Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42536486_42536509dup | CA983827698 | NAGLU | c.214_237dup (p.Gly79_Ser80insAlaAlaArgValArgValArgGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536486_42536509del | CA891844534 | NAGLU | c.214_237del (p.Ala72_Gly79del) | ClinVar dbSNP |
17 | g.42536491_42536509del | CA626218536 | NAGLU | c.219_237del (p.Arg74ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536490_42536516delinsCGCGCGTGCGGGTGCGCGGCTCCACGG | CA2260526779 | NAGLU | c.218_244delinsCGCGCGTGCGGGTGCGCGGCTCCACGG (p.Ala73=) | |
17 | g.42536494_42536533del | CA2637966167 | NAGLU | c.222_261del (p.Val75GlyfsTer?) | gnomAD v4 |
17 | g.42536494_42536519del | CA772109499 | NAGLU | c.222_247del (p.Val75GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536509_42536516dup | CA2740095357 | NAGLU | c.237_244dup (p.Gly82AlafsTer?) | ClinVar |
17 | g.42536509C>A | CA500216158 | NAGLU | c.237C>A (p.Gly79=) | gnomAD v4 |
17 | g.42536509C= | CA2260526789 | NAGLU | c.237C= (p.Gly79=) | |
17 | g.42536509C>G | CA500216159 | NAGLU | c.237C>G (p.Gly79=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536509C>T | CA500216160 | NAGLU | c.237C>T (p.Gly79=) | gnomAD v4 |
17 | g.42536510T>A | CA399595759 | NAGLU | c.238T>A (p.Ser80Thr) | |
17 | g.42536510T>C | CA399595761 | NAGLU | c.238T>C (p.Ser80Pro) | gnomAD v4 |
17 | g.42536510T>G | CA399595763 | NAGLU | c.238T>G (p.Ser80Ala) | |
17 | g.42536511C>A | CA399595764 | NAGLU | c.239C>A (p.Ser80Tyr) | gnomAD v4 |
17 | g.42536511C= | CA2260526790 | NAGLU | c.239C= (p.Ser80=) | |
17 | g.42536511C>G | CA399595766 | NAGLU | c.239C>G (p.Ser80Cys) | |
17 | g.42536511C>T | CA399595768 | NAGLU | c.239C>T (p.Ser80Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.42536512C>A | CA500216161 | NAGLU | c.240C>A (p.Ser80=) | gnomAD v4 |
17 | g.42536512C>G | CA500216164 | NAGLU | c.240C>G (p.Ser80=) | |
17 | g.42536512C>T | CA500216162 | NAGLU | c.240C>T (p.Ser80=) | gnomAD v4 |
17 | g.42536513A= | CA2260526791 | NAGLU | c.241A= (p.Thr81=) | |
17 | g.42536513A>C | CA399595769 | NAGLU | c.241A>C (p.Thr81Pro) | |
17 | g.42536513A>G | CA399595771 | NAGLU | c.241A>G (p.Thr81Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.42536513A>T | CA399595773 | NAGLU | c.241A>T (p.Thr81Ser) | |
17 | g.42536513_42536531delinsACGGGCGTGGCGGCCGCCG | CA2260526792 | NAGLU | c.241_259delinsACGGGCGTGGCGGCCGCCG (p.Thr81=) | |
17 | g.42536514C>A | CA399595777 | NAGLU | c.242C>A (p.Thr81Lys) | gnomAD v4 |
17 | g.42536514C= | CA2260526794 | NAGLU | c.242C= (p.Thr81=) | |
17 | g.42536514C>G | CA399595776 | NAGLU | c.242C>G (p.Thr81Arg) | gnomAD v4 |
17 | g.42536514C>T | CA399595774 | NAGLU | c.242C>T (p.Thr81Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536518_42536535del | CA2260526793 | NAGLU | c.246_263del (p.Val83_Gly88del) | dbSNP |
17 | g.42536515G>A | CA500216172 | NAGLU | c.243G>A (p.Thr81=) | gnomAD v4 |
17 | g.42536515G>C | CA500216168 | NAGLU | c.243G>C (p.Thr81=) | gnomAD v4 |
17 | g.42536515G>T | CA500216171 | NAGLU | c.243G>T (p.Thr81=) | ClinVar gnomAD v4 |
17 | g.42536516G>A | CA399595779 | NAGLU | c.244G>A (p.Gly82Ser) | gnomAD v4 |
17 | g.42536516G>C | CA399595782 | NAGLU | c.244G>C (p.Gly82Arg) | |
17 | g.42536516G>T | CA399595781 | NAGLU | c.244G>T (p.Gly82Cys) | gnomAD v4 |
17 | g.42536517G>A | CA399595785 | NAGLU | c.245G>A (p.Gly82Asp) | ClinVar dbSNP gnomAD v4 |
17 | g.42536517G>C | CA399595787 | NAGLU | c.245G>C (p.Gly82Ala) | gnomAD v4 |
17 | g.42536517G= | CA2260526795 | NAGLU | c.245G= (p.Gly82=) | |
17 | g.42536517G>T | CA399595789 | NAGLU | c.245G>T (p.Gly82Val) | gnomAD v4 |
17 | g.42536518C>A | CA500216174 | NAGLU | c.246C>A (p.Gly82=) | gnomAD v4 |
17 | g.42536518C>G | CA500216175 | NAGLU | c.246C>G (p.Gly82=) | gnomAD v4 |
17 | g.42536518C>T | CA500216173 | NAGLU | c.246C>T (p.Gly82=) | gnomAD v4 |
17 | g.42536519G>A | CA399595790 | NAGLU | c.247G>A (p.Val83Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536519G>C | CA399595791 | NAGLU | c.247G>C (p.Val83Leu) | gnomAD v4 |
17 | g.42536519G= | CA2260526796 | NAGLU | c.247G= (p.Val83=) | |
17 | g.42536519G>T | CA399595792 | NAGLU | c.247G>T (p.Val83Leu) | gnomAD v4 |
17 | g.42536520T>A | CA399595795 | NAGLU | c.248T>A (p.Val83Glu) | |
17 | g.42536520T>C | CA399595794 | NAGLU | c.248T>C (p.Val83Ala) | gnomAD v4 |
17 | g.42536520T>G | CA399595793 | NAGLU | c.248T>G (p.Val83Gly) | ClinVar |
17 | g.42536521G>A | CA500216178 | NAGLU | c.249G>A (p.Val83=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536521G>C | CA500216177 | NAGLU | c.249G>C (p.Val83=) | |
17 | g.42536521G= | CA2260526797 | NAGLU | c.249G= (p.Val83=) | |
17 | g.42536521G>T | CA500216179 | NAGLU | c.249G>T (p.Val83=) | gnomAD v4 |
17 | g.42536524_42536537del | CA2573154145 | NAGLU | c.252_265del (p.Ala86ProfsTer?) | ClinVar dbSNP |
17 | g.42536522G>A | CA399595796 | NAGLU | c.250G>A (p.Ala84Thr) | gnomAD v4 |
17 | g.42536522G>C | CA399595797 | NAGLU | c.250G>C (p.Ala84Pro) | |
17 | g.42536522G>T | CA399595798 | NAGLU | c.250G>T (p.Ala84Ser) | gnomAD v4 |
17 | g.42536523C>A | CA399595799 | NAGLU | c.251C>A (p.Ala84Glu) c.1C>A | gnomAD v4 |
17 | g.42536523C>G | CA399595800 | NAGLU | c.251C>G (p.Ala84Gly) c.1C>G | gnomAD v4 |
17 | g.42536523C>T | CA399595801 | NAGLU | c.251C>T (p.Ala84Val) c.1C>T | gnomAD v4 |
17 | g.42536524G>A | CA500216182 | NAGLU | c.252G>A (p.Ala84=) c.2G>A | ClinVar gnomAD v4 |
17 | g.42536524G>C | CA500216184 | NAGLU | c.252G>C (p.Ala84=) c.2G>C | gnomAD v4 |
17 | g.42536524G>T | CA500216183 | NAGLU | c.252G>T (p.Ala84=) c.2G>T | gnomAD v4 |
17 | g.42536525G>A | CA399595802 | NAGLU | c.253G>A (p.Ala85Thr) c.3G>A | gnomAD v4 |
