Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.32063148_32067182del | CA339677 | ClinVar | ||
2 | g.32063720_32066025del | CA325517 | SPAST | c.-112_446del c.-112_415+1779del | ClinVar |
2 | g.32064038_32064053dup | CA2739274304 | SPAST | c.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 |
2 | g.32064052T>A | CA346601757 | SPAST | c.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 | |
2 | g.32064052T>C | CA346601759 | SPAST | c.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 | |
2 | g.32064052T>G | CA346601762 | SPAST | c.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 | |
2 | g.32064053C>A | CA425627665 | SPAST | c.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 | |
2 | g.32064053C= | CA1242461712 | SPAST | c.222C= (p.Leu74=) c.106C= c.92C= c.-37C= (n.-37C=) c.98C= c.63C= (p.Leu21=) c.56C= | |
2 | g.32064053C>G | CA425627666 | SPAST | c.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 |
2 | g.32064053C>T | CA1600524 | SPAST | c.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 |
2 | g.32064054T>A | CA346601773 | SPAST | c.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 | |
2 | g.32064054T>C | CA346601767 | SPAST | c.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 |
2 | g.32064054T>G | CA346601770 | SPAST | c.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 | |
2 | g.32064055T>A | CA346601775 | SPAST | c.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 | |
2 | g.32064055T>C | CA346601777 | SPAST | c.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 | |
2 | g.32064055T>G | CA346601780 | SPAST | c.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 | |
2 | g.32064056C>A | CA45201396 | SPAST | c.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 |
2 | g.32064056C= | CA1242461713 | SPAST | c.225C= (p.Phe75=) c.109C= c.95C= c.-34C= (n.-34C=) c.101C= c.66C= (p.Phe22=) c.59C= | |
2 | g.32064056C>G | CA346601783 | SPAST | c.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 |
2 | g.32064056C>T | CA425627678 | SPAST | c.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 |
2 | g.32064056_32064057insCAC | CA2580066383 | SPAST | c.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 |
2 | g.32064057G>A | CA346601786 | SPAST | c.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 |
2 | g.32064057G>C | CA346601793 | SPAST | c.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 | |
2 | g.32064057G= | CA1242461714 | SPAST | c.226G= (p.Val76=) c.110G= c.96G= c.-33G= (n.-33G=) c.102G= c.67G= (p.Val23=) c.60G= | |
2 | g.32064057G>T | CA1600525 | SPAST | c.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 |
2 | g.32064058T>A | CA346601797 | SPAST | c.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 | |
2 | g.32064058T>C | CA346601799 | SPAST | c.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 | |
2 | g.32064058T>G | CA346601801 | SPAST | c.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 | |
2 | g.32064059G>A | CA425627689 | SPAST | c.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 | |
2 | g.32064059G>C | CA425627691 | SPAST | c.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 | |
2 | g.32064059G>T | CA425627694 | SPAST | c.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 | |
2 | g.32064060T>A | CA346601805 | SPAST | c.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 | |
2 | g.32064060T>C | CA346601806 | SPAST | c.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 |
2 | g.32064060T>G | CA346601803 | SPAST | c.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 | |
2 | g.32064060T= | CA1242461715 | SPAST | c.229T= (p.Trp77=) c.113T= c.99T= c.-30T= (n.-30T=) c.105T= c.70T= (p.Trp24=) c.63T= | |
2 | g.32064061G>A | CA346601813 | SPAST | c.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 |
2 | g.32064061G>C | CA346601808 | SPAST | c.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 |
2 | g.32064061G= | CA1242461716 | SPAST | c.230G= (p.Trp77=) c.114G= c.100G= c.-29G= (n.-29G=) c.106G= c.71G= (p.Trp24=) c.64G= | |
2 | g.32064061G>T | CA346601811 | SPAST | c.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 | |
2 | g.32064062G>A | CA346601815 | SPAST | c.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 | |
2 | g.32064062G>C | CA1600526 | SPAST | c.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 |
2 | g.32064062G= | CA1242461717 | SPAST | c.231G= (p.Trp77=) c.115G= c.101G= c.-28G= (n.-28G=) c.107G= c.72G= (p.Trp24=) c.65G= | |
2 | g.32064062G>T | CA346601819 | SPAST | c.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 | |
2 | g.32064063C>A | CA346601822 | SPAST | c.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 | |
2 | g.32064063C= | CA1242461718 | SPAST | c.232C= (p.Leu78=) c.116C= c.102C= c.-27C= (n.-27C=) c.108C= c.73C= (p.Leu25=) c.66C= | |
2 | g.32064063C>G | CA346601824 | SPAST | c.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 |
2 | g.32064063C>T | CA346601826 | SPAST | c.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 |
2 | g.32064064T>A | CA346601829 | SPAST | c.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 | |
2 | g.32064064T>C | CA346601830 | SPAST | c.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 | |
2 | g.32064064T>G | CA346601833 | SPAST | c.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 | |
2 | g.32064065C>A | CA425627717 | SPAST | c.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 |
2 | g.32064065C= | CA1242461719 | SPAST | c.234C= (p.Leu78=) c.118C= c.104C= c.-25C= (n.-25C=) c.110C= c.75C= (p.Leu25=) c.68C= | |
