys)
c.72C>A
2g.32064069C=CA1242461721SPASTc.238C= (p.Gln80=)
c.122C=
c.108C=
c.-21C= (n.-21C=)
c.114C=
c.79C= (p.Gln27=)
c.72C=
2g.32064069C>GCA346601855SPASTc.238C>G (p.Gln80Glu)
c.122C>G
c.108C>G
c.-21C>G (n.-21C>G)
c.114C>G
c.79C>G (p.Gln27Glu)
c.72C>G
2g.32064069C>TCA346601857SPASTc.238C>T (p.Gln80Ter)
c.122C>T
c.108C>T
c.-21C>T (n.-21C>T)
c.114C>T
c.79C>T (p.Gln27Ter)
c.72C>T
 ClinVar dbSNP
2g.32064070A>CCA346601861SPASTc.239A>C (p.Gln80Pro)
c.123A>C
c.109A>C
c.-20A>C (n.-20A>C)
c.115A>C
c.80A>C (p.Gln27Pro)
c.73A>C
2g.32064070A>GCA346601863SPASTc.239A>G (p.Gln80Arg)
c.123A>G
c.109A>G
c.-20A>G (n.-20A>G)
c.115A>G
c.80A>G (p.Gln27Arg)
c.73A>G
2g.32064070A>TCA346601866SPASTc.239A>T (p.Gln80Leu)
c.123A>T
c.109A>T
c.-20A>T (n.-20A>T)
c.115A>T
c.80A>T (p.Gln27Leu)
c.73A>T
2g.32064071G>ACA425627744SPASTc.240G>A (p.Gln80=)
c.124G>A
c.110G>A
c.-19G>A (n.-19G>A)
c.116G>A
c.81G>A (p.Gln27=)
c.74G>A
2g.32064071G>CCA346601867SPASTc.240G>C (p.Gln80His)
c.124G>C
c.110G>C
c.-19G>C (n.-19G>C)
c.116G>C
c.81G>C (p.Gln27His)
c.74G>C
 dbSNP
2g.32064071G=CA1242461722SPASTc.240G= (p.Gln80=)
c.124G=
c.110G=
c.-19G= (n.-19G=)
c.116G=
c.81G= (p.Gln27=)
c.74G=
2g.32064071G>TCA346601868SPASTc.240G>T (p.Gln80His)
c.124G>T
c.110G>T
c.-19G>T (n.-19G>T)
c.116G>T
c.81G>T (p.Gln27His)
c.74G>T
2g.32064072C>ACA346601873SPASTc.241C>A (p.Arg81Ser)
c.125C>A
c.111C>A
c.-18C>A (n.-18C>A)
c.117C>A
c.82C>A (p.Arg28Ser)
c.75C>A
2g.32064072C=CA1242461723SPASTc.241C= (p.Arg81=)
c.125C=
c.111C=
c.-18C= (n.-18C=)
c.117C=
c.82C= (p.Arg28=)
c.75C=
2g.32064072C>GCA346601875SPASTc.241C>G (p.Arg81Gly)
c.125C>G
c.111C>G
c.-18C>G (n.-18C>G)
c.117C>G
c.82C>G (p.Arg28Gly)
c.75C>G
2g.32064072C>TCA1600527SPASTc.241C>T (p.Arg81Cys)
c.125C>T
c.111C>T
c.-18C>T (n.-18C>T)
c.117C>T
c.82C>T (p.Arg28Cys)
c.75C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064073G>ACA346601878SPASTc.242G>A (p.Arg81His)
c.126G>A
c.112G>A
c.-17G>A (n.-17G>A)
c.118G>A
c.83G>A (p.Arg28His)
c.76G>A
2g.32064073G>CCA346601880SPASTc.242G>C (p.Arg81Pro)
c.126G>C
c.112G>C
c.-17G>C (n.-17G>C)
c.118G>C
c.83G>C (p.Arg28Pro)
c.76G>C
 gnomAD v4
2g.32064073G>TCA346601883SPASTc.242G>T (p.Arg81Leu)
c.126G>T
c.112G>T
c.-17G>T (n.-17G>T)
c.118G>T
c.83G>T (p.Arg28Leu)
c.76G>T
2g.32064074C>ACA425627752SPASTc.243C>A (p.Arg81=)
c.127C>A
c.113C>A
c.-16C>A (n.-16C>A)
c.119C>A
c.84C>A (p.Arg28=)
c.77C>A
 ClinVar
2g.32064074C=CA1242461724SPASTc.243C= (p.Arg81=)
c.127C=
c.113C=
c.-16C= (n.-16C=)
c.119C=
c.84C= (p.Arg28=)
c.77C=
2g.32064074C>GCA1600528SPASTc.243C>G (p.Arg81=)
c.127C>G
c.113C>G
c.-16C>G (n.-16C>G)
c.119C>G
c.84C>G (p.Arg28=)
c.77C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064074C>TCA425627751SPASTc.243C>T (p.Arg81=)
c.127C>T
c.113C>T
c.-16C>T (n.-16C>T)
c.119C>T
c.84C>T (p.Arg28=)
c.77C>T
 gnomAD v4
2g.32064075T>ACA346601887SPASTc.244T>A (p.Phe82Ile)
c.128T>A
c.114T>A
c.-15T>A (n.-15T>A)
c.120T>A
c.85T>A (p.Phe29Ile)
c.78T>A
2g.32064075T>CCA346601889SPASTc.244T>C (p.Phe82Leu)
c.128T>C
c.114T>C
c.-15T>C (n.-15T>C)
c.120T>C
c.85T>C (p.Phe29Leu)
c.78T>C
 ClinVar dbSNP
2g.32064075T>GCA346601893SPASTc.244T>G (p.Phe82Val)
c.128T>G
c.114T>G
c.-15T>G (n.-15T>G)
c.120T>G
c.85T>G (p.Phe29Val)
c.78T>G
2g.32064075T=CA1242461725SPASTc.244T= (p.Phe82=)
c.128T=
c.114T=
c.-15T= (n.-15T=)
c.120T=
c.85T= (p.Phe29=)
c.78T=
2g.32064076T>ACA346601895SPASTc.245T>A (p.Phe82Tyr)
c.129T>A
c.115T>A
c.-14T>A (n.-14T>A)
c.121T>A
c.86T>A (p.Phe29Tyr)
c.79T>A
2g.32064076T>CCA346601899SPASTc.245T>C (p.Phe82Ser)