17 | g.42536525G>C | CA399595804 | NAGLU | c.253G>C (p.Ala85Pro) c.3G>C | |
17 | g.42536525G>T | CA399595803 | NAGLU | c.253G>T (p.Ala85Ser) c.3G>T | gnomAD v4 |
17 | g.42536526C>A | CA399595806 | NAGLU | c.254C>A (p.Ala85Asp) c.4C>A | gnomAD v4 |
17 | g.42536526C= | CA2260526798 | NAGLU | c.254C= (p.Ala85=) c.4C= | |
17 | g.42536526C>G | CA399595808 | NAGLU | c.254C>G (p.Ala85Gly) c.4C>G | dbSNP |
17 | g.42536526C>T | CA399595809 | NAGLU | c.254C>T (p.Ala85Val) c.4C>T | gnomAD v4 |
17 | g.42536527dup | CA913012313 | NAGLU | c.255dup (p.Ala86ArgfsTer?) c.5dup | |
17 | g.42536527C>A | CA500216188 | NAGLU | c.255C>A (p.Ala85=) c.5C>A | gnomAD v4 |
17 | g.42536527C= | CA2260526799 | NAGLU | c.255C= (p.Ala85=) c.5C= | |
17 | g.42536527C>G | CA500216191 | NAGLU | c.255C>G (p.Ala85=) c.5C>G | gnomAD v4 |
17 | g.42536527C>T | CA500216186 | NAGLU | c.255C>T (p.Ala85=) c.5C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536528G>A | CA399595811 | NAGLU | c.256G>A (p.Ala86Thr) c.6G>A | gnomAD v4 |
17 | g.42536528G>C | CA399595813 | NAGLU | c.256G>C (p.Ala86Pro) c.6G>C | gnomAD v4 |
17 | g.42536528G= | CA2260526800 | NAGLU | c.256G= (p.Ala86=) c.6G= | |
17 | g.42536528G>T | CA399595815 | NAGLU | c.256G>T (p.Ala86Ser) c.6G>T | dbSNP gnomAD v4 |
17 | g.42536529_42536534dup | CA658823946 | NAGLU | c.257_262dup (p.Ala87_Gly88insAlaAla) c.7_12dup | ClinVar dbSNP |
17 | g.42536529C>A | CA399595820 | NAGLU | c.257C>A (p.Ala86Asp) c.7C>A | gnomAD v4 |
17 | g.42536529C>G | CA399595821 | NAGLU | c.257C>G (p.Ala86Gly) c.7C>G | |
17 | g.42536529C>T | CA399595823 | NAGLU | c.257C>T (p.Ala86Val) c.7C>T | gnomAD v4 |
17 | g.42536530C>A | CA399595825 | NAGLU | c.258C>A (p.Ala86=) c.8C>A c.1C>A (p.Arg1Ser) | gnomAD v4 |
17 | g.42536530C= | CA2260526801 | NAGLU | c.258C= (p.Ala86=) c.8C= c.1C= (p.Arg1=) | |
17 | g.42536530C>G | CA399595826 | NAGLU | c.258C>G (p.Ala86=) c.8C>G c.1C>G (p.Arg1Gly) | ClinVar dbSNP |
17 | g.42536530C>T | CA399595827 | NAGLU | c.258C>T (p.Ala86=) c.8C>T c.1C>T (p.Arg1Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536531G>A | CA399595828 | NAGLU | c.259G>A (p.Ala87Thr) c.9G>A c.2G>A (p.Arg1His) | gnomAD v4 |
17 | g.42536531G>C | CA399595830 | NAGLU | c.259G>C (p.Ala87Pro) c.9G>C c.2G>C (p.Arg1Pro) | gnomAD v4 |
17 | g.42536531G= | CA2260526802 | NAGLU | c.259G= (p.Ala87=) c.9G= c.2G= (p.Arg1=) | |
17 | g.42536531G>T | CA399595829 | NAGLU | c.259G>T (p.Ala87Ser) c.9G>T c.2G>T (p.Arg1Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536532del | CA2637966324 | NAGLU | c.260del (p.Ala87GlyfsTer?) c.10del c.3del (p.Ala3LeufsTer?) | gnomAD v4 |
17 | g.42536532C>A | CA399595831 | NAGLU | c.260C>A (p.Ala87Glu) c.10C>A c.3C>A (p.Arg1=) | gnomAD v4 |
17 | g.42536532C= | CA2260526803 | NAGLU | c.260C= (p.Ala87=) c.10C= c.3C= (p.Arg1=) | |
17 | g.42536532C>G | CA399595832 | NAGLU | c.260C>G (p.Ala87Gly) c.10C>G c.3C>G (p.Arg1=) | |
17 | g.42536532C>T | CA399595833 | NAGLU | c.260C>T (p.Ala87Val) c.10C>T c.3C>T (p.Arg1=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536533G>A | CA399595834 | NAGLU | c.261G>A (p.Ala87=) c.11G>A c.4G>A (p.Gly2Arg) | gnomAD v4 |
17 | g.42536533G>C | CA399595835 | NAGLU | c.261G>C (p.Ala87=) c.11G>C c.4G>C (p.Gly2Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536533G= | CA2260526804 | NAGLU | c.261G= (p.Ala87=) c.11G= c.4G= (p.Gly2=) | |
17 | g.42536533G>T | CA399595837 | NAGLU | c.261G>T (p.Ala87=) c.11G>T c.4G>T (p.Gly2Trp) | ClinVar gnomAD v4 |
17 | g.42536536del | CA2637966325 | NAGLU | c.264del (p.Leu89CysfsTer?) c.14del c.7del (p.Ala3LeufsTer?) | gnomAD v4 |
17 | g.42536534G>A | CA399595839 | NAGLU | c.262G>A (p.Gly88Arg) c.12G>A c.5G>A (p.Gly2Glu) | gnomAD v4 |
17 | g.42536534G>C | CA399595842 | NAGLU | c.262G>C (p.Gly88Arg) c.12G>C c.5G>C (p.Gly2Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536534G= | CA2260526805 | NAGLU | c.262G= (p.Gly88=) c.12G= c.5G= (p.Gly2=) | |
17 | g.42536534G>T | CA399595844 | NAGLU | c.262G>T (p.Gly88Trp) c.12G>T c.5G>T (p.Gly2Val) | gnomAD v4 |
17 | g.42536535G>A | CA399595845 | NAGLU | c.263G>A (p.Gly88Glu) c.13G>A c.6G>A (p.Gly2=) | |
17 | g.42536535G>C | CA399595847 | NAGLU | c.263G>C (p.Gly88Ala) c.13G>C c.6G>C (p.Gly2=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536535G= | CA2260526806 | NAGLU | c.263G= (p.Gly88=) c.13G= c.6G= (p.Gly2=) | |
17 | g.42536535G>T | CA399595849 | NAGLU | c.263G>T (p.Gly88Val) c.13G>T c.6G>T (p.Gly2=) | gnomAD v4 |
17 | g.42536536G>A | CA290771356 | NAGLU | c.264G>A (p.Gly88=) c.14G>A c.7G>A (p.Ala3Thr) | dbSNP gnomAD v4 |
17 | g.42536536G>C | CA399595855 | NAGLU | c.264G>C (p.Gly88=) c.14G>C c.7G>C (p.Ala3Pro) | |
17 | g.42536536G= | CA2260526807 | NAGLU | c.264G= (p.Gly88=) c.14G= c.7G= (p.Ala3=) | |
17 | g.42536536G>T | CA399595852 | NAGLU | c.264G>T (p.Gly88=) c.14G>T c.7G>T (p.Ala3Ser) | |
17 | g.42536537C>A | CA399595857 | NAGLU | c.265C>A (p.Leu89Met) c.15C>A c.8C>A (p.Ala3Asp) | gnomAD v4 |
17 | g.42536537C>G | CA399595858 | NAGLU | c.265C>G (p.Leu89Val) c.15C>G c.8C>G (p.Ala3Gly) | |
17 | g.42536537C>T | CA399595859 | NAGLU | c.265C>T (p.Leu89=) c.15C>T c.8C>T (p.Ala3Val) | ClinVar dbSNP |
17 | g.42536538T>A | CA399595861 | NAGLU | c.266T>A (p.Leu89Gln) c.16T>A c.9T>A (p.Ala3=) | |
17 | g.42536538T>C | CA399595863 | NAGLU | c.266T>C (p.Leu89Pro) c.16T>C c.9T>C (p.Ala3=) | gnomAD v4 |
17 | g.42536538T>G | CA399595869 | NAGLU | c.266T>G (p.Leu89Arg) c.16T>G c.9T>G (p.Ala3=) | |
17 | g.42536539G>A | CA399595871 | NAGLU | c.267G>A (p.Leu89=) c.17G>A c.10G>A (p.Ala4Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.42536539G>C | CA399595874 | NAGLU | c.267G>C (p.Leu89=) c.17G>C c.10G>C (p.Ala4Pro) | |