2 | g.32064065C>G | CA425627718 | SPAST | c.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 |
2 | g.32064065C>T | CA425627720 | SPAST | c.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 |
2 | g.32064066T>A | CA346601838 | SPAST | c.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 | |
2 | g.32064066T>C | CA346601837 | SPAST | c.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 | |
2 | g.32064066T>G | CA346601836 | SPAST | c.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 | |
2 | g.32064067G>A | CA346601841 | SPAST | c.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 |
2 | g.32064067G>C | CA346601843 | SPAST | c.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 | |
2 | g.32064067G= | CA1242461720 | SPAST | c.236G= (p.Cys79=) c.120G= c.106G= c.-23G= (n.-23G=) c.112G= c.77G= (p.Cys26=) c.70G= | |
2 | g.32064067G>T | CA346601844 | SPAST | c.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 | |
2 | g.32064068C>A | CA346601847 | SPAST | c.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 |
2 | g.32064068C>G | CA346601850 | SPAST | c.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 | |
2 | g.32064068C>T | CA425627733 | SPAST | c.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 |
2 | g.32064069C>A | CA346601853 | SPAST | c.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 | |
2 | g.32064069C= | CA1242461721 | SPAST | c.238C= (p.Gln80=) c.122C= c.108C= c.-21C= (n.-21C=) c.114C= c.79C= (p.Gln27=) c.72C= | |
2 | g.32064069C>G | CA346601855 | SPAST | c.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 | |
2 | g.32064069C>T | CA346601857 | SPAST | c.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 |
2 | g.32064070A>C | CA346601861 | SPAST | c.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 | |
2 | g.32064070A>G | CA346601863 | SPAST | c.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 | |
2 | g.32064070A>T | CA346601866 | SPAST | c.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 | |
2 | g.32064071G>A | CA425627744 | SPAST | c.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 | |
2 | g.32064071G>C | CA346601867 | SPAST | c.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 |
2 | g.32064071G= | CA1242461722 | SPAST | c.240G= (p.Gln80=) c.124G= c.110G= c.-19G= (n.-19G=) c.116G= c.81G= (p.Gln27=) c.74G= | |
2 | g.32064071G>T | CA346601868 | SPAST | c.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 | |
2 | g.32064072C>A | CA346601873 | SPAST | c.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 | |
2 | g.32064072C= | CA1242461723 | SPAST | c.241C= (p.Arg81=) c.125C= c.111C= c.-18C= (n.-18C=) c.117C= c.82C= (p.Arg28=) c.75C= | |
2 | g.32064072C>G | CA346601875 | SPAST | c.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 | |
2 | g.32064072C>T | CA1600527 | SPAST | c.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 |
2 | g.32064073G>A | CA346601878 | SPAST | c.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 | |
2 | g.32064073G>C | CA346601880 | SPAST | c.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 |
2 | g.32064073G>T | CA346601883 | SPAST | c.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 | |
2 | g.32064074C>A | CA425627752 | SPAST | c.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 |
2 | g.32064074C= | CA1242461724 | SPAST | c.243C= (p.Arg81=) c.127C= c.113C= c.-16C= (n.-16C=) c.119C= c.84C= (p.Arg28=) c.77C= | |
2 | g.32064074C>G | CA1600528 | SPAST | c.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 |
2 | g.32064074C>T | CA425627751 | SPAST | c.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 |
2 | g.32064075T>A | CA346601887 | SPAST | c.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 | |
2 | g.32064075T>C | CA346601889 | SPAST | c.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 |
2 | g.32064075T>G | CA346601893 | SPAST | c.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 | |
2 | g.32064075T= | CA1242461725 | SPAST | c.244T= (p.Phe82=) c.128T= c.114T= c.-15T= (n.-15T=) c.120T= c.85T= (p.Phe29=) c.78T= | |
2 | g.32064076T>A | CA346601895 | SPAST | c.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 | |
2 | g.32064076T>C | CA346601899 | SPAST | c.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 | |
2 | g.32064076T>G | CA346601897 | SPAST | c.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 | |
2 | g.32064077C>A | CA346601903 | SPAST | c.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 |
2 | g.32064077C>G | CA346601905 | SPAST | c.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 | |
2 | g.32064077C>T | CA425627766 | SPAST | c.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 | |
2 | g.32064078T>A | CA346601908 | SPAST | c.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 | |
2 | g.32064078T>C | CA346601910 | SPAST | c.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 |
2 | g.32064078T>G | CA346601913 | SPAST | c.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 | |
2 | g.32064078T= | CA1242461726 | SPAST | c.247T= (p.Ser83=) c.131T= c.117T= c.-12T= (n.-12T=) c.123T= c.88T= (p.Ser30=) c.81T= | |
2 | g.32064079C>A | CA346601915 | SPAST | c.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 |
2 | g.32064079C>G | CA346601921 | SPAST | c.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 | |
2 | g.32064079C>T | CA346601918 | SPAST | c.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 |
2 | g.32064080C>A | CA425627774 | SPAST | c.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 | |