c.129T>C
c.115T>C
c.-14T>C (n.-14T>C)
c.121T>C
c.86T>C (p.Phe29Ser)
c.79T>C
2g.32064076T>GCA346601897SPASTc.245T>G (p.Phe82Cys)
c.129T>G
c.115T>G
c.-14T>G (n.-14T>G)
c.121T>G
c.86T>G (p.Phe29Cys)
c.79T>G
2g.32064077C>ACA346601903SPASTc.246C>A (p.Phe82Leu)
c.130C>A
c.116C>A
c.-13C>A (n.-13C>A)
c.122C>A
c.87C>A (p.Phe29Leu)
c.80C>A
 gnomAD v4
2g.32064077C>GCA346601905SPASTc.246C>G (p.Phe82Leu)
c.130C>G
c.116C>G
c.-13C>G (n.-13C>G)
c.122C>G
c.87C>G (p.Phe29Leu)
c.80C>G
2g.32064077C>TCA425627766SPASTc.246C>T (p.Phe82=)
c.130C>T
c.116C>T
c.-13C>T (n.-13C>T)
c.122C>T
c.87C>T (p.Phe29=)
c.80C>T
2g.32064078T>ACA346601908SPASTc.247T>A (p.Ser83Thr)
c.131T>A
c.117T>A
c.-12T>A (n.-12T>A)
c.123T>A
c.88T>A (p.Ser30Thr)
c.81T>A
2g.32064078T>CCA346601910SPASTc.247T>C (p.Ser83Pro)
c.131T>C
c.117T>C
c.-12T>C (n.-12T>C)
c.123T>C
c.88T>C (p.Ser30Pro)
c.81T>C
 dbSNP
2g.32064078T>GCA346601913SPASTc.247T>G (p.Ser83Ala)
c.131T>G
c.117T>G
c.-12T>G (n.-12T>G)
c.123T>G
c.88T>G (p.Ser30Ala)
c.81T>G
2g.32064078T=CA1242461726SPASTc.247T= (p.Ser83=)
c.131T=
c.117T=
c.-12T= (n.-12T=)
c.123T=
c.88T= (p.Ser30=)
c.81T=
2g.32064079C>ACA346601915SPASTc.248C>A (p.Ser83Tyr)
c.132C>A
c.118C>A
c.-11C>A (n.-11C>A)
c.124C>A
c.89C>A (p.Ser30Tyr)
c.82C>A
 gnomAD v4
2g.32064079C>GCA346601921SPASTc.248C>G (p.Ser83Cys)
c.132C>G
c.118C>G
c.-11C>G (n.-11C>G)
c.124C>G
c.89C>G (p.Ser30Cys)
c.82C>G
2g.32064079C>TCA346601918SPASTc.248C>T (p.Ser83Phe)
c.132C>T
c.118C>T
c.-11C>T (n.-11C>T)
c.124C>T
c.89C>T (p.Ser30Phe)
c.82C>T
 gnomAD v4
2g.32064080C>ACA425627774SPASTc.249C>A (p.Ser83=)
c.133C>A
c.119C>A
c.-10C>A (n.-10C>A)
c.125C>A
c.90C>A (p.Ser30=)
c.83C>A
2g.32064080C>GCA425627775SPASTc.249C>G (p.Ser83=)
c.133C>G
c.119C>G
c.-10C>G (n.-10C>G)
c.125C>G
c.90C>G (p.Ser30=)
c.83C>G
2g.32064080C>TCA425627778SPASTc.249C>T (p.Ser83=)
c.133C>T
c.119C>T
c.-10C>T (n.-10C>T)
c.125C>T
c.90C>T (p.Ser30=)
c.83C>T
2g.32064081C>ACA346601922SPASTc.250C>A (p.Arg84Ser)
c.134C>A
c.120C>A
c.-9C>A (n.-9C>A)
c.126C>A
c.91C>A (p.Arg31Ser)
c.84C>A
2g.32064081C=CA1242461727SPASTc.250C= (p.Arg84=)
c.134C=
c.120C=
c.-9C= (n.-9C=)
c.126C=
c.91C= (p.Arg31=)
c.84C=
2g.32064081C>GCA1600530SPASTc.250C>G (p.Arg84Gly)
c.134C>G
c.120C>G
c.-9C>G (n.-9C>G)
c.126C>G
c.91C>G (p.Arg31Gly)
c.84C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064081C>TCA1600529SPASTc.250C>T (p.Arg84Cys)
c.134C>T
c.120C>T
c.-9C>T (n.-9C>T)
c.126C>T
c.91C>T (p.Arg31Cys)
c.84C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064082G>ACA346601926SPASTc.251G>A (p.Arg84His)
c.135G>A
c.121G>A
c.-8G>A (n.-8G>A)
c.127G>A
c.92G>A (p.Arg31His)
c.85G>A
 gnomAD v4
2g.32064082G>CCA346601929SPASTc.251G>C (p.Arg84Pro)
c.135G>C
c.121G>C
c.-8G>C (n.-8G>C)
c.127G>C
c.92G>C (p.Arg31Pro)
c.85G>C
 dbSNP gnomAD v2 gnomAD v4
2g.32064082G=CA1242461728SPASTc.251G= (p.Arg84=)
c.135G=
c.121G=
c.-8G= (n.-8G=)
c.127G=
c.92G= (p.Arg31=)
c.85G=
2g.32064082G>TCA346601930SPASTc.251G>T (p.Arg84Leu)
c.135G>T
c.121G>T
c.-8G>T (n.-8G>T)
c.127G>T
c.92G>T (p.Arg31Leu)
c.85G>T
 gnomAD v4
2g.32064083C>ACA425627790SPASTc.252C>A (p.Arg84=)
c.136C>A
c.122C>A
c.-7C>A (n.-7C>A)
c.128C>A
c.93C>A (p.Arg31=)
c.86C>A
2g.32064083C=CA1242461729SPASTc.252C= (p.Arg84=)
c.136C=
c.122C=
c.-7C= (n.-7C=)
c.128C=
c.93C= (p.Arg31=)
c.86C=
2g.32064083C>GCA425627791SPASTc.252C>G (p.Arg84=)
c.136C>G
c.122C>G
c.-7C>G (n.-7C>G)
c.128C>G
c.93C>G (p.Arg31=)
c.86C>G
 COSMIC
2g.32064083C>TCA425627793SPASTc.252C>T (p.Arg84=)
c.136C>T
c.122C>T