17 | g.42536539G>T | CA399595875 | NAGLU | c.267G>T (p.Leu89=) c.17G>T c.10G>T (p.Ala4Ser) | gnomAD v4 |
17 | g.42536540C>A | CA399595876 | NAGLU | c.268C>A (p.His90Asn) c.18C>A c.11C>A (p.Ala4Glu) c.-475C>A (n.-475C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536540C= | CA2260526808 | NAGLU | c.268C= (p.His90=) c.18C= c.11C= (p.Ala4=) c.-475C= (n.-475C=) | |
17 | g.42536540C>G | CA399595877 | NAGLU | c.268C>G (p.His90Asp) c.18C>G c.11C>G (p.Ala4Gly) c.-475C>G (n.-475C>G) | |
17 | g.42536540C>T | CA290771358 | NAGLU | c.268C>T (p.His90Tyr) c.18C>T c.11C>T (p.Ala4Val) c.-475C>T (n.-475C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536541A>C | CA399595878 | NAGLU | c.269A>C (p.His90Pro) c.19A>C c.12A>C (p.Ala4=) c.-474A>C (n.-474A>C) | |
17 | g.42536541A>G | CA399595880 | NAGLU | c.269A>G (p.His90Arg) c.19A>G c.12A>G (p.Ala4=) c.-474A>G (n.-474A>G) | gnomAD v4 |
17 | g.42536541A>T | CA399595879 | NAGLU | c.269A>T (p.His90Leu) c.19A>T c.12A>T (p.Ala4=) c.-474A>T (n.-474A>T) | gnomAD v4 |
17 | g.42536542C>A | CA399595881 | NAGLU | c.270C>A (p.His90Gln) c.20C>A c.13C>A (p.Pro5Thr) c.-473C>A (n.-473C>A) | gnomAD v4 |
17 | g.42536542C= | CA2260526809 | NAGLU | c.270C= (p.His90=) c.20C= c.13C= (p.Pro5=) c.-473C= (n.-473C=) | |
17 | g.42536542C>G | CA399595883 | NAGLU | c.270C>G (p.His90Gln) c.20C>G c.13C>G (p.Pro5Ala) c.-473C>G (n.-473C>G) | dbSNP gnomAD v4 |
17 | g.42536542C>T | CA399595884 | NAGLU | c.270C>T (p.His90=) c.20C>T c.13C>T (p.Pro5Ser) c.-473C>T (n.-473C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536543C>A | CA399595886 | NAGLU | c.271C>A (p.Arg91Ser) c.21C>A c.14C>A (p.Pro5Gln) c.-472C>A (n.-472C>A) | gnomAD v4 |
17 | g.42536543C>G | CA399595887 | NAGLU | c.271C>G (p.Arg91Gly) c.21C>G c.14C>G (p.Pro5Arg) c.-472C>G (n.-472C>G) | gnomAD v4 |
17 | g.42536543C>T | CA399595889 | NAGLU | c.271C>T (p.Arg91Cys) c.21C>T c.14C>T (p.Pro5Leu) c.-472C>T (n.-472C>T) | gnomAD v4 |
17 | g.42536544G>A | CA399595895 | NAGLU | c.272G>A (p.Arg91His) c.22G>A c.15G>A (p.Pro5=) c.-471G>A (n.-471G>A) | gnomAD v4 |
17 | g.42536544G>C | CA399595892 | NAGLU | c.272G>C (p.Arg91Pro) c.22G>C c.15G>C (p.Pro5=) c.-471G>C (n.-471G>C) | |
17 | g.42536544G>T | CA399595893 | NAGLU | c.272G>T (p.Arg91Leu) c.22G>T c.15G>T (p.Pro5=) c.-471G>T (n.-471G>T) | gnomAD v4 |
17 | g.42536545C>A | CA399595899 | NAGLU | c.273C>A (p.Arg91=) c.23C>A c.16C>A (p.Leu6Ile) c.-470C>A (n.-470C>A) | gnomAD v4 |
17 | g.42536545C>G | CA399595901 | NAGLU | c.273C>G (p.Arg91=) c.23C>G c.16C>G (p.Leu6Val) c.-470C>G (n.-470C>G) | |
17 | g.42536545C>T | CA500215710 | NAGLU | c.273C>T (p.Arg91=) c.23C>T c.16C>T (p.Leu6=) c.-470C>T (n.-470C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536546T>A | CA399595902 | NAGLU | c.274T>A (p.Tyr92Asn) c.24T>A c.17T>A (p.Leu6Gln) c.-469T>A (n.-469T>A) | |
17 | g.42536546T>C | CA399595903 | NAGLU | c.274T>C (p.Tyr92His) c.24T>C c.17T>C (p.Leu6Pro) c.-469T>C (n.-469T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536546T>G | CA399595904 | NAGLU | c.274T>G (p.Tyr92Asp) c.24T>G c.17T>G (p.Leu6Arg) c.-469T>G (n.-469T>G) | |
17 | g.42536546T= | CA2260526810 | NAGLU | c.274T= (p.Tyr92=) c.24T= c.17T= (p.Leu6=) c.-469T= (n.-469T=) | |
17 | g.42536547A= | CA2260526811 | NAGLU | c.275A= (p.Tyr92=) c.25A= c.18A= (p.Leu6=) c.-468A= (n.-468A=) | |
17 | g.42536547A>C | CA399595907 | NAGLU | c.275A>C (p.Tyr92Ser) c.25A>C c.18A>C (p.Leu6=) c.-468A>C (n.-468A>C) | |
17 | g.42536547A>G | CA290771361 | NAGLU | c.275A>G (p.Tyr92Cys) c.25A>G c.18A>G (p.Leu6=) c.-468A>G (n.-468A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536547A>T | CA399595905 | NAGLU | c.275A>T (p.Tyr92Phe) c.25A>T c.18A>T (p.Leu6=) c.-468A>T (n.-468A>T) | |
17 | g.42536548C>A | CA399595909 | NAGLU | c.276C>A (p.Tyr92Ter) c.26C>A c.19C>A (p.Pro7Thr) c.-467C>A (n.-467C>A) | gnomAD v4 |
17 | g.42536548C= | CA2260526812 | NAGLU | c.276C= (p.Tyr92=) c.26C= c.19C= (p.Pro7=) c.-467C= (n.-467C=) | |
17 | g.42536548C>G | CA399595911 | NAGLU | c.276C>G (p.Tyr92Ter) c.26C>G c.19C>G (p.Pro7Ala) c.-467C>G (n.-467C>G) | |
17 | g.42536548C>T | CA8576699 | NAGLU | c.276C>T (p.Tyr92=) c.26C>T c.19C>T (p.Pro7Ser) c.-467C>T (n.-467C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536549C>A | CA399595913 | NAGLU | c.277C>A (p.Leu93Met) c.27C>A c.20C>A (p.Pro7His) c.-466C>A (n.-466C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536549C= | CA2260526813 | NAGLU | c.277C= (p.Leu93=) c.27C= c.20C= (p.Pro7=) c.-466C= (n.-466C=) | |
17 | g.42536549C>G | CA399595915 | NAGLU | c.277C>G (p.Leu93Val) c.27C>G c.20C>G (p.Pro7Arg) c.-466C>G (n.-466C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536549C>T | CA399595917 | NAGLU | c.277C>T (p.Leu93=) c.27C>T c.20C>T (p.Pro7Leu) c.-466C>T (n.-466C>T) | dbSNP gnomAD v4 |
17 | g.42536550del | CA2637966327 | NAGLU | c.278del (p.Leu93ArgfsTer29) c.28del c.21del (p.Ala8ArgfsTer?) c.-465del (n.-465del) | gnomAD v4 |
17 | g.42536550T>A | CA399595919 | NAGLU | c.278T>A (p.Leu93Gln) c.28T>A c.21T>A (p.Pro7=) c.-465T>A (n.-465T>A) | gnomAD v4 |
17 | g.42536550T>C | CA399595922 | NAGLU | c.278T>C (p.Leu93Pro) c.28T>C c.21T>C (p.Pro7=) c.-465T>C (n.-465T>C) | ClinVar gnomAD v4 |
17 | g.42536550T>G | CA399595923 | NAGLU | c.278T>G (p.Leu93Arg) c.28T>G c.21T>G (p.Pro7=) c.-465T>G (n.-465T>G) | |
17 | g.42536551G>A | CA399595925 | NAGLU | c.279G>A (p.Leu93=) c.29G>A c.22G>A (p.Ala8Thr) c.-464G>A (n.-464G>A) | gnomAD v4 |
17 | g.42536551G>C | CA399595927 | NAGLU | c.279G>C (p.Leu93=) c.29G>C c.22G>C (p.Ala8Pro) c.-464G>C (n.-464G>C) | gnomAD v4 |