2 | g.32064080C>G | CA425627775 | SPAST | c.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 | |
2 | g.32064080C>T | CA425627778 | SPAST | c.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 | |
2 | g.32064081C>A | CA346601922 | SPAST | c.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 | |
2 | g.32064081C= | CA1242461727 | SPAST | c.250C= (p.Arg84=) c.134C= c.120C= c.-9C= (n.-9C=) c.126C= c.91C= (p.Arg31=) c.84C= | |
2 | g.32064081C>G | CA1600530 | SPAST | c.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 |
2 | g.32064081C>T | CA1600529 | SPAST | c.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 |
2 | g.32064082G>A | CA346601926 | SPAST | c.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 |
2 | g.32064082G>C | CA346601929 | SPAST | c.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 |
2 | g.32064082G= | CA1242461728 | SPAST | c.251G= (p.Arg84=) c.135G= c.121G= c.-8G= (n.-8G=) c.127G= c.92G= (p.Arg31=) c.85G= | |
2 | g.32064082G>T | CA346601930 | SPAST | c.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 |
2 | g.32064083C>A | CA425627790 | SPAST | c.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 | |
2 | g.32064083C= | CA1242461729 | SPAST | c.252C= (p.Arg84=) c.136C= c.122C= c.-7C= (n.-7C=) c.128C= c.93C= (p.Arg31=) c.86C= | |
2 | g.32064083C>G | CA425627791 | SPAST | c.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 |
2 | g.32064083C>T | CA425627793 | SPAST | c.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 |
2 | g.32064084G>A | CA45201397 | SPAST | c.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 |
2 | g.32064084G>C | CA346601935 | SPAST | c.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 | |
2 | g.32064084G= | CA1242461730 | SPAST | c.253G= (p.Ala85=) c.137G= c.123G= c.-6G= (n.-6G=) c.129G= c.94G= (p.Ala32=) c.87G= | |
2 | g.32064084G>T | CA346601953 | SPAST | c.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 |
2 | g.32064085C>A | CA346601956 | SPAST | c.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 | |
2 | g.32064085C>G | CA346601959 | SPAST | c.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 | |
2 | g.32064085C>T | CA346601962 | SPAST | c.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 | |
2 | g.32064086C>A | CA425627807 | SPAST | c.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 | |
2 | g.32064086C= | CA1242461731 | SPAST | c.255C= (p.Ala85=) c.139C= c.125C= c.-4C= (n.-4C=) c.131C= c.96C= (p.Ala32=) c.89C= | |
2 | g.32064086C>G | CA425627809 | SPAST | c.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 | |
2 | g.32064086C>T | CA425627811 | SPAST | c.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 |
2 | g.32064087C>A | CA346601964 | SPAST | c.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 | |
2 | g.32064087C= | CA1242461732 | SPAST | c.256C= (p.Leu86=) c.140C= c.126C= c.-3C= (n.-3C=) c.132C= c.97C= (p.Leu33=) c.90C= | |
2 | g.32064087C>G | CA1600531 | SPAST | c.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 |
2 | g.32064087C>T | CA1600532 | SPAST | c.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 |
2 | g.32064088T>A | CA346601971 | SPAST | c.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 | |
2 | g.32064088T>C | CA346601974 | SPAST | c.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 | |
2 | g.32064088T>G | CA346601973 | SPAST | c.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 | |
2 | g.32064089C>A | CA425627825 | SPAST | c.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 | |
2 | g.32064089C>G | CA425627827 | SPAST | c.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 |
2 | g.32064089C>T | CA425627828 | SPAST | c.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 |
2 | g.32064090A= | CA1242461733 | SPAST | c.259A= (p.Met87=) c.143A= c.129A= c.1A= (p.Met1=) c.135A= c.100A= (p.Met34=) c.93A= | |
2 | g.32064090A>C | CA346601977 | SPAST | c.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 |
2 | g.32064090A>G | CA346601982 | SPAST | c.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 |
2 | g.32064090A>T | CA346601979 | SPAST | c.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 | |
2 | g.32064090_32064091del | CA2573134599 | SPAST | c.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 |
2 | g.32064091T>A | CA346601985 | SPAST | c.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 |
2 | g.32064091T>C | CA346601986 | SPAST | c.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 | |
2 | g.32064091T>G | CA346601989 | SPAST | c.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 |
2 | g.32064091T= | CA1242461734 | SPAST | c.260T= (p.Met87=) c.144T= c.130T= c.2T= (p.Met1=) c.136T= c.101T= (p.Met34=) c.94T= | |
2 | g.32064092G>A | CA346601993 | SPAST | c.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 |
2 | g.32064092G>C | CA346601995 | SPAST | c.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 | |
2 | g.32064092G>T | CA346601997 | SPAST | c.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 | |
2 | g.32064093G>A | CA346602000 | SPAST | c.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 |
2 | g.32064093G>C | CA346602003 | SPAST | c.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 | |
2 | g.32064093G= | CA1242461735 | SPAST | c.262G= (p.Ala88=) c.146G= c.132G= c.4G= (p.Ala2=) c.138G= c.103G= (p.Ala35=) c.96G= | |
2 | g.32064093G>T | CA346602005 | SPAST | c.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 |
2 | g.32064094C>A | CA45201398 | SPAST | c.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 |