c.-7C>T (n.-7C>T)
c.128C>T
c.93C>T (p.Arg31=)
c.86C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064084G>ACA45201397SPASTc.253G>A (p.Ala85Thr)
c.137G>A
c.123G>A
c.-6G>A (n.-6G>A)
c.129G>A
c.94G>A (p.Ala32Thr)
c.87G>A
 dbSNP gnomAD v3 gnomAD v4
2g.32064084G>CCA346601935SPASTc.253G>C (p.Ala85Pro)
c.137G>C
c.123G>C
c.-6G>C (n.-6G>C)
c.129G>C
c.94G>C (p.Ala32Pro)
c.87G>C
2g.32064084G=CA1242461730SPASTc.253G= (p.Ala85=)
c.137G=
c.123G=
c.-6G= (n.-6G=)
c.129G=
c.94G= (p.Ala32=)
c.87G=
2g.32064084G>TCA346601953SPASTc.253G>T (p.Ala85Ser)
c.137G>T
c.123G>T
c.-6G>T (n.-6G>T)
c.129G>T
c.94G>T (p.Ala32Ser)
c.87G>T
 gnomAD v4
2g.32064085C>ACA346601956SPASTc.254C>A (p.Ala85Asp)
c.138C>A
c.124C>A
c.-5C>A (n.-5C>A)
c.130C>A
c.95C>A (p.Ala32Asp)
c.88C>A
2g.32064085C>GCA346601959SPASTc.254C>G (p.Ala85Gly)
c.138C>G
c.124C>G
c.-5C>G (n.-5C>G)
c.130C>G
c.95C>G (p.Ala32Gly)
c.88C>G
2g.32064085C>TCA346601962SPASTc.254C>T (p.Ala85Val)
c.138C>T
c.124C>T
c.-5C>T (n.-5C>T)
c.130C>T
c.95C>T (p.Ala32Val)
c.88C>T
2g.32064086C>ACA425627807SPASTc.255C>A (p.Ala85=)
c.139C>A
c.125C>A
c.-4C>A (n.-4C>A)
c.131C>A
c.96C>A (p.Ala32=)
c.89C>A
2g.32064086C=CA1242461731SPASTc.255C= (p.Ala85=)
c.139C=
c.125C=
c.-4C= (n.-4C=)
c.131C=
c.96C= (p.Ala32=)
c.89C=
2g.32064086C>GCA425627809SPASTc.255C>G (p.Ala85=)
c.139C>G
c.125C>G
c.-4C>G (n.-4C>G)
c.131C>G
c.96C>G (p.Ala32=)
c.89C>G
2g.32064086C>TCA425627811SPASTc.255C>T (p.Ala85=)
c.139C>T
c.125C>T
c.-4C>T (n.-4C>T)
c.131C>T
c.96C>T (p.Ala32=)
c.89C>T
 dbSNP gnomAD v2 gnomAD v4
2g.32064087C>ACA346601964SPASTc.256C>A (p.Leu86Ile)
c.140C>A
c.126C>A
c.-3C>A (n.-3C>A)
c.132C>A
c.97C>A (p.Leu33Ile)
c.90C>A
2g.32064087C=CA1242461732SPASTc.256C= (p.Leu86=)
c.140C=
c.126C=
c.-3C= (n.-3C=)
c.132C=
c.97C= (p.Leu33=)
c.90C=
2g.32064087C>GCA1600531SPASTc.256C>G (p.Leu86Val)
c.140C>G
c.126C>G
c.-3C>G (n.-3C>G)
c.132C>G
c.97C>G (p.Leu33Val)
c.90C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064087C>TCA1600532SPASTc.256C>T (p.Leu86Phe)
c.140C>T
c.126C>T
c.-3C>T (n.-3C>T)
c.132C>T
c.97C>T (p.Leu33Phe)
c.90C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064088T>ACA346601971SPASTc.257T>A (p.Leu86His)
c.141T>A
c.127T>A
c.-2T>A (n.-2T>A)
c.133T>A
c.98T>A (p.Leu33His)
c.91T>A
2g.32064088T>CCA346601974SPASTc.257T>C (p.Leu86Pro)
c.141T>C
c.127T>C
c.-2T>C (n.-2T>C)
c.133T>C
c.98T>C (p.Leu33Pro)
c.91T>C
2g.32064088T>GCA346601973SPASTc.257T>G (p.Leu86Arg)
c.141T>G
c.127T>G
c.-2T>G (n.-2T>G)
c.133T>G
c.98T>G (p.Leu33Arg)
c.91T>G
2g.32064089C>ACA425627825SPASTc.258C>A (p.Leu86=)
c.142C>A
c.128C>A
c.-1C>A (n.-1C>A)
c.134C>A
c.99C>A (p.Leu33=)
c.92C>A
2g.32064089C>GCA425627827SPASTc.258C>G (p.Leu86=)
c.142C>G
c.128C>G
c.-1C>G (n.-1C>G)
c.134C>G
c.99C>G (p.Leu33=)
c.92C>G
 gnomAD v4
2g.32064089C>TCA425627828SPASTc.258C>T (p.Leu86=)
c.142C>T
c.128C>T
c.-1C>T (n.-1C>T)
c.134C>T
c.99C>T (p.Leu33=)
c.92C>T
 gnomAD v4
2g.32064090A=CA1242461733SPASTc.259A= (p.Met87=)
c.143A=
c.129A=
c.1A= (p.Met1=)
c.135A=
c.100A= (p.Met34=)
c.93A=
2g.32064090A>CCA346601977SPASTc.259A>C (p.Met87Leu)
c.143A>C
c.129A>C
c.1A>C (p.Met1Leu)
c.135A>C
c.100A>C (p.Met34Leu)
c.93A>C
 gnomAD v4
2g.32064090A>GCA346601982SPASTc.259A>G (p.Met87Val)
c.143A>G
c.129A>G
c.1A>G (p.Met1Val)
c.135A>G
c.100A>G (p.Met34Val)
c.93A>G
 dbSNP gnomAD v4
2g.32064090A>TCA346601979SPASTc.259A>T (p.Met87Leu)
c.143A>T
c.129A>T
c.1A>T (p.Met1Leu)
c.135A>T
c.100A>T (p.Met34Leu)
c.93A>T
2g.32064090_32064091delCA2573134599SPASTc.259_260del (p.Met87GlyfsTer?)