17 | g.42536551G>T | CA399595928 | NAGLU | c.279G>T (p.Leu93=) c.29G>T c.22G>T (p.Ala8Ser) c.-464G>T (n.-464G>T) | gnomAD v4 |
17 | g.42536552C>A | CA399595929 | NAGLU | c.280C>A (p.Arg94Ser) c.30C>A c.23C>A (p.Ala8Glu) c.-463C>A (n.-463C>A) | gnomAD v4 |
17 | g.42536552C>G | CA399595932 | NAGLU | c.280C>G (p.Arg94Gly) c.30C>G c.23C>G (p.Ala8Gly) c.-463C>G (n.-463C>G) | |
17 | g.42536552C>T | CA399595931 | NAGLU | c.280C>T (p.Arg94Cys) c.30C>T c.23C>T (p.Ala8Val) c.-463C>T (n.-463C>T) | gnomAD v4 |
17 | g.42536553G>A | CA399595934 | NAGLU | c.281G>A (p.Arg94His) c.31G>A c.24G>A (p.Ala8=) c.-462G>A (n.-462G>A) | gnomAD v4 |
17 | g.42536553G>C | CA399595936 | NAGLU | c.281G>C (p.Arg94Pro) c.31G>C c.24G>C (p.Ala8=) c.-462G>C (n.-462G>C) | gnomAD v4 |
17 | g.42536553G>T | CA399595939 | NAGLU | c.281G>T (p.Arg94Leu) c.31G>T c.24G>T (p.Ala8=) c.-462G>T (n.-462G>T) | gnomAD v4 |
17 | g.42536553_42536555delinsCCC | CA2695226051 | NAGLU | c.281_283delinsCCC (p.Arg94_Asp95delinsProHis) c.31_33delinsCCC c.24_26delinsCCC (p.Arg9Pro) c.-462_-460delinsCCC (n.-462_-460delinsCCC) | |
17 | g.42536554C>A | CA500215737 | NAGLU | c.282C>A (p.Arg94=) c.32C>A c.25C>A (p.Arg9=) c.-461C>A (n.-461C>A) | gnomAD v4 |
17 | g.42536554C= | CA2260526814 | NAGLU | c.282C= (p.Arg94=) c.32C= c.25C= (p.Arg9=) c.-461C= (n.-461C=) | |
17 | g.42536554C>G | CA399595941 | NAGLU | c.282C>G (p.Arg94=) c.32C>G c.25C>G (p.Arg9Gly) c.-461C>G (n.-461C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536554C>T | CA290771374 | NAGLU | c.282C>T (p.Arg94=) c.32C>T c.25C>T (p.Arg9Ter) c.-461C>T (n.-461C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536555G>A | CA399595942 | NAGLU | c.283G>A (p.Asp95Asn) c.33G>A c.26G>A (p.Arg9Gln) c.-460G>A (n.-460G>A) | dbSNP gnomAD v4 |
17 | g.42536555G>C | CA399595945 | NAGLU | c.283G>C (p.Asp95His) c.33G>C c.26G>C (p.Arg9Pro) c.-460G>C (n.-460G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536555G= | CA2260526815 | NAGLU | c.283G= (p.Asp95=) c.33G= c.26G= (p.Arg9=) c.-460G= (n.-460G=) | |
17 | g.42536555G>T | CA399595947 | NAGLU | c.283G>T (p.Asp95Tyr) c.33G>T c.26G>T (p.Arg9Leu) c.-460G>T (n.-460G>T) | gnomAD v4 |
17 | g.42536556A>C | CA399595950 | NAGLU | c.284A>C (p.Asp95Ala) c.34A>C c.27A>C (p.Arg9=) c.-459A>C (n.-459A>C) | |
17 | g.42536556A>G | CA399595952 | NAGLU | c.284A>G (p.Asp95Gly) c.34A>G c.27A>G (p.Arg9=) c.-459A>G (n.-459A>G) | gnomAD v4 |
17 | g.42536556A>T | CA399595953 | NAGLU | c.284A>T (p.Asp95Val) c.34A>T c.27A>T (p.Arg9=) c.-459A>T (n.-459A>T) | |
17 | g.42536557C>A | CA290771383 | NAGLU | c.285C>A (p.Asp95Glu) c.35C>A c.28C>A (p.Leu10Ile) c.-458C>A (n.-458C>A) | dbSNP gnomAD v4 |
17 | g.42536557C= | CA2260526816 | NAGLU | c.285C= (p.Asp95=) c.35C= c.28C= (p.Leu10=) c.-458C= (n.-458C=) | |
17 | g.42536557C>G | CA399595958 | NAGLU | c.285C>G (p.Asp95Glu) c.35C>G c.28C>G (p.Leu10Val) c.-458C>G (n.-458C>G) | gnomAD v4 |
17 | g.42536557C>T | CA399595956 | NAGLU | c.285C>T (p.Asp95=) c.35C>T c.28C>T (p.Leu10Phe) c.-458C>T (n.-458C>T) | gnomAD v4 |
17 | g.42536558T>A | CA399595961 | NAGLU | c.286T>A (p.Phe96Ile) c.36T>A c.29T>A (p.Leu10His) c.-457T>A (n.-457T>A) | gnomAD v4 |
17 | g.42536558T>C | CA399595963 | NAGLU | c.286T>C (p.Phe96Leu) c.36T>C c.29T>C (p.Leu10Pro) c.-457T>C (n.-457T>C) | gnomAD v4 |
17 | g.42536558T>G | CA399595965 | NAGLU | c.286T>G (p.Phe96Val) c.36T>G c.29T>G (p.Leu10Arg) c.-457T>G (n.-457T>G) | |
17 | g.42536559T>A | CA399595967 | NAGLU | c.287T>A (p.Phe96Tyr) c.37T>A c.30T>A (p.Leu10=) c.-456T>A (n.-456T>A) | |
17 | g.42536559T>C | CA399595969 | NAGLU | c.287T>C (p.Phe96Ser) c.37T>C c.30T>C (p.Leu10=) c.-456T>C (n.-456T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536559T>G | CA399595971 | NAGLU | c.287T>G (p.Phe96Cys) c.37T>G c.30T>G (p.Leu10=) c.-456T>G (n.-456T>G) | |
17 | g.42536559T= | CA2260526817 | NAGLU | c.287T= (p.Phe96=) c.37T= c.30T= (p.Leu10=) c.-456T= (n.-456T=) | |
17 | g.42536560C>A | CA399595974 | NAGLU | c.288C>A (p.Phe96Leu) c.38C>A c.31C>A (p.Leu11Met) c.-455C>A (n.-455C>A) | gnomAD v4 |
17 | g.42536560C= | CA2260526818 | NAGLU | c.288C= (p.Phe96=) c.38C= c.31C= (p.Leu11=) c.-455C= (n.-455C=) | |
17 | g.42536560C>G | CA399595976 | NAGLU | c.288C>G (p.Phe96Leu) c.38C>G c.31C>G (p.Leu11Val) c.-455C>G (n.-455C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536560C>T | CA8576700 | NAGLU | c.288C>T (p.Phe96=) c.38C>T c.31C>T (p.Leu11=) c.-455C>T (n.-455C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536561T>A | CA399595980 | NAGLU | c.289T>A (p.Cys97Ser) c.39T>A c.32T>A (p.Leu11Gln) c.-454T>A (n.-454T>A) | |
17 | g.42536561T>C | CA399595981 | NAGLU | c.289T>C (p.Cys97Arg) c.39T>C c.32T>C (p.Leu11Pro) c.-454T>C (n.-454T>C) | gnomAD v4 |
17 | g.42536561T>G | CA399595982 | NAGLU | c.289T>G (p.Cys97Gly) c.39T>G c.32T>G (p.Leu11Arg) c.-454T>G (n.-454T>G) | |
17 | g.42536562G>A | CA399595984 | NAGLU | c.290G>A (p.Cys97Tyr) c.40G>A c.33G>A (p.Leu11=) c.-453G>A (n.-453G>A) | gnomAD v4 |
17 | g.42536562G>C | CA399595985 | NAGLU | c.290G>C (p.Cys97Ser) c.40G>C c.33G>C (p.Leu11=) c.-453G>C (n.-453G>C) | |
17 | g.42536562G>T | CA399595983 | NAGLU | c.290G>T (p.Cys97Phe) c.40G>T c.33G>T (p.Leu11=) c.-453G>T (n.-453G>T) | gnomAD v4 |
17 | g.42536563T>A | CA399595987 | NAGLU | c.291T>A (p.Cys97Ter) c.41T>A c.34T>A (p.Trp12Arg) c.-452T>A (n.-452T>A) | gnomAD v4 |
17 | g.42536563T>C | CA399595986 | NAGLU | c.291T>C (p.Cys97=) c.41T>C c.34T>C (p.Trp12Arg) c.-452T>C (n.-452T>C) | gnomAD v4 |
17 | g.42536563T>G | CA399595988 | NAGLU | c.291T>G (p.Cys97Trp) c.41T>G c.34T>G (p.Trp12Gly) c.-452T>G (n.-452T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42536563T= | CA2260526819 | NAGLU | c.291T= (p.Cys97=) c.41T= c.34T= (p.Trp12=) c.-452T= (n.-452T=) | |