2 | g.32064094C= | CA1242461736 | SPAST | c.263C= (p.Ala88=) c.147C= c.133C= c.5C= (p.Ala2=) c.139C= c.104C= (p.Ala35=) c.97C= | |
2 | g.32064094C>G | CA346602009 | SPAST | c.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 | |
2 | g.32064094C>T | CA346602012 | SPAST | c.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 | |
2 | g.32064095A>C | CA425627850 | SPAST | c.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 | |
2 | g.32064095A>G | CA425627852 | SPAST | c.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 | |
2 | g.32064095A>T | CA425627854 | SPAST | c.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 | |
2 | g.32064096G>A | CA1600533 | SPAST | c.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 |
2 | g.32064096G>C | CA346602017 | SPAST | c.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 |
2 | g.32064096G= | CA1242461737 | SPAST | c.265G= (p.Ala89=) c.149G= c.135G= c.7G= (p.Ala3=) c.141G= c.106G= (p.Ala36=) c.99G= | |
2 | g.32064096G>T | CA346602016 | SPAST | c.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 | |
2 | g.32064097C>A | CA346602021 | SPAST | c.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 | |
2 | g.32064097C>G | CA346602023 | SPAST | c.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 | |
2 | g.32064097C>T | CA346602025 | SPAST | c.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 |
2 | g.32064098dup | CA1139656820 | SPAST | c.267dup (p.Lys90GlnfsTer?) c.151dup c.137dup c.9dup (p.Lys4GlnfsTer?) c.143dup c.108dup (p.Lys37GlnfsTer?) c.101dup | ClinVar dbSNP |
2 | g.32064098C>A | CA425627859 | SPAST | c.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 | |
2 | g.32064098C= | CA1242461738 | SPAST | c.267C= (p.Ala89=) c.151C= c.137C= c.9C= (p.Ala3=) c.143C= c.108C= (p.Ala36=) c.101C= | |
2 | g.32064098C>G | CA425627860 | SPAST | c.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 |
2 | g.32064098C>T | CA425627862 | SPAST | c.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 | |
2 | g.32064099A>C | CA346602028 | SPAST | c.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 |
2 | g.32064099A>G | CA346602030 | SPAST | c.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 |
2 | g.32064099A>T | CA346602031 | SPAST | c.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 | |
2 | g.32064100A= | CA1242461739 | SPAST | c.269A= (p.Lys90=) c.153A= c.139A= c.11A= (p.Lys4=) c.145A= c.110A= (p.Lys37=) c.103A= | |
2 | g.32064100A>C | CA346602034 | SPAST | c.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 | |
2 | g.32064100A>G | CA1600534 | SPAST | c.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 |
2 | g.32064100A>T | CA346602038 | SPAST | c.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 | |
2 | g.32064101G>A | CA45201399 | SPAST | c.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 |
2 | g.32064101G>C | CA346602040 | SPAST | c.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 | |
2 | g.32064101G= | CA1242461740 | SPAST | c.270G= (p.Lys90=) c.154G= c.140G= c.12G= (p.Lys4=) c.146G= c.111G= (p.Lys37=) c.104G= | |
2 | g.32064101G>T | CA346602042 | SPAST | c.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 | |
2 | g.32064102A>C | CA425627876 | SPAST | c.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 |
2 | g.32064102A>G | CA346602045 | SPAST | c.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 |
2 | g.32064102A>T | CA346602048 | SPAST | c.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 | |
2 | g.32064103G>A | CA346602052 | SPAST | c.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 | |
2 | g.32064103G>C | CA346602054 | SPAST | c.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 |
2 | g.32064103G= | CA1242461741 | SPAST | c.272G= (p.Arg91=) c.156G= c.142G= c.14G= (p.Arg5=) c.148G= c.113G= (p.Arg38=) c.106G= | |
2 | g.32064103G>T | CA346602050 | SPAST | c.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 | |
2 | g.32064104G>A | CA425627887 | SPAST | c.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 | |
2 | g.32064104G>C | CA346602059 | SPAST | c.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 | |
2 | g.32064104G>T | CA346602060 | SPAST | c.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 | |
2 | g.32064105A>C | CA346602063 | SPAST | c.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 |
2 | g.32064105A>G | CA346602065 | SPAST | c.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 | |
2 | g.32064105A>T | CA346602067 | SPAST | c.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 | |
2 | g.32064106G>A | CA346602070 | SPAST | c.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 | |
2 | g.32064106G>C | CA346602073 | SPAST | c.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 |
2 | g.32064106G>T | CA346602074 | SPAST | c.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 | |
2 | g.32064107C>A | CA45201400 | SPAST | c.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 |
2 | g.32064107C= | CA1242461742 | SPAST | c.276C= (p.Ser92=) c.160C= c.146C= c.18C= (p.Ser6=) c.152C= c.117C= (p.Ser39=) c.110C= | |
2 | g.32064107C>G | CA346602079 | SPAST | c.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 | |
2 | g.32064107C>T | CA425627903 | SPAST | c.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 | |
2 | g.32064108T>A | CA346602084 | SPAST | c.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 | |
2 | g.32064108T>C | CA346602082 | SPAST | c.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 |