c.143_144del
c.129_130del
c.1_2del (p.Met1GlyfsTer?)
c.135_136del
c.100_101del (p.Met34GlyfsTer?)
c.93_94del
 ClinVar dbSNP
2g.32064091T>ACA346601985SPASTc.260T>A (p.Met87Lys)
c.144T>A
c.130T>A
c.2T>A (p.Met1Lys)
c.136T>A
c.101T>A (p.Met34Lys)
c.94T>A
 dbSNP gnomAD v3 gnomAD v4
2g.32064091T>CCA346601986SPASTc.260T>C (p.Met87Thr)
c.144T>C
c.130T>C
c.2T>C (p.Met1Thr)
c.136T>C
c.101T>C (p.Met34Thr)
c.94T>C
2g.32064091T>GCA346601989SPASTc.260T>G (p.Met87Arg)
c.144T>G
c.130T>G
c.2T>G (p.Met1Arg)
c.136T>G
c.101T>G (p.Met34Arg)
c.94T>G
 gnomAD v4
2g.32064091T=CA1242461734SPASTc.260T= (p.Met87=)
c.144T=
c.130T=
c.2T= (p.Met1=)
c.136T=
c.101T= (p.Met34=)
c.94T=
2g.32064092G>ACA346601993SPASTc.261G>A (p.Met87Ile)
c.145G>A
c.131G>A
c.3G>A (p.Met1Ile)
c.137G>A
c.102G>A (p.Met34Ile)
c.95G>A
 COSMIC
2g.32064092G>CCA346601995SPASTc.261G>C (p.Met87Ile)
c.145G>C
c.131G>C
c.3G>C (p.Met1Ile)
c.137G>C
c.102G>C (p.Met34Ile)
c.95G>C
2g.32064092G>TCA346601997SPASTc.261G>T (p.Met87Ile)
c.145G>T
c.131G>T
c.3G>T (p.Met1Ile)
c.137G>T
c.102G>T (p.Met34Ile)
c.95G>T
2g.32064093G>ACA346602000SPASTc.262G>A (p.Ala88Thr)
c.146G>A
c.132G>A
c.4G>A (p.Ala2Thr)
c.138G>A
c.103G>A (p.Ala35Thr)
c.96G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064093G>CCA346602003SPASTc.262G>C (p.Ala88Pro)
c.146G>C
c.132G>C
c.4G>C (p.Ala2Pro)
c.138G>C
c.103G>C (p.Ala35Pro)
c.96G>C
2g.32064093G=CA1242461735SPASTc.262G= (p.Ala88=)
c.146G=
c.132G=
c.4G= (p.Ala2=)
c.138G=
c.103G= (p.Ala35=)
c.96G=
2g.32064093G>TCA346602005SPASTc.262G>T (p.Ala88Ser)
c.146G>T
c.132G>T
c.4G>T (p.Ala2Ser)
c.138G>T
c.103G>T (p.Ala35Ser)
c.96G>T
 gnomAD v4
2g.32064094C>ACA45201398SPASTc.263C>A (p.Ala88Glu)
c.147C>A
c.133C>A
c.5C>A (p.Ala2Glu)
c.139C>A
c.104C>A (p.Ala35Glu)
c.97C>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064094C=CA1242461736SPASTc.263C= (p.Ala88=)
c.147C=
c.133C=
c.5C= (p.Ala2=)
c.139C=
c.104C= (p.Ala35=)
c.97C=
2g.32064094C>GCA346602009SPASTc.263C>G (p.Ala88Gly)
c.147C>G
c.133C>G
c.5C>G (p.Ala2Gly)
c.139C>G
c.104C>G (p.Ala35Gly)
c.97C>G
2g.32064094C>TCA346602012SPASTc.263C>T (p.Ala88Val)
c.147C>T
c.133C>T
c.5C>T (p.Ala2Val)
c.139C>T
c.104C>T (p.Ala35Val)
c.97C>T
2g.32064095A>CCA425627850SPASTc.264A>C (p.Ala88=)
c.148A>C
c.134A>C
c.6A>C (p.Ala2=)
c.140A>C
c.105A>C (p.Ala35=)
c.98A>C
2g.32064095A>GCA425627852SPASTc.264A>G (p.Ala88=)
c.148A>G
c.134A>G
c.6A>G (p.Ala2=)
c.140A>G
c.105A>G (p.Ala35=)
c.98A>G
2g.32064095A>TCA425627854SPASTc.264A>T (p.Ala88=)
c.148A>T
c.134A>T
c.6A>T (p.Ala2=)
c.140A>T
c.105A>T (p.Ala35=)
c.98A>T
2g.32064096G>ACA1600533SPASTc.265G>A (p.Ala89Thr)
c.149G>A
c.135G>A
c.7G>A (p.Ala3Thr)
c.141G>A
c.106G>A (p.Ala36Thr)
c.99G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064096G>CCA346602017SPASTc.265G>C (p.Ala89Pro)
c.149G>C
c.135G>C
c.7G>C (p.Ala3Pro)
c.141G>C
c.106G>C (p.Ala36Pro)
c.99G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064096G=CA1242461737SPASTc.265G= (p.Ala89=)
c.149G=
c.135G=
c.7G= (p.Ala3=)
c.141G=
c.106G= (p.Ala36=)
c.99G=
2g.32064096G>TCA346602016SPASTc.265G>T (p.Ala89Ser)
c.149G>T
c.135G>T
c.7G>T (p.Ala3Ser)
c.141G>T
c.106G>T (p.Ala36Ser)
c.99G>T
2g.32064097C>ACA346602021SPASTc.266C>A (p.Ala89Asp)
c.150C>A
c.136C>A
c.8C>A (p.Ala3Asp)
c.142C>A
c.107C>A (p.Ala36Asp)
c.100C>A
2g.32064097C>GCA346602023SPASTc.266C>G (p.Ala89Gly)
c.150C>G
c.136C>G
c.8C>G (p.Ala3Gly)
c.142C>G
c.107C>G (p.Ala36Gly)
c.100C>G
2g.32064097C>TCA346602025SPASTc.266C>T (p.Ala89Val)
c.150C>T
c.136C>T
c.8C>T (p.Ala3Val)
c.142C>T
c.107C>T (p.Ala36Val)
c.100C>T
 gnomAD v4
2g.32064098dupCA1139656820SPASTc.267dup (p.Lys90GlnfsTer?)