17 | g.42536564G>A | CA399595989 | NAGLU | c.292G>A (p.Gly98Ser) c.42G>A c.35G>A (p.Trp12Ter) c.-451G>A (n.-451G>A) | gnomAD v4 |
17 | g.42536564G>C | CA399595990 | NAGLU | c.292G>C (p.Gly98Arg) c.42G>C c.35G>C (p.Trp12Ser) c.-451G>C (n.-451G>C) | |
17 | g.42536564G>T | CA399595991 | NAGLU | c.292G>T (p.Gly98Cys) c.42G>T c.35G>T (p.Trp12Leu) c.-451G>T (n.-451G>T) | gnomAD v4 |
17 | g.42536565del | CA2637966330 | NAGLU | c.293del (p.Gly98AlafsTer24) c.43del c.36del (p.Trp12CysfsTer?) c.-450del (n.-450del) | gnomAD v4 |
17 | g.42536565G>A | CA399595992 | NAGLU | c.293G>A (p.Gly98Asp) c.43G>A c.36G>A (p.Trp12Ter) c.-450G>A (n.-450G>A) | gnomAD v4 |
17 | g.42536565G>C | CA399595993 | NAGLU | c.293G>C (p.Gly98Ala) c.43G>C c.36G>C (p.Trp12Cys) c.-450G>C (n.-450G>C) | |
17 | g.42536565G>T | CA399595994 | NAGLU | c.293G>T (p.Gly98Val) c.43G>T c.36G>T (p.Trp12Cys) c.-450G>T (n.-450G>T) | gnomAD v4 |
17 | g.42536566C>A | CA399595995 | NAGLU | c.294C>A (p.Gly98=) c.44C>A c.37C>A (p.Leu13Met) c.-449C>A (n.-449C>A) | gnomAD v4 |
17 | g.42536566C= | CA2260526820 | NAGLU | c.294C= (p.Gly98=) c.44C= c.37C= (p.Leu13=) c.-449C= (n.-449C=) | |
17 | g.42536566C>G | CA399595996 | NAGLU | c.294C>G (p.Gly98=) c.44C>G c.37C>G (p.Leu13Val) c.-449C>G (n.-449C>G) | dbSNP gnomAD v4 |
17 | g.42536566C>T | CA500215769 | NAGLU | c.294C>T (p.Gly98=) c.44C>T c.37C>T (p.Leu13=) c.-449C>T (n.-449C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536567T>A | CA399595997 | NAGLU | c.295T>A (p.Cys99Ser) c.45T>A c.38T>A (p.Leu13Gln) c.-448T>A (n.-448T>A) | |
17 | g.42536567T>C | CA399595998 | NAGLU | c.295T>C (p.Cys99Arg) c.45T>C c.38T>C (p.Leu13Pro) c.-448T>C (n.-448T>C) | gnomAD v4 |
17 | g.42536567T>G | CA399595999 | NAGLU | c.295T>G (p.Cys99Gly) c.45T>G c.38T>G (p.Leu13Arg) c.-448T>G (n.-448T>G) | |
17 | g.42536567_42536576del | CA2637966332 | NAGLU | c.295_304del (p.Cys99ProfsTer20) c.45_54del c.38_47del (p.Leu13ProfsTer?) c.-448_-439del (n.-448_-439del) | gnomAD v4 |
17 | g.42536568G>A | CA399596002 | NAGLU | c.296G>A (p.Cys99Tyr) c.46G>A c.39G>A (p.Leu13=) c.-447G>A (n.-447G>A) | gnomAD v4 |
17 | g.42536568G>C | CA399596001 | NAGLU | c.296G>C (p.Cys99Ser) c.46G>C c.39G>C (p.Leu13=) c.-447G>C (n.-447G>C) | gnomAD v4 |
17 | g.42536568G>T | CA399596000 | NAGLU | c.296G>T (p.Cys99Phe) c.46G>T c.39G>T (p.Leu13=) c.-447G>T (n.-447G>T) | gnomAD v4 |
17 | g.42536569C>A | CA399596003 | NAGLU | c.297C>A (p.Cys99Ter) c.47C>A c.40C>A (p.Pro14Thr) c.-446C>A (n.-446C>A) | gnomAD v4 |
17 | g.42536569C= | CA2260526821 | NAGLU | c.297C= (p.Cys99=) c.47C= c.40C= (p.Pro14=) c.-446C= (n.-446C=) | |
17 | g.42536569C>G | CA399596004 | NAGLU | c.297C>G (p.Cys99Trp) c.47C>G c.40C>G (p.Pro14Ala) c.-446C>G (n.-446C>G) | gnomAD v4 |
17 | g.42536569C>T | CA399596005 | NAGLU | c.297C>T (p.Cys99=) c.47C>T c.40C>T (p.Pro14Ser) c.-446C>T (n.-446C>T) | dbSNP gnomAD v4 |
17 | g.42536570C>A | CA399596006 | NAGLU | c.298C>A (p.His100Asn) c.48C>A c.41C>A (p.Pro14Gln) c.-445C>A (n.-445C>A) | gnomAD v4 |
17 | g.42536570C= | CA2260526822 | NAGLU | c.298C= (p.His100=) c.48C= c.41C= (p.Pro14=) c.-445C= (n.-445C=) | |
17 | g.42536570C>G | CA399596007 | NAGLU | c.298C>G (p.His100Asp) c.48C>G c.41C>G (p.Pro14Arg) c.-445C>G (n.-445C>G) | gnomAD v4 |
17 | g.42536570C>T | CA399596008 | NAGLU | c.298C>T (p.His100Tyr) c.48C>T c.41C>T (p.Pro14Leu) c.-445C>T (n.-445C>T) | dbSNP gnomAD v4 |
17 | g.42536571A>C | CA399596009 | NAGLU | c.299A>C (p.His100Pro) c.49A>C c.42A>C (p.Pro14=) c.-444A>C (n.-444A>C) | |
17 | g.42536571A>G | CA399596010 | NAGLU | c.299A>G (p.His100Arg) c.49A>G c.42A>G (p.Pro14=) c.-444A>G (n.-444A>G) | |
17 | g.42536571A>T | CA399596011 | NAGLU | c.299A>T (p.His100Leu) c.49A>T c.42A>T (p.Pro14=) c.-444A>T (n.-444A>T) | |
17 | g.42536572C>A | CA399596012 | NAGLU | c.300C>A (p.His100Gln) c.50C>A c.43C>A (p.Arg15Ser) c.-443C>A (n.-443C>A) | gnomAD v4 |
17 | g.42536572C= | CA2260526823 | NAGLU | c.300C= (p.His100=) c.50C= c.43C= (p.Arg15=) c.-443C= (n.-443C=) | |
17 | g.42536572C>G | CA399596013 | NAGLU | c.300C>G (p.His100Gln) c.50C>G c.43C>G (p.Arg15Gly) c.-443C>G (n.-443C>G) | |
17 | g.42536572C>T | CA399596014 | NAGLU | c.300C>T (p.His100=) c.50C>T c.43C>T (p.Arg15Cys) c.-443C>T (n.-443C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536573G>A | CA399596016 | NAGLU | c.301G>A (p.Val101Met) c.51G>A c.44G>A (p.Arg15His) c.-442G>A (n.-442G>A) | gnomAD v4 |
17 | g.42536573G>C | CA399596017 | NAGLU | c.301G>C (p.Val101Leu) c.51G>C c.44G>C (p.Arg15Pro) c.-442G>C (n.-442G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536573G= | CA2260526824 | NAGLU | c.301G= (p.Val101=) c.51G= c.44G= (p.Arg15=) c.-442G= (n.-442G=) | |
17 | g.42536573G>T | CA399596015 | NAGLU | c.301G>T (p.Val101Leu) c.51G>T c.44G>T (p.Arg15Leu) c.-442G>T (n.-442G>T) | gnomAD v4 |
17 | g.42536574T>A | CA399596018 | NAGLU | c.302T>A (p.Val101Glu) c.52T>A c.45T>A (p.Arg15=) c.-441T>A (n.-441T>A) | |
17 | g.42536574T>C | CA399596019 | NAGLU | c.302T>C (p.Val101Ala) c.52T>C c.45T>C (p.Arg15=) c.-441T>C (n.-441T>C) | gnomAD v4 |
17 | g.42536574T>G | CA399596020 | NAGLU | c.302T>G (p.Val101Gly) c.52T>G c.45T>G (p.Arg15=) c.-441T>G (n.-441T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536574T= | CA2260526825 | NAGLU | c.302T= (p.Val101=) c.52T= c.45T= (p.Arg15=) c.-441T= (n.-441T=) | |
17 | g.42536575G>A | CA399596021 | NAGLU | c.303G>A (p.Val101=) c.53G>A c.46G>A (p.Gly16Ser) c.-440G>A (n.-440G>A) | gnomAD v4 |
17 | g.42536575G>C | CA399596022 | NAGLU | c.303G>C (p.Val101=) c.53G>C c.46G>C (p.Gly16Arg) c.-440G>C (n.-440G>C) | |