2 | g.32064108T>G | CA346602080 | SPAST | c.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 |
2 | g.32064108T= | CA1242461743 | SPAST | c.277T= (p.Ser93=) c.161T= c.147T= c.19T= (p.Ser7=) c.153T= c.118T= (p.Ser40=) c.111T= | |
2 | g.32064109C>A | CA346602087 | SPAST | c.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 |
2 | g.32064109C= | CA1242461744 | SPAST | c.278C= (p.Ser93=) c.162C= c.148C= c.20C= (p.Ser7=) c.154C= c.119C= (p.Ser40=) c.112C= | |
2 | g.32064109C>G | CA346602089 | SPAST | c.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 | |
2 | g.32064109C>T | CA346602091 | SPAST | c.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 | |
2 | g.32064113_32064153del | CA2586968939 | SPAST | c.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 | |
2 | g.32064110C>A | CA425627920 | SPAST | c.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 | |
2 | g.32064110C= | CA1242461745 | SPAST | c.279C= (p.Ser93=) c.163C= c.149C= c.21C= (p.Ser7=) c.155C= c.120C= (p.Ser40=) c.113C= | |
2 | g.32064110C>G | CA425627921 | SPAST | c.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 |
2 | g.32064110C>T | CA425627922 | SPAST | c.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 | |
2 | g.32064111G>A | CA1600535 | SPAST | c.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 |
2 | g.32064111G>C | CA45201401 | SPAST | c.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 |
2 | g.32064111G= | CA1242461746 | SPAST | c.280G= (p.Gly94=) c.164G= c.150G= c.22G= (p.Gly8=) c.156G= c.121G= (p.Gly41=) c.114G= | |
2 | g.32064111G>T | CA346602096 | SPAST | c.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 | |
2 | g.32064114dup | CA2586968940 | SPAST | c.283dup (p.Ala95GlyfsTer?) c.167dup c.153dup c.25dup (p.Ala9GlyfsTer?) c.159dup c.124dup (p.Ala42GlyfsTer?) c.117dup | |
2 | g.32064114del | CA2586968941 | SPAST | c.283del (p.Ala95ProfsTer?) c.167del c.153del c.25del (p.Ala9ProfsTer?) c.159del c.124del (p.Ala42ProfsTer?) c.117del | |
2 | g.32064112G>A | CA1600536 | SPAST | c.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 |
2 | g.32064112G>C | CA346602097 | SPAST | c.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 | |
2 | g.32064112G= | CA1242461747 | SPAST | c.281G= (p.Gly94=) c.165G= c.151G= c.23G= (p.Gly8=) c.157G= c.122G= (p.Gly41=) c.115G= | |
2 | g.32064112G>T | CA346602099 | SPAST | c.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 | |
2 | g.32064113G>A | CA425627933 | SPAST | c.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 |
2 | g.32064113G>C | CA425627937 | SPAST | c.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 | |
2 | g.32064113G= | CA1242461748 | SPAST | c.282G= (p.Gly94=) c.166G= c.152G= c.24G= (p.Gly8=) c.158G= c.123G= (p.Gly41=) c.116G= | |
2 | g.32064113G>T | CA425627944 | SPAST | c.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 | |
2 | g.32064114G>A | CA346602102 | SPAST | c.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 |
2 | g.32064114G>C | CA346602103 | SPAST | c.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 |
2 | g.32064114G= | CA1242461749 | SPAST | c.283G= (p.Ala95=) c.167G= c.153G= c.25G= (p.Ala9=) c.159G= c.124G= (p.Ala42=) c.117G= | |
2 | g.32064114G>T | CA346602106 | SPAST | c.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 | |
2 | g.32064118_32064158del | CA2586968942 | SPAST | c.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 | |
2 | g.32064115C>A | CA346602109 | SPAST | c.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 | |
2 | g.32064115C= | CA1242461750 | SPAST | c.284C= (p.Ala95=) c.168C= c.154C= c.26C= (p.Ala9=) c.160C= c.125C= (p.Ala42=) c.118C= | |
2 | g.32064115C>G | CA1600537 | SPAST | c.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 |
2 | g.32064115C>T | CA1600538 | SPAST | c.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 |
2 | g.32064116del | CA2586968943 | SPAST | c.285del (p.Ala96ArgfsTer?) c.169del c.155del c.27del (p.Ala10ArgfsTer?) c.161del c.126del (p.Ala43ArgfsTer?) c.119del | |
2 | g.32064116_32064145del | CA2658519899 | SPAST | c.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 |
2 | g.32064116C>A | CA425627961 | SPAST | c.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 | |
2 | g.32064116C= | CA1242461751 | SPAST | c.285C= (p.Ala95=) c.169C= c.155C= c.27C= (p.Ala9=) c.161C= c.126C= (p.Ala42=) c.119C= | |
2 | g.32064116C>G | CA1600539 | SPAST | c.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 |
2 | g.32064116C>T | CA45201402 | SPAST | c.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 |
2 | g.32064116_32064117delinsCG | CA1242461752 | SPAST | c.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 | |
2 | g.32064117del | CA915943913 | SPAST | c.286del (p.Ala96ArgfsTer?) c.170del c.156del c.28del (p.Ala10ArgfsTer?) c.162del c.127del (p.Ala43ArgfsTer?) c.120del | ClinVar dbSNP |
2 | g.32064117G>A | CA346602114 | SPAST | c.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 | |
2 | g.32064117G>C | CA346602116 | SPAST | c.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 | |
2 | g.32064117G>T | CA346602120 | SPAST | c.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 | |
2 | g.32064118C>A | CA346602127 | SPAST | c.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 |
2 | g.32064118C>G | CA346602124 | SPAST | c.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 |
2 | g.32064118C>T | CA346602123 | SPAST | c.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 | |