c.151dup
c.137dup
c.9dup (p.Lys4GlnfsTer?)
c.143dup
c.108dup (p.Lys37GlnfsTer?)
c.101dup
 ClinVar dbSNP
2g.32064098C>ACA425627859SPASTc.267C>A (p.Ala89=)
c.151C>A
c.137C>A
c.9C>A (p.Ala3=)
c.143C>A
c.108C>A (p.Ala36=)
c.101C>A
2g.32064098C=CA1242461738SPASTc.267C= (p.Ala89=)
c.151C=
c.137C=
c.9C= (p.Ala3=)
c.143C=
c.108C= (p.Ala36=)
c.101C=
2g.32064098C>GCA425627860SPASTc.267C>G (p.Ala89=)
c.151C>G
c.137C>G
c.9C>G (p.Ala3=)
c.143C>G
c.108C>G (p.Ala36=)
c.101C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064098C>TCA425627862SPASTc.267C>T (p.Ala89=)
c.151C>T
c.137C>T
c.9C>T (p.Ala3=)
c.143C>T
c.108C>T (p.Ala36=)
c.101C>T
2g.32064099A>CCA346602028SPASTc.268A>C (p.Lys90Gln)
c.152A>C
c.138A>C
c.10A>C (p.Lys4Gln)
c.144A>C
c.109A>C (p.Lys37Gln)
c.102A>C
 gnomAD v4
2g.32064099A>GCA346602030SPASTc.268A>G (p.Lys90Glu)
c.152A>G
c.138A>G
c.10A>G (p.Lys4Glu)
c.144A>G
c.109A>G (p.Lys37Glu)
c.102A>G
 gnomAD v4
2g.32064099A>TCA346602031SPASTc.268A>T (p.Lys90Ter)
c.152A>T
c.138A>T
c.10A>T (p.Lys4Ter)
c.144A>T
c.109A>T (p.Lys37Ter)
c.102A>T
2g.32064100A=CA1242461739SPASTc.269A= (p.Lys90=)
c.153A=
c.139A=
c.11A= (p.Lys4=)
c.145A=
c.110A= (p.Lys37=)
c.103A=
2g.32064100A>CCA346602034SPASTc.269A>C (p.Lys90Thr)
c.153A>C
c.139A>C
c.11A>C (p.Lys4Thr)
c.145A>C
c.110A>C (p.Lys37Thr)
c.103A>C
2g.32064100A>GCA1600534SPASTc.269A>G (p.Lys90Arg)
c.153A>G
c.139A>G
c.11A>G (p.Lys4Arg)
c.145A>G
c.110A>G (p.Lys37Arg)
c.103A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064100A>TCA346602038SPASTc.269A>T (p.Lys90Met)
c.153A>T
c.139A>T
c.11A>T (p.Lys4Met)
c.145A>T
c.110A>T (p.Lys37Met)
c.103A>T
2g.32064101G>ACA45201399SPASTc.270G>A (p.Lys90=)
c.154G>A
c.140G>A
c.12G>A (p.Lys4=)
c.146G>A
c.111G>A (p.Lys37=)
c.104G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064101G>CCA346602040SPASTc.270G>C (p.Lys90Asn)
c.154G>C
c.140G>C
c.12G>C (p.Lys4Asn)
c.146G>C
c.111G>C (p.Lys37Asn)
c.104G>C
2g.32064101G=CA1242461740SPASTc.270G= (p.Lys90=)
c.154G=
c.140G=
c.12G= (p.Lys4=)
c.146G=
c.111G= (p.Lys37=)
c.104G=
2g.32064101G>TCA346602042SPASTc.270G>T (p.Lys90Asn)
c.154G>T
c.140G>T
c.12G>T (p.Lys4Asn)
c.146G>T
c.111G>T (p.Lys37Asn)
c.104G>T
2g.32064102A>CCA425627876SPASTc.271A>C (p.Arg91=)
c.155A>C
c.141A>C
c.13A>C (p.Arg5=)
c.147A>C
c.112A>C (p.Arg38=)
c.105A>C
 gnomAD v4
2g.32064102A>GCA346602045SPASTc.271A>G (p.Arg91Gly)
c.155A>G
c.141A>G
c.13A>G (p.Arg5Gly)
c.147A>G
c.112A>G (p.Arg38Gly)
c.105A>G
 gnomAD v4
2g.32064102A>TCA346602048SPASTc.271A>T (p.Arg91Trp)
c.155A>T
c.141A>T
c.13A>T (p.Arg5Trp)
c.147A>T
c.112A>T (p.Arg38Trp)
c.105A>T
2g.32064103G>ACA346602052SPASTc.272G>A (p.Arg91Lys)
c.156G>A
c.142G>A
c.14G>A (p.Arg5Lys)
c.148G>A
c.113G>A (p.Arg38Lys)
c.106G>A
2g.32064103G>CCA346602054SPASTc.272G>C (p.Arg91Thr)
c.156G>C
c.142G>C
c.14G>C (p.Arg5Thr)
c.148G>C
c.113G>C (p.Arg38Thr)
c.106G>C
 dbSNP
2g.32064103G=CA1242461741SPASTc.272G= (p.Arg91=)
c.156G=
c.142G=
c.14G= (p.Arg5=)
c.148G=
c.113G= (p.Arg38=)
c.106G=
2g.32064103G>TCA346602050SPASTc.272G>T (p.Arg91Met)
c.156G>T
c.142G>T
c.14G>T (p.Arg5Met)
c.148G>T
c.113G>T (p.Arg38Met)
c.106G>T
2g.32064104G>ACA425627887SPASTc.273G>A (p.Arg91=)
c.157G>A
c.143G>A
c.15G>A (p.Arg5=)
c.149G>A
c.114G>A (p.Arg38=)
c.107G>A
2g.32064104G>CCA346602059SPASTc.273G>C (p.Arg91Ser)