17 | g.42536575G>T | CA399596023 | NAGLU | c.303G>T (p.Val101=) c.53G>T c.46G>T (p.Gly16Cys) c.-440G>T (n.-440G>T) | gnomAD v4 |
17 | g.42536576G>A | CA399596026 | NAGLU | c.304G>A (p.Ala102Thr) c.54G>A c.47G>A (p.Gly16Asp) c.-439G>A (n.-439G>A) | ClinVar gnomAD v4 |
17 | g.42536576G>C | CA399596024 | NAGLU | c.304G>C (p.Ala102Pro) c.54G>C c.47G>C (p.Gly16Ala) c.-439G>C (n.-439G>C) | |
17 | g.42536576G>T | CA399596025 | NAGLU | c.304G>T (p.Ala102Ser) c.54G>T c.47G>T (p.Gly16Val) c.-439G>T (n.-439G>T) | gnomAD v4 |
17 | g.42536577C>A | CA399596027 | NAGLU | c.305C>A (p.Ala102Asp) c.55C>A c.48C>A (p.Gly16=) c.-438C>A (n.-438C>A) | gnomAD v4 |
17 | g.42536577C= | CA2260526826 | NAGLU | c.305C= (p.Ala102=) c.55C= c.48C= (p.Gly16=) c.-438C= (n.-438C=) | |
17 | g.42536577C>G | CA399596028 | NAGLU | c.305C>G (p.Ala102Gly) c.55C>G c.48C>G (p.Gly16=) c.-438C>G (n.-438C>G) | dbSNP |
17 | g.42536577C>T | CA399596029 | NAGLU | c.305C>T (p.Ala102Val) c.55C>T c.48C>T (p.Gly16=) c.-438C>T (n.-438C>T) | gnomAD v4 |
17 | g.42536578C>A | CA399596030 | NAGLU | c.306C>A (p.Ala102=) c.56C>A c.49C>A (p.Leu17Met) c.-437C>A (n.-437C>A) | gnomAD v4 |
17 | g.42536578C= | CA2260526827 | NAGLU | c.306C= (p.Ala102=) c.56C= c.49C= (p.Leu17=) c.-437C= (n.-437C=) | |
17 | g.42536578C>G | CA399596031 | NAGLU | c.306C>G (p.Ala102=) c.56C>G c.49C>G (p.Leu17Val) c.-437C>G (n.-437C>G) | ClinVar |
17 | g.42536578C>T | CA500215795 | NAGLU | c.306C>T (p.Ala102=) c.56C>T c.49C>T (p.Leu17=) c.-437C>T (n.-437C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536579T>A | CA399596032 | NAGLU | c.307T>A (p.Trp103Arg) c.57T>A c.50T>A (p.Leu17Gln) c.-436T>A (n.-436T>A) | gnomAD v4 |
17 | g.42536579T>C | CA399596034 | NAGLU | c.307T>C (p.Trp103Arg) c.57T>C c.50T>C (p.Leu17Pro) c.-436T>C (n.-436T>C) | gnomAD v4 |
17 | g.42536579T>G | CA399596033 | NAGLU | c.307T>G (p.Trp103Gly) c.57T>G c.50T>G (p.Leu17Arg) c.-436T>G (n.-436T>G) | |
17 | g.42536580G>A | CA399596035 | NAGLU | c.308G>A (p.Trp103Ter) c.58G>A c.51G>A (p.Leu17=) c.-435G>A (n.-435G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536580G>C | CA399596036 | NAGLU | c.308G>C (p.Trp103Ser) c.58G>C c.51G>C (p.Leu17=) c.-435G>C (n.-435G>C) | dbSNP gnomAD v4 |
17 | g.42536580G= | CA2260526828 | NAGLU | c.308G= (p.Trp103=) c.58G= c.51G= (p.Leu17=) c.-435G= (n.-435G=) | |
17 | g.42536580G>T | CA399596037 | NAGLU | c.308G>T (p.Trp103Leu) c.58G>T c.51G>T (p.Leu17=) c.-435G>T (n.-435G>T) | gnomAD v4 |
17 | g.42536581G>A | CA399596038 | NAGLU | c.309G>A (p.Trp103Ter) c.59G>A c.52G>A (p.Val18Ile) c.-434G>A (n.-434G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536581G>C | CA399596039 | NAGLU | c.309G>C (p.Trp103Cys) c.59G>C c.52G>C (p.Val18Leu) c.-434G>C (n.-434G>C) | |
17 | g.42536581G= | CA2260526829 | NAGLU | c.309G= (p.Trp103=) c.59G= c.52G= (p.Val18=) c.-434G= (n.-434G=) | |
17 | g.42536581G>T | CA399596040 | NAGLU | c.309G>T (p.Trp103Cys) c.59G>T c.52G>T (p.Val18Phe) c.-434G>T (n.-434G>T) | |
17 | g.42536582T>A | CA399596041 | NAGLU | c.310T>A (p.Ser104Thr) c.60T>A c.53T>A (p.Val18Asp) c.-433T>A (n.-433T>A) | |
17 | g.42536582T>C | CA399596042 | NAGLU | c.310T>C (p.Ser104Pro) c.60T>C c.53T>C (p.Val18Ala) c.-433T>C (n.-433T>C) | gnomAD v4 |
17 | g.42536582T>G | CA399596043 | NAGLU | c.310T>G (p.Ser104Ala) c.60T>G c.53T>G (p.Val18Gly) c.-433T>G (n.-433T>G) | |
17 | g.42536583C>A | CA399596044 | NAGLU | c.311C>A (p.Ser104Tyr) c.61C>A c.54C>A (p.Val18=) c.-432C>A (n.-432C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536583C>G | CA399596045 | NAGLU | c.311C>G (p.Ser104Cys) c.61C>G c.54C>G (p.Val18=) c.-432C>G (n.-432C>G) | |
17 | g.42536583C>T | CA399596046 | NAGLU | c.311C>T (p.Ser104Phe) c.61C>T c.54C>T (p.Val18=) c.-432C>T (n.-432C>T) | |
17 | g.42536584C>A | CA500215815 | NAGLU | c.312C>A (p.Ser104=) c.62C>A c.55C>A (p.Arg19=) c.-431C>A (n.-431C>A) | gnomAD v4 |
17 | g.42536584C>G | CA399596048 | NAGLU | c.312C>G (p.Ser104=) c.62C>G c.55C>G (p.Arg19Gly) c.-431C>G (n.-431C>G) | gnomAD v4 |
17 | g.42536584C>T | CA399596047 | NAGLU | c.312C>T (p.Ser104=) c.62C>T c.55C>T (p.Arg19Trp) c.-431C>T (n.-431C>T) | ClinVar gnomAD v4 |
17 | g.42536585G>A | CA399596049 | NAGLU | c.313G>A (p.Gly105Ser) c.63G>A c.56G>A (p.Arg19Gln) c.-430G>A (n.-430G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536585G>C | CA399596051 | NAGLU | c.313G>C (p.Gly105Arg) c.63G>C c.56G>C (p.Arg19Pro) c.-430G>C (n.-430G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536585G= | CA2260526830 | NAGLU | c.313G= (p.Gly105=) c.63G= c.56G= (p.Arg19=) c.-430G= (n.-430G=) | |
17 | g.42536585G>T | CA399596050 | NAGLU | c.313G>T (p.Gly105Cys) c.63G>T c.56G>T (p.Arg19Leu) c.-430G>T (n.-430G>T) | gnomAD v4 |
17 | g.42536586G>A | CA399596052 | NAGLU | c.314G>A (p.Gly105Asp) c.64G>A c.57G>A (p.Arg19=) c.-429G>A (n.-429G>A) | gnomAD v4 |
17 | g.42536586G>C | CA399596053 | NAGLU | c.314G>C (p.Gly105Ala) c.64G>C c.57G>C (p.Arg19=) c.-429G>C (n.-429G>C) | ClinVar |
17 | g.42536586G>T | CA399596054 | NAGLU | c.314G>T (p.Gly105Val) c.64G>T c.57G>T (p.Arg19=) c.-429G>T (n.-429G>T) | gnomAD v4 |
17 | g.42536589_42536595del | CA2573154146 | NAGLU | c.317_323del (p.Ser106CysfsTer14) c.67_73del c.60_66del (p.Ser21ArgfsTer27) c.-426_-420del (n.-426_-420del) | ClinVar dbSNP |
17 | g.42536587C>A | CA399596055 | NAGLU | c.315C>A (p.Gly105=) c.65C>A c.58C>A (p.Leu20Ile) c.-428C>A (n.-428C>A) | gnomAD v4 |
17 | g.42536587C>G | CA399596056 | NAGLU | c.315C>G (p.Gly105=) c.65C>G c.58C>G (p.Leu20Val) c.-428C>G (n.-428C>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42536587C>T | CA399596057 | NAGLU | c.315C>T (p.Gly105=) c.65C>T c.58C>T (p.Leu20Phe) c.-428C>T (n.-428C>T) | |