2 | g.32064119G>A | CA425627975 | SPAST | c.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 |
2 | g.32064119G>C | CA425627976 | SPAST | c.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 |
2 | g.32064119G= | CA1242461753 | SPAST | c.288G= (p.Ala96=) c.172G= c.158G= c.30G= (p.Ala10=) c.164G= c.129G= (p.Ala43=) c.122G= | |
2 | g.32064119G>T | CA425627978 | SPAST | c.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 |
2 | g.32064120C>A | CA349578 | SPAST | c.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 |
2 | g.32064120C= | CA1242461754 | SPAST | c.289C= (p.Pro97=) c.173C= c.159C= c.31C= (p.Pro11=) c.165C= c.130C= (p.Pro44=) c.123C= | |
2 | g.32064120C>G | CA346602130 | SPAST | c.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 |
2 | g.32064120C>T | CA346602133 | SPAST | c.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 |
2 | g.32064121C>A | CA346602135 | SPAST | c.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 | |
2 | g.32064121C= | CA1242461755 | SPAST | c.290C= (p.Pro97=) c.174C= c.160C= c.32C= (p.Pro11=) c.166C= c.131C= (p.Pro44=) c.124C= | |
2 | g.32064121C>G | CA346602138 | SPAST | c.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 |
2 | g.32064121C>T | CA346602139 | SPAST | c.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 |
2 | g.32064122A>C | CA425627992 | SPAST | c.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 | |
2 | g.32064122A>G | CA425627994 | SPAST | c.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 | |
2 | g.32064122A>T | CA425627996 | SPAST | c.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 | |
2 | g.32064123G>A | CA346602143 | SPAST | c.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 |
2 | g.32064123G>C | CA346602147 | SPAST | c.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 | |
2 | g.32064123G= | CA1242461756 | SPAST | c.292G= (p.Ala98=) c.176G= c.162G= c.34G= (p.Ala12=) c.168G= c.133G= (p.Ala45=) c.126G= | |
2 | g.32064123G>T | CA346602144 | SPAST | c.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 |
2 | g.32064127_32064444del | CA2573134600 | SPAST | c.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 |
2 | g.32064124C>A | CA346602149 | SPAST | c.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 | |
2 | g.32064124C>G | CA346602151 | SPAST | c.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 | |
2 | g.32064124C>T | CA346602153 | SPAST | c.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 |
2 | g.32064125A= | CA1242461757 | SPAST | c.294A= (p.Ala98=) c.178A= c.164A= c.36A= (p.Ala12=) c.170A= c.135A= (p.Ala45=) c.128A= | |
2 | g.32064125A>C | CA1600540 | SPAST | c.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 |
2 | g.32064125A>G | CA425628025 | SPAST | c.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 |
2 | g.32064125A>T | CA425628024 | SPAST | c.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 | |
2 | g.32064126C>A | CA346602154 | SPAST | c.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 |
2 | g.32064126C= | CA1242461758 | SPAST | c.295C= (p.Pro99=) c.179C= c.165C= c.37C= (p.Pro13=) c.171C= c.136C= (p.Pro46=) c.129C= | |
2 | g.32064126C>G | CA346602155 | SPAST | c.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 | |
2 | g.32064126C>T | CA1600541 | SPAST | c.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 |
2 | g.32064127C>A | CA346602157 | SPAST | c.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 | |
2 | g.32064127C>G | CA346602159 | SPAST | c.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 | |
2 | g.32064127C>T | CA346602162 | SPAST | c.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 |
2 | g.32064128_32064133dup | CA1242461759 | SPAST | c.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 |
2 | g.32064128T>A | CA425628042 | SPAST | c.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 |
2 | g.32064128T>C | CA425628043 | SPAST | c.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 | |
2 | g.32064128T>G | CA425628045 | SPAST | c.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 |
2 | g.32064128T= | CA1242461761 | SPAST | c.297T= (p.Pro99=) c.181T= c.167T= c.39T= (p.Pro13=) c.173T= c.138T= (p.Pro46=) c.131T= | |
2 | g.32064128_32064134delinsTGCCTCG | CA1242461760 | SPAST | c.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 | |
2 | g.32064129G>A | CA346602171 | SPAST | c.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 |
2 | g.32064129G>C | CA346602177 | SPAST | c.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 | |
2 | g.32064129G= | CA1242461762 | SPAST | c.298G= (p.Ala100=) c.182G= c.168G= c.40G= (p.Ala14=) c.174G= c.139G= (p.Ala47=) c.132G= | |
2 | g.32064129G>T | CA346602169 | SPAST | c.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 | |
2 | g.32064129_32064131dup | CA2658519900 | SPAST | c.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 |
2 | g.32064138_32064143dup | CA1600543 | SPAST | c.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 |
2 | g.32064138_32064143del | CA1600542 | SPAST | c.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 |
2 | g.32064130C>A | CA346602180 | SPAST | c.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 | |
2 | g.32064130C= | CA1242461763 | SPAST | c.299C= (p.Ala100=) c.183C= c.169C= c.41C= (p.Ala14=) c.175C= c.140C= (p.Ala47=) c.133C= | |
2 | g.32064130C>G | CA346602183 | SPAST | c.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 | |
2 | g.32064130C>T | CA1600544 | SPAST | c.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 |