c.157G>C
c.143G>C
c.15G>C (p.Arg5Ser)
c.149G>C
c.114G>C (p.Arg38Ser)
c.107G>C
2g.32064104G>TCA346602060SPASTc.273G>T (p.Arg91Ser)
c.157G>T
c.143G>T
c.15G>T (p.Arg5Ser)
c.149G>T
c.114G>T (p.Arg38Ser)
c.107G>T
2g.32064105A>CCA346602063SPASTc.274A>C (p.Ser92Arg)
c.158A>C
c.144A>C
c.16A>C (p.Ser6Arg)
c.150A>C
c.115A>C (p.Ser39Arg)
c.108A>C
 gnomAD v4
2g.32064105A>GCA346602065SPASTc.274A>G (p.Ser92Gly)
c.158A>G
c.144A>G
c.16A>G (p.Ser6Gly)
c.150A>G
c.115A>G (p.Ser39Gly)
c.108A>G
2g.32064105A>TCA346602067SPASTc.274A>T (p.Ser92Cys)
c.158A>T
c.144A>T
c.16A>T (p.Ser6Cys)
c.150A>T
c.115A>T (p.Ser39Cys)
c.108A>T
2g.32064106G>ACA346602070SPASTc.275G>A (p.Ser92Asn)
c.159G>A
c.145G>A
c.17G>A (p.Ser6Asn)
c.151G>A
c.116G>A (p.Ser39Asn)
c.109G>A
2g.32064106G>CCA346602073SPASTc.275G>C (p.Ser92Thr)
c.159G>C
c.145G>C
c.17G>C (p.Ser6Thr)
c.151G>C
c.116G>C (p.Ser39Thr)
c.109G>C
 gnomAD v4
2g.32064106G>TCA346602074SPASTc.275G>T (p.Ser92Ile)
c.159G>T
c.145G>T
c.17G>T (p.Ser6Ile)
c.151G>T
c.116G>T (p.Ser39Ile)
c.109G>T
2g.32064107C>ACA45201400SPASTc.276C>A (p.Ser92Arg)
c.160C>A
c.146C>A
c.18C>A (p.Ser6Arg)
c.152C>A
c.117C>A (p.Ser39Arg)
c.110C>A
 dbSNP gnomAD v4
2g.32064107C=CA1242461742SPASTc.276C= (p.Ser92=)
c.160C=
c.146C=
c.18C= (p.Ser6=)
c.152C=
c.117C= (p.Ser39=)
c.110C=
2g.32064107C>GCA346602079SPASTc.276C>G (p.Ser92Arg)
c.160C>G
c.146C>G
c.18C>G (p.Ser6Arg)
c.152C>G
c.117C>G (p.Ser39Arg)
c.110C>G
2g.32064107C>TCA425627903SPASTc.276C>T (p.Ser92=)
c.160C>T
c.146C>T
c.18C>T (p.Ser6=)
c.152C>T
c.117C>T (p.Ser39=)
c.110C>T
2g.32064108T>ACA346602084SPASTc.277T>A (p.Ser93Thr)
c.161T>A
c.147T>A
c.19T>A (p.Ser7Thr)
c.153T>A
c.118T>A (p.Ser40Thr)
c.111T>A
2g.32064108T>CCA346602082SPASTc.277T>C (p.Ser93Pro)
c.161T>C
c.147T>C
c.19T>C (p.Ser7Pro)
c.153T>C
c.118T>C (p.Ser40Pro)
c.111T>C
 ClinVar dbSNP gnomAD v4
2g.32064108T>GCA346602080SPASTc.277T>G (p.Ser93Ala)
c.161T>G
c.147T>G
c.19T>G (p.Ser7Ala)
c.153T>G
c.118T>G (p.Ser40Ala)
c.111T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064108T=CA1242461743SPASTc.277T= (p.Ser93=)
c.161T=
c.147T=
c.19T= (p.Ser7=)
c.153T=
c.118T= (p.Ser40=)
c.111T=
2g.32064109C>ACA346602087SPASTc.278C>A (p.Ser93Tyr)
c.162C>A
c.148C>A
c.20C>A (p.Ser7Tyr)
c.154C>A
c.119C>A (p.Ser40Tyr)
c.112C>A
 dbSNP gnomAD v4
2g.32064109C=CA1242461744SPASTc.278C= (p.Ser93=)
c.162C=
c.148C=
c.20C= (p.Ser7=)
c.154C=
c.119C= (p.Ser40=)
c.112C=
2g.32064109C>GCA346602089SPASTc.278C>G (p.Ser93Cys)
c.162C>G
c.148C>G
c.20C>G (p.Ser7Cys)
c.154C>G
c.119C>G (p.Ser40Cys)
c.112C>G
2g.32064109C>TCA346602091SPASTc.278C>T (p.Ser93Phe)
c.162C>T
c.148C>T
c.20C>T (p.Ser7Phe)
c.154C>T
c.119C>T (p.Ser40Phe)
c.112C>T
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.32064110C>ACA425627920SPASTc.279C>A (p.Ser93=)
c.163C>A
c.149C>A
c.21C>A (p.Ser7=)
c.155C>A
c.120C>A (p.Ser40=)
c.113C>A
2g.32064110C=CA1242461745SPASTc.279C= (p.Ser93=)
c.163C=
c.149C=
c.21C= (p.Ser7=)
c.155C=
c.120C= (p.Ser40=)
c.113C=
2g.32064110C>GCA425627921SPASTc.279C>G (p.Ser93=)
c.163C>G
c.149C>G
c.21C>G (p.Ser7=)
c.155C>G
c.120C>G (p.Ser40=)
c.113C>G
 dbSNP gnomAD v4
2g.32064110C>TCA425627922SPASTc.279C>T (p.Ser93=)
c.163C>T
c.149C>T
c.21C>T (p.Ser7=)
c.155C>T
c.120C>T (p.Ser40=)
c.113C>T