17 | g.42536588T>A | CA399596058 | NAGLU | c.316T>A (p.Ser106Thr) c.66T>A c.59T>A (p.Leu20His) c.-427T>A (n.-427T>A) | |
17 | g.42536588T>C | CA399596060 | NAGLU | c.316T>C (p.Ser106Pro) c.66T>C c.59T>C (p.Leu20Pro) c.-427T>C (n.-427T>C) | gnomAD v4 |
17 | g.42536588T>G | CA399596062 | NAGLU | c.316T>G (p.Ser106Ala) c.66T>G c.59T>G (p.Leu20Arg) c.-427T>G (n.-427T>G) | |
17 | g.42536589C>A | CA399596064 | NAGLU | c.317C>A (p.Ser106Tyr) c.67C>A c.60C>A (p.Leu20=) c.-426C>A (n.-426C>A) | gnomAD v4 |
17 | g.42536589C= | CA2260526831 | NAGLU | c.317C= (p.Ser106=) c.67C= c.60C= (p.Leu20=) c.-426C= (n.-426C=) | |
17 | g.42536589C>G | CA399596065 | NAGLU | c.317C>G (p.Ser106Cys) c.67C>G c.60C>G (p.Leu20=) c.-426C>G (n.-426C>G) | |
17 | g.42536589C>T | CA399596067 | NAGLU | c.317C>T (p.Ser106Phe) c.67C>T c.60C>T (p.Leu20=) c.-426C>T (n.-426C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536590T>A | CA399596073 | NAGLU | c.318T>A (p.Ser106=) c.68T>A c.61T>A (p.Ser21Thr) c.-425T>A (n.-425T>A) | gnomAD v4 |
17 | g.42536590T>C | CA399596072 | NAGLU | c.318T>C (p.Ser106=) c.68T>C c.61T>C (p.Ser21Pro) c.-425T>C (n.-425T>C) | gnomAD v4 |
17 | g.42536590T>G | CA399596070 | NAGLU | c.318T>G (p.Ser106=) c.68T>G c.61T>G (p.Ser21Ala) c.-425T>G (n.-425T>G) | ClinVar |
17 | g.42536591C>A | CA399596075 | NAGLU | c.319C>A (p.Gln107Lys) c.69C>A c.62C>A (p.Ser21Ter) c.-424C>A (n.-424C>A) | gnomAD v4 |
17 | g.42536591C= | CA2260526832 | NAGLU | c.319C= (p.Gln107=) c.69C= c.62C= (p.Ser21=) c.-424C= (n.-424C=) | |
17 | g.42536591C>G | CA399596076 | NAGLU | c.319C>G (p.Gln107Glu) c.69C>G c.62C>G (p.Ser21Ter) c.-424C>G (n.-424C>G) | gnomAD v4 |
17 | g.42536591C>T | CA399596077 | NAGLU | c.319C>T (p.Gln107Ter) c.69C>T c.62C>T (p.Ser21Leu) c.-424C>T (n.-424C>T) | gnomAD v4 |
17 | g.42536592A>C | CA399596079 | NAGLU | c.320A>C (p.Gln107Pro) c.70A>C c.63A>C (p.Ser21=) c.-423A>C (n.-423A>C) | |
17 | g.42536592A>G | CA399596081 | NAGLU | c.320A>G (p.Gln107Arg) c.70A>G c.63A>G (p.Ser21=) c.-423A>G (n.-423A>G) | ClinVar gnomAD v4 |
17 | g.42536592A>T | CA399596083 | NAGLU | c.320A>T (p.Gln107Leu) c.70A>T c.63A>T (p.Ser21=) c.-423A>T (n.-423A>T) | |
17 | g.42536592dup | CA2260526833 | NAGLU | c.320dup (p.Leu108AlafsTer?) c.70dup c.63dup (p.Ala22SerfsTer15) c.-423dup (n.-423dup) c.320dup (p.Leu108AlafsTer28) | dbSNP |
17 | g.42536593G>A | CA8576701 | NAGLU | c.321G>A (p.Gln107=) c.71G>A c.64G>A (p.Ala22Thr) c.-422G>A (n.-422G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536593G>C | CA399596086 | NAGLU | c.321G>C (p.Gln107His) c.71G>C c.64G>C (p.Ala22Pro) c.-422G>C (n.-422G>C) | gnomAD v4 |
17 | g.42536593G= | CA2260526834 | NAGLU | c.321G= (p.Gln107=) c.71G= c.64G= (p.Ala22=) c.-422G= (n.-422G=) | |
17 | g.42536593G>T | CA399596088 | NAGLU | c.321G>T (p.Gln107His) c.71G>T c.64G>T (p.Ala22Ser) c.-422G>T (n.-422G>T) | gnomAD v4 |
17 | g.42536594C>A | CA399596090 | NAGLU | c.322C>A (p.Leu108Met) c.72C>A c.65C>A (p.Ala22Asp) c.-421C>A (n.-421C>A) | gnomAD v4 |
17 | g.42536594C= | CA2260526835 | NAGLU | c.322C= (p.Leu108=) c.72C= c.65C= (p.Ala22=) c.-421C= (n.-421C=) | |
17 | g.42536594C>G | CA399596092 | NAGLU | c.322C>G (p.Leu108Val) c.72C>G c.65C>G (p.Ala22Gly) c.-421C>G (n.-421C>G) | |
17 | g.42536594C>T | CA399596094 | NAGLU | c.322C>T (p.Leu108=) c.72C>T c.65C>T (p.Ala22Val) c.-421C>T (n.-421C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536595T>A | CA399596099 | NAGLU | c.323T>A (p.Leu108Gln) c.73T>A c.66T>A (p.Ala22=) c.-420T>A (n.-420T>A) | gnomAD v4 |
17 | g.42536595T>C | CA399596097 | NAGLU | c.323T>C (p.Leu108Pro) c.73T>C c.66T>C (p.Ala22=) c.-420T>C (n.-420T>C) | dbSNP gnomAD v4 |
17 | g.42536595T>G | CA399596096 | NAGLU | c.323T>G (p.Leu108Arg) c.73T>G c.66T>G (p.Ala22=) c.-420T>G (n.-420T>G) | |
17 | g.42536595T= | CA2260526836 | NAGLU | c.323T= (p.Leu108=) c.73T= c.66T= (p.Ala22=) c.-420T= (n.-420T=) | |
17 | g.42536596G>A | CA399596101 | NAGLU | c.324G>A (p.Leu108=) c.74G>A c.67G>A (p.Ala23Thr) c.-419G>A (n.-419G>A) | gnomAD v4 |
17 | g.42536596G>C | CA399596102 | NAGLU | c.324G>C (p.Leu108=) c.74G>C c.67G>C (p.Ala23Pro) c.-419G>C (n.-419G>C) | |
17 | g.42536596G>T | CA399596104 | NAGLU | c.324G>T (p.Leu108=) c.74G>T c.67G>T (p.Ala23Ser) c.-419G>T (n.-419G>T) | |
17 | g.42536597C>A | CA399596107 | NAGLU | c.325C>A (p.Arg109Ser) c.75C>A c.68C>A (p.Ala23Glu) c.-418C>A (n.-418C>A) | gnomAD v4 |
17 | g.42536597C>G | CA399596108 | NAGLU | c.325C>G (p.Arg109Gly) c.75C>G c.68C>G (p.Ala23Gly) c.-418C>G (n.-418C>G) | |
17 | g.42536597C>T | CA399596109 | NAGLU | c.325C>T (p.Arg109Cys) c.75C>T c.68C>T (p.Ala23Val) c.-418C>T (n.-418C>T) | gnomAD v4 |
17 | g.42536598del | CA2695226052 | NAGLU | c.326del (p.Arg109ProfsTer13) c.76del c.69del (p.Pro24LeufsTer26) c.-417del (n.-417del) | |
17 | g.42536598G>A | CA399596114 | NAGLU | c.326G>A (p.Arg109His) c.76G>A c.69G>A (p.Ala23=) c.-417G>A (n.-417G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536598G>C | CA399596113 | NAGLU | c.326G>C (p.Arg109Pro) c.76G>C c.69G>C (p.Ala23=) c.-417G>C (n.-417G>C) | |
17 | g.42536598G= | CA2260526837 | NAGLU | c.326G= (p.Arg109=) c.76G= c.69G= (p.Ala23=) c.-417G= (n.-417G=) | |
17 | g.42536598G>T | CA399596112 | NAGLU | c.326G>T (p.Arg109Leu) c.76G>T c.69G>T (p.Ala23=) c.-417G>T (n.-417G>T) | ClinVar gnomAD v4 |
17 | g.42536599C>A | CA399596116 | NAGLU | c.327C>A (p.Arg109=) c.77C>A c.70C>A (p.Pro24Thr) c.-416C>A (n.-416C>A) | ClinVar gnomAD v4 |
17 | g.42536599C>G | CA399596118 | NAGLU | c.327C>G (p.Arg109=) c.77C>G c.70C>G (p.Pro24Ala) c.-416C>G (n.-416C>G) | |