2 | g.32064131del | CA2576929934 | SPAST | c.300del (p.Ser101ArgfsTer?) c.184del c.170del c.42del (p.Ser15ArgfsTer?) c.176del c.141del (p.Ser48ArgfsTer?) c.134del | gnomAD v4 |
2 | g.32064131C>A | CA425626842 | SPAST | c.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 | |
2 | g.32064131C= | CA1242461764 | SPAST | c.300C= (p.Ala100=) c.184C= c.170C= c.42C= (p.Ala14=) c.176C= c.141C= (p.Ala47=) c.134C= | |
2 | g.32064131C>G | CA425626858 | SPAST | c.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 |
2 | g.32064131C>T | CA425626859 | SPAST | c.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 |
2 | g.32064132T>A | CA346602185 | SPAST | c.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 | |
2 | g.32064132T>C | CA346602188 | SPAST | c.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 | |
2 | g.32064132T>G | CA346602191 | SPAST | c.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 | |
2 | g.32064133C>A | CA346602193 | SPAST | c.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 |
2 | g.32064133C= | CA1242461765 | SPAST | c.302C= (p.Ser101=) c.186C= c.172C= c.44C= (p.Ser15=) c.178C= c.143C= (p.Ser48=) c.136C= | |
2 | g.32064133C>G | CA346602195 | SPAST | c.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 |
2 | g.32064133C>T | CA1600545 | SPAST | c.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 |
2 | g.32064134G>A | CA425626867 | SPAST | c.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 |
2 | g.32064134G>C | CA425626865 | SPAST | c.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 |
2 | g.32064134G= | CA1242461766 | SPAST | c.303G= (p.Ser101=) c.187G= c.173G= c.45G= (p.Ser15=) c.179G= c.144G= (p.Ser48=) c.137G= | |
2 | g.32064134G>T | CA425626864 | SPAST | c.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 |
2 | g.32064135G>A | CA346602200 | SPAST | c.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 |
2 | g.32064135G>C | CA346602202 | SPAST | c.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 | |
2 | g.32064135G= | CA1242461767 | SPAST | c.304G= (p.Ala102=) c.188G= c.174G= c.46G= (p.Ala16=) c.180G= c.145G= (p.Ala49=) c.138G= | |
2 | g.32064135G>T | CA346602203 | SPAST | c.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 | |
2 | g.32064136C>A | CA346602208 | SPAST | c.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 | |
2 | g.32064136C>G | CA346602211 | SPAST | c.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 | |
2 | g.32064136C>T | CA346602206 | SPAST | c.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 | |
2 | g.32064137C>A | CA425626889 | SPAST | c.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 | |
2 | g.32064137C= | CA1242461768 | SPAST | c.306C= (p.Ala102=) c.190C= c.176C= c.48C= (p.Ala16=) c.182C= c.147C= (p.Ala49=) c.140C= | |
2 | g.32064137C>G | CA425626894 | SPAST | c.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 |
2 | g.32064137C>T | CA45201403 | SPAST | c.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 |
2 | g.32064138del | CA2576929935 | SPAST | c.307del (p.Ser103ArgfsTer?) c.191del c.177del c.49del (p.Ser17ArgfsTer?) c.183del c.148del (p.Ser50ArgfsTer?) c.141del | |
2 | g.32064138T>A | CA346602214 | SPAST | c.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 | |
2 | g.32064138T>C | CA45201404 | SPAST | c.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 |
2 | g.32064138T>G | CA346602217 | SPAST | c.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 |
2 | g.32064138T= | CA1242461769 | SPAST | c.307T= (p.Ser103=) c.191T= c.177T= c.49T= (p.Ser17=) c.183T= c.148T= (p.Ser50=) c.141T= | |
2 | g.32064139C>A | CA346602222 | SPAST | c.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 | |
2 | g.32064139C= | CA1242461770 | SPAST | c.308C= (p.Ser103=) c.192C= c.178C= c.50C= (p.Ser17=) c.184C= c.149C= (p.Ser50=) c.142C= | |
2 | g.32064139C>G | CA346602224 | SPAST | c.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 | |
2 | g.32064139C>T | CA346602226 | SPAST | c.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 |
2 | g.32064143_32064148dup | CA1600546 | SPAST | c.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 |
2 | g.32064143_32064148del | CA645524363 | SPAST | c.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 |
2 | g.32064140G>A | CA425626900 | SPAST | c.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 | |
2 | g.32064140G>C | CA1600547 | SPAST | c.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 |
2 | g.32064140G= | CA1242461771 | SPAST | c.309G= (p.Ser103=) c.193G= c.179G= c.51G= (p.Ser17=) c.185G= c.150G= (p.Ser50=) c.143G= | |
2 | g.32064140G>T | CA425626907 | SPAST | c.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 |
2 | g.32064141del | CA2586968944 | SPAST | c.310del (p.Ala104ProfsTer?) c.194del c.180del c.52del (p.Ala18ProfsTer?) c.186del c.151del (p.Ala51ProfsTer?) c.144del | |
2 | g.32064141G>A | CA346602231 | SPAST | c.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 | ClinVar |
2 | g.32064141G>C | CA346602234 | SPAST | c.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 |
2 | g.32064141G>T | CA346602236 | SPAST | c.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 | |
2 | g.32064144_32064151del | CA2586968945 | SPAST | c.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 | |
2 | g.32064142C>A | CA346602240 | SPAST | c.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 | |
2 | g.32064142C>G | CA346602242 | SPAST | c.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 |
2 | g.32064142C>T | CA346602245 | SPAST | c.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 | |
2 | g.32064145del | CA2499215889 | SPAST | c.314del (p.Pro105ArgfsTer?) c.198del c.184del c.56del (p.Pro19ArgfsTer?) c.190del c.155del (p.Pro52ArgfsTer?) c.148del | ClinVar dbSNP |
2 | g.32064142_32064143insG | CA2576929936 | SPAST | c.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 | |
2 | g.32064143C>A | CA425626920 | SPAST | c.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 |
2 | g.32064143C= | CA1242461772 | SPAST | c.312C= (p.Ala104=) c.196C= c.182C= c.54C= (p.Ala18=) c.188C= c.153C= (p.Ala51=) c.146C= | |
2 | g.32064143C>G | CA425626923 | SPAST | c.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 |
2 | g.32064143C>T | CA425626928 | SPAST | c.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 |
2 | g.32064144C>A | CA346602247 | SPAST | c.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 | |
2 | g.32064144C= | CA1242461773 | SPAST | c.313C= (p.Pro105=) c.197C= c.183C= c.55C= (p.Pro19=) c.189C= c.154C= (p.Pro52=) c.147C= | |
2 | g.32064144C>G | CA1600548 | SPAST | c.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 |
2 | g.32064144C>T | CA346602246 | SPAST | c.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 |
2 | g.32064144_32064145insGGCAC | CA2576929937 | SPAST | c.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 | |
2 | g.32064148_32064153dup | CA531769478 | SPAST | c.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 |
2 | g.32064148_32064153del | CA2658519901 | SPAST | c.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 |
2 | g.32064145C>A | CA346602249 | SPAST | c.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 |
2 | g.32064145C= | CA1242461774 | SPAST | c.314C= (p.Pro105=) c.198C= c.184C= c.56C= (p.Pro19=) c.190C= c.155C= (p.Pro52=) c.148C= | |
2 | g.32064145C>G | CA346602252 | SPAST | c.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 |
2 | g.32064145C>T | CA346602250 | SPAST | c.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 |
2 | g.32064146G>A | CA1600549 | SPAST | c.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 |
2 | g.32064146G>C | CA425626937 | SPAST | c.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 | |
2 | g.32064146G= | CA1242461775 | SPAST | c.315G= (p.Pro105=) c.199G= c.185G= c.57G= (p.Pro19=) c.191G= c.156G= (p.Pro52=) c.149G= | |
2 | g.32064146G>T | CA425626939 | SPAST | c.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 |
2 | g.32064147G>A | CA346602254 | SPAST | c.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 | |
2 | g.32064147G>C | CA1600550 | SPAST | c.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 |
2 | g.32064147G= | CA1242461776 | SPAST | c.316G= (p.Ala106=) c.200G= c.186G= c.58G= (p.Ala20=) c.192G= c.157G= (p.Ala53=) c.150G= | |
2 | g.32064147G>T | CA346602258 | SPAST | c.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 |
2 | g.32064148C>A | CA346602262 | SPAST | c.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 |
2 | g.32064148C= | CA1242461778 | SPAST | c.317C= (p.Ala106=) c.201C= c.187C= c.59C= (p.Ala20=) c.193C= c.158C= (p.Ala53=) c.151C= | |
2 | g.32064148C>G | CA1600552 | SPAST | c.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 |
2 | g.32064148C>T | CA1600551 | SPAST | c.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 |
2 | g.32064148_32064154delinsCGCCGGT | CA1242461777 | SPAST | c.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 | |
2 | g.32064149G>A | CA425626958 | SPAST | c.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 |
2 | g.32064149G>C | CA45201405 | SPAST | c.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 |
2 | g.32064149G= | CA1242461779 | SPAST | c.318G= (p.Ala106=) c.202G= c.188G= c.60G= (p.Ala20=) c.194G= c.159G= (p.Ala53=) c.152G= | |
2 | g.32064149G>T | CA425626952 | SPAST | c.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 | |
2 | g.32064154_32064159dup | CA531769479 | SPAST | c.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 |
2 | g.32064154_32064159del | CA1600553 | SPAST | c.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 |
2 | g.32064150C>A | CA346602267 | SPAST | c.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 | |
2 | g.32064150C= | CA1242461780 | SPAST | c.319C= (p.Pro107=) c.203C= c.189C= c.61C= (p.Pro21=) c.195C= c.160C= (p.Pro54=) c.153C= | |
2 | g.32064150C>G | CA346602268 | SPAST | c.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 |
2 | g.32064150C>T | CA346602270 | SPAST | c.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 | |
2 | g.32064153_32064181del | CA2586968946 | SPAST | c.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 | |
2 | g.32064151C>A | CA346602272 | SPAST | c.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 |
2 | g.32064151C= | CA1242461781 | SPAST | c.320C= (p.Pro107=) c.204C= c.190C= c.62C= (p.Pro21=) c.196C= c.161C= (p.Pro54=) c.154C= | |
2 | g.32064151C>G | CA1600555 | SPAST | c.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 |
2 | g.32064151C>T | CA1600554 | SPAST | c.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 |
2 | g.32064152G>A | CA45201406 | SPAST | c.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 |
2 | g.32064152G>C | CA1600556 | SPAST | c.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 |
2 | g.32064152G= | CA1242461782 | SPAST | c.321G= (p.Pro107=) c.205G= c.191G= c.63G= (p.Pro21=) c.197G= c.162G= (p.Pro54=) c.155G= | |
2 | g.32064152G>T | CA425626964 | SPAST | c.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 |