2g.32064111G>ACA1600535SPASTc.280G>A (p.Gly94Arg)
c.164G>A
c.150G>A
c.22G>A (p.Gly8Arg)
c.156G>A
c.121G>A (p.Gly41Arg)
c.114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064111G>CCA45201401SPASTc.280G>C (p.Gly94Arg)
c.164G>C
c.150G>C
c.22G>C (p.Gly8Arg)
c.156G>C
c.121G>C (p.Gly41Arg)
c.114G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064111G=CA1242461746SPASTc.280G= (p.Gly94=)
c.164G=
c.150G=
c.22G= (p.Gly8=)
c.156G=
c.121G= (p.Gly41=)
c.114G=
2g.32064111G>TCA346602096SPASTc.280G>T (p.Gly94Trp)
c.164G>T
c.150G>T
c.22G>T (p.Gly8Trp)
c.156G>T
c.121G>T (p.Gly41Trp)
c.114G>T
2g.32064114dupCA2586968940SPASTc.283dup (p.Ala95GlyfsTer?)
c.167dup
c.153dup
c.25dup (p.Ala9GlyfsTer?)
c.159dup
c.124dup (p.Ala42GlyfsTer?)
c.117dup
2g.32064114delCA2586968941SPASTc.283del (p.Ala95ProfsTer?)
c.167del
c.153del
c.25del (p.Ala9ProfsTer?)
c.159del
c.124del (p.Ala42ProfsTer?)
c.117del
2g.32064112G>ACA1600536SPASTc.281G>A (p.Gly94Glu)
c.165G>A
c.151G>A
c.23G>A (p.Gly8Glu)
c.157G>A
c.122G>A (p.Gly41Glu)
c.115G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32064112G>CCA346602097SPASTc.281G>C (p.Gly94Ala)
c.165G>C
c.151G>C
c.23G>C (p.Gly8Ala)
c.157G>C
c.122G>C (p.Gly41Ala)
c.115G>C
2g.32064112G=CA1242461747SPASTc.281G= (p.Gly94=)
c.165G=
c.151G=
c.23G= (p.Gly8=)
c.157G=
c.122G= (p.Gly41=)
c.115G=
2g.32064112G>TCA346602099SPASTc.281G>T (p.Gly94Val)
c.165G>T
c.151G>T
c.23G>T (p.Gly8Val)
c.157G>T
c.122G>T (p.Gly41Val)
c.115G>T
2g.32064113G>ACA425627933SPASTc.282G>A (p.Gly94=)
c.166G>A
c.152G>A
c.24G>A (p.Gly8=)
c.158G>A
c.123G>A (p.Gly41=)
c.116G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064113G>CCA425627937SPASTc.282G>C (p.Gly94=)
c.166G>C
c.152G>C
c.24G>C (p.Gly8=)
c.158G>C
c.123G>C (p.Gly41=)
c.116G>C
2g.32064113G=CA1242461748SPASTc.282G= (p.Gly94=)
c.166G=
c.152G=
c.24G= (p.Gly8=)
c.158G=
c.123G= (p.Gly41=)
c.116G=
2g.32064113G>TCA425627944SPASTc.282G>T (p.Gly94=)
c.166G>T
c.152G>T
c.24G>T (p.Gly8=)
c.158G>T
c.123G>T (p.Gly41=)
c.116G>T
2g.32064114G>ACA346602102SPASTc.283G>A (p.Ala95Thr)
c.167G>A
c.153G>A
c.25G>A (p.Ala9Thr)
c.159G>A
c.124G>A (p.Ala42Thr)
c.117G>A
 dbSNP gnomAD v2 gnomAD v4
2g.32064114G>CCA346602103SPASTc.283G>C (p.Ala95Pro)
c.167G>C
c.153G>C
c.25G>C (p.Ala9Pro)
c.159G>C
c.124G>C (p.Ala42Pro)
c.117G>C
 gnomAD v4
2g.32064114G=CA1242461749SPASTc.283G= (p.Ala95=)
c.167G=
c.153G=
c.25G= (p.Ala9=)
c.159G=
c.124G= (p.Ala42=)
c.117G=
2g.32064114G>TCA346602106SPASTc.283G>T (p.Ala95Ser)
c.167G>T
c.153G>T
c.25G>T (p.Ala9Ser)
c.159G>T
c.124G>T (p.Ala42Ser)
c.117G>T
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.32064115C>ACA346602109SPASTc.284C>A (p.Ala95Asp)
c.168C>A
c.154C>A
c.26C>A (p.Ala9Asp)
c.160C>A
c.125C>A (p.Ala42Asp)
c.118C>A
2g.32064115C=CA1242461750SPASTc.284C= (p.Ala95=)
c.168C=
c.154C=
c.26C= (p.Ala9=)
c.160C=
c.125C= (p.Ala42=)
c.118C=
2g.32064115C>GCA1600537SPASTc.284C>G (p.Ala95Gly)
c.168C>G
c.154C>G
c.26C>G (p.Ala9Gly)
c.160C>G
c.125C>G (p.Ala42Gly)
c.118C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064115C>TCA1600538SPASTc.284C>T (p.Ala95Val)
c.168C>T
c.154C>T
c.26C>T (p.Ala9Val)
c.160C>T
c.125C>T (p.Ala42Val)
c.118C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064116delCA2586968943SPASTc.285del (p.Ala96ArgfsTer?)
c.169del
c.155del
c.27del (p.Ala10ArgfsTer?)
c.161del
c.126del (p.Ala43ArgfsTer?)
c.119del
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.32064116C>ACA425627961SPASTc.285C>A (p.Ala95=)
c.169C>A
c.155C>A
c.27C>A (p.Ala9=)
c.161C>A
c.126C>A (p.Ala42=)
c.119C>A
2g.32064116C=CA1242461751SPASTc.285C= (p.Ala95=)
c.169C=
c.155C=
c.27C= (p.Ala9=)
c.161C=
c.126C= (p.Ala42=)
c.119C=
2g.32064116C>GCA1600539SPASTc.285C>G (p.Ala95=)
c.169C>G
c.155C>G
c.27C>G (p.Ala9=)
c.161C>G
c.126C>G (p.Ala42=)
c.119C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064116C>TCA45201402SPASTc.285C>T (p.Ala95=)
c.169C>T
c.155C>T
c.27C>T (p.Ala9=)
c.161C>T
c.126C>T (p.Ala42=)
c.119C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064116_32064117delinsCGCA1242461752SPASTc.285_286delinsCG (p.Ala95=)
c.169_170delinsCG
c.155_156delinsCG
c.27_28delinsCG (p.Ala9=)
c.161_162delinsCG
c.126_127delinsCG (p.Ala42=)
c.119_120delinsCG
2g.32064117delCA915943913SPASTc.286del (p.Ala96ArgfsTer?)
c.170del
c.156del
c.28del (p.Ala10ArgfsTer?)
c.162del
c.127del (p.Ala43ArgfsTer?)
c.120del
 ClinVar dbSNP
2g.32064117G>ACA346602114SPASTc.286G>A (p.Ala96Thr)
c.170G>A
c.156G>A
c.28G>A (p.Ala10Thr)
c.162G>A
c.127G>A (p.Ala43Thr)
c.120G>A
2g.32064117G>CCA346602116SPASTc.286G>C (p.Ala96Pro)
c.170G>C
c.156G>C
c.28G>C (p.Ala10Pro)
c.162G>C
c.127G>C (p.Ala43Pro)
c.120G>C
2g.32064117G>TCA346602120SPASTc.286G>T (p.Ala96Ser)
c.170G>T
c.156G>T
c.28G>T (p.Ala10Ser)
c.162G>T
c.127G>T (p.Ala43Ser)
c.120G>T
2g.32064118C>ACA346602127SPASTc.287C>A (p.Ala96Glu)
c.171C>A
c.157C>A
c.29C>A (p.Ala10Glu)
c.163C>A
c.128C>A (p.Ala43Glu)
c.121C>A
 gnomAD v4
2g.32064118C>GCA346602124SPASTc.287C>G (p.Ala96Gly)
c.171C>G
c.157C>G
c.29C>G (p.Ala10Gly)
c.163C>G
c.128C>G (p.Ala43Gly)
c.121C>G
 gnomAD v4
2g.32064118C>TCA346602123SPASTc.287C>T (p.Ala96Val)
c.171C>T
c.157C>T
c.29C>T (p.Ala10Val)
c.163C>T
c.128C>T (p.Ala43Val)
c.121C>T
2g.32064119G>ACA425627975SPASTc.288G>A (p.Ala96=)
c.172G>A
c.158G>A
c.30G>A (p.Ala10=)
c.164G>A
c.129G>A (p.Ala43=)
c.122G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32064119G>CCA425627976SPASTc.288G>C (p.Ala96=)
c.172G>C
c.158G>C
c.30G>C (p.Ala10=)
c.164G>C
c.129G>C (p.Ala43=)
c.122G>C
 gnomAD v4
2g.32064119G=CA1242461753SPASTc.288G= (p.Ala96=)
c.172G=
c.158G=
c.30G= (p.Ala10=)
c.164G=
c.129G= (p.Ala43=)
c.122G=
2g.32064119G>TCA425627978SPASTc.288G>T (p.Ala96=)
c.172G>T
c.158G>T
c.30G>T (p.Ala10=)
c.164G>T
c.129G>T (p.Ala43=)
c.122G>T
 dbSNP gnomAD v3 gnomAD v4
2g.32064120C>ACA349578SPASTc.289C>A (p.Pro97Thr)
c.173C>A
c.159C>A
c.31C>A (p.Pro11Thr)
c.165C>A
c.130C>A (p.Pro44Thr)
c.123C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32064120C=CA1242461754SPASTc.289C= (p.Pro97=)
c.173C=
c.159C=
c.31C= (p.Pro11=)
c.165C=
c.130C= (p.Pro44=)
c.123C=
2g.32064120C>GCA346602130SPASTc.289C>G (p.Pro97Ala)
c.173C>G
c.159C>G
c.31C>G (p.Pro11Ala)
c.165C>G
c.130C>G (p.Pro44Ala)
c.123C>G
 gnomAD v4
2g.32064120C>TCA346602133SPASTc.289C>T (p.Pro97Ser)
c.173C>T
c.159C>T
c.31C>T (p.Pro11Ser)
c.165C>T
c.130C>T (p.Pro44Ser)
c.123C>T
 dbSNP gnomAD v2 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

Number of alleles fetched