17 | g.42536599C>T | CA399596119 | NAGLU | c.327C>T (p.Arg109=) c.77C>T c.70C>T (p.Pro24Ser) c.-416C>T (n.-416C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536600C>A | CA399596121 | NAGLU | c.328C>A (p.Leu110Met) c.78C>A c.71C>A (p.Pro24His) c.-415C>A (n.-415C>A) | gnomAD v4 |
17 | g.42536600C= | CA2260526839 | NAGLU | c.328C= (p.Leu110=) c.78C= c.71C= (p.Pro24=) c.-415C= (n.-415C=) | |
17 | g.42536600C>G | CA399596123 | NAGLU | c.328C>G (p.Leu110Val) c.78C>G c.71C>G (p.Pro24Arg) c.-415C>G (n.-415C>G) | |
17 | g.42536600C>T | CA399596125 | NAGLU | c.328C>T (p.Leu110=) c.78C>T c.71C>T (p.Pro24Leu) c.-415C>T (n.-415C>T) | dbSNP gnomAD v4 |
17 | g.42536600_42536601delinsCT | CA2260526838 | NAGLU | c.328_329delinsCT (p.Leu110=) c.78_79delinsCT c.71_72delinsCT (p.Pro24=) c.-415_-414delinsCT (n.-415_-414delinsCT) | |
17 | g.42536605_42536616del | CA2740095358 | NAGLU | c.333_344del (p.Arg112_Pro115del) c.83_94del c.76_87del (p.Ala26_Ala29del) c.-410_-399del (n.-410_-399del) | ClinVar |
17 | g.42536601del | CA772109676 | NAGLU | c.329del (p.Leu110ArgfsTer12) c.79del c.72del (p.Ala25ProfsTer25) c.-414del (n.-414del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536601T>A | CA399596127 | NAGLU | c.329T>A (p.Leu110Gln) c.79T>A c.72T>A (p.Pro24=) c.-414T>A (n.-414T>A) | gnomAD v4 |
17 | g.42536601T>C | CA399596130 | NAGLU | c.329T>C (p.Leu110Pro) c.79T>C c.72T>C (p.Pro24=) c.-414T>C (n.-414T>C) | gnomAD v4 |
17 | g.42536601T>G | CA399596129 | NAGLU | c.329T>G (p.Leu110Arg) c.79T>G c.72T>G (p.Pro24=) c.-414T>G (n.-414T>G) | gnomAD v4 |
17 | g.42536601dup | CA2580093764 | NAGLU | c.329dup (p.Pro111AlafsTer?) c.79dup c.72dup (p.Ala25CysfsTer12) c.-414dup (n.-414dup) c.329dup (p.Pro111AlafsTer25) | ClinVar |
17 | g.42536602G>A | CA399596133 | NAGLU | c.330G>A (p.Leu110=) c.80G>A c.73G>A (p.Ala25Thr) c.-413G>A (n.-413G>A) | gnomAD v4 |
17 | g.42536602G>C | CA399596134 | NAGLU | c.330G>C (p.Leu110=) c.80G>C c.73G>C (p.Ala25Pro) c.-413G>C (n.-413G>C) | gnomAD v4 |
17 | g.42536602G= | CA2260526840 | NAGLU | c.330G= (p.Leu110=) c.80G= c.73G= (p.Ala25=) c.-413G= (n.-413G=) | |
17 | g.42536602G>T | CA399596135 | NAGLU | c.330G>T (p.Leu110=) c.80G>T c.73G>T (p.Ala25Ser) c.-413G>T (n.-413G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536603C>A | CA399596137 | NAGLU | c.331C>A (p.Pro111Thr) c.81C>A c.74C>A (p.Ala25Asp) c.-412C>A (n.-412C>A) | gnomAD v4 |
17 | g.42536603C>G | CA399596139 | NAGLU | c.331C>G (p.Pro111Ala) c.81C>G c.74C>G (p.Ala25Gly) c.-412C>G (n.-412C>G) | |
17 | g.42536603C>T | CA399596141 | NAGLU | c.331C>T (p.Pro111Ser) c.81C>T c.74C>T (p.Ala25Val) c.-412C>T (n.-412C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536604C>A | CA399596143 | NAGLU | c.332C>A (p.Pro111Gln) c.82C>A c.75C>A (p.Ala25=) c.-411C>A (n.-411C>A) | gnomAD v4 |
17 | g.42536604C= | CA2260526841 | NAGLU | c.332C= (p.Pro111=) c.82C= c.75C= (p.Ala25=) c.-411C= (n.-411C=) | |
17 | g.42536604C>G | CA399596145 | NAGLU | c.332C>G (p.Pro111Arg) c.82C>G c.75C>G (p.Ala25=) c.-411C>G (n.-411C>G) | dbSNP gnomAD v4 |
17 | g.42536604C>T | CA399596147 | NAGLU | c.332C>T (p.Pro111Leu) c.82C>T c.75C>T (p.Ala25=) c.-411C>T (n.-411C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536605G>A | CA399596148 | NAGLU | c.333G>A (p.Pro111=) c.83G>A c.76G>A (p.Ala26Thr) c.-410G>A (n.-410G>A) | gnomAD v4 |
17 | g.42536605G>C | CA399596150 | NAGLU | c.333G>C (p.Pro111=) c.83G>C c.76G>C (p.Ala26Pro) c.-410G>C (n.-410G>C) | |
17 | g.42536605G>T | CA399596151 | NAGLU | c.333G>T (p.Pro111=) c.83G>T c.76G>T (p.Ala26Ser) c.-410G>T (n.-410G>T) | gnomAD v4 |
17 | g.42536606_42536630del | CA2573130377 | NAGLU | c.334_358del (p.Arg112SerfsTer2) c.84_108del c.77_101del (p.Ala26GlufsTer16) c.-409_-385del (n.-409_-385del) | |
17 | g.42536606C>A | CA399596153 | NAGLU | c.334C>A (p.Arg112=) c.84C>A c.77C>A (p.Ala26Glu) c.-409C>A (n.-409C>A) | gnomAD v4 |
17 | g.42536606C>G | CA399596155 | NAGLU | c.334C>G (p.Arg112Gly) c.84C>G c.77C>G (p.Ala26Gly) c.-409C>G (n.-409C>G) | |
17 | g.42536606C>T | CA399596152 | NAGLU | c.334C>T (p.Arg112Trp) c.84C>T c.77C>T (p.Ala26Val) c.-409C>T (n.-409C>T) | gnomAD v4 |
17 | g.42536607G>A | CA399596158 | NAGLU | c.335G>A (p.Arg112Gln) c.85G>A c.78G>A (p.Ala26=) c.-408G>A (n.-408G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536607G>C | CA399596157 | NAGLU | c.335G>C (p.Arg112Pro) c.85G>C c.78G>C (p.Ala26=) c.-408G>C (n.-408G>C) | |
17 | g.42536607G= | CA2260526842 | NAGLU | c.335G= (p.Arg112=) c.85G= c.78G= (p.Ala26=) c.-408G= (n.-408G=) | |
17 | g.42536607G>T | CA290771388 | NAGLU | c.335G>T (p.Arg112Leu) c.85G>T c.78G>T (p.Ala26=) c.-408G>T (n.-408G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536608G>A | CA399596161 | NAGLU | c.336G>A (p.Arg112=) c.86G>A c.79G>A (p.Ala27Thr) c.-407G>A (n.-407G>A) | gnomAD v4 |
17 | g.42536608G>C | CA399596163 | NAGLU | c.336G>C (p.Arg112=) c.86G>C c.79G>C (p.Ala27Pro) c.-407G>C (n.-407G>C) | gnomAD v4 |
17 | g.42536608G= | CA2260526843 | NAGLU | c.336G= (p.Arg112=) c.86G= c.79G= (p.Ala27=) c.-407G= (n.-407G=) | |
17 | g.42536608G>T | CA399596162 | NAGLU | c.336G>T (p.Arg112=) c.86G>T c.79G>T (p.Ala27Ser) c.-407G>T (n.-407G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536609C>A | CA399596165 | NAGLU | c.337C>A (p.Pro113Thr) c.87C>A c.80C>A (p.Ala27Asp) c.-406C>A (n.-406C>A) | gnomAD v4 |
17 | g.42536609C= | CA2260526844 | NAGLU | c.337C= (p.Pro113=) c.87C= c.80C= (p.Ala27=) c.-406C= (n.-406C=) | |
17 | g.42536609C>G | CA399596168 | NAGLU | c.337C>G (p.Pro113Ala) c.87C>G c.80C>G (p.Ala27Gly) c.-406C>G (n.-406C>G) | |
17 | g.42536609C>T | CA399596167 | NAGLU | c.337C>T (p.Pro113Ser) c.87C>T c.80C>T (p.Ala27Val) c.-406C>T (n.-406C